id	category	name	xref	has_gene	in_taxon	in_taxon_label
CLINVAR:586	biolink:SequenceVariant	NM_000277.2(PAH):c.1A>G (p.Met1Val)	CA114360	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102844	biolink:SequenceVariant	NM_000277.2(PAH):c.806delT (p.Ile269Thrfs)	CA229778	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102736	biolink:SequenceVariant	NM_000277.2(PAH):c.561G>A (p.Trp187Ter)	CA229624	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102705	biolink:SequenceVariant	NM_000277.2(PAH):c.503delA (p.Tyr168Serfs)	CA229588	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102518	biolink:SequenceVariant	NM_000277.2(PAH):c.1089delG (p.Lys363Asnfs)	CA229336	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102498	biolink:SequenceVariant	NM_000277.2(PAH):c.1055delG (p.Gly352Valfs)	CA229311	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102475	biolink:SequenceVariant	NM_000277.2(PAH):c.1024delG (p.Ala342Hisfs)	CA229279	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92752	biolink:SequenceVariant	NM_000277.2(PAH):c.912+1G>A	CA220591	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:581	biolink:SequenceVariant	NM_000277.2(PAH):c.331C>T (p.Arg111Ter)	CA251526	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102693	biolink:SequenceVariant	NM_000277.2(PAH):c.472C>T (p.Arg158Trp)	CA229570	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102723	biolink:SequenceVariant	NM_000277.2(PAH):c.526C>T (p.Arg176Ter)	CA275338	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92737	biolink:SequenceVariant	NM_000277.2(PAH):c.169G>A (p.Glu57Lys)	CA220578	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102742	biolink:SequenceVariant	NM_000277.2(PAH):c.581T>C (p.Leu194Pro)	CA229633	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92746	biolink:SequenceVariant	NM_000277.2(PAH):c.533A>G (p.Glu178Gly)	CA273110	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92741	biolink:SequenceVariant	NM_000277.2(PAH):c.355C>T (p.Pro119Ser)	CA220582	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:306914	biolink:SequenceVariant	NM_000277.2(PAH):c.299A>G (p.His100Arg)	CA6748985	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102703	biolink:SequenceVariant	NM_000277.2(PAH):c.500A>G (p.Asn167Ser)	CA229585	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102687	biolink:SequenceVariant	NM_000277.2(PAH):c.464G>C (p.Arg155Pro)	CA229561	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102716	biolink:SequenceVariant	NM_000277.2(PAH):c.511G>A (p.Gly171Arg)	CA229598	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102601	biolink:SequenceVariant	NM_000277.2(PAH):c.158G>A (p.Arg53His)	CA229447	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102729	biolink:SequenceVariant	NM_000277.2(PAH):c.535T>A (p.Tyr179Asn)	CA229613	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102871	biolink:SequenceVariant	NM_000277.2(PAH):c.842+3G>C	CA229814	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92743	biolink:SequenceVariant	NM_000277.2(PAH):c.500A>T (p.Asn167Ile)	CA220584	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102706	biolink:SequenceVariant	NM_000277.2(PAH):c.506G>A (p.Arg169His)	CA286505	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120273	biolink:SequenceVariant	NM_000277.2(PAH):c.350C>T (p.Thr117Ile)	CA267651	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92729	biolink:SequenceVariant	NM_000277.2(PAH):c.1068C>A (p.Tyr356Ter)	CA273107	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:598	biolink:SequenceVariant	NM_000277.2(PAH):c.818C>T (p.Ser273Phe)	CA229785	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120287	biolink:SequenceVariant	NM_000277.2(PAH):c.812A>T (p.His271Leu)	CA267675	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92740	biolink:SequenceVariant	NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)	CA220580	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120271	biolink:SequenceVariant	NM_000277.2(PAH):c.205_210dup (p.Ser70_Arg71insProSer)	CA267647	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:225135	biolink:SequenceVariant	NM_000277.2(PAH):c.800A>T (p.Gln267Leu)	CA354145	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102821	biolink:SequenceVariant	NM_000277.2(PAH):c.745C>T (p.Leu249Phe)	CA273356	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:603	biolink:SequenceVariant	NM_000277.2(PAH):c.829T>G (p.Tyr277Asp)	CA251534	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:599	biolink:SequenceVariant	NM_000277.2(PAH):c.842+1G>A	CA229811	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:632	biolink:SequenceVariant	NM_000277.2(PAH):c.734T>C (p.Val245Ala)	CA114372	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102483	biolink:SequenceVariant	NM_000277.2(PAH):c.1033G>A (p.Ala345Thr)	CA229291	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102557	biolink:SequenceVariant	NM_000277.2(PAH):c.1199+1G>C	CA274088	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102696	biolink:SequenceVariant	NM_000277.2(PAH):c.47_48delCT (p.Ser16Terfs)	CA229574	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102913	biolink:SequenceVariant	NM_000277.1(PAH):c.967_969delACA (p.Thr323del)	CA229876	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:281073	biolink:SequenceVariant	NM_000277.1(PAH):c.983C>T (p.Thr328Ile)	CA10603804	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:439228	biolink:SequenceVariant	NM_000277.1:c.842+4A>G	CA16020870	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92742	biolink:SequenceVariant	NM_000277.1(PAH):c.441+5G>T	CA273112	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:577	biolink:SequenceVariant	NM_000277.1(PAH):c.1222C>T (p.Arg408Trp)	CA251523	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:596	biolink:SequenceVariant	NM_000277.1(PAH):c.814G>T (p.Gly272Ter)	CA251532	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102650	biolink:SequenceVariant	NM_000277.2(PAH):c.311C>A (p.Ala104Asp)	CA229515	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:607	biolink:SequenceVariant	NM_000277.3(PAH):c.1066-11G>A	CA251538	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:617	biolink:SequenceVariant	NM_000277.1(PAH):c.1243G>A (p.Asp415Asn)	CA114364	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:610	biolink:SequenceVariant	NM_000277.1(PAH):c.781C>T (p.Arg261Ter)	CA229757	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:576	biolink:SequenceVariant	NM_000277.2(PAH):c.1315+1G>A	CA251522	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:593	biolink:SequenceVariant	NM_000277.1(PAH):c.1241A>G (p.Tyr414Cys)	CA114362	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:582	biolink:SequenceVariant	NM_000277.1(PAH):c.782G>A (p.Arg261Gln)	CA251528	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:592	biolink:SequenceVariant	NM_000277.1(PAH):c.1238G>C (p.Arg413Pro)	CA229414	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102632	biolink:SequenceVariant	NM_000277.1(PAH):c.208_210delTCT (p.Ser70del)	CA229490	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:612	biolink:SequenceVariant	NM_000277.1(PAH):c.1223G>A (p.Arg408Gln)	CA229404	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:376937	biolink:SequenceVariant	NM_000277.2(PAH):c.289A>C (p.Ile97Leu)	CA6748987	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619	biolink:SequenceVariant	NM_000277.1(PAH):c.1162G>A (p.Val388Met)	CA251543	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102784	biolink:SequenceVariant	NM_000277.1(PAH):c.688G>A (p.Val230Ile)	CA286506	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:628	biolink:SequenceVariant	NM_000277.1(PAH):c.1139C>T (p.Thr380Met)	CA114369	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:594	biolink:SequenceVariant	NM_000277.1(PAH):c.442-1G>A	CA229550	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102803	biolink:SequenceVariant	NM_000277.1(PAH):c.721C>T (p.Arg241Cys)	CA273357	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102804	biolink:SequenceVariant	NM_000277.1(PAH):c.722G>A (p.Arg241His)	CA286507	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92731	biolink:SequenceVariant	NM_000277.1(PAH):c.1208C>T (p.Ala403Val)	CA273106	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:601	biolink:SequenceVariant	NM_000277.1(PAH):c.1197A>T (p.Val399=)	CA229379	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625	biolink:SequenceVariant	NM_000277.1(PAH):c.1169A>G (p.Glu390Gly)	CA114367	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92751	biolink:SequenceVariant	NM_000277.1(PAH):c.898G>T (p.Ala300Ser)	CA273108	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:588	biolink:SequenceVariant	NM_000277.2(PAH):c.727C>T (p.Arg243Ter)	CA220585	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:584	biolink:SequenceVariant	NM_000277.1(PAH):c.754C>T (p.Arg252Trp)	CA251529	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102824	biolink:SequenceVariant	NM_000277.1(PAH):c.755G>A (p.Arg252Gln)	CA229743	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92747	biolink:SequenceVariant	NM_000277.1(PAH):c.638T>C (p.Leu213Pro)	CA273109	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92753	biolink:SequenceVariant	NM_000277.1(PAH):c.926C>T (p.Ala309Val)	CA220592	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:618	biolink:SequenceVariant	NM_000277.1(PAH):c.916A>G (p.Ile306Val)	CA114365	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102720	biolink:SequenceVariant	NM_000277.1(PAH):c.520A>G (p.Ile174Val)	CA229603	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92744	biolink:SequenceVariant	NM_000277.1(PAH):c.508C>G (p.His170Asp)	CA273111	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102698	biolink:SequenceVariant	NM_000277.2(PAH):c.490A>G (p.Ile164Val)	CA229576	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:595	biolink:SequenceVariant	NM_000277.2(PAH):c.1068C>G (p.Tyr356Ter)	CA229327	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:142269	biolink:SequenceVariant	NM_000314.6(PTEN):c.737C>T (p.Pro246Leu)	CA000559	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:185989	biolink:SequenceVariant	NM_000314.6(PTEN):c.209+3A>T	CA000135	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142681	biolink:SequenceVariant	NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys)	CA169101	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:127687	biolink:SequenceVariant	NM_000314.6(PTEN):c.1052_1054delTAG (p.Val351del)	CA000271	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:187673	biolink:SequenceVariant	NM_000314.6(PTEN):c.1171C>T (p.Pro391Ser)	CA000118	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7844	biolink:SequenceVariant	NM_000314.6(PTEN):c.-764G>A	CA000567	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:404147	biolink:SequenceVariant	NM_000314.6(PTEN):c.44G>A (p.Arg15Lys)	CA16613142	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:184104	biolink:SequenceVariant	NM_000314.6(PTEN):c.78C>T (p.Thr26=)	CA000203	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:187590	biolink:SequenceVariant	NM_000314.8(PTEN):c.165-1G>A	CA000129	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189462	biolink:SequenceVariant	NM_000314.6(PTEN):c.80-1G>C	CA000586	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189441	biolink:SequenceVariant	NM_000314.6(PTEN):c.987_990delTAAA (p.Asn329Lysfs)	CA000656	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:187657	biolink:SequenceVariant	NM_000314.6(PTEN):c.892C>T (p.Gln298Ter)	CA000219	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:185213	biolink:SequenceVariant	NM_000314.6(PTEN):c.964A>T (p.Lys322Ter)	CA000235	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189411	biolink:SequenceVariant	NM_000314.6(PTEN):c.511C>T (p.Gln171Ter)	CA000494	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:141654	biolink:SequenceVariant	NM_000314.6(PTEN):c.50_51delAA (p.Gln17Argfs)	CA000167	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:141485	biolink:SequenceVariant	NM_000314.6(PTEN):c.493-2A>G	CA000478	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:220007	biolink:SequenceVariant	NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)	CA349032	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:404140	biolink:SequenceVariant	NM_000314.6(PTEN):c.801+1delG	CA16613026	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:92816	biolink:SequenceVariant	NM_000314.6(PTEN):c.209+4_209+7delAGTA	CA220637	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142423	biolink:SequenceVariant	NM_000314.6(PTEN):c.802-2A>T	CA000591	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:183722	biolink:SequenceVariant	NM_000314.6(PTEN):c.1026+1G>A	CA000103	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:231916	biolink:SequenceVariant	NM_000314.6(PTEN):c.103A>G (p.Met35Val)	CA10578906	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7829	biolink:SequenceVariant	NM_000314.6(PTEN):c.389G>A (p.Arg130Gln)	CA000437	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189406	biolink:SequenceVariant	NM_000314.6(PTEN):c.407G>A (p.Cys136Tyr)	CA000451	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189500	biolink:SequenceVariant	NM_000314.6(PTEN):c.517C>T (p.Arg173Cys)	CA000498	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:92822	biolink:SequenceVariant	NM_000314.6(PTEN):c.395G>A (p.Gly132Asp)	CA000444	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:127674	biolink:SequenceVariant	NM_000314.6(PTEN):c.-798G>C	CA000581	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189424	biolink:SequenceVariant	NM_000314.6(PTEN):c.*10delT	CA000290	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7824	biolink:SequenceVariant	NM_000314.6(PTEN):c.534_535delTAinsAT (p.Tyr178Ter)	CA000509	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7814	biolink:SequenceVariant	NM_000314.6(PTEN):c.469G>T (p.Glu157Ter)	CA000467	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7834	biolink:SequenceVariant	NM_000314.6(PTEN):c.40dupA (p.Arg14Lysfs)	CA254258	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7815	biolink:SequenceVariant	NM_000314.6(PTEN):c.510T>A (p.Ser170Arg)	CA000492	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7816	biolink:SequenceVariant	NM_000314.6(PTEN):c.368A>G (p.His123Arg)	CA000418	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142220	biolink:SequenceVariant	NM_000314.6(PTEN):c.520T>A (p.Tyr174Asn)	CA000501	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:6613	biolink:SequenceVariant	NM_004086.2(COCH):c.355G>A (p.Ala119Thr)	CA253893	HGNC:2180	NCBITaxon:9606	Homo sapiens
CLINVAR:585322	biolink:SequenceVariant	NM_004004.5:c.677T>A	CA387460663	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:585327	biolink:SequenceVariant	NM_004004.5:c.653G>A	CA6904216	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:17014	biolink:SequenceVariant	NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs)	CA127025	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:505302	biolink:SequenceVariant	NM_004700.3(KCNQ4):c.825G>C (p.Trp275Cys)	CA21112664	HGNC:6298	NCBITaxon:9606	Homo sapiens
CLINVAR:17004	biolink:SequenceVariant	NM_004004.5(GJB2):c.35delG (p.Gly12Valfs)	CA127023	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:44740	biolink:SequenceVariant	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	CA172224	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:177859	biolink:SequenceVariant	NM_206933.2(USH2A):c.12295-?_14133+?del	-	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:506273	biolink:SequenceVariant	NM_206933.2(USH2A):c.11241C>A (p.Tyr3747Ter)	CA1393780	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:166499	biolink:SequenceVariant	NM_206933.2(USH2A):c.5039A>G (p.Lys1680Arg)	CA179559	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:198366	biolink:SequenceVariant	NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)	CA246980	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:43546	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.2291C>T (p.Thr764Met)	CA132713	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:179542	biolink:SequenceVariant	NM_206933.2(USH2A):c.8177G>A (p.Gly2726Glu)	CA184631	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:517357	biolink:SequenceVariant	NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)	CA6197622	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:178957	biolink:SequenceVariant	NM_004999.3(MYO6):c.238C>T (p.Arg80Ter)	CA183381	HGNC:7605	NCBITaxon:9606	Homo sapiens
CLINVAR:228491	biolink:SequenceVariant	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CA10576804	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:161326	biolink:SequenceVariant	NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)	CA012732	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43085	biolink:SequenceVariant	NM_000257.3(MYH7):c.5726G>C (p.Arg1909Pro)	CA016422	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43029	biolink:SequenceVariant	NM_000257.3(MYH7):c.4588C>T (p.Arg1530Ter)	CA015132	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42965	biolink:SequenceVariant	NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)	CA013815	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43011	biolink:SequenceVariant	NM_000257.3(MYH7):c.4354-7C>T	CA014888	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43005	biolink:SequenceVariant	NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)	CA014743	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43003	biolink:SequenceVariant	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	CA014718	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42992	biolink:SequenceVariant	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	CA014494	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164294	biolink:SequenceVariant	NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)	CA014400	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43088	biolink:SequenceVariant	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	CA016441	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42968	biolink:SequenceVariant	NM_000257.3(MYH7):c.3658_3660delGAG (p.Glu1220del)	CA013921	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42950	biolink:SequenceVariant	NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	CA013436	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:155814	biolink:SequenceVariant	NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	CA013417	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177753	biolink:SequenceVariant	NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)	CA013367	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42934	biolink:SequenceVariant	NM_000257.4(MYH7):c.2785_2787GAG[2] (p.Glu931del)	-	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14097	biolink:SequenceVariant	NM_000257.3(MYH7):c.2722C>G (p.Leu908Val)	CA012953	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14125	biolink:SequenceVariant	NM_000257.3(MYH7):c.2717A>G (p.Asp906Gly)	CA012936	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42922	biolink:SequenceVariant	NM_000257.3(MYH7):c.2681A>G (p.Glu894Gly)	CA012832	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14120	biolink:SequenceVariant	NM_000257.3(MYH7):c.2609G>A (p.Arg870His)	CA012740	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177757	biolink:SequenceVariant	NM_000257.3(MYH7):c.2539A>G (p.Lys847Glu)	CA012578	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42913	biolink:SequenceVariant	NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del)	CA012568	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42910	biolink:SequenceVariant	NM_000257.3(MYH7):c.2513C>T (p.Pro838Leu)	CA012515	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177665	biolink:SequenceVariant	NM_000257.3(MYH7):c.2221G>T (p.Gly741Trp)	CA012022	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14098	biolink:SequenceVariant	NM_000257.3(MYH7):c.2221G>C (p.Gly741Arg)	CA012013	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164342	biolink:SequenceVariant	NM_000257.3(MYH7):c.2207T>C (p.Ile736Thr)	CA011970	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14095	biolink:SequenceVariant	NM_000257.3(MYH7):c.2167C>T (p.Arg723Cys)	CA011851	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42885	biolink:SequenceVariant	NM_000257.3(MYH7):c.2167C>G (p.Arg723Gly)	CA011843	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43076	biolink:SequenceVariant	NM_000257.3(MYH7):c.5588G>A (p.Arg1863Gln)	CA016295	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43069	biolink:SequenceVariant	NM_000257.3(MYH7):c.5401G>A (p.Glu1801Lys)	CA016087	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177697	biolink:SequenceVariant	NM_000257.3(MYH7):c.5329G>A (p.Ala1777Thr)	CA015952	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177629	biolink:SequenceVariant	NM_000257.3(MYH7):c.5326A>G (p.Ser1776Gly)	CA015944	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43059	biolink:SequenceVariant	NM_000257.3(MYH7):c.5302G>A (p.Glu1768Lys)	CA015893	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14107	biolink:SequenceVariant	NM_000257.3(MYH7):c.2156G>A (p.Arg719Gln)	CA011785	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14104	biolink:SequenceVariant	NM_000257.3(MYH7):c.2155C>T (p.Arg719Trp)	CA011779	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14105	biolink:SequenceVariant	NM_000257.3(MYH7):c.2146G>A (p.Gly716Arg)	CA011770	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42875	biolink:SequenceVariant	NM_000257.3(MYH7):c.1988G>A (p.Arg663His)	CA011552	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14090	biolink:SequenceVariant	NM_000257.3(MYH7):c.1750G>C (p.Gly584Arg)	CA011186	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14108	biolink:SequenceVariant	NM_000257.3(MYH7):c.1594T>C (p.Ser532Pro)	CA011011	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:36642	biolink:SequenceVariant	NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	CA015727	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177817	biolink:SequenceVariant	NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs)	CA010796	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14087	biolink:SequenceVariant	NM_000257.3(MYH7):c.1208G>A (p.Arg403Gln)	CA010365	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14102	biolink:SequenceVariant	NM_000257.3(MYH7):c.1207C>T (p.Arg403Trp)	CA010360	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42838	biolink:SequenceVariant	NM_000257.3(MYH7):c.1358G>A (p.Arg453His)	CA010639	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164378	biolink:SequenceVariant	NM_000257.3(MYH7):c.1157A>G (p.Tyr386Cys)	CA010299	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42822	biolink:SequenceVariant	NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	CA010192	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43106	biolink:SequenceVariant	NM_000257.3(MYH7):c.788T>C (p.Ile263Thr)	CA016824	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43006	biolink:SequenceVariant	NM_000257.3(MYH7):c.428G>A (p.Arg143Gln)	CA014774	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:40649	biolink:SequenceVariant	NM_005633.3(SOS1):c.322G>A (p.Glu108Lys)	CA261739	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:181528	biolink:SequenceVariant	NM_007373.3(SHOC2):c.519G>A (p.Met173Ile)	CA199174	HGNC:15454	NCBITaxon:9606	Homo sapiens
CLINVAR:40634	biolink:SequenceVariant	NM_007373.3(SHOC2):c.-1C>T	CA223027	HGNC:15454	NCBITaxon:9606	Homo sapiens
CLINVAR:6821	biolink:SequenceVariant	NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly)	CA118524	HGNC:15454	NCBITaxon:9606	Homo sapiens
CLINVAR:40601	biolink:SequenceVariant	NM_002880.3(RAF1):c.775T>A (p.Ser259Thr)	CA261617	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40607	biolink:SequenceVariant	NM_002880.3(RAF1):c.788T>G (p.Val263Gly)	CA273745	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40600	biolink:SequenceVariant	NM_002880.3(RAF1):c.769T>C (p.Ser257Pro)	CA184835	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40612	biolink:SequenceVariant	NM_002880.3(RAF1):c.935T>C (p.Val312Ala)	CA177679	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40613	biolink:SequenceVariant	NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala)	CA134687	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40614	biolink:SequenceVariant	NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	CA235336	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40520	biolink:SequenceVariant	NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe)	CA235373	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40567	biolink:SequenceVariant	NM_002834.4(PTPN11):c.1530G>C (p.Gln510His)	CA220143	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40522	biolink:SequenceVariant	NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln)	CA234739	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:13344	biolink:SequenceVariant	NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro)	CA256758	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40504	biolink:SequenceVariant	NM_002834.4(PTPN11):c.244A>G (p.Met82Val)	CA243279	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40484	biolink:SequenceVariant	NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile)	CA261555	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:46242	biolink:SequenceVariant	NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile)	CA137966	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:40786	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu)	CA180967	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:40813	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys)	CA180944	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:40779	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln)	CA134595	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:40452	biolink:SequenceVariant	NM_004985.4(KRAS):c.65A>G (p.Gln22Arg)	CA235299	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:12594	biolink:SequenceVariant	NM_004985.4(KRAS):c.15A>T (p.Lys5Asn)	CA234191	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:40435	biolink:SequenceVariant	NM_005343.3(HRAS):c.175G>A (p.Ala59Thr)	CA176353	HGNC:5173	NCBITaxon:9606	Homo sapiens
CLINVAR:40439	biolink:SequenceVariant	NM_176795.4(HRAS):c.277A>G (p.Ile93Val)	CA296061	HGNC:5173	NCBITaxon:9606	Homo sapiens
CLINVAR:177672	biolink:SequenceVariant	NM_004333.4(BRAF):c.1785T>G (p.Phe595Leu)	CA280058	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40380	biolink:SequenceVariant	NM_004333.4(BRAF):c.1595G>A (p.Cys532Tyr)	CA175337	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40387	biolink:SequenceVariant	NM_004333.4(BRAF):c.1787G>T (p.Gly596Val)	CA220161	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:12586	biolink:SequenceVariant	NM_004985.4(KRAS):c.178G>C (p.Gly60Arg)	CA273416	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:40454	biolink:SequenceVariant	NM_004985.4(KRAS):c.101C>T (p.Pro34Leu)	CA235301	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:12587	biolink:SequenceVariant	NM_004985.4(KRAS):c.458A>T (p.Asp153Val)	CA256478	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:12588	biolink:SequenceVariant	NM_004985.4(KRAS):c.173C>T (p.Thr58Ile)	CA256480	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:12589	biolink:SequenceVariant	NM_004985.4(KRAS):c.40G>A (p.Val14Ile)	CA156358	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:12610	biolink:SequenceVariant	NM_176795.4(HRAS):c.173C>T (p.Thr58Ile)	CA341206	HGNC:25430	NCBITaxon:9606	Homo sapiens
CLINVAR:12602	biolink:SequenceVariant	NM_005343.3(HRAS):c.34G>A (p.Gly12Ser)	CA122549	HGNC:25430	NCBITaxon:9606	Homo sapiens
CLINVAR:12605	biolink:SequenceVariant	NM_005343.3(HRAS):c.350A>G (p.Lys117Arg)	CA256490	HGNC:25430	NCBITaxon:9606	Homo sapiens
CLINVAR:12606	biolink:SequenceVariant	NM_005343.3(HRAS):c.37G>T (p.Gly13Cys)	CA295247	HGNC:25430	NCBITaxon:9606	Homo sapiens
CLINVAR:12871	biolink:SequenceVariant	NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly)	CA235350	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40678	biolink:SequenceVariant	NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg)	CA234977	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40662	biolink:SequenceVariant	NM_005633.3(SOS1):c.806T>C (p.Met269Thr)	CA235344	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40706	biolink:SequenceVariant	NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys)	CA261734	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40651	biolink:SequenceVariant	NM_005633.3(SOS1):c.508A>G (p.Lys170Glu)	CA235342	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:13957	biolink:SequenceVariant	NM_002880.3(RAF1):c.770C>T (p.Ser257Leu)	CA235334	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:13958	biolink:SequenceVariant	NM_002880.3(RAF1):c.781C>T (p.Pro261Ser)	CA257062	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:13960	biolink:SequenceVariant	NM_002880.3(RAF1):c.1837C>G (p.Leu613Val)	CA257066	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:21342	biolink:SequenceVariant	NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile)	CA261612	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40599	biolink:SequenceVariant	NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)	CA261625	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:13326	biolink:SequenceVariant	NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp)	CA220158	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:177868	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys)	CA180890	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:8274	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His)	CA119417	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:8272	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys)	CA279958	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:8275	biolink:SequenceVariant	NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)	CA279962	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:13350	biolink:SequenceVariant	NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)	CA279966	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:40781	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn)	CA180743	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:40747	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His)	CA279999	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:13351	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys)	CA280036	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:13979	biolink:SequenceVariant	NM_004333.4(BRAF):c.1741A>G (p.Asn581Asp)	CA279976	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:13965	biolink:SequenceVariant	NM_004333.4(BRAF):c.736G>C (p.Ala246Pro)	CA279968	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:13974	biolink:SequenceVariant	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	CA279970	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40346	biolink:SequenceVariant	NM_004333.4(BRAF):c.730A>C (p.Thr244Pro)	CA280025	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:44588	biolink:SequenceVariant	NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	CA134601	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:13973	biolink:SequenceVariant	NM_004333.4(BRAF):c.770A>G (p.Gln257Arg)	CA222583	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:599655	biolink:SequenceVariant	NM_004360.3:c.1137G>T	CA496153150	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:418841	biolink:SequenceVariant	NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp)	CA8130235	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:140871	biolink:SequenceVariant	NM_004360.4(CDH1):c.2396C>G (p.Pro799Arg)	CA163797	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:496233	biolink:SequenceVariant	NM_004360.3:c.535A>G	CA396457842	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:599651	biolink:SequenceVariant	NM_004360.3:c.1913G>A	CA396467238	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:136055	biolink:SequenceVariant	NM_004360.4(CDH1):c.1003C>T (p.Arg335Ter)	CA166866	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463775	biolink:SequenceVariant	NM_004360.4(CDH1):c.283C>T (p.Gln95Ter)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:156496	biolink:SequenceVariant	NM_004360.4(CDH1):c.187C>T (p.Arg63Ter)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:599653	biolink:SequenceVariant	NM_004360.3:c.2265T>A	CA396469962	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:599656	biolink:SequenceVariant	NM_004360.3:c.760G>C	CA396458612	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239914	biolink:SequenceVariant	NM_004360.4(CDH1):c.832+1G>T	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:599652	biolink:SequenceVariant	NM_004360.3:c.2161C>G	CA396467967	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:156497	biolink:SequenceVariant	NM_004360.4(CDH1):c.2398delC (p.Arg800Alafs)	CA281459	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:156499	biolink:SequenceVariant	NM_004360.4(CDH1):c.1137G>A (p.Thr379=)	CA186229	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:449341	biolink:SequenceVariant	NM_004360.5(CDH1):c.48+1G>A	CA396451431	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:599654	biolink:SequenceVariant	NM_004360.3:c.614T>C	CA396458013	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:486824	biolink:SequenceVariant	NM_004360.4(CDH1):c.382delC (p.His128Ilefs)	CA496152715	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239913	biolink:SequenceVariant	NM_004360.4(CDH1):c.79C>T (p.Pro27Ser)	CA10583401	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:479504	biolink:SequenceVariant	NM_004360.4(CDH1):c.2506G>T (p.Glu836Ter)	CA396472215	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:479488	biolink:SequenceVariant	NM_004360.4(CDH1):c.635G>T (p.Gly212Val)	CA396458057	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234554	biolink:SequenceVariant	NM_004360.4(CDH1):c.1679C>G (p.Thr560Arg)	CA10577547	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239906	biolink:SequenceVariant	NM_004360.4(CDH1):c.3G>A (p.Met1Ile)	CA10583399	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:483264	biolink:SequenceVariant	NM_004360.4(CDH1):c.1085delT (p.Val362Glyfs)	CA658658486	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:12241	biolink:SequenceVariant	NM_004360.4(CDH1):c.1792C>T (p.Arg598Ter)	CA281000	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:231647	biolink:SequenceVariant	NM_004360.5(CDH1):c.1008G>A (p.Glu336=)	CA10580100	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:187464	biolink:SequenceVariant	NM_004360.4(CDH1):c.2430delT (p.Phe810Leufs)	CA197715	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:18453	biolink:SequenceVariant	NM_004360.4(CDH1):c.1008G>T (p.Glu336Asp)	CA280990	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406663	biolink:SequenceVariant	NM_004360.4(CDH1):c.2195G>A (p.Arg732Gln)	CA16615410	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:177763	biolink:SequenceVariant	NM_000257.3(MYH7):c.2678C>T (p.Ala893Val)	CA012811	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:7826	biolink:SequenceVariant	NM_000314.6(PTEN):c.209T>C (p.Leu70Pro)	CA000350	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:185713	biolink:SequenceVariant	NM_000314.6(PTEN):c.170T>G (p.Leu57Trp)	CA000131	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7831	biolink:SequenceVariant	NM_000314.7(PTEN):c.564T>A (p.Tyr188Ter)	CA000521	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7828	biolink:SequenceVariant	NM_000314.6(PTEN):c.766G>T (p.Glu256Ter)	CA000569	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7823	biolink:SequenceVariant	NM_000314.6(PTEN):c.586delC (p.His196Thrfs)	CA000526	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:39668	biolink:SequenceVariant	NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)	CA000487	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:140807	biolink:SequenceVariant	NM_000314.6(PTEN):c.79+20C>G	CA000575	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:92820	biolink:SequenceVariant	NM_000314.6(PTEN):c.331T>C (p.Trp111Arg)	CA000401	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:39669	biolink:SequenceVariant	NM_000314.6(PTEN):c.392C>T (p.Thr131Ile)	CA000442	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428271	biolink:SequenceVariant	NM_000314.8(PTEN):c.270dup (p.Glu91Ter)	CA645369474	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428274	biolink:SequenceVariant	NM_000314.6(PTEN):c.884_900del17insG (p.Leu295Argfs)	CA645369469	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7841	biolink:SequenceVariant	NM_000314.6(PTEN):c.181C>G (p.His61Asp)	CA000330	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7849	biolink:SequenceVariant	NM_000314.6(PTEN):c.755A>G (p.Asp252Gly)	CA000564	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7839	biolink:SequenceVariant	NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)	CA000595	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7850	biolink:SequenceVariant	NM_000314.6(PTEN):c.722T>C (p.Phe241Ser)	CA000555	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7848	biolink:SequenceVariant	NM_000314.6(PTEN):c.278A>G (p.His93Arg)	CA000381	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:552907	biolink:SequenceVariant	NM_000277.1:c.1218A>G	CA6748708	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619167	biolink:SequenceVariant	NM_000277.1:c.1216A>G	CA6748709	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102567	biolink:SequenceVariant	NM_000277.2(PAH):c.1217T>C (p.Ile406Thr)	CA229398	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:551555	biolink:SequenceVariant	NM_000277.1:c.1285C>A	CA6748701	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102526	biolink:SequenceVariant	NM_000277.2(PAH):c.1101G>A (p.Leu367=)	CA229346	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619161	biolink:SequenceVariant	NM_000277.1:c.1100T>G	CA16020939	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102525	biolink:SequenceVariant	NM_000277.2(PAH):c.1100T>C (p.Leu367Pro)	CA229344	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619153	biolink:SequenceVariant	NM_000277.1:c.1099C>G	CA16020938	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102726	biolink:SequenceVariant	NM_000277.2(PAH):c.529G>A (p.Val177Met)	CA229609	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:627	biolink:SequenceVariant	NM_000277.2(PAH):c.293T>C (p.Leu98Ser)	CA114368	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:208180	biolink:SequenceVariant	NM_000277.2(PAH):c.242C>A (p.Thr81Asn)	CA275937	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:225133	biolink:SequenceVariant	NM_000277.2(PAH):c.110T>C (p.Leu37Pro)	CA357242	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:633	biolink:SequenceVariant	NM_000277.2(PAH):c.1065+3A>G	CA212751	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102905	biolink:SequenceVariant	NM_000277.2(PAH):c.940C>T (p.Pro314Ser)	CA229865	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619151	biolink:SequenceVariant	NM_000277.1:c.934G>C	CA16020901	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619162	biolink:SequenceVariant	NM_001354304.1:c.470G>C	CA16020797	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619155	biolink:SequenceVariant	NM_000277.1:c.362T>C	CA16020779	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619157	biolink:SequenceVariant	NM_000277.1:c.224A>T	CA16020751	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102882	biolink:SequenceVariant	NM_000277.2(PAH):c.865G>C (p.Gly289Arg)	CA229830	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102881	biolink:SequenceVariant	NM_000277.2(PAH):c.864G>C (p.Leu288Phe)	CA229828	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619164	biolink:SequenceVariant	NM_000277.1:c.859C>G	CA6748814	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102880	biolink:SequenceVariant	NM_000277.2(PAH):c.856G>A (p.Glu286Lys)	CA229826	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102877	biolink:SequenceVariant	NM_000277.2(PAH):c.848T>A (p.Ile283Asn)	CA229821	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619158	biolink:SequenceVariant	NM_000277.1:c.224A>G	CA16020750	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619149	biolink:SequenceVariant	NM_000277.1:c.184C>G	CA16020738	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619154	biolink:SequenceVariant	NM_000277.1:c.176A>T	CA16020736	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120279	biolink:SequenceVariant	NM_000277.2(PAH):c.568G>A (p.Val190Met)	CA267660	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102694	biolink:SequenceVariant	NM_000277.2(PAH):c.473G>C (p.Arg158Pro)	CA229571	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102667	biolink:SequenceVariant	NM_000277.2(PAH):c.434A>T (p.Asp145Val)	CA229539	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102658	biolink:SequenceVariant	NM_000277.2(PAH):c.368G>T (p.Arg123Ile)	CA286501	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102620	biolink:SequenceVariant	NM_000277.2(PAH):c.190C>A (p.His64Asn)	CA229475	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102619	biolink:SequenceVariant	NM_000277.2(PAH):c.187A>C (p.Thr63Pro)	CA229473	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102616	biolink:SequenceVariant	NM_000277.2(PAH):c.176A>G (p.Asp59Gly)	CA229468	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120266	biolink:SequenceVariant	NM_000277.2(PAH):c.164T>C (p.Phe55Ser)	CA267639	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619156	biolink:SequenceVariant	NM_000277.1:c.136G>C	CA16020731	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619148	biolink:SequenceVariant	NM_000277.1:c.817T>C	CA16020866	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619152	biolink:SequenceVariant	NM_000277.1:c.813T>G	CA16020865	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102850	biolink:SequenceVariant	NM_000277.2(PAH):c.812A>G (p.His271Arg)	CA286508	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102849	biolink:SequenceVariant	NM_000277.2(PAH):c.811C>T (p.His271Tyr)	CA229784	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102623	biolink:SequenceVariant	NM_000277.2(PAH):c.194T>A (p.Ile65Asn)	CA229479	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102817	biolink:SequenceVariant	NM_000277.2(PAH):c.740G>A (p.Gly247Asp)	CA229734	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102816	biolink:SequenceVariant	NM_000277.2(PAH):c.739G>C (p.Gly247Arg)	CA229732	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102815	biolink:SequenceVariant	NM_000277.2(PAH):c.739G>A (p.Gly247Ser)	CA229730	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619163	biolink:SequenceVariant	NM_000277.1:c.697T>A	CA16020843	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619160	biolink:SequenceVariant	NM_000277.1:c.694C>G	CA16020842	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619166	biolink:SequenceVariant	NM_000277.1:c.712A>G	CA16020847	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102772	biolink:SequenceVariant	NM_000277.2(PAH):c.650G>A (p.Cys217Tyr)	CA229674	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619165	biolink:SequenceVariant	NM_000277.1:c.803A>G	CA16020863	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:556296	biolink:SequenceVariant	NM_000277.1:c.800A>G	CA16020862	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102841	biolink:SequenceVariant	NM_000277.2(PAH):c.802T>C (p.Tyr268His)	CA229773	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102840	biolink:SequenceVariant	NM_000277.2(PAH):c.801G>C (p.Gln267His)	CA229771	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102839	biolink:SequenceVariant	NM_000277.2(PAH):c.799C>G (p.Gln267Glu)	CA229769	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:370701	biolink:SequenceVariant	NM_000277.2(PAH):c.1147C>T (p.Gln383Ter)	CA16020949	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120258	biolink:SequenceVariant	NM_000277.2(PAH):c.1066-2A>T	CA267625	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102767	biolink:SequenceVariant	NM_000277.2(PAH):c.632delC (p.Pro211Hisfs)	CA229667	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102604	biolink:SequenceVariant	NM_000277.2(PAH):c.168+1G>A	CA229452	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102588	biolink:SequenceVariant	NM_000277.2(PAH):c.1315+2T>C	CA229429	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102857	biolink:SequenceVariant	NM_000277.2(PAH):c.827T>A (p.Met276Lys)	CA229795	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102856	biolink:SequenceVariant	NM_000277.2(PAH):c.826A>G (p.Met276Val)	CA229794	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102854	biolink:SequenceVariant	NM_000277.2(PAH):c.824C>G (p.Pro275Arg)	CA229791	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102853	biolink:SequenceVariant	NM_000277.2(PAH):c.823C>T (p.Pro275Ser)	CA229789	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120286	biolink:SequenceVariant	NM_000277.2(PAH):c.796A>C (p.Thr266Pro)	CA267673	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619150	biolink:SequenceVariant	NM_000277.1:c.788T>C	CA16020857	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102833	biolink:SequenceVariant	NM_000277.2(PAH):c.789C>G (p.Phe263Leu)	CA229760	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120285	biolink:SequenceVariant	NM_000277.2(PAH):c.785T>G (p.Val262Gly)	CA267671	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619159	biolink:SequenceVariant	NM_000277.1:c.773T>C	CA16020855	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:587	biolink:SequenceVariant	NM_000277.2(PAH):c.473G>A (p.Arg158Gln)	CA251530	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102842	biolink:SequenceVariant	NM_000277.1(PAH):c.805A>C (p.Ile269Leu)	CA229775	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102823	biolink:SequenceVariant	NM_000277.1(PAH):c.754C>G (p.Arg252Gly)	CA229742	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:589	biolink:SequenceVariant	NM_000277.1(PAH):c.842C>T (p.Pro281Leu)	CA220589	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92749	biolink:SequenceVariant	NM_000277.1(PAH):c.841C>T (p.Pro281Ser)	CA220587	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:46014	biolink:SequenceVariant	NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	CA137541	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:6611	biolink:SequenceVariant	NM_004086.2(COCH):c.151C>T (p.Pro51Ser)	CA253889	HGNC:2180	NCBITaxon:9606	Homo sapiens
CLINVAR:447450	biolink:SequenceVariant	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	CA6904209	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:555720	biolink:SequenceVariant	NM_004004.5:c.674C>T	CA387460667	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:17002	biolink:SequenceVariant	NM_004004.5(GJB2):c.71G>A (p.Trp24Ter)	CA172240	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:4840	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.919-2A>G	CA261445	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:17010	biolink:SequenceVariant	NM_004004.5(GJB2):c.167delT (p.Leu56Argfs)	CA172217	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:375406	biolink:SequenceVariant	NM_004004.6(GJB2):c.-22-2A>C	CA6904346	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:43555	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.349C>T	CA132727	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:48535	biolink:SequenceVariant	NM_206933.2(USH2A):c.5581G>A (p.Gly1861Ser)	CA262105	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:6241	biolink:SequenceVariant	NM_004700.3(KCNQ4):c.853G>A (p.Gly285Ser)	CA340532	HGNC:6298	NCBITaxon:9606	Homo sapiens
CLINVAR:43498	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met)	CA261403	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:4835	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.412G>T (p.Val138Phe)	CA253312	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:166504	biolink:SequenceVariant	NM_206933.2(USH2A):c.4510dupA (p.Arg1504Lysfs)	CA273289	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:2353	biolink:SequenceVariant	NM_007123.5(USH2A):c.4338_4339delCT (p.Cys1447Glnfs)	CA252228	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:48604	biolink:SequenceVariant	NM_206933.2(USH2A):c.8559-2A>G	CA262122	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:43565	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	CA132738	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:48347	biolink:SequenceVariant	NM_206933.2(USH2A):c.1036A>C (p.Asn346His)	CA262054	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:197510	biolink:SequenceVariant	NM_206933.2(USH2A):c.8682-9A>G	CA275277	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:189148	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.365dupT (p.Ile124Tyrfs)	CA274422	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:449088	biolink:SequenceVariant	NM_000314.6(PTEN):c.97_99delATT (p.Ile33del)	-	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:102661	biolink:SequenceVariant	NM_000277.2(PAH):c.386A>G (p.Asp129Gly)	CA229527	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102858	biolink:SequenceVariant	NM_000277.2(PAH):c.827T>G (p.Met276Arg)	CA229797	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020876	biolink:SequenceVariant	NM_000277.1:c.847A>G	CA16020876	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102889	biolink:SequenceVariant	NM_000277.2(PAH):c.907T>C (p.Ser303Pro)	CA229841	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102584	biolink:SequenceVariant	NM_000277.2(PAH):c.1271T>C (p.Leu424Ser)	CA229424	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120274	biolink:SequenceVariant	NM_000277.2(PAH):c.350delC (p.Thr117Lysfs)	CA267653	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102689	biolink:SequenceVariant	NM_000277.2(PAH):c.46T>C (p.Ser16Pro)	CA229564	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020719	biolink:SequenceVariant	NM_000277.1:c.47C>A	CA16020719	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:557124	biolink:SequenceVariant	NM_000277.2(PAH):c.127G>T (p.Glu43Ter)	CA16020729	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102744	biolink:SequenceVariant	NM_000277.2(PAH):c.58C>T (p.Gln20Ter)	CA229635	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102581	biolink:SequenceVariant	NM_000277.2(PAH):c.125A>T (p.Lys42Ile)	CA229419	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102660	biolink:SequenceVariant	NM_000277.2(PAH):c.385G>T (p.Asp129Tyr)	CA286503	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102686	biolink:SequenceVariant	NM_000277.2(PAH):c.464G>A (p.Arg155His)	CA229559	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102700	biolink:SequenceVariant	NM_000277.2(PAH):c.493G>A (p.Ala165Thr)	CA229579	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102701	biolink:SequenceVariant	NM_000277.2(PAH):c.493G>C (p.Ala165Pro)	CA229581	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020800	biolink:SequenceVariant	NM_000277.3:c.494C>A	CA16020800	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102702	biolink:SequenceVariant	NM_000277.2(PAH):c.498C>A (p.Tyr166Ter)	CA229583	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102721	biolink:SequenceVariant	NM_000277.2(PAH):c.521T>C (p.Ile174Thr)	CA229604	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:555366	biolink:SequenceVariant	NM_000277.2(PAH):c.523C>T (p.Pro175Ser)	CA16020810	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:608	biolink:SequenceVariant	NM_000277.2(PAH):c.143T>C (p.Leu48Ser)	CA251539	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020761	biolink:SequenceVariant	NM_000277.3:c.292T>G	CA16020761	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102873	biolink:SequenceVariant	NM_000277.2(PAH):c.843-2A>T	CA229816	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102869	biolink:SequenceVariant	NM_000277.2(PAH):c.842+1G>T	CA229812	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102670	biolink:SequenceVariant	NM_000277.2(PAH):c.440C>T (p.Pro147Leu)	CA229543	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102735	biolink:SequenceVariant	NM_000277.2(PAH):c.559T>C (p.Trp187Arg)	CA229622	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120280	biolink:SequenceVariant	NM_000277.2(PAH):c.591G>C (p.Leu197Phe)	CA267662	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:133314	biolink:SequenceVariant	NM_000277.2(PAH):c.781C>G (p.Arg261Gly)	CA269921	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:597	biolink:SequenceVariant	NM_000277.2(PAH):c.1092_1094del (p.Leu365del)	CA229337	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120265	biolink:SequenceVariant	NM_000277.2(PAH):c.1240T>C (p.Tyr414His)	CA267637	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102605	biolink:SequenceVariant	NM_000277.2(PAH):c.168+5G>A	CA229453	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120270	biolink:SequenceVariant	NM_000277.2(PAH):c.196G>T (p.Glu66Ter)	CA267645	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120277	biolink:SequenceVariant	NM_000277.2(PAH):c.504C>A (p.Tyr168Ter)	CA267656	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020871	biolink:SequenceVariant	NM_000277.3:c.842+4A>T	CA16020871	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:208182	biolink:SequenceVariant	NM_000277.2(PAH):c.895T>C (p.Phe299Leu)	CA275941	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:40447	biolink:SequenceVariant	NM_005343.3(HRAS):c.508A>T (p.Lys170Ter)	CA296052	HGNC:5173	NCBITaxon:9606	Homo sapiens
CLINVAR:40347	biolink:SequenceVariant	NM_004333.4(BRAF):c.735A>C (p.Leu245Phe)	CA280027	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40348	biolink:SequenceVariant	NM_004333.4(BRAF):c.735A>T (p.Leu245Phe)	CA280029	HGNC:1097	NCBITaxon:9606	Homo sapiens
CA281951	biolink:SequenceVariant	NR_148928.1:n.1045T>C	CA281951	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:180784	biolink:SequenceVariant	NM_004333.4(BRAF):c.739T>C (p.Phe247Leu)	CA295904	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:55793	biolink:SequenceVariant	NM_004333.4(BRAF):c.741T>G (p.Phe247Leu)	CA284654	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:44830	biolink:SequenceVariant	NM_004333.4(BRAF):c.739T>G (p.Phe247Val)	CA135140	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:477669	biolink:SequenceVariant	NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr)	CA243707917	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40485	biolink:SequenceVariant	NM_002834.4(PTPN11):c.166A>G (p.Ile56Val)	CA180973	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:543999	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.692G>A (p.Arg231His)	CA9090854	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:40818	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu)	CA296133	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:40562	biolink:SequenceVariant	NM_002834.4(PTPN11):c.1510A>G (p.Met504Val)	CA220140	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40513	biolink:SequenceVariant	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	CA177671	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:17000	biolink:SequenceVariant	NM_004004.5(GJB2):c.101T>C (p.Met34Thr)	CA172206	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:203873	biolink:SequenceVariant	NM_000277.1(PAH):c.2T>C (p.Met1Thr)	CA312807	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:585206	biolink:SequenceVariant	NM_000277.2(PAH):c.3G>C (p.Met1Ile)	CA386303909	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102626	biolink:SequenceVariant	NM_000277.2(PAH):c.1A>T (p.Met1Leu)	CA229482	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102647	biolink:SequenceVariant	NM_000277.2(PAH):c.2T>G (p.Met1Arg)	CA229509	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020886	biolink:SequenceVariant	NM_000277.3:c.890G>T	CA16020886	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92750	biolink:SequenceVariant	NM_000277.2(PAH):c.890G>A (p.Arg297His)	CA220590	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102885	biolink:SequenceVariant	NM_000277.2(PAH):c.889C>T (p.Arg297Cys)	CA229836	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120291	biolink:SequenceVariant	NM_000277.2(PAH):c.887A>G (p.Asp296Gly)	CA267682	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020885	biolink:SequenceVariant	NM_000277.3:c.886G>C	CA16020885	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120297	biolink:SequenceVariant	NM_000277.2(PAH):c.931_932delCT (p.Leu311Glyfs)	CA267689	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120288	biolink:SequenceVariant	NM_000277.2(PAH):c.837delC (p.Glu280Asnfs)	CA267677	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:637	biolink:SequenceVariant	NM_000277.1:c.913_1199del	-	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102884	biolink:SequenceVariant	NM_000277.2(PAH):c.884C>G (p.Ser295Ter)	CA229834	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020846	biolink:SequenceVariant	NM_000277.3:c.707-2del	CA16020846	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102886	biolink:SequenceVariant	NM_000277.2(PAH):c.895_897delTTT (p.Phe299del)	CA229837	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020889	biolink:SequenceVariant	NM_000277.3:c.902A>C	CA16020889	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA346365197	biolink:SequenceVariant	NM_005633.3:c.1867T>A	CA346365197	HGNC:11187	NCBITaxon:9606	Homo sapiens
CA891862608	biolink:SequenceVariant	NM_005633.3:c.1867_1869delinsGAA	CA891862608	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:45373	biolink:SequenceVariant	NM_005633.3(SOS1):c.512T>C (p.Val171Ala)	CA261743	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:8273	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val)	CA279960	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:13331	biolink:SequenceVariant	NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met)	CA220134	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:13333	biolink:SequenceVariant	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	CA220146	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:158604	biolink:SequenceVariant	NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)	CA172208	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:162956	biolink:SequenceVariant	NM_022124.5(CDH23):c.9566G>A (p.Arg3189Gln)	CA175533	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:177732	biolink:SequenceVariant	NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)	CA180669	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:44760	biolink:SequenceVariant	NM_004004.5(GJB2):c.571T>C (p.Phe191Leu)	CA134989	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:4838	biolink:SequenceVariant	NM_000441.1(SLC26A4):c.-103T>C	CA253314	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:17023	biolink:SequenceVariant	NM_004004.5(GJB2):c.109G>A (p.Val37Ile)	CA172210	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:120260	biolink:SequenceVariant	NM_000277.2(PAH):c.1163T>C (p.Val388Ala)	CA267628	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:7817	biolink:SequenceVariant	NM_000314.6(PTEN):c.370T>C (p.Cys124Arg)	CA000422	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:223142	biolink:SequenceVariant	NM_000314.6(PTEN):c.740T>C (p.Leu247Ser)	CA16044135	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:375958	biolink:SequenceVariant	NM_000314.6(PTEN):c.388C>G (p.Arg130Gly)	CA16602437	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:375959	biolink:SequenceVariant	NM_000314.6(PTEN):c.477G>T (p.Arg159Ser)	CA16602438	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189403	biolink:SequenceVariant	NM_000314.6(PTEN):c.284C>T (p.Pro95Leu)	CA000383	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:187827	biolink:SequenceVariant	NM_000314.6(PTEN):c.545T>C (p.Leu182Ser)	CA000177	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142212	biolink:SequenceVariant	NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)	CA000277	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:237639	biolink:SequenceVariant	NM_000314.7(PTEN):c.1093G>A (p.Val365Ile)	CA059160	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:184466	biolink:SequenceVariant	NM_000314.6(PTEN):c.841C>G (p.Pro281Ala)	CA000211	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:427623	biolink:SequenceVariant	NM_000314.6(PTEN):c.634+5G>C	CA645509438	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:372481	biolink:SequenceVariant	NM_000314.6(PTEN):c.320A>T (p.Asp107Val)	CA16042748	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:372482	biolink:SequenceVariant	NM_000314.6(PTEN):c.1027-1G>A	CA16042723	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:184844	biolink:SequenceVariant	NM_000314.6(PTEN):c.700C>T (p.Arg234Trp)	CA000183	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:376510	biolink:SequenceVariant	NM_000314.6(PTEN):c.698G>A (p.Arg233Gln)	CA060404	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:139567	biolink:SequenceVariant	NM_000314.8(PTEN):c.338G>T (p.Ser113Ile)	CA000405	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:237643	biolink:SequenceVariant	NM_000314.6(PTEN):c.195C>G (p.Tyr65Ter)	CA10582757	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7843	biolink:SequenceVariant	NM_000314.6(PTEN):c.507delC (p.Ser170Valfs)	CA000490	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428216	biolink:SequenceVariant	NM_000314.8(PTEN):c.441_442delinsA (p.Ala148fs)	CA645369482	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7845	biolink:SequenceVariant	NM_000314.6(PTEN):c.-861G>T	CA000612	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428206	biolink:SequenceVariant	NM_000314.6(PTEN):c.512dup (p.Arg172Glufs)	CA645369422	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7825	biolink:SequenceVariant	NM_000314.6(PTEN):c.104T>G (p.Met35Arg)	CA000268	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7821	biolink:SequenceVariant	NM_000314.6(PTEN):c.492+2T>G	CA000475	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7822	biolink:SequenceVariant	NM_000314.6(PTEN):c.696delA (p.Arg233Aspfs)	CA000548	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:7840	biolink:SequenceVariant	NM_000314.6(PTEN):c.701G>A (p.Arg234Gln)	CA000551	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:186427	biolink:SequenceVariant	NM_000314.6(PTEN):c.304A>C (p.Lys102Gln)	CA000139	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142261	biolink:SequenceVariant	NM_000314.6(PTEN):c.314G>A (p.Cys105Tyr)	CA000393	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:186161	biolink:SequenceVariant	NM_000314.6(PTEN):c.364A>G (p.Ile122Val)	CA000147	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:184878	biolink:SequenceVariant	NM_000314.6(PTEN):c.715A>G (p.Met239Val)	CA000189	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:127696	biolink:SequenceVariant	NM_000314.6(PTEN):c.914G>A (p.Ser305Asn)	CA000632	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:45304	biolink:SequenceVariant	NM_005343.3(HRAS):c.412G>A (p.Gly138Ser)	CA135988	HGNC:5173	NCBITaxon:9606	Homo sapiens
CA16020890	biolink:SequenceVariant	NM_000277.3:c.903G>T	CA16020890	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:376018	biolink:SequenceVariant	NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter)	CA16602487	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:545522	biolink:SequenceVariant	NM_001754.5(RUNX1):c.679G>T (p.Glu227Ter)	CA410206910	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14467	biolink:SequenceVariant	NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter)	CA248619	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561222	biolink:SequenceVariant	NM_001754.4(RUNX1):c.1163C>A (p.Ser388Ter)	CA410147908	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14465	biolink:SequenceVariant	NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)	CA248613	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:429813	biolink:SequenceVariant	NM_001754.4(RUNX1):c.367G>C (p.Asp123His)	CA10014524	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14468	biolink:SequenceVariant	NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro)	CA248623	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14471	biolink:SequenceVariant	NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu)	CA248628	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:417961	biolink:SequenceVariant	NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln)	CA16616941	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:212089	biolink:SequenceVariant	NM_001754.4(RUNX1):c.557T>A (p.Val186Asp)	CA248819	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14464	biolink:SequenceVariant	NM_001754.4(RUNX1):c.602G>A (p.Arg201Gln)	CA248610	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:666273	biolink:SequenceVariant	NM_001754.4:c.1395C>A	CA410146870	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463988	biolink:SequenceVariant	NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs)	CA658656806	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14470	biolink:SequenceVariant	NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)	CA248627	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:436616	biolink:SequenceVariant	NM_001754.5(RUNX1):c.352-1G>A	CA410202793	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14463	biolink:SequenceVariant	NM_001754.4(RUNX1):c.352-1G>T	CA248609	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409822	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+1G>C	CA16616270	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:14466	biolink:SequenceVariant	NM_001754.4(RUNX1):c.508+3delA	CA248618	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532664	biolink:SequenceVariant	NM_001754.5:c.1412_1413dup	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339874	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1422G>T (p.Glu474Asp)	CA10652929	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532662	biolink:SequenceVariant	NM_001754.4(RUNX1):c.1160G>C (p.Gly387Ala)	CA410147917	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:436618	biolink:SequenceVariant	NM_001754.4(RUNX1):c.259G>T (p.Gly87Cys)	CA10014559	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:239044	biolink:SequenceVariant	NM_001754.4(RUNX1):c.155T>A (p.Met52Lys)	CA10014581	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532659	biolink:SequenceVariant	NM_001754.4(RUNX1):c.563C>G (p.Thr188Ser)	CA410208042	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561246	biolink:SequenceVariant	NM_001754.5(RUNX1):c.532A>C (p.Thr178Pro)	CA410208110	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561243	biolink:SequenceVariant	NM_001754.5(RUNX1):c.502G>A (p.Gly168Arg)	CA410202479	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463994	biolink:SequenceVariant	NM_001754.4(RUNX1):c.391A>G (p.Thr131Ala)	CA410202714	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532671	biolink:SequenceVariant	NM_001754.4(RUNX1):c.331A>G (p.Thr111Ala)	CA410203415	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:436617	biolink:SequenceVariant	NM_001754.4(RUNX1):c.316T>A (p.Trp106Arg)	CA410203508	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561233	biolink:SequenceVariant	NM_001754.5(RUNX1):c.314A>C (p.His105Pro)	CA410203519	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:666274	biolink:SequenceVariant	NM_001754.4:c.315C>A	CA410203511	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:417477	biolink:SequenceVariant	NC_000021.9:g.(?_34787801)_(34799462_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463975	biolink:SequenceVariant	NC_000021.9:g.(?_35048836)_(35048905_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:254081	biolink:SequenceVariant	NM_001754.4(RUNX1):c.509-?_613+?del	-		NCBITaxon:9606	Homo sapiens
CLINVAR:120275	biolink:SequenceVariant	NM_000277.2(PAH):c.441+6T>A	CA267654	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102892	biolink:SequenceVariant	NM_000277.2(PAH):c.912G>A (p.Gln304=)	CA229845	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020877	biolink:SequenceVariant	NM_000277.1:c.868C>T	CA16020877	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:125436	biolink:SequenceVariant	NM_000277.2(PAH):c.505C>T (p.Arg169Cys)	CA267693	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120278	biolink:SequenceVariant	NM_000277.2(PAH):c.547_548delGAinsTT (p.Glu183Leu)	CA267658	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102832	biolink:SequenceVariant	NM_000277.1(PAH):c.782G>C (p.Arg261Pro)	CA229759	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020720	biolink:SequenceVariant	NM_000277.1:c.48dup	CA16020720	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102749	biolink:SequenceVariant	NM_000277.2(PAH):c.59A>T (p.Gln20Leu)	CA229641	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102757	biolink:SequenceVariant	NM_000277.2(PAH):c.60G>C (p.Gln20His)	CA229651	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020722	biolink:SequenceVariant	NM_000277.1:c.60+4A>T	CA16020722	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020714	biolink:SequenceVariant	NM_000277.1:c.13del	CA16020714	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020715	biolink:SequenceVariant	NM_000277.1:c.30dup	CA16020715	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020716	biolink:SequenceVariant	NM_000277.1:c.43_44insAG	CA16020716	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:21385	biolink:SequenceVariant	NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	CA342004	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:444219	biolink:SequenceVariant	NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys)	CA5544361	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:2356	biolink:SequenceVariant	NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe)	CA252233	HGNC:12601	NCBITaxon:9606	Homo sapiens
CA891862634	biolink:SequenceVariant	NM_000277.1:c.47_48insCT	CA891862634	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102597	biolink:SequenceVariant	NM_000277.2(PAH):c.137delG (p.Gly46Valfs)	CA229440	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120310	biolink:SequenceVariant	NM_000277.2(PAH):c.155delT (p.Leu52Cysfs)	CA267691	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:611	biolink:SequenceVariant	NM_000277.2(PAH):c.165delT (p.Phe55Leufs)	CA251540	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16021002	biolink:SequenceVariant	NM_001354304.1:c.60+5_60+6del	CA16021002	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102531	biolink:SequenceVariant	NM_000277.1(PAH):c.111_112insG (p.Ile38Aspfs)	CA229354	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020735	biolink:SequenceVariant	NM_000277.3:c.171_172del	CA16020735	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA913184971	biolink:SequenceVariant	NM_000277.3:c.184_185insCTGA	CA913184971	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020737	biolink:SequenceVariant	NM_000277.3:c.184del	CA16020737	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020872	biolink:SequenceVariant	NM_000277.3:c.842+6T>A	CA16020872	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020746	biolink:SequenceVariant	NM_000277.3:c.206dup	CA16020746	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA913184978	biolink:SequenceVariant	NM_000277.3:c.189_190dup	CA913184978	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020742	biolink:SequenceVariant	NM_000277.3:c.190_194del	CA16020742	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020759	biolink:SequenceVariant	NM_000277.3:c.266_267insG	CA16020759	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020888	biolink:SequenceVariant	NM_000277.3:c.901C>T	CA16020888	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102888	biolink:SequenceVariant	NM_000277.2(PAH):c.904delT (p.Ser303Profs)	CA229840	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020730	biolink:SequenceVariant	NM_000277.3:c.134T>C	CA16020730	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020721	biolink:SequenceVariant	NM_000277.1:c.59A>C	CA16020721	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102607	biolink:SequenceVariant	NM_000277.2(PAH):c.168+5G>T	CA229455	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102613	biolink:SequenceVariant	NM_000277.2(PAH):c.169_171delGAG (p.Glu57del)	CA229461	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:555212	biolink:SequenceVariant	NM_000277.3(PAH):c.169-2A>G	CA16020734	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:2355	biolink:SequenceVariant	NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	CA252231	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:140803	biolink:SequenceVariant	NM_004360.3(CDH1):c.521dupA (p.Asn174Lysfs)	CA163603	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:545785	biolink:SequenceVariant	NM_004360.3(CDH1):c.454_460delCAGAAGA (p.Gln152Glufs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:582514	biolink:SequenceVariant	NM_004360.4(CDH1):c.363C>A (p.His121Gln)	CA8129833	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:545738	biolink:SequenceVariant	NM_004360.3(CDH1):c.2276delG (p.Gly759Glufs)	CA496157186	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:578952	biolink:SequenceVariant	NM_004360.4(CDH1):c.1107del (p.Asn369Lysfs)	CA891843861	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463743	biolink:SequenceVariant	NM_004360.4(CDH1):c.2104G>T (p.Glu702Ter)	CA396467856	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:142888	biolink:SequenceVariant	NM_004360.4(CDH1):c.1147C>T (p.Gln383Ter)	CA169687	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:141206	biolink:SequenceVariant	NM_004360.4(CDH1):c.1565+1G>T	CA164768	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406669	biolink:SequenceVariant	NM_004360.4(CDH1):c.2324delG (p.Gly775Alafs)	CA16615415	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:483251	biolink:SequenceVariant	NM_004360.4(CDH1):c.2029dup (p.Gln677Profs)	CA658658496	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406628	biolink:SequenceVariant	NM_004360.4(CDH1):c.1895_1896delAC (p.His632Argfs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406616	biolink:SequenceVariant	NM_004360.5(CDH1):c.377del (p.Pro126fs)	CA16614939	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:483227	biolink:SequenceVariant	NM_004360.4(CDH1):c.308G>A (p.Trp103Ter)	CA396457352	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:422315	biolink:SequenceVariant	NM_004360.4(CDH1):c.315delC (p.Thr106Profs)	CA16620235	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463742	biolink:SequenceVariant	NM_004360.4(CDH1):c.208dup (p.Ser70Phefs)	CA645596587	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239891	biolink:SequenceVariant	NM_004360.4(CDH1):c.220C>T (p.Arg74Ter)	CA10583404	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:231923	biolink:SequenceVariant	NM_004360.4(CDH1):c.1137+1delG	CA10580105	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:567608	biolink:SequenceVariant	NM_004360.4(CDH1):c.687+1G>A	CA396458162	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:187239	biolink:SequenceVariant	NM_004360.4(CDH1):c.60G>A (p.Trp20Ter)	CA197127	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:233979	biolink:SequenceVariant	NM_004360.5(CDH1):c.1137+1G>A	CA10580104	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:230451	biolink:SequenceVariant	NM_004360.4(CDH1):c.2293C>T (p.Gln765Ter)	CA10580156	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:156374	biolink:SequenceVariant	NM_004360.4(CDH1):c.1023T>G (p.Tyr341Ter)	CA281453	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234595	biolink:SequenceVariant	NM_004360.4(CDH1):c.468G>A (p.Trp156Ter)	CA10577537	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234594	biolink:SequenceVariant	NM_004360.4(CDH1):c.337A>T (p.Lys113Ter)	CA10577535	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:183750	biolink:SequenceVariant	NM_004360.4(CDH1):c.76G>T (p.Glu26Ter)	CA186314	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:12240	biolink:SequenceVariant	NM_004360.4(CDH1):c.70G>T (p.Glu24Ter)	CA280997	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406646	biolink:SequenceVariant	NM_004360.4(CDH1):c.225C>G (p.Phe75Leu)	CA8129814	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:491538	biolink:SequenceVariant	NM_004360.4(CDH1):c.457_460delAAGA (p.Lys153Glufs)	CA658683946	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406644	biolink:SequenceVariant	NM_004360.4(CDH1):c.532-1G>C	CA8129891	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:12234	biolink:SequenceVariant	NM_004360.4(CDH1):c.781G>T (p.Glu261Ter)	CA121997	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:567085	biolink:SequenceVariant	NM_004360.4(CDH1):c.1460_1461del (p.Val487Alafs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:182393	biolink:SequenceVariant	NM_004360.4(CDH1):c.707C>A (p.Ser236Ter)	CA298974	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:230948	biolink:SequenceVariant	NM_004360.4(CDH1):c.604G>C (p.Val202Leu)	CA10580088	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:419385	biolink:SequenceVariant	NM_004360.4(CDH1):c.-49_-48insGCCCG	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:141661	biolink:SequenceVariant	NM_004360.5(CDH1):c.387+1G>A	CA166072	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:496819	biolink:SequenceVariant	NM_004360.4(CDH1):c.2594G>A (p.Trp865Ter)	CA396472624	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428618	biolink:SequenceVariant	NM_004360.4(CDH1):c.531+1G>A	CA396457824	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:492677	biolink:SequenceVariant	NM_004360.4(CDH1):c.2100del (p.Val701Serfs)	CA658683961	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:12236	biolink:SequenceVariant	NM_004360.4(CDH1):c.2386dup (p.Arg796Profs)	CA723143791	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:185408	biolink:SequenceVariant	NM_004360.4(CDH1):c.202delT (p.Tyr68Ilefs)	CA191858	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:230956	biolink:SequenceVariant	NM_004360.4(CDH1):c.124_126delCCCinsT (p.Pro42Serfs)	CA10580072	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:12239	biolink:SequenceVariant	NM_004360.4(CDH1):c.59G>A (p.Trp20Ter)	CA280996	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:548782	biolink:SequenceVariant	NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	CA396451249	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:179479	biolink:SequenceVariant	NM_000260.3(MYO7A):c.3503G>A (p.Arg1168Gln)	CA184505	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:141951	biolink:SequenceVariant	NM_004360.4(CDH1):c.2549_2550delCC (p.Ser850Phefs)	CA166884	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239909	biolink:SequenceVariant	NM_004360.5(CDH1):c.5G>T (p.Gly2Val)	CA10583400	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428628	biolink:SequenceVariant	NM_004360.4(CDH1):c.1711+1G>A	CA396465476	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:279747	biolink:SequenceVariant	NM_004360.3(CDH1):c.1711+1G>C	CA10603548	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:186618	biolink:SequenceVariant	NM_004360.4(CDH1):c.1711+2_1711+7delTAAGGG	CA195350	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:43528	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	CA261421	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:43527	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)	CA132685	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:255733	biolink:SequenceVariant	NM_000277.2(PAH):c.*19G>T	CA6748669	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:616	biolink:SequenceVariant	NM_000277.1(PAH):c.965C>G (p.Ala322Gly)	CA114363	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:430401	biolink:SequenceVariant	NM_000277.2(PAH):c.637C>T (p.Leu213Phe)	CA386296662	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:194161	biolink:SequenceVariant	NM_000277.2(PAH):c.1357_*2delTAAAG (p.Ter453Profs)	-	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102565	biolink:SequenceVariant	NM_000277.2(PAH):c.1200-8G>A	CA229395	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:439227	biolink:SequenceVariant	NM_000277.2(PAH):c.442-18G>A	CA6748923	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102674	biolink:SequenceVariant	NM_000277.2(PAH):c.441+4A>G	CA229548	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102633	biolink:SequenceVariant	NM_000277.1(PAH):c.212G>A (p.Arg71His)	CA286499	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120292	biolink:SequenceVariant	NM_000277.2(PAH):c.912+2T>C	CA267684	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120296	biolink:SequenceVariant	NM_000277.2(PAH):c.916delA (p.Ile306Leufs)	CA267688	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120268	biolink:SequenceVariant	NM_000277.2(PAH):c.169G>T (p.Glu57Ter)	CA267642	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102608	biolink:SequenceVariant	NM_000277.2(PAH):c.168+6T>G	CA229456	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:40842	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln)	CA296157	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:181510	biolink:SequenceVariant	NM_002880.3:c.835G>A	CA297121	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:180859	biolink:SequenceVariant	NC_000012.12:g.25209854T>A	CA296087	HGNC:6407	NCBITaxon:9606	Homo sapiens
CA346367589	biolink:SequenceVariant	NM_005633.3:c.844T>C	CA346367589	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:438172	biolink:SequenceVariant	NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)	CA6197628	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:45366	biolink:SequenceVariant	NM_005633.3(SOS1):c.3703C>T (p.Pro1235Ser)	CA136146	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:4928	biolink:SequenceVariant	NM_022124.5(CDH23):c.719C>T (p.Pro240Leu)	CA253338	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:590799	biolink:SequenceVariant	NM_004004.5(GJB2):c.516G>C (p.Trp172Cys)	CA387460990	HGNC:4284	NCBITaxon:9606	Homo sapiens
CA16020920	biolink:SequenceVariant	NM_000277.3:c.1029T>A	CA16020920	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA6748732	biolink:SequenceVariant	NM_000277.3:c.1174T>A	CA6748732	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:4926	biolink:SequenceVariant	NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp)	CA117145	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:48503	biolink:SequenceVariant	NM_206933.4:c.3547_3548del	-	HGNC:12601	NCBITaxon:9606	Homo sapiens
CA16020771	biolink:SequenceVariant	NM_000277.3:c.353-2A>G	CA16020771	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020929	biolink:SequenceVariant	NM_000277.3:c.1066-1G>C	CA16020929	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020930	biolink:SequenceVariant	NM_000277.3:c.1066-1G>T	CA16020930	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:604	biolink:SequenceVariant	NM_000277.3(PAH):c.281_283TCA[1] (p.Ile95del)	CA251535	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102672	biolink:SequenceVariant	NM_000277.3(PAH):c.441+3G>C	CA229546	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:438177	biolink:SequenceVariant	NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)	CA381946913	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:430229	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	CA4432734	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:179773	biolink:SequenceVariant	NM_206933.3(USH2A):c.5012G>A (p.Gly1671Asp)	CA185105	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:48395	biolink:SequenceVariant	NM_206933.3(USH2A):c.12295-3T>A	CA143283	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:226441	biolink:SequenceVariant	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	CA16044155	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:43521	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	CA132675	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:43186	biolink:SequenceVariant	NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)	CA132255	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:48544	biolink:SequenceVariant	NM_206933.3(USH2A):c.5857+2T>C	CA262109	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:48417	biolink:SequenceVariant	NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	CA143316	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:429984	biolink:SequenceVariant	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	CA387460893	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:290125	biolink:SequenceVariant	NM_005633.3(SOS1):c.2728G>C (p.Asp910His)	CA1624337	HGNC:11187	NCBITaxon:9606	Homo sapiens
CA16020924	biolink:SequenceVariant	NM_000277.3:c.1066-12del	CA16020924	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020966	biolink:SequenceVariant	NM_000277.3:c.1200-1G>C	CA16020966	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102589	biolink:SequenceVariant	NM_000277.3(PAH):c.1315+4A>G	CA229430	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020931	biolink:SequenceVariant	NM_000277.3:c.1066T>G	CA16020931	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102590	biolink:SequenceVariant	NM_000277.3(PAH):c.1315+6T>A	CA229431	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:585208	biolink:SequenceVariant	NM_000277.2(PAH):c.782G>T (p.Arg261Leu)	CA386295444	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120293	biolink:SequenceVariant	NM_000277.2(PAH):c.912+3A>C	CA267685	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120295	biolink:SequenceVariant	NM_000277.2(PAH):c.913-8A>G	CA267687	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120294	biolink:SequenceVariant	NM_000277.2(PAH):c.913-3C>G	CA267686	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:549954	biolink:SequenceVariant	NM_000277.3(PAH):c.379G>A (p.Glu127Lys)	CA16020781	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020754	biolink:SequenceVariant	NM_000277.3:c.232G>C	CA16020754	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020755	biolink:SequenceVariant	NM_000277.3:c.233A>T	CA16020755	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:872832	biolink:SequenceVariant	NM_000277.3:c.361T>G	CA16020778	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020782	biolink:SequenceVariant	NM_000277.3:c.380A>G	CA16020782	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:872834	biolink:SequenceVariant	NM_000277.3:c.442G>C	CA16020789	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:164724	biolink:SequenceVariant	NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)	CA278724	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:178667	biolink:SequenceVariant	NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)	CA278736	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:43335	biolink:SequenceVariant	NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)	CA278713	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:43541	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	CA261425	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:208366	biolink:SequenceVariant	NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)	-	HGNC:6298	NCBITaxon:9606	Homo sapiens
CLINVAR:43292	biolink:SequenceVariant	NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)	CA278687	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:422345	biolink:SequenceVariant	NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)	CA5546544	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:228484	biolink:SequenceVariant	NM_022124.6(CDH23):c.1515-12G>A	CA5543878	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:228500	biolink:SequenceVariant	NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)	CA10576816	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:181547	biolink:SequenceVariant	NM_005633.3:c.643T>C	CA297253	HGNC:11187	NCBITaxon:9606	Homo sapiens
CA378386067	biolink:SequenceVariant	NR_136749.1:n.116-20704A>T	CA378386067	HGNC:15454	NCBITaxon:9606	Homo sapiens
CLINVAR:428277	biolink:SequenceVariant	NM_000314.7(PTEN):c.367C>G (p.His123Asp)	CA377482278	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142878	biolink:SequenceVariant	NM_000314.7(PTEN):c.1027-4C>G	CA000260	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:40498	biolink:SequenceVariant	NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln)	CA261565	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:279960	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met)	CA9090685	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:13341	biolink:SequenceVariant	NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met)	CA256755	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:484600	biolink:SequenceVariant	NM_000314.7(PTEN):c.1A>G (p.Met1Val)	CA377781751	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142018	biolink:SequenceVariant	NM_000314.7(PTEN):c.389G>C (p.Arg130Pro)	CA000439	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:234144	biolink:SequenceVariant	NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys)	CA10578936	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:404168	biolink:SequenceVariant	NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys)	CA16613246	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:102573	biolink:SequenceVariant	NM_000277.3(PAH):c.122T>C (p.Leu41Pro)	CA229408	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:629	biolink:SequenceVariant	NM_000277.3(PAH):c.136G>A (p.Gly46Ser)	CA229439	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102680	biolink:SequenceVariant	NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	CA229551	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102685	biolink:SequenceVariant	NM_000277.3(PAH):c.460T>C (p.Tyr154His)	CA229557	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020948	biolink:SequenceVariant	NM_000277.3:c.1146C>G	CA16020948	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102915	biolink:SequenceVariant	NM_000277.3(PAH):c.969+5G>A	CA229879	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:872836	biolink:SequenceVariant	NM_000277.3:c.1315+5G>C	CA16020995	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:427599	biolink:SequenceVariant	NM_000314.7(PTEN):c.635-3C>G	CA645294060	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428256	biolink:SequenceVariant	NM_000314.7(PTEN):c.493G>A (p.Gly165Arg)	CA377484223	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:127688	biolink:SequenceVariant	NM_000314.7(PTEN):c.112C>T (p.Pro38Ser)	CA000297	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189415	biolink:SequenceVariant	NM_000314.7(PTEN):c.610C>G (p.Pro204Ala)	CA000535	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:404160	biolink:SequenceVariant	NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)	CA16613238	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:418653	biolink:SequenceVariant	NM_000314.7(PTEN):c.947T>C (p.Leu316Pro)	CA16619068	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:421055	biolink:SequenceVariant	NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs)	CA16619071	HGNC:9588	NCBITaxon:9606	Homo sapiens
CA410202469	biolink:SequenceVariant	NM_001754.4:c.506G>T	CA410202469	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA645614124	biolink:SequenceVariant	NM_001754.4:c.968-10C>A	CA645614124	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561253	biolink:SequenceVariant	NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	CA410207938	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:627342	biolink:SequenceVariant	NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)	CA410207972	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:869209	biolink:SequenceVariant	NM_001754.5(RUNX1):c.334del (p.Leu112fs)	CA512318822	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:869210	biolink:SequenceVariant	NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu)	CA410207966	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:618862	biolink:SequenceVariant	NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter)	CA410149580	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532683	biolink:SequenceVariant	NM_001754.4(RUNX1):c.111C>T (p.Ser37=)	CA512318995	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464005	biolink:SequenceVariant	NM_001754.5(RUNX1):c.714C>T (p.Val238=)	CA10014369	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:234282	biolink:SequenceVariant	NM_004360.5(CDH1):c.-50C>G	CA10577530	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:422227	biolink:SequenceVariant	NM_004360.5(CDH1):c.-50C>T	CA16620222	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:420004	biolink:SequenceVariant	NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)	CA16620236	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463795	biolink:SequenceVariant	NM_004360.5(CDH1):c.832+1G>A	CA396459027	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:437928	biolink:SequenceVariant	NM_004360.4(CDH1):c.1612delG (p.Asp538Thrfs)	CA645509536	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:229907	biolink:SequenceVariant	NM_004360.4(CDH1):c.1488_1494delCGAGGAC (p.Glu497Leufs)	CA10580117	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:231528	biolink:SequenceVariant	NM_004360.3(CDH1):c.1476_1477delAG (p.Arg492Serfs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:224528	biolink:SequenceVariant	NM_004360.4(CDH1):c.1064delT (p.Leu355Terfs)	CA336431	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428620	biolink:SequenceVariant	NM_004360.3(CDH1):c.603delT (p.Val202Leufs)	CA645369675	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:220776	biolink:SequenceVariant	NM_004360.4(CDH1):c.504delA (p.Gly169Alafs)	CA348941	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428626	biolink:SequenceVariant	NM_004360.4(CDH1):c.454_460dup (p.Arg154Thrfs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463772	biolink:SequenceVariant	NM_004360.4(CDH1):c.261delG (p.Arg87Serfs)	CA658658476	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406624	biolink:SequenceVariant	NM_004360.4(CDH1):c.1565+2dupT	CA16614980	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463790	biolink:SequenceVariant	NM_004360.4(CDH1):c.687+2T>C	CA396458165	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:569046	biolink:SequenceVariant	NM_004360.4(CDH1):c.457A>T (p.Lys153Ter)	CA396457656	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239903	biolink:SequenceVariant	NM_004360.5(CDH1):c.360dup (p.His121fs)	CA10583408	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463781	biolink:SequenceVariant	NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:418533	biolink:SequenceVariant	NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr)	CA1396311	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:281818	biolink:SequenceVariant	NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys)	CA1393449	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:133312	biolink:SequenceVariant	NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)	CA269917	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:196222	biolink:SequenceVariant	NM_000152.4(GAA):c.688G>A (p.Val230Met)	CA207869	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:325774	biolink:SequenceVariant	NM_000152.5(GAA):c.131G>T (p.Gly44Val)	CA8814793	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:557429	biolink:SequenceVariant	NM_000152.4(GAA):c.-32-1G>C	CA658824771	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:230112	biolink:SequenceVariant	NM_000546.6(TP53):c.206C>G (p.Ala69Gly)	CA10580956	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:406578	biolink:SequenceVariant	NM_000546.6(TP53):c.537T>A (p.His179Gln)	CA16615708	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:127819	biolink:SequenceVariant	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	CA000315	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:142766	biolink:SequenceVariant	NM_000546.5(TP53):c.455C>T (p.Pro152Leu)	CA000204	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:245711	biolink:SequenceVariant	NM_000546.5(TP53):c.538G>A (p.Glu180Lys)	CA10584590	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:233951	biolink:SequenceVariant	NM_000546.5(TP53):c.517G>A (p.Val173Met)	CA10577579	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:127814	biolink:SequenceVariant	NM_000546.5(TP53):c.488A>G (p.Tyr163Cys)	CA000240	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:376615	biolink:SequenceVariant	NM_000546.5(TP53):c.641A>G (p.His214Arg)	CA16040595	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12375	biolink:SequenceVariant	NM_000546.5(TP53):c.1031T>C (p.Leu344Pro)	CA000021	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:93323	biolink:SequenceVariant	NM_000546.5(TP53):c.892G>T (p.Glu298Ter)	CA000484	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12347	biolink:SequenceVariant	NM_000546.5(TP53):c.742C>T (p.Arg248Trp)	CA000382	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:43587	biolink:SequenceVariant	NM_000546.5(TP53):c.1040C>A (p.Ala347Asp)	CA000022	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:230253	biolink:SequenceVariant	NM_000546.5(TP53):c.743G>T (p.Arg248Leu)	CA10580924	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:482223	biolink:SequenceVariant	NM_000546.5(TP53):c.532C>G (p.His178Asp)	CA397841387	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:376563	biolink:SequenceVariant	NM_000546.5(TP53):c.403T>G (p.Cys135Gly)	CA16602989	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:428898	biolink:SequenceVariant	NM_000546.5(TP53):c.993+1delG	CA645369685	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:458537	biolink:SequenceVariant	NM_000546.5(TP53):c.372C>A (p.Cys124Ter)	CA397844214	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:804214	biolink:SequenceVariant	NM_001276761.1:c.311T>C	CA397842518	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12366	biolink:SequenceVariant	NM_000546.5(TP53):c.818G>A (p.Arg273His)	CA000434	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12356	biolink:SequenceVariant	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	CA000387	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:182969	biolink:SequenceVariant	NM_000546.5(TP53):c.1000G>C (p.Gly334Arg)	CA000007	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:376612	biolink:SequenceVariant	NM_001126115.1(TP53):c.182A>C (p.His61Pro)	CA16603033	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:102752	biolink:SequenceVariant	NM_000277.1(PAH):c.601C>T (p.His201Tyr)	CA229643	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020725	biolink:SequenceVariant	NM_000277.3:c.61-3T>C	CA16020725	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020790	biolink:SequenceVariant	NM_000277.3:c.443G>A	CA16020790	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:619705	biolink:SequenceVariant	NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)	CA16020795	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102684	biolink:SequenceVariant	NM_000277.3(PAH):c.460T>A (p.Tyr154Asn)	CA229556	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102662	biolink:SequenceVariant	NM_000277.2(PAH):c.386A>T (p.Asp129Val)	CA229529	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102722	biolink:SequenceVariant	NM_000277.3(PAH):c.523C>G (p.Pro175Ala)	CA229605	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:286662	biolink:SequenceVariant	NM_000277.2(PAH):c.1002C>T (p.Cys334=)	CA6748769	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:422049	biolink:SequenceVariant	NM_000277.2(PAH):c.757G>A (p.Asp253Asn)	CA6748845	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102916	biolink:SequenceVariant	NM_000277.2(PAH):c.969+6T>A	CA229880	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020739	biolink:SequenceVariant	NM_000277.1:c.185T>C	CA16020739	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:501777	biolink:SequenceVariant	NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)	CA8815251	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:526521	biolink:SequenceVariant	NM_000152.4(GAA):c.1438-2A>G	CA401366755	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:286458	biolink:SequenceVariant	NM_000152.4(GAA):c.1754+1G>A	CA10605471	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:283971	biolink:SequenceVariant	NM_000152.5(GAA):c.1888+5G>T	CA8815512	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:288505	biolink:SequenceVariant	NM_000152.4(GAA):c.736delC (p.Leu246Phefs)	CA10606113	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188936	biolink:SequenceVariant	NM_000152.4(GAA):c.1827delC (p.Tyr609Terfs)	CA274153	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188904	biolink:SequenceVariant	NM_000152.4(GAA):c.2140delC (p.His714Thrfs)	CA274107	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189025	biolink:SequenceVariant	NM_000152.3(GAA):c.1548G>A (p.Trp516Ter)	CA274281	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189009	biolink:SequenceVariant	NM_000152.3(GAA):c.2608C>T (p.Arg870Ter)	CA274250	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:526535	biolink:SequenceVariant	NM_000152.4(GAA):c.93_95del (p.Leu32del)	CA628018663	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550713	biolink:SequenceVariant	NM_000152.4(GAA):c.400_408dup (p.Tyr136_Lys137insProSerTyr)	-	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556985	biolink:SequenceVariant	NM_000152.4(GAA):c.1336_1356dup (p.Ala452_Gly453insIleSerSerSerGlyProAla)	CA658824782	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:932898	biolink:SequenceVariant	NM_000152.5:c.1398_1400dup	CA891842405	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:932901	biolink:SequenceVariant	NM_000152.5:c.1553_1555dup	CA913186005	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401361056	biolink:SequenceVariant	NM_000152.5:c.399C>A	CA401361056	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:495665	biolink:SequenceVariant	NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)	CA401370663	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795235	biolink:SequenceVariant	NM_000152.5:c.722_723del	CA658795235	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370357	biolink:SequenceVariant	NM_000152.4(GAA):c.1687C>T (p.Gln563Ter)	CA16041895	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370124	biolink:SequenceVariant	NM_000152.5(GAA):c.169C>T (p.Gln57Ter)	CA16041879	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189144	biolink:SequenceVariant	NM_000152.5(GAA):c.1826dup (p.Tyr609Terfs)	CA274414	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401364293	biolink:SequenceVariant	NM_000152.5:c.955+1G>A	CA401364293	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:574052	biolink:SequenceVariant	NM_000152.4(GAA):c.2799+2C>T	CA401327501	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556975	biolink:SequenceVariant	NM_000152.4(GAA):c.2799+2C>A	CA401327498	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:102894	biolink:SequenceVariant	NM_000277.1(PAH):c.913-7A>G	CA229848	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020887	biolink:SequenceVariant	NM_000277.1:c.896T>C	CA16020887	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:13329	biolink:SequenceVariant	NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp)	CA234749	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:43568	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	CA261440	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:43495	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	CA261400	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:371781	biolink:SequenceVariant	NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	CA6904336	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:178283	biolink:SequenceVariant	NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu)	CA278732	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:92756	biolink:SequenceVariant	NM_000277.2(PAH):c.974A>G (p.Tyr325Cys)	CA220593	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:265979	biolink:SequenceVariant	NM_206933.3(USH2A):c.5516T>A (p.Val1839Glu)	CA10588918	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:549981	biolink:SequenceVariant	NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe)	CA1396372	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:177844	biolink:SequenceVariant	NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	CA280060	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:13975	biolink:SequenceVariant	NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	CA273414	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40370	biolink:SequenceVariant	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	CA280052	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:225136	biolink:SequenceVariant	NM_000277.2(PAH):c.1172G>C (p.Ser391Thr)	CA357240	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020831	biolink:SequenceVariant	NM_000277.1:c.656T>C	CA16020831	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020832	biolink:SequenceVariant	NM_000277.3:c.659A>C	CA16020832	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA6748883	biolink:SequenceVariant	NM_000277.1:c.674C>T	CA6748883	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:177876	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.806C>G (p.Pro269Arg)	CA180914	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:41443	biolink:SequenceVariant	NM_002834.4(PTPN11):c.215C>T (p.Ala72Val)	CA215451	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:13964	biolink:SequenceVariant	NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	CA250636	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:561347	biolink:SequenceVariant	NM_005633.3(SOS1):c.1666G>A (p.Val556Ile)	CA346365661	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:222774	biolink:SequenceVariant	NM_002880.3(RAF1):c.779C>T (p.Thr260Ile)	CA351736	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:477722	biolink:SequenceVariant	NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr)	CA1624230	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:359048	biolink:SequenceVariant	NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	CA4516829	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40654	biolink:SequenceVariant	NM_005633.3(SOS1):c.512T>G (p.Val171Gly)	CA136165	HGNC:11187	NCBITaxon:9606	Homo sapiens
CA16020836	biolink:SequenceVariant	NM_000277.1:c.676C>A	CA16020836	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020854	biolink:SequenceVariant	NM_000277.1:c.755G>C	CA16020854	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020922	biolink:SequenceVariant	NM_000277.1:c.1043T>C	CA16020922	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:228282	biolink:SequenceVariant	NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)	CA10576905	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:229012	biolink:SequenceVariant	NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)	CA6198071	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:43185	biolink:SequenceVariant	NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)	CA132253	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:569590	biolink:SequenceVariant	NM_030662.3(MAP2K2):c.842G>A (p.Arg281Gln)	CA403385475	HGNC:6842	NCBITaxon:9606	Homo sapiens
CLINVAR:181553	biolink:SequenceVariant	NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys)	CA297273	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:561935	biolink:SequenceVariant	NM_005633.3(SOS1):c.1645A>G (p.Thr549Ala)	CA346365698	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:228273	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp)	CA10576999	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:40388	biolink:SequenceVariant	NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	CA281995	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:280033	biolink:SequenceVariant	NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	CA10603019	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:280939	biolink:SequenceVariant	NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg)	CA10603294	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:575203	biolink:SequenceVariant	NM_002834.4(PTPN11):c.782T>A (p.Leu261His)	CA6798648	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:427613	biolink:SequenceVariant	NM_000314.7(PTEN):c.165-1G>C	CA377784976	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:427621	biolink:SequenceVariant	NM_000314.7(PTEN):c.634+2T>C	CA377484731	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:427619	biolink:SequenceVariant	NM_000314.7(PTEN):c.492+1G>T	CA377482840	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:449089	biolink:SequenceVariant	NM_000314.8(PTEN):c.287C>T (p.Pro96Leu)	CA377482110	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:141771	biolink:SequenceVariant	NM_000314.7(PTEN):c.685T>A (p.Ser229Thr)	CA000546	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:142088	biolink:SequenceVariant	NM_000314.7(PTEN):c.1105G>A (p.Val369Ile)	CA000295	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:135912	biolink:SequenceVariant	NM_000314.7(PTEN):c.802-3T>A	CA000593	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:301423	biolink:SequenceVariant	NM_000314.7(PTEN):c.802-2del	CA10632766	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428268	biolink:SequenceVariant	NM_000314.7(PTEN):c.830C>G (p.Thr277Arg)	CA377485523	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189414	biolink:SequenceVariant	NM_000314.7(PTEN):c.599T>C (p.Phe200Ser)	CA000532	HGNC:9588	NCBITaxon:9606	Homo sapiens
CA16020943	biolink:SequenceVariant	NM_000277.3:c.1118C>A	CA16020943	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102583	biolink:SequenceVariant	NM_000277.3(PAH):c.1264G>A (p.Glu422Lys)	CA229422	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:127663	biolink:SequenceVariant	NM_001126049.1(KLLN):c.-792C>T	CA287473	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:102922	biolink:SequenceVariant	NM_000277.1(PAH):c.981T>G (p.Phe327Leu)	CA229889	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102879	biolink:SequenceVariant	NM_000277.1(PAH):c.853C>T (p.His285Tyr)	CA229824	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:556894	biolink:SequenceVariant	NM_000277.2(PAH):c.441+1G>C	CA6748955	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102852	biolink:SequenceVariant	NM_000277.3(PAH):c.822_832del (p.Lys274fs)	CA229788	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102782	biolink:SequenceVariant	NM_000277.1(PAH):c.676C>T (p.Gln226Ter)	CA229689	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625290	biolink:SequenceVariant	NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	CA386493290	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625286	biolink:SequenceVariant	NM_000277.3(PAH):c.1200-2A>C	CA386493121	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625287	biolink:SequenceVariant	NM_000277.3(PAH):c.32T>A (p.Leu11Ter)	CA386303850	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:553851	biolink:SequenceVariant	NM_000277.2(PAH):c.301G>A (p.Asp101Asn)	CA16020762	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102618	biolink:SequenceVariant	NM_000277.2(PAH):c.183C>G (p.Asn61Lys)	CA229471	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625291	biolink:SequenceVariant	NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	CA386492936	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120257	biolink:SequenceVariant	NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)	CA267623	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120261	biolink:SequenceVariant	NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)	CA267630	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102921	biolink:SequenceVariant	NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)	CA229885	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:579	biolink:SequenceVariant	NM_000277.2(PAH):c.977G>A (p.Trp326Ter)	CA229887	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020912	biolink:SequenceVariant	NM_001354304.2:c.976del	CA16020912	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102491	biolink:SequenceVariant	NM_000277.1(PAH):c.1046C>A (p.Ser349Ter)	CA229300	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102763	biolink:SequenceVariant	NM_000277.1(PAH):c.618C>G (p.Tyr206Ter)	CA229662	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:614	biolink:SequenceVariant	NM_000277.3(PAH):c.842+2T>A	CA229813	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625288	biolink:SequenceVariant	NM_000277.3(PAH):c.590T>A (p.Leu197Ter)	CA386296754	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:635217	biolink:SequenceVariant	NM_000277.3(PAH):c.346_347del (p.Asp116fs)	CA915946683	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020992	biolink:SequenceVariant	NM_001354304.2:c.1312A>G	CA16020992	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:449488	biolink:SequenceVariant	NM_004004.6(GJB2):c.488T>C (p.Met163Thr)	CA387461043	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:224749	biolink:SequenceVariant	NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly)	CA353603	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:102758	biolink:SequenceVariant	NM_000277.1(PAH):c.612T>G (p.Tyr204Ter)	CA229654	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020953	biolink:SequenceVariant	NM_001354304.2:c.1161C>A	CA16020953	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020757	biolink:SequenceVariant	NM_001354304.2:c.253A>T	CA16020757	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102656	biolink:SequenceVariant	NM_000277.3(PAH):c.359G>A (p.Trp120Ter)	CA229522	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:665198	biolink:SequenceVariant	NM_000277.3(PAH):c.799C>T (p.Gln267Ter)	CA16020861	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102806	biolink:SequenceVariant	NM_000277.3(PAH):c.722del (p.Arg241fs)	CA229717	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102793	biolink:SequenceVariant	NM_000277.3(PAH):c.707-1G>A	CA229703	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020859	biolink:SequenceVariant	NM_000277.3:c.795C>A	CA16020859	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102509	biolink:SequenceVariant	NM_000277.3(PAH):c.1066-1G>A	CA229322	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020946	biolink:SequenceVariant	NM_000277.3:c.1129T>G	CA16020946	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:43325	biolink:SequenceVariant	NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)	CA278707	HGNC:7606	NCBITaxon:9606	Homo sapiens
CA16020803	biolink:SequenceVariant	NM_001354304.2:c.505C>A	CA16020803	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020971	biolink:SequenceVariant	NM_001354304.2:c.1215_1219del	CA16020971	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102576	biolink:SequenceVariant	NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)	CA229412	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102707	biolink:SequenceVariant	NM_000277.3(PAH):c.509+1G>A	CA229589	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102535	biolink:SequenceVariant	NM_000277.3(PAH):c.1132A>T (p.Thr378Ser)	CA229358	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:283894	biolink:SequenceVariant	NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	CA8815025	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556334	biolink:SequenceVariant	NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro)	CA1393328	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:556881	biolink:SequenceVariant	NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)	CA6197659	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:196099	biolink:SequenceVariant	NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)	CA242907	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:44633	biolink:SequenceVariant	NM_002880.3(RAF1):c.776C>A (p.Ser259Tyr)	CA134750	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:438796	biolink:SequenceVariant	NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)	CA384152083	HGNC:6407	NCBITaxon:9606	Homo sapiens
CLINVAR:167260	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.608A>G	CA234222	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:375946	biolink:SequenceVariant	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	CA16602425	HGNC:1097	NCBITaxon:9606	Homo sapiens
CA6748704	biolink:SequenceVariant	NM_001354304.2:c.1259G>T	CA6748704	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:630	biolink:SequenceVariant	NM_000277.2(PAH):c.140C>T (p.Ala47Val)	CA114370	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:609	biolink:SequenceVariant	NM_000277.2(PAH):c.662A>G (p.Glu221Gly)	CA229677	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:621	biolink:SequenceVariant	NM_000277.2(PAH):c.731C>T (p.Pro244Leu)	CA229721	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:224753	biolink:SequenceVariant	NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)	CA354063	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:166479	biolink:SequenceVariant	NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	CA179542	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:178685	biolink:SequenceVariant	NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	CA182785	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:932902	biolink:SequenceVariant	NM_000152.5:c.461_469del	CA658795229	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371235	biolink:SequenceVariant	NM_000152.4(GAA):c.1222A>G (p.Met408Val)	CA8815236	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA294887189	biolink:SequenceVariant	NM_000152.5:c.377G>A	CA294887189	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188841	biolink:SequenceVariant	NM_000152.4(GAA):c.1051delG (p.Val351Cysfs)	CA274024	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370651	biolink:SequenceVariant	NM_000152.4(GAA):c.2242dup (p.Glu748Glyfs)	CA8815662	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189065	biolink:SequenceVariant	NM_000152.5(GAA):c.655G>A (p.Gly219Arg)	CA274334	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550355	biolink:SequenceVariant	NM_000152.4(GAA):c.989G>A (p.Trp330Ter)	CA401364487	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:578595	biolink:SequenceVariant	NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)	CA8815829	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:560377	biolink:SequenceVariant	NM_000152.5(GAA):c.4G>T (p.Gly2Ter)	CA401359822	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:654482	biolink:SequenceVariant	NM_000152.5(GAA):c.276C>A (p.Cys92Ter)	CA401360590	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:637958	biolink:SequenceVariant	NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)	CA401363871	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188858	biolink:SequenceVariant	NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)	CA274049	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:663894	biolink:SequenceVariant	NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)	CA401369921	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:372968	biolink:SequenceVariant	NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)	CA16043014	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370268	biolink:SequenceVariant	NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)	CA16041903	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:649354	biolink:SequenceVariant	NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)	CA401325061	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:552368	biolink:SequenceVariant	NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)	CA401325116	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:92479	biolink:SequenceVariant	NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)	CA220400	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:286229	biolink:SequenceVariant	NM_000152.3(GAA):c.2501_2502delCA (p.Thr834Argfs)	CA10605404	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:280063	biolink:SequenceVariant	NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)	CA8815664	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370904	biolink:SequenceVariant	NM_000152.3(GAA):c.2238G>A (p.Trp746Ter)	CA8815666	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:429727	biolink:SequenceVariant	NM_000152.4(GAA):c.2269C>T (p.Gln757Ter)	CA294856548	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:4034	biolink:SequenceVariant	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	CA340130	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA8815306	biolink:SequenceVariant	NM_000152.5:c.1408_1410del	CA8815306	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556265	biolink:SequenceVariant	NM_000152.4(GAA):c.1819_1836dup (p.His612_Trp613insGlyArgTyrAlaGlyHis)	CA658824783	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA294896907	biolink:SequenceVariant	NM_000152.5:c.1962_1964del	CA294896907	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA913184909	biolink:SequenceVariant	NM_000152.5:c.2167_2179delinsTGCGACGTGG	CA913184909	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188728	biolink:SequenceVariant	NM_000152.3(GAA):c.1933G>A (p.Asp645Asn)	CA273892	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:426593	biolink:SequenceVariant	NM_000152.3(GAA):c.118C>T (p.Arg40Ter)	CA8814791	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188797	biolink:SequenceVariant	NM_000152.4(GAA):c.925G>A (p.Gly309Arg)	CA273972	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:284093	biolink:SequenceVariant	NM_000152.4(GAA):c.1064T>C (p.Leu355Pro)	CA8815136	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:379593	biolink:SequenceVariant	NM_000152.4(GAA):c.1478C>T (p.Pro493Leu)	CA16608675	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:279811	biolink:SequenceVariant	NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)	CA8815429	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188902	biolink:SequenceVariant	NM_000152.4(GAA):c.1942G>A (p.Gly648Ser)	CA274102	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188924	biolink:SequenceVariant	NM_000152.4(GAA):c.2646+2T>A	CA274134	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795262	biolink:SequenceVariant	NM_001079804.3:c.1654del	CA658795262	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA913187393	biolink:SequenceVariant	NM_001079804.3:c.2161del	CA913187393	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188903	biolink:SequenceVariant	NM_000152.5(GAA):c.172C>T (p.Gln58Ter)	CA274104	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:499380	biolink:SequenceVariant	NM_000152.4(GAA):c.545C>G (p.Thr182Arg)	CA8814893	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189184	biolink:SequenceVariant	NM_000152.4(GAA):c.1438-1G>C	CA274472	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189188	biolink:SequenceVariant	NM_000152.4(GAA):c.670C>T (p.Arg224Trp)	CA274477	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:102788	biolink:SequenceVariant	NM_000277.2(PAH):c.694C>T (p.Gln232Ter)	CA229696	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020973	biolink:SequenceVariant	NM_001354304.2:c.1228T>A	CA16020973	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102569	biolink:SequenceVariant	NM_000277.3(PAH):c.121C>T (p.Leu41Phe)	CA229401	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102759	biolink:SequenceVariant	NM_000277.1(PAH):c.613G>A (p.Glu205Lys)	CA229656	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102476	biolink:SequenceVariant	NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)	CA229280	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:561221	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter)	CA410148673	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561228	biolink:SequenceVariant	NM_001754.5(RUNX1):c.159del (p.Ser53fs)	CA658824424	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532681	biolink:SequenceVariant	NM_001754.4(RUNX1):c.165G>A (p.Ala55=)	CA512318955	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561230	biolink:SequenceVariant	NM_001754.5(RUNX1):c.240_241del (p.Glu80fs)	CA658824422	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561242	biolink:SequenceVariant	NM_001754.5(RUNX1):c.501del (p.Ser167fs)	CA658824418	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:642956	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508+2T>C	CA410202459	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464001	biolink:SequenceVariant	NM_001754.4(RUNX1):c.645G>A (p.Lys215=)	CA512318690	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532686	biolink:SequenceVariant	NM_001754.4(RUNX1):c.705C>T (p.Ala235=)	CA320603683	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561255	biolink:SequenceVariant	NM_001754.5(RUNX1):c.719del (p.Pro240fs)	CA658824400	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532682	biolink:SequenceVariant	NM_001754.5(RUNX1):c.744C>T (p.Asn248=)	CA512318594	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:581331	biolink:SequenceVariant	NM_001754.4(RUNX1):c.976G>T (p.Asp326Tyr)	CA410148817	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:572808	biolink:SequenceVariant	NM_001754.5(RUNX1):c.998C>G (p.Pro333Arg)	CA410148693	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:370276	biolink:SequenceVariant	NM_000152.4(GAA):c.573C>A (p.Tyr191Ter)	CA16041885	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188996	biolink:SequenceVariant	NM_000152.5(GAA):c.343C>T (p.Gln115Ter)	CA274228	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:553894	biolink:SequenceVariant	NM_000152.5(GAA):c.352C>T (p.Gln118Ter)	CA401360858	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:595469	biolink:SequenceVariant	NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)	CA401365023	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:593486	biolink:SequenceVariant	NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)	CA401369436	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:183727	biolink:SequenceVariant	NM_004360.3(CDH1):c.1009_1010delAG (p.Ser337Phefs)	CA186248	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:491537	biolink:SequenceVariant	NM_004360.4(CDH1):c.455_465delAGAAGAGAGAC (p.Gln152Leufs)	CA658683945	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:421431	biolink:SequenceVariant	NM_004360.5(CDH1):c.-45C>T	CA16620225	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406652	biolink:SequenceVariant	NM_004360.5(CDH1):c.1008+2T>C	CA16615376	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:449922	biolink:SequenceVariant	NM_004360.5(CDH1):c.1031_1032dup (p.Val345fs)	CA658658485	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532473	biolink:SequenceVariant	NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter)	CA396460000	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428623	biolink:SequenceVariant	NM_004360.5(CDH1):c.1131del (p.Thr378fs)	CA645369682	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:186267	biolink:SequenceVariant	NM_004360.5(CDH1):c.1137+2T>C	CA194301	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:545807	biolink:SequenceVariant	NM_004360.5(CDH1):c.1312del (p.Thr438fs)	CA658824987	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:265543	biolink:SequenceVariant	NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)	CA10588623	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:483271	biolink:SequenceVariant	NM_004360.5(CDH1):c.1390del (p.Val464fs)	CA658658488	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:485481	biolink:SequenceVariant	NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)	CA396463169	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428621	biolink:SequenceVariant	NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)	CA396463469	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:479518	biolink:SequenceVariant	NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)	CA396464802	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:265511	biolink:SequenceVariant	NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)	CA10588624	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:216589	biolink:SequenceVariant	NM_004360.5(CDH1):c.1613A>T (p.Asp538Val)	CA338255	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:142826	biolink:SequenceVariant	NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)	CA169506	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463735	biolink:SequenceVariant	NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)	CA396467508	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:12237	biolink:SequenceVariant	NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)	CA280993	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:136065	biolink:SequenceVariant	NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)	CA332835	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:479524	biolink:SequenceVariant	NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)	CA658658479	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:423041	biolink:SequenceVariant	NM_004360.5(CDH1):c.512T>G (p.Phe171Cys)	CA8129871	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406654	biolink:SequenceVariant	NM_004360.5(CDH1):c.522C>A (p.Asn174Lys)	CA8129872	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:481011	biolink:SequenceVariant	NM_004360.5(CDH1):c.529C>T (p.Gln177Ter)	CA396457818	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428631	biolink:SequenceVariant	NM_004360.5(CDH1):c.720del (p.Asn240fs)	CA645369679	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406633	biolink:SequenceVariant	NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)	CA16615233	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:418111	biolink:SequenceVariant	NM_004360.5(CDH1):c.7C>T (p.Pro3Ser)	CA16620227	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428632	biolink:SequenceVariant	NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)	CA396459763	HGNC:1748	NCBITaxon:9606	Homo sapiens
CA16020723	biolink:SequenceVariant	NM_000277.1:c.60+5G>C	CA16020723	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102514	biolink:SequenceVariant	NM_000277.2(PAH):c.1069T>G (p.Cys357Gly)	CA229329	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:21389	biolink:SequenceVariant	NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	CA342005	HGNC:4284	NCBITaxon:9606	Homo sapiens
CA16020867	biolink:SequenceVariant	NM_000277.1:c.833C>G	CA16020867	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020880	biolink:SequenceVariant	NM_000277.3:c.871G>T	CA16020880	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020919	biolink:SequenceVariant	NM_000277.3:c.1027T>A	CA16020919	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020945	biolink:SequenceVariant	NM_000277.1:c.1124A>G	CA16020945	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:553594	biolink:SequenceVariant	NM_000277.1:c.1171_1172del	CA16020956	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:164664	biolink:SequenceVariant	NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)	CA278720	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:561500	biolink:SequenceVariant	NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe)	CA386776360	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:40389	biolink:SequenceVariant	NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)	CA281998	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:44603	biolink:SequenceVariant	NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	CA261568	HGNC:9644	NCBITaxon:9606	Homo sapiens
CLINVAR:504514	biolink:SequenceVariant	NM_001354689.3(RAF1):c.775T>G (p.Ser259Ala)	CA351512423	HGNC:9829	NCBITaxon:9606	Homo sapiens
CA16020906	biolink:SequenceVariant	NM_001354304.2:c.968C>T	CA16020906	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020975	biolink:SequenceVariant	NM_001354304.2:c.1235T>G	CA16020975	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:626	biolink:SequenceVariant	NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)	CA229330	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:634	biolink:SequenceVariant	NM_000277.3(PAH):c.1129del (p.Tyr377fs)	CA229356	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:625289	biolink:SequenceVariant	NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)	CA386493305	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:626282	biolink:SequenceVariant	NM_000277.1:c.875C>T	CA16020882	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:523937	biolink:SequenceVariant	NM_004999.4(MYO6):c.2751dup (p.Gln918fs)	CA3897446	HGNC:7605	NCBITaxon:9606	Homo sapiens
CLINVAR:429215	biolink:SequenceVariant	NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp)	CA1393090	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:188878	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	CA274070	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:236537	biolink:SequenceVariant	NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys)	CA1393629	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:166488	biolink:SequenceVariant	NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	CA179550	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:120284	biolink:SequenceVariant	NM_000277.2(PAH):c.682G>A (p.Glu228Lys)	CA267669	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:43298	biolink:SequenceVariant	NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)	CA278691	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:44731	biolink:SequenceVariant	NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	CA134953	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:44829	biolink:SequenceVariant	NM_004333.6(BRAF):c.722C>A (p.Thr241Lys)	CA261663	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:40367	biolink:SequenceVariant	NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)	CA281968	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:280446	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu)	CA10603467	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:44832	biolink:SequenceVariant	NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	CA261666	HGNC:1097	NCBITaxon:9606	Homo sapiens
CLINVAR:375981	biolink:SequenceVariant	NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser)	CA16602456	HGNC:6840	NCBITaxon:9606	Homo sapiens
CLINVAR:120263	biolink:SequenceVariant	NM_000277.2(PAH):c.1196T>C (p.Val399Ala)	CA267634	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120262	biolink:SequenceVariant	NM_000277.1(PAH):c.1180G>T (p.Asp394Tyr)	CA267632	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:225375	biolink:SequenceVariant	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	CA6904233	HGNC:4284	NCBITaxon:9606	Homo sapiens
CA16020976	biolink:SequenceVariant	NM_001354304.2:c.1237C>G	CA16020976	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102572	biolink:SequenceVariant	NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)	CA229406	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020780	biolink:SequenceVariant	NM_001354304.2:c.364C>T	CA16020780	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020747	biolink:SequenceVariant	NM_001354304.2:c.209C>T	CA16020747	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92738	biolink:SequenceVariant	NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	CA273113	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102743	biolink:SequenceVariant	NM_000277.3(PAH):c.586_608del (p.Ser196fs)	CA229634	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102747	biolink:SequenceVariant	NM_000277.3(PAH):c.593_614del (p.Tyr198fs)	CA229639	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102499	biolink:SequenceVariant	NM_000277.3(PAH):c.1056del (p.Glu353fs)	CA229312	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020894	biolink:SequenceVariant	NM_001354304.2:c.912+1G>C	CA16020894	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020895	biolink:SequenceVariant	NM_001354304.2:c.912+1G>T	CA16020895	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020967	biolink:SequenceVariant	NM_001354304.2:c.1200G>T	CA16020967	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020808	biolink:SequenceVariant	NM_001354304.2:c.510-1G>A	CA16020808	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120276	biolink:SequenceVariant	NM_000277.3(PAH):c.442-2A>C	CA267655	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102655	biolink:SequenceVariant	NM_000277.3(PAH):c.353-6T>A	CA229521	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102506	biolink:SequenceVariant	NM_000277.3(PAH):c.1065+7C>A	CA229319	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020925	biolink:SequenceVariant	NM_001354304.2:c.1066-13T>G	CA16020925	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020903	biolink:SequenceVariant	NM_000277.1:c.949T>C	CA16020903	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020911	biolink:SequenceVariant	NM_000277.1:c.970A>G	CA16020911	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102731	biolink:SequenceVariant	NM_000277.2(PAH):c.545A>G (p.Glu182Gly)	CA229617	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102901	biolink:SequenceVariant	NM_000277.1(PAH):c.935G>A (p.Gly312Asp)	CA229857	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:391813	biolink:SequenceVariant	NM_001354689.3(RAF1):c.1931C>G (p.Ser644Cys)	CA16604447	HGNC:9829	NCBITaxon:9606	Homo sapiens
CLINVAR:40674	biolink:SequenceVariant	NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr)	CA297267	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:180851	biolink:SequenceVariant	NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)	CA296066	HGNC:5173	NCBITaxon:9606	Homo sapiens
CLINVAR:561622	biolink:SequenceVariant	NM_005633.3(SOS1):c.1276C>A (p.Gln426Lys)	CA346366546	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:179760	biolink:SequenceVariant	NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)	CA185080	HGNC:15454	NCBITaxon:9606	Homo sapiens
CLINVAR:45368	biolink:SequenceVariant	NM_005633.3(SOS1):c.3721A>G (p.Lys1241Glu)	CA136152	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:48409	biolink:SequenceVariant	NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	CA143304	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:449490	biolink:SequenceVariant	NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	CA6904317	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:178937	biolink:SequenceVariant	NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)	CA183350	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:102504	biolink:SequenceVariant	NM_000277.3(PAH):c.1065+3A>C	CA229318	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020988	biolink:SequenceVariant	NM_001354304.2:c.1271T>A	CA16020988	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:427615	biolink:SequenceVariant	NM_001304717.5(PTEN):c.730-2_731del	CA658656080	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:498538	biolink:SequenceVariant	NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter)	CA6327349	HGNC:11720	NCBITaxon:9606	Homo sapiens
CLINVAR:561238	biolink:SequenceVariant	NM_001754.5(RUNX1):c.424dup (p.Ala142fs)	CA658824419	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561254	biolink:SequenceVariant	NM_001754.4(RUNX1):c.690_691delinsAA (p.Leu231Met)	CA658824401	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:633606	biolink:SequenceVariant	NM_001276761.1:c.802+1G>A	CA397836247	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12365	biolink:SequenceVariant	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	CA000367	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:638853	biolink:SequenceVariant	NM_001276761.1:c.-21-1G>A	CA397848094	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:567576	biolink:SequenceVariant	NM_004360.5(CDH1):c.369_375CCGCCCC[3] (p.His128fs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:491536	biolink:SequenceVariant	NM_004360.5(CDH1):c.436_437TC[1] (p.Pro147fs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406631	biolink:SequenceVariant	NM_004360.4(CDH1):c.49-2A>G	CA16615353	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:439045	biolink:SequenceVariant	NM_004360.5(CDH1):c.833-2A>G	CA396459533	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:496817	biolink:SequenceVariant	NM_004360.4(CDH1):c.2440-2A>G	CA396471928	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:622	biolink:SequenceVariant	NM_000277.2(PAH):c.3G>A (p.Met1Ile)	CA229532	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102834	biolink:SequenceVariant	NM_000277.2(PAH):c.791A>T (p.His264Leu)	CA229761	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:370074	biolink:SequenceVariant	NM_000277.3(PAH):c.1315+1G>T	CA16020993	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:555797	biolink:SequenceVariant	NM_000277.3(PAH):c.1314_1315+4del	CA16020994	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020996	biolink:SequenceVariant	NM_001354304.2:c.1316-2A>C	CA16020996	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020997	biolink:SequenceVariant	NM_001354304.2:c.1318G>T	CA16020997	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020991	biolink:SequenceVariant	NM_001354304.2:c.1306del	CA16020991	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:578	biolink:SequenceVariant	NM_000277.2(PAH):c.932T>C (p.Leu311Pro)	CA251524	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102609	biolink:SequenceVariant	NM_000277.2(PAH):c.168G>A (p.Glu56=)	CA229457	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102846	biolink:SequenceVariant	NM_000277.2(PAH):c.809G>A (p.Arg270Lys)	CA229781	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:805828	biolink:SequenceVariant	NM_001354304.1:c.168+2T>C	CA16020733	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:188771	biolink:SequenceVariant	NM_000277.2(PAH):c.168_168+1delGGinsAA	CA273936	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020909	biolink:SequenceVariant	NM_001354304.2:c.970-2A>G	CA16020909	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:842394	biolink:SequenceVariant	NM_000277.3(PAH):c.913-2A>G	-	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:635216	biolink:SequenceVariant	NM_000277.3(PAH):c.1316-1G>A	CA386492907	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102642	biolink:SequenceVariant	NM_000277.1(PAH):c.266dupC (p.Ala90Cysfs)	CA229503	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120298	biolink:SequenceVariant	NM_000277.3(PAH):c.970-1G>A	CA267690	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020910	biolink:SequenceVariant	NM_001354304.2:c.970-1G>T	CA16020910	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:805827	biolink:SequenceVariant	NM_001354304.1:c.168+1G>T	CA16020732	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102671	biolink:SequenceVariant	NM_000277.2(PAH):c.441+1G>A	CA229545	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120272	biolink:SequenceVariant	NM_000277.2(PAH):c.284_285delTCinsCA (p.Ile95Thr)	CA267649	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:372656	biolink:SequenceVariant	NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp)	CA16042455	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40681	biolink:SequenceVariant	NM_005633.3(SOS1):c.1655G>T (p.Arg552Met)	CA16616762	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:12872	biolink:SequenceVariant	NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser)	CA256580	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40684	biolink:SequenceVariant	NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser)	CA261730	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40682	biolink:SequenceVariant	NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr)	CA261728	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:40683	biolink:SequenceVariant	NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys)	CA261726	HGNC:11187	NCBITaxon:9606	Homo sapiens
CLINVAR:189041	biolink:SequenceVariant	NM_000152.4(GAA):c.1128_1129delGGinsC (p.Trp376Cysfs)	CA274311	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:167113	biolink:SequenceVariant	NM_000152.4(GAA):c.1841C>A (p.Thr614Lys)	CA234050	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:127823	biolink:SequenceVariant	NM_000546.5(TP53):c.800G>A (p.Arg267Gln)	CA000424	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:230764	biolink:SequenceVariant	NM_000546.5(TP53):c.541C>A (p.Arg181Ser)	CA10580940	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:245851	biolink:SequenceVariant	NM_000546.6(TP53):c.523C>T (p.Arg175Cys)	CA002442	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:246429	biolink:SequenceVariant	NM_000546.5(TP53):c.393C>A (p.Asn131Lys)	CA002656	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:376624	biolink:SequenceVariant	NM_000546.5(TP53):c.396G>C (p.Lys132Asn)	CA16603044	HGNC:11998	NCBITaxon:9606	Homo sapiens
CA16020955	biolink:SequenceVariant	NM_001354304.2:c.1166C>G	CA16020955	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:4842	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	CA253316	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:102918	biolink:SequenceVariant	NM_000277.3(PAH):c.970-2A>C	CA229882	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102566	biolink:SequenceVariant	NM_000277.3(PAH):c.1204T>C (p.Phe402Leu)	CA229396	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:987756	biolink:SequenceVariant	NM_001354304.2:c.1204T>G	CA16020969	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:987755	biolink:SequenceVariant	NM_001354304.2:c.1205T>G	CA16020970	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102544	biolink:SequenceVariant	NM_000277.3(PAH):c.1175T>C (p.Phe392Ser)	CA229369	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:141228	biolink:SequenceVariant	NM_001126112.2(TP53):c.784G>A (p.Gly262Ser)	CA000416	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:141159	biolink:SequenceVariant	NM_000546.5(TP53):c.1003C>T (p.Arg335Cys)	CA000009	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:102560	biolink:SequenceVariant	NM_000277.3(PAH):c.1199+5G>T	CA229388	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102550	biolink:SequenceVariant	NM_000277.3(PAH):c.1194A>G (p.Lys398=)	CA229376	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:987910	biolink:SequenceVariant	NM_001354304.2:c.441+5G>A	CA16020788	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102714	biolink:SequenceVariant	NM_000277.3(PAH):c.510-6T>G	CA229596	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020875	biolink:SequenceVariant	NM_001354304.2:c.843-5T>C	CA16020875	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:574672	biolink:SequenceVariant	NM_004360.5(CDH1):c.1170del (p.Asn390fs)	CA891843862	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428622	biolink:SequenceVariant	NM_004360.5(CDH1):c.1235_1236TA[3] (p.Ile415fs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:265635	biolink:SequenceVariant	NM_004360.5(CDH1):c.1320+1G>C	CA10588622	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:439040	biolink:SequenceVariant	NM_004360.5(CDH1):c.1341del (p.Lys447fs)	CA645509535	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428633	biolink:SequenceVariant	NM_004360.5(CDH1):c.1408del (p.Thr470fs)	CA645369638	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:491497	biolink:SequenceVariant	NM_004360.5(CDH1):c.1443del (p.Asn481fs)	CA658683954	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:422539	biolink:SequenceVariant	NM_004360.5(CDH1):c.1587dup (p.Ala530fs)	CA16620251	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:449339	biolink:SequenceVariant	NM_004360.5(CDH1):c.1590dup (p.Asn531fs)	CA658658491	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:545756	biolink:SequenceVariant	NM_004360.5(CDH1):c.1733dup (p.Gly579fs)	CA645580182	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234610	biolink:SequenceVariant	NM_004360.5(CDH1):c.1779dup (p.Ile594fs)	CA10577548	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532477	biolink:SequenceVariant	NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs)	CA658798631	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:182376	biolink:SequenceVariant	NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)	CA298940	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:185252	biolink:SequenceVariant	NM_004360.5(CDH1):c.1999del (p.Leu667fs)	CA191461	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:140781	biolink:SequenceVariant	NM_004360.5(CDH1):c.2062_2063TG[1] (p.Cys688_Glu689delinsTer)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:420613	biolink:SequenceVariant	NM_004360.5(CDH1):c.2164+2dup	CA16620258	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532441	biolink:SequenceVariant	NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter)	CA396470014	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406676	biolink:SequenceVariant	NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg)	CA8130238	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428624	biolink:SequenceVariant	NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)	CA396470822	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:496818	biolink:SequenceVariant	NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)	CA396471960	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:421050	biolink:SequenceVariant	NM_004360.5(CDH1):c.49-3C>A	CA16620228	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:485476	biolink:SequenceVariant	NM_004360.5(CDH1):c.594_595insT (p.Thr199fs)	CA658658480	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234812	biolink:SequenceVariant	NM_004360.5(CDH1):c.61C>A (p.Leu21Ile)	CA10577531	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:230175	biolink:SequenceVariant	NM_004360.5(CDH1):c.61C>G (p.Leu21Val)	CA10580066	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:488647	biolink:SequenceVariant	NM_004360.5(CDH1):c.656del (p.Pro219fs)	CA658683948	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406615	biolink:SequenceVariant	NM_004360.5(CDH1):c.692_693TC[2] (p.His233fs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:481173	biolink:SequenceVariant	NM_004360.5(CDH1):c.2505_2506dup (p.Glu836fs)	CA658658500	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234904	biolink:SequenceVariant	NM_004360.5(CDH1):c.2547_2548insA (p.Ser850fs)	CA10577553	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:981224	biolink:SequenceVariant	NM_001317186.2:c.561del	CA1139532475	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:46076	biolink:SequenceVariant	NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)	CA137643	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:102669	biolink:SequenceVariant	NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	CA229541	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:554011	biolink:SequenceVariant	NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	CA6748917	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102724	biolink:SequenceVariant	NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	CA229606	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386299637	biolink:SequenceVariant	NM_001354304.2:c.462C>A	CA386299637	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386295265	biolink:SequenceVariant	NM_001354304.2:c.804C>A	CA386295265	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA1139532470	biolink:SequenceVariant	NM_001354304.2:c.463del	CA1139532470	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020841	biolink:SequenceVariant	NM_001354304.2:c.690_691insG	CA16020841	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020766	biolink:SequenceVariant	NM_001354304.2:c.324_328del	CA16020766	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102733	biolink:SequenceVariant	NM_000277.3(PAH):c.556del (p.Thr186fs)	CA229620	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020829	biolink:SequenceVariant	NM_001354304.2:c.607dup	CA16020829	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102556	biolink:SequenceVariant	NM_000277.3(PAH):c.1199+1G>A	CA229385	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020787	biolink:SequenceVariant	NM_001354304.2:c.441+2T>G	CA16020787	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:92730	biolink:SequenceVariant	NM_000277.3(PAH):c.1200-1G>A	CA220577	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386304277	biolink:SequenceVariant	NM_001354304.2:c.169-1G>A	CA386304277	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386295865	biolink:SequenceVariant	NM_001354304.2:c.707-1G>C	CA386295865	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA6748922	biolink:SequenceVariant	NM_001354304.2:c.442-14C>T	CA6748922	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA1139532533	biolink:SequenceVariant	NM_001354304.2:c.912+16T>A	CA1139532533	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020961	biolink:SequenceVariant	NM_001354304.2:c.1199+4A>G	CA16020961	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA1139532543	biolink:SequenceVariant	NM_001354304.2:c.706+5G>A	CA1139532543	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102541	biolink:SequenceVariant	NM_000277.3(PAH):c.1162G>C (p.Val388Leu)	CA229366	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:458082	biolink:SequenceVariant	NM_000277.3(PAH):c.865G>A (p.Gly289Arg)	CA386294434	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386304179	biolink:SequenceVariant	NM_001354304.2:c.223G>C	CA386304179	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA1139532534	biolink:SequenceVariant	NM_001354304.2:c.1200-3T>G	CA1139532534	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA481332664	biolink:SequenceVariant	NM_001354304.2:c.441T>C	CA481332664	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA481333203	biolink:SequenceVariant	NM_001354304.2:c.285C>T	CA481333203	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:571388	biolink:SequenceVariant	NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs)	CA891844470	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:552279	biolink:SequenceVariant	NM_000277.3(PAH):c.124_126del (p.Lys42del)	CA658821284	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA1139532590	biolink:SequenceVariant	NM_001354304.2:c.543_545del	CA1139532590	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:631	biolink:SequenceVariant	NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	CA114371	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:555138	biolink:SequenceVariant	NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)	CA6197402	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:102638	biolink:SequenceVariant	NM_000277.3(PAH):c.241_256del (p.Thr81fs)	CA229499	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102756	biolink:SequenceVariant	NM_000277.1(PAH):c.609C>T (p.Cys203=)	CA229649	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102800	biolink:SequenceVariant	NM_000277.1(PAH):c.716G>T (p.Gly239Val)	CA229711	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102796	biolink:SequenceVariant	NM_000277.2(PAH):c.712A>C (p.Thr238Pro)	CA229705	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020786	biolink:SequenceVariant	NM_001354304.2:c.441+2T>A	CA16020786	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:551658	biolink:SequenceVariant	NM_000277.3(PAH):c.510-2A>G	CA16020807	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:987913	biolink:SequenceVariant	NM_001354304.2:c.1246C>A	CA16020980	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102543	biolink:SequenceVariant	NM_000277.3(PAH):c.1166del (p.Ala389fs)	CA229368	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102542	biolink:SequenceVariant	NM_000277.3(PAH):c.1163_1164del (p.Val388fs)	CA229367	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102530	biolink:SequenceVariant	NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)	CA229353	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102621	biolink:SequenceVariant	NM_000277.3(PAH):c.190del (p.His64fs)	CA229477	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102489	biolink:SequenceVariant	NM_000277.3(PAH):c.1043_1053del (p.Leu348fs)	CA229297	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102734	biolink:SequenceVariant	NM_000277.3(PAH):c.558_559del (p.Trp187fs)	CA229621	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020815	biolink:SequenceVariant	NM_001354304.2:c.551del	CA16020815	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102741	biolink:SequenceVariant	NM_000277.3(PAH):c.578_579CT[1] (p.Leu194fs)	CA229632	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020821	biolink:SequenceVariant	NM_001354304.2:c.584dup	CA16020821	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102769	biolink:SequenceVariant	NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)	CA229669	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020838	biolink:SequenceVariant	NM_001354304.2:c.682G>T	CA16020838	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:4929	biolink:SequenceVariant	NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)	CA239352	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:43230	biolink:SequenceVariant	NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)	CA278663	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:984798	biolink:SequenceVariant	NM_000152.5:c.1A>T	CA401359799	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:984802	biolink:SequenceVariant	NM_000152.5:c.2T>C	CA401359804	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795253	biolink:SequenceVariant	NM_000152.5:c.1356del	CA658795253	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:557360	biolink:SequenceVariant	NM_000152.4(GAA):c.241C>T (p.Gln81Ter)	CA401360518	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:984800	biolink:SequenceVariant	NM_000152.5:c.2040G>A	CA502179100	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371302	biolink:SequenceVariant	NM_000152.5(GAA):c.236_246del (p.Pro79fs)	CA16041880	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401363371	biolink:SequenceVariant	NM_001079804.3:c.763C>T	CA401363371	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:972762	biolink:SequenceVariant	NM_000152.5:c.1327-2A>G	CA401366177	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:552839	biolink:SequenceVariant	NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)	CA401328025	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:423925	biolink:SequenceVariant	NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)	CA16620645	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370241	biolink:SequenceVariant	NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)	-	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:456415	biolink:SequenceVariant	NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)	CA401327117	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:555040	biolink:SequenceVariant	NM_000152.5(GAA):c.55del (p.Val19fs)	CA658824772	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370458	biolink:SequenceVariant	NM_000152.5(GAA):c.281_282del (p.Pro94fs)	CA16041881	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:526523	biolink:SequenceVariant	NM_000152.5(GAA):c.342del (p.Lys114fs)	CA658798976	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371580	biolink:SequenceVariant	NM_000152.5(GAA):c.393del (p.Ser132fs)	CA16041882	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:551530	biolink:SequenceVariant	NM_000152.5(GAA):c.448dup (p.Ala150fs)	CA658824776	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371501	biolink:SequenceVariant	NM_000152.5(GAA):c.471del (p.Thr158fs)	CA16041883	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:596146	biolink:SequenceVariant	NM_000152.5(GAA):c.482_483del (p.Pro161fs)	CA8814879	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189057	biolink:SequenceVariant	NM_000152.5(GAA):c.525_526del (p.Asn177fs)	CA274328	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:553981	biolink:SequenceVariant	NM_000152.5(GAA):c.755dup (p.Pro253fs)	CA658824779	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550104	biolink:SequenceVariant	NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)	CA658824780	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188880	biolink:SequenceVariant	NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)	CA274073	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556534	biolink:SequenceVariant	NM_000152.5(GAA):c.768dup (p.Ile257fs)	CA502402648	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:656144	biolink:SequenceVariant	NM_000152.5(GAA):c.806_830del (p.Leu269fs)	CA915952247	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:282254	biolink:SequenceVariant	NM_000152.5(GAA):c.934del (p.Leu312fs)	CA10604123	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:597147	biolink:SequenceVariant	NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)	CA913191005	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370810	biolink:SequenceVariant	NM_000152.5(GAA):c.1099del (p.Trp367fs)	CA16041888	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:497032	biolink:SequenceVariant	NM_000152.5(GAA):c.1130del (p.Gly377fs)	CA8815179	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370263	biolink:SequenceVariant	NM_000152.5(GAA):c.1143del (p.Ala382fs)	CA8815181	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:501294	biolink:SequenceVariant	NM_000152.5(GAA):c.1153del (p.Arg385fs)	CA658798978	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:4033	biolink:SequenceVariant	NM_000152.5(GAA):c.525del (p.Glu176fs)	CA220406	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370510	biolink:SequenceVariant	NM_000152.5(GAA):c.1192dup (p.Leu398fs)	CA16041890	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371457	biolink:SequenceVariant	NM_000152.5(GAA):c.1193del (p.Leu398fs)	CA16041891	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:552165	biolink:SequenceVariant	NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)	CA294892605	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:420101	biolink:SequenceVariant	NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)	CA16620646	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556959	biolink:SequenceVariant	NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)	CA8815357	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370223	biolink:SequenceVariant	NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)	CA16041901	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556853	biolink:SequenceVariant	NM_000152.5(GAA):c.716del (p.Leu239fs)	CA658795234	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188874	biolink:SequenceVariant	NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)	CA274067	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:694453	biolink:SequenceVariant	NM_000152.5(GAA):c.1431del (p.Ile477fs)	CA502178465	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371433	biolink:SequenceVariant	NM_000152.5(GAA):c.1567del (p.Ser523fs)	CA16041894	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:520974	biolink:SequenceVariant	NM_000152.5(GAA):c.1692del (p.Leu565fs)	CA658798979	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370866	biolink:SequenceVariant	NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)	CA16041896	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:693996	biolink:SequenceVariant	NM_000152.5(GAA):c.1847dup (p.Asp616fs)	CA628018362	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:632822	biolink:SequenceVariant	NM_000152.5(GAA):c.1952del (p.Gly651fs)	CA913191009	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:633225	biolink:SequenceVariant	NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)	CA913191010	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:423932	biolink:SequenceVariant	NM_000152.5(GAA):c.2061del (p.Phe687fs)	CA16620648	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:802700	biolink:SequenceVariant	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)	CA6197006	HGNC:7606	NCBITaxon:9606	Homo sapiens
CLINVAR:179260	biolink:SequenceVariant	NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu)	CA273607	HGNC:5173	NCBITaxon:9606	Homo sapiens
CA1139533052	biolink:SequenceVariant	NM_001318054.2:c.-145_-144delinsTT	CA1139533052	HGNC:5173	NCBITaxon:9606	Homo sapiens
CLINVAR:561252	biolink:SequenceVariant	NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)	CA410207940	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561236	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+1G>A	CA410203336	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561256	biolink:SequenceVariant	NM_001754.4(RUNX1):c.820del (p.Gln274fs)	CA658824399	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561248	biolink:SequenceVariant	NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter)	CA410208033	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:575051	biolink:SequenceVariant	NM_001754.5(RUNX1):c.105C>T (p.Ser35=)	CA512318999	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561223	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs)	CA658824658	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:376021	biolink:SequenceVariant	NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)	CA16602490	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464006	biolink:SequenceVariant	NM_001754.5(RUNX1):c.768C>T (p.Ser256=)	CA10014360	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561229	biolink:SequenceVariant	NM_001754.5(RUNX1):c.171_223del (p.Leu58fs)	CA658824423	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561226	biolink:SequenceVariant	NM_001754.5:c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561224	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs)	CA658824657	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:376022	biolink:SequenceVariant	NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly)	CA16602491	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:376019	biolink:SequenceVariant	NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser)	CA16602488	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:376020	biolink:SequenceVariant	NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser)	CA16602489	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561244	biolink:SequenceVariant	NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs)	CA658824417	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA16020802	biolink:SequenceVariant	NM_001354304.2:c.499A>T	CA16020802	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386296833	biolink:SequenceVariant	NM_001354304.2:c.563G>T	CA386296833	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16021000	biolink:SequenceVariant	NM_001354304.2:c.667_674dup	CA16021000	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1065372	biolink:SequenceVariant	NM_001354304.2:c.740del	CA16020849	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020989	biolink:SequenceVariant	NM_001354304.2:c.1282del	CA16020989	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020933	biolink:SequenceVariant	NM_001354304.2:c.1071C>A	CA16020933	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386299729	biolink:SequenceVariant	NM_001354304.2:c.442-1G>C	CA386299729	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386294521	biolink:SequenceVariant	NM_001354304.2:c.843-1G>A	CA386294521	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:225134	biolink:SequenceVariant	NM_000277.3(PAH):c.320A>G (p.His107Arg)	CA354151	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386296582	biolink:SequenceVariant	NM_001354304.2:c.679C>G	CA386296582	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1065380	biolink:SequenceVariant	NM_001354304.2:c.684A>C	CA386296575	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA378924686	biolink:SequenceVariant	NM_001318054.2:c.-145G>T	CA378924686	HGNC:5173	NCBITaxon:9606	Homo sapiens
CA399806384	biolink:SequenceVariant	NM_000419.5:c.266G>A	CA399806384	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA291224483	biolink:SequenceVariant	NM_000212.3:c.166-2A>G	CA291224483	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:323867	biolink:SequenceVariant	NM_000212.2(ITGB3):c.1309_1311del (p.Glu437del)	CA8623242	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:631775	biolink:SequenceVariant	NM_000212.2(ITGB3):c.362-1G>A	CA400021523	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953020	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs)	CA500260678	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953022	biolink:SequenceVariant	NM_000419.4:c.2728-19T>C	CA626119953	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:426669	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1072C>T (p.Arg358Cys)	CA290954009	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953003	biolink:SequenceVariant	NM_000419.4:c.202G>A	CA399806517	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:417956	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1043G>A (p.Arg348Gln)	CA16616933	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953059	biolink:SequenceVariant	NM_000212.2:c.1550del	CA626684864	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8623155	biolink:SequenceVariant	NM_000212.2:c.1125+29G>C	CA8623155	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:695458	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=)	CA8602935	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323870	biolink:SequenceVariant	NM_000212.2(ITGB3):c.1985G>A (p.Arg662His)	CA8623412	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8602626	biolink:SequenceVariant	NM_000419.4:c.2671C>T	CA8602626	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2901	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.641T>C (p.Leu214Pro)	CA115848	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:225393	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.2333A>C (p.Gln778Pro)	CA290947544	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953015	biolink:SequenceVariant	NM_000419.5:c.800G>A	CA399805147	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA913189226	biolink:SequenceVariant	NM_000419.5:c.1545-1del	CA913189226	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2892	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1750C>T (p.Arg584Ter)	CA115834	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953024	biolink:SequenceVariant	NM_000419.4:c.480C>G	CA399805892	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8623377	biolink:SequenceVariant	NM_000212.2:c.1913+5G>T	CA8623377	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953047	biolink:SequenceVariant	NM_000212.2:c.629G>C	CA400023389	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399805421	biolink:SequenceVariant	NM_000419.4:c.682C>T	CA399805421	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805793	biolink:SequenceVariant	NM_000419.4:c.526C>G	CA399805793	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA913184940	biolink:SequenceVariant	NM_000419.4:c.1440-13_1440-1del	CA913184940	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399802411	biolink:SequenceVariant	NM_000419.5:c.1618C>T	CA399802411	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:952999	biolink:SequenceVariant	NM_000419.4:c.574+5G>C	CA913203563	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA658820875	biolink:SequenceVariant	NM_000212.2:c.1030dup	CA658820875	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627066	biolink:SequenceVariant	NM_000212.2:c.433G>A	CA400021939	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400031666	biolink:SequenceVariant	NM_000212.2:c.115T>G	CA400031666	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:13554	biolink:SequenceVariant	NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr)	CA123226	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA290950376	biolink:SequenceVariant	NM_000419.5:c.1413C>G	CA290950376	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399801310	biolink:SequenceVariant	NM_000419.4:c.1882C>T	CA399801310	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805557	biolink:SequenceVariant	NM_000419.5:c.624+2C>A	CA399805557	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8602528	biolink:SequenceVariant	NM_000419.5:c.2929C>T	CA8602528	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953027	biolink:SequenceVariant	NM_000212.2:c.953T>C	CA400025639	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953051	biolink:SequenceVariant	NM_000212.2:c.2113del	CA8623443	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399804619	biolink:SequenceVariant	NM_000419.4:c.1028T>C	CA399804619	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8623358	biolink:SequenceVariant	NM_000212.2:c.1791del	CA8623358	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400028478	biolink:SequenceVariant	NM_000212.2:c.79+1G>A	CA400028478	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953040	biolink:SequenceVariant	NM_000419.4:c.886G>A	CA8603306	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:812736	biolink:SequenceVariant	NM_000212.2:c.565C>T	CA291224669	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953052	biolink:SequenceVariant	NM_000212.2:c.774_775del	CA915940285	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953053	biolink:SequenceVariant	NM_000212.2:c.448A>G	CA8622961	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953007	biolink:SequenceVariant	NM_000212.2:c.1595G>A	CA400029958	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:952996	biolink:SequenceVariant	NM_000419.4:c.3115_3119dup	CA915940262	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2900	biolink:SequenceVariant	NM_000419.3(ITGA2B):c.1787T>C	CA115846	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:569057	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1946+1G>A	CA8602901	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953008	biolink:SequenceVariant	NM_000212.2:c.1702T>C	CA400032350	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:381747	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.2944G>A (p.Val982Met)	CA16608466	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399802424	biolink:SequenceVariant	NM_000419.4:c.1612G>T	CA399802424	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA913189170	biolink:SequenceVariant	NM_000419.4:c.2153dup	CA913189170	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953004	biolink:SequenceVariant	NM_000419.4:c.1214T>C	CA290950815	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953001	biolink:SequenceVariant	NM_000419.4:c.1075_1078del	CA913184943	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953005	biolink:SequenceVariant	NM_000419.4:c.889G>C	CA8603305	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8603457	biolink:SequenceVariant	NM_000419.4:c.460_462del	CA8603457	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:631774	biolink:SequenceVariant	NM_000212.2:c.187C>T	CA8622892	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953061	biolink:SequenceVariant	NM_000212.2:c.505C>T	CA291224658	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622899	biolink:SequenceVariant	NM_000212.2:c.224del	CA8622899	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400033055	biolink:SequenceVariant	NM_000212.2:c.2014+1G>A	CA400033055	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953010	biolink:SequenceVariant	NM_000212.2:c.1594T>C	CA400029953	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953029	biolink:SequenceVariant	NM_000419.5:c.188+8del	CA8603523	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953018	biolink:SequenceVariant	NM_000419.5:c.527C>T	CA399805789	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996156	biolink:SequenceVariant	NM_000419.5:c.601G>A	CA399805612	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2895	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1544+1G>A	CA10575473	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996168	biolink:SequenceVariant	NM_000212.3:c.412G>A	CA400021826	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996169	biolink:SequenceVariant	NM_000419.5:c.962G>T	CA399804765	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996170	biolink:SequenceVariant	NM_000419.5:c.961G>T	CA399804768	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996171	biolink:SequenceVariant	NM_000419.5:c.571T>G	CA399805699	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996184	biolink:SequenceVariant	NM_000212.3:c.1260G>A	CA8623200	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:635	biolink:SequenceVariant	NM_000277.2(PAH):c.1220C>T (p.Pro407Leu)	CA229402	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:638	biolink:SequenceVariant	NM_000277.1(PAH):c.-4165_-407del3759	CA281520	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:928885	biolink:SequenceVariant	NM_000277.3(PAH):c.532G>A (p.Glu178Lys)	CA16020812	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:552657	biolink:SequenceVariant	NM_000277.3(PAH):c.443G>T (p.Gly148Val)	CA16020791	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:551103	biolink:SequenceVariant	NM_000277.3(PAH):c.505C>G (p.Arg169Gly)	CA16020804	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102602	biolink:SequenceVariant	NM_000277.3(PAH):c.161T>C (p.Leu54Ser)	CA229448	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:996175	biolink:SequenceVariant	NM_000212.3:c.760C>A	CA400023674	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627218	biolink:SequenceVariant	NM_000419.4:c.1186G>A	CA399804315	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996178	biolink:SequenceVariant	NM_000212.3:c.709_710del	CA8623029	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996159	biolink:SequenceVariant	NM_000212.3:c.941A>C	CA400025615	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996165	biolink:SequenceVariant	NM_000419.5:c.2800G>T	CA290946484	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA290949843	biolink:SequenceVariant	NM_000419.5:c.1672C>T	CA290949843	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2893	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.2602-3C>G	CA10575472	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996176	biolink:SequenceVariant	NM_000212.3:c.940G>T	CA400025612	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996180	biolink:SequenceVariant	NM_000419.5:c.1201G>T	CA399804280	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996172	biolink:SequenceVariant	NM_000419.5:c.68C>A	CA399807006	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996161	biolink:SequenceVariant	NM_000419.5:c.2602-3C>A	CA8602635	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996173	biolink:SequenceVariant	NM_000419.5:c.2748_2757del	CA290946532	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627131	biolink:SequenceVariant	NM_000212.2(ITGB3):c.761A>G (p.Gln254Arg)	CA400023678	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996207	biolink:SequenceVariant	NM_000419.5:c.435C>A	CA399805991	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:812735	biolink:SequenceVariant	NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp)	CA8622924	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:323868	biolink:SequenceVariant	NM_000212.2(ITGB3):c.1558G>A (p.Val520Ile)	CA8623288	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996177	biolink:SequenceVariant	NM_000212.3:c.1732G>A	CA8623343	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:50233	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)	CA10575573	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399798321	biolink:SequenceVariant	NM_000419.5:c.2236G>T	CA399798321	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400032726	biolink:SequenceVariant	NM_000212.3:c.1871G>A	CA400032726	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996187	biolink:SequenceVariant	NM_000419.5:c.2330C>A	CA399796685	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953045	biolink:SequenceVariant	NM_000419.4:c.2915dup	CA8602531	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996160	biolink:SequenceVariant	NM_000419.5:c.3076_3077delinsGC	CA915940802	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8602986	biolink:SequenceVariant	NM_000419.5:c.1652G>A	CA8602986	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953034	biolink:SequenceVariant	NM_000419.4:c.291del	CA915940464	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953021	biolink:SequenceVariant	NM_000419.4:c.2852_2853delinsC	CA913187304	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA290949031	biolink:SequenceVariant	NM_000419.5:c.1879-2A>G	CA290949031	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996190	biolink:SequenceVariant	NM_000212.3:c.940-2A>G	CA400025605	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA290955739	biolink:SequenceVariant	NM_000419.5:c.531T>A	CA290955739	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940289	biolink:SequenceVariant	NM_000419.5:c.2473_2481delinsTCACCTGGTC	CA915940289	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA290948990	biolink:SequenceVariant	NM_000419.5:c.1913dup	CA290948990	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400034866	biolink:SequenceVariant	NM_000212.3:c.2356C>T	CA400034866	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940315	biolink:SequenceVariant	NM_000419.5:c.693dup	CA915940315	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996212	biolink:SequenceVariant	NM_000419.5:c.1229C>G	CA399803786	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996202	biolink:SequenceVariant	NM_000212.3:c.647A>G	CA400023432	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:381748	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1234G>A (p.Gly412Arg)	CA8603182	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996174	biolink:SequenceVariant	NM_000212.3:c.1646G>C	CA400030198	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953057	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2965del (p.Ala989fs)	CA913189248	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627299	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp)	CA290942825	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940790	biolink:SequenceVariant	NM_000419.5:c.1618del	CA915940790	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953030	biolink:SequenceVariant	NM_000212.3:c.122_125dup	CA915940804	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400032825	biolink:SequenceVariant	NM_000212.3:c.1913+1G>A	CA400032825	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627103	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.624+5G>A	CA8603420	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996158	biolink:SequenceVariant	NM_000419.5:c.2613del	CA915940594	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953014	biolink:SequenceVariant	NM_000419.5:c.527C>A	CA8603447	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996201	biolink:SequenceVariant	NM_000419.5:c.1022C>T	CA399804629	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996203	biolink:SequenceVariant	NM_000419.5:c.2637del	CA915940297	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996208	biolink:SequenceVariant	NM_000212.3:c.356G>A	CA8622925	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622852	biolink:SequenceVariant	NM_000212.3:c.100C>T	CA8622852	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400020703	biolink:SequenceVariant	NM_000212.3:c.262C>T	CA400020703	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA626224450	biolink:SequenceVariant	NM_000419.5:c.3017dup	CA626224450	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400025022	biolink:SequenceVariant	NM_000212.3:c.877C>T	CA400025022	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA291224887	biolink:SequenceVariant	NM_000212.3:c.665T>C	CA291224887	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:626993	biolink:SequenceVariant	NM_000212.2:c.1366A>C	CA400028942	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:691627	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)	CA399803552	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996181	biolink:SequenceVariant	NM_000419.5:c.2468G>A	CA399795351	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:50232	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)	CA10575572	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953039	biolink:SequenceVariant	NM_000419.4:c.2975del	CA626224451	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:626927	biolink:SequenceVariant	NM_000419.4:c.2344C>T	CA399796586	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953058	biolink:SequenceVariant	NM_000419.4:c.2113T>C	CA8602816	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953035	biolink:SequenceVariant	NM_000419.4:c.91del	CA913203486	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996166	biolink:SequenceVariant	NM_000212.3:c.353T>A	CA291224511	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953036	biolink:SequenceVariant	NM_000419.4:c.1753-1G>A	CA399802017	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996189	biolink:SequenceVariant	NM_000419.5:c.2159T>C	CA399798955	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:996182	biolink:SequenceVariant	NM_000212.3:c.1801T>G	CA400032570	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996200	biolink:SequenceVariant	NM_000419.5:c.1021G>A	CA399804633	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400023596	biolink:SequenceVariant	NM_000212.3:c.724C>T	CA400023596	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:996205	biolink:SequenceVariant	NM_000212.3:c.1125+3_1125+6del	CA291225439	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953012	biolink:SequenceVariant	NM_000212.2:c.1458C>G	CA400029369	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA290954352	biolink:SequenceVariant	NM_000419.5:c.917dup	CA290954352	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953038	biolink:SequenceVariant	NM_000419.4:c.2267+1G>T	CA399798124	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805155	biolink:SequenceVariant	NM_000419.5:c.799+2T>C	CA399805155	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:73556	biolink:SequenceVariant	NM_206933.3(USH2A):c.9433C>T (p.Leu3145Phe)	CA1394316	HGNC:12601	NCBITaxon:9606	Homo sapiens
CLINVAR:203872	biolink:SequenceVariant	NM_000277.3(PAH):c.1065+1G>T	CA312806	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:883981	biolink:SequenceVariant	NM_000277.3(PAH):c.280A>G (p.Ile94Val)	CA6748988	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:620	biolink:SequenceVariant	NM_000277.2(PAH):c.1092_1106del (p.Leu365_Leu369del)	CA229339	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102914	biolink:SequenceVariant	NM_000277.3(PAH):c.969+1G>A	CA229878	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102517	biolink:SequenceVariant	NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)	CA229334	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102794	biolink:SequenceVariant	NM_000277.3(PAH):c.707-2A>G	CA229704	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA1139533026	biolink:SequenceVariant	NM_001354304.2:c.843-6T>C	CA1139533026	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102508	biolink:SequenceVariant	NM_000277.3(PAH):c.1066-14C>G	CA229321	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA645584081	biolink:SequenceVariant	NM_001354304.2:c.969+4A>T	CA645584081	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:558091	biolink:SequenceVariant	NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)	CA16020981	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020897	biolink:SequenceVariant	NM_001354304.2:c.919del	CA16020897	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020853	biolink:SequenceVariant	NM_001354304.2:c.753del	CA16020853	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102501	biolink:SequenceVariant	NM_000277.3(PAH):c.1065+1G>A	CA229315	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:590	biolink:SequenceVariant	NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)	CA229653	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:446524	biolink:SequenceVariant	NM_000277.2(PAH):c.506G>C (p.Arg169Pro)	CA386299458	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:120290	biolink:SequenceVariant	NM_000277.3(PAH):c.869A>T (p.His290Leu)	CA267680	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102883	biolink:SequenceVariant	NM_000277.3(PAH):c.869A>G (p.His290Arg)	CA229832	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:12969	biolink:SequenceVariant	NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	CA023827	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12993	biolink:SequenceVariant	NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	CA024286	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133101	biolink:SequenceVariant	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133108	biolink:SequenceVariant	NM_000540.2(RYR1):c.1841G>T (p.Arg614Leu)	CA024313	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133193	biolink:SequenceVariant	NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	CA024738	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133207	biolink:SequenceVariant	NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)	CA024821	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:161371	biolink:SequenceVariant	NM_000540.2(RYR1):c.4400A>G (p.Lys1467Arg)	CA024439	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214007	biolink:SequenceVariant	NM_001042723.2:c.5033A>G	CA066616	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133117	biolink:SequenceVariant	NM_000540.2(RYR1):c.2537C>T (p.Ser846Leu)	CA024353	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133094	biolink:SequenceVariant	NM_000540.2(RYR1):c.14825G>T (p.Gly4942Val)	CA024268	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133204	biolink:SequenceVariant	NM_000540.2(RYR1):c.7487C>T (p.Pro2496Leu)	CA024807	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:573252	biolink:SequenceVariant	NM_000540.2(RYR1):c.7076G>A (p.Arg2359Gln)	CA405667952	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:635269	biolink:SequenceVariant	NM_000540.3(RYR1):c.488G>A (p.Arg163His)	CA066494	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133242	biolink:SequenceVariant	NM_000540.2(RYR1):c.947G>T (p.Arg316Leu)	CA024986	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65927	biolink:SequenceVariant	NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr)	CA024266	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133030	biolink:SequenceVariant	NM_000540.2(RYR1):c.1202G>A (p.Arg401His)	CA023959	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:161374	biolink:SequenceVariant	NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser)	CA024586	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133099	biolink:SequenceVariant	NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)	CA024282	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133182	biolink:SequenceVariant	NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)	CA024690	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133102	biolink:SequenceVariant	NM_000540.2(RYR1):c.1597C>T (p.Arg533Cys)	CA024293	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133245	biolink:SequenceVariant	NM_000540.2(RYR1):c.982C>T (p.Arg328Trp)	CA025007	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12964	biolink:SequenceVariant	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	CA024311	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133147	biolink:SequenceVariant	NM_000540.2(RYR1):c.529C>T (p.Arg177Cys)	CA024503	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:329061	biolink:SequenceVariant	NM_000540.2(RYR1):c.7385C>T (p.Pro2462Leu)	CA069583	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133133	biolink:SequenceVariant	NM_000540.2(RYR1):c.467G>A (p.Arg156Lys)	CA024453	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133004	biolink:SequenceVariant	NM_000540.2(RYR1):c.1100G>T (p.Arg367Leu)	CA023880	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133132	biolink:SequenceVariant	NM_000540.2(RYR1):c.463C>A (p.Gln155Lys)	CA024451	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133171	biolink:SequenceVariant	NM_000540.2(RYR1):c.680A>T (p.Asp227Val)	CA024649	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65984	biolink:SequenceVariant	NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	CA024065	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133136	biolink:SequenceVariant	NM_000540.2(RYR1):c.479A>G (p.Glu160Gly)	CA024462	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65953	biolink:SequenceVariant	NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr)	CA024775	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214004	biolink:SequenceVariant	NM_001042723.2:c.1201C>A	CA405683844	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12973	biolink:SequenceVariant	NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	CA024590	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214001	biolink:SequenceVariant	NM_001042723.2:c.14798T>C	CA308126441	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133003	biolink:SequenceVariant	NM_000540.2(RYR1):c.1100G>A (p.Arg367Gln)	CA023877	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590508	biolink:SequenceVariant	NM_000540.2(RYR1):c.2924G>A (p.Arg975Gln)	CA064203	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133139	biolink:SequenceVariant	NM_000540.2(RYR1):c.493G>A (p.Gly165Arg)	CA024473	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214000	biolink:SequenceVariant	NM_001042723.2:c.1024G>A	CA405682843	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214008	biolink:SequenceVariant	NM_001042723.2:c.6548G>A	CA308102495	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590585	biolink:SequenceVariant	NM_000540.2(RYR1):c.7373G>T (p.Arg2458Leu)	CA405670033	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133045	biolink:SequenceVariant	NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	CA024034	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133122	biolink:SequenceVariant	NM_000540.2(RYR1):c.2996G>A (p.Arg999His)	CA024384	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133076	biolink:SequenceVariant	NM_000540.2(RYR1):c.1453A>G (p.Met485Val)	CA024169	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:132995	biolink:SequenceVariant	NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)	CA023838	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133141	biolink:SequenceVariant	NM_000540.2(RYR1):c.497A>G (p.Asp166Gly)	CA024477	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:448182	biolink:SequenceVariant	NM_000540.2(RYR1):c.455C>A (p.Ala152Asp)	CA405676716	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478267	biolink:SequenceVariant	NM_000540.2(RYR1):c.7089C>G (p.Cys2363Trp)	CA405668010	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133129	biolink:SequenceVariant	NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	CA024414	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133103	biolink:SequenceVariant	NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	CA024295	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:132992	biolink:SequenceVariant	NM_000540.2(RYR1):c.1021G>C (p.Gly341Arg)	CA023828	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214005	biolink:SequenceVariant	NM_001042723.2:c.178G>T	CA405673698	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133137	biolink:SequenceVariant	NM_000540.2(RYR1):c.488G>T (p.Arg163Leu)	CA024467	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65932	biolink:SequenceVariant	NM_000540.2(RYR1):c.178G>A (p.Asp60Asn)	CA024309	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478260	biolink:SequenceVariant	NM_000540.2(RYR1):c.6671G>A (p.Arg2224His)	CA308104313	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133170	biolink:SequenceVariant	NM_000540.2(RYR1):c.677T>A (p.Met226Lys)	CA024646	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65993	biolink:SequenceVariant	NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)	CA024333	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:159840	biolink:SequenceVariant	NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	CA024331	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133140	biolink:SequenceVariant	NM_000540.2(RYR1):c.496G>A (p.Asp166Asn)	CA024475	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:291315	biolink:SequenceVariant	NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)	CA10607101	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214003	biolink:SequenceVariant	NM_001042723.2:c.2050G>C	CA308125799	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133046	biolink:SequenceVariant	NM_000540.2(RYR1):c.131G>A (p.Arg44His)	CA024037	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1214002	biolink:SequenceVariant	NM_001042723.2:c.7084G>A	CA069115	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:803553	biolink:SequenceVariant	NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn)	CA405667924	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:212100	biolink:SequenceVariant	NM_001042723.2(RYR1):c.2654G>A (p.Arg885His)	CA063661	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:55831	biolink:SequenceVariant	NM_000540.2(RYR1):c.97A>G (p.Lys33Glu)	CA025005	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133096	biolink:SequenceVariant	NM_000540.2(RYR1):c.14879T>A (p.Phe4960Tyr)	CA024272	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:102859	biolink:SequenceVariant	NM_000277.3(PAH):c.828G>T (p.Met276Ile)	CA229799	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102727	biolink:SequenceVariant	NM_000277.3(PAH):c.529G>C (p.Val177Leu)	CA229610	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:664621	biolink:SequenceVariant	NM_000277.3(PAH):c.516G>T (p.Gln172His)	CA6748897	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102738	biolink:SequenceVariant	NM_000277.3(PAH):c.563G>A (p.Gly188Asp)	CA229628	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102878	biolink:SequenceVariant	NM_000277.3(PAH):c.850T>C (p.Cys284Arg)	CA229822	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102890	biolink:SequenceVariant	NM_000277.3(PAH):c.907T>G (p.Ser303Ala)	CA229842	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102464	biolink:SequenceVariant	NM_000277.3(PAH):c.1001G>C (p.Cys334Ser)	CA229263	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102917	biolink:SequenceVariant	NM_000277.3(PAH):c.969A>G (p.Thr323=)	CA229881	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:282842	biolink:SequenceVariant	NM_000152.5(GAA):c.258dup (p.Asn87fs)	CA8814826	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:93540	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1086G>A (p.Trp362Ter)	CA266818	HGNC:11634	NCBITaxon:9606	Homo sapiens
CA6748738	biolink:SequenceVariant	NM_001354304.2:c.1136T>C	CA6748738	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:2896	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1073G>A (p.Arg358His)	CA115839	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:952997	biolink:SequenceVariant	NM_000419.5:c.2864T>A	CA399791171	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:952995	biolink:SequenceVariant	NM_000419.5:c.555T>G	CA399805736	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:132709	biolink:SequenceVariant	NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)	CA298980	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234571	biolink:SequenceVariant	NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)	CA10577540	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532474	biolink:SequenceVariant	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CA396451182	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532457	biolink:SequenceVariant	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CA396451176	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:486826	biolink:SequenceVariant	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CA396451185	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463723	biolink:SequenceVariant	NM_004360.5(CDH1):c.1566-2A>G	CA396464772	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:481704	biolink:SequenceVariant	NM_004360.5(CDH1):c.1566-1G>C	CA283310260	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532459	biolink:SequenceVariant	NM_004360.5(CDH1):c.2165-1G>C	CA396469209	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:233417	biolink:SequenceVariant	NM_004360.5(CDH1):c.2296-2A>G	CA10580157	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:127915	biolink:SequenceVariant	NM_004360.5(CDH1):c.1565+1G>A	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:406622	biolink:SequenceVariant	NM_004360.5(CDH1):c.1565+1G>C	CA16614968	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:651982	biolink:SequenceVariant	NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CA396451339	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428629	biolink:SequenceVariant	NM_004360.5(CDH1):c.1746dup (p.Leu583fs)	CA645369677	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:371806	biolink:SequenceVariant	NM_004360.5(CDH1):c.2296-1G>A	CA16042157	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:479514	biolink:SequenceVariant	NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)	CA658658493	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:421639	biolink:SequenceVariant	NM_004360.5(CDH1):c.1565+1del	CA16620249	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:491520	biolink:SequenceVariant	NM_004360.5(CDH1):c.2144del (p.Gly715fs)	CA658683963	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:481028	biolink:SequenceVariant	NM_004360.5(CDH1):c.1636del (p.Ala546fs)	CA658658492	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:224529	biolink:SequenceVariant	NM_004360.5(CDH1):c.1505del (p.Gly502fs)	CA353528	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:573147	biolink:SequenceVariant	NM_004360.5(CDH1):c.1993del (p.Ile665fs)	CA645580198	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428634	biolink:SequenceVariant	NM_004360.5(CDH1):c.2490dup (p.Leu831fs)	CA645369680	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:463736	biolink:SequenceVariant	NM_004360.5(CDH1):c.1948_1949dup (p.Ile651fs)	CA658658494	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:918853	biolink:SequenceVariant	NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)	CA396451240	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:234636	biolink:SequenceVariant	NM_004360.5(CDH1):c.2076_2077del (p.Gly693fs)	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:483276	biolink:SequenceVariant	NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)	CA658658495	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:207545	biolink:SequenceVariant	NM_001083962.1(TCF4):c.2010_2011delGA (p.Gln670Hisfs)	CA319121	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:95378	biolink:SequenceVariant	NM_001042537.1(SLC9A6):c.1072C>T (p.Gln358Ter)	CA222934	HGNC:11079	NCBITaxon:9606	Homo sapiens
CLINVAR:167702	biolink:SequenceVariant	NM_001042537.1(SLC9A6):c.604-1G>A	CA180441	HGNC:11079	NCBITaxon:9606	Homo sapiens
CLINVAR:95202	biolink:SequenceVariant	NM_004992.3(MECP2):c.806delG (p.Gly269Alafs)	CA199475	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143406	biolink:SequenceVariant	NM_001110792.1(MECP2):c.1200_1243del44 (p.Pro401Terfs)	CA198846	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:158602	biolink:SequenceVariant	NM_005249.4(FOXG1):c.799G>A (p.Gly267Ser)	CA172199	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:383439	biolink:SequenceVariant	NM_001042537.1(SLC9A6):c.2T>G (p.Met1Arg)	CA16608696	HGNC:11079	NCBITaxon:9606	Homo sapiens
CLINVAR:189612	biolink:SequenceVariant	NM_005249.4(FOXG1):c.256delC (p.Gln86Argfs)	CA199433	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:156616	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del)	CA294623	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:205485	biolink:SequenceVariant	NM_005249.4(FOXG1):c.561C>A (p.Asn187Lys)	CA204685	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:158179	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.146-1G>A	CA171613	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:7967	biolink:SequenceVariant	NM_130838.1(UBE3A):c.2304G>A (p.Trp768Ter)	CA325622	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:546267	biolink:SequenceVariant	NM_130838.1(UBE3A):c.1147G>T (p.Glu383Ter)	CA391354119	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:214935	biolink:SequenceVariant	NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)	CA321113	HGNC:8806	NCBITaxon:9606	Homo sapiens
CLINVAR:10880	biolink:SequenceVariant	NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	CA121215	HGNC:8806	NCBITaxon:9606	Homo sapiens
CLINVAR:214941	biolink:SequenceVariant	NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	CA323959	HGNC:8806	NCBITaxon:9606	Homo sapiens
CLINVAR:655703	biolink:SequenceVariant	NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	CA412395150	HGNC:8806	NCBITaxon:9606	Homo sapiens
CLINVAR:391039	biolink:SequenceVariant	NM_002693.2(POLG):c.3405C>T (p.Asp1135=)	CA7724149	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:2317	biolink:SequenceVariant	NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)	CA115479	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:129997	biolink:SequenceVariant	NM_002693.2(POLG):c.3561G>C (p.Arg1187=)	CA288989	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:138764	biolink:SequenceVariant	NM_002693.2(POLG):c.3483-14T>C	CA292853	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:597808	biolink:SequenceVariant	NM_002693.2(POLG):c.3643+2T>C	CA393747166	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:21315	biolink:SequenceVariant	NM_002693.2(POLG):c.3630dup (p.Gly1211fs)	CA341888	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:285869	biolink:SequenceVariant	NM_002693.2(POLG):c.3609_3612dup (p.Gly1205fs)	CA10605281	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:378418	biolink:SequenceVariant	NM_002693.2(POLG):c.3451C>T (p.Leu1151=)	CA7724139	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:885824	biolink:SequenceVariant	NM_002693.3(POLG):c.*420A>G	CA1139664131	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:886829	biolink:SequenceVariant	NM_002693.3(POLG):c.*100G>A	CA274538167	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:426681	biolink:SequenceVariant	NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn)	CA10602282	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:619340	biolink:SequenceVariant	NM_002693.2(POLG):c.3572A>G (p.Lys1191Arg)	CA10602281	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:317304	biolink:SequenceVariant	NM_002693.2(POLG):c.*122G>A	CA10647460	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:129995	biolink:SequenceVariant	NM_002693.2(POLG):c.3293A>C (p.Asn1098Thr)	CA231406	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:206553	biolink:SequenceVariant	NM_002693.2(POLG):c.3239G>C (p.Ser1080Thr)	CA316750	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:504504	biolink:SequenceVariant	NM_014297.5(ETHE1):c.604dup (p.Val202fs)	CA658799240	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:620293	biolink:SequenceVariant	NM_130838.3(UBE3A):c.566C>G (p.Ser189Ter)	CA391355426	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:143822	biolink:SequenceVariant	NM_003159.2(CDKL5):c.513C>A (p.Tyr171Ter)	CA171644	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:437192	biolink:SequenceVariant	NM_130838.1(UBE3A):c.876G>A (p.Lys292=)	CA267785638	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:195397	biolink:SequenceVariant	NM_130838.1(UBE3A):c.3-14_3-7delAATGTTTG	CA241824	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:418572	biolink:SequenceVariant	NM_130838.3(UBE3A):c.1516C>T (p.Arg506Cys)	CA16619907	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:94113	biolink:SequenceVariant	NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln)	CA199289	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:102891	biolink:SequenceVariant	NM_000277.3(PAH):c.911A>G (p.Gln304Arg)	CA229844	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020891	biolink:SequenceVariant	NM_000277.3:c.910C>A	CA16020891	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102466	biolink:SequenceVariant	NM_000277.3(PAH):c.1007A>G (p.Gln336Arg)	CA229266	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102467	biolink:SequenceVariant	NM_000277.3(PAH):c.1010G>T (p.Gly337Val)	CA229268	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102469	biolink:SequenceVariant	NM_000277.3(PAH):c.1019T>C (p.Ile340Thr)	CA229270	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102471	biolink:SequenceVariant	NM_000277.3(PAH):c.1022A>C (p.Lys341Thr)	CA229274	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102472	biolink:SequenceVariant	NM_000277.3(PAH):c.1022A>G (p.Lys341Arg)	CA229275	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102512	biolink:SequenceVariant	NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	CA229325	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102527	biolink:SequenceVariant	NM_000277.3(PAH):c.1112A>G (p.Lys371Arg)	CA229348	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102665	biolink:SequenceVariant	NM_000277.3(PAH):c.411C>T (p.Ser137=)	CA229536	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:690393	biolink:SequenceVariant	NM_001348220.1:c.1411G>T	CA402531414	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:434661	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.65-4A>G	CA10360187	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:434662	biolink:SequenceVariant	NM_003159.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)	CA645373290	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:133342	biolink:SequenceVariant	NM_001110792.1(MECP2):c.1483G>T (p.Glu495Ter)	CA156430	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143578	biolink:SequenceVariant	NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)	CA270421	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:421239	biolink:SequenceVariant	NM_130838.1(UBE3A):c.2065-1G>A	CA16619904	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:420601	biolink:SequenceVariant	NM_130838.3(UBE3A):c.799G>A (p.Val267Ile)	CA16619910	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:524012	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1916_1917delGA (p.Arg639Lysfs)	CA658799063	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:207239	biolink:SequenceVariant	NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr)	CA318518	HGNC:11079	NCBITaxon:9606	Homo sapiens
CA913189044	biolink:SequenceVariant	NM_005249.4:c.153_161dup	CA913189044	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:859603	biolink:SequenceVariant	NM_004992.3:c.295A>C	CA415176953	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:429629	biolink:SequenceVariant	NM_001042537.1(SLC9A6):c.137G>A (p.Gly46Asp)	CA10524597	HGNC:11079	NCBITaxon:9606	Homo sapiens
CLINVAR:11824	biolink:SequenceVariant	NM_004992.3(MECP2):c.916C>T (p.Arg306Cys)	CA212529	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:11503	biolink:SequenceVariant	NM_003159.2(CDKL5):c.215T>C (p.Ile72Thr)	CA121523	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:503729	biolink:SequenceVariant	NM_004992.3(MECP2):c.-99+2T>G	CA415300768	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:11819	biolink:SequenceVariant	NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter)	CA121700	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:7371	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1739G>A (p.Arg580Gln)	CA254162	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:212379	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1965dupC (p.Gly656Argfs)	CA276982	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:451937	biolink:SequenceVariant	NM_005249.4(FOXG1):c.177_186dup (p.Pro63Alafs)	CA658658250	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:160220	biolink:SequenceVariant	NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs)	CA333552	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:393171	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1826T>C (p.Leu609Pro)	CA16608769	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:156620	biolink:SequenceVariant	NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe)	CA294630	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:432062	biolink:SequenceVariant	NM_001083962.1(TCF4):c.759C>G (p.Ser253Arg)	CA402701458	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:11844	biolink:SequenceVariant	NM_004992.3(MECP2):c.454C>G (p.Pro152Ala)	CA121717	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:160092	biolink:SequenceVariant	NM_001083962.2(TCF4):c.990G>A (p.Ser330=)	CA272714	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:155987	biolink:SequenceVariant	NM_130838.1(UBE3A):c.1745_1747delCTT (p.Ser582del)	CA333369	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:143826	biolink:SequenceVariant	NM_003159.2(CDKL5):c.578A>G (p.Asp193Gly)	CA171648	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:136199	biolink:SequenceVariant	NM_130838.1(UBE3A):c.2T>C (p.Met1Thr)	CA333472	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:143524	biolink:SequenceVariant	NM_004992.3(MECP2):c.301C>T (p.Pro101Ser)	CA270328	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:155994	biolink:SequenceVariant	NM_130838.1(UBE3A):c.317C>A (p.Thr106Lys)	CA333390	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:918032	biolink:SequenceVariant	NM_001323289.1:c.59G>T	CA412489610	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:189554	biolink:SequenceVariant	NM_003159.2(CDKL5):c.1247_1248delAG (p.Glu416Valfs)	CA235608	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:93542	biolink:SequenceVariant	NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	CA266820	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:95268	biolink:SequenceVariant	NM_005249.4(FOXG1):c.460dupG (p.Glu154Glyfs)	CA199435	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:423029	biolink:SequenceVariant	NM_003159.2(CDKL5):c.1211_1212dupAC (p.Leu405Thrfs)	CA16621277	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:381549	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1727G>A (p.Arg576Gln)	CA16607615	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:156068	biolink:SequenceVariant	NM_004992.3(MECP2):c.378-3C>G	CA233152	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:7370	biolink:SequenceVariant	NM_001083962.1(TCF4):c.1738C>T (p.Arg580Trp)	CA254160	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:11502	biolink:SequenceVariant	NM_003159.2(CDKL5):c.119C>T (p.Ala40Val)	CA121521	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:21318	biolink:SequenceVariant	NM_002693.2(POLG):c.578G>A (p.Arg193Gln)	CA241475	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:206556	biolink:SequenceVariant	NM_002693.3(POLG):c.3286C>T	CA316756	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:566733	biolink:SequenceVariant	NM_002693.2(POLG):c.3523C>T (p.Gln1175Ter)	CA393747895	HGNC:9179	NCBITaxon:9606	Homo sapiens
CLINVAR:133032	biolink:SequenceVariant	NM_000540.2(RYR1):c.12121C>T (p.Arg4041Trp)	CA023969	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133005	biolink:SequenceVariant	NM_000540.2(RYR1):c.11120G>T (p.Arg3707Leu)	CA023886	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133013	biolink:SequenceVariant	NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile)	CA023914	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1029908	biolink:SequenceVariant	NM_001042723.2:c.12227C>T	CA058500	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1120227	biolink:SequenceVariant	NM_001042723.2:c.12049A>G	CA058144	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:933345	biolink:SequenceVariant	NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp)	CA080431	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478157	biolink:SequenceVariant	NM_000540.2(RYR1):c.11126C>T (p.Ala3709Val)	CA405650411	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133036	biolink:SequenceVariant	NM_000540.2(RYR1):c.12355A>T (p.Asn4119Tyr)	CA023980	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1019540	biolink:SequenceVariant	NM_001042723.2:c.12013G>A	CA058118	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:132988	biolink:SequenceVariant	NM_000540.2(RYR1):c.10043G>A (p.Arg3348His)	CA023809	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133033	biolink:SequenceVariant	NM_000540.2(RYR1):c.12149C>A (p.Ser4050Tyr)	CA023971	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1120229	biolink:SequenceVariant	NM_001042723.2:c.11117C>T	CA055885	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133025	biolink:SequenceVariant	NM_000540.2(RYR1):c.11953T>C (p.Trp3985Arg)	CA023949	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1120230	biolink:SequenceVariant	NM_001042723.2:c.11401G>A	CA308085802	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133040	biolink:SequenceVariant	NM_000540.2(RYR1):c.12700G>C (p.Val4234Leu)	CA024001	HGNC:10483	NCBITaxon:9606	Homo sapiens
CA16020940	biolink:SequenceVariant	NM_000277.3:c.1103A>G	CA16020940	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:639999	biolink:SequenceVariant	NM_000277.1:c.1262T>G	CA16020986	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:161377	biolink:SequenceVariant	NM_000540.2(RYR1):c.13760C>T (p.Pro4587Leu)	CA024070	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:102582	biolink:SequenceVariant	NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)	CA229420	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102554	biolink:SequenceVariant	NM_000277.3(PAH):c.1198del (p.Arg400fs)	CA229383	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:133042	biolink:SequenceVariant	NM_000540.2(RYR1):c.12848A>T (p.Glu4283Val)	CA024011	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590447	biolink:SequenceVariant	NM_000540.2(RYR1):c.14186A>C (p.His4729Pro)	CA405684225	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478199	biolink:SequenceVariant	NM_001042723.2(RYR1):c.14407_14408inv (p.Phe4803Asn)	CA658658815	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65941	biolink:SequenceVariant	NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp)	CA024084	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133055	biolink:SequenceVariant	NM_001042723.2(RYR1):c.13979_13980delinsCT (p.Leu4660Pro)	CA024095	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:285857	biolink:SequenceVariant	NM_000540.2(RYR1):c.14270G>A (p.Arg4757His)	CA061023	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133053	biolink:SequenceVariant	NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)	CA024086	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133056	biolink:SequenceVariant	NM_000540.2(RYR1):c.14002C>T (p.Pro4668Ser)	CA024099	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:654427	biolink:SequenceVariant	NM_000540.2(RYR1):c.12398A>G (p.Glu4133Gly)	CA058826	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478187	biolink:SequenceVariant	NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp)	CA060375	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590453	biolink:SequenceVariant	NM_000540.2(RYR1):c.14458G>A (p.Gly4820Arg)	CA405687229	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133038	biolink:SequenceVariant	NM_000540.2(RYR1):c.12413T>C (p.Ile4138Thr)	CA023984	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133057	biolink:SequenceVariant	NM_000540.2(RYR1):c.14051T>C (p.Phe4684Ser)	CA024101	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133068	biolink:SequenceVariant	NM_000540.2(RYR1):c.14449A>T (p.Ile4817Phe)	CA024143	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590405	biolink:SequenceVariant	NM_000540.2(RYR1):c.12533G>T (p.Gly4178Val)	CA405669539	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590413	biolink:SequenceVariant	NM_000540.2(RYR1):c.12689T>G (p.Met4230Arg)	CA405670927	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1120228	biolink:SequenceVariant	NM_001042723.2:c.13975T>C	CA060685	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133060	biolink:SequenceVariant	NM_000540.2(RYR1):c.14209C>T (p.Arg4737Trp)	CA024116	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:102754	biolink:SequenceVariant	NM_000277.2(PAH):c.608G>A (p.Cys203Tyr)	CA229645	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:605	biolink:SequenceVariant	NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	CA251537	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102808	biolink:SequenceVariant	NM_000277.1(PAH):c.728G>T (p.Arg243Leu)	CA229719	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102780	biolink:SequenceVariant	NM_000277.1(PAH):c.673C>G (p.Pro225Ala)	CA229686	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102496	biolink:SequenceVariant	NM_000277.1(PAH):c.1054G>C (p.Gly352Arg)	CA229307	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102484	biolink:SequenceVariant	NM_000277.2(PAH):c.1033G>T (p.Ala345Ser)	CA286497	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102494	biolink:SequenceVariant	NM_000277.3(PAH):c.1048T>A (p.Ser350Thr)	CA229304	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102562	biolink:SequenceVariant	NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)	CA229391	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102580	biolink:SequenceVariant	NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)	CA229418	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102481	biolink:SequenceVariant	NM_000277.2(PAH):c.1031G>A (p.Gly344Asp)	CA229288	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102479	biolink:SequenceVariant	NM_000277.2(PAH):c.1030G>A (p.Gly344Ser)	CA229285	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102480	biolink:SequenceVariant	NM_000277.2(PAH):c.1030G>C (p.Gly344Arg)	CA229287	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102482	biolink:SequenceVariant	NM_000277.2(PAH):c.1031G>T (p.Gly344Val)	CA229290	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102755	biolink:SequenceVariant	NM_000277.1(PAH):c.609C>G (p.Cys203Trp)	CA229647	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:181207	biolink:SequenceVariant	NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)	CA013125	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181282	biolink:SequenceVariant	NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)	CA016126	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42999	biolink:SequenceVariant	NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)	CA014652	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181285	biolink:SequenceVariant	NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)	CA016196	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14094	biolink:SequenceVariant	NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)	CA010092	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14113	biolink:SequenceVariant	NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)	CA011471	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14118	biolink:SequenceVariant	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	CA015719	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14126	biolink:SequenceVariant	NM_000257.4(MYH7):c.728G>A (p.Arg243His)	CA016701	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:418517	biolink:SequenceVariant	NM_001126112.2(TP53):c.569C>T (p.Pro190Leu)	CA16620625	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:185814	biolink:SequenceVariant	NM_000546.5(TP53):c.814G>A (p.Val272Met)	CA000427	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:656751	biolink:SequenceVariant	NM_001126112.2(TP53):c.380C>A (p.Ser127Tyr)	CA397843908	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:186587	biolink:SequenceVariant	NM_000546.5(TP53):c.436T>G (p.Trp146Gly)	CA000190	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:142714	biolink:SequenceVariant	NM_001126112.2(TP53):c.711G>A (p.Met237Ile)	CA000349	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:218342	biolink:SequenceVariant	NM_001126112.2(TP53):c.636del (p.Arg213fs)	CA248848	HGNC:11998	NCBITaxon:9606	Homo sapiens
CA397849034	biolink:SequenceVariant	NM_001276761.2:c.-72C>A	CA397849034	HGNC:11998	NCBITaxon:9606	Homo sapiens
CA397832787	biolink:SequenceVariant	NM_001276761.2:c.892C>A	CA397832787	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:142158	biolink:SequenceVariant	NM_000546.6(TP53):c.85_87AAC[1] (p.Asn30del)	CA358484	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:142854	biolink:SequenceVariant	NM_000546.5(TP53):c.214C>G (p.Pro72Ala)	CA000070	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:182933	biolink:SequenceVariant	NM_001126112.2(TP53):c.607G>A (p.Val203Met)	CA000292	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:182938	biolink:SequenceVariant	NM_001126112.2(TP53):c.845G>T (p.Arg282Leu)	CA000456	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:182953	biolink:SequenceVariant	NM_001126112.2(TP53):c.214_215delinsTG (p.Pro72Cys)	CA000069	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:187457	biolink:SequenceVariant	NM_001126112.2(TP53):c.97-3C>T	CA000514	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:188342	biolink:SequenceVariant	NM_000546.6(TP53):c.1102C>T (p.His368Tyr)	CA000039	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:413774	biolink:SequenceVariant	NM_000527.4(LDLR):c.2389+8C>T	CA040318	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161273	biolink:SequenceVariant	NM_000527.5(LDLR):c.185C>T (p.Thr62Met)	CA023598	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:375775	biolink:SequenceVariant	NM_000527.4(LDLR):c.185C>G (p.Thr62Arg)	CA16602292	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252350	biolink:SequenceVariant	NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	CA10585878	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3734	biolink:SequenceVariant	NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)	CA023681	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36462	biolink:SequenceVariant	NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	CA023677	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252304	biolink:SequenceVariant	NM_000527.5(LDLR):c.2389+4A>G	CA040267	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3744	biolink:SequenceVariant	NM_000527.5(LDLR):c.2140+1G>A	CA023643	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183130	biolink:SequenceVariant	NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)	CA023635	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252219	biolink:SequenceVariant	NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	CA038525	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252188	biolink:SequenceVariant	NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp)	CA10585743	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3689	biolink:SequenceVariant	NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	CA023621	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252136	biolink:SequenceVariant	NM_000527.5(LDLR):c.1966C>A (p.His656Asn)	CA037604	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252135	biolink:SequenceVariant	NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu)	CA10585700	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252083	biolink:SequenceVariant	NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)	CA037227	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161264	biolink:SequenceVariant	NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	CA023592	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161290	biolink:SequenceVariant	NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	CA023581	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161271	biolink:SequenceVariant	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	CA023577	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183120	biolink:SequenceVariant	NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)	CA023533	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251783	biolink:SequenceVariant	NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)	CA10585400	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161276	biolink:SequenceVariant	NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	CA023439	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36453	biolink:SequenceVariant	NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	CA023437	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:228798	biolink:SequenceVariant	NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	CA033088	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3746	biolink:SequenceVariant	NM_000527.5(LDLR):c.1216C>A (p.Arg406=)	CA023436	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251706	biolink:SequenceVariant	NM_000527.5(LDLR):c.1186+5G>A	CA10585344	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36450	biolink:SequenceVariant	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	CA023408	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161282	biolink:SequenceVariant	NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)	CA023798	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251517	biolink:SequenceVariant	NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)	CA10585188	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161281	biolink:SequenceVariant	NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)	CA023787	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251603	biolink:SequenceVariant	NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)	CA10585255	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161268	biolink:SequenceVariant	NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	CA023783	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251106	biolink:SequenceVariant	NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr)	CA10584820	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161287	biolink:SequenceVariant	NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	CA023765	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161261	biolink:SequenceVariant	NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	CA023757	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251422	biolink:SequenceVariant	NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)	CA10585103	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251400	biolink:SequenceVariant	NM_000527.5(LDLR):c.693C>G (p.Cys231Trp)	CA10585085	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:225402	biolink:SequenceVariant	NM_000527.5(LDLR):c.344G>A (p.Arg115His)	CA043240	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251162	biolink:SequenceVariant	NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	CA043225	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3736	biolink:SequenceVariant	NM_000527.4(LDLR):c.313+1G>A	CA023688	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161269	biolink:SequenceVariant	NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)	CA023685	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251100	biolink:SequenceVariant	NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)	CA10584814	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3685	biolink:SequenceVariant	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	CA023683	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161289	biolink:SequenceVariant	NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	CA023658	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251034	biolink:SequenceVariant	NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)	CA041918	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250968	biolink:SequenceVariant	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	CA10584720	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:102610	biolink:SequenceVariant	NM_000277.2(PAH):c.168G>T (p.Glu56Asp)	CA229459	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102627	biolink:SequenceVariant	NM_000277.1(PAH):c.202A>G (p.Arg68Gly)	CA229484	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102766	biolink:SequenceVariant	NM_000277.1(PAH):c.631C>A (p.Pro211Thr)	CA229666	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102488	biolink:SequenceVariant	NM_000277.1(PAH):c.1039C>T (p.Leu347Phe)	CA229296	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102521	biolink:SequenceVariant	NM_000277.1(PAH):c.1097C>A (p.Pro366His)	CA229341	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020794	biolink:SequenceVariant	NM_000277.3:c.461A>G	CA16020794	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102600	biolink:SequenceVariant	NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	CA229445	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020963	biolink:SequenceVariant	NM_001354304.2:c.1199+50G>A	CA16020963	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:556817	biolink:SequenceVariant	NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	CA6748747	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:14121	biolink:SequenceVariant	NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)	CA016328	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:214322	biolink:SequenceVariant	NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	CA320215	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:496427	biolink:SequenceVariant	NM_014297.5(ETHE1):c.505+1G>A	CA308743496	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:504502	biolink:SequenceVariant	NM_014297.5(ETHE1):c.505+1G>T	CA406175434	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:1210168	biolink:SequenceVariant	NM_000212.3:c.683G>A	CA8623025	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA772541579	biolink:SequenceVariant	NM_000212.3:c.1522del	CA772541579	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA290954030	biolink:SequenceVariant	NM_000419.5:c.1051C>T	CA290954030	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627288	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg)	CA399794416	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:13568	biolink:SequenceVariant	NM_000212.2(ITGB3):c.836A>T (p.Lys279Met)	CA123254	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210185	biolink:SequenceVariant	NM_000419.5:c.2063C>T	CA399799766	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:695644	biolink:SequenceVariant	NM_000212.3(ITGB3):c.754A>G (p.Ile252Val)	CA8623033	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:13569	biolink:SequenceVariant	NM_000212.2(ITGB3):c.740G>A (p.Gly247Asp)	CA123256	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210201	biolink:SequenceVariant	NM_000212.3:c.191G>A	CA291224490	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627052	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)	CA915940799	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210202	biolink:SequenceVariant	NM_000419.5:c.1769G>A	CA8602943	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:977130	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2975_2979del (p.Glu992fs)	CA1139665644	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:13555	biolink:SequenceVariant	NM_000212.2(ITGB3):c.718C>T (p.Arg240Trp)	CA123228	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:13553	biolink:SequenceVariant	NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln)	CA123224	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210203	biolink:SequenceVariant	NM_000419.5:c.641T>G	CA399805518	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:977129	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)	CA399795789	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323865	biolink:SequenceVariant	NM_000212.2(ITGB3):c.985A>G (p.Asn329Asp)	CA8623107	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210206	biolink:SequenceVariant	NM_000212.3:c.662C>T	CA8623017	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:556718	biolink:SequenceVariant	NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)	CA658795274	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA915940722	biolink:SequenceVariant	NM_000419.5:c.2459del	CA915940722	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210169	biolink:SequenceVariant	NM_000212.3:c.437T>C	CA400021960	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400023704	biolink:SequenceVariant	NM_000212.3:c.774T>A	CA400023704	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210171	biolink:SequenceVariant	NM_000212.3:c.1261G>A	CA400028437	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210172	biolink:SequenceVariant	NM_000419.5:c.2029G>A	CA399800002	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210173	biolink:SequenceVariant	NM_000419.5:c.2898_2902dup	CA915940725	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210174	biolink:SequenceVariant	NM_000419.5:c.2570G>T	CA399794409	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210175	biolink:SequenceVariant	NM_000212.3(ITGB3):c.614+1G>T	CA400023344	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210176	biolink:SequenceVariant	NM_000419.5:c.647C>T	CA399805506	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210186	biolink:SequenceVariant	NM_000212.3:c.1094A>G	CA400026292	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940376	biolink:SequenceVariant	NM_000212.3:c.1456del	CA915940376	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940375	biolink:SequenceVariant	NM_000212.3:c.861del	CA915940375	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210188	biolink:SequenceVariant	NM_000419.5:c.1210+5G>A	CA915940251	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940723	biolink:SequenceVariant	NM_000419.5:c.245dup	CA915940723	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940724	biolink:SequenceVariant	NM_000419.5:c.2015del	CA915940724	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210191	biolink:SequenceVariant	NM_000419.5:c.800-2A>G	CA399805152	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210192	biolink:SequenceVariant	NM_000419.5:c.416C>T	CA399806036	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627239	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1440-1G>A	CA399802917	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2902	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.2870C>T (p.Ser957Leu)	CA115850	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:631773	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)	CA399803529	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:977127	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)	CA399803524	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:971253	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs)	CA1139665645	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627292	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2992del (p.Trp998fs)	CA915940800	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210204	biolink:SequenceVariant	NM_000212.3:c.2302-1G>A	CA400034626	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399803781	biolink:SequenceVariant	NM_000419.5:c.1233C>A	CA399803781	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:458368	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2094+2T>C	CA399799489	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627093	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.559del (p.Val187fs)	CA626224613	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:977128	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1752+2T>C	CA8602969	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2889	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.409-2_419del	CA10575471	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400033218	biolink:SequenceVariant	NM_000212.3:c.2080C>T	CA400033218	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210209	biolink:SequenceVariant	NM_000212.3:c.1539del	CA500651429	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA291224645	biolink:SequenceVariant	NM_000212.3:c.431T>G	CA291224645	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400023604	biolink:SequenceVariant	NM_000212.3:c.728A>T	CA400023604	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:800945	biolink:SequenceVariant	NM_000212.3(ITGB3):c.727G>C (p.Asp243His)	CA400023600	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940593	biolink:SequenceVariant	NM_000419.5:c.1232dup	CA915940593	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA290947484	biolink:SequenceVariant	NM_000419.5:c.2348+5G>C	CA290947484	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210180	biolink:SequenceVariant	NM_000212.3:c.1835G>A	CA400032647	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210181	biolink:SequenceVariant	NM_000212.3:c.1265G>A	CA291225740	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210182	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile)	CA399805055	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210193	biolink:SequenceVariant	NM_000419.4:c.2602-2A>G	CA399793915	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:952998	biolink:SequenceVariant	NM_000419.4:c.2951C>A	CA399790180	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953028	biolink:SequenceVariant	NM_000212.2:c.31T>C	CA291240306	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953032	biolink:SequenceVariant	NM_000419.5:c.131G>T	CA399806881	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2903	biolink:SequenceVariant	NM_000419.4(ITGA2B):c.1878G>C (p.Gln626His)	CA115852	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627296	biolink:SequenceVariant	NM_000419.4:c.3060+2T>C	CA290944108	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953037	biolink:SequenceVariant	NM_000419.4:c.257T>C	CA290956162	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:13564	biolink:SequenceVariant	NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter)	CA123246	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953016	biolink:SequenceVariant	NM_000419.5:c.2930del	CA915940386	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8623361	biolink:SequenceVariant	NM_000212.3:c.1801T>C	CA8623361	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:953046	biolink:SequenceVariant	NM_000419.5:c.1651C>T	CA399802348	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:977132	biolink:SequenceVariant	NM_000212.3:c.1697G>A	CA400032338	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210195	biolink:SequenceVariant	NM_000419.5:c.558C>G	CA399805728	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940296	biolink:SequenceVariant	NM_000419.5:c.1608del	CA915940296	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940787	biolink:SequenceVariant	NM_000419.5:c.1460_1461insAGGT	CA915940787	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210198	biolink:SequenceVariant	NM_000212.3:c.392G>C	CA8622954	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:850886	biolink:SequenceVariant	NM_000212.3:c.777+1G>A	CA8623036	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210199	biolink:SequenceVariant	NM_000212.3:c.1031A>G	CA400025816	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1210200	biolink:SequenceVariant	NM_000212.3:c.1031A>C	CA400025814	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:2898	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del)	CA8603160	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2894	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)	CA115837	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:854735	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)	CA399806043	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:13567	biolink:SequenceVariant	NM_000212.2(ITGB3):c.428T>G (p.Leu143Trp)	CA123252	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1030781	biolink:SequenceVariant	NM_000419.5:c.985G>T	CA399804719	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627273	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs)	CA915940304	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1210210	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp)	CA399805011	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323569	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.574+10A>G	CA8603436	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2899	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys)	CA115844	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:181368	biolink:SequenceVariant	NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr)	CA011976	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42826	biolink:SequenceVariant	NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg)	CA010281	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43100	biolink:SequenceVariant	NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	CA016679	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181195	biolink:SequenceVariant	NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	CA012685	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:217468	biolink:SequenceVariant	NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)	CA046762	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164289	biolink:SequenceVariant	NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)	CA014765	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:14093	biolink:SequenceVariant	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	CA013144	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:36638	biolink:SequenceVariant	NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr)	CA013599	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42818	biolink:SequenceVariant	NM_000257.4(MYH7):c.1013T>C (p.Val338Ala)	CA010070	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:36637	biolink:SequenceVariant	NM_000257.4(MYH7):c.2649_2651GAA[1] (p.Lys884del)	CA012790	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:133165	biolink:SequenceVariant	NM_000540.2(RYR1):c.6628G>T (p.Val2210Phe)	CA024625	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:374974	biolink:SequenceVariant	NM_000540.2(RYR1):c.3095G>A (p.Arg1032His)	CA064406	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590517	biolink:SequenceVariant	NM_000540.2(RYR1):c.3527C>T (p.Thr1176Ile)	CA064960	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133168	biolink:SequenceVariant	NM_000540.2(RYR1):c.6640G>A (p.Val2214Ile)	CA024634	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590482	biolink:SequenceVariant	NM_000540.2(RYR1):c.1553T>C (p.Val518Ala)	CA405689274	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1050940	biolink:SequenceVariant	NM_001042723.2:c.1475G>A	CA308122919	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:808527	biolink:SequenceVariant	NM_000540.3(RYR1):c.251C>T (p.Thr84Met)	CA063368	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133146	biolink:SequenceVariant	NM_000540.2(RYR1):c.51_53del (p.Asp17del)	CA024489	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:889434	biolink:SequenceVariant	NM_000540.3(RYR1):c.946C>T (p.Arg316Cys)	CA073614	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133166	biolink:SequenceVariant	NM_000540.2(RYR1):c.6635T>A (p.Val2212Asp)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478249	biolink:SequenceVariant	NM_000540.2(RYR1):c.625G>A (p.Glu209Lys)	CA067959	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210307	biolink:SequenceVariant	NM_001042723.2:c.1459C>G	CA405688428	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1065119	biolink:SequenceVariant	NM_001042723.2:c.6710G>A	CA405666261	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590575	biolink:SequenceVariant	NM_000540.2(RYR1):c.6757C>T (p.His2253Tyr)	CA308104435	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65968	biolink:SequenceVariant	NM_000540.2(RYR1):c.6847A>C (p.Asn2283His)	CA024656	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:567662	biolink:SequenceVariant	NM_000540.2(RYR1):c.1460T>C (p.Leu487Pro)	CA405688435	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590454	biolink:SequenceVariant	NM_000540.2(RYR1):c.14509C>G (p.Gln4837Glu)	CA405687465	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590556	biolink:SequenceVariant	NM_000540.2(RYR1):c.528G>T (p.Glu176Asp)	CA405677091	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133185	biolink:SequenceVariant	NM_000540.2(RYR1):c.7090T>G (p.Phe2364Val)	CA024702	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133179	biolink:SequenceVariant	NM_000540.2(RYR1):c.7036G>A (p.Val2346Met)	CA024676	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:167614	biolink:SequenceVariant	NM_000540.2(RYR1):c.641C>T (p.Thr214Met)	CA024581	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133081	biolink:SequenceVariant	NM_000540.2(RYR1):c.14627A>G (p.Lys4876Arg)	CA024200	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590580	biolink:SequenceVariant	NM_000540.2(RYR1):c.7060G>A (p.Val2354Met)	CA082317	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210316	biolink:SequenceVariant	NM_001042723.2:c.14788G>A	CA405691206	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210317	biolink:SequenceVariant	NM_001042723.2:c.1615T>G	CA405689929	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133172	biolink:SequenceVariant	NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133126	biolink:SequenceVariant	NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys)	CA024397	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133018	biolink:SequenceVariant	NM_000540.2(RYR1):c.11748T>G (p.Ile3916Met)	CA023930	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133124	biolink:SequenceVariant	NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys)	CA024388	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210308	biolink:SequenceVariant	NM_001042723.2:c.6304G>C	CA068028	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133135	biolink:SequenceVariant	NM_000540.2(RYR1):c.4775C>T (p.Pro1592Leu)	CA024460	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210309	biolink:SequenceVariant	NM_001042723.2:c.3656A>C	CA405639477	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133145	biolink:SequenceVariant	NM_000540.2(RYR1):c.5186T>G (p.Met1729Arg)	CA024497	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133150	biolink:SequenceVariant	NM_000540.2(RYR1):c.5441T>A (p.Met1814Lys)	CA024520	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210310	biolink:SequenceVariant	NM_001042723.2:c.3166G>A	CA405635960	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210318	biolink:SequenceVariant	NM_001042723.2:c.11708A>T	CA405661203	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210319	biolink:SequenceVariant	NM_001042723.2:c.6037A>C	CA405660749	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133158	biolink:SequenceVariant	NM_000540.2(RYR1):c.6388G>A (p.Gly2130Arg)	CA024578	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133161	biolink:SequenceVariant	NM_000540.2(RYR1):c.6544A>T (p.Ile2182Phe)	CA024609	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210320	biolink:SequenceVariant	NM_001042723.2:c.7035C>A	CA405667782	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133157	biolink:SequenceVariant	NM_000540.2(RYR1):c.6387C>G (p.Asp2129Glu)	CA024575	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133162	biolink:SequenceVariant	NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val)	CA024615	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133159	biolink:SequenceVariant	NM_000540.2(RYR1):c.6488G>C (p.Arg2163Pro)	CA024596	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133017	biolink:SequenceVariant	NM_000540.2(RYR1):c.11708G>A (p.Arg3903Gln)	CA023926	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210298	biolink:SequenceVariant	NM_001042723.2:c.1630G>T	CA308123345	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210299	biolink:SequenceVariant	NM_001042723.2:c.1834G>C	CA308125185	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133156	biolink:SequenceVariant	NM_000540.2(RYR1):c.6349G>C (p.Val2117Leu)	CA024566	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:978526	biolink:SequenceVariant	NM_001042723.2:c.3172G>A	CA405636001	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210300	biolink:SequenceVariant	NM_001042723.2:c.3166G>C	CA405635961	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:983140	biolink:SequenceVariant	NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)	CA405683851	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133104	biolink:SequenceVariant	NM_000540.2(RYR1):c.1615T>C (p.Phe539Leu)	CA024297	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213684	biolink:SequenceVariant	NM_001042723.2:c.14409C>A	CA405687052	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210301	biolink:SequenceVariant	NM_001042723.2:c.533A>C	CA405677113	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210303	biolink:SequenceVariant	NM_001042723.2:c.1144C>A	CA405683571	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1071064	biolink:SequenceVariant	NM_001042723.2:c.12685G>T	CA405670953	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210304	biolink:SequenceVariant	NM_001042723.2:c.10252A>G	CA405696830	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210302	biolink:SequenceVariant	NM_001042723.2:c.7292A>T	CA405669526	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210305	biolink:SequenceVariant	NM_001042723.2:c.10229C>A	CA405696626	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210306	biolink:SequenceVariant	NM_001042723.2:c.119G>C	CA405671894	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213682	biolink:SequenceVariant	NM_001042723.2:c.10876G>T	CA405649517	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213683	biolink:SequenceVariant	NM_001042723.2:c.10735G>C	CA405646836	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210311	biolink:SequenceVariant	NM_001042723.2:c.12368C>T	CA405668522	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210312	biolink:SequenceVariant	NM_001042723.2:c.10237A>T	CA405696652	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210313	biolink:SequenceVariant	NM_001042723.2:c.12100A>T	CA405665125	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210314	biolink:SequenceVariant	NM_001042723.2:c.7355G>C	CA405669968	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1210315	biolink:SequenceVariant	NM_001042723.2:c.11071G>C	CA405650194	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1004840	biolink:SequenceVariant	NM_001042723.2:c.3667G>A	CA308078035	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:329032	biolink:SequenceVariant	NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys)	CA081610	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:329033	biolink:SequenceVariant	NM_000540.2(RYR1):c.4763C>T (p.Pro1588Leu)	CA066427	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213825	biolink:SequenceVariant	NM_001042723.2:c.5024T>C	CA405653178	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:544383	biolink:SequenceVariant	NM_000540.2(RYR1):c.5132A>G (p.Tyr1711Cys)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1009683	biolink:SequenceVariant	NM_001042723.2:c.5341T>C	CA066926	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213827	biolink:SequenceVariant	NM_001042723.2:c.5890C>T	CA308097442	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:544517	biolink:SequenceVariant	NM_000540.2(RYR1):c.6302T>A (p.Met2101Lys)	CA068024	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213820	biolink:SequenceVariant	NM_001042723.2:c.6377G>A	CA405663755	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590571	biolink:SequenceVariant	NM_000540.2(RYR1):c.6488G>T (p.Arg2163Leu)	CA405664296	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133163	biolink:SequenceVariant	NM_000540.2(RYR1):c.6612C>G (p.His2204Gln)	CA024617	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:568713	biolink:SequenceVariant	NM_000540.2(RYR1):c.6742C>T (p.Arg2248Cys)	CA068623	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590574	biolink:SequenceVariant	NM_000540.2(RYR1):c.6743G>A (p.Arg2248His)	CA068627	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213821	biolink:SequenceVariant	NM_001042723.2:c.7018T>C	CA405667490	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133178	biolink:SequenceVariant	NM_000540.2(RYR1):c.7032G>C (p.Glu2344Asp)	CA024673	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133181	biolink:SequenceVariant	NM_000540.2(RYR1):c.7043A>G (p.Glu2348Gly)	CA024686	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133184	biolink:SequenceVariant	NM_000540.2(RYR1):c.7085A>G (p.Glu2362Gly)	CA024696	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:544455	biolink:SequenceVariant	NM_000540.2(RYR1):c.14558C>T (p.Thr4853Ile)	CA405687698	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133077	biolink:SequenceVariant	NM_000540.2(RYR1):c.14567C>G (p.Ala4856Gly)	CA024172	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133082	biolink:SequenceVariant	NM_000540.2(RYR1):c.14639T>C (p.Met4880Thr)	CA024202	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65988	biolink:SequenceVariant	NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln)	CA024221	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133087	biolink:SequenceVariant	NM_000540.2(RYR1):c.14680G>A (p.Ala4894Thr)	CA024225	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65955	biolink:SequenceVariant	NM_000540.2(RYR1):c.14814C>G (p.Ile4938Met)	CA024260	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213822	biolink:SequenceVariant	NM_001042723.2:c.15044G>C	CA405694193	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213823	biolink:SequenceVariant	NM_001042723.2:c.15045G>C	CA405694199	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133075	biolink:SequenceVariant	NM_000540.2(RYR1):c.14524G>A	CA024165	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213824	biolink:SequenceVariant	NM_001042723.2:c.14953A>G	CA405693438	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590472	biolink:SequenceVariant	NM_000540.2(RYR1):c.14782A>G (p.Ile4928Val)	CA405691060	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:102675	biolink:SequenceVariant	NM_000277.2(PAH):c.441+6T>C	CA229549	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102768	biolink:SequenceVariant	NM_000277.1(PAH):c.635T>C (p.Leu212Pro)	CA229668	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1327560	biolink:SequenceVariant	NM_001354304.2:c.977G>C	CA16020913	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16021003	biolink:SequenceVariant	NM_000277.3:c.925G>A	CA16021003	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020936	biolink:SequenceVariant	NM_000277.3:c.1081A>C	CA16020936	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020941	biolink:SequenceVariant	NM_000277.3:c.1105C>G	CA16020941	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102860	biolink:SequenceVariant	NM_000277.2(PAH):c.830A>G (p.Tyr277Cys)	CA229800	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:551270	biolink:SequenceVariant	NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)	CA16020950	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1327501	biolink:SequenceVariant	NM_000152.5(GAA):c.971dup (p.Ser325fs)	CA1585329339	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA891862619	biolink:SequenceVariant	NM_001079804.3:c.1057del	CA891862619	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795288	biolink:SequenceVariant	NM_001079804.3:c.2385del	CA658795288	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1693552	biolink:SequenceVariant	NM_001079804.3:c.2411G>A	CA401325125	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188806	biolink:SequenceVariant	NM_000152.5(GAA):c.784G>A (p.Glu262Lys)	CA273984	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:194154	biolink:SequenceVariant	NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)	CA274982	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:4029	biolink:SequenceVariant	NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	CA116610	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA251545	biolink:SequenceVariant	NM_001354304.2:c.914_1199+1del	CA251545	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:558612	biolink:SequenceVariant	NM_000277.3(PAH):c.870T>G (p.His290Gln)	CA16020878	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020968	biolink:SequenceVariant	NM_001354304.2:c.1204T>A	CA16020968	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020934	biolink:SequenceVariant	NM_000277.1:c.1076C>T	CA16020934	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:552488	biolink:SequenceVariant	NM_000277.1:c.1256A>G	CA6748705	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:660581	biolink:SequenceVariant	NM_000277.1:c.1123C>G	CA6748741	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102538	biolink:SequenceVariant	NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	CA274152	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102771	biolink:SequenceVariant	NM_000277.1(PAH):c.649T>G (p.Cys217Gly)	CA229673	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102773	biolink:SequenceVariant	NM_000277.1(PAH):c.653G>T (p.Gly218Val)	CA229676	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102775	biolink:SequenceVariant	NM_000277.1(PAH):c.665A>G (p.Asp222Gly)	CA229679	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:234613	biolink:SequenceVariant	NM_004360.5(CDH1):c.2164+2T>C	CA10577550	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:1292057	biolink:SequenceVariant	NM_001317186.2:c.-1818T>A	CA396451188	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:102861	biolink:SequenceVariant	NM_000277.2(PAH):c.832A>G (p.Thr278Ala)	CA229801	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:237950	biolink:SequenceVariant	NM_000546.5(TP53):c.461G>A (p.Gly154Asp)	CA002547	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:406604	biolink:SequenceVariant	NM_000546.5(TP53):c.37C>T (p.Pro13Ser)	CA16616008	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:419837	biolink:SequenceVariant	NM_000546.5(TP53):c.353C>T (p.Thr118Ile)	CA16620635	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:230382	biolink:SequenceVariant	NM_000546.5(TP53):c.946C>A (p.Pro316Thr)	CA001212	HGNC:11998	NCBITaxon:9606	Homo sapiens
CA16020837	biolink:SequenceVariant	NM_000277.1:c.680T>A	CA16020837	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:557425	biolink:SequenceVariant	NM_000277.1:c.689T>C	CA16020840	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020844	biolink:SequenceVariant	NM_000277.3:c.699C>G	CA16020844	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020848	biolink:SequenceVariant	NM_000277.1:c.730C>T	CA16020848	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020914	biolink:SequenceVariant	NM_000277.1:c.983C>A	CA16020914	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020927	biolink:SequenceVariant	NM_000277.1:c.1066-7C>A	CA16020927	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020942	biolink:SequenceVariant	NM_000277.3:c.1115C>G	CA16020942	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020952	biolink:SequenceVariant	NM_000277.1:c.1159T>G	CA16020952	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:862570	biolink:SequenceVariant	NM_000277.1:c.1200-2A>G	CA16020965	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:551592	biolink:SequenceVariant	NM_000152.5(GAA):c.258del (p.Asn87fs)	CA502402192	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189059	biolink:SequenceVariant	NM_000152.5(GAA):c.365del (p.Met122fs)	CA274330	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556716	biolink:SequenceVariant	NM_000152.5(GAA):c.376del (p.Trp126fs)	CA658824773	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:552747	biolink:SequenceVariant	NM_000152.5(GAA):c.379_380del (p.Cys127fs)	CA658795227	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:554096	biolink:SequenceVariant	NM_000152.5(GAA):c.437del (p.Met146fs)	CA658824775	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550277	biolink:SequenceVariant	NM_000152.5(GAA):c.2161dup (p.Glu721fs)	CA658795275	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370552	biolink:SequenceVariant	NM_000152.5(GAA):c.2185del (p.Leu729fs)	CA16041899	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370639	biolink:SequenceVariant	NM_000152.5(GAA):c.2242del (p.Glu748fs)	CA16041904	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370993	biolink:SequenceVariant	NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)	CA16041905	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:555341	biolink:SequenceVariant	NM_000152.5(GAA):c.2300del (p.Phe767fs)	CA658795282	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:558571	biolink:SequenceVariant	NM_000152.5(GAA):c.2367dup (p.Pro790fs)	CA658824788	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:92480	biolink:SequenceVariant	NM_000152.5(GAA):c.2544del (p.Lys849fs)	CA220403	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550478	biolink:SequenceVariant	NM_000152.5(GAA):c.2617dup (p.Tyr873fs)	CA658824790	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:597005	biolink:SequenceVariant	NM_000152.5(GAA):c.2655_2656del (p.Val886fs)	CA913191011	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:42835	biolink:SequenceVariant	NM_000257.4(MYH7):c.1318G>A (p.Val440Met)	CA010537	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42840	biolink:SequenceVariant	NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	CA010654	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42860	biolink:SequenceVariant	NM_000257.4(MYH7):c.1700G>A (p.Arg567His)	CA011148	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42876	biolink:SequenceVariant	NM_000257.4(MYH7):c.2069T>C (p.Met690Thr)	CA011635	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42948	biolink:SequenceVariant	NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	CA013375	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42960	biolink:SequenceVariant	NM_000257.4(MYH7):c.343T>C (p.Tyr115His)	CA013702	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43028	biolink:SequenceVariant	NM_000257.4(MYH7):c.457del (p.His153fs)	CA015125	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43064	biolink:SequenceVariant	NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)	CA015985	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:161323	biolink:SequenceVariant	NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)	CA015902	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164316	biolink:SequenceVariant	NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)	CA012904	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42926	biolink:SequenceVariant	NM_000257.4(MYH7):c.2711G>A (p.Arg904His)	CA012913	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164319	biolink:SequenceVariant	NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)	CA012807	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181203	biolink:SequenceVariant	NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)	CA012920	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164381	biolink:SequenceVariant	NM_000257.4(MYH7):c.1012G>A (p.Val338Met)	CA010061	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177667	biolink:SequenceVariant	NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	CA012723	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177734	biolink:SequenceVariant	NM_000257.4(MYH7):c.2129C>A (p.Pro710His)	CA011747	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177847	biolink:SequenceVariant	NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	CA012698	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:179272	biolink:SequenceVariant	NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)	CA010273	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:180439	biolink:SequenceVariant	NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)	CA015036	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:180441	biolink:SequenceVariant	NM_000257.4(MYH7):c.1888+1G>A	CA011391	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43097	biolink:SequenceVariant	NM_000257.4(MYH7):c.707T>C (p.Val236Ala)	CA016653	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:180434	biolink:SequenceVariant	NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu)	CA010341	HGNC:7577	NCBITaxon:9606	Homo sapiens
CA16020978	biolink:SequenceVariant	NM_000277.1:c.1243G>T	CA16020978	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:549912	biolink:SequenceVariant	NM_000277.1:c.668A>T	CA6748885	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:127811	biolink:SequenceVariant	NM_000546.5(TP53):c.467G>A (p.Arg156His)	CA000216	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:182926	biolink:SequenceVariant	NM_001126112.2(TP53):c.370T>A (p.Cys124Ser)	CA000138	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:973858	biolink:SequenceVariant	NM_001276761.2:c.365_370del	CA915940817	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:141566	biolink:SequenceVariant	NM_000546.5(TP53):c.511G>A (p.Glu171Lys)	CA000249	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:102681	biolink:SequenceVariant	NM_000277.3(PAH):c.443_509+1del	CA229552	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:9641	biolink:SequenceVariant	NC_012920.1:m.8993T>G	CA250380	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:1065382	biolink:SequenceVariant	NM_001354304.2:c.442-1377_509+226del	CA916084427	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:9642	biolink:SequenceVariant	NC_012920.1:m.8993T>C	CA120596	HGNC:7414	NCBITaxon:9606	Homo sapiens
CA916084430	biolink:SequenceVariant	NM_001354304.2:c.510-735_912+434del	CA916084430	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA916084429	biolink:SequenceVariant	NM_001354304.2:c.442-4403_509+883del	CA916084429	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:890601	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.800G>C (p.Gly267Ala)	CA399805146	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:265901	biolink:SequenceVariant	NM_000527.4(LDLR):c.1061-?_1845+?del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:650703	biolink:SequenceVariant	NC_000021.9:g.(?_35048832)_(35049298_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:977125	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs)	-	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:953025	biolink:SequenceVariant	NC_000017.11:g.44393555C>T	CA913189168	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2323	biolink:SequenceVariant	ETHE1, EX4DEL	-	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:39816	biolink:SequenceVariant	NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)	CA130584	HGNC:393	NCBITaxon:9606	Homo sapiens
CLINVAR:664963	biolink:SequenceVariant	NM_004958.3:c.5432G>T	CA338398676	HGNC:3942	NCBITaxon:9606	Homo sapiens
CA645535219	biolink:SequenceVariant	NM_006218.4:c.328_330del	CA645535219	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:39808	biolink:SequenceVariant	NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	CA130573	HGNC:8980	NCBITaxon:9606	Homo sapiens
CLINVAR:376130	biolink:SequenceVariant	NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)	CA16602588	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:858694	biolink:SequenceVariant	NM_004958.4(MTOR):c.6752G>A (p.Arg2251Gln)	CA338385973	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:376453	biolink:SequenceVariant	NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	CA16602888	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296990	biolink:SequenceVariant	NM_006218.4:c.1631C>A	CA355265058	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:833713	biolink:SequenceVariant	NM_004958.4(MTOR):c.5978A>G (p.Lys1993Arg)	CA589193	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:374796	biolink:SequenceVariant	NM_004958.3(MTOR):c.4447T>C (p.Cys1483Arg)	CA16602264	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296992	biolink:SequenceVariant	NM_006218.4:c.93A>G	CA355270988	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:31944	biolink:SequenceVariant	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	CA333572	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:39703	biolink:SequenceVariant	NM_006218.3(PIK3CA):c.2740G>A (p.Gly914Arg)	CA130467	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:1296991	biolink:SequenceVariant	NM_004958.3:c.997C>T	CA416041964	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:376476	biolink:SequenceVariant	NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	CA16602910	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:156702	biolink:SequenceVariant	NM_004958.3(MTOR):c.5930C>A (p.Thr1977Lys)	CA248390	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:376129	biolink:SequenceVariant	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	CA16602587	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296997	biolink:SequenceVariant	NM_004958.3:c.5005G>T	CA338402061	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296994	biolink:SequenceVariant	NM_001386501.1:c.3127G>T	CA338371979	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296989	biolink:SequenceVariant	NM_004958.3:c.5930C>G	CA338394655	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:659938	biolink:SequenceVariant	NM_004958.3:c.4382T>C	CA589652	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296993	biolink:SequenceVariant	NM_004958.3:c.4468T>C	CA338371453	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296995	biolink:SequenceVariant	NM_004958.3:c.3004C>T	CA338378687	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:156703	biolink:SequenceVariant	NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe)	CA248393	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:1296996	biolink:SequenceVariant	NM_004958.3:c.1249A>G	CA590769	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:417723	biolink:SequenceVariant	NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	CA338380762	HGNC:3942	NCBITaxon:9606	Homo sapiens
CLINVAR:13652	biolink:SequenceVariant	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	CA123326	HGNC:8975	NCBITaxon:9606	Homo sapiens
CLINVAR:693058	biolink:SequenceVariant	NC_012920.1:m.9026G>A	CA414801916	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:1172526	biolink:SequenceVariant	NC_012920.1:m.8936T>A	CA414799043	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:658833	biolink:SequenceVariant	NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)	CA406174565	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:329444	biolink:SequenceVariant	NM_014297.5(ETHE1):c.197A>G (p.Lys66Arg)	CA9487931	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:329442	biolink:SequenceVariant	NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)	CA9487892	HGNC:23287	NCBITaxon:9606	Homo sapiens
CLINVAR:214936	biolink:SequenceVariant	NM_000284.3(PDHA1):c.1132C>T (p.Arg378Cys)	CA323094	HGNC:8806	NCBITaxon:9606	Homo sapiens
CLINVAR:214938	biolink:SequenceVariant	NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	CA320653	HGNC:8806	NCBITaxon:9606	Homo sapiens
CLINVAR:972803	biolink:SequenceVariant	NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)	CA8815488	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1327503	biolink:SequenceVariant	NM_001079804.3:c.444C>G	CA401361416	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1327504	biolink:SequenceVariant	NM_001079804.3:c.827_845del	CA658795238	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371481	biolink:SequenceVariant	NM_000152.4(GAA):c.2815_2816delGT (p.Val939Leufs)	CA8815886	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:551558	biolink:SequenceVariant	NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)	CA8815479	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:9714	biolink:SequenceVariant	m.10158T>C	CA120639	HGNC:7458	NCBITaxon:9606	Homo sapiens
CLINVAR:555153	biolink:SequenceVariant	NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	CA401369044	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:558700	biolink:SequenceVariant	NM_000152.5(GAA):c.953T>A (p.Met318Lys)	CA401364275	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:956209	biolink:SequenceVariant	NM_000152.5(GAA):c.871C>T (p.Leu291Phe)	CA8815079	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:9702	biolink:SequenceVariant	m.13513G>A	CA120632	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:689930	biolink:SequenceVariant	NC_012920.1:m.5538G>A	CA913179793	HGNC:7501	NCBITaxon:9606	Homo sapiens
CLINVAR:265160	biolink:SequenceVariant	NM_000152.4(GAA):c.2238G>C (p.Trp746Cys)	CA8815665	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA386966233	biolink:SequenceVariant	NM_001306179.2:c.798C>G	CA386966233	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966092	biolink:SequenceVariant	NM_001306179.2:c.781G>A	CA386966092	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959939	biolink:SequenceVariant	NM_001306179.2:c.427C>T	CA386959939	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959897	biolink:SequenceVariant	NM_001306179.2:c.425C>A	CA386959897	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959900	biolink:SequenceVariant	NM_001306179.2:c.425C>T	CA386959900	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:586798	biolink:SequenceVariant	NM_000545.6(HNF1A):c.956-1G>A	CA386967822	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386967824	biolink:SequenceVariant	NM_001306179.2:c.956-1G>T	CA386967824	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:617646	biolink:SequenceVariant	NM_000545.6(HNF1A):c.956-1G>C	CA386967823	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959690	biolink:SequenceVariant	NM_001306179.2:c.412G>A	CA386959690	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959674	biolink:SequenceVariant	NM_001306179.2:c.410C>G	CA386959674	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386954869	biolink:SequenceVariant	NM_001306179.2:c.319C>A	CA386954869	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14930	biolink:SequenceVariant	NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys)	CA124457	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952489	biolink:SequenceVariant	NM_001306179.2:c.44C>T	CA386952489	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965866	biolink:SequenceVariant	NM_001306179.2:c.737T>C	CA386965866	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965858	biolink:SequenceVariant	NM_001306179.2:c.736G>T	CA386965858	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952583	biolink:SequenceVariant	NM_001306179.2:c.59G>C	CA386952583	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952580	biolink:SequenceVariant	NM_001306179.2:c.59G>A	CA386952580	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952573	biolink:SequenceVariant	NM_001306179.2:c.58G>C	CA386952573	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1033090	biolink:SequenceVariant	NM_001306179.2:c.58G>A	CA386952577	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA244520175	biolink:SequenceVariant	NM_001306179.2:c.-187C>T	CA244520175	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2480594443	biolink:SequenceVariant	NM_001306179.2:c.-187C>A	CA2480594443	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447488	biolink:SequenceVariant	NM_000545.6(HNF1A):c.392G>T (p.Arg131Leu)	CA386959454	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14943	biolink:SequenceVariant	NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp)	CA124478	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14933	biolink:SequenceVariant	NC_000012.12:g.120978486A>C	CA2286774128	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:562373	biolink:SequenceVariant	NM_000545.6(HNF1A):c.392G>A (p.Arg131Gln)	CA6831746	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327603	biolink:SequenceVariant	NM_001306179.2:c.-218T>C	CA244520160	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:994547	biolink:SequenceVariant	NM_000545.8(HNF1A):c.367C>G (p.Leu123Val)	CA386959145	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:484614	biolink:SequenceVariant	NM_000314.7(PTEN):c.319G>T (p.Asp107Tyr)	CA377482178	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:9689	biolink:SequenceVariant	m.14459G>A	CA120625	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9579	biolink:SequenceVariant	m.8344A>G	CA254836	HGNC:7489	NCBITaxon:9606	Homo sapiens
CLINVAR:590492	biolink:SequenceVariant	NM_000540.2(RYR1):c.190T>C (p.Cys64Arg)	CA308110136	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133093	biolink:SequenceVariant	NM_000540.2(RYR1):c.14817C>A (p.Asp4939Glu)	CA024264	HGNC:10483	NCBITaxon:9606	Homo sapiens
CA16020828	biolink:SequenceVariant	NM_001354304.2:c.605C>T	CA16020828	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1327604	biolink:SequenceVariant	NM_001306179.2:c.429C>G	CA386959959	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965780	biolink:SequenceVariant	NM_001306179.2:c.722G>A	CA386965780	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2023554331	biolink:SequenceVariant	NM_001306179.2:c.427del	CA2023554331	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965770	biolink:SequenceVariant	NM_001306179.2:c.721T>G	CA386965770	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965775	biolink:SequenceVariant	NM_001306179.2:c.721T>C	CA386965775	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965798	biolink:SequenceVariant	NM_001306179.2:c.725T>C	CA386965798	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:703089	biolink:SequenceVariant	NM_000277.3(PAH):c.1161C>T (p.Tyr387=)	CA6748733	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102539	biolink:SequenceVariant	NM_000277.1(PAH):c.1159T>C (p.Tyr387His)	CA229363	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020982	biolink:SequenceVariant	NM_000277.1:c.1249T>G	CA16020982	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020983	biolink:SequenceVariant	NM_000277.1:c.1250A>G	CA16020983	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020990	biolink:SequenceVariant	NM_000277.1:c.1301C>T	CA16020990	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:962987	biolink:SequenceVariant	NM_000277.1:c.1187A>G	CA6748729	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA6748773	biolink:SequenceVariant	NM_000277.1:c.970-7A>G	CA6748773	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102528	biolink:SequenceVariant	NM_000277.1(PAH):c.1114A>T (p.Thr372Ser)	CA229350	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102545	biolink:SequenceVariant	NM_000277.1(PAH):c.1180G>C (p.Asp394His)	CA229371	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102546	biolink:SequenceVariant	NM_000277.1(PAH):c.1181A>C (p.Asp394Ala)	CA229372	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:281052	biolink:SequenceVariant	NM_000152.4(GAA):c.853C>T (p.Pro285Ser)	CA10603793	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:283219	biolink:SequenceVariant	NM_000152.5(GAA):c.266G>A (p.Arg89His)	CA8814833	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:640911	biolink:SequenceVariant	NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)	CA8815481	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401363854	biolink:SequenceVariant	NM_001079804.3:c.872T>C	CA401363854	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370637	biolink:SequenceVariant	NM_000152.5(GAA):c.546G>T (p.Thr182=)	CA16041884	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:181210	biolink:SequenceVariant	NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro)	CA013309	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181236	biolink:SequenceVariant	NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)	CA014200	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181278	biolink:SequenceVariant	NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)	CA016046	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181286	biolink:SequenceVariant	NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)	CA016210	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181293	biolink:SequenceVariant	NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)	CA013294	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181299	biolink:SequenceVariant	NM_000257.4(MYH7):c.323G>A (p.Arg108His)	CA013482	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181300	biolink:SequenceVariant	NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)	CA013685	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181310	biolink:SequenceVariant	NM_000257.4(MYH7):c.511A>C (p.Asn171His)	CA015706	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181312	biolink:SequenceVariant	NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)	CA016180	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181315	biolink:SequenceVariant	NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)	CA016540	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181330	biolink:SequenceVariant	NM_000257.4(MYH7):c.964T>A (p.Ser322Thr)	CA017009	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:36831	biolink:SequenceVariant	NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)	CA214330	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327611	biolink:SequenceVariant	NM_001306179.2:c.802T>A	CA386966268	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327612	biolink:SequenceVariant	NM_001306179.2:c.802T>C	CA386966270	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327613	biolink:SequenceVariant	NM_001306179.2:c.1513C>A	CA6832097	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327614	biolink:SequenceVariant	NM_001306179.2:c.368T>G	CA386959154	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327615	biolink:SequenceVariant	NM_001306179.2:c.368T>C	CA386959158	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327617	biolink:SequenceVariant	NM_001306179.2:c.383T>A	CA386959363	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327618	biolink:SequenceVariant	NM_001306179.2:c.382A>G	CA386959359	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1327619	biolink:SequenceVariant	NM_001306179.2:c.385C>A	CA386959373	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:689846	biolink:SequenceVariant	NC_012920.1:m.1644G>A	CA913163370	HGNC:7500	NCBITaxon:9606	Homo sapiens
CLINVAR:693460	biolink:SequenceVariant	NC_012920.1:m.12544A>G	CA414813690	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:692343	biolink:SequenceVariant	NC_012920.1:m.3357G>C	CA414772609	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:1328511	biolink:SequenceVariant	NC_012920.1:m.7092T>C	CA414791198	HGNC:7419	NCBITaxon:9606	Homo sapiens
CLINVAR:1328512	biolink:SequenceVariant	NC_012920.1:m.4735C>G	CA414775553	HGNC:7456	NCBITaxon:9606	Homo sapiens
CLINVAR:693828	biolink:SequenceVariant	NC_012920.1:m.15117T>C	CA913172991	HGNC:7427	NCBITaxon:9606	Homo sapiens
CLINVAR:689941	biolink:SequenceVariant	NC_012920.1:m.5558A>G	CA414780655	HGNC:7501	NCBITaxon:9606	Homo sapiens
CLINVAR:102493	biolink:SequenceVariant	NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)	CA229303	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102487	biolink:SequenceVariant	NM_000277.3(PAH):c.1038del (p.Leu347fs)	CA229295	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:690123	biolink:SequenceVariant	NC_012920.1:m.10455A>G	CA913163341	HGNC:7496	NCBITaxon:9606	Homo sapiens
CLINVAR:102585	biolink:SequenceVariant	NM_000277.1(PAH):c.1289T>C (p.Leu430Pro)	CA229426	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102611	biolink:SequenceVariant	NM_000277.2(PAH):c.169-13T>G	CA229460	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102776	biolink:SequenceVariant	NM_000277.1(PAH):c.665A>T (p.Asp222Val)	CA229681	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102785	biolink:SequenceVariant	NM_000277.1(PAH):c.689T>G (p.Val230Gly)	CA229692	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020954	biolink:SequenceVariant	NM_001354304.2:c.1166C>A	CA16020954	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:370982	biolink:SequenceVariant	NM_000277.3(PAH):c.745del (p.Leu249fs)	CA16020850	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102748	biolink:SequenceVariant	NM_000277.3(PAH):c.598dup (p.Thr200fs)	CA229640	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102807	biolink:SequenceVariant	NM_000277.1(PAH):c.724C>T (p.Leu242Phe)	CA229718	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:133186	biolink:SequenceVariant	NM_000540.2(RYR1):c.7097C>G (p.Pro2366Arg)	CA024705	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133187	biolink:SequenceVariant	NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr)	CA024711	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330355	biolink:SequenceVariant	NM_001042723.2:c.7112A>G	CA405668159	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:582065	biolink:SequenceVariant	NM_000540.2(RYR1):c.7199A>G (p.Asp2400Gly)	CA308109644	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:161379	biolink:SequenceVariant	NM_000540.2(RYR1):c.7210G>A (p.Glu2404Lys)	CA024723	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133194	biolink:SequenceVariant	NM_000540.2(RYR1):c.7291G>A (p.Asp2431Asn)	CA024741	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133195	biolink:SequenceVariant	NM_000540.2(RYR1):c.7291G>T (p.Asp2431Tyr)	CA024744	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133196	biolink:SequenceVariant	NM_000540.2(RYR1):c.7304G>T (p.Arg2435Leu)	CA024753	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133197	biolink:SequenceVariant	NM_000540.2(RYR1):c.7310C>T (p.Ala2437Val)	CA024756	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133198	biolink:SequenceVariant	NM_000540.2(RYR1):c.7317G>C (p.Glu2439Asp)	CA024758	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133201	biolink:SequenceVariant	NM_000540.2(RYR1):c.7355G>A (p.Arg2452Gln)	CA024772	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133208	biolink:SequenceVariant	NM_000540.2(RYR1):c.7528T>C (p.Tyr2510His)	CA024827	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1056224	biolink:SequenceVariant	NM_001042723.2:c.7760A>G	CA070164	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133211	biolink:SequenceVariant	NM_000540.2(RYR1):c.7771C>T (p.Arg2591Trp)	CA024850	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:93291	biolink:SequenceVariant	NM_000540.2(RYR1):c.7771C>G (p.Arg2591Gly)	CA024847	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:654130	biolink:SequenceVariant	NM_000540.2(RYR1):c.7778G>A (p.Arg2593His)	CA070222	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330356	biolink:SequenceVariant	NM_001042723.2:c.7777C>G	CA405672067	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133212	biolink:SequenceVariant	NM_000540.2(RYR1):c.7787C>T (p.Thr2596Ile)	CA024853	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330358	biolink:SequenceVariant	NM_001042723.2:c.7879G>C	CA308113474	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:872586	biolink:SequenceVariant	NM_001042723.2:c.7879G>A	CA405673885	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330359	biolink:SequenceVariant	NM_001042723.2:c.8005G>A	CA405675895	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133217	biolink:SequenceVariant	NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp)	CA024883	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1308515	biolink:SequenceVariant	NM_001042723.2:c.8054C>T	CA071335	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133218	biolink:SequenceVariant	NM_000540.2(RYR1):c.8188G>C (p.Asp2730His)	CA024894	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133219	biolink:SequenceVariant	NM_000540.2(RYR1):c.8189A>G (p.Asp2730Gly)	CA024896	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133220	biolink:SequenceVariant	NM_000540.2(RYR1):c.8198G>A (p.Gly2733Asp)	CA024901	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133221	biolink:SequenceVariant	NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	CA024903	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133061	biolink:SequenceVariant	NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133160	biolink:SequenceVariant	NM_000540.2(RYR1):c.652G>A (p.Val218Ile)	CA024605	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133226	biolink:SequenceVariant	NM_000540.2(RYR1):c.8518C>T (p.Arg2840Trp)	CA024925	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330360	biolink:SequenceVariant	NM_001042723.2:c.8527T>C	CA072168	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133230	biolink:SequenceVariant	NM_000540.2(RYR1):c.8600T>A (p.Leu2867Gln)	CA024934	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133232	biolink:SequenceVariant	NM_000540.2(RYR1):c.8638G>A (p.Glu2880Lys)	CA024939	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330361	biolink:SequenceVariant	NM_001042723.2:c.8654C>G	CA405680045	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330362	biolink:SequenceVariant	NM_001042723.2:c.8729C>T	CA405680878	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330363	biolink:SequenceVariant	NM_001042723.2:c.8926C>T	CA405682354	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:544516	biolink:SequenceVariant	NM_000540.2(RYR1):c.9152G>A (p.Arg3051His)	CA073266	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330364	biolink:SequenceVariant	NM_001042723.2:c.9268G>A	CA405686237	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133241	biolink:SequenceVariant	NM_000540.3(RYR1):c.9356G>A (p.Arg3119His)	CA024980	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:329090	biolink:SequenceVariant	NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly)	CA073912	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330365	biolink:SequenceVariant	NM_001042723.2:c.9649T>C	CA308128959	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1010267	biolink:SequenceVariant	NM_001042723.2:c.9652G>A	CA073935	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330366	biolink:SequenceVariant	NM_001042723.2:c.9676G>C	CA405690940	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330367	biolink:SequenceVariant	NM_001042723.2:c.9797T>C	CA405692068	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1303276	biolink:SequenceVariant	NM_001042723.2:c.9848G>A	CA074227	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330368	biolink:SequenceVariant	NM_001042723.2:c.9850T>A	CA405692341	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330369	biolink:SequenceVariant	NM_001042723.2:c.9868G>A	CA308129882	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133070	biolink:SequenceVariant	NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro)	CA024148	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590630	biolink:SequenceVariant	NM_000540.2(RYR1):c.9499C>T (p.Arg3167Ter)	CA405688717	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:429750	biolink:SequenceVariant	NM_000545.6(HNF1A):c.475C>T (p.Arg159Trp)	CA244529794	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA400029525	biolink:SequenceVariant	NM_000212.3:c.1495T>C	CA400029525	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399790170	biolink:SequenceVariant	NM_000419.5:c.2953C>T	CA399790170	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940727	biolink:SequenceVariant	NM_000419.5:c.727del	CA915940727	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400029121	biolink:SequenceVariant	NM_000212.3:c.1402G>T	CA400029121	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400025209	biolink:SequenceVariant	NM_000212.3:c.921C>A	CA400025209	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940728	biolink:SequenceVariant	NM_000212.3:c.153del	CA915940728	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:695455	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1800G>A (p.Leu600=)	CA8623360	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA2499306877	biolink:SequenceVariant	NM_000419.5:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA	CA2499306877	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399802112	biolink:SequenceVariant	NM_000419.5:c.1742C>A	CA399802112	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330311	biolink:SequenceVariant	NM_000212.3:c.917A>C	CA291224999	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940726	biolink:SequenceVariant	NM_000419.5:c.2929_2930del	CA915940726	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:13565	biolink:SequenceVariant	NM_000212.2(ITGB3):c.1924G>T (p.Glu642Ter)	CA123249	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA626684825	biolink:SequenceVariant	NM_000212.3:c.225_226del	CA626684825	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400028591	biolink:SequenceVariant	NM_000212.3:c.1288C>T	CA400028591	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940291	biolink:SequenceVariant	NM_000212.3:c.1129dup	CA915940291	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA913012619	biolink:SequenceVariant	NM_000212.3:c.2068_2069del	CA913012619	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399805570	biolink:SequenceVariant	NM_000419.5:c.620C>T	CA399805570	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399802403	biolink:SequenceVariant	NM_000419.5:c.1622T>A	CA399802403	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA923726222	biolink:SequenceVariant	NM_000419.5:c.2444_2445del	CA923726222	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA923726221	biolink:SequenceVariant	NM_000212.3:c.756del	CA923726221	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940256	biolink:SequenceVariant	NM_000212.3:c.1300del	CA915940256	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940255	biolink:SequenceVariant	NM_000212.3:c.1784_1802delinsGTCACA	CA915940255	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400032429	biolink:SequenceVariant	NM_000212.3:c.1736G>A	CA400032429	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:13556	biolink:SequenceVariant	NM_000212.2(ITGB3):c.2332T>C (p.Ser778Pro)	CA123230	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1330325	biolink:SequenceVariant	NM_000419.5:c.1520C>G	CA399802643	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330326	biolink:SequenceVariant	NM_000212.3:c.166-14C>A	CA8622881	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1330327	biolink:SequenceVariant	NM_000212.3:c.652C>T	CA400023445	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399801004	biolink:SequenceVariant	NM_000419.5:c.1993C>T	CA399801004	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940253	biolink:SequenceVariant	NM_000212.3:c.1728del	CA915940253	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400025098	biolink:SequenceVariant	NM_000212.3:c.892C>T	CA400025098	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1330333	biolink:SequenceVariant	NM_000212.3:c.2147G>T	CA400033923	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400032983	biolink:SequenceVariant	NM_000212.3:c.1980C>A	CA400032983	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1330335	biolink:SequenceVariant	NM_000212.3:c.842A>C	CA400024802	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:13562	biolink:SequenceVariant	NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr)	CA123244	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940237	biolink:SequenceVariant	NM_000212.3:c.1525del	CA915940237	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1330339	biolink:SequenceVariant	NM_000212.3:c.856G>A	CA400024922	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400021329	biolink:SequenceVariant	NM_000212.3:c.361+1G>A	CA400021329	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940309	biolink:SequenceVariant	NM_000212.3:c.613_614+2del	CA915940309	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399805691	biolink:SequenceVariant	NM_000419.5:c.574+1G>A	CA399805691	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330343	biolink:SequenceVariant	NM_000419.5:c.2172G>A	CA399798895	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330344	biolink:SequenceVariant	NM_000419.5:c.812C>G	CA399805123	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330345	biolink:SequenceVariant	NM_000419.5:c.659A>G	CA399805484	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805552	biolink:SequenceVariant	NM_000419.5:c.625-1G>A	CA399805552	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399796017	biolink:SequenceVariant	NM_000419.5:c.2421G>A	CA399796017	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330348	biolink:SequenceVariant	NM_000419.5:c.3062T>C	CA399787956	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330350	biolink:SequenceVariant	NM_000419.5:c.2051T>G	CA399799849	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1330351	biolink:SequenceVariant	NM_000212.3:c.1690G>C	CA400030376	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:189776	biolink:SequenceVariant	NM_001110792.2(MECP2):c.62+1G>A	CA274678	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:156661	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)	CA274666	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143700	biolink:SequenceVariant	NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	CA233007	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143563	biolink:SequenceVariant	NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe)	CA270398	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143590	biolink:SequenceVariant	NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala)	CA270438	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143583	biolink:SequenceVariant	NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)	CA270431	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143579	biolink:SequenceVariant	NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	CA270424	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143564	biolink:SequenceVariant	NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)	CA270401	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143559	biolink:SequenceVariant	NM_001110792.2(MECP2):c.434G>A (p.Arg145His)	CA274538	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143552	biolink:SequenceVariant	NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu)	CA270373	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143546	biolink:SequenceVariant	NM_001110792.2(MECP2):c.400G>A (p.Val134Met)	CA270366	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143541	biolink:SequenceVariant	NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)	CA294544	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:1334145	biolink:SequenceVariant	NM_001306179.2:c.797A>G	CA386966227	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1334147	biolink:SequenceVariant	NM_000545.8(HNF1A):c.760C>A (p.Leu254Met)	CA386965972	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1173962	biolink:SequenceVariant	NM_001306179.2:c.737T>G	CA386965868	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386954873	biolink:SequenceVariant	NM_001306179.2:c.320T>G	CA386954873	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386954880	biolink:SequenceVariant	NM_001306179.2:c.320T>C	CA386954880	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:805632	biolink:SequenceVariant	NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter)	CA386953303	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:586792	biolink:SequenceVariant	NM_000545.6(HNF1A):c.476G>A (p.Arg159Gln)	CA386960413	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA6831699	biolink:SequenceVariant	NM_001306179.2:c.257T>A	CA6831699	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36826	biolink:SequenceVariant	NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser)	CA214317	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:420064	biolink:SequenceVariant	NM_000545.6(HNF1A):c.685C>T (p.Arg229Ter)	CA6831796	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965163	biolink:SequenceVariant	NM_001306179.1:c.685C>G	CA386965163	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965448	biolink:SequenceVariant	NM_001306179.1:c.709A>C	CA386965448	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965434	biolink:SequenceVariant	NM_001306179.1:c.709A>G	CA386965434	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972754	biolink:SequenceVariant	NM_001306179.1:c.748C>T	CA386965917	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447499	biolink:SequenceVariant	NM_000545.6(HNF1A):c.767C>T (p.Ser256Phe)	CA386966008	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:435424	biolink:SequenceVariant	NM_000545.6(HNF1A):c.864del (p.Pro291fs)	CA6831842	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972814	biolink:SequenceVariant	NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)	CA6831857	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:805637	biolink:SequenceVariant	NM_000545.8(HNF1A):c.872del (p.Pro291fs)	CA6831848	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:129226	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1114G>A (p.Ala372Thr)	CA231160	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36796	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1129del (p.Leu377fs)	CA214257	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:435426	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1137del (p.Val380fs)	CA645372923	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36797	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro)	CA214258	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14928	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)	CA124454	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:435427	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1359del (p.Ser454fs)	CA645372549	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:489311	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1489C>T (p.Gln497Ter)	CA386970379	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:449404	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1504C>G (p.Leu502Val)	CA244536012	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14947	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1592G>C (p.Ser531Thr)	CA124484	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:156667	biolink:SequenceVariant	NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)	CA294710	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:440546	biolink:SequenceVariant	NM_000527.5(LDLR):c.139G>C (p.Asp47His)	CA404074850	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440552	biolink:SequenceVariant	NM_000527.5(LDLR):c.259T>C (p.Trp87Arg)	CA404075655	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161266	biolink:SequenceVariant	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	CA023687	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251213	biolink:SequenceVariant	NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	CA10584911	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251340	biolink:SequenceVariant	NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)	CA10585029	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430763	biolink:SequenceVariant	NM_000527.5(LDLR):c.805G>A (p.Gly269Ser)	CA404080212	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251471	biolink:SequenceVariant	NM_000527.5(LDLR):c.818-2A>G	CA10585149	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:631358	biolink:SequenceVariant	NM_000527.4(LDLR):c.59G>A (p.Gly20Glu)	CA404071849	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252137	biolink:SequenceVariant	NM_000527.5(LDLR):c.1968C>G (p.His656Gln)	CA10585701	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161277	biolink:SequenceVariant	NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	CA023495	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:373430	biolink:SequenceVariant	NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)	CA16043073	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251739	biolink:SequenceVariant	NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala)	CA10585363	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251740	biolink:SequenceVariant	NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)	CA10585364	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431524	biolink:SequenceVariant	NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)	CA305300066	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226313	biolink:SequenceVariant	NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)	CA042622	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251107	biolink:SequenceVariant	NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)	CA10584821	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:1334146	biolink:SequenceVariant	NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)	CA244533124	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA405685492	biolink:SequenceVariant	NM_001042723.2:c.14349+1G>T	CA405685492	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330371	biolink:SequenceVariant	NM_001042723.2:c.533A>G	CA405677115	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133100	biolink:SequenceVariant	NM_000540.2(RYR1):c.1565A>G (p.Tyr522Cys)	CA024287	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65986	biolink:SequenceVariant	NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys)	CA024185	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1330372	biolink:SequenceVariant	NM_001042723.2:c.7307G>A	CA405669616	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:161366	biolink:SequenceVariant	NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly)	CA024053	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133164	biolink:SequenceVariant	NM_000540.3(RYR1):c.6617C>G (p.Thr2206Arg)	CA024620	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12984	biolink:SequenceVariant	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	CA024171	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:374083	biolink:SequenceVariant	NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser)	CA16043557	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12982	biolink:SequenceVariant	NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:159865	biolink:SequenceVariant	NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr)	CA025003	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:329095	biolink:SequenceVariant	NM_000540.2(RYR1):c.10042C>T (p.Arg3348Cys)	CA079715	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12972	biolink:SequenceVariant	NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	CA024787	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:188773	biolink:SequenceVariant	NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)	CA273939	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371126	biolink:SequenceVariant	NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)	CA8815566	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:933520	biolink:SequenceVariant	NM_000152.5(GAA):c.1396del (p.Val466fs)	CA658795256	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401360532	biolink:SequenceVariant	NM_001079804.3:c.246C>A	CA401360532	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:12977	biolink:SequenceVariant	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	CA024622	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12971	biolink:SequenceVariant	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	CA024784	HGNC:10483	NCBITaxon:9606	Homo sapiens
CA399805999	biolink:SequenceVariant	NM_000419.5:c.432G>A	CA399805999	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1342944	biolink:SequenceVariant	NM_001306179.2:c.139G>A	CA386953145	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447502	biolink:SequenceVariant	NM_000545.6(HNF1A):c.801_802insGGG (p.Phe268_Ala269insGly)	CA658658179	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:251582	biolink:SequenceVariant	NM_000527.5(LDLR):c.977C>T (p.Ser326Phe)	CA10585236	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251812	biolink:SequenceVariant	NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn)	CA10585425	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:548076	biolink:SequenceVariant	NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp)	CA404085992	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440642	biolink:SequenceVariant	NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu)	CA404085998	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:375840	biolink:SequenceVariant	NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)	CA16602353	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:963080	biolink:SequenceVariant	NM_000527.5(LDLR):c.2480T>A (p.Val827Asp)	CA404099252	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183126	biolink:SequenceVariant	NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)	CA023585	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252029	biolink:SequenceVariant	NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu)	CA10585609	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:293715	biolink:SequenceVariant	NM_000261.2(MYOC):c.648G>A (p.Lys216=)	CA1244204	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342952	biolink:SequenceVariant	NM_001306179.2:c.82C>T	CA386952736	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342953	biolink:SequenceVariant	NM_001306179.2:c.342dup	CA2018007656	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342954	biolink:SequenceVariant	NM_001306179.2:c.1168G>C	CA386969139	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342955	biolink:SequenceVariant	NM_001306179.2:c.833G>A	CA6831838	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342956	biolink:SequenceVariant	NM_001306179.2:c.1544C>T	CA6832105	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:102812	biolink:SequenceVariant	NM_000277.2(PAH):c.737C>A (p.Ala246Asp)	CA229726	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102887	biolink:SequenceVariant	NM_000277.1(PAH):c.899C>T (p.Ala300Val)	CA229839	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386954870	biolink:SequenceVariant	NM_001306179.2:c.319C>G	CA386954870	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342958	biolink:SequenceVariant	NM_001306179.2:c.26A>C	CA386952306	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA16020959	biolink:SequenceVariant	NM_001354304.2:c.1194A>C	CA16020959	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102923	biolink:SequenceVariant	NM_000277.1(PAH):c.982A>G (p.Thr328Ala)	CA229891	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102862	biolink:SequenceVariant	NM_000277.2(PAH):c.833C>A (p.Thr278Asn)	CA229802	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020979	biolink:SequenceVariant	NM_000277.1:c.1244A>T	CA16020979	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102468	biolink:SequenceVariant	NM_000277.2(PAH):c.1012G>T (p.Asp338Tyr)	CA229269	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102790	biolink:SequenceVariant	NM_000277.2(PAH):c.699C>A (p.Phe233Leu)	CA229699	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102791	biolink:SequenceVariant	NM_000277.2(PAH):c.704A>C (p.Gln235Pro)	CA229700	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102801	biolink:SequenceVariant	NM_000277.2(PAH):c.718T>G (p.Phe240Val)	CA229713	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102802	biolink:SequenceVariant	NM_000277.2(PAH):c.719T>C (p.Phe240Ser)	CA229715	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102809	biolink:SequenceVariant	NM_000277.2(PAH):c.733G>A (p.Val245Met)	CA229722	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1342195	biolink:SequenceVariant	NM_000261.2:c.284T>C	CA343718858	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342208	biolink:SequenceVariant	NM_000261.2:c.608C>T	CA343727142	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342209	biolink:SequenceVariant	NM_000261.2:c.731G>T	CA1244164	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7959	biolink:SequenceVariant	NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr)	CA119184	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342210	biolink:SequenceVariant	NM_000261.2:c.736G>A	CA343726300	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342196	biolink:SequenceVariant	NM_000261.2:c.752T>C	CA343726262	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7960	biolink:SequenceVariant	NM_000261.2(MYOC):c.754G>A (p.Gly252Arg)	CA119185	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342197	biolink:SequenceVariant	NM_000261.2:c.856T>C	CA343725818	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342198	biolink:SequenceVariant	NM_000261.2:c.976G>C	CA343725268	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342199	biolink:SequenceVariant	NM_000261.2:c.1008del	CA1139655085	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342200	biolink:SequenceVariant	NM_000261.2:c.1079T>A	CA343724796	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7947	biolink:SequenceVariant	NM_000261.2(MYOC):c.1091G>T (p.Gly364Val)	CA119170	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342201	biolink:SequenceVariant	NM_000261.2:c.1119G>A	CA32685688	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342202	biolink:SequenceVariant	NM_000261.2:c.1130C>T	CA1244075	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342203	biolink:SequenceVariant	NM_000261.2:c.1139A>C	CA343724571	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342204	biolink:SequenceVariant	NM_000261.2:c.1138G>A	CA343724574	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342205	biolink:SequenceVariant	NM_000261.2:c.1150G>A	CA343724529	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342206	biolink:SequenceVariant	NM_000261.2:c.1300G>A	CA343723925	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342207	biolink:SequenceVariant	NM_000261.2:c.1412A>G	CA1244027	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1076425	biolink:SequenceVariant	NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)	CA397722281	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:617952	biolink:SequenceVariant	NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	CA287434293	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:447493	biolink:SequenceVariant	NM_000545.6(HNF1A):c.4delG (p.Val2Phefs)	CA658658175	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342945	biolink:SequenceVariant	NM_001306179.2:c.14T>G	CA386952150	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:189172	biolink:SequenceVariant	NM_000152.5(GAA):c.1979G>A (p.Arg660His)	CA274455	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:558634	biolink:SequenceVariant	NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)	CA401368911	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:558604	biolink:SequenceVariant	NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	CA8815561	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1342946	biolink:SequenceVariant	NC_000012.12:g.120978482G>A	CA915940616	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342947	biolink:SequenceVariant	NM_000545.8(HNF1A):c.-258A>G	CA244520152	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:307454	biolink:SequenceVariant	NM_000545.8(HNF1A):c.-6C>T	CA6831648	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342948	biolink:SequenceVariant	NM_001306179.2:c.1A>C	CA386951959	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36814	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1A>G (p.Met1Val)	CA214292	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:502525	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1A>T (p.Met1Leu)	CA386951973	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342949	biolink:SequenceVariant	NM_001306179.2:c.2T>C	CA386951978	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342950	biolink:SequenceVariant	NM_001306179.2:c.16A>T	CA386952188	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1342951	biolink:SequenceVariant	NM_001306179.2:c.17G>A	CA386952195	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:631580	biolink:SequenceVariant	NM_000261.2(MYOC):c.158T>C (p.Val53Ala)	CA1244317	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342967	biolink:SequenceVariant	NM_000261.2:c.761C>T	CA343726245	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342968	biolink:SequenceVariant	NM_000261.2:c.898G>A	CA1244125	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342969	biolink:SequenceVariant	NM_000261.2:c.967G>A	CA343725312	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342962	biolink:SequenceVariant	NM_000261.2:c.1087G>A	CA343724770	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342963	biolink:SequenceVariant	NM_000261.2:c.1100_1103delinsT	CA1139532761	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7949	biolink:SequenceVariant	NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	CA119172	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7948	biolink:SequenceVariant	NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu)	CA119171	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7961	biolink:SequenceVariant	NM_000261.2(MYOC):c.1138G>C (p.Asp380His)	CA119186	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342964	biolink:SequenceVariant	NM_000261.2:c.1139A>G	CA343724569	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342965	biolink:SequenceVariant	NM_000261.2:c.1138G>T	CA343724573	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1342966	biolink:SequenceVariant	NM_000261.2:c.1187_1188insCCCAGA	CA1139654950	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7946	biolink:SequenceVariant	NM_000261.2(MYOC):c.1309T>C (p.Tyr437His)	CA119169	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA397726277	biolink:SequenceVariant	NM_000018.4:c.1968A>C	CA397726277	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:554491	biolink:SequenceVariant	NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	CA8337766	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:189159	biolink:SequenceVariant	NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	CA274436	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:474900	biolink:SequenceVariant	NM_000018.4(ACADVL):c.63-2A>C	CA397722016	HGNC:92	NCBITaxon:9606	Homo sapiens
CA624861219	biolink:SequenceVariant	NM_000018.4:c.103_112dup	CA624861219	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:386274	biolink:SequenceVariant	NM_000018.4(ACADVL):c.477+17G>A	CA8337710	HGNC:92	NCBITaxon:9606	Homo sapiens
CA397723028	biolink:SequenceVariant	NM_000018.4:c.494A>T	CA397723028	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:141522	biolink:SequenceVariant	NM_000051.3(ATM):c.3284G>A (p.Arg1095Lys)	CA165678	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:453341	biolink:SequenceVariant	NC_000011.10:g.(?_108287594)_(108287721_?)del	-	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:583716	biolink:SequenceVariant	NC_000011.9:g.(?_108137888)_(108225611_?)dup	-	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:453461	biolink:SequenceVariant	NM_000051.3(ATM):c.331+7G>A	CA658656149	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:231535	biolink:SequenceVariant	NM_000051.3(ATM):c.332-1G>A	CA6264590	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3018	biolink:SequenceVariant	NM_000051.4:c.8575TCT[1]	-	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3033	biolink:SequenceVariant	NM_001351834.2(ATM):c.3245_3247delinsTGAT (p.His1082fs)	CA298025	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:818362	biolink:SequenceVariant	NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)	CA915947736	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:140818	biolink:SequenceVariant	NM_000051.4(ATM):c.6997dup	CA345709	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:407718	biolink:SequenceVariant	NM_000051.3(ATM):c.8585-2A>C	CA16613454	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:929198	biolink:SequenceVariant	NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)	CA1139662321	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:220555	biolink:SequenceVariant	NM_000051.3(ATM):c.1607+1G>T	CA348209	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:186558	biolink:SequenceVariant	NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro)	CA195169	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:231842	biolink:SequenceVariant	NM_000051.3(ATM):c.7919C>G (p.Thr2640Ser)	CA10579274	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:490737	biolink:SequenceVariant	NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro)	CA382518439	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3023	biolink:SequenceVariant	NM_000051.3(ATM):c.7271T>G (p.Val2424Gly)	CA115930	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:133641	biolink:SequenceVariant	NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly)	CA157198	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:420799	biolink:SequenceVariant	NM_000051.3(ATM):c.8268+1G>A	CA16619252	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:187275	biolink:SequenceVariant	NM_000051.3(ATM):c.2T>C (p.Met1Thr)	CA197209	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:141289	biolink:SequenceVariant	NM_000051.3(ATM):c.1905_1910del (p.His635_His636del)	CA165011	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3029	biolink:SequenceVariant	NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter)	CA115937	HGNC:795	NCBITaxon:9606	Homo sapiens
CA16020825	biolink:SequenceVariant	NM_001354304.2:c.599C>A	CA16020825	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102534	biolink:SequenceVariant	NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)	CA229357	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA916084428	biolink:SequenceVariant	NM_001354304.2:c.353-2059_353-1160del	CA916084428	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA645372267	biolink:SequenceVariant	NM_000277.1:c.835_836delinsTG	CA645372267	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102820	biolink:SequenceVariant	NM_000277.3(PAH):c.743T>G (p.Leu248Arg)	CA229738	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102813	biolink:SequenceVariant	NM_000277.2(PAH):c.737C>T (p.Ala246Val)	CA229727	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102822	biolink:SequenceVariant	NM_000277.2(PAH):c.746T>A (p.Leu249His)	CA229740	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102830	biolink:SequenceVariant	NM_000277.2(PAH):c.770G>T (p.Gly257Val)	CA229753	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020852	biolink:SequenceVariant	NM_001354304.2:c.750_751del	CA16020852	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020845	biolink:SequenceVariant	NM_001354304.2:c.703C>T	CA16020845	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:650581	biolink:SequenceVariant	NM_000018.4(ACADVL):c.552del (p.Ile184fs)	CA915949503	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:453367	biolink:SequenceVariant	NM_000051.3(ATM):c.1442T>G (p.Leu481Ter)	CA382534080	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:449521	biolink:SequenceVariant	NM_000540.2(RYR1):c.7075C>T (p.Arg2359Trp)	CA069103	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:562372	biolink:SequenceVariant	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	CA386952237	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:40153	biolink:SequenceVariant	NC_012920.1:m.9191T>C	CA345914	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9650	biolink:SequenceVariant	NC_012920.1:m.9176T>G	CA340929	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9645	biolink:SequenceVariant	NC_012920.1:m.8851T>C	CA120598	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9733	biolink:SequenceVariant	m.3697G>A	CA120647	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:65519	biolink:SequenceVariant	m.3700G>A	CA344828	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:9736	biolink:SequenceVariant	m.3733G>A	CA340950	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:1675057	biolink:SequenceVariant	NM_001306179.2:c.22C>A	CA386952266	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338407	biolink:SequenceVariant	NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup)	CA2573051030	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952304	biolink:SequenceVariant	NM_001306179.2:c.25C>T	CA386952304	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:994546	biolink:SequenceVariant	NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)	CA386952308	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952326	biolink:SequenceVariant	NM_001306179.2:c.28A>C	CA386952326	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:307455	biolink:SequenceVariant	NM_000545.8(HNF1A):c.30G>A (p.Thr10=)	CA10641190	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952398	biolink:SequenceVariant	NM_001306179.2:c.34C>G	CA386952398	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952410	biolink:SequenceVariant	NM_001306179.2:c.34C>T	CA386952410	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952411	biolink:SequenceVariant	NM_001306179.2:c.35T>A	CA386952411	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:435422	biolink:SequenceVariant	NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	CA6831654	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:12976	biolink:SequenceVariant	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	CA024603	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12967	biolink:SequenceVariant	NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	CA018598	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133029	biolink:SequenceVariant	NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	CA023956	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133106	biolink:SequenceVariant	NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)	CA024299	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12974	biolink:SequenceVariant	NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	CA024593	HGNC:10483	NCBITaxon:9606	Homo sapiens
CA386952412	biolink:SequenceVariant	NM_001306179.2:c.35T>C	CA386952412	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952415	biolink:SequenceVariant	NM_001306179.2:c.35T>G	CA386952415	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952464	biolink:SequenceVariant	NM_001306179.2:c.41C>T	CA386952464	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:307456	biolink:SequenceVariant	NM_000545.8(HNF1A):c.42G>A (p.Ala14=)	CA6831657	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:251552	biolink:SequenceVariant	NM_000527.5(LDLR):c.941-12G>A	CA10585217	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:996231	biolink:SequenceVariant	NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr)	CA404074852	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:225097	biolink:SequenceVariant	NM_000527.5(LDLR):c.190+4A>T	CA042227	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251747	biolink:SequenceVariant	NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)	CA033186	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183123	biolink:SequenceVariant	NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)	CA023561	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251996	biolink:SequenceVariant	NM_000527.5(LDLR):c.1721G>A (p.Arg574His)	CA036197	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:237867	biolink:SequenceVariant	NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)	CA036228	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA2573051031	biolink:SequenceVariant	NM_001306179.2:c.42_51delinsTG	CA2573051031	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952499	biolink:SequenceVariant	NM_001306179.2:c.46C>G	CA386952499	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952505	biolink:SequenceVariant	NM_001306179.2:c.47T>C	CA386952505	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952516	biolink:SequenceVariant	NM_001306179.2:c.49C>G	CA386952516	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972749	biolink:SequenceVariant	NM_000545.8(HNF1A):c.50T>A (p.Leu17His)	CA386952521	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:418252	biolink:SequenceVariant	NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)	CA16619450	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051032	biolink:SequenceVariant	NM_001306179.2:c.71_72del	CA2573051032	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:134506	biolink:SequenceVariant	NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr)	CA160004	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952675	biolink:SequenceVariant	NM_001306179.2:c.73G>C	CA386952675	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952705	biolink:SequenceVariant	NM_001306179.2:c.77T>C	CA386952705	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952722	biolink:SequenceVariant	NM_001306179.2:c.80T>C	CA386952722	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952724	biolink:SequenceVariant	NM_001306179.2:c.80T>G	CA386952724	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386952811	biolink:SequenceVariant	NM_001306179.2:c.94G>T	CA386952811	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA244520729	biolink:SequenceVariant	NM_001306179.2:c.98C>T	CA244520729	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953008	biolink:SequenceVariant	NM_001306179.2:c.121G>T	CA386953008	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36798	biolink:SequenceVariant	NM_000545.8(HNF1A):c.130del (p.Leu44fs)	CA214261	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953128	biolink:SequenceVariant	NM_001306179.2:c.137A>C	CA386953128	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:882461	biolink:SequenceVariant	NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	CA6831669	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953149	biolink:SequenceVariant	NM_001306179.2:c.140G>A	CA386953149	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14938	biolink:SequenceVariant	NM_000545.8(HNF1A):c.142del (p.Glu48fs)	CA913190364	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051034	biolink:SequenceVariant	NM_001306179.2:c.164_168del	CA2573051034	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36809	biolink:SequenceVariant	NM_000545.8(HNF1A):c.169del (p.Leu57fs)	CA214284	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051035	biolink:SequenceVariant	NM_001306179.2:c.185del	CA2573051035	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051036	biolink:SequenceVariant	NM_001306179.2:c.186del	CA2573051036	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953604	biolink:SequenceVariant	NM_001306179.2:c.194G>A	CA386953604	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051037	biolink:SequenceVariant	NM_001306179.2:c.196dup	CA2573051037	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA6831684	biolink:SequenceVariant	NM_001306179.2:c.202C>T	CA6831684	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051038	biolink:SequenceVariant	NM_001306179.2:c.206del	CA2573051038	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA244520882	biolink:SequenceVariant	NM_001306179.2:c.203G>A	CA244520882	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953772	biolink:SequenceVariant	NM_001306179.2:c.217G>T	CA386953772	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:251581	biolink:SequenceVariant	NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)	CA10585235	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3692	biolink:SequenceVariant	NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	CA023792	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440612	biolink:SequenceVariant	NM_000527.5(LDLR):c.910G>C (p.Asp304His)	CA404081038	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226336	biolink:SequenceVariant	NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	CA10576290	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251532	biolink:SequenceVariant	NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)	CA10585201	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251531	biolink:SequenceVariant	NM_000527.5(LDLR):c.932A>C (p.Lys311Thr)	CA10585200	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251782	biolink:SequenceVariant	NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn)	CA10585399	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251784	biolink:SequenceVariant	NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)	CA10585401	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:189296	biolink:SequenceVariant	NM_000527.5(LDLR):c.313+2T>C	CA023690	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:200920	biolink:SequenceVariant	NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	CA023755	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251505	biolink:SequenceVariant	NM_000527.5(LDLR):c.889A>C (p.Asn297His)	CA10585178	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:441198	biolink:SequenceVariant	NM_000527.5(LDLR):c.890A>G (p.Asn297Ser)	CA404080953	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:441197	biolink:SequenceVariant	NM_000527.5(LDLR):c.890A>C (p.Asn297Thr)	CA404080954	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:998053	biolink:SequenceVariant	NM_000527.5(LDLR):c.976T>C (p.Ser326Pro)	CA404082666	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:200923	biolink:SequenceVariant	NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)	CA023633	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251102	biolink:SequenceVariant	NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)	CA10584817	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:541714	biolink:SequenceVariant	NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	CA658798683	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932830	biolink:SequenceVariant	NM_000018.4(ACADVL):c.79_100del (p.Leu27fs)	CA1139665134	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:552361	biolink:SequenceVariant	NM_000018.4(ACADVL):c.266del (p.Pro89fs)	CA8337611	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:541718	biolink:SequenceVariant	NM_000018.4(ACADVL):c.104del (p.Pro35fs)	CA624861220	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:857574	biolink:SequenceVariant	NM_000018.4(ACADVL):c.128del (p.Gly43fs)	CA916083526	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:550796	biolink:SequenceVariant	NM_000018.4(ACADVL):c.138+1G>A	CA8337554	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203588	biolink:SequenceVariant	NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)	CA312282	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:943198	biolink:SequenceVariant	NM_000018.4(ACADVL):c.253dup (p.Asp85fs)	CA624860683	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932733	biolink:SequenceVariant	NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)	CA397722206	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:569888	biolink:SequenceVariant	NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	CA287434246	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:556238	biolink:SequenceVariant	NM_000018.4(ACADVL):c.277+2T>G	CA397722484	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932734	biolink:SequenceVariant	NM_000018.4(ACADVL):c.278-1G>A	CA397722486	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:189116	biolink:SequenceVariant	NM_000018.4:c.298_299del	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:474896	biolink:SequenceVariant	NM_000018.4(ACADVL):c.342+1G>C	CA397722627	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203594	biolink:SequenceVariant	NM_000018.4(ACADVL):c.343-1G>A	CA312290	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1624	biolink:SequenceVariant	NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs)	CA220206	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932735	biolink:SequenceVariant	NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)	CA397722699	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1074732	biolink:SequenceVariant	NM_000018.4(ACADVL):c.388del (p.Glu130fs)	CA2499224898	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:951288	biolink:SequenceVariant	NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	CA1139665138	HGNC:92	NCBITaxon:9606	Homo sapiens
CA386954172	biolink:SequenceVariant	NM_001306179.2:c.259A>T	CA386954172	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36816	biolink:SequenceVariant	NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)	CA214295	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051039	biolink:SequenceVariant	NM_001306179.2:c.282dup	CA2573051039	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36817	biolink:SequenceVariant	NM_000545.8(HNF1A):c.313dup (p.Glu105fs)	CA214298	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386954942	biolink:SequenceVariant	NM_001306179.2:c.323T>C	CA386954942	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447486	biolink:SequenceVariant	NM_000545.8(HNF1A):c.326+2T>G	CA386955008	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA913203553	biolink:SequenceVariant	NM_001306179.1:c.326+2dup	CA913203553	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36819	biolink:SequenceVariant	NM_000545.8(HNF1A):c.326+4A>G	CA214300	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:307458	biolink:SequenceVariant	NM_000545.8(HNF1A):c.327-14T>C	CA10640432	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953852	biolink:SequenceVariant	NM_001306179.2:c.225C>A	CA386953852	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386953857	biolink:SequenceVariant	NM_001306179.2:c.225C>G	CA386953857	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14942	biolink:SequenceVariant	NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)	CA124475	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959120	biolink:SequenceVariant	NM_001306179.1:c.364T>C	CA386959120	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36820	biolink:SequenceVariant	NM_000545.8:c.369GCA[4]	-	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959975	biolink:SequenceVariant	NM_001306179.2:c.433T>C	CA386959975	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447489	biolink:SequenceVariant	NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)	CA386959990	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36821	biolink:SequenceVariant	NM_000545.8(HNF1A):c.441C>A (p.His147Gln)	CA214304	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960405	biolink:SequenceVariant	NM_001306179.1:c.475C>G	CA386960405	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447490	biolink:SequenceVariant	NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro)	CA386960483	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1317072	biolink:SequenceVariant	NM_001306179.1:c.490A>C	CA386960511	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:377965	biolink:SequenceVariant	NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)	CA16606083	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:372380	biolink:SequenceVariant	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	CA6831769	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:449035	biolink:SequenceVariant	NM_000545.6(HNF1A):c.527-1G>A	CA386963414	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36824	biolink:SequenceVariant	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	CA214311	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:381588	biolink:SequenceVariant	NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	CA16606474	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964227	biolink:SequenceVariant	NM_001306179.1:c.607C>A	CA386964227	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338381	biolink:SequenceVariant	NM_001306179.2:c.607C>T	CA386964246	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:129235	biolink:SequenceVariant	NM_000545.6(HNF1A):c.608G>A (p.Arg203His)	CA153100	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:393434	biolink:SequenceVariant	NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)	CA16609261	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36825	biolink:SequenceVariant	NM_000545.8:c.663GAA[1]	-	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:435428	biolink:SequenceVariant	NM_000545.6(HNF1A):c.676_678del (p.Lys226del)	CA482164157	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:379904	biolink:SequenceVariant	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	CA16606085	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965177	biolink:SequenceVariant	NM_001306179.1:c.686G>C	CA386965177	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:393456	biolink:SequenceVariant	NM_000545.8(HNF1A):c.694dup (p.Leu232fs)	CA16609272	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA913203569	biolink:SequenceVariant	NM_001306179.1:c.696dup	CA913203569	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447497	biolink:SequenceVariant	NM_000545.8(HNF1A):c.710A>C (p.Asn237Thr)	CA386965452	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965461	biolink:SequenceVariant	NM_001306179.1:c.710A>G	CA386965461	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA915940299	biolink:SequenceVariant	NM_001306179.1:c.711_713del	CA915940299	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:452526	biolink:SequenceVariant	NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)	CA658658177	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36828	biolink:SequenceVariant	NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)	CA214321	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965838	biolink:SequenceVariant	NM_001306179.1:c.732A>T	CA386965838	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:838654	biolink:SequenceVariant	NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)	CA397723170	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203575	biolink:SequenceVariant	NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	CA312257	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1676714	biolink:SequenceVariant	NC_000012.12:g.120978483_120978484del	CA2573051029	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965841	biolink:SequenceVariant	NM_001306179.1:c.733G>A	CA386965841	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA915940438	biolink:SequenceVariant	NM_001306179.2:c.811del	CA915940438	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965901	biolink:SequenceVariant	NM_001306179.2:c.745T>C	CA386965901	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447498	biolink:SequenceVariant	NM_000545.6(HNF1A):c.749A>C (p.Gln250Pro)	CA386965923	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965984	biolink:SequenceVariant	NM_001306179.2:c.763G>A	CA386965984	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:265436	biolink:SequenceVariant	NM_000545.6(HNF1A):c.779C>T (p.Thr260Met)	CA10588543	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:562367	biolink:SequenceVariant	NM_000545.6(HNF1A):c.787C>T (p.Arg263Cys)	CA6831834	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:379138	biolink:SequenceVariant	NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	CA16606475	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966158	biolink:SequenceVariant	NM_001306179.1:c.788G>T	CA386966158	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36830	biolink:SequenceVariant	NM_000545.6(HNF1A):c.790G>T (p.Val264Phe)	CA214327	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338730	biolink:SequenceVariant	NM_001306179.1:c.811C>G	CA386966350	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:265193	biolink:SequenceVariant	NM_000545.6(HNF1A):c.811C>T (p.Arg271Trp)	CA10588544	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447504	biolink:SequenceVariant	NM_000545.6(HNF1A):c.817A>C (p.Lys273Gln)	CA386966376	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA916079828	biolink:SequenceVariant	NM_001306179.2:c.864dup	CA916079828	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1315612	biolink:SequenceVariant	NM_001306179.2:c.865C>T	CA386966635	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA6831851	biolink:SequenceVariant	NM_001306179.2:c.866C>A	CA6831851	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972753	biolink:SequenceVariant	NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)	CA244533104	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14927	biolink:SequenceVariant	NM_000545.6(HNF1A):c.872dup (p.Gly292fs)	CA124453	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447503	biolink:SequenceVariant	NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)	CA386966363	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966358	biolink:SequenceVariant	NM_001306179.1:c.814C>A	CA386966358	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:449403	biolink:SequenceVariant	NM_000545.6(HNF1A):c.812G>A (p.Arg271Gln)	CA6831835	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447501	biolink:SequenceVariant	NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)	CA386966192	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447494	biolink:SequenceVariant	NM_000545.6(HNF1A):c.526+2dup	CA658658176	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA6831859	biolink:SequenceVariant	NM_001306179.2:c.872C>T	CA6831859	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA916084342	biolink:SequenceVariant	NM_001306179.2:c.1137dup	CA916084342	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:102631	biolink:SequenceVariant	NM_000277.3(PAH):c.208T>C (p.Ser70Pro)	CA229488	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102599	biolink:SequenceVariant	NM_000277.1(PAH):c.155T>C (p.Leu52Ser)	CA229443	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102863	biolink:SequenceVariant	NM_000277.1(PAH):c.833C>T (p.Thr278Ile)	CA229803	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102836	biolink:SequenceVariant	NM_000277.2(PAH):c.794G>A (p.Cys265Tyr)	CA229763	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020858	biolink:SequenceVariant	NM_000277.1:c.793T>C	CA16020858	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102835	biolink:SequenceVariant	NM_000277.2(PAH):c.793T>G (p.Cys265Gly)	CA229762	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102651	biolink:SequenceVariant	NM_000277.3(PAH):c.329C>T (p.Ser110Leu)	CA229516	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:624	biolink:SequenceVariant	NM_000277.2(PAH):c.997C>T (p.Leu333Phe)	CA114366	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020834	biolink:SequenceVariant	NM_000277.1:c.667A>T	CA16020834	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020917	biolink:SequenceVariant	NM_000277.3:c.998T>C	CA16020917	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:430837	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1501+1G>A	CA386970409	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386971548	biolink:SequenceVariant	NM_001306179.2:c.1505T>A	CA386971548	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:134513	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1720_1733delGGCATCCAGCACCTinsGGCATCCAGCACC (p.Leu578Argfs)	CA915946722	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447484	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1768G>A (p.Val590Met)	CA386973441	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386941334	biolink:SequenceVariant	NM_022895.3:c.*2984G>A	CA386941334	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA386941084	biolink:SequenceVariant	NM_022895.3:c.*3032G>A	CA386941084	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA386941079	biolink:SequenceVariant	NM_022895.3:c.*3033G>C	CA386941079	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA244513452	biolink:SequenceVariant	NM_022895.3:c.*3077T>G	CA244513452	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA2573051041	biolink:SequenceVariant	NM_022895.3:c.*3084_*3085del	CA2573051041	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA386952842	biolink:SequenceVariant	NM_001306179.2:c.98C>G	CA386952842	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386958679	biolink:SequenceVariant	NM_001306179.2:c.327-2A>T	CA386958679	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386958695	biolink:SequenceVariant	NM_001306179.2:c.327-1G>T	CA386958695	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447500	biolink:SequenceVariant	NM_000545.6(HNF1A):c.788_789GT[1] (p.Val264fs)	-	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14945	biolink:SequenceVariant	NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)	CA124481	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386970422	biolink:SequenceVariant	NM_001306179.2:c.1501+5G>C	CA386970422	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:252220	biolink:SequenceVariant	NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)	CA10585773	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252221	biolink:SequenceVariant	NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)	CA10585774	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36823	biolink:SequenceVariant	NM_000545.8(HNF1A):c.518_526+37del	CA214310	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:134509	biolink:SequenceVariant	NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr)	CA160013	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:918071	biolink:SequenceVariant	NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)	CA386952569	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:843407	biolink:SequenceVariant	NM_000527.5(LDLR):c.758G>A (p.Arg253Gln)	CA029258	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251435	biolink:SequenceVariant	NM_000527.5(LDLR):c.758G>C (p.Arg253Pro)	CA10585115	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226351	biolink:SequenceVariant	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	CA033073	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226352	biolink:SequenceVariant	NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro)	CA10576302	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250966	biolink:SequenceVariant	NM_000527.5(LDLR):c.1A>C (p.Met1Leu)	CA10584718	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250967	biolink:SequenceVariant	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	CA10584719	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:441174	biolink:SequenceVariant	NM_000527.5(LDLR):c.2T>C (p.Met1Thr)	CA404071092	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440536	biolink:SequenceVariant	NM_000527.5(LDLR):c.3G>A (p.Met1Ile)	CA404071097	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250969	biolink:SequenceVariant	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	CA10584721	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3739	biolink:SequenceVariant	NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	CA023721	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA2573051050	biolink:SequenceVariant	NM_022895.3:c.*2968_*2994dup	CA2573051050	HGNC:25719	NCBITaxon:9606	Homo sapiens
CLINVAR:14935	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)	CA124466	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:920048	biolink:SequenceVariant	NM_000527.5(LDLR):c.970G>T (p.Gly324Cys)	CA404082654	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251580	biolink:SequenceVariant	NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)	CA10585234	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440663	biolink:SequenceVariant	NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)	CA404089836	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252084	biolink:SequenceVariant	NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)	CA10585655	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252085	biolink:SequenceVariant	NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys)	CA10585656	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250957	biolink:SequenceVariant	NM_000527.4(LDLR):c.-101T>C	CA10584711	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251508	biolink:SequenceVariant	NM_000527.5(LDLR):c.895G>T (p.Ala299Ser)	CA10585180	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251507	biolink:SequenceVariant	NM_000527.5(LDLR):c.895G>A (p.Ala299Thr)	CA10585179	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36459	biolink:SequenceVariant	NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)	CA023637	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252224	biolink:SequenceVariant	NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)	CA10585777	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250933	biolink:SequenceVariant	c.(?_-187)_(190+1_191-1)del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251611	biolink:SequenceVariant	NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)	CA031354	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226342	biolink:SequenceVariant	NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)	CA031387	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440627	biolink:SequenceVariant	NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)	CA404083811	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251693	biolink:SequenceVariant	NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu)	CA10585332	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA397722480	biolink:SequenceVariant	NM_000018.4:c.277+1G>A	CA397722480	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:648624	biolink:SequenceVariant	NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	CA913013630	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:181279	biolink:SequenceVariant	NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val)	CA016070	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181390	biolink:SequenceVariant	NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp)	CA015001	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43095	biolink:SequenceVariant	NM_000257.4(MYH7):c.611G>A (p.Arg204His)	CA016546	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:953854	biolink:SequenceVariant	NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)	CA397723002	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932736	biolink:SequenceVariant	NM_000018.4(ACADVL):c.541dup (p.His181fs)	CA397723118	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:250970	biolink:SequenceVariant	NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)	CA10584722	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251309	biolink:SequenceVariant	NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	CA044039	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3683	biolink:SequenceVariant	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)	CA023802	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3691	biolink:SequenceVariant	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	CA023749	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226333	biolink:SequenceVariant	NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	CA044327	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251421	biolink:SequenceVariant	NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)	CA10585102	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440613	biolink:SequenceVariant	NM_000527.5(LDLR):c.911A>T (p.Asp304Val)	CA404081041	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA386972260	biolink:SequenceVariant	NM_001306179.2:c.1623+1G>A	CA386972260	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:256597	biolink:SequenceVariant	NM_000545.6(HNF1A):c.1548C>T (p.Gly516=)	CA10587144	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36829	biolink:SequenceVariant	NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)	CA214324	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338571	biolink:SequenceVariant	NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys)	CA386966196	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36832	biolink:SequenceVariant	NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly)	CA214333	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:382774	biolink:SequenceVariant	NM_000545.8(HNF1A):c.870C>T (p.Pro290=)	CA16606476	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386970411	biolink:SequenceVariant	NM_001306179.2:c.1501+1G>T	CA386970411	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36803	biolink:SequenceVariant	NM_000545.8:c.1506_1507dup	-	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:256598	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1623+3A>G	CA10587145	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051033	biolink:SequenceVariant	NM_001306179.2:c.129_130delinsA	CA2573051033	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:307462	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1768+11C>T	CA10636633	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36812	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1768+65dup	CA214291	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386940950	biolink:SequenceVariant	NM_022895.3:c.*3089C>T	CA386940950	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA2573051044	biolink:SequenceVariant	NM_022895.3:c.*3054dup	CA2573051044	HGNC:25719	NCBITaxon:9606	Homo sapiens
CLINVAR:438709	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1819dup (p.Gln607fs)	CA645509328	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051043	biolink:SequenceVariant	NM_022895.3:c.*3055del	CA2573051043	HGNC:25719	NCBITaxon:9606	Homo sapiens
CLINVAR:134507	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1896A>G (p.Ter632=)	CA160007	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA6832194	biolink:SequenceVariant	NM_022895.3:c.*3079C>G	CA6832194	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA2573051045	biolink:SequenceVariant	NM_022895.3:c.*3036_*3037del	CA2573051045	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA2573051046	biolink:SequenceVariant	NM_022895.3:c.*3016_*3017del	CA2573051046	HGNC:25719	NCBITaxon:9606	Homo sapiens
CLINVAR:307474	biolink:SequenceVariant	NM_000545.8(HNF1A):c.*1071G>T	CA10641201	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:376917	biolink:SequenceVariant	NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	CA16603209	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:371068	biolink:SequenceVariant	NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	CA16041859	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:373614	biolink:SequenceVariant	NM_000018.4(ACADVL):c.316_325del (p.Val106fs)	CA16043042	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:929167	biolink:SequenceVariant	NM_001079804.3:c.1716C>G	CA401369055	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:4025	biolink:SequenceVariant	NM_000152.5(GAA):c.896T>G (p.Leu299Arg)	CA116601	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401366477	biolink:SequenceVariant	NM_001079804.3:c.1385T>C	CA401366477	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:180144	biolink:SequenceVariant	NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	CA273686	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:430167	biolink:SequenceVariant	NM_000152.5(GAA):c.1626C>G (p.Pro542=)	CA294895065	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:307467	biolink:SequenceVariant	NM_000545.8(HNF1A):c.*391G>C	CA10632147	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:48256	biolink:SequenceVariant	NM_194248.2(OTOF):c.5193-1G>A	CA262046		NCBITaxon:9606	Homo sapiens
CLINVAR:6137	biolink:SequenceVariant	NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	CA340525	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:21831	biolink:SequenceVariant	NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	CA342562	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:48253	biolink:SequenceVariant	NM_194248.2(OTOF):c.5098G>C	CA345132	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:897955	biolink:SequenceVariant	NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)	CA1562832	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:48235	biolink:SequenceVariant	NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)	CA142888	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:500061	biolink:SequenceVariant	NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)	CA8423030	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:666995	biolink:SequenceVariant	NM_016239.4(MYO15A):c.9517+2T>C	CA398637054	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:505185	biolink:SequenceVariant	NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)	CA8422996	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:930033	biolink:SequenceVariant	NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter)	CA398643026	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:504630	biolink:SequenceVariant	NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)	CA8423917	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:632271	biolink:SequenceVariant	NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)	CA8423796	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:623347	biolink:SequenceVariant	NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)	CA913191112	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:449526	biolink:SequenceVariant	NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter)	CA398592848	HGNC:7594	NCBITaxon:9606	Homo sapiens
CLINVAR:6950	biolink:SequenceVariant	NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)	CA254013	HGNC:7594	NCBITaxon:9606	Homo sapiens
CA401368920	biolink:SequenceVariant	NM_001079804.3:c.1670T>G	CA401368920	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795287	biolink:SequenceVariant	NM_001079804.3:c.2380del	CA658795287	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370277	biolink:SequenceVariant	NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	CA16041861	HGNC:92	NCBITaxon:9606	Homo sapiens
CA1244303	biolink:SequenceVariant	NM_000261.2:c.271C>T	CA1244303	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726016	biolink:SequenceVariant	NM_000261.2:c.814C>G	CA343726016	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7952	biolink:SequenceVariant	NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg)	CA119176	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1139532728	biolink:SequenceVariant	NM_000261.2:c.1187_1189dup	CA1139532728	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244053	biolink:SequenceVariant	NM_000261.2:c.1264C>T	CA1244053	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244052	biolink:SequenceVariant	NM_000261.2:c.1265G>A	CA1244052	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7954	biolink:SequenceVariant	NM_000261.2(MYOC):c.1267A>G (p.Lys423Glu)	CA119178	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724072	biolink:SequenceVariant	NM_000261.2:c.1276G>T	CA343724072	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244050	biolink:SequenceVariant	NM_000261.2:c.1279G>A	CA1244050	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7956	biolink:SequenceVariant	NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)	CA119181	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244034	biolink:SequenceVariant	NM_000261.2:c.1356del	CA1244034	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:30205	biolink:SequenceVariant	NM_000261.2(MYOC):c.1430T>A (p.Ile477Asn)	CA129023	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7950	biolink:SequenceVariant	NM_000261.2(MYOC):c.1430T>G (p.Ile477Ser)	CA119174	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7951	biolink:SequenceVariant	NM_000261.2(MYOC):c.1440C>A (p.Asn480Lys)	CA119175	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723150	biolink:SequenceVariant	NM_000261.2:c.1440C>G	CA343723150	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244022	biolink:SequenceVariant	NM_000261.2:c.1441C>T	CA1244022	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA16616748	biolink:SequenceVariant	NM_000261.2:c.1441C>A	CA16616748	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723135	biolink:SequenceVariant	NM_000261.2:c.1442C>T	CA343723135	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723138	biolink:SequenceVariant	NM_000261.2:c.1442C>G	CA343723138	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722912	biolink:SequenceVariant	NM_000261.2:c.1483G>A	CA343722912	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722844	biolink:SequenceVariant	NM_000261.2:c.1495A>T	CA343722844	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722837	biolink:SequenceVariant	NM_000261.2:c.1496T>G	CA343722837	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722794	biolink:SequenceVariant	NM_000261.2:c.1504T>C	CA343722794	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:917405	biolink:SequenceVariant	NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro)	CA386952758	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:871739	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1768+1G>A	CA386973444	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1693221	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	CA386971876	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:420102	biolink:SequenceVariant	NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)	CA8815680	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:419722	biolink:SequenceVariant	NM_000152.5(GAA):c.1552-3C>G	CA8815383	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA913184733	biolink:SequenceVariant	NM_001079804.3:c.1602_1605delinsAGG	CA913184733	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1072906	biolink:SequenceVariant	NM_001079804.3:c.1579_1580del	CA627699647	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371305	biolink:SequenceVariant	NM_000152.5(GAA):c.1316T>A (p.Met439Lys)	CA8815258	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:403712	biolink:SequenceVariant	NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)	CA8815163	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795264	biolink:SequenceVariant	NM_001079804.3:c.1705dup	CA658795264	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:934787	biolink:SequenceVariant	NM_000018.4:c.632_633del	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:102819	biolink:SequenceVariant	NM_000277.2(PAH):c.743T>C (p.Leu248Pro)	CA229737	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:280984	biolink:SequenceVariant	NM_000277.3(PAH):c.1003A>G (p.Lys335Glu)	CA10603769	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386954977	biolink:SequenceVariant	NM_001306179.2:c.326+1G>C	CA386954977	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338520	biolink:SequenceVariant	NM_001306179.2:c.326+1G>T	CA386954959	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386954965	biolink:SequenceVariant	NM_001306179.2:c.326+1G>A	CA386954965	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447491	biolink:SequenceVariant	NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter)	CA386960529	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:447496	biolink:SequenceVariant	NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)	CA386964424	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:102529	biolink:SequenceVariant	NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)	CA229351	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020900	biolink:SequenceVariant	NM_001354304.2:c.933del	CA16020900	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102906	biolink:SequenceVariant	NM_000277.3(PAH):c.941del (p.Pro314fs)	CA229866	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102465	biolink:SequenceVariant	NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)	CA229264	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102470	biolink:SequenceVariant	NM_000277.3(PAH):c.1021A>T (p.Lys341Ter)	CA229272	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1691455	biolink:SequenceVariant	NM_000419.5:c.2095-19T>A	CA915940312	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA16020935	biolink:SequenceVariant	NM_001354304.2:c.1078G>T	CA16020935	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1691466	biolink:SequenceVariant	NM_000419.5:c.1259T>C	CA399803733	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399792054	biolink:SequenceVariant	NM_000419.5:c.2770C>T	CA399792054	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA16020923	biolink:SequenceVariant	NM_001354304.2:c.1057del	CA16020923	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102762	biolink:SequenceVariant	NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)	CA229660	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA399806022	biolink:SequenceVariant	NM_000419.5:c.423G>T	CA399806022	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA16020898	biolink:SequenceVariant	NM_001354304.2:c.920G>A	CA16020898	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA915940332	biolink:SequenceVariant	NM_000419.5:c.2902del	CA915940332	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399794330	biolink:SequenceVariant	NM_000419.5:c.2578C>T	CA399794330	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400029054	biolink:SequenceVariant	NM_000212.3:c.1388G>C	CA400029054	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940323	biolink:SequenceVariant	NM_000419.5:c.3092del	CA915940323	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1691489	biolink:SequenceVariant	NM_000419.5:c.*165T>C	CA915940530	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1691456	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.408+11C>A	CA915940333	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940701	biolink:SequenceVariant	NM_000212.3:c.2014+5G>A	CA915940701	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399795907	biolink:SequenceVariant	NM_000419.5:c.2437C>A	CA399795907	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1691459	biolink:SequenceVariant	NM_000212.3:c.989T>A	CA400025722	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA626684863	biolink:SequenceVariant	NM_000212.3:c.1406dup	CA626684863	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400032596	biolink:SequenceVariant	NM_000212.3:c.1814G>A	CA400032596	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940324	biolink:SequenceVariant	NM_000419.5:c.2326_2331dup	CA915940324	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399804780	biolink:SequenceVariant	NM_000419.5:c.957T>A	CA399804780	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940690	biolink:SequenceVariant	NM_000212.3:c.2217del	CA915940690	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1691465	biolink:SequenceVariant	NM_000419.5:c.1139G>T	CA399804402	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940689	biolink:SequenceVariant	NM_000212.3:c.674del	CA915940689	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940686	biolink:SequenceVariant	NM_000419.5:c.2338del	CA915940686	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940685	biolink:SequenceVariant	NM_000419.5:c.1919_1920del	CA915940685	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400032481	biolink:SequenceVariant	NM_000212.3:c.1757G>T	CA400032481	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA500261104	biolink:SequenceVariant	NM_000419.5:c.3060G>A	CA500261104	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627290	biolink:SequenceVariant	NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln)	CA8622904	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400028389	biolink:SequenceVariant	NM_000212.3:c.59T>C	CA400028389	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:812734	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.998+1G>C	CA399804688	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940687	biolink:SequenceVariant	NM_000419.5:c.2673_2674dup	CA915940687	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400034691	biolink:SequenceVariant	NM_000212.3:c.2315T>C	CA400034691	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:850885	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1640G>A (p.Cys547Tyr)	CA400030162	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400030171	biolink:SequenceVariant	NM_000212.3:c.1641C>G	CA400030171	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399799004	biolink:SequenceVariant	NM_000419.5:c.2150T>C	CA399799004	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA500624244	biolink:SequenceVariant	NM_000419.5:c.408G>C	CA500624244	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:626980	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1210+105A>G	CA290953790	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940605	biolink:SequenceVariant	NM_000212.3:c.2031_2041del	CA915940605	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1691480	biolink:SequenceVariant	NM_000419.5:c.2264G>C	CA8602772	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:430539	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.89G>A (p.Trp30Ter)	CA399806969	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1691490	biolink:SequenceVariant	NM_000419.5:c.188G>A	CA8603528	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA626224378	biolink:SequenceVariant	NM_000419.5:c.224del	CA626224378	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940808	biolink:SequenceVariant	NM_000212.3:c.1192del	CA915940808	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1691482	biolink:SequenceVariant	NM_000212.3:c.422A>G	CA400021881	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400021843	biolink:SequenceVariant	NM_000212.3:c.415G>C	CA400021843	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:102737	biolink:SequenceVariant	NM_000277.3(PAH):c.561G>C (p.Trp187Cys)	CA229626	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA2573051040	biolink:SequenceVariant	NM_001306179.2:c.1740del	CA2573051040	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573130154	biolink:SequenceVariant	NM_001306179.2:c.380_382del	CA2573130154	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1013621	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs)	CA913189275	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988835	biolink:SequenceVariant	NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter)	CA410203506	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:812739	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508+1G>A	CA410202463	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA386959501	biolink:SequenceVariant	NM_001306179.2:c.397G>A	CA386959501	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959510	biolink:SequenceVariant	NM_001306179.2:c.397G>T	CA386959510	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051300	biolink:SequenceVariant	NM_001306179.2:c.399_405del	CA2573051300	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:143485	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs)	CA273848	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143345	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)	CA232898	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:11835	biolink:SequenceVariant	NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)	CA198822	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:11809	biolink:SequenceVariant	NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	CA211250	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:156657	biolink:SequenceVariant	NM_001110792.2:c.6CGC[4]	-	HGNC:6990	NCBITaxon:9606	Homo sapiens
CA915940209	biolink:SequenceVariant	NM_000277.3:c.843-13_843-10del	CA915940209	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102537	biolink:SequenceVariant	NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)	CA229361	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020907	biolink:SequenceVariant	NM_001354304.2:c.969+6T>C	CA16020907	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102920	biolink:SequenceVariant	NM_000277.3(PAH):c.970-6T>G	CA229884	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020796	biolink:SequenceVariant	NM_001354304.2:c.456_463dup	CA16020796	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020744	biolink:SequenceVariant	NM_000277.1:c.196G>A	CA16020744	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:371373	biolink:SequenceVariant	NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)	CA16020801	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16021007	biolink:SequenceVariant	NM_000277.1:c.197_204del	CA16021007	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102615	biolink:SequenceVariant	NM_000277.2(PAH):c.175G>T (p.Asp59Tyr)	CA229466	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102622	biolink:SequenceVariant	NM_000277.2(PAH):c.193A>G (p.Ile65Val)	CA229478	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386965978	biolink:SequenceVariant	NM_001306179.2:c.761T>A	CA386965978	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386971639	biolink:SequenceVariant	NM_001306179.2:c.1521C>A	CA386971639	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:189082	biolink:SequenceVariant	NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	CA274356	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401363493	biolink:SequenceVariant	NM_001079804.3:c.796C>A	CA401363493	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:556117	biolink:SequenceVariant	NM_000152.5(GAA):c.796C>T (p.Pro266Ser)	CA401363495	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401325305	biolink:SequenceVariant	NM_001079804.3:c.2456G>C	CA401325305	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:988811	biolink:SequenceVariant	NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala)	CA410207987	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1396349	biolink:SequenceVariant	NM_001754.5(RUNX1):c.110G>T (p.Ser37Ile)	CA10014591	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:9647	biolink:SequenceVariant	NC_012920.1:m.9185T>C	CA340928	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9644	biolink:SequenceVariant	NC_012920.1:m.9176T>C	CA120597	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:425040	biolink:SequenceVariant	NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu)	CA16621657	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:207248	biolink:SequenceVariant	NM_001042537.1(SLC9A6):c.526-9_526-5del	CA318538	HGNC:11079	NCBITaxon:9606	Homo sapiens
CLINVAR:236302	biolink:SequenceVariant	NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)	CA10581615	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:167092	biolink:SequenceVariant	NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)	CA234034	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:160079	biolink:SequenceVariant	NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)	CA272702	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:9646	biolink:SequenceVariant	NC_012920.1:m.9205_9206del	CA120599	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:65921	biolink:SequenceVariant	m.3376G>A	CA345259	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:986501	biolink:SequenceVariant	NC_012920.1:m.13379A>C	CA414817724	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:217366	biolink:SequenceVariant	NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr)	CA279176	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:217365	biolink:SequenceVariant	NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del)	CA279164	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:160214	biolink:SequenceVariant	NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)	CA333543	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:156677	biolink:SequenceVariant	NM_130839.5(UBE3A):c.199A>G (p.Ile67Val)	CA294734	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:156120	biolink:SequenceVariant	NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg)	CA333406	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:1693553	biolink:SequenceVariant	NC_012920.1:m.13379A>G	CA414817725	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:143738	biolink:SequenceVariant	NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)	CA270574	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:156124	biolink:SequenceVariant	NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile)	CA173814	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:191364	biolink:SequenceVariant	NC_012920.1:m.8969G>A	CA199769	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:1066009	biolink:SequenceVariant	NM_001754.5(RUNX1):c.813del (p.Arg271fs)	CA2499225873	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:155881	biolink:SequenceVariant	NC_012920.1:m.3890G>A	CA345911	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:9698	biolink:SequenceVariant	m.12706T>C	CA120628	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:9691	biolink:SequenceVariant	m.14495A>G	CA340933	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:65515	biolink:SequenceVariant	m.14568C>T	CA344825	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9732	biolink:SequenceVariant	m.4171C>A	CA340948	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:155889	biolink:SequenceVariant	NC_012920.1:m.13514A>G	CA345918	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:9693	biolink:SequenceVariant	m.14482C>A	CA340934	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9711	biolink:SequenceVariant	m.11777C>A	CA120636	HGNC:7459	NCBITaxon:9606	Homo sapiens
CLINVAR:9685	biolink:SequenceVariant	m.14849T>C	CA120623	HGNC:7427	NCBITaxon:9606	Homo sapiens
CLINVAR:9692	biolink:SequenceVariant	m.14453G>A	CA254853	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9548	biolink:SequenceVariant	m.1606G>A	CA120536	HGNC:7500	NCBITaxon:9606	Homo sapiens
CLINVAR:9576	biolink:SequenceVariant	m.616T>C	CA120552	HGNC:7481	NCBITaxon:9606	Homo sapiens
CLINVAR:9731	biolink:SequenceVariant	NC_012920.1:m.3902_3908inv	CA082749	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:9703	biolink:SequenceVariant	m.13042G>A	CA120633	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:690280	biolink:SequenceVariant	NC_012920.1(MT-ATP6):m.9035T>C	CA414801955	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9708	biolink:SequenceVariant	NC_012920.1:m.11778G>A	CA340939	HGNC:7459	NCBITaxon:9606	Homo sapiens
CLINVAR:9640	biolink:SequenceVariant	m.8528T>C	CA120595	HGNC:7415	NCBITaxon:9606	Homo sapiens
CLINVAR:988857	biolink:SequenceVariant	NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser)	CA410202687	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:226334	biolink:SequenceVariant	NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	CA10576288	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251456	biolink:SequenceVariant	NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)	CA10585134	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251457	biolink:SequenceVariant	NM_000527.5(LDLR):c.797A>G (p.Asp266Gly)	CA10585136	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251458	biolink:SequenceVariant	NM_000527.5(LDLR):c.797A>T (p.Asp266Val)	CA10585137	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251488	biolink:SequenceVariant	NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	CA029904	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183101	biolink:SequenceVariant	NM_000527.5(LDLR):c.908G>A (p.Arg303Gln)	CA023789	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251903	biolink:SequenceVariant	NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr)	CA10585508	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:496019	biolink:SequenceVariant	NM_000527.5(LDLR):c.1577C>A (p.Pro526His)	CA404086609	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251904	biolink:SequenceVariant	NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg)	CA10585509	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431531	biolink:SequenceVariant	NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)	CA404086610	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3686	biolink:SequenceVariant	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	CA023715	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226329	biolink:SequenceVariant	NM_000527.5:c.651TGG[1]	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251356	biolink:SequenceVariant	NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)	CA10585046	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183092	biolink:SequenceVariant	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	CA023739	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161286	biolink:SequenceVariant	NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)	CA023654	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:586794	biolink:SequenceVariant	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	CA386964506	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959579	biolink:SequenceVariant	NM_001306179.2:c.403G>A	CA386959579	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2497030023	biolink:SequenceVariant	NM_001306179.2:c.404del	CA2497030023	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1315998	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)	CA386940977	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051042	biolink:SequenceVariant	NM_022895.3:c.*3072del	CA2573051042	HGNC:25719	NCBITaxon:9606	Homo sapiens
CLINVAR:14931	biolink:SequenceVariant	NM_000545.6(HNF1A):c.815G>A (p.Arg272His)	CA124460	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:627101	biolink:SequenceVariant	NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter)	CA410207192	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:258182	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1044C>T (p.His348=)	CA10014215	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1130934	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1194C>T (p.Ala398=)	CA512341235	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561235	biolink:SequenceVariant	NM_001754.5(RUNX1):c.339del (p.Ile114fs)	CA658824421	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1194557	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter)	CA410147696	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:755769	biolink:SequenceVariant	NM_001754.5(RUNX1):c.735C>A (p.Pro245=)	CA512318599	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:579565	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1268G>C (p.Arg423Pro)	CA410147569	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1488717	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1264G>T (p.Glu422Ter)	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1073521	biolink:SequenceVariant	NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs)	CA2499225882	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:943551	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+2T>A	CA410203328	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561225	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter)	CA410147687	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1459069	biolink:SequenceVariant	NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter)	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:666187	biolink:SequenceVariant	NM_001754.5(RUNX1):c.685G>A (p.Glu229Lys)	CA410206900	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532666	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1300A>G (p.Asn434Asp)	CA410147457	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:660838	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1037G>A (p.Arg346His)	CA410148456	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:843935	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1397T>C (p.Met466Thr)	CA410146847	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:861043	biolink:SequenceVariant	NM_001754.5(RUNX1):c.367G>A (p.Asp123Asn)	CA10014525	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:898729	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3028T>C	CA1139666830	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:747644	biolink:SequenceVariant	NM_001754.5(RUNX1):c.717C>T (p.Ser239=)	CA512318611	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1069299	biolink:SequenceVariant	NM_001754.5(RUNX1):c.140_150del (p.Leu47fs)	CA2499225885	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1076589	biolink:SequenceVariant	NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs)	CA2499225884	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1124345	biolink:SequenceVariant	NM_001754.5(RUNX1):c.735C>G (p.Pro245=)	CA512318600	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:239058	biolink:SequenceVariant	NM_001754.5(RUNX1):c.938T>G (p.Leu313Arg)	CA10014265	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1099856	biolink:SequenceVariant	NM_001754.5(RUNX1):c.670C>A (p.Arg224=)	CA512318662	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1142684	biolink:SequenceVariant	NM_001754.5(RUNX1):c.447A>C (p.Ala149=)	CA512318720	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1088939	biolink:SequenceVariant	NM_001754.5(RUNX1):c.798G>A (p.Gln266=)	CA512318555	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1144056	biolink:SequenceVariant	NM_001754.5(RUNX1):c.822A>G (p.Gln274=)	CA512232284	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:761366	biolink:SequenceVariant	NM_001754.5(RUNX1):c.354G>C (p.Val118=)	CA512318800	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1165599	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1062C>G (p.Thr354=)	CA10014213	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:812740	biolink:SequenceVariant	NM_001754.5(RUNX1):c.320G>A (p.Arg107His)	CA410203483	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532661	biolink:SequenceVariant	NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu)	CA410208238	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1013620	biolink:SequenceVariant	NM_001754.5(RUNX1):c.588del (p.Val197fs)	CA2387284481	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:580539	biolink:SequenceVariant	NM_001754.4(RUNX1):c.1109C>T (p.Ala370Val)	CA410148093	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:941820	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1219T>C (p.Tyr407His)	CA410147752	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1000131	biolink:SequenceVariant	NM_001754.5(RUNX1):c.952T>C (p.Ser318Pro)	CA320255462	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532685	biolink:SequenceVariant	NM_001754.4(RUNX1):c.579C>T (p.Ile193=)	CA320617998	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464000	biolink:SequenceVariant	NM_001754.4(RUNX1):c.630A>G (p.Leu210=)	CA10014389	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1142095	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1015C>T (p.Leu339=)	CA512341371	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463976	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1082C>G (p.Thr361Ser)	CA410148192	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:706138	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-9C>T	CA320603743	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1012038	biolink:SequenceVariant	NM_001754.5(RUNX1):c.322T>A (p.Cys108Ser)	CA410203468	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1116571	biolink:SequenceVariant	NM_001754.5(RUNX1):c.270G>A (p.Val90=)	CA512318868	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1135117	biolink:SequenceVariant	NM_001754.5(RUNX1):c.189C>G (p.Ala63=)	CA512318936	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:627081	biolink:SequenceVariant	NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter)	CA410202477	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:4468	biolink:SequenceVariant	NM_177438.2(DICER1):c.4748T>G (p.Leu1583Arg)	CA212568	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:690480	biolink:SequenceVariant	NM_030621.4(DICER1):c.5125G>A (p.Asp1709Asn)	CA390865395	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:412119	biolink:SequenceVariant	NM_030621.4(DICER1):c.5441C>T (p.Ser1814Leu)	CA16614268	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254350	biolink:SequenceVariant	NM_177438.2(DICER1):c.5465A>T (p.Asp1822Val)	CA10586400	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:690454	biolink:SequenceVariant	NM_030621.4(DICER1):c.5138A>T (p.Asp1713Val)	CA390865363	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254344	biolink:SequenceVariant	NM_177438.2(DICER1):c.5104C>T (p.Gln1702Ter)	CA10586407	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254287	biolink:SequenceVariant	NM_177438.2(DICER1):c.1408G>T (p.Glu470Ter)	CA10586458	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:429113	biolink:SequenceVariant	NM_177438.2(DICER1):c.3019C>T (p.Gln1007Ter)	CA390878423	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254298	biolink:SequenceVariant	NM_030621.4(DICER1):c.1880_1883del (p.Ile627fs)	CA10586449	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254355	biolink:SequenceVariant	NM_030621.4(DICER1):c.878_881del (p.Arg293fs)	CA10586464	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254310	biolink:SequenceVariant	NM_177438.2(DICER1):c.2650+1G>T	CA10586440	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:429148	biolink:SequenceVariant	NM_030621.4(DICER1):c.1907+1G>A	CA390883876	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:429116	biolink:SequenceVariant	NM_177438.2(DICER1):c.2988-1G>T	CA390878663	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:477261	biolink:SequenceVariant	NM_001195573.1(DICER1):c.5365-142del	CA658656432	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:436614	biolink:SequenceVariant	NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg)	CA10014385	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:627384	biolink:SequenceVariant	NM_001754.4(RUNX1):c.784C>T (p.Gln262Ter)	CA410206696	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:575111	biolink:SequenceVariant	NM_001754.4(RUNX1):c.488T>G (p.Phe163Cys)	CA410202504	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202503	biolink:SequenceVariant	NM_001122607.2:c.408T>A	CA410202503	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464008	biolink:SequenceVariant	NM_001754.4(RUNX1):c.787C>T (p.Pro263Ser)	CA10014358	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:574330	biolink:SequenceVariant	NM_001754.4(RUNX1):c.650G>C (p.Gly217Ala)	CA410207042	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:580203	biolink:SequenceVariant	NM_177438.2(DICER1):c.5096-12G>A	CA891843814	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:650411	biolink:SequenceVariant	NM_001754.4(RUNX1):c.1184C>T (p.Pro395Leu)	CA410147836	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:566588	biolink:SequenceVariant	NM_177438.3(DICER1):c.1719AGA[1] (p.Glu574del)	CA891844309	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:649946	biolink:SequenceVariant	NM_177438.3(DICER1):c.238G>T (p.Glu80Ter)	CA390889868	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:392183	biolink:SequenceVariant	NM_001754.4(RUNX1):c.1184C>G (p.Pro395Arg)	CA16609060	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:242130	biolink:SequenceVariant	NM_177438.2(DICER1):c.5107C>T (p.Arg1703Cys)	CA10583187	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:947388	biolink:SequenceVariant	NM_177438.3(DICER1):c.5563C>T (p.Arg1855Ter)	CA390864253	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:412120	biolink:SequenceVariant	NM_177438.2(DICER1):c.4024C>T (p.Arg1342Cys)	CA16614508	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:242076	biolink:SequenceVariant	NM_177438.2(DICER1):c.2T>C (p.Met1Thr)	CA10583232	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:477260	biolink:SequenceVariant	NM_177438.3(DICER1):c.5422A>G (p.Met1808Val)	CA390864692	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:690445	biolink:SequenceVariant	NM_030621.4(DICER1):c.2642T>C (p.Leu881Pro)	CA390881127	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:133202	biolink:SequenceVariant	NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	CA024778	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:478159	biolink:SequenceVariant	NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)	CA056681	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133174	biolink:SequenceVariant	NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	CA024662	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65981	biolink:SequenceVariant	NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133028	biolink:SequenceVariant	NM_000540.3(RYR1):c.1201C>G (p.Arg401Gly)	CA023955	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133012	biolink:SequenceVariant	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	CA023909	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133098	biolink:SequenceVariant	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133074	biolink:SequenceVariant	NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val)	CA024163	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133072	biolink:SequenceVariant	NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr)	CA024158	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12978	biolink:SequenceVariant	NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	CA024154	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133240	biolink:SequenceVariant	NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)	CA024976	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65980	biolink:SequenceVariant	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	CA024781	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65979	biolink:SequenceVariant	NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	CA024770	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12966	biolink:SequenceVariant	NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	CA024750	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12970	biolink:SequenceVariant	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	CA024747	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133189	biolink:SequenceVariant	NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala)	CA024718	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133183	biolink:SequenceVariant	NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	CA024693	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133180	biolink:SequenceVariant	NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12965	biolink:SequenceVariant	NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)	CA024797	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:198090	biolink:SequenceVariant	NM_000540.2(RYR1):c.526G>A (p.Glu176Lys)	CA024501	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:448981	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1077+1G>A	CA287437693	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932849	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)	CA1139665146	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932850	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)	CA774743623	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:840694	biolink:SequenceVariant	NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)	CA397722868	HGNC:92	NCBITaxon:9606	Homo sapiens
CA397723954	biolink:SequenceVariant	NM_000018.4:c.910G>A	CA397723954	HGNC:92	NCBITaxon:9606	Homo sapiens
CA1139768925	biolink:SequenceVariant	NM_001354304.2:c.1176dup	CA1139768925	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020958	biolink:SequenceVariant	NM_001354304.2:c.1177_1178insT	CA16020958	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102522	biolink:SequenceVariant	NM_000277.3(PAH):c.1099dup (p.Leu367fs)	CA229342	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102524	biolink:SequenceVariant	NM_000277.3(PAH):c.1099del (p.Leu367fs)	CA229343	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102548	biolink:SequenceVariant	NM_000277.1(PAH):c.1184C>A (p.Ala395Asp)	CA229374	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386304006	biolink:SequenceVariant	NM_001354304.2:c.311C>T	CA386304006	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020928	biolink:SequenceVariant	NM_000277.1:c.1066-3C>G	CA16020928	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102855	biolink:SequenceVariant	NM_000277.3(PAH):c.824C>T (p.Pro275Leu)	CA229793	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386493446	biolink:SequenceVariant	NM_001354304.2:c.1016C>T	CA386493446	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386493436	biolink:SequenceVariant	NM_001354304.2:c.1023G>C	CA386493436	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:164401	biolink:SequenceVariant	NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	CA014751	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43098	biolink:SequenceVariant	NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	CA016662	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:177627	biolink:SequenceVariant	NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)	CA011642	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181267	biolink:SequenceVariant	NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)	CA015373	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42834	biolink:SequenceVariant	NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg)	CA010465	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:228918	biolink:SequenceVariant	NM_000257.4(MYH7):c.677C>T (p.Ala226Val)	CA10576963	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181349	biolink:SequenceVariant	NM_000257.4(MYH7):c.1477A>G (p.Met493Val)	CA010805	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:42912	biolink:SequenceVariant	NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn)	CA012535	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181202	biolink:SequenceVariant	NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys)	CA012894	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:164351	biolink:SequenceVariant	NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln)	CA011527	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43110	biolink:SequenceVariant	NM_000257.4(MYH7):c.872C>T (p.Ser291Phe)	CA016918	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:181324	biolink:SequenceVariant	NM_000257.4(MYH7):c.758G>T (p.Gly253Val)	CA016808	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:264607	biolink:SequenceVariant	NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)	CA10587778	HGNC:7577	NCBITaxon:9606	Homo sapiens
CLINVAR:43196	biolink:SequenceVariant	NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)	CA278647	HGNC:7606	NCBITaxon:9606	Homo sapiens
CA1563057	biolink:SequenceVariant	NM_194323.3:c.2447G>A	CA1563057	HGNC:8515	NCBITaxon:9606	Homo sapiens
CA386964305	biolink:SequenceVariant	NM_001306179.2:c.613A>C	CA386964305	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964398	biolink:SequenceVariant	NM_001306179.2:c.618G>C	CA386964398	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964418	biolink:SequenceVariant	NM_001306179.2:c.619G>T	CA386964418	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964769	biolink:SequenceVariant	NM_001306179.2:c.650C>G	CA386964769	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965156	biolink:SequenceVariant	NM_001306179.2:c.683A>G	CA386965156	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA6831794	biolink:SequenceVariant	NM_001306179.2:c.682G>A	CA6831794	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386967815	biolink:SequenceVariant	NM_001306179.2:c.956-2A>G	CA386967815	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36833	biolink:SequenceVariant	NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg)	CA214336	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386958691	biolink:SequenceVariant	NM_001306179.2:c.327-1G>A	CA386958691	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386972011	biolink:SequenceVariant	NM_001306179.2:c.1576G>T	CA386972011	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:203585	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	CA312275	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:371449	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	CA16041870	HGNC:92	NCBITaxon:9606	Homo sapiens
CA397722455	biolink:SequenceVariant	NM_000018.4:c.265C>T	CA397722455	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:21025	biolink:SequenceVariant	NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	CA285294	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:92275	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)	CA220196	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:440555	biolink:SequenceVariant	NM_000527.5(LDLR):c.269A>C (p.Asp90Ala)	CA404075695	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251105	biolink:SequenceVariant	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	CA042604	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251699	biolink:SequenceVariant	NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)	CA032391	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3695	biolink:SequenceVariant	NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	CA023445	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36454	biolink:SequenceVariant	NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)	CA023446	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:162499	biolink:SequenceVariant	NM_000527.5(LDLR):c.1359-1G>A	CA023463	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226363	biolink:SequenceVariant	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	CA035437	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251938	biolink:SequenceVariant	NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser)	CA10585529	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251085	biolink:SequenceVariant	NM_000527.5(LDLR):c.233G>A (p.Arg78His)	CA042534	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251436	biolink:SequenceVariant	NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)	CA10585116	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:375806	biolink:SequenceVariant	NM_000527.5(LDLR):c.967G>T (p.Gly323Cys)	CA16602321	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:373769	biolink:SequenceVariant	NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg)	CA036598	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252302	biolink:SequenceVariant	NM_000527.5(LDLR):c.2389+2T>G	CA10585839	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250954	biolink:SequenceVariant	NM_000527.4(LDLR):c.-136C>G	CA10584708	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250980	biolink:SequenceVariant	NM_000527.5(LDLR):c.44T>A (p.Leu15His)	CA10584731	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250981	biolink:SequenceVariant	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	CA10584732	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251926	biolink:SequenceVariant	NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)	CA035378	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252330	biolink:SequenceVariant	NM_000527.5(LDLR):c.2416dup (p.Val806fs)	CA040715	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA1244346	biolink:SequenceVariant	NM_000261.2:c.20G>A	CA1244346	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343720163	biolink:SequenceVariant	NM_000261.2:c.24C>A	CA343720163	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343720077	biolink:SequenceVariant	NM_000261.2:c.38C>T	CA343720077	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343720226	biolink:SequenceVariant	NM_000261.2:c.11T>C	CA343720226	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343720151	biolink:SequenceVariant	NM_000261.2:c.26G>C	CA343720151	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421938891	biolink:SequenceVariant	NM_000261.2:c.141C>T	CA421938891	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421939550	biolink:SequenceVariant	NM_000261.2:c.372G>C	CA421939550	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421939469	biolink:SequenceVariant	NM_000261.2:c.402A>G	CA421939469	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244262	biolink:SequenceVariant	NM_000261.2:c.526del	CA1244262	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343717998	biolink:SequenceVariant	NM_000261.2:c.539T>A	CA343717998	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726928	biolink:SequenceVariant	NM_000261.2:c.713G>A	CA343726928	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244332	biolink:SequenceVariant	NM_000261.2:c.73T>C	CA1244332	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244294	biolink:SequenceVariant	NM_000261.2:c.343G>A	CA1244294	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244266	biolink:SequenceVariant	NM_000261.2:c.504G>A	CA1244266	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:9712	biolink:SequenceVariant	m.10191T>C	CA120637	HGNC:7458	NCBITaxon:9606	Homo sapiens
CLINVAR:986458	biolink:SequenceVariant	NC_012920.1:m.3280A>G	CA658682658	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:693516	biolink:SequenceVariant	NC_012920.1:m.13094T>C	CA414816540	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:9715	biolink:SequenceVariant	m.10197G>A	CA120640	HGNC:7458	NCBITaxon:9606	Homo sapiens
CLINVAR:65518	biolink:SequenceVariant	m.3635G>A	CA344827	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:986454	biolink:SequenceVariant	NC_012920.1:m.3258T>C	CA913169025	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:11505	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)	CA121527	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:929426	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)	CA412489564	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:489299	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	CA412369187	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:432427	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys)	CA412350143	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:643438	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)	CA915950778	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:487576	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)	CA412489863	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:143749	biolink:SequenceVariant	NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	CA199325	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:156615	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)	CA294622	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143754	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)	CA270591	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:133026	biolink:SequenceVariant	NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu)	CA023951	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:650932	biolink:SequenceVariant	NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)	CA405662842	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65996	biolink:SequenceVariant	NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	CA024104	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:803557	biolink:SequenceVariant	NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)	CA060644	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133027	biolink:SequenceVariant	NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)	CA023953	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:590582	biolink:SequenceVariant	NM_000540.2(RYR1):c.7123G>A (p.Gly2375Arg)	CA405668242	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:803555	biolink:SequenceVariant	NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)	CA405643726	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133203	biolink:SequenceVariant	NM_000540.2(RYR1):c.742G>C (p.Gly248Arg)	CA024799	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:803556	biolink:SequenceVariant	NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)	CA405678835	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:938242	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1409del (p.Leu470fs)	CA1139665152	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:4021	biolink:SequenceVariant	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	CA116590	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:456391	biolink:SequenceVariant	NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)	CA658658713	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:286469	biolink:SequenceVariant	NM_000152.5(GAA):c.1841C>T (p.Thr614Met)	CA8815496	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371226	biolink:SequenceVariant	NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)	CA16041897	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795267	biolink:SequenceVariant	NM_001079804.3:c.1848dup	CA658795267	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188786	biolink:SequenceVariant	NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)	CA273955	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:935199	biolink:SequenceVariant	NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)	CA401369553	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:392862	biolink:SequenceVariant	NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)	CA16607903	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:432217	biolink:SequenceVariant	NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)	CA8815303	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:552527	biolink:SequenceVariant	NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)	CA401324918	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:843677	biolink:SequenceVariant	NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)	CA401366487	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:554339	biolink:SequenceVariant	NM_000152.5(GAA):c.2706del (p.Lys903fs)	CA658795297	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:856881	biolink:SequenceVariant	NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)	CA624860664	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1073045	biolink:SequenceVariant	NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:618506	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)	CA913190951	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:846935	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)	CA774734051	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1626	biolink:SequenceVariant	NM_000018.4:c.385GAG[1]	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:422995	biolink:SequenceVariant	NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	CA8337697	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932787	biolink:SequenceVariant	NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)	CA8337704	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:370686	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	CA16041866	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203580	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	CA312265	HGNC:92	NCBITaxon:9606	Homo sapiens
CA397724300	biolink:SequenceVariant	NM_000018.4:c.1077+2T>A	CA397724300	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:166638	biolink:SequenceVariant	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	CA233425	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:557575	biolink:SequenceVariant	NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)	CA287435425	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:370482	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1077+1G>T	CA16041867	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:567061	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1183-7A>G	CA8338033	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203593	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1804_1805CT[1] (p.Leu602_Cys603insTer)	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:581398	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)	CA891844265	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932848	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1039del (p.Ala347fs)	CA1139665145	HGNC:92	NCBITaxon:9606	Homo sapiens
CA8337657	biolink:SequenceVariant	NM_000018.4:c.342+1G>A	CA8337657	HGNC:92	NCBITaxon:9606	Homo sapiens
CA397722888	biolink:SequenceVariant	NM_000018.4:c.430C>G	CA397722888	HGNC:92	NCBITaxon:9606	Homo sapiens
CA397726273	biolink:SequenceVariant	NM_000018.4:c.1966T>A	CA397726273	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:193541	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)	CA200650	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203570	biolink:SequenceVariant	NM_000018.4:c.260T>C	CA312247	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:254700	biolink:SequenceVariant	NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)	CA8337646	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:553583	biolink:SequenceVariant	NM_000018.4(ACADVL):c.192del (p.Lys64fs)	CA8337581	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:216422	biolink:SequenceVariant	NM_000314.7(PTEN):c.422A>C (p.His141Pro)	CA337448	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:419119	biolink:SequenceVariant	NM_000314.7(PTEN):c.*5T>C	CA16619073	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:279878	biolink:SequenceVariant	NM_000314.7(PTEN):c.633C>G (p.Cys211Trp)	CA10603125	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:420491	biolink:SequenceVariant	NM_000314.7(PTEN):c.42G>A (p.Arg14=)	CA16619040	HGNC:9588	NCBITaxon:9606	Homo sapiens
CA346124255	biolink:SequenceVariant	NM_194323.3:c.-27-1G>C	CA346124255	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:370279	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1077+2T>C	CA16041868	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:412802	biolink:SequenceVariant	NM_000314.7(PTEN):c.80-5C>T	CA16612999	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:127676	biolink:SequenceVariant	NM_000314.7(PTEN):c.-834C>T	CA000602	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:127682	biolink:SequenceVariant	NM_000314.4(PTEN):c.-943C>T	CA000644	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:234695	biolink:SequenceVariant	NM_000314.7(PTEN):c.-801G>A	CA10577405	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:468719	biolink:SequenceVariant	NM_000314.7(PTEN):c.838A>G (p.Ile280Val)	CA377485551	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:141717	biolink:SequenceVariant	NM_000314.6(PTEN):c.-930G>A	CA000640	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:404144	biolink:SequenceVariant	NM_000314.7(PTEN):c.253+4G>A	CA16613005	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:140783	biolink:SequenceVariant	NM_001126049.1(KLLN):c.-812G>T	CA163550	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:825730	biolink:SequenceVariant	NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)	CA377484387	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428199	biolink:SequenceVariant	NM_000314.8(PTEN):c.39_41del (p.Arg15del)	CA645369492	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:644390	biolink:SequenceVariant	NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)	CA377781810	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:224542	biolink:SequenceVariant	NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)	CA357805	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:619908	biolink:SequenceVariant	NM_000314.8(PTEN):c.402G>C (p.Met134Ile)	CA377482340	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:484605	biolink:SequenceVariant	NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro)	CA377487108	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:492332	biolink:SequenceVariant	NM_000314.8(PTEN):c.493-7C>T	CA658683577	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:316208	biolink:SequenceVariant	NM_001482.3(GATM):c.*104A>G	CA10642026	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:589915	biolink:SequenceVariant	NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)	CA392254551	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:598112	biolink:SequenceVariant	NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)	CA392254708	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:625953	biolink:SequenceVariant	NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)	CA7542755	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:570204	biolink:SequenceVariant	NM_001482.3(GATM):c.1209del (p.Gly404fs)	CA891843836	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:654184	biolink:SequenceVariant	NM_001482.3(GATM):c.1162A>G (p.Ile388Val)	CA392255072	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:316210	biolink:SequenceVariant	NM_001482.3(GATM):c.1159+14A>G	CA7542781	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:55918	biolink:SequenceVariant	NM_001482.3(GATM):c.1111dup (p.Met371fs)	CA344713	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:205617	biolink:SequenceVariant	NM_001482.3(GATM):c.778C>T (p.Arg260Ter)	CA314876	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:55919	biolink:SequenceVariant	NM_001482.3(GATM):c.505C>T (p.Arg169Ter)	CA263242	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:7302	biolink:SequenceVariant	NM_001482.3(GATM):c.446G>A (p.Trp149Ter)	CA340668	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:55921	biolink:SequenceVariant	NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)	CA263244	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:21299	biolink:SequenceVariant	NM_001482.3(GATM):c.484+1G>T	CA341869	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:572733	biolink:SequenceVariant	NM_001482.3(GATM):c.216G>A (p.Trp72Ter)	CA392265208	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:21065	biolink:SequenceVariant	NM_000156.6(GAMT):c.327G>A (p.Lys109=)	CA314804	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205596	biolink:SequenceVariant	NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)	CA314836	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:544252	biolink:SequenceVariant	NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)	CA402990219	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205595	biolink:SequenceVariant	NM_000156.6(GAMT):c.689C>T (p.Thr230Met)	CA314834	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205594	biolink:SequenceVariant	NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)	CA314832	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:445930	biolink:SequenceVariant	NM_000156.6(GAMT):c.668dup (p.Tyr223Ter)	CA9043535	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205569	biolink:SequenceVariant	NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)	CA314786	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205592	biolink:SequenceVariant	NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)	CA314828	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:577478	biolink:SequenceVariant	NM_000156.6(GAMT):c.623G>A (p.Arg208His)	CA9043553	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:544261	biolink:SequenceVariant	NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)	CA9043556	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205590	biolink:SequenceVariant	NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)	CA314824	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205584	biolink:SequenceVariant	NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)	CA314812	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:431959	biolink:SequenceVariant	NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)	CA9043617	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:495685	biolink:SequenceVariant	NM_000156.6(GAMT):c.491dup (p.Val165fs)	CA9043628	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205581	biolink:SequenceVariant	NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)	CA314807	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:513151	biolink:SequenceVariant	NM_000156.6(GAMT):c.459+9_459+12del	CA9043657	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:225369	biolink:SequenceVariant	NM_000156.6(GAMT):c.419C>A (p.Ser140Ter)	CA402995274	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:664123	biolink:SequenceVariant	NM_000156.6(GAMT):c.391+1G>C	CA402995477	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205580	biolink:SequenceVariant	NM_000156.6(GAMT):c.328G>T (p.Val110Phe)	CA314806	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:566624	biolink:SequenceVariant	NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)	CA402996122	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:8302	biolink:SequenceVariant	NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)	CA340767	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:21066	biolink:SequenceVariant	NM_000156.6(GAMT):c.438A>G (p.Thr146=)	CA341572	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:666596	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)	CA415090890	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:666588	biolink:SequenceVariant	NC_000023.11:g.153694343del	CA915952065	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:392671	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu)	CA16609138	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:533702	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)	CA658799891	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:655315	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)	CA415076044	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:432463	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr)	CA415076058	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:465148	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro)	CA415076119	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:643295	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)	CA415076138	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:650071	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val)	CA10549150	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:572616	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)	CA415076214	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:410221	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp)	CA16616458	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:658337	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu)	CA415076485	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:21448	biolink:SequenceVariant	NM_005629.4:c.318CTT[1]	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:652028	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser)	CA10549199	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:449366	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.568_569TG[1] (p.Ala191fs)	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:635461	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)	CA913190432	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:452407	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.746_747GT[1] (p.Val250fs)	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:416002	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)	CA10549333	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:633583	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.940_944TTCTT[1] (p.Phe315fs)	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:586615	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.946dup (p.Ser316fs)	CA891843979	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:21017	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	CA341519	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:92276	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	CA220197	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:986472	biolink:SequenceVariant	NC_012920.1:m.9155A>G	CA414802316	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9632	biolink:SequenceVariant	NC_012920.1:m.1494C>T	CA254847	HGNC:7470	NCBITaxon:9606	Homo sapiens
CLINVAR:9606	biolink:SequenceVariant	m.4300A>G	CA254842	HGNC:7488	NCBITaxon:9606	Homo sapiens
CLINVAR:689875	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.4308G>A	CA913177679	HGNC:7488	NCBITaxon:9606	Homo sapiens
CLINVAR:9556	biolink:SequenceVariant	m.5521G>A	CA254831	HGNC:7501	NCBITaxon:9606	Homo sapiens
CLINVAR:223247	biolink:SequenceVariant	NC_012920.1:m.3291T>C	CA337096487	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:9707	biolink:SequenceVariant	m.10663T>C	CA340938	HGNC:7460	NCBITaxon:9606	Homo sapiens
CLINVAR:9591	biolink:SequenceVariant	m.3256C>T	CA120561	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:102551	biolink:SequenceVariant	NM_000277.3(PAH):c.1196_1199del (p.Val399fs)	CA229378	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102652	biolink:SequenceVariant	NM_000277.3:c.344_347del	-	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102663	biolink:SequenceVariant	NM_000277.3(PAH):c.398_401del (p.Asn133fs)	CA229531	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020977	biolink:SequenceVariant	NM_001354304.2:c.1242C>A	CA16020977	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102718	biolink:SequenceVariant	NM_000277.3(PAH):c.514C>T (p.Gln172Ter)	CA229600	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102664	biolink:SequenceVariant	NM_000277.3(PAH):c.400C>T (p.Gln134Ter)	CA229534	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386493311	biolink:SequenceVariant	NM_001354304.2:c.1096C>G	CA386493311	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:657348	biolink:SequenceVariant	NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	CA8815234	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:431990	biolink:SequenceVariant	NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	CA8815119	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:92483	biolink:SequenceVariant	NM_000152.3(GAA):c.307T>G (p.Cys103Gly)	CA220404	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:498117	biolink:SequenceVariant	NM_000152.5(GAA):c.868A>G (p.Asn290Asp)	CA8815078	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370130	biolink:SequenceVariant	NM_000152.4(GAA):c.1799G>A (p.Arg600His)	CA8815482	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:933090	biolink:SequenceVariant	NM_177438.3(DICER1):c.5438A>C (p.Glu1813Ala)	CA390864653	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:690461	biolink:SequenceVariant	NM_177438.3(DICER1):c.1509+16A>G	CA658655578	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1722520	biolink:SequenceVariant	NR_172720.1:n.2385+6T>A	CA2573320260	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:479636	biolink:SequenceVariant	NM_177438.3(DICER1):c.1904A>G (p.Asn635Ser)	CA7331374	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:429125	biolink:SequenceVariant	NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly)	CA390864594	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:824918	biolink:SequenceVariant	NM_177438.3(DICER1):c.4478C>T (p.Pro1493Leu)	CA390868197	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1722521	biolink:SequenceVariant	NR_172720.1:n.5042T>C	CA390867498	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1722522	biolink:SequenceVariant	NM_177438.3(DICER1):c.4691A>G (p.Glu1564Gly)	CA390867511	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825925	biolink:SequenceVariant	NM_177438.3(DICER1):c.5729G>A (p.Arg1910Gln)	CA390863032	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:653922	biolink:SequenceVariant	NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg)	CA390863446	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:933126	biolink:SequenceVariant	NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr)	CA390864624	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825934	biolink:SequenceVariant	NM_177438.3(DICER1):c.5744A>G (p.Asn1915Ser)	CA390862947	HGNC:17098	NCBITaxon:9606	Homo sapiens
CA343719476	biolink:SequenceVariant	NM_000261.2:c.164G>C	CA343719476	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343727103	biolink:SequenceVariant	NM_000261.2:c.626C>A	CA343727103	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244333	biolink:SequenceVariant	NM_000261.2:c.56_72dup	CA1244333	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1139770939	biolink:SequenceVariant	NM_000261.2:c.484_486dup	CA1139770939	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA32686006	biolink:SequenceVariant	NM_000261.2:c.897T>C	CA32686006	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244122	biolink:SequenceVariant	NM_000261.2:c.907C>A	CA1244122	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244196	biolink:SequenceVariant	NM_000261.2:c.667C>T	CA1244196	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343718087	biolink:SequenceVariant	NM_000261.2:c.518G>C	CA343718087	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725043	biolink:SequenceVariant	NM_000261.2:c.1025G>A	CA343725043	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724711	biolink:SequenceVariant	NM_000261.2:c.1105T>C	CA343724711	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA32685671	biolink:SequenceVariant	NM_000261.2:c.1179C>G	CA32685671	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:4036	biolink:SequenceVariant	NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	CA116622	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550327	biolink:SequenceVariant	NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)	CA8815554	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:526518	biolink:SequenceVariant	NM_000152.5:c.1320_1322delGAT	-	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:289361	biolink:SequenceVariant	NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)	CA8815476	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA915940949	biolink:SequenceVariant	NM_000138.5:c.4149_4154del	CA915940949	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200100	biolink:SequenceVariant	NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)	CA016924	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA392317923	biolink:SequenceVariant	NM_000138.5:c.4255C>T	CA392317923	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200041	biolink:SequenceVariant	NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)	CA014858	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1325453	biolink:SequenceVariant	NM_000138.5(FBN1):c.7383del (p.Asn2461fs)	CA915940951	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA392325153	biolink:SequenceVariant	NM_000138.5:c.7643T>A	CA392325153	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549232	biolink:SequenceVariant	NM_000138.4(FBN1):c.4459G>A (p.Asp1487Asn)	CA269554323	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA915940948	biolink:SequenceVariant	NM_000138.5:c.2364dup	CA915940948	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:161245	biolink:SequenceVariant	NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	CA016208	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549394	biolink:SequenceVariant	NM_000138.4(FBN1):c.7204+1G>T	CA392329016	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200064	biolink:SequenceVariant	NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)	CA015829	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:143490	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)	CA170257	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143549	biolink:SequenceVariant	NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe)	CA270369	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143550	biolink:SequenceVariant	NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe)	CA270371	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143560	biolink:SequenceVariant	NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu)	CA270390	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143585	biolink:SequenceVariant	NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)	CA274628	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143589	biolink:SequenceVariant	NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu)	CA270435	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143742	biolink:SequenceVariant	NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)	CA270580	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143340	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)	CA270202	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143450	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)	CA280048	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:143656	biolink:SequenceVariant	NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)	CA170355	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:189732	biolink:SequenceVariant	NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)	CA274615	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:189754	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)	CA199485	HGNC:6990	NCBITaxon:9606	Homo sapiens
CA399802454	biolink:SequenceVariant	NM_000419.5:c.1600+1G>A	CA399802454	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940214	biolink:SequenceVariant	NM_000419.5:c.1230del	CA915940214	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1684418	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter)	CA915940608	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940264	biolink:SequenceVariant	NM_000419.5:c.113del	CA915940264	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940225	biolink:SequenceVariant	NM_000419.5:c.1071dup	CA915940225	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940263	biolink:SequenceVariant	NM_000212.3:c.1185del	CA915940263	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400021997	biolink:SequenceVariant	NM_000212.3:c.445T>C	CA400021997	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399805008	biolink:SequenceVariant	NM_000419.5:c.859G>C	CA399805008	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400028386	biolink:SequenceVariant	NM_000212.3:c.59T>G	CA400028386	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8603099	biolink:SequenceVariant	NM_000419.5:c.1424_1427dup	CA8603099	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:13563	biolink:SequenceVariant	ITGB3, 11.2-KB DEL	-	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940805	biolink:SequenceVariant	NM_000212.3:c.161_165+1delinsCTGATT	CA915940805	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940766	biolink:SequenceVariant	NM_000419.5:c.855dup	CA915940766	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940767	biolink:SequenceVariant	NM_000419.5:c.2555del	CA915940767	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399804480	biolink:SequenceVariant	NM_000419.5:c.1096C>T	CA399804480	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940267	biolink:SequenceVariant	NM_000419.5:c.2374del	CA915940267	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399798192	biolink:SequenceVariant	NM_000419.5:c.2255T>G	CA399798192	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399807023	biolink:SequenceVariant	NM_000419.5:c.59T>G	CA399807023	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA291225782	biolink:SequenceVariant	NM_000212.3:c.1639T>G	CA291225782	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940325	biolink:SequenceVariant	NM_000419.5:c.310+3_310+6del	CA915940325	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA291224896	biolink:SequenceVariant	NM_000212.3:c.725G>A	CA291224896	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA291227621	biolink:SequenceVariant	NM_000212.3:c.1813G>A	CA291227621	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400031679	biolink:SequenceVariant	NM_000212.3:c.118C>T	CA400031679	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1879040	biolink:SequenceVariant	NM_000419.5:c.3091del	CA915940322	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399806223	biolink:SequenceVariant	NM_000419.5:c.337C>T	CA399806223	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1879046	biolink:SequenceVariant	NM_000419.5:c.1139G>A	CA8603217	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1879048	biolink:SequenceVariant	NM_000419.5:c.2254C>G	CA8602773	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1879039	biolink:SequenceVariant	NM_000212.3:c.92G>A	CA400031593	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399787972	biolink:SequenceVariant	NM_000419.5:c.3061-1G>A	CA399787972	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940334	biolink:SequenceVariant	NM_000419.5:c.1771dup	CA915940334	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940374	biolink:SequenceVariant	NM_000419.5:c.832del	CA915940374	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA290950094	biolink:SequenceVariant	NM_000419.5:c.1563T>A	CA290950094	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627151	biolink:SequenceVariant	NM_000212.2(ITGB3):c.856G>C (p.Gly286Arg)	CA400024919	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8603454	biolink:SequenceVariant	NM_000419.5:c.475G>A	CA8603454	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400029961	biolink:SequenceVariant	NM_000212.3:c.1595G>T	CA400029961	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:977126	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val)	CA399805900	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940788	biolink:SequenceVariant	NM_000419.5:c.1599_1600del	CA915940788	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399807046	biolink:SequenceVariant	NM_000419.5:c.48G>A	CA399807046	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8603212	biolink:SequenceVariant	NM_000419.5:c.1162G>A	CA8603212	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940720	biolink:SequenceVariant	NM_000419.5:c.1211-78A>G	CA915940720	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:977131	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter)	CA400030168	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400031690	biolink:SequenceVariant	NM_000212.3:c.121C>T	CA400031690	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA2573131753	biolink:SequenceVariant	NM_000419.5:c.1999dup	CA2573131753	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400029341	biolink:SequenceVariant	NM_000212.3:c.1451G>T	CA400029341	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399804316	biolink:SequenceVariant	NM_000419.5:c.1184G>T	CA399804316	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA2573131754	biolink:SequenceVariant	NM_000419.5:c.2390del	CA2573131754	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8603039	biolink:SequenceVariant	NM_000419.5:c.1545-1G>A	CA8603039	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400032927	biolink:SequenceVariant	NM_000212.3:c.1955A>T	CA400032927	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940806	biolink:SequenceVariant	NM_000212.3:c.330_336del	CA915940806	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940801	biolink:SequenceVariant	NM_000419.5:c.3061-6C>G	CA915940801	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399791378	biolink:SequenceVariant	NM_000419.5:c.2842-1G>C	CA399791378	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399804787	biolink:SequenceVariant	NM_000419.5:c.953C>T	CA399804787	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:891157	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.560T>C (p.Val187Ala)	CA399805725	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940222	biolink:SequenceVariant	NM_000212.3:c.401del	CA915940222	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8623068	biolink:SequenceVariant	NM_000212.3:c.847_848del	CA8623068	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8602667	biolink:SequenceVariant	NM_000419.5:c.2489T>G	CA8602667	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399802478	biolink:SequenceVariant	NM_000419.5:c.1591C>T	CA399802478	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399794666	biolink:SequenceVariant	NM_000419.5:c.2540T>C	CA399794666	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805465	biolink:SequenceVariant	NM_000419.5:c.666C>A	CA399805465	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805884	biolink:SequenceVariant	NM_000419.5:c.483C>G	CA399805884	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400024958	biolink:SequenceVariant	NM_000212.3:c.863T>C	CA400024958	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399806951	biolink:SequenceVariant	NM_000419.5:c.97A>G	CA399806951	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940223	biolink:SequenceVariant	NM_000419.5:c.1899del	CA915940223	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399792888	biolink:SequenceVariant	NM_000419.5:c.2702C>A	CA399792888	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400028645	biolink:SequenceVariant	NM_000212.3:c.1303G>T	CA400028645	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399802559	biolink:SequenceVariant	NM_000419.5:c.1555C>T	CA399802559	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:100811	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)	CA229004	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400029664	biolink:SequenceVariant	NM_000212.3:c.1525C>T	CA400029664	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622982	biolink:SequenceVariant	NM_000212.3:c.567del	CA8622982	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:225919	biolink:SequenceVariant	NM_001482.3(GATM):c.985C>G (p.Leu329Val)	CA7542807	HGNC:4175	NCBITaxon:9606	Homo sapiens
CA6748745	biolink:SequenceVariant	NM_001354304.2:c.1084C>T	CA6748745	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386299735	biolink:SequenceVariant	NM_001354304.2:c.442-2A>G	CA386299735	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386297078	biolink:SequenceVariant	NM_001354304.2:c.510-1G>C	CA386297078	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386492906	biolink:SequenceVariant	NM_001354304.2:c.1316-1G>C	CA386492906	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020960	biolink:SequenceVariant	NM_001354304.2:c.1199+1G>T	CA16020960	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102564	biolink:SequenceVariant	NM_000277.2(PAH):c.1200-1delG	CA229394	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102653	biolink:SequenceVariant	NM_000277.3(PAH):c.352+1G>A	CA229519	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102574	biolink:SequenceVariant	NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)	CA229409	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA481331323	biolink:SequenceVariant	NM_001354304.2:c.843T>A	CA481331323	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102603	biolink:SequenceVariant	NM_000277.3(PAH):c.163_165del (p.Phe55del)	CA229450	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102730	biolink:SequenceVariant	NM_000277.3(PAH):c.535T>C (p.Tyr179His)	CA229615	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:417917	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	CA16616934	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:854401	biolink:SequenceVariant	NM_000018.4:c.1497CCT[1]	CA8338130	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:474895	biolink:SequenceVariant	NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)	CA397722617	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:971356	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1269+1del	CA1139665149	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:555644	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1269+1G>A	CA8338049	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:661308	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	CA624860703	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1632	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	CA251907	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203592	biolink:SequenceVariant	NM_000018.3(ACADVL):c.1375dup	CA312288	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:839947	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1508del (p.Gly503fs)	CA624860719	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:92290	biolink:SequenceVariant	NM_000018.4(ACADVL):c.753-2A>C	CA220220	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:21016	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	CA220193	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1634	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	CA251910	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:21019	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1679-6G>A	CA312281	HGNC:92	NCBITaxon:9606	Homo sapiens
CA1139532270	biolink:SequenceVariant	NM_001270448.2:c.1573del	CA1139532270	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:166641	biolink:SequenceVariant	NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	CA295584	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:807359	biolink:SequenceVariant	NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	CA397723077	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:370717	biolink:SequenceVariant	NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	CA16041862	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:581080	biolink:SequenceVariant	NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	CA8337802	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:92283	biolink:SequenceVariant	NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)	CA220207	HGNC:92	NCBITaxon:9606	Homo sapiens
CA916084367	biolink:SequenceVariant	NM_001270448.2:c.1378-3_1378-2del	CA916084367	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:370770	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1532+2T>C	CA16041875	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:166646	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1532+1G>A	CA273297	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932835	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1752-3_1755del	CA1139665161	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:557136	biolink:SequenceVariant	NM_000018.4:c.1770_1773del	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:418698	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)	CA16620602	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1075156	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1808del (p.Cys603fs)	CA2499224908	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1622	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1182+1G>A	CA273937	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932851	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)	CA1139665148	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:810875	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)	CA397724566	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:812785	biolink:SequenceVariant	NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)	CA287433650	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203595	biolink:SequenceVariant	NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	CA312291	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932788	biolink:SequenceVariant	NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	CA8337761	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:439361	biolink:SequenceVariant	NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)	CA287437583	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1073505	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1251del (p.Ser418fs)	CA2499224903	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:876022	biolink:SequenceVariant	NM_000261.2(MYOC):c.611C>T (p.Thr204Met)	CA1244214	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244128	biolink:SequenceVariant	NM_000261.2:c.886C>T	CA1244128	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244127	biolink:SequenceVariant	NM_000261.2:c.887G>A	CA1244127	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343718468	biolink:SequenceVariant	NM_000261.2:c.407G>T	CA343718468	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724789	biolink:SequenceVariant	NM_000261.2:c.1081C>T	CA343724789	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1306862	biolink:SequenceVariant	NM_000261.2(MYOC):c.1258A>T (p.Asn420Tyr)	CA1244054	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723649	biolink:SequenceVariant	NM_000261.2:c.1348A>G	CA343723649	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723635	biolink:SequenceVariant	NM_000261.2:c.1349A>G	CA343723635	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723062	biolink:SequenceVariant	NM_000261.2:c.1456C>T	CA343723062	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726243	biolink:SequenceVariant	NM_000261.2:c.761C>G	CA343726243	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1684936	biolink:SequenceVariant	NM_000261.2:c.767C>T	CA1244159	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA32686185	biolink:SequenceVariant	NM_000261.2:c.781G>A	CA32686185	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244138	biolink:SequenceVariant	NM_000261.2:c.854C>T	CA1244138	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421938611	biolink:SequenceVariant	NM_000261.2:c.960G>A	CA421938611	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244109	biolink:SequenceVariant	NM_000261.2:c.974C>T	CA1244109	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724974	biolink:SequenceVariant	NM_000261.2:c.1037G>C	CA343724974	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7957	biolink:SequenceVariant	NM_000261.2(MYOC):c.1196G>T (p.Gly399Val)	CA119182	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244062	biolink:SequenceVariant	NM_000261.2:c.1209C>T	CA1244062	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1073342	biolink:SequenceVariant	NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)	CA774742300	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1628	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	CA251906	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:818026	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	CA624861283	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:936835	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)	CA397724510	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:557078	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1283del (p.Lys428fs)	CA658824843	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:550315	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	CA397725788	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:380058	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1182+17C>A	CA8337984	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:516249	biolink:SequenceVariant	NM_000018.4(ACADVL):c.622+12C>A	CA8337772	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:474901	biolink:SequenceVariant	NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	CA397723393	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203591	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	CA312287	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:595610	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1317dup (p.Met440fs)	CA913190952	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:194317	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	CA274997	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:429730	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	CA624860771	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932833	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)	CA1139665157	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:379145	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	CA16608642	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:4035	biolink:SequenceVariant	NM_000152.5(GAA):c.710C>T (p.Ala237Val)	CA116619	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:972747	biolink:SequenceVariant	NM_001079804.3:c.1781G>A	CA8815477	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:198393	biolink:SequenceVariant	NM_000152.5(GAA):c.1194+3G>C	CA247031	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:930445	biolink:SequenceVariant	NM_000152.5(GAA):c.1194+5G>A	CA658795243	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:495664	biolink:SequenceVariant	NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)	CA294895841	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:550825	biolink:SequenceVariant	NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)	CA401369658	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:283230	biolink:SequenceVariant	NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)	CA8815178	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:557811	biolink:SequenceVariant	NM_000152.5(GAA):c.546+5G>T	CA8814901	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1308288	biolink:SequenceVariant	NM_000152.5(GAA):c.2332-2A>G	CA401324961	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:597944	biolink:SequenceVariant	NM_000152.5(GAA):c.1326+1G>A	CA401365436	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:237861	biolink:SequenceVariant	NM_000527.5(LDLR):c.-188C>T	CA10583771	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251895	biolink:SequenceVariant	NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg)	CA10585500	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252294	biolink:SequenceVariant	NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe)	CA10585833	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252295	biolink:SequenceVariant	NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)	CA040016	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251138	biolink:SequenceVariant	NM_000527.5(LDLR):c.313+6T>C	CA10584845	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251876	biolink:SequenceVariant	NM_000527.5(LDLR):c.1503G>A (p.Ala501=)	CA034586	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251808	biolink:SequenceVariant	NM_000527.5(LDLR):c.1359-5C>G	CA10585422	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226382	biolink:SequenceVariant	NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)	CA10576326	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183129	biolink:SequenceVariant	NM_000527.5(LDLR):c.1954A>G (p.Met652Val)	CA023615	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:927435	biolink:SequenceVariant	NM_000527.5(LDLR):c.1954A>T (p.Met652Leu)	CA404093163	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430743	biolink:SequenceVariant	NM_000527.4(LDLR):c.-97G>A	CA305287338	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252325	biolink:SequenceVariant	NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup)	CA10585855	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252110	biolink:SequenceVariant	NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp)	CA10585679	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252109	biolink:SequenceVariant	NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)	CA037376	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:438327	biolink:SequenceVariant	NM_000527.5(LDLR):c.1907G>T (p.Gly636Val)	CA404092833	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250946	biolink:SequenceVariant	NC_000019.10:g.11089400C>A	CA10584700	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251097	biolink:SequenceVariant	NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)	CA10584812	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252258	biolink:SequenceVariant	NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)	CA10585809	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:403628	biolink:SequenceVariant	NM_000527.4(LDLR):c.-140C>A	CA16609801	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250982	biolink:SequenceVariant	NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)	CA10584733	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:919564	biolink:SequenceVariant	NM_000527.5(LDLR):c.46C>G (p.Leu16Val)	CA404071705	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252065	biolink:SequenceVariant	NM_000527.5(LDLR):c.1845G>A (p.Glu615=)	CA500025	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251040	biolink:SequenceVariant	NM_000527.5(LDLR):c.169G>A (p.Asp57Asn)	CA10584771	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:523722	biolink:SequenceVariant	NM_000527.5(LDLR):c.170A>C (p.Asp57Ala)	CA404075004	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251087	biolink:SequenceVariant	NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)	CA10584802	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:923296	biolink:SequenceVariant	NM_000527.5(LDLR):c.239A>G (p.Asn80Ser)	CA404075595	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430774	biolink:SequenceVariant	NM_000527.5(LDLR):c.1221C>T (p.His407=)	CA505743141	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183115	biolink:SequenceVariant	NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)	CA023485	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252022	biolink:SequenceVariant	NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)	CA036508	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:441222	biolink:SequenceVariant	NM_000527.5(LDLR):c.1765G>T (p.Asp589Tyr)	CA404089744	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183125	biolink:SequenceVariant	NM_000527.5(LDLR):c.1765G>C (p.Asp589His)	CA023571	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252036	biolink:SequenceVariant	NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp)	CA10585617	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:424578	biolink:SequenceVariant	NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)	CA16621248	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:456652	biolink:SequenceVariant	NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)	CA658658781	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252071	biolink:SequenceVariant	NM_000527.5(LDLR):c.1845+15C>A	CA10585649	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251774	biolink:SequenceVariant	NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)	CA10585393	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251773	biolink:SequenceVariant	NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys)	CA10585392	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251775	biolink:SequenceVariant	NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)	CA033501	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:496018	biolink:SequenceVariant	NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro)	CA404085034	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251510	biolink:SequenceVariant	NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	CA030068	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430742	biolink:SequenceVariant	NM_000527.4(LDLR):c.-142C>G	CA645373260	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:924646	biolink:SequenceVariant	NM_000527.5(LDLR):c.899G>A (p.Arg300Lys)	CA404080996	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251704	biolink:SequenceVariant	NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser)	CA10585341	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:870321	biolink:SequenceVariant	NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg)	CA404083996	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440630	biolink:SequenceVariant	NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp)	CA404084653	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:924165	biolink:SequenceVariant	NM_000527.5(LDLR):c.1187G>T (p.Gly396Val)	CA404084654	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250949	biolink:SequenceVariant	NM_000527.4(LDLR):c.-140C>G	CA10584703	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250952	biolink:SequenceVariant	NM_000527.4(LDLR):c.-138T>C	CA10584706	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430745	biolink:SequenceVariant	NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)	CA041712	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252046	biolink:SequenceVariant	NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)	CA036744	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226304	biolink:SequenceVariant	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	CA041664	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183108	biolink:SequenceVariant	NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	CA023422	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250971	biolink:SequenceVariant	NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)	CA085719	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183094	biolink:SequenceVariant	NM_000527.5(LDLR):c.770_771delinsAC (p.Arg257His)	CA023759	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:927149	biolink:SequenceVariant	NM_000527.5(LDLR):c.770G>A (p.Arg257Gln)	CA029330	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440602	biolink:SequenceVariant	NM_000527.5(LDLR):c.770G>C (p.Arg257Pro)	CA404079930	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251447	biolink:SequenceVariant	NM_000527.5(LDLR):c.770G>T (p.Arg257Leu)	CA10585126	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:456412	biolink:SequenceVariant	NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	CA8814832	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:143526	biolink:SequenceVariant	NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)	CA274626	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:690207	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.14710G>A	CA913171880	HGNC:7479	NCBITaxon:9606	Homo sapiens
CLINVAR:9586	biolink:SequenceVariant	m.12315G>A	CA120558	HGNC:7491	NCBITaxon:9606	Homo sapiens
CLINVAR:42226	biolink:SequenceVariant	NC_012920.1:m.7471dup	CA214937	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:689871	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.3302A>G	CA913169174	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:9612	biolink:SequenceVariant	m.10010T>C	CA120577	HGNC:7486	NCBITaxon:9606	Homo sapiens
CLINVAR:9624	biolink:SequenceVariant	m.5650G>A	CA120587	HGNC:7475	NCBITaxon:9606	Homo sapiens
CLINVAR:986494	biolink:SequenceVariant	NC_012920.1:m.12294G>A	CA913170013	HGNC:7491	NCBITaxon:9606	Homo sapiens
CLINVAR:986422	biolink:SequenceVariant	NC_012920.1:m.8306T>C	CA913178900	HGNC:7489	NCBITaxon:9606	Homo sapiens
CLINVAR:9566	biolink:SequenceVariant	m.7511T>C	CA340922	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:932827	biolink:SequenceVariant	NM_000018.4:c.711_712del	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:935797	biolink:SequenceVariant	NM_000018.4(ACADVL):c.770del (p.Asp257fs)	CA981153094	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932845	biolink:SequenceVariant	NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)	CA1139665143	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:690181	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.12276G>A	CA913169952	HGNC:7491	NCBITaxon:9606	Homo sapiens
CLINVAR:689874	biolink:SequenceVariant	NC_012920.1:m.4298G>A	CA913177648	HGNC:7488	NCBITaxon:9606	Homo sapiens
CLINVAR:379889	biolink:SequenceVariant	NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	CA6904332	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:225920	biolink:SequenceVariant	NM_001482.3(GATM):c.1037C>T (p.Pro346Leu)	CA270166553	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:225916	biolink:SequenceVariant	NM_001482.3(GATM):c.622G>A (p.Ala208Thr)	CA7542887	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:225913	biolink:SequenceVariant	NM_001482.3(GATM):c.314C>T (p.Pro105Leu)	CA270169359	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:917494	biolink:SequenceVariant	NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)	CA392256552	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:917493	biolink:SequenceVariant	NM_001482.3(GATM):c.958C>T (p.Pro320Ser)	CA392257504	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:225918	biolink:SequenceVariant	NM_001482.3(GATM):c.845G>A (p.Arg282His)	CA270167214	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:225915	biolink:SequenceVariant	NM_001482.3(GATM):c.565C>T (p.Arg189Cys)	CA7542898	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:225914	biolink:SequenceVariant	NM_001482.3(GATM):c.541G>A (p.Glu181Lys)	CA7542902	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:1478699	biolink:SequenceVariant	NM_001321015.2:c.166G>C	CA392261143	HGNC:4175	NCBITaxon:9606	Homo sapiens
CA392260686	biolink:SequenceVariant	NM_001321015.2:c.242G>A	CA392260686	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:2446453	biolink:SequenceVariant	NM_138924.3:c.274A>G	CA402996427	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:556882	biolink:SequenceVariant	NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)	CA386493225	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1487846	biolink:SequenceVariant	NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp)	CA390885360	HGNC:17098	NCBITaxon:9606	Homo sapiens
CA1139532474	biolink:SequenceVariant	NM_000138.5:c.2034_2052del	CA1139532474	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA269524632	biolink:SequenceVariant	NM_000138.5:c.6505G>T	CA269524632	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA2573320295	biolink:SequenceVariant	NR_172720.1:n.2995+5_2995+7del	CA2573320295	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:645957	biolink:SequenceVariant	NM_177438.3(DICER1):c.2256+5G>C	CA915946393	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:429154	biolink:SequenceVariant	NM_177438.3(DICER1):c.5626G>A (p.Gly1876Arg)	CA7330608	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:644129	biolink:SequenceVariant	NM_177438.3(DICER1):c.5761A>C (p.Asn1921His)	CA7330596	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:483408	biolink:SequenceVariant	NM_177438.3(DICER1):c.5678T>C (p.Val1893Ala)	CA390863280	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825868	biolink:SequenceVariant	NM_177438.3(DICER1):c.5641A>G (p.Thr1881Ala)	CA7330607	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:375463	biolink:SequenceVariant	NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)	CA16044278	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:866837	biolink:SequenceVariant	NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)	CA6198221	HGNC:7606	NCBITaxon:9606	Homo sapiens
CA913187307	biolink:SequenceVariant	NM_001270448.2:c.107dup	CA913187307	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:92289	biolink:SequenceVariant	NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	CA220218	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:474878	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	CA287439291	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:941106	biolink:SequenceVariant	NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)	CA397723695	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932838	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1896dup (p.Asn633fs)	CA1139665163	HGNC:92	NCBITaxon:9606	Homo sapiens
CA343719989	biolink:SequenceVariant	NM_000261.2:c.55C>A	CA343719989	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421939411	biolink:SequenceVariant	NM_000261.2:c.423C>T	CA421939411	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421939121	biolink:SequenceVariant	NM_000261.2:c.498G>C	CA421939121	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421783387	biolink:SequenceVariant	NM_000261.2:c.654G>A	CA421783387	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726256	biolink:SequenceVariant	NM_000261.2:c.757G>A	CA343726256	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726232	biolink:SequenceVariant	NM_000261.2:c.764T>C	CA343726232	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343719729	biolink:SequenceVariant	NM_000261.2:c.116A>G	CA343719729	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244313	biolink:SequenceVariant	NM_000261.2:c.210C>T	CA1244313	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421939567	biolink:SequenceVariant	NM_000261.2:c.366C>A	CA421939567	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1139770890	biolink:SequenceVariant	NM_000261.2:c.375del	CA1139770890	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244287	biolink:SequenceVariant	NM_000261.2:c.382C>T	CA1244287	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343718023	biolink:SequenceVariant	NM_000261.2:c.532G>A	CA343718023	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1313921	biolink:SequenceVariant	NM_000261.2:c.547G>A	CA1244260	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293716	biolink:SequenceVariant	NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr)	CA1244255	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725980	biolink:SequenceVariant	NM_000261.2:c.821C>G	CA343725980	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA527600366	biolink:SequenceVariant	NM_000261.2:c.819del	CA527600366	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421938925	biolink:SequenceVariant	NM_000261.2:c.849G>A	CA421938925	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725776	biolink:SequenceVariant	NM_000261.2:c.864C>G	CA343725776	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343727113	biolink:SequenceVariant	NM_000261.2:c.622G>T	CA343727113	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725270	biolink:SequenceVariant	NM_000261.2:c.976G>A	CA343725270	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA32685841	biolink:SequenceVariant	NM_000261.2:c.991T>A	CA32685841	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343727064	biolink:SequenceVariant	NM_000261.2:c.644T>A	CA343727064	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725124	biolink:SequenceVariant	NM_000261.2:c.1009C>G	CA343725124	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726916	biolink:SequenceVariant	NM_000261.2:c.719A>G	CA343726916	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244093	biolink:SequenceVariant	NM_000261.2:c.1024A>G	CA1244093	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724604	biolink:SequenceVariant	NM_000261.2:c.1130C>G	CA343724604	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724410	biolink:SequenceVariant	NM_000261.2:c.1178G>A	CA343724410	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA32685503	biolink:SequenceVariant	NM_000261.2:c.1317C>G	CA32685503	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421938581	biolink:SequenceVariant	NM_000261.2:c.1452G>A	CA421938581	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722900	biolink:SequenceVariant	NM_000261.2:c.1486A>C	CA343722900	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726248	biolink:SequenceVariant	NM_000261.2:c.760C>A	CA343726248	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725757	biolink:SequenceVariant	NM_000261.2:c.868A>G	CA343725757	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725655	biolink:SequenceVariant	NM_000261.2:c.891G>C	CA343725655	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244115	biolink:SequenceVariant	NM_000261.2:c.938C>T	CA1244115	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1439558	biolink:SequenceVariant	NM_000261.2:c.1021T>C	CA343725060	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724987	biolink:SequenceVariant	NM_000261.2:c.1035A>G	CA343724987	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724596	biolink:SequenceVariant	NM_000261.2:c.1133A>G	CA343724596	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724341	biolink:SequenceVariant	NM_000261.2:c.1196G>A	CA343724341	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723835	biolink:SequenceVariant	NM_000261.2:c.1313C>T	CA343723835	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244048	biolink:SequenceVariant	NM_000261.2:c.1290C>T	CA1244048	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:412160	biolink:SequenceVariant	NM_177438.3(DICER1):c.5623G>A (p.Asp1875Asn)	CA7330611	HGNC:17098	NCBITaxon:9606	Homo sapiens
CA8603502	biolink:SequenceVariant	NM_000419.5:c.310+1G>A	CA8603502	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8602740	biolink:SequenceVariant	NM_000419.5:c.2315C>G	CA8602740	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940796	biolink:SequenceVariant	NM_000419.5:c.2415_2416del	CA915940796	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400033003	biolink:SequenceVariant	NM_000212.3:c.1990G>T	CA400033003	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:890710	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1157G>A (p.Arg386His)	CA400027662	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:890713	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys)	CA8623267	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622991	biolink:SequenceVariant	NM_000212.3:c.602del	CA8622991	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:2498348	biolink:SequenceVariant	NM_000212.3:c.655G>A	CA8623016	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399790399	biolink:SequenceVariant	NM_000419.5:c.2941C>T	CA399790399	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400029436	biolink:SequenceVariant	NM_000212.3:c.1476G>A	CA400029436	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400032606	biolink:SequenceVariant	NM_000212.3:c.1818G>T	CA400032606	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:9628	biolink:SequenceVariant	NC_012920.1:m.1555A>G	CA120590	HGNC:7470	NCBITaxon:9606	Homo sapiens
CA915940266	biolink:SequenceVariant	NM_000419.5:c.175del	CA915940266	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940809	biolink:SequenceVariant	NM_000212.3:c.1616_1617del	CA915940809	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:892353	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.43G>A (p.Glu15Lys)	CA8603557	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805912	biolink:SequenceVariant	NM_000419.5:c.470C>A	CA399805912	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400024376	biolink:SequenceVariant	NM_000212.3:c.792G>A	CA400024376	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:143603	biolink:SequenceVariant	NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	CA170308	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:324982	biolink:SequenceVariant	NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)	CA8337546	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:371464	biolink:SequenceVariant	NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	CA8337899	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:555732	biolink:SequenceVariant	NM_000018.4(ACADVL):c.342+15G>A	CA8337660	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1676595	biolink:SequenceVariant	NM_177438.3(DICER1):c.2523A>G (p.Gln841=)	CA487844850	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825824	biolink:SequenceVariant	NM_177438.3(DICER1):c.5552G>A (p.Arg1851His)	CA390864315	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:543574	biolink:SequenceVariant	NM_177438.3(DICER1):c.2256+6T>A	CA658798256	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:570456	biolink:SequenceVariant	NM_177438.3(DICER1):c.3161T>C (p.Leu1054Pro)	CA390876705	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1687567	biolink:SequenceVariant	NM_177438.3(DICER1):c.5135dup (p.Leu1712fs)	CA2573150332	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:648917	biolink:SequenceVariant	NM_177438.3(DICER1):c.5622C>A (p.Tyr1874Ter)	CA390863714	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1067574	biolink:SequenceVariant	NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)	CA401366794	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:972790	biolink:SequenceVariant	NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)	CA501005	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:982297	biolink:SequenceVariant	NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)	-	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1037598	biolink:SequenceVariant	NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)	CA294892175	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:92465	biolink:SequenceVariant	NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)	CA220390	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA913184761	biolink:SequenceVariant	NM_001079804.3:c.40_47del	CA913184761	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1353052	biolink:SequenceVariant	NM_000152.5:c.1076-1G>C	CA401364879	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:11699	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter)	CA913183983	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:520792	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1016+2T>C	CA415085022	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:430374	biolink:SequenceVariant	NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser)	CA402995333	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:844968	biolink:SequenceVariant	NM_000156.6(GAMT):c.328-1G>A	CA9043720	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:916122	biolink:SequenceVariant	NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)	CA402996483	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:849693	biolink:SequenceVariant	NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)	CA9043754	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:939992	biolink:SequenceVariant	NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)	CA631301069	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205598	biolink:SequenceVariant	NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)	CA314840	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA392254706	biolink:SequenceVariant	NM_001321015.2:c.851G>A	CA392254706	HGNC:4175	NCBITaxon:9606	Homo sapiens
CA415084325	biolink:SequenceVariant	NM_001142805.2:c.912G>A	CA415084325	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1211026	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp)	CA415079397	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415079466	biolink:SequenceVariant	NM_001142805.2:c.634G>T	CA415079466	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2573334474	biolink:SequenceVariant	NM_001142805.2:c.635_636del	CA2573334474	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:2446447	biolink:SequenceVariant	NM_001142805.2:c.856del	CA2573334475	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2573334479	biolink:SequenceVariant	NM_001142805.2:c.859del	CA2573334479	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:392462	biolink:SequenceVariant	NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)	CA16608969	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:689840	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.1630A>G	CA913163293	HGNC:7500	NCBITaxon:9606	Homo sapiens
CLINVAR:9573	biolink:SequenceVariant	m.583G>A	CA254834	HGNC:7481	NCBITaxon:9606	Homo sapiens
CLINVAR:689856	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.3243A>T	CA913168968	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:9683	biolink:SequenceVariant	m.15579A>G	CA120621	HGNC:7427	NCBITaxon:9606	Homo sapiens
CLINVAR:628229	biolink:SequenceVariant	NM_000038.6(APC):c.32dup (p.Gln12fs)	CA913188120	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:824698	biolink:SequenceVariant	NM_000038.6(APC):c.423-11A>G	CA915943443	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:217982	biolink:SequenceVariant	NM_000038.6(APC):c.423-3_423-2del	CA038361	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:804	biolink:SequenceVariant	NM_000038.6:c.509_512del	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:411469	biolink:SequenceVariant	NM_000038.6(APC):c.532-8G>A	CA16611747	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:218000	biolink:SequenceVariant	NM_000038.6(APC):c.645+1G>A	CA279701	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:827113	biolink:SequenceVariant	NM_000038.6(APC):c.754A>G (p.Thr252Ala)	CA16022984	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:418007	biolink:SequenceVariant	NM_000038.6(APC):c.835-8A>G	CA16618069	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:184999	biolink:SequenceVariant	NM_000038.6(APC):c.847C>T (p.Arg283Ter)	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:822187	biolink:SequenceVariant	NM_000038.6:c.1105TTG[1]	CA915942594	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:438864	biolink:SequenceVariant	NM_000038.6(APC):c.1240del (p.Arg414fs)	CA645509160	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:826	biolink:SequenceVariant	NM_000038.6(APC):c.1311_1312+1del	CA251620	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:230944	biolink:SequenceVariant	NM_000038.6(APC):c.1626+2T>G	CA10578321	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:411555	biolink:SequenceVariant	NM_000038.6(APC):c.1626+3A>G	CA16611623	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:649594	biolink:SequenceVariant	NM_000038.6(APC):c.1626G>C (p.Gln542His)	CA16024860	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:490221	biolink:SequenceVariant	NM_000038.6(APC):c.1627G>T (p.Val543Phe)	CA16024864	HGNC:583	NCBITaxon:9606	Homo sapiens
CA658760617	biolink:SequenceVariant	NM_001354906.2:c.1051dup	CA658760617	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:419202	biolink:SequenceVariant	NM_000038.6(APC):c.1956C>T (p.His652=)	CA16618077	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:428167	biolink:SequenceVariant	NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)	CA16028070	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:1393312	biolink:SequenceVariant	NM_001354906.2:c.2228A>G	CA16028071	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:428186	biolink:SequenceVariant	NM_000038.6(APC):c.3083G>A (p.Ser1028Asn)	CA16028084	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:469904	biolink:SequenceVariant	NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)	CA16028086	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:233215	biolink:SequenceVariant	NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)	CA10578350	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:862543	biolink:SequenceVariant	NM_000038.6(APC):c.3084T>G (p.Ser1028Arg)	CA16028087	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:816	biolink:SequenceVariant	NM_000038.6:c.3927_3931del	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:140839	biolink:SequenceVariant	NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)	CA009712	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:486786	biolink:SequenceVariant	NM_000038.6(APC):c.4778del (p.Lys1593fs)	CA658655953	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:411472	biolink:SequenceVariant	NM_000038.6(APC):c.5761G>A (p.Gly1921Ser)	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:371858	biolink:SequenceVariant	NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del)	CA16042098	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:486740	biolink:SequenceVariant	NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter)	CA16039798	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:950642	biolink:SequenceVariant	NM_000038.6(APC):c.8530T>G (p.Ter2844Glu)	CA360714779	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:537703	biolink:SequenceVariant	NC_000005.9:g.(?_112116481)_(112179829_?)dup	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:429040	biolink:SequenceVariant	NC_000005.10:g.(?_112707312)_(112707902_?)del	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:642643	biolink:SequenceVariant	NC_000005.10:g.(?_112775619)_(112801393_?)del	-	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:9618	biolink:SequenceVariant	m.14674T>C	CA120581	HGNC:7479	NCBITaxon:9606	Homo sapiens
CLINVAR:9610	biolink:SequenceVariant	m.12147G>A	CA120576	HGNC:7487	NCBITaxon:9606	Homo sapiens
CLINVAR:9580	biolink:SequenceVariant	m.8356T>C	CA120554	HGNC:7489	NCBITaxon:9606	Homo sapiens
CLINVAR:986496	biolink:SequenceVariant	NC_012920.1:m.12316G>A	CA913170089	HGNC:7491	NCBITaxon:9606	Homo sapiens
CLINVAR:9616	biolink:SequenceVariant	m.4332G>A	CA254844	HGNC:7495	NCBITaxon:9606	Homo sapiens
CLINVAR:9617	biolink:SequenceVariant	m.14709T>C	CA120580	HGNC:7479	NCBITaxon:9606	Homo sapiens
CLINVAR:102628	biolink:SequenceVariant	NM_000277.3(PAH):c.205C>T (p.Pro69Ser)	CA229486	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1460083	biolink:SequenceVariant	NM_001354304.2:c.603T>G	CA16020826	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020827	biolink:SequenceVariant	NM_001354304.2:c.604G>A	CA16020827	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:986440	biolink:SequenceVariant	NC_012920.1:m.4450G>A	CA913178210	HGNC:7492	NCBITaxon:9606	Homo sapiens
CA386304171	biolink:SequenceVariant	NM_001354304.2:c.229T>C	CA386304171	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102746	biolink:SequenceVariant	NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	CA229638	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:576828	biolink:SequenceVariant	NM_000277.3(PAH):c.686dup (p.Asp229fs)	CA891843538	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:2573215	biolink:SequenceVariant	NM_001354304.2:c.280_283del	CA2497030226	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:557365	biolink:SequenceVariant	NM_000277.3(PAH):c.1199+2T>G	CA386493122	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:595611	biolink:SequenceVariant	NM_000277.3(PAH):c.970-1G>C	CA242744496	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102625	biolink:SequenceVariant	NM_000277.2(PAH):c.199T>C (p.Ser67Pro)	CA229481	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:9565	biolink:SequenceVariant	m.7510T>C	CA340921	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:9581	biolink:SequenceVariant	m.8363G>A	CA120555	HGNC:7489	NCBITaxon:9606	Homo sapiens
CA8602771	biolink:SequenceVariant	NM_000419.5:c.2264G>A	CA8602771	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8603038	biolink:SequenceVariant	NM_000419.5:c.1553T>A	CA8603038	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA626121071	biolink:SequenceVariant	NM_000419.5:c.1946+3G>T	CA626121071	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA291224655	biolink:SequenceVariant	NM_000212.3:c.487A>C	CA291224655	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940807	biolink:SequenceVariant	NM_000212.3:c.812dup	CA915940807	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA291224635	biolink:SequenceVariant	NM_000212.3:c.385C>A	CA291224635	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627094	biolink:SequenceVariant	NM_000212.3(ITGB3):c.55dup (p.Ala19fs)	CA915940803	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:634433	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr)	CA8603459	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA16020822	biolink:SequenceVariant	NM_001354304.2:c.586T>A	CA16020822	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA409106289	biolink:SequenceVariant	NM_175914.5:c.582+1G>C	CA409106289	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409105438	biolink:SequenceVariant	NM_175914.5:c.337G>C	CA409105438	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409104278	biolink:SequenceVariant	NM_175914.5:c.278G>A	CA409104278	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:660424	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	CA397724799	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932842	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	CA397724835	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932852	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1316del (p.Gly439fs)	CA8338063	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932834	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1723dup (p.Leu575fs)	CA1139665159	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932176	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)	CA1139665160	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:373427	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs)	CA16043045	HGNC:92	NCBITaxon:9606	Homo sapiens
CA1139533037	biolink:SequenceVariant	NM_001270448.2:c.769_770insT	CA1139533037	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:618219	biolink:SequenceVariant	NC_012920.1(MT-ND6):m.14633A>G	CA414823366	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:618216	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.15467A>G	CA913173949	HGNC:7427	NCBITaxon:9606	Homo sapiens
CLINVAR:65513	biolink:SequenceVariant	m.14482C>G	CA344824	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9694	biolink:SequenceVariant	m.14487T>C	CA120627	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:544251	biolink:SequenceVariant	NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	CA402996954	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1402763	biolink:SequenceVariant	NM_000156.6(GAMT):c.64dup (p.Ala22fs)	CA631301051	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:8305	biolink:SequenceVariant	NM_000156.6(GAMT):c.148A>C (p.Met50Leu)	CA254380	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402998035	biolink:SequenceVariant	NM_138924.3:c.160G>C	CA402998035	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402998003	biolink:SequenceVariant	NM_138924.3:c.170C>A	CA402998003	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402997207	biolink:SequenceVariant	NM_138924.3:c.202G>T	CA402997207	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402997017	biolink:SequenceVariant	NM_138924.3:c.220G>C	CA402997017	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402995480	biolink:SequenceVariant	NM_138924.3:c.391G>C	CA402995480	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402995388	biolink:SequenceVariant	NM_138924.3:c.403G>T	CA402995388	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402995088	biolink:SequenceVariant	NM_138924.3:c.439C>T	CA402995088	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1335317	biolink:SequenceVariant	NM_000156.6(GAMT):c.476T>C (p.Leu159Pro)	CA402994686	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1409758	biolink:SequenceVariant	NM_000156.6(GAMT):c.526dup (p.Glu176fs)	CA913184710	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1328978	biolink:SequenceVariant	NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)	CA402991040	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:9583	biolink:SequenceVariant	m.8313G>A	CA254837	HGNC:7489	NCBITaxon:9606	Homo sapiens
CLINVAR:9622	biolink:SequenceVariant	m.5728T>C	CA120585	HGNC:7493	NCBITaxon:9606	Homo sapiens
CLINVAR:9620	biolink:SequenceVariant	m.5703G>A	CA120583	HGNC:7493	NCBITaxon:9606	Homo sapiens
CLINVAR:986477	biolink:SequenceVariant	NC_012920.1:m.5690A>G	CA913180249	HGNC:7493	NCBITaxon:9606	Homo sapiens
CLINVAR:9592	biolink:SequenceVariant	m.3303C>T	CA120562	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:393097	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe)	CA16608795	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:440665	biolink:SequenceVariant	NM_000527.5(LDLR):c.1836C>A (p.Ala612=)	CA036811	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251094	biolink:SequenceVariant	NM_000527.5(LDLR):c.250C>T (p.Pro84Ser)	CA10584809	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251095	biolink:SequenceVariant	NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)	CA10584810	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226310	biolink:SequenceVariant	NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)	CA10576272	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440592	biolink:SequenceVariant	NM_000527.5(LDLR):c.666C>T (p.Cys222=)	CA505743509	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:189298	biolink:SequenceVariant	NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	CA023773	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251805	biolink:SequenceVariant	NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT	CA10585420	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183128	biolink:SequenceVariant	NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	CA354422	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252127	biolink:SequenceVariant	NM_000527.5(LDLR):c.1951G>T (p.Asp651Tyr)	CA10585693	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252128	biolink:SequenceVariant	NM_000527.5(LDLR):c.1952A>T (p.Asp651Val)	CA10585694	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251727	biolink:SequenceVariant	NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)	CA10585351	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252306	biolink:SequenceVariant	NM_000527.5(LDLR):c.2389+5G>A	CA10585843	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252340	biolink:SequenceVariant	NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp)	CA10585869	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252341	biolink:SequenceVariant	NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)	CA040801	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161265	biolink:SequenceVariant	NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)	CA023675	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440701	biolink:SequenceVariant	NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser)	CA404099832	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252141	biolink:SequenceVariant	NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn)	CA10585704	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430757	biolink:SequenceVariant	NM_000527.5(LDLR):c.551G>C (p.Cys184Ser)	CA404077216	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250942	biolink:SequenceVariant	NM_000527.4(LDLR):c.-156C>T	CA10584696	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440600	biolink:SequenceVariant	NM_000527.5(LDLR):c.737G>T (p.Gly246Val)	CA404079680	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431538	biolink:SequenceVariant	NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)	CA404093067	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440670	biolink:SequenceVariant	NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe)	CA404093077	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251489	biolink:SequenceVariant	NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)	CA10585162	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:375809	biolink:SequenceVariant	NM_000527.5(LDLR):c.1186+5G>C	CA16602324	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251606	biolink:SequenceVariant	NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp)	CA10585258	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA386493486	biolink:SequenceVariant	NM_001354304.2:c.994G>A	CA386493486	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102810	biolink:SequenceVariant	NM_000277.2(PAH):c.733G>C (p.Val245Leu)	CA229724	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:9563	biolink:SequenceVariant	NC_012920.1:m.7445A>G	CA120547	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:9688	biolink:SequenceVariant	NC_012920.1:m.14484T>C	CA340932	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9570	biolink:SequenceVariant	m.15990C>T	CA120549	HGNC:7494	NCBITaxon:9606	Homo sapiens
CLINVAR:9560	biolink:SequenceVariant	m.12258C>A	CA120544	HGNC:7498	NCBITaxon:9606	Homo sapiens
CA421939061	biolink:SequenceVariant	NM_000261.2:c.798G>A	CA421939061	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725112	biolink:SequenceVariant	NM_000261.2:c.1011G>T	CA343725112	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724698	biolink:SequenceVariant	NM_000261.2:c.1107C>G	CA343724698	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724639	biolink:SequenceVariant	NM_000261.2:c.1121G>T	CA343724639	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724203	biolink:SequenceVariant	NM_000261.2:c.1240G>A	CA343724203	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724007	biolink:SequenceVariant	NM_000261.2:c.1288T>C	CA343724007	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244044	biolink:SequenceVariant	NM_000261.2:c.1314C>T	CA1244044	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723686	biolink:SequenceVariant	NM_000261.2:c.1339G>A	CA343723686	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244037	biolink:SequenceVariant	NM_000261.2:c.1340C>T	CA1244037	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723116	biolink:SequenceVariant	NM_000261.2:c.1447G>T	CA343723116	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722865	biolink:SequenceVariant	NM_000261.2:c.1492G>C	CA343722865	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343718550	biolink:SequenceVariant	NM_000261.2:c.365G>C	CA343718550	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293712	biolink:SequenceVariant	NM_000261.2(MYOC):c.871G>A (p.Val291Ile)	CA10608375	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:133063	biolink:SequenceVariant	NM_000540.2(RYR1):c.1422G>T (p.Gln474His)	CA024122	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133059	biolink:SequenceVariant	NM_000540.2(RYR1):c.14201G>A (p.Gly4734Glu)	CA024112	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:133069	biolink:SequenceVariant	NM_000540.2(RYR1):c.14458G>T (p.Gly4820Trp)	CA024145	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1213826	biolink:SequenceVariant	NM_001042723.2:c.5440A>G	CA405655316	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:224402	biolink:SequenceVariant	NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr)	CA059076	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1018682	biolink:SequenceVariant	NM_001042723.2:c.1411C>T	CA405686675	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:141972	biolink:SequenceVariant	NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)	CA166979	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:830187	biolink:SequenceVariant	NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)	CA7963442	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:232594	biolink:SequenceVariant	NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	CA10579920	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:492220	biolink:SequenceVariant	NM_024675.3(PALB2):c.338C>T (p.Pro113Leu)	CA395137757	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:944799	biolink:SequenceVariant	NM_024675.4(PALB2):c.3543del (p.Phe1181fs)	CA1139664609	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:580962	biolink:SequenceVariant	NM_024675.3(PALB2):c.532del (p.Glu178fs)	CA891843628	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:241572	biolink:SequenceVariant	NM_024675.3(PALB2):c.871G>A (p.Ala291Thr)	CA10583380	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:657328	biolink:SequenceVariant	NM_024675.4(PALB2):c.104T>C (p.Leu35Pro)	CA279502031	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:818335	biolink:SequenceVariant	NM_024675.4(PALB2):c.108+1_108+2insC	CA915949143	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:185108	biolink:SequenceVariant	NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)	CA191059	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:126609	biolink:SequenceVariant	NM_024675.3(PALB2):c.1592del (p.Leu531fs)	CA250432	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:482029	biolink:SequenceVariant	NM_024675.3(PALB2):c.1684+1G>A	CA395129867	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:143966	biolink:SequenceVariant	NM_024675.3(PALB2):c.2074C>T (p.Gln692Ter)	CA294556	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:186990	biolink:SequenceVariant	NM_024675.3(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)	CA196418	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:126660	biolink:SequenceVariant	NM_024675.3(PALB2):c.2559C>T (p.Gly853=)	CA269540	HGNC:26144	NCBITaxon:9606	Homo sapiens
CA395121845	biolink:SequenceVariant	NM_024675.4:c.2734T>G	CA395121845	HGNC:26144	NCBITaxon:9606	Homo sapiens
CA915941070	biolink:SequenceVariant	NM_024675.4:c.2787_2788dup	CA915941070	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:187262	biolink:SequenceVariant	NM_024675.3(PALB2):c.2831T>A (p.Ile944Asn)	CA197176	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:232977	biolink:SequenceVariant	NM_024675.3(PALB2):c.3089C>T (p.Thr1030Ile)	CA10579934	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:126711	biolink:SequenceVariant	NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter)	CA251004	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:126737	biolink:SequenceVariant	NM_024675.3(PALB2):c.3350+4A>G	CA269618	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:126739	biolink:SequenceVariant	NM_024675.3(PALB2):c.3362del (p.Gly1121fs)	CA167019	HGNC:26144	NCBITaxon:9606	Homo sapiens
CA915941064	biolink:SequenceVariant	NM_024675.4:c.3510del	CA915941064	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:128144	biolink:SequenceVariant	NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	CA288488	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:186820	biolink:SequenceVariant	NM_024675.3(PALB2):c.49-2A>T	CA195965	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:461007	biolink:SequenceVariant	NM_024675.3(PALB2):c.514_517del (p.Ser172fs)	CA658658444	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:484222	biolink:SequenceVariant	NM_024675.3(PALB2):c.682C>T (p.Gln228Ter)	CA395136420	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:241571	biolink:SequenceVariant	NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)	CA10583388	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:410148	biolink:SequenceVariant	NM_024675.3(PALB2):c.82T>A (p.Tyr28Asn)	CA16615316	HGNC:26144	NCBITaxon:9606	Homo sapiens
CLINVAR:480243	biolink:SequenceVariant	NM_024675.3(PALB2):c.839del (p.Asn280fs)	CA494462159	HGNC:26144	NCBITaxon:9606	Homo sapiens
CA399789759	biolink:SequenceVariant	NM_000419.5:c.2994G>A	CA399789759	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399790478	biolink:SequenceVariant	NM_000419.5:c.2933G>T	CA399790478	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805805	biolink:SequenceVariant	NM_000419.5:c.520T>C	CA399805805	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:374016	biolink:SequenceVariant	NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)	CA16043530	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:374015	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)	CA16043531	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA626379036	biolink:SequenceVariant	NM_000212.3:c.887_901del	CA626379036	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400028186	biolink:SequenceVariant	NM_000212.3:c.2T>C	CA400028186	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622972	biolink:SequenceVariant	NM_000212.3:c.538G>A	CA8622972	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622859	biolink:SequenceVariant	NM_000212.3:c.155G>T	CA8622859	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA626684826	biolink:SequenceVariant	NM_000212.3:c.1658_1660del	CA626684826	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:133058	biolink:SequenceVariant	NM_000540.2(RYR1):c.14197T>G (p.Tyr4733Asp)	CA024110	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:474888	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	CA8338123	HGNC:92	NCBITaxon:9606	Homo sapiens
CA891834518	biolink:SequenceVariant	NM_001079804.3:c.2799+5G>A	CA891834518	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:932828	biolink:SequenceVariant	NM_000018.4:c.879-8T>A	CA915940901	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:252000	biolink:SequenceVariant	NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)	CA10585585	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:406163	biolink:SequenceVariant	NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys)	CA16615991	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226343	biolink:SequenceVariant	NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)	CA10576296	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:689349	biolink:SequenceVariant	NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)	CA305299648	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440698	biolink:SequenceVariant	NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)	CA404098878	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440697	biolink:SequenceVariant	NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln)	CA404098844	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252321	biolink:SequenceVariant	NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)	CA10585851	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251850	biolink:SequenceVariant	NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys)	CA10585459	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440645	biolink:SequenceVariant	NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu)	CA404086098	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251847	biolink:SequenceVariant	NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)	CA10585457	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440646	biolink:SequenceVariant	NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys)	CA404086103	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:430740	biolink:SequenceVariant	NM_000527.4(LDLR):c.-286C>G	CA305287212	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251649	biolink:SequenceVariant	NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)	CA10585290	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431519	biolink:SequenceVariant	NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln)	CA404083133	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251651	biolink:SequenceVariant	NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly)	CA031903	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431508	biolink:SequenceVariant	NM_000527.4(LDLR):c.191-?_940+?del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251127	biolink:SequenceVariant	NM_000527.5(LDLR):c.305A>C (p.Gln102Pro)	CA10584836	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251537	biolink:SequenceVariant	NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)	CA10585207	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161280	biolink:SequenceVariant	NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)	CA023782	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251519	biolink:SequenceVariant	NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)	CA10585190	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:1437514	biolink:SequenceVariant	NM_000527.5(LDLR):c.915G>T (p.Trp305Cys)	CA404081046	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251521	biolink:SequenceVariant	NM_000527.5(LDLR):c.915G>C (p.Trp305Cys)	CA10585191	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251081	biolink:SequenceVariant	NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)	CA10584797	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:1331775	biolink:SequenceVariant	NM_000527.5(LDLR):c.226G>C (p.Gly76Arg)	CA042515	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251362	biolink:SequenceVariant	NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)	CA10585053	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440599	biolink:SequenceVariant	NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)	CA404079636	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:417370	biolink:SequenceVariant	NM_000527.4(LDLR):c.941-?_1060+?del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:369855	biolink:SequenceVariant	NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)	CA037264	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431513	biolink:SequenceVariant	NM_000527.4(LDLR):c.695-?_817+?del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251223	biolink:SequenceVariant	NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)	CA10584919	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183098	biolink:SequenceVariant	NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	CA023778	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:977996	biolink:SequenceVariant	NM_000527.5(LDLR):c.844T>C (p.Phe282Leu)	CA404080610	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:977997	biolink:SequenceVariant	NM_000527.5(LDLR):c.845T>G (p.Phe282Cys)	CA404080624	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:1466547	biolink:SequenceVariant	NM_000527.5(LDLR):c.845T>C (p.Phe282Ser)	CA404080622	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431547	biolink:SequenceVariant	NM_000527.4(LDLR):c.2312-?_2547+?del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251691	biolink:SequenceVariant	NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)	CA10585330	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440626	biolink:SequenceVariant	NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro)	CA404083801	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251692	biolink:SequenceVariant	NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg)	CA10585331	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252120	biolink:SequenceVariant	NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro)	CA10585687	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183106	biolink:SequenceVariant	NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	CA023406	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440618	biolink:SequenceVariant	NM_000527.5(LDLR):c.1028G>T (p.Gly343Val)	CA404082758	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251605	biolink:SequenceVariant	NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys)	CA10585257	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251406	biolink:SequenceVariant	NM_000527.5(LDLR):c.694+25C>T	CA044382	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440623	biolink:SequenceVariant	NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)	CA404083112	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251645	biolink:SequenceVariant	NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala)	CA10585287	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183114	biolink:SequenceVariant	NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)	CA023482	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226332	biolink:SequenceVariant	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	CA044260	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251735	biolink:SequenceVariant	NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro)	CA10585359	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:431523	biolink:SequenceVariant	NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)	CA404084697	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:369861	biolink:SequenceVariant	NM_000527.5(LDLR):c.1060+9C>T	CA031713	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252033	biolink:SequenceVariant	NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn)	CA10585614	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252032	biolink:SequenceVariant	NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu)	CA10585613	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226402	biolink:SequenceVariant	NM_000527.4(LDLR):c.2390-?_2547+?del	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251425	biolink:SequenceVariant	NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)	CA10585105	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251121	biolink:SequenceVariant	NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)	CA10584832	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251122	biolink:SequenceVariant	NM_000527.5(LDLR):c.299A>G (p.Asp100Gly)	CA10584833	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440556	biolink:SequenceVariant	NM_000527.5(LDLR):c.300C>G (p.Asp100Glu)	CA404075813	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251583	biolink:SequenceVariant	NM_000527.5(LDLR):c.979C>T (p.His327Tyr)	CA030996	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:918325	biolink:SequenceVariant	NM_000527.5(LDLR):c.980A>C (p.His327Pro)	CA404082671	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:403665	biolink:SequenceVariant	NM_000527.5(LDLR):c.981C>A (p.His327Gln)	CA16609808	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:36452	biolink:SequenceVariant	NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	CA023415	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183083	biolink:SequenceVariant	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	CA023666	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251088	biolink:SequenceVariant	NM_000527.5(LDLR):c.241C>A (p.Arg81Ser)	CA10584803	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:924271	biolink:SequenceVariant	NM_000527.5(LDLR):c.242G>A (p.Arg81His)	CA404075600	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251828	biolink:SequenceVariant	NM_000527.5(LDLR):c.1403T>A (p.Val468Asp)	CA10585439	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251894	biolink:SequenceVariant	NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu)	CA10585499	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183105	biolink:SequenceVariant	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	CA023402	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:926520	biolink:SequenceVariant	NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)	CA031125	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:225181	biolink:SequenceVariant	NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)	CA358775	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251587	biolink:SequenceVariant	NM_000527.5(LDLR):c.1004G>T (p.Gly335Val)	CA10585240	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:226299	biolink:SequenceVariant	NM_000527.4(LDLR):c.-120C>T	CA10576265	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:1395739	biolink:SequenceVariant	NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys)	CA404082719	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA343719449	biolink:SequenceVariant	NM_000261.2:c.169A>G	CA343719449	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726991	biolink:SequenceVariant	NM_000261.2:c.683T>C	CA343726991	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724686	biolink:SequenceVariant	NM_000261.2:c.1111T>G	CA343724686	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724606	biolink:SequenceVariant	NM_000261.2:c.1130C>A	CA343724606	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:806282	biolink:SequenceVariant	NM_000261.2(MYOC):c.1278C>T (p.Val426=)	CA421938719	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723939	biolink:SequenceVariant	NM_000261.2:c.1298G>A	CA343723939	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723671	biolink:SequenceVariant	NM_000261.2:c.1342A>C	CA343723671	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723526	biolink:SequenceVariant	NM_000261.2:c.1373G>A	CA343723526	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:875032	biolink:SequenceVariant	NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys)	CA32685408	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1173106	biolink:SequenceVariant	NM_000261.2:c.1435T>C	CA343723184	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244341	biolink:SequenceVariant	NM_000261.2:c.42G>A	CA1244341	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343722726	biolink:SequenceVariant	NM_000261.2:c.1515A>G	CA343722726	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1048923	biolink:SequenceVariant	NM_000261.2(MYOC):c.365G>A (p.Gly122Asp)	CA343718551	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1302992	biolink:SequenceVariant	NM_000261.2(MYOC):c.365G>T (p.Gly122Val)	CA343718552	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:877000	biolink:SequenceVariant	NM_000261.2(MYOC):c.573T>A (p.Thr191=)	CA1244254	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723197	biolink:SequenceVariant	NM_000261.2:c.1432G>T	CA343723197	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:431972	biolink:SequenceVariant	NM_000162.5(GCK):c.566T>C (p.Ile189Thr)	CA367401550	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:133976	biolink:SequenceVariant	NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:242139	biolink:SequenceVariant	NM_177438.3(DICER1):c.5524A>G (p.Ile1842Val)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:479634	biolink:SequenceVariant	NM_177438.3(DICER1):c.5515C>T (p.Arg1839Trp)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825798	biolink:SequenceVariant	NM_177438.3(DICER1):c.5514G>A (p.Met1838Ile)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825790	biolink:SequenceVariant	NM_177438.3(DICER1):c.5509A>G (p.Met1837Val)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825823	biolink:SequenceVariant	NM_177438.3(DICER1):c.5551C>T (p.Arg1851Cys)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:479625	biolink:SequenceVariant	NM_177438.3(DICER1):c.5504A>C (p.Tyr1835Ser)	-	HGNC:17098	NCBITaxon:9606	Homo sapiens
CA915940290	biolink:SequenceVariant	NM_000419.5:c.2478dup	CA915940290	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399801154	biolink:SequenceVariant	NM_000419.5:c.1922C>T	CA399801154	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399795582	biolink:SequenceVariant	NM_000419.5:c.2449-1G>C	CA399795582	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399803370	biolink:SequenceVariant	NM_000419.5:c.1429G>C	CA399803370	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940265	biolink:SequenceVariant	NM_000419.5:c.1524_1533del	CA915940265	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805578	biolink:SequenceVariant	NM_000419.5:c.617T>A	CA399805578	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400022111	biolink:SequenceVariant	NM_000212.3:c.473A>T	CA400022111	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400033092	biolink:SequenceVariant	NM_000212.3:c.2027A>C	CA400033092	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA400023428	biolink:SequenceVariant	NM_000212.3:c.646T>C	CA400023428	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:9590	biolink:SequenceVariant	m.3271T>C	-	HGNC:7490	NCBITaxon:9606	Homo sapiens
CLINVAR:30004	biolink:SequenceVariant	m.12201T>C	-	HGNC:7487	NCBITaxon:9606	Homo sapiens
CLINVAR:9569	biolink:SequenceVariant	m.7497G>A	-	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:693062	biolink:SequenceVariant	NC_012920.1(MT-ATP6):m.9038T>C	-	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:9722	biolink:SequenceVariant	NC_012920.1:m.3460G>A	-	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:133144	biolink:SequenceVariant	NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe)	-	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:932844	biolink:SequenceVariant	NM_000018.4(ACADVL):c.753-2A>G	CA397723611	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:810628	biolink:SequenceVariant	NM_000156.6(GAMT):c.491del (p.Gly164fs)	CA9043627	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1312506	biolink:SequenceVariant	NM_000156.6(GAMT):c.497T>C (p.Leu166Pro)	CA402994573	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:8304	biolink:SequenceVariant	NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	CA254379	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1067935	biolink:SequenceVariant	NM_000156.6(GAMT):c.526del (p.Glu176fs)	CA2499225402	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402994004	biolink:SequenceVariant	NM_138924.3:c.564G>T	CA402994004	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:939221	biolink:SequenceVariant	NM_000156.6(GAMT):c.571-3C>G	CA631044684	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA504731701	biolink:SequenceVariant	NM_138924.3:c.58dup	CA504731701	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402990982	biolink:SequenceVariant	NM_000156.6:c.590T>C	CA402990982	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA2579753928	biolink:SequenceVariant	NM_000156.6:c.595dup	CA2579753928	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA2499307108	biolink:SequenceVariant	NM_000156.6:c.610_611delinsGAA	CA2499307108	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:8303	biolink:SequenceVariant	NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	CA340769	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:947458	biolink:SequenceVariant	NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)	CA9043673	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:449690	biolink:SequenceVariant	NM_000156.6(GAMT):c.317A>C (p.Gln106Pro)	CA9043739	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1361089	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu)	CA415086230	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:2136533	biolink:SequenceVariant	NM_000162.5(GCK):c.45G>A (p.Lys15=)	CA454592033	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2018007653	biolink:SequenceVariant	NM_033508.3:c.624_625delinsAG	CA2018007653	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401305	biolink:SequenceVariant	NM_033508.3:c.625A>G	CA367401305	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36224	biolink:SequenceVariant	NM_000162.5(GCK):c.483G>A (p.Lys161=)	CA213792	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402542	biolink:SequenceVariant	NM_033508.3:c.360+2T>A	CA367402542	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573102977	biolink:SequenceVariant	NM_001354803.2:c.425_426del	CA2573102977	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573050986	biolink:SequenceVariant	NM_033508.3:c.506_514dup	CA2573050986	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1299751	biolink:SequenceVariant	NM_175914.5(HNF4A):c.3G>A (p.Met1Ile)	CA409109842	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1299750	biolink:SequenceVariant	NM_175914.5(HNF4A):c.-181G>A	CA2499225756	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409103994	biolink:SequenceVariant	NM_175914.5:c.209A>G	CA409103994	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:393110	biolink:SequenceVariant	NM_175914.5(HNF4A):c.224+2T>C	CA16607985	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447515	biolink:SequenceVariant	NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)	CA409104106	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36348	biolink:SequenceVariant	NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)	CA213928	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409104377	biolink:SequenceVariant	NM_175914.5:c.304G>A	CA409104377	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409105868	biolink:SequenceVariant	NM_175914.5:c.427-2A>G	CA409105868	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:9215	biolink:SequenceVariant	NM_175914.5(HNF4A):c.583-2del	CA913187448	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36356	biolink:SequenceVariant	NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)	CA213966	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1700660	biolink:SequenceVariant	NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)	CA409107565	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:586021	biolink:SequenceVariant	NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp)	CA409107570	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:972810	biolink:SequenceVariant	NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)	CA409108255	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36344	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)	CA213906	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409110466	biolink:SequenceVariant	NM_175914.5:c.1306A>T	CA409110466	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:875084	biolink:SequenceVariant	NM_000261.2(MYOC):c.652G>A (p.Glu218Lys)	CA1244202	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244285	biolink:SequenceVariant	NM_000261.2:c.384G>C	CA1244285	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244113	biolink:SequenceVariant	NM_000261.2:c.952C>T	CA1244113	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293710	biolink:SequenceVariant	NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)	CA1244102	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244072	biolink:SequenceVariant	NM_000261.2:c.1160G>A	CA1244072	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244046	biolink:SequenceVariant	NM_000261.2:c.1302C>T	CA1244046	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723639	biolink:SequenceVariant	NM_000261.2:c.1348A>T	CA343723639	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723002	biolink:SequenceVariant	NM_000261.2:c.1466G>A	CA343723002	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1139771053	biolink:SequenceVariant	NM_000261.2:c.1466_1467insC	CA1139771053	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA32686049	biolink:SequenceVariant	NM_000261.2:c.879G>A	CA32686049	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724078	biolink:SequenceVariant	NM_000261.2:c.1274C>G	CA343724078	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:877041	biolink:SequenceVariant	NM_000261.2(MYOC):c.31T>C (p.Phe11Leu)	CA343720120	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1324771	biolink:SequenceVariant	NM_000261.2(MYOC):c.898G>T (p.Glu300Ter)	CA343725609	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:701285	biolink:SequenceVariant	NM_000212.3(ITGB3):c.414G>C (p.Val138=)	CA8622959	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627234	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1409dup (p.Asn470fs)	CA500651166	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399806497	biolink:SequenceVariant	NM_000419.5:c.212C>G	CA399806497	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400034479	biolink:SequenceVariant	NM_000212.3:c.2301+1G>C	CA400034479	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399806084	biolink:SequenceVariant	NM_000419.5:c.399C>G	CA399806084	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2181112	biolink:SequenceVariant	NM_000212.3:c.473A>G	CA8622965	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940780	biolink:SequenceVariant	NM_000419.5:c.539del	CA915940780	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399802364	biolink:SequenceVariant	NM_000419.5:c.1642C>T	CA399802364	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:892302	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg)	CA8602976	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:983532	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.942_944del (p.Phe315del)	CA1139667843	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:573140	biolink:SequenceVariant	NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	CA9043671	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:932829	biolink:SequenceVariant	NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	CA8337902	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:189008	biolink:SequenceVariant	NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	CA274249	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:2058739	biolink:SequenceVariant	NM_001270448.2:c.844A>G	CA8337932	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1623	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	CA251903	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:406374	biolink:SequenceVariant	NM_000138.4(FBN1):c.799_805del (p.Gly267fs)	CA16614686	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:42420	biolink:SequenceVariant	NM_000138.4(FBN1):c.7165_7166CT[1] (p.Cys2390fs)	-	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:426140	biolink:SequenceVariant	NM_000138.4(FBN1):c.629G>A (p.Cys210Tyr)	CA392446003	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA916084365	biolink:SequenceVariant	NM_000138.5:c.5734_5736del	CA916084365	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA392325892	biolink:SequenceVariant	NM_000138.5:c.7540G>T	CA392325892	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200198	biolink:SequenceVariant	NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)	CA017256	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:431935	biolink:SequenceVariant	NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)	CA392331935	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:406332	biolink:SequenceVariant	NM_000138.5(FBN1):c.4583-5A>G	CA16614422	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:373598	biolink:SequenceVariant	NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)	CA16042872	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:189623	biolink:SequenceVariant	NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)	CA199447	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:217360	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)	CA279171	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:286706	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)	CA10605540	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:452682	biolink:SequenceVariant	NM_005249.5(FOXG1):c.573G>A (p.Met191Ile)	CA389475390	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:547390	biolink:SequenceVariant	NM_005249.5(FOXG1):c.565C>G (p.Leu189Val)	CA389475372	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:658951	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)	CA412351039	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:803714	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)	CA412489767	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:870171	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)	CA412349776	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:985267	biolink:SequenceVariant	NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)	CA389475496	HGNC:3811	NCBITaxon:9606	Homo sapiens
CA2573102976	biolink:SequenceVariant	NM_001354803.2:c.425del	CA2573102976	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2497028747	biolink:SequenceVariant	NM_001354803.2:c.413_*2del	CA2497028747	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573102978	biolink:SequenceVariant	NM_001354803.2:c.412del	CA2573102978	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997780	biolink:SequenceVariant	NM_001354803.2:c.407_418del	CA2017997780	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997779	biolink:SequenceVariant	NM_001354803.2:c.402del	CA2017997779	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2496602227	biolink:SequenceVariant	NM_001354803.2:c.392_*127delinsT	CA2496602227	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1708917	biolink:SequenceVariant	NM_001354803.2:c.385del	CA2017997778	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36197	biolink:SequenceVariant	NM_000162.5(GCK):c.1332del (p.Ser445fs)	CA213755	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397060	biolink:SequenceVariant	NM_001354803.2:c.347T>A	CA367397060	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997767	biolink:SequenceVariant	NM_001354803.2:c.346_348del	CA2017997767	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573106064	biolink:SequenceVariant	NM_001354803.2:c.341_353del	CA2573106064	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36191	biolink:SequenceVariant	NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)	-	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1301411	biolink:SequenceVariant	NM_000162.5(GCK):c.1278_1279del (p.Val427fs)	CA1139771800	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA1139771342	biolink:SequenceVariant	NM_001354803.2:c.299_307delinsTGCGAGCCACCTTCAT	CA1139771342	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:817706	biolink:SequenceVariant	NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC	CA915948961	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:597013	biolink:SequenceVariant	NM_130839.5(UBE3A):c.*4A>G	CA7435334	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:654347	biolink:SequenceVariant	NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser)	CA7435573	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:390176	biolink:SequenceVariant	NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)	CA16606897	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:850340	biolink:SequenceVariant	NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser)	CA267785992	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:418562	biolink:SequenceVariant	NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)	CA7435364	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:211455	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)	CA208666	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:804844	biolink:SequenceVariant	NM_000162.5(GCK):c.1360del (p.Ala454fs)	CA915944915	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997776	biolink:SequenceVariant	NM_001354803.2:c.380_396del	CA2017997776	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:393448	biolink:SequenceVariant	NM_000162.5(GCK):c.1344del (p.Ala449fs)	CA16609265	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997775	biolink:SequenceVariant	NM_001354803.2:c.377del	CA2017997775	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997774	biolink:SequenceVariant	NM_001354803.2:c.373dup	CA2017997774	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:421604	biolink:SequenceVariant	NM_000162.5(GCK):c.1339del (p.Arg447fs)	CA16618465	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997773	biolink:SequenceVariant	NM_001354803.2:c.369_379del	CA2017997773	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1320655	biolink:SequenceVariant	NM_000162.5(GCK):c.1322C>G (p.Ser441Trp)	CA367397017	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:435298	biolink:SequenceVariant	NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)	CA367397015	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573106102	biolink:SequenceVariant	NM_001354803.2:c.353_357dup	CA2573106102	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397036	biolink:SequenceVariant	NM_001354803.2:c.352G>T	CA367397036	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573106063	biolink:SequenceVariant	NM_001354803.2:c.343_344del	CA2573106063	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397114	biolink:SequenceVariant	NM_001354803.2:c.336C>A	CA367397114	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397285	biolink:SequenceVariant	NM_001354803.2:c.295G>T	CA367397285	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2018007672	biolink:SequenceVariant	NM_001354803.2:c.295del	CA2018007672	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397309	biolink:SequenceVariant	NM_001354803.2:c.290T>C	CA367397309	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA1139771322	biolink:SequenceVariant	NM_001354803.2:c.290del	CA1139771322	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397313	biolink:SequenceVariant	NM_001354803.2:c.289T>G	CA367397313	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:252467	biolink:SequenceVariant	NM_000152.5(GAA):c.2417C>T (p.Thr806Met)	CA8815734	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA367397324	biolink:SequenceVariant	NM_001354803.2:c.288-1G>T	CA367397324	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36188	biolink:SequenceVariant	NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)	CA213739	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:811525	biolink:SequenceVariant	NM_000018.4(ACADVL):c.623-1G>A	CA397723333	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:371635	biolink:SequenceVariant	NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	CA8337855	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932836	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)	CA397725955	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:811520	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1882del (p.Gln628fs)	CA497694556	HGNC:92	NCBITaxon:9606	Homo sapiens
CA1139532272	biolink:SequenceVariant	NM_001270448.2:c.1216_1220del	CA1139532272	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:965068	biolink:SequenceVariant	NM_000018.3(ACADVL):c.625del	CA1139665140	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:291163	biolink:SequenceVariant	NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	CA10607042	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:370981	biolink:SequenceVariant	NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	CA8337873	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932832	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1605+2T>A	CA397725472	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932831	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)	CA1139665155	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:656452	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1605+2T>C	CA397725473	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932839	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)	CA397726275	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:178503	biolink:SequenceVariant	NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)	CA182451	HGNC:8515	NCBITaxon:9606	Homo sapiens
CLINVAR:446446	biolink:SequenceVariant	NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)	CA5545996	HGNC:13733	NCBITaxon:9606	Homo sapiens
CLINVAR:265402	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del)	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA1244149	biolink:SequenceVariant	NM_000261.2:c.814C>T	CA1244149	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244148	biolink:SequenceVariant	NM_000261.2:c.816A>T	CA1244148	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1698736	biolink:SequenceVariant	NM_000261.2:c.844del	CA1244142	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244099	biolink:SequenceVariant	NM_000261.2:c.1001T>C	CA1244099	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724527	biolink:SequenceVariant	NM_000261.2:c.1150G>C	CA343724527	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724521	biolink:SequenceVariant	NM_000261.2:c.1151A>G	CA343724521	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244069	biolink:SequenceVariant	NM_000261.2:c.1183G>A	CA1244069	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244068	biolink:SequenceVariant	NM_000261.2:c.1185T>G	CA1244068	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723421	biolink:SequenceVariant	NM_000261.2:c.1395C>G	CA343723421	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA1244017	biolink:SequenceVariant	NM_000261.2:c.1463C>T	CA1244017	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA421939232	biolink:SequenceVariant	NM_000261.2:c.468G>A	CA421939232	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725024	biolink:SequenceVariant	NM_000261.2:c.1028C>A	CA343725024	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:625855	biolink:SequenceVariant	NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)	CA32685677	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343720209	biolink:SequenceVariant	NM_000261.2:c.14G>A	CA343720209	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724106	biolink:SequenceVariant	NM_000261.2:c.1267A>C	CA343724106	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726305	biolink:SequenceVariant	NM_000261.2:c.733T>G	CA343726305	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343726308	biolink:SequenceVariant	NM_000261.2:c.731G>C	CA343726308	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:21077	biolink:SequenceVariant	NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)	CA341587	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2169517	biolink:SequenceVariant	NM_000162.5(GCK):c.1181G>C (p.Arg394Pro)	CA367398581	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1522625	biolink:SequenceVariant	NM_000162.5(GCK):c.1181G>T (p.Arg394Leu)	CA367398578	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398617	biolink:SequenceVariant	NM_001354803.2:c.209G>C	CA367398617	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585909	biolink:SequenceVariant	NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)	CA367398622	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1256304	biolink:SequenceVariant	NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr)	CA367398751	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447384	biolink:SequenceVariant	NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)	CA367398754	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36178	biolink:SequenceVariant	NM_000162.5(GCK):c.1142T>G (p.Met381Arg)	CA213719	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398764	biolink:SequenceVariant	NM_001354803.2:c.176T>C	CA367398764	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36177	biolink:SequenceVariant	NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)	CA213717	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447382	biolink:SequenceVariant	NM_000162.5(GCK):c.1136C>G (p.Ala379Gly)	CA367398793	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:804832	biolink:SequenceVariant	NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)	CA367399180	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:280955	biolink:SequenceVariant	NM_000152.5(GAA):c.546G>A (p.Thr182=)	CA8814895	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:638014	biolink:SequenceVariant	NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)	CA401367134	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:960182	biolink:SequenceVariant	NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)	CA8815361	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA2573334965	biolink:SequenceVariant	NR_172720.1:n.2097+213A>G	CA2573334965	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1513387	biolink:SequenceVariant	NM_177438.3(DICER1):c.5486C>G (p.Thr1829Arg)	CA390864547	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:483420	biolink:SequenceVariant	NM_177438.3(DICER1):c.5470G>C (p.Gly1824Arg)	CA390864581	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:412149	biolink:SequenceVariant	NM_177438.3(DICER1):c.5461A>G (p.Met1821Val)	CA16614591	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825706	biolink:SequenceVariant	NM_177438.3(DICER1):c.5404A>G (p.Ile1802Val)	CA390864732	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825692	biolink:SequenceVariant	NM_177438.3(DICER1):c.5382G>C (p.Glu1794Asp)	CA7330668	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:485537	biolink:SequenceVariant	NM_177438.3(DICER1):c.5375C>G (p.Ser1792Cys)	CA390864803	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825630	biolink:SequenceVariant	NM_177438.3(DICER1):c.5308G>C (p.Asp1770His)	CA390864985	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:483441	biolink:SequenceVariant	NM_177438.3(DICER1):c.5282T>C (p.Val1761Ala)	CA390865041	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:477252	biolink:SequenceVariant	NM_177438.3(DICER1):c.5259C>G (p.Asp1753Glu)	CA390865100	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:804344	biolink:SequenceVariant	NM_000162.5(GCK):c.622G>A (p.Ala208Thr)	CA367401322	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:426122	biolink:SequenceVariant	NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	CA367401530	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:553638	biolink:SequenceVariant	NM_000277.2(PAH):c.307G>T (p.Gly103Cys)	CA6748984	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102594	biolink:SequenceVariant	NM_000277.3:c.125AAG[2]	-	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102765	biolink:SequenceVariant	NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	CA229665	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102903	biolink:SequenceVariant	NM_000277.3(PAH):c.938C>T (p.Ala313Val)	CA229861	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102503	biolink:SequenceVariant	NM_000277.3(PAH):c.1065+39G>T	CA229317	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:552806	biolink:SequenceVariant	NM_000277.3(PAH):c.353-7_353-5dup	CA607158216	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:725756	biolink:SequenceVariant	NM_000277.3(PAH):c.456T>C (p.Pro152=)	CA242485549	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:733267	biolink:SequenceVariant	NM_000277.3(PAH):c.1140G>A (p.Thr380=)	CA6748735	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:755030	biolink:SequenceVariant	NM_000277.3(PAH):c.438C>T (p.His146=)	CA6748956	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:760907	biolink:SequenceVariant	NM_000277.3(PAH):c.198A>G (p.Glu66=)	CA6748999	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:883189	biolink:SequenceVariant	NM_000277.3(PAH):c.786C>T (p.Val262=)	CA242471869	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:991620	biolink:SequenceVariant	NM_000277.3(PAH):c.870T>C (p.His290=)	CA6748812	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:991623	biolink:SequenceVariant	NM_000277.3(PAH):c.420G>A (p.Ala140=)	CA6748958	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:991624	biolink:SequenceVariant	NM_000277.3(PAH):c.222A>G (p.Lys74=)	CA6748996	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:991626	biolink:SequenceVariant	NM_000277.3(PAH):c.60+9C>T	CA6749059	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:251525	biolink:SequenceVariant	NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)	CA10585195	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:441199	biolink:SequenceVariant	NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr)	-	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251526	biolink:SequenceVariant	NM_000527.5(LDLR):c.919G>C (p.Asp307His)	CA10585196	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:523725	biolink:SequenceVariant	NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)	CA404081052	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251527	biolink:SequenceVariant	NM_000527.5(LDLR):c.921T>G (p.Asp307Glu)	CA10585197	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA367401753	biolink:SequenceVariant	NM_033508.3:c.499A>G	CA367401753	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401755	biolink:SequenceVariant	NM_033508.3:c.499A>C	CA367401755	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573102979	biolink:SequenceVariant	NM_001354803.2:c.407_410del	CA2573102979	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367396876	biolink:SequenceVariant	NM_001354803.2:c.392C>A	CA367396876	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397326	biolink:SequenceVariant	NM_001354803.2:c.288-1G>C	CA367397326	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447412	biolink:SequenceVariant	NM_000162.5(GCK):c.646G>A (p.Glu216Lys)	CA4239565	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:16141	biolink:SequenceVariant	NM_000162.5(GCK):c.629T>A (p.Met210Lys)	CA204367	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36236	biolink:SequenceVariant	NM_000162.5(GCK):c.630G>T (p.Met210Ile)	CA213814	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:129143	biolink:SequenceVariant	NM_000162.5(GCK):c.523G>A (p.Gly175Arg)	CA231137	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997770	biolink:SequenceVariant	NM_001354803.2:c.365dup	CA2017997770	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:804835	biolink:SequenceVariant	NM_000162.5(GCK):c.1146C>A (p.Cys382Ter)	CA367398741	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1732973	biolink:SequenceVariant	NM_001306179.2:c.358A>G	CA386959040	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:2574164	biolink:SequenceVariant	NM_001306179.2:c.539C>G	CA386963548	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965806	biolink:SequenceVariant	NM_001306179.2:c.727C>G	CA386965806	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386969831	biolink:SequenceVariant	NM_001306179.2:c.1295C>T	CA386969831	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386969829	biolink:SequenceVariant	NM_001306179.2:c.1295C>G	CA386969829	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386969822	biolink:SequenceVariant	NM_001306179.2:c.1295C>A	CA386969822	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386970356	biolink:SequenceVariant	NM_001306179.2:c.1481C>T	CA386970356	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA409106019	biolink:SequenceVariant	NM_175914.5:c.500A>C	CA409106019	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1744896	biolink:SequenceVariant	NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)	CA409106025	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409107443	biolink:SequenceVariant	NM_175914.5:c.731T>C	CA409107443	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2573106200	biolink:SequenceVariant	NM_175914.5:c.876_877insT	CA2573106200	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108146	biolink:SequenceVariant	NM_175914.5:c.901A>T	CA409108146	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:585923	biolink:SequenceVariant	NM_000162.5(GCK):c.608T>C (p.Val203Ala)	CA367401366	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:804834	biolink:SequenceVariant	NM_000162.5(GCK):c.1136C>T (p.Ala379Val)	CA367398790	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:481178	biolink:SequenceVariant	NM_004360.5(CDH1):c.2474dup (p.Pro826fs)	CA658658499	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:532446	biolink:SequenceVariant	NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)	CA658798634	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:692767	biolink:SequenceVariant	NC_012920.1(MT-CO2):m.7724A>T	CA414793459	HGNC:7421	NCBITaxon:9606	Homo sapiens
CLINVAR:228859	biolink:SequenceVariant	NC_012920.1:m.7502C>T	CA10577185	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:489846	biolink:SequenceVariant	NM_004360.5(CDH1):c.112A>C (p.Thr38Pro)	CA396452065	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:230669	biolink:SequenceVariant	NM_004360.5(CDH1):c.76G>C (p.Glu26Gln)	CA10580068	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:481700	biolink:SequenceVariant	NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr)	CA396462787	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:481692	biolink:SequenceVariant	NM_004360.5(CDH1):c.121G>T (p.Val41Leu)	CA396452116	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:483261	biolink:SequenceVariant	NM_004360.5(CDH1):c.145G>C (p.Gly49Arg)	CA396452267	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:584516	biolink:SequenceVariant	NM_004360.4:c.425A>G	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:220445	biolink:SequenceVariant	NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)	CA347984	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:235370	biolink:SequenceVariant	NC_012920.1(MT-ATP6):m.8803A>T	CA10581289	HGNC:7414	NCBITaxon:9606	Homo sapiens
CLINVAR:377369	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.15848A>G	CA16603354	HGNC:7427	NCBITaxon:9606	Homo sapiens
CLINVAR:439912	biolink:SequenceVariant	NC_012920.1(MT-CO2):m.7637G>A	CA414793083	HGNC:7421	NCBITaxon:9606	Homo sapiens
CLINVAR:428630	biolink:SequenceVariant	NM_004360.5(CDH1):c.1711+5G>A	CA645369681	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:185005	biolink:SequenceVariant	NM_004360.5(CDH1):c.1565+5G>A	CA190759	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:921477	biolink:SequenceVariant	NM_004360.5(CDH1):c.2505T>G (p.Tyr835Ter)	CA396472208	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:428619	biolink:SequenceVariant	NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg)	CA396465435	HGNC:1748	NCBITaxon:9606	Homo sapiens
CA2229914895	biolink:SequenceVariant	NM_001317186.2:c.-1891T>C	CA2229914895	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:21076	biolink:SequenceVariant	NM_000162.5(GCK):c.1133C>T (p.Ala378Val)	CA341585	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:16145	biolink:SequenceVariant	NM_000162.5(GCK):c.1132G>A (p.Ala378Thr)	CA126216	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:972776	biolink:SequenceVariant	NM_000162.5(GCK):c.1133C>G (p.Ala378Gly)	CA367398802	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2575092	biolink:SequenceVariant	NM_000261.2:c.740del	CA1139770963	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:7953	biolink:SequenceVariant	NM_000261.2(MYOC):c.1010A>G (p.Gln337Arg)	CA119177	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724143	biolink:SequenceVariant	NM_000261.2:c.1255A>G	CA343724143	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725177	biolink:SequenceVariant	NM_000261.2:c.997A>T	CA343725177	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343725131	biolink:SequenceVariant	NM_000261.2:c.1008C>T	CA343725131	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA2017997725	biolink:SequenceVariant	NM_000261.2:c.1085del	CA2017997725	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:875033	biolink:SequenceVariant	NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)	CA1244035	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA2573130348	biolink:SequenceVariant	NM_000261.2:c.599del	CA2573130348	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343723562	biolink:SequenceVariant	NM_000261.2:c.1364C>A	CA343723562	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343724581	biolink:SequenceVariant	NM_000261.2:c.1136T>C	CA343724581	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293722	biolink:SequenceVariant	NM_000261.2(MYOC):c.224A>G (p.Gln75Arg)	CA10608781	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293720	biolink:SequenceVariant	NM_000261.2(MYOC):c.304T>A (p.Leu102Met)	CA10608379	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293719	biolink:SequenceVariant	NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)	CA10608378	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:875954	biolink:SequenceVariant	NM_000261.2(MYOC):c.1272G>C (p.Gln424His)	CA1244051	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293721	biolink:SequenceVariant	NM_000261.2(MYOC):c.239C>A (p.Thr80Asn)	CA10608383	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:876999	biolink:SequenceVariant	NM_000261.2(MYOC):c.600A>G (p.Arg200=)	CA421773580	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293714	biolink:SequenceVariant	NM_000261.2(MYOC):c.728C>A (p.Thr243Asn)	CA1244183	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:252960	biolink:SequenceVariant	NM_000261.2(MYOC):c.823A>T (p.Lys275Ter)	CA10586137	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:293713	biolink:SequenceVariant	NM_000261.2(MYOC):c.865G>A (p.Asp289Asn)	CA1244135	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:242274	biolink:SequenceVariant	NM_000261.2(MYOC):c.1111T>C (p.Tyr371His)	CA10583955	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:1324770	biolink:SequenceVariant	NM_000261.2(MYOC):c.604+1G>C	CA343717720	HGNC:7610	NCBITaxon:9606	Homo sapiens
CA343719128	biolink:SequenceVariant	NM_000261.2:c.216T>G	CA343719128	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:631579	biolink:SequenceVariant	NM_000261.2(MYOC):c.343G>T (p.Glu115Ter)	CA343718634	HGNC:7610	NCBITaxon:9606	Homo sapiens
CLINVAR:585908	biolink:SequenceVariant	NM_000162.5(GCK):c.1129C>T (p.Arg377Cys)	CA367398826	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36176	biolink:SequenceVariant	NM_000162.5(GCK):c.1130G>A (p.Arg377His)	CA213715	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447425	biolink:SequenceVariant	NM_000162.5(GCK):c.911T>C (p.Leu304Pro)	CA367400043	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1802685	biolink:SequenceVariant	NM_001354803.2:c.133G>T	CA367398995	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:381598	biolink:SequenceVariant	NM_000162.5(GCK):c.1099G>A (p.Val367Met)	CA16605802	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398947	biolink:SequenceVariant	NM_001354803.2:c.145T>C	CA367398947	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398935	biolink:SequenceVariant	NM_001354803.2:c.146G>A	CA367398935	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447379	biolink:SequenceVariant	NM_000162.5(GCK):c.1113C>G (p.Cys371Trp)	CA367398928	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:129140	biolink:SequenceVariant	NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)	CA152950	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:617645	biolink:SequenceVariant	NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)	CA367398930	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398869	biolink:SequenceVariant	NM_001354803.2:c.155T>A	CA367398869	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2578349	biolink:SequenceVariant	NM_000162.5(GCK):c.898G>C (p.Glu300Gln)	CA367400083	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367396716	biolink:SequenceVariant	NM_001354803.2:c.432A>G	CA367396716	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367396721	biolink:SequenceVariant	NM_001354803.2:c.430T>C	CA367396721	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447423	biolink:SequenceVariant	NM_000162.5(GCK):c.883G>A (p.Gly295Ser)	CA367400140	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400134	biolink:SequenceVariant	NM_033508.3:c.881G>T	CA367400134	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1436793	biolink:SequenceVariant	NM_000162.5(GCK):c.898G>A (p.Glu300Lys)	CA367400084	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:16135	biolink:SequenceVariant	NM_000162.5(GCK):c.781G>A (p.Gly261Arg)	CA126211	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400569	biolink:SequenceVariant	NM_033508.3:c.779G>A	CA367400569	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447418	biolink:SequenceVariant	NM_000162.5(GCK):c.781G>C (p.Gly261Arg)	CA367400571	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:435302	biolink:SequenceVariant	NM_000162.5(GCK):c.775G>A (p.Ala259Thr)	CA367400584	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447417	biolink:SequenceVariant	NM_000162.5(GCK):c.776C>T (p.Ala259Val)	CA367400579	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400582	biolink:SequenceVariant	NM_033508.3:c.772G>T	CA367400582	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36243	biolink:SequenceVariant	NM_000162.5(GCK):c.676G>A (p.Val226Met)	CA213827	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401977	biolink:SequenceVariant	NM_033508.3:c.434T>G	CA367401977	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2428681	biolink:SequenceVariant	NM_000162.5(GCK):c.437T>C (p.Leu146Pro)	CA367401978	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36209	biolink:SequenceVariant	NM_000162.5(GCK):c.214G>A (p.Gly72Arg)	CA213771	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36204	biolink:SequenceVariant	NM_000162.5(GCK):c.146C>A (p.Thr49Asn)	CA213765	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585911	biolink:SequenceVariant	NM_000162.5(GCK):c.127C>T (p.Arg43Cys)	CA367403451	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2497028745	biolink:SequenceVariant	NM_000162.5:c.-97G>A	CA2497028745	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:994902	biolink:SequenceVariant	NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)	CA9870225	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2573106198	biolink:SequenceVariant	NM_175914.5:c.490dup	CA2573106198	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106116	biolink:SequenceVariant	NM_175914.5:c.539C>A	CA409106116	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106207	biolink:SequenceVariant	NM_175914.5:c.561C>G	CA409106207	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1756327	biolink:SequenceVariant	NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)	CA386965290	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972818	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	CA6831957	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1675516	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg)	CA244534392	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:751827	biolink:SequenceVariant	NM_000212.3(ITGB3):c.273G>A (p.Glu91=)	CA8622907	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940958	biolink:SequenceVariant	NM_000212.3:c.2187_2203delinsTCATTGGCTCA	CA915940958	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:323548	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1958C>T (p.Pro653Leu)	CA8602880	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323560	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.945+10A>G	CA10649408	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399801096	biolink:SequenceVariant	NM_000419.5:c.1947-2A>G	CA399801096	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:888905	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile)	CA8603161	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323571	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.230G>A (p.Ser77Asn)	CA10639820	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2578344	biolink:SequenceVariant	NC_000020.11:g.44355624G>T	CA2573102981	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409103809	biolink:SequenceVariant	NM_175914.5:c.125G>T	CA409103809	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:422466	biolink:SequenceVariant	NM_004360.5(CDH1):c.105G>C (p.Glu35Asp)	CA16620230	HGNC:1748	NCBITaxon:9606	Homo sapiens
CA367403541	biolink:SequenceVariant	NM_033508.3:c.107T>G	CA367403541	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:393453	biolink:SequenceVariant	NM_000162.5(GCK):c.128G>A (p.Arg43His)	CA4239718	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:419624	biolink:SequenceVariant	NM_000162.5(GCK):c.184G>A (p.Val62Met)	CA16618472	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573105963	biolink:SequenceVariant	NM_001354803.2:c.380_381del	CA2573105963	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447388	biolink:SequenceVariant	NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)	CA367397316	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398536	biolink:SequenceVariant	NM_001354803.2:c.223C>G	CA367398536	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1301416	biolink:SequenceVariant	NM_000162.5(GCK):c.1174C>G (p.Arg392Gly)	CA367398625	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573051052	biolink:SequenceVariant	NM_175914.5:c.225-21A>G	CA2573051052	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36201	biolink:SequenceVariant	NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)	CA213762	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573102980	biolink:SequenceVariant	NM_001354803.2:c.397dup	CA2573102980	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1365679	biolink:SequenceVariant	NM_000162.5(GCK):c.1340_1368del (p.Arg447fs)	CA838788768	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2017997777	biolink:SequenceVariant	NM_001354803.2:c.382del	CA2017997777	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585915	biolink:SequenceVariant	NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)	CA367396996	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1799350	biolink:SequenceVariant	NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)	CA409104379	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:289356	biolink:SequenceVariant	NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)	CA8815129	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:286228	biolink:SequenceVariant	NM_000152.5(GAA):c.2799+4A>G	CA8815855	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA400025655	biolink:SequenceVariant	NM_000212.3:c.961A>C	CA400025655	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA915940789	biolink:SequenceVariant	NM_000419.5:c.1616_1620delinsGGCAC	CA915940789	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA367397019	biolink:SequenceVariant	NM_001354803.2:c.356C>A	CA367397019	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573106066	biolink:SequenceVariant	NM_001354803.2:c.337_340dup	CA2573106066	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1769182	biolink:SequenceVariant	NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)	CA1139771354	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398252	biolink:SequenceVariant	NM_001354803.2:c.274A>T	CA367398252	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:995102	biolink:SequenceVariant	NM_000162.5(GCK):c.1190G>A (p.Arg397His)	CA367398533	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA4239418	biolink:SequenceVariant	NM_001354803.2:c.223C>T	CA4239418	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447383	biolink:SequenceVariant	NM_000162.5(GCK):c.1142T>A (p.Met381Lys)	CA367398767	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:617652	biolink:SequenceVariant	NM_175914.5(HNF4A):c.582+1G>A	CA409106287	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA315411422	biolink:SequenceVariant	NM_175914.5:c.734G>A	CA315411422	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1098819	biolink:SequenceVariant	NM_000162.5(GCK):c.1139A>C (p.His380Pro)	CA367398780	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1299752	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1del (p.Met1fs)	CA2499225757	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA386966083	biolink:SequenceVariant	NM_001306179.2:c.779C>G	CA386966083	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966081	biolink:SequenceVariant	NM_001306179.2:c.779C>A	CA386966081	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:2581122	biolink:SequenceVariant	NM_000545.8(HNF1A):c.66C>G (p.Ser22Arg)	CA6831658	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959080	biolink:SequenceVariant	NM_001306179.2:c.360G>C	CA386959080	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2580610925	biolink:SequenceVariant	NM_001354803.2:c.288-12_291del	CA2580610925	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36185	biolink:SequenceVariant	NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)	CA213733	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398753	biolink:SequenceVariant	NM_001354803.2:c.178T>G	CA367398753	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1727652	biolink:SequenceVariant	NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)	CA367398819	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:435310	biolink:SequenceVariant	NM_000162.5(GCK):c.824G>T (p.Arg275Leu)	CA367400477	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2581126	biolink:SequenceVariant	NM_033508.3:c.821G>C	CA367400478	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585927	biolink:SequenceVariant	NM_000162.5(GCK):c.823C>T (p.Arg275Cys)	CA4239519	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:323566	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg)	CA10649411	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:890600	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.964C>T (p.His322Tyr)	CA399804764	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940646	biolink:SequenceVariant	NM_000419.5:c.575_576insGACAAG	CA915940646	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:890135	biolink:SequenceVariant	NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn)	CA8623019	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399804774	biolink:SequenceVariant	NM_000419.5:c.959T>C	CA399804774	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:872751	biolink:SequenceVariant	NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)	CA367398811	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:142905	biolink:SequenceVariant	NM_004360.5:c.2439+5_2439+8del	-	HGNC:1748	NCBITaxon:9606	Homo sapiens
CLINVAR:239915	biolink:SequenceVariant	NM_004360.5(CDH1):c.833-9C>G	CA10583413	HGNC:1748	NCBITaxon:9606	Homo sapiens
CA409104369	biolink:SequenceVariant	NM_175914.5:c.302C>A	CA409104369	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:427034	biolink:SequenceVariant	NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)	CA409105430	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:18019	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His)	CA210766	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:627228	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.1315C>A (p.Pro439Thr)	CA343772370	HGNC:775	NCBITaxon:9606	Homo sapiens
CA1139771046	biolink:SequenceVariant	NM_001386306.1:c.614_615del	CA1139771046	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18042	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)	CA210798	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18014	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.236G>A (p.Arg79His)	CA210758	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18034	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.391C>T (p.Leu131Phe)	CA210787	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:627161	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)	CA343774114	HGNC:775	NCBITaxon:9606	Homo sapiens
CA343774795	biolink:SequenceVariant	NM_001386306.1:c.562A>T	CA343774795	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:410384	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.1154-14G>A	CA16609956	HGNC:775	NCBITaxon:9606	Homo sapiens
CA1670972946	biolink:SequenceVariant	NM_001386306.1:c.280_283del	CA1670972946	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18011	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu)	CA210756	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:447399	biolink:SequenceVariant	NM_000162.5(GCK):c.442T>A (p.Phe148Ile)	CA367401967	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401964	biolink:SequenceVariant	NM_033508.3:c.440T>C	CA367401964	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401896	biolink:SequenceVariant	NM_033508.3:c.462G>T	CA367401896	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398808	biolink:SequenceVariant	NM_001354803.2:c.166G>C	CA367398808	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447420	biolink:SequenceVariant	NM_000162.5(GCK):c.802G>A (p.Glu268Lys)	CA367400529	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:43519	biolink:SequenceVariant	NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	CA261418	HGNC:8818	NCBITaxon:9606	Homo sapiens
CLINVAR:37404	biolink:SequenceVariant	NM_007294.4(BRCA1):c.135-1G>T	CA000895	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:17662	biolink:SequenceVariant	NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	CA003783	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:52430	biolink:SequenceVariant	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	CA025321	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:37635	biolink:SequenceVariant	NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)	CA003230	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:55451	biolink:SequenceVariant	NM_007294.4(BRCA1):c.5194-12G>A	CA003343	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:38132	biolink:SequenceVariant	NM_000059.4(BRCA2):c.7977-1G>C	CA025372	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:246362	biolink:SequenceVariant	NM_007294.4(BRCA1):c.442-22_442-13del	CA10584575	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:52475	biolink:SequenceVariant	NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)	CA025410	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:54400	biolink:SequenceVariant	NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	CA001262	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:54467	biolink:SequenceVariant	NM_007294.4(BRCA1):c.212+3A>G	CA001412	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:267530	biolink:SequenceVariant	NM_007294.4(BRCA1):c.4186-1787_4358-1668dup	-	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:55374	biolink:SequenceVariant	NM_007294.4(BRCA1):c.5073A>G (p.Thr1691=)	CA003191	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:431973	biolink:SequenceVariant	NM_000162.5(GCK):c.106C>T (p.Arg36Trp)	CA4239720	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:55392	biolink:SequenceVariant	NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	CA003228	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:267601	biolink:SequenceVariant	NM_007294.4(BRCA1):c.5333-36_5406+400del	CA10602571	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:55607	biolink:SequenceVariant	NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)	CA003681	HGNC:1100	NCBITaxon:9606	Homo sapiens
CLINVAR:9325	biolink:SequenceVariant	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	CA023403	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:219896	biolink:SequenceVariant	NM_000059.4(BRCA2):c.632-3C>G	CA348611	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:52516	biolink:SequenceVariant	NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)	CA025483	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:38215	biolink:SequenceVariant	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	CA025994	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:126203	biolink:SequenceVariant	NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)	CA026041	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:38260	biolink:SequenceVariant	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	CA026270	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:52919	biolink:SequenceVariant	NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)	CA026335	HGNC:1101	NCBITaxon:9606	Homo sapiens
CLINVAR:284886	biolink:SequenceVariant	NM_000152.5(GAA):c.2395C>T (p.His799Tyr)	CA8815726	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:546808	biolink:SequenceVariant	NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)	CA401370051	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:2664365	biolink:SequenceVariant	NM_033508.3:c.820C>G	CA367400479	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA16020951	biolink:SequenceVariant	NM_000277.3:c.1154T>C	CA16020951	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102717	biolink:SequenceVariant	NM_000277.2(PAH):c.512G>C (p.Gly171Ala)	CA229599	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020824	biolink:SequenceVariant	NM_001354304.2:c.594T>G	CA16020824	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:556660	biolink:SequenceVariant	NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)	CA6748887	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020767	biolink:SequenceVariant	NM_001354304.2:c.338_341del	CA16020767	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:21078	biolink:SequenceVariant	NM_000162.5(GCK):c.790G>A (p.Gly264Ser)	CA341589	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA16020835	biolink:SequenceVariant	NM_001354304.2:c.669del	CA16020835	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020974	biolink:SequenceVariant	NM_001354304.2:c.1232C>G	CA16020974	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020726	biolink:SequenceVariant	NM_001354304.2:c.75del	CA16020726	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA367400776	biolink:SequenceVariant	NM_033508.3:c.686G>A	CA367400776	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36244	biolink:SequenceVariant	NM_000162.5(GCK):c.677T>C (p.Val226Ala)	CA213828	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1172896	biolink:SequenceVariant	NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	CA367401189	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:102532	biolink:SequenceVariant	NM_000277.3(PAH):c.1127del (p.Asn376fs)	CA229355	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020918	biolink:SequenceVariant	NM_001354304.2:c.1002C>A	CA16020918	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102635	biolink:SequenceVariant	NM_000277.3(PAH):c.231T>G (p.Tyr77Ter)	CA229493	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:495789	biolink:SequenceVariant	NM_000277.3(PAH):c.226G>T (p.Glu76Ter)	CA16020752	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020717	biolink:SequenceVariant	NM_000277.1:c.47_48dup	CA16020717	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102848	biolink:SequenceVariant	NM_000277.3(PAH):c.810_814del (p.His271fs)	CA229783	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:558132	biolink:SequenceVariant	NM_000277.2(PAH):c.910C>T (p.Gln304Ter)	CA16020892	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102867	biolink:SequenceVariant	NM_000277.2(PAH):c.839_840insT (p.Glu280Aspfs)	CA229810	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102500	biolink:SequenceVariant	NM_000277.2(PAH):c.1063C>T (p.Gln355Ter)	CA229313	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020799	biolink:SequenceVariant	NM_001354304.1:c.478C>T	CA16020799	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:536543	biolink:SequenceVariant	NM_000314.8(PTEN):c.98T>C (p.Ile33Thr)	CA377784441	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:536558	biolink:SequenceVariant	NM_000314.8(PTEN):c.105G>A (p.Met35Ile)	CA377784465	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:323574	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.188+7C>T	CA8603526	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8603504	biolink:SequenceVariant	NM_000419.5:c.286T>A	CA8603504	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1687232	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.409-3C>G	CA915940224	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA500273575	biolink:SequenceVariant	NM_000419.5:c.1392A>G	CA500273575	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:888826	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2471C>G (p.Thr824Ser)	CA8602670	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA913184731	biolink:SequenceVariant	NM_000419.5:c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG	CA913184731	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:888825	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu)	CA8602664	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:888824	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2556G>C (p.Gln852His)	CA399794538	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:428195	biolink:SequenceVariant	NM_000314.8(PTEN):c.46T>C (p.Tyr16His)	CA377781939	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:1334551	biolink:SequenceVariant	NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)	CA377784475	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189400	biolink:SequenceVariant	NM_000314.8(PTEN):c.106G>C (p.Gly36Arg)	CA000283	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:486972	biolink:SequenceVariant	NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)	CA377784477	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:818421	biolink:SequenceVariant	NM_000314.8(PTEN):c.113C>T (p.Pro38Leu)	CA377784501	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:184277	biolink:SequenceVariant	NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)	CA000207	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:1704153	biolink:SequenceVariant	NM_000314.8(PTEN):c.10A>G (p.Ile4Val)	CA377781789	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:1320976	biolink:SequenceVariant	NM_000314.8(PTEN):c.35A>G (p.Asn12Ser)	CA377781898	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:427589	biolink:SequenceVariant	NM_000314.8(PTEN):c.40A>G (p.Arg14Gly)	CA377781914	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428243	biolink:SequenceVariant	NM_000314.8(PTEN):c.44G>C (p.Arg15Thr)	CA377781931	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:280724	biolink:SequenceVariant	NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)	CA10603162	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:943637	biolink:SequenceVariant	NM_000314.8(PTEN):c.91A>G (p.Asn31Asp)	CA377784410	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428266	biolink:SequenceVariant	NM_000314.8(PTEN):c.59G>T (p.Gly20Val)	CA377781994	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:233456	biolink:SequenceVariant	NM_000314.8(PTEN):c.64G>C (p.Asp22His)	CA10578904	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:393451	biolink:SequenceVariant	NM_000162.5(GCK):c.748C>T (p.Arg250Cys)	CA16609268	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:435311	biolink:SequenceVariant	NM_000162.5(GCK):c.749G>A (p.Arg250His)	CA4239531	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA16020760	biolink:SequenceVariant	NM_001354304.2:c.277_280del	CA16020760	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:211073	biolink:SequenceVariant	NM_000162.5(GCK):c.370G>A (p.Asp124Asn)	CA206547	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:555864	biolink:SequenceVariant	NM_000152.5(GAA):c.1437+1G>A	CA401366675	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:4024	biolink:SequenceVariant	NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	CA116598	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:290225	biolink:SequenceVariant	NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)	CA8815176	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189007	biolink:SequenceVariant	NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	CA274247	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:285366	biolink:SequenceVariant	NM_000152.5(GAA):c.726G>A (p.Ala242=)	CA8815004	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA915940648	biolink:SequenceVariant	NM_000212.3:c.1053_1058del	CA915940648	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:323546	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp)	CA8602704	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:888827	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2449-11C>T	CA8602674	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:995104	biolink:SequenceVariant	NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)	CA1139660051	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:995103	biolink:SequenceVariant	NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs)	CA1139660055	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2573106065	biolink:SequenceVariant	NM_001354803.2:c.339dup	CA2573106065	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA1139771343	biolink:SequenceVariant	NM_001354803.2:c.331_334dup	CA1139771343	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397333	biolink:SequenceVariant	NM_001354803.2:c.288-2A>G	CA367397333	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447380	biolink:SequenceVariant	NM_000162.5(GCK):c.1120G>A (p.Val374Met)	CA367398877	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:370043	biolink:SequenceVariant	NC_012920.1:m.1661A>G	CA16040644	HGNC:7500	NCBITaxon:9606	Homo sapiens
CLINVAR:9717	biolink:SequenceVariant	m.5244G>A	CA340940	HGNC:7456	NCBITaxon:9606	Homo sapiens
CLINVAR:1026606	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1379G>A (p.Ser460Asn)	CA410147011	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339811	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3297T>C	CA10650415	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:760913	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1285C>T (p.Leu429=)	CA512341119	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:658195	biolink:SequenceVariant	NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala)	CA410203825	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409809	biolink:SequenceVariant	NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)	CA10014273	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1118048	biolink:SequenceVariant	NM_001754.5(RUNX1):c.706A>G (p.Met236Val)	CA10014371	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1150822	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508+10C>G	CA2499225877	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:961001	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu)	CA410147728	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:415829	biolink:SequenceVariant	NM_001754.5(RUNX1):c.265C>T (p.Leu89=)	CA16616271	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464013	biolink:SequenceVariant	NM_001754.5(RUNX1):c.917G>A (p.Arg306His)	CA10014270	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532665	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)	CA320251280	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:843240	biolink:SequenceVariant	NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln)	CA410207199	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:858424	biolink:SequenceVariant	NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)	CA10014583	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:896170	biolink:SequenceVariant	NM_001754.5(RUNX1):c.736A>G (p.Thr246Ala)	CA410206795	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:937756	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1049C>T (p.Pro350Leu)	CA410148335	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:946753	biolink:SequenceVariant	NM_001754.5(RUNX1):c.268G>A (p.Val90Met)	CA410203747	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:948058	biolink:SequenceVariant	NM_001754.5(RUNX1):c.205G>A (p.Gly69Ser)	CA320642805	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:956926	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1172C>G (p.Ala391Gly)	CA410147876	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:961354	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1382A>T (p.Asn461Ile)	CA410146985	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:966436	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1188C>G (p.Phe396Leu)	CA410147824	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1002421	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1396A>G (p.Met466Val)	CA10014177	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1010850	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1244A>C (p.Gln415Pro)	CA410147680	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1021717	biolink:SequenceVariant	NM_001754.5(RUNX1):c.378T>G (p.Asp126Glu)	CA410202739	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1336352	biolink:SequenceVariant	NM_001754.5(RUNX1):c.59-12_59-11del	CA10014636	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1378669	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1289C>T (p.Pro430Leu)	CA410147494	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1439341	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1397T>G (p.Met466Arg)	CA410146845	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1465820	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1336C>G (p.Leu446Val)	CA410147293	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1652693	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1242C>T (p.Tyr414=)	CA512341192	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1704949	biolink:SequenceVariant	NM_001754.5(RUNX1):c.489dup (p.Val164fs)	CA2579914604	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1721570	biolink:SequenceVariant	NM_001754.5(RUNX1):c.590T>C (p.Val197Ala)	CA410207979	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2001260	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1247T>C (p.Phe416Ser)	CA410147666	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2060834	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1051G>A (p.Gly351Ser)	CA410148333	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2061265	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1353C>G (p.Asp451Glu)	CA10014182	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2073628	biolink:SequenceVariant	NM_001754.5(RUNX1):c.310A>G (p.Thr104Ala)	CA410203539	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2418762	biolink:SequenceVariant	NM_001754.5(RUNX1):c.143G>A (p.Ser48Asn)	CA10014586	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2422003	biolink:SequenceVariant	NM_001754.5(RUNX1):c.227G>C (p.Arg76Pro)	CA410203853	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1068986	biolink:SequenceVariant	NM_001754.5(RUNX1):c.713_726del (p.Val238fs)	CA2499225879	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA367403551	biolink:SequenceVariant	NM_033508.3:c.106A>G	CA367403551	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402684	biolink:SequenceVariant	NM_033508.3:c.320A>G	CA367402684	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA4239602	biolink:SequenceVariant	NM_033508.3:c.562A>G	CA4239602	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398804	biolink:SequenceVariant	NM_001354803.2:c.167C>A	CA367398804	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402580	biolink:SequenceVariant	NM_033508.3:c.347G>T	CA367402580	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398628	biolink:SequenceVariant	NM_001354803.2:c.208C>A	CA367398628	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1709730	biolink:SequenceVariant	NM_000162.5(GCK):c.1270C>T (p.His424Tyr)	CA367397245	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367396980	biolink:SequenceVariant	NM_001354803.2:c.365G>A	CA367396980	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:432386	biolink:SequenceVariant	NM_000162.5(GCK):c.824G>A (p.Arg275His)	CA4239518	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:994613	biolink:SequenceVariant	NM_000162.5(GCK):c.884G>A (p.Gly295Asp)	CA367400135	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399681	biolink:SequenceVariant	NM_033508.3:c.1016+1G>A	CA367399681	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399678	biolink:SequenceVariant	NM_033508.3:c.1016+1G>T	CA367399678	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA913189165	biolink:SequenceVariant	NM_033508.3:c.1016+5G>A	CA913189165	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2580617739	biolink:SequenceVariant	NM_001354803.2:c.332_343del	CA2580617739	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36239	biolink:SequenceVariant	NM_000162.5(GCK):c.658T>C (p.Cys220Arg)	CA213820	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36233	biolink:SequenceVariant	NM_000162.5(GCK):c.605T>C (p.Met202Thr)	CA213810	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1490297	biolink:SequenceVariant	NM_000162.5(GCK):c.503C>T (p.Thr168Ile)	CA367401750	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:995372	biolink:SequenceVariant	NM_000162.5(GCK):c.736G>A (p.Gly246Arg)	CA367400665	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:804856	biolink:SequenceVariant	NM_000162.5(GCK):c.737G>C (p.Gly246Ala)	CA367400661	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401545	biolink:SequenceVariant	NM_033508.3:c.564C>G	CA367401545	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:198397	biolink:SequenceVariant	NM_000162.5(GCK):c.688T>C (p.Cys230Arg)	CA247034	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:9212	biolink:SequenceVariant	NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)	CA120206	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36190	biolink:SequenceVariant	NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)	CA213742	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1496579	biolink:SequenceVariant	NM_000162.5(GCK):c.349G>C (p.Gly117Arg)	CA367402585	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399833	biolink:SequenceVariant	NM_033508.3:c.973A>C	CA367399833	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:846588	biolink:SequenceVariant	NM_000545.8(HNF1A):c.526+1G>A	CA386960865	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338446	biolink:SequenceVariant	NM_000545.8(HNF1A):c.526+1G>C	CA386960848	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1746441	biolink:SequenceVariant	NM_001306179.2:c.526+1G>T	CA386960844	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA367400539	biolink:SequenceVariant	NM_033508.3:c.794T>C	CA367400539	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400540	biolink:SequenceVariant	NM_033508.3:c.794T>A	CA367400540	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:995101	biolink:SequenceVariant	NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)	CA367398670	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA409106102	biolink:SequenceVariant	NM_175914.5:c.536G>C	CA409106102	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106099	biolink:SequenceVariant	NM_175914.5:c.535T>C	CA409106099	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:456370	biolink:SequenceVariant	NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)	CA8815197	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:632823	biolink:SequenceVariant	NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)	CA401369859	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:289367	biolink:SequenceVariant	NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)	CA10606426	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:2151633	biolink:SequenceVariant	NM_000152.5(GAA):c.546+5G>A	CA8814900	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:555820	biolink:SequenceVariant	NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)	CA401364951	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371622	biolink:SequenceVariant	NM_000152.4(GAA):c.-32-3C>A	CA16041878	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA367401747	biolink:SequenceVariant	NM_033508.3:c.500C>A	CA367401747	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585921	biolink:SequenceVariant	NM_000162.5(GCK):c.466C>T (p.His156Tyr)	CA367401892	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401907	biolink:SequenceVariant	NM_033508.3:c.458T>G	CA367401907	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585917	biolink:SequenceVariant	NM_000162.5(GCK):c.185T>C (p.Val62Ala)	CA367403278	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403544	biolink:SequenceVariant	NM_033508.3:c.107T>C	CA367403544	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367358349	biolink:SequenceVariant	NM_000162.5:c.3G>A	CA367358349	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:561231	biolink:SequenceVariant	NM_001754.5(RUNX1):c.292del (p.Leu98fs)	CA512318852	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684431	biolink:SequenceVariant	NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs)	CA2573157348	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1706546	biolink:SequenceVariant	NM_001754.5(RUNX1):c.590_597del (p.Val197fs)	CA2580098634	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1073884	biolink:SequenceVariant	NM_001754.5(RUNX1):c.601dup (p.Arg201fs)	CA913189266	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:945290	biolink:SequenceVariant	NM_001754.5(RUNX1):c.967+2_967+5del	CA645614125	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988837	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+1G>T	CA410203333	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1074523	biolink:SequenceVariant	NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs)	CA2499225875	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2123057	biolink:SequenceVariant	NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)	CA410150356	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:647118	biolink:SequenceVariant	NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs)	CA915952644	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684407	biolink:SequenceVariant	NM_001754.5(RUNX1):c.802C>T (p.Gln268Ter)	CA410206653	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1691247	biolink:SequenceVariant	NM_001754.5(RUNX1):c.735del (p.Thr246fs)	CA913189268	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1691248	biolink:SequenceVariant	NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter)	CA410150178	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:978818	biolink:SequenceVariant	NM_001754.5(RUNX1):c.166_196del (p.Leu56fs)	CA913189256	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988416	biolink:SequenceVariant	NM_001754.5(RUNX1):c.270dup (p.Arg91fs)	CA1139666850	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1013619	biolink:SequenceVariant	NM_001754.5(RUNX1):c.165dup (p.Leu56fs)	CA2387297219	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1071785	biolink:SequenceVariant	NM_001754.5(RUNX1):c.777dup (p.Asn260Ter)	CA891842383	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1692643	biolink:SequenceVariant	NM_001754.5(RUNX1):c.259_260dup (p.Glu88fs)	CA2573157362	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:417476	biolink:SequenceVariant	NC_000021.9:g.(?_34787801)_(35048958_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1460018	biolink:SequenceVariant	NM_001754.5(RUNX1):c.637del (p.Gln213fs)	CA1139771066	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:832666	biolink:SequenceVariant	NC_000021.9:g.(?_34799291)_(35049298_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1073907	biolink:SequenceVariant	NM_001754.5(RUNX1):c.247dup (p.Ala83fs)	CA2499225883	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:833071	biolink:SequenceVariant	NC_000021.9:g.(?_34880547)_(34880723_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:871175	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1216del (p.Tyr406fs)	CA1139666838	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1065583	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)	CA2499225871	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:389962	biolink:SequenceVariant	NM_001754.5(RUNX1):c.280A>C (p.Ser94Arg)	CA16608536	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1518631	biolink:SequenceVariant	NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn)	CA410203418	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988808	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508+1G>T	CA410202461	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561250	biolink:SequenceVariant	NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn)	CA410207998	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410207975	biolink:SequenceVariant	NM_001754.5:c.592G>T	CA410207975	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561251	biolink:SequenceVariant	NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala)	CA410207974	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA2573320718	biolink:SequenceVariant	NM_001754.5:c.968del	CA2573320718	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2011850	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-2A>G	CA410204329	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2003897	biolink:SequenceVariant	NM_001754.5(RUNX1):c.782dup (p.Gln262fs)	CA1611067988	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2014537	biolink:SequenceVariant	NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)	CA2580098631	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2504110	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561234	biolink:SequenceVariant	NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn)	CA410203419	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338536	biolink:SequenceVariant	NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys)	CA410203489	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2129871	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)	CA2580098650	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:836448	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1036dup (p.Arg346fs)	CA645614106	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1996223	biolink:SequenceVariant	NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)	CA2580098829	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2177591	biolink:SequenceVariant	NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)	CA410207939	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1703793	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1363del (p.Ala455fs)	CA2580098636	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1349747	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs)	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:812913	biolink:SequenceVariant	NC_000021.8:g.35304341_36865875del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1067688	biolink:SequenceVariant	NC_000021.8:g.(?_36231761)_(36231885_?)del	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:627152	biolink:SequenceVariant	NM_001754.5(RUNX1):c.861C>G (p.Tyr287Ter)	CA410150112	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1074352	biolink:SequenceVariant	NM_001754.5(RUNX1):c.664dup (p.Ser222fs)	CA645608283	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1013200	biolink:SequenceVariant	GRCh37/hg19 21q22.12(chr21:36164432-36421257)x1	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:640550	biolink:SequenceVariant	NM_000314.8:c.152ATG[1]	-	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189402	biolink:SequenceVariant	NM_000314.8(PTEN):c.182A>G (p.His61Arg)	CA000332	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:373446	biolink:SequenceVariant	NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)	CA16042720	HGNC:9588	NCBITaxon:9606	Homo sapiens
CA367402681	biolink:SequenceVariant	NM_033508.3:c.321C>A	CA367402681	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585918	biolink:SequenceVariant	NM_000162.5(GCK):c.322T>C (p.Tyr108His)	CA367402690	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA1703634895	biolink:SequenceVariant	NM_033508.3:c.808_810del	CA1703634895	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA16621927	biolink:SequenceVariant	NM_001306179.2:c.697G>C	CA16621927	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:280031	biolink:SequenceVariant	NM_000314.8(PTEN):c.634+5G>A	CA10603167	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:2073656	biolink:SequenceVariant	NM_000212.3(ITGB3):c.598G>A (p.Glu200Lys)	CA8622990	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:450754	biolink:SequenceVariant	NM_000212.3(ITGB3):c.62C>T (p.Ala21Val)	CA8622838	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:890134	biolink:SequenceVariant	NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe)	CA8622917	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1684324	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)	CA2573153942	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1048589	biolink:SequenceVariant	NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	CA401327377	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1348299	biolink:SequenceVariant	NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)	CA401369854	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:456402	biolink:SequenceVariant	NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)	CA8815746	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:593593	biolink:SequenceVariant	NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)	CA401370504	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:664582	biolink:SequenceVariant	NM_000152.5(GAA):c.671G>A (p.Arg224Gln)	CA8814958	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:285589	biolink:SequenceVariant	NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	CA10605170	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:510585	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1064-19C>A	CA658799363	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447518	biolink:SequenceVariant	NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro)	CA409106752	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:972785	biolink:SequenceVariant	NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)	CA409106746	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:586019	biolink:SequenceVariant	NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg)	CA409106762	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:133249	biolink:SequenceVariant	NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	CA229678	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102688	biolink:SequenceVariant	NM_000277.1(PAH):c.466G>C (p.Ala156Pro)	CA229562	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:188933	biolink:SequenceVariant	NM_000277.3(PAH):c.113_115TCT[1] (p.Phe39del)	-	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020772	biolink:SequenceVariant	NM_000277.3:c.353-2A>T	CA16020772	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102639	biolink:SequenceVariant	NM_000277.2(PAH):c.250G>T (p.Asp84Tyr)	CA229500	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020833	biolink:SequenceVariant	NM_000277.1:c.510-19_667del	CA16020833	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA10602335	biolink:SequenceVariant	NM_000277.1:c.971T>A	CA10602335	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:1458264	biolink:SequenceVariant	NM_000277.1:c.935G>T	CA16020902	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102899	biolink:SequenceVariant	NM_000277.1(PAH):c.929C>T (p.Ser310Phe)	CA229855	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102896	biolink:SequenceVariant	NM_000277.1(PAH):c.922C>T (p.Leu308Phe)	CA229851	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102586	biolink:SequenceVariant	NM_000277.2(PAH):c.1301C>A (p.Ala434Asp)	CA229427	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102907	biolink:SequenceVariant	NM_000277.1(PAH):c.941C>A (p.Pro314His)	CA229867	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102904	biolink:SequenceVariant	NM_000277.1(PAH):c.940C>A (p.Pro314Thr)	CA229863	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102912	biolink:SequenceVariant	NM_000277.1(PAH):c.964G>A (p.Ala322Thr)	CA229875	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:623	biolink:SequenceVariant	NM_000277.1(PAH):c.1066-3C>T	CA229324	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:439226	biolink:SequenceVariant	NM_000277.3(PAH):c.1316-2A>G	CA6748680	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:689636	biolink:SequenceVariant	NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)	CA409109840	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA367396714	biolink:SequenceVariant	NM_001354803.2:c.432A>T	CA367396714	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403522	biolink:SequenceVariant	NM_033508.3:c.110A>T	CA367403522	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:420070	biolink:SequenceVariant	NM_000162.5(GCK):c.113A>C (p.Gln38Pro)	CA16618475	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:129142	biolink:SequenceVariant	NM_000162.5(GCK):c.449T>A (p.Phe150Tyr)	CA231135	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:439709	biolink:SequenceVariant	NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)	CA045974	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1083041	biolink:SequenceVariant	NM_005249.5(FOXG1):c.953A>T (p.His318Leu)	CA389476217	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:1125979	biolink:SequenceVariant	NM_005249.5(FOXG1):c.699G>T (p.Leu233=)	CA486098749	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:224133	biolink:SequenceVariant	NM_001083962.2(TCF4):c.850C>T (p.His284Tyr)	CA357196	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:502478	biolink:SequenceVariant	NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)	CA392342805	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:932847	biolink:SequenceVariant	NM_000018.4:c.926_927del	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CA415087450	biolink:SequenceVariant	NM_001142805.2:c.1391A>G	CA415087450	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:203574	biolink:SequenceVariant	NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)	CA312255	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:11698	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:429893	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)	CA10558465	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:421767	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.644+3_644+6del	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1319163	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.239G>A (p.Arg80His)	CA10360227	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:328352	biolink:SequenceVariant	NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)	CA10651554	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:16466	biolink:SequenceVariant	NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)	CA012160	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:155951	biolink:SequenceVariant	NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs)	CA333316	HGNC:12496	NCBITaxon:9606	Homo sapiens
CA2579985999	biolink:SequenceVariant	NM_001142805.2:c.1205_1218del	CA2579985999	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:956400	biolink:SequenceVariant	NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)	CA269554328	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:2412845	biolink:SequenceVariant	NM_138924.3:c.48C>A	CA402998364	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:65692	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)	CA345034	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:932737	biolink:SequenceVariant	NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)	CA397723428	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:636961	biolink:SequenceVariant	NM_000138.5(FBN1):c.7330+3_7330+6del	CA915946630	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:867228	biolink:SequenceVariant	NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)	CA397723957	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:858462	biolink:SequenceVariant	NM_000156.6(GAMT):c.11_36dup (p.Gly13fs)	CA631301057	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:572229	biolink:SequenceVariant	NM_000018.4(ACADVL):c.809del (p.Pro270fs)	CA891844264	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:549451	biolink:SequenceVariant	NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)	CA658824381	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA397723375	biolink:SequenceVariant	NM_001270448.2:c.415T>C	CA397723375	HGNC:92	NCBITaxon:9606	Homo sapiens
CA2580610966	biolink:SequenceVariant	NM_001142805.2:c.1562_1609dup	CA2580610966	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415090844	biolink:SequenceVariant	NM_001142805.2:c.1651G>C	CA415090844	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:549178	biolink:SequenceVariant	NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)	CA658824437	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:2138184	biolink:SequenceVariant	NM_138924.3:c.152A>C	CA402998053	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1387019	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro)	CA412352120	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:495563	biolink:SequenceVariant	NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)	CA392339186	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:477251	biolink:SequenceVariant	NM_177438.3(DICER1):c.5257G>A (p.Asp1753Asn)	CA390865107	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:2419155	biolink:SequenceVariant	NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)	CA402998096	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:374123	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	CA8338089	HGNC:92	NCBITaxon:9606	Homo sapiens
CA415084391	biolink:SequenceVariant	NM_001142805.2:c.913-1G>A	CA415084391	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:420991	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.912G>C (p.Gln304His)	CA16621223	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA397723872	biolink:SequenceVariant	NM_001270448.2:c.649C>T	CA397723872	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:11696	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)	CA256009	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:516841	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del)	CA10558490	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:549024	biolink:SequenceVariant	NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)	CA392342185	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:804917	biolink:SequenceVariant	NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)	CA409107447	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:695019	biolink:SequenceVariant	NM_000156.6(GAMT):c.145del (p.Tyr49fs)	CA631301060	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:549476	biolink:SequenceVariant	NM_000138.5(FBN1):c.989-1G>C	CA392347946	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:661301	biolink:SequenceVariant	NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg)	CA390864683	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:163461	biolink:SequenceVariant	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	CA017544	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA415090882	biolink:SequenceVariant	NM_001142805.2:c.1669T>C	CA415090882	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415086484	biolink:SequenceVariant	NM_001142805.2:c.1180G>C	CA415086484	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:254305	biolink:SequenceVariant	NM_177438.3(DICER1):c.2236A>G (p.Arg746Gly)	CA10586443	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:549013	biolink:SequenceVariant	NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)	CA269559072	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:548999	biolink:SequenceVariant	NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)	CA043398	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA415088445	biolink:SequenceVariant	NM_001142805.2:c.1524G>A	CA415088445	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2580610965	biolink:SequenceVariant	NM_001142805.2:c.1526_1527insTTTC	CA2580610965	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA8338094	biolink:SequenceVariant	NM_001270448.2:c.1183T>C	CA8338094	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:200193	biolink:SequenceVariant	NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)	CA016495	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:932846	biolink:SequenceVariant	NM_000018.4:c.856_857del	-	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:636640	biolink:SequenceVariant	NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)	CA392343867	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:429431	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg)	CA412355889	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:178034	biolink:SequenceVariant	NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	CA017250	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:544257	biolink:SequenceVariant	NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	CA9043669	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:549229	biolink:SequenceVariant	NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)	CA392354459	HGNC:3603	NCBITaxon:9606	Homo sapiens
CA402996857	biolink:SequenceVariant	NM_138924.3:c.233T>A	CA402996857	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:554546	biolink:SequenceVariant	NM_000018.4(ACADVL):c.932del (p.Phe311fs)	CA8337906	HGNC:92	NCBITaxon:9606	Homo sapiens
CA915940477	biolink:SequenceVariant	NM_001142805.2:c.878_879del	CA915940477	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:588631	biolink:SequenceVariant	NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)	CA402998326	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:646976	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1678+3_1678+6del	CA8338202	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932789	biolink:SequenceVariant	NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)	CA397723258	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:522433	biolink:SequenceVariant	NM_000018.4(ACADVL):c.864del (p.Phe288fs)	CA658798685	HGNC:92	NCBITaxon:9606	Homo sapiens
CA402996840	biolink:SequenceVariant	NM_138924.3:c.235C>T	CA402996840	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:549001	biolink:SequenceVariant	NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)	CA392347578	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1703957	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)	CA2580101804	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:477250	biolink:SequenceVariant	NM_177438.3(DICER1):c.5248G>A (p.Val1750Ile)	CA390865129	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1143525	biolink:SequenceVariant	NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)	CA518490677	HGNC:11079	NCBITaxon:9606	Homo sapiens
CLINVAR:406288	biolink:SequenceVariant	NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe)	CA16614674	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:818179	biolink:SequenceVariant	NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)	CA402994533	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:11700	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)	CA256012	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1003911	biolink:SequenceVariant	NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)	CA402528894	HGNC:11634	NCBITaxon:9606	Homo sapiens
CA415087684	biolink:SequenceVariant	NM_001142805.2:c.1426C>T	CA415087684	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:892468	biolink:SequenceVariant	NM_000018.4(ACADVL):c.201G>A (p.Lys67=)	CA8337582	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:706747	biolink:SequenceVariant	NM_000018.4(ACADVL):c.216C>T (p.Ser72=)	CA8337602	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:2421360	biolink:SequenceVariant	NM_138924.3:c.522G>C	CA402994365	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA402991093	biolink:SequenceVariant	NM_000156.6:c.571G>A	CA402991093	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:180355	biolink:SequenceVariant	NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)	CA015164	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1325422	biolink:SequenceVariant	NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr)	CA392354488	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495609	biolink:SequenceVariant	NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup)	CA658683899	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:155793	biolink:SequenceVariant	NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)	CA015021	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:222604	biolink:SequenceVariant	NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	CA353655	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:449440	biolink:SequenceVariant	NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)	CA392317779	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:626882	biolink:SequenceVariant	NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)	CA392320410	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495599	biolink:SequenceVariant	NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr)	CA392324303	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495594	biolink:SequenceVariant	NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)	CA392324980	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549169	biolink:SequenceVariant	NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)	CA392325203	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:263660	biolink:SequenceVariant	NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)	CA10587839	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:928903	biolink:SequenceVariant	NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)	CA392326412	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:222600	biolink:SequenceVariant	NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)	CA353680	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549150	biolink:SequenceVariant	NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)	CA392327231	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:915814	biolink:SequenceVariant	NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)	CA392332017	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:264089	biolink:SequenceVariant	NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)	CA10587846	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549070	biolink:SequenceVariant	NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)	CA392335588	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:519758	biolink:SequenceVariant	NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg)	CA392335589	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:98872	biolink:SequenceVariant	NM_000329.3(RPE65):c.495+1dup	CA226556	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:13114	biolink:SequenceVariant	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	CA226577	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98880	biolink:SequenceVariant	NM_000329.3(RPE65):c.615_616del (p.Ile206fs)	CA226567	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:660359	biolink:SequenceVariant	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	CA902254	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98899	biolink:SequenceVariant	NM_000329.3(RPE65):c.95-2A>T	CA226591	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98825	biolink:SequenceVariant	NM_000329.3(RPE65):c.11+5G>A	CA226483	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1067786	biolink:SequenceVariant	NM_000329.3(RPE65):c.496-1G>A	CA340747238	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:13117	biolink:SequenceVariant	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	CA256730	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1070755	biolink:SequenceVariant	NM_000329.3(RPE65):c.886dup (p.Arg296fs)	CA902351	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1380036	biolink:SequenceVariant	NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)	CA392448448	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:547296	biolink:SequenceVariant	NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)	CA392448489	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:555394	biolink:SequenceVariant	NM_000018.4(ACADVL):c.62+18G>A	CA8337527	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1023481	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.191_193del (p.Ser64del)	CA2466435899	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA402998134	biolink:SequenceVariant	NM_138924.3:c.115A>G	CA402998134	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:854099	biolink:SequenceVariant	NM_000156.6(GAMT):c.328-2A>G	CA402995925	HGNC:4136	NCBITaxon:9606	Homo sapiens
CA415087966	biolink:SequenceVariant	NM_001142805.2:c.1465+2T>G	CA415087966	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415090808	biolink:SequenceVariant	NM_001142805.2:c.1637G>A	CA415090808	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2580610964	biolink:SequenceVariant	NM_001142805.2:c.1465+5G>C	CA2580610964	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:618516	biolink:SequenceVariant	NM_000022.4(ADA):c.757C>T (p.Arg253Trp)	CA9871538	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:338506	biolink:SequenceVariant	NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	CA9871547	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1966	biolink:SequenceVariant	NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	CA115285	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:968664	biolink:SequenceVariant	NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)	CA331121466	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:419664	biolink:SequenceVariant	NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr)	CA16621484	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:418256	biolink:SequenceVariant	NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser)	CA16621485	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:804024	biolink:SequenceVariant	NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)	CA10443891	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:505549	biolink:SequenceVariant	NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)	CA636174167	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1979	biolink:SequenceVariant	NM_000022.4(ADA):c.454C>A (p.Leu152Met)	CA115292	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:68264	biolink:SequenceVariant	NM_000022.4(ADA):c.445C>T (p.Arg149Trp)	CA266014	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1963	biolink:SequenceVariant	NM_000022.4(ADA):c.446G>A (p.Arg149Gln)	CA115281	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:468281	biolink:SequenceVariant	NM_000022.4(ADA):c.703C>T (p.Arg235Trp)	CA9871550	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1075328	biolink:SequenceVariant	NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)	CA409121739	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1957	biolink:SequenceVariant	NM_000022.4(ADA):c.632G>A (p.Arg211His)	CA252000	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:550821	biolink:SequenceVariant	NM_000022.4(ADA):c.396dup (p.Val133fs)	CA658824668	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1473380	biolink:SequenceVariant	NM_000022.4(ADA):c.363-2A>G	CA409121257	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1969	biolink:SequenceVariant	NM_000022.4(ADA):c.219-2A>G	CA252010	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:254216	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)	CA10586372	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:986350	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	CA376060149	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1713265	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	CA376061171	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1069380	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	CA376065954	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:254217	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile)	CA10586373	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1679474	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.973-1801T>A	CA203388902	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1696158	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.247-1G>C	CA376062491	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:804345	biolink:SequenceVariant	NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)	CA3231898	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:353259	biolink:SequenceVariant	NM_002185.5(IL7R):c.83-2A>T	CA10624373	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:36392	biolink:SequenceVariant	NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)	CA214043	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:224841	biolink:SequenceVariant	NM_002185.5(IL7R):c.361dup (p.Ile121fs)	CA357950	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:578174	biolink:SequenceVariant	NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)	CA359431210	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:2187538	biolink:SequenceVariant	NM_002185.5(IL7R):c.82+14A>T	CA116953176	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:14841	biolink:SequenceVariant	NM_002185.5(IL7R):c.538-1G>A	CA359430531	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:1034220	biolink:SequenceVariant	NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer)	CA1139532300	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:304491	biolink:SequenceVariant	NM_000448.3(RAG1):c.1A>G (p.Met1Val)	CA5949886	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:285045	biolink:SequenceVariant	NM_000448.3(RAG1):c.256_257del (p.Lys86fs)	CA5949936	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:372487	biolink:SequenceVariant	NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)	CA5950000	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:626157	biolink:SequenceVariant	NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)	CA5949977	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:235411	biolink:SequenceVariant	NM_000448.3(RAG1):c.775del (p.Ser259fs)	CA10581303	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:68681	biolink:SequenceVariant	NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)	CA219800	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:496630	biolink:SequenceVariant	NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg)	CA380140542	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:13133	biolink:SequenceVariant	NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	CA122861	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:1075544	biolink:SequenceVariant	NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	CA1964194540	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:13130	biolink:SequenceVariant	NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	CA122854	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:500475	biolink:SequenceVariant	NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)	CA220579698	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:36719	biolink:SequenceVariant	NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)	CA214218	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:1412375	biolink:SequenceVariant	NM_000536.4(RAG2):c.130G>T (p.Gly44Ter)	CA380144505	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:13138	biolink:SequenceVariant	NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)	CA122872	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:427020	biolink:SequenceVariant	NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	CA380144219	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:624608	biolink:SequenceVariant	NM_000215.4(JAK3):c.1796T>G (p.Val599Gly)	-	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:36415	biolink:SequenceVariant	NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)	CA214079	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:891294	biolink:SequenceVariant	NM_000215.4(JAK3):c.896T>C (p.Val299Ala)	CA9302036	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:81020	biolink:SequenceVariant	NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)	CA306136434	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:36423	biolink:SequenceVariant	NM_000215.4(JAK3):c.678_679del (p.Cys227fs)	CA214096	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:644288	biolink:SequenceVariant	NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter)	CA306130937	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:1999662	biolink:SequenceVariant	NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)	CA404774961	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:2048620	biolink:SequenceVariant	NM_000215.4(JAK3):c.1915-1G>A	CA404768497	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:2054022	biolink:SequenceVariant	NM_000215.4(JAK3):c.2680+89G>A	CA2580096763	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:962267	biolink:SequenceVariant	NM_000206.3(IL2RG):c.924G>A (p.Ser308=)	CA516771304	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:372386	biolink:SequenceVariant	NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)	CA16043285	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:280035	biolink:SequenceVariant	NM_000206.3(IL2RG):c.924+1G>A	CA10603688	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:225195	biolink:SequenceVariant	NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)	CA358784	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:10027	biolink:SequenceVariant	NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)	CA120885	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:837417	biolink:SequenceVariant	NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)	CA10443749	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:532191	biolink:SequenceVariant	NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr)	CA10443808	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1559662	biolink:SequenceVariant	NM_000206.3(IL2RG):c.924+9G>T	CA641945097	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1368945	biolink:SequenceVariant	NM_000206.3(IL2RG):c.115+2T>C	CA413497546	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:633274	biolink:SequenceVariant	NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg)	CA413495953	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:690455	biolink:SequenceVariant	NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu)	CA390865284	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:932987	biolink:SequenceVariant	NM_177438.3(DICER1):c.5113G>A (p.Glu1705Lys)	CA390865421	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825366	biolink:SequenceVariant	NM_177438.3(DICER1):c.5007T>G (p.Phe1669Leu)	CA390866114	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:477225	biolink:SequenceVariant	NM_177438.3(DICER1):c.4874C>T (p.Ser1625Phe)	CA390866574	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825165	biolink:SequenceVariant	NM_177438.3(DICER1):c.4775C>T (p.Pro1592Leu)	CA390867215	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:577152	biolink:SequenceVariant	NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile)	CA390868420	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:939082	biolink:SequenceVariant	NM_177438.3(DICER1):c.4313A>G (p.Tyr1438Cys)	CA390869397	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:933119	biolink:SequenceVariant	NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu)	CA390866465	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:30566	biolink:SequenceVariant	NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe)	CA129336	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:36212	biolink:SequenceVariant	NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)	CA213777	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402683	biolink:SequenceVariant	NM_033508.3:c.320A>T	CA367402683	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447411	biolink:SequenceVariant	NM_000162.5(GCK):c.623C>T (p.Ala208Val)	CA4239569	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:804852	biolink:SequenceVariant	NM_000162.5(GCK):c.629T>C (p.Met210Thr)	CA367401300	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401193	biolink:SequenceVariant	NM_033508.3:c.656G>T	CA367401193	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1807279	biolink:SequenceVariant	NM_000162.5(GCK):c.167A>C (p.Lys56Thr)	CA367403326	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:995373	biolink:SequenceVariant	NM_000162.5(GCK):c.737G>A (p.Gly246Glu)	CA367400662	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367397094	biolink:SequenceVariant	NM_001354803.2:c.340A>T	CA367397094	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447381	biolink:SequenceVariant	NM_000162.5(GCK):c.1133_1149del (p.Ala378fs)	CA658655962	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36174	biolink:SequenceVariant	NM_000162.5(GCK):c.1114G>T (p.Glu372Ter)	CA213711	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:418228	biolink:SequenceVariant	NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)	CA16618466	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2580612100	biolink:SequenceVariant	NM_001354803.2:c.178del	CA2580612100	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401296	biolink:SequenceVariant	NM_033508.3:c.627G>A	CA367401296	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401320	biolink:SequenceVariant	NM_033508.3:c.619G>C	CA367401320	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401688	biolink:SequenceVariant	NM_033508.3:c.518C>T	CA367401688	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA9870415	biolink:SequenceVariant	NM_175914.5:c.938G>T	CA9870415	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108291	biolink:SequenceVariant	NM_175914.5:c.937G>A	CA409108291	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36346	biolink:SequenceVariant	NM_175914.5(HNF4A):c.*4G>A	CA213920	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1299754	biolink:SequenceVariant	NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter)	CA409109938	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447521	biolink:SequenceVariant	NM_175914.5(HNF4A):c.724del (p.Val242fs)	CA658658870	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA386964742	biolink:SequenceVariant	NM_001306179.2:c.646C>T	CA386964742	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964799	biolink:SequenceVariant	NM_001306179.2:c.653A>G	CA386964799	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2580611076	biolink:SequenceVariant	NM_001306179.2:c.675del	CA2580611076	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965032	biolink:SequenceVariant	NM_001306179.2:c.676A>G	CA386965032	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2580611120	biolink:SequenceVariant	NM_001306179.2:c.682dup	CA2580611120	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2580611121	biolink:SequenceVariant	NM_001306179.2:c.690_691del	CA2580611121	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965309	biolink:SequenceVariant	NM_001306179.2:c.697G>T	CA386965309	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960641	biolink:SequenceVariant	NM_001306179.2:c.503G>C	CA386960641	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960737	biolink:SequenceVariant	NM_001306179.2:c.517G>A	CA386960737	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:897015	biolink:SequenceVariant	NM_000022.4(ADA):c.941A>G (p.Asp314Gly)	CA9871460	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:2088001	biolink:SequenceVariant	NM_000022.4(ADA):c.1078+2T>C	CA409118267	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:558340	biolink:SequenceVariant	NM_000022.4(ADA):c.1078+2T>A	CA409118270	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1505857	biolink:SequenceVariant	NM_000022.4(ADA):c.890C>T (p.Pro297Leu)	CA9871472	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:402341	biolink:SequenceVariant	NM_000022.4(ADA):c.845G>A (p.Arg282Gln)	CA9871496	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1722324	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.161+2T>G	CA376064378	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2118854	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)	CA376064481	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2288152	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile)	CA376064484	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2163795	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)	CA5417011	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:969751	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.109+1G>T	CA5417032	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:4665	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	CA117001	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:802564	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	CA376063361	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1364174	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	CA376063520	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:4674	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	CA117007	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2136852	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)	CA376065642	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1438811	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	CA203404964	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2136853	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)	CA376065726	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2107279	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)	CA376065885	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:841042	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His)	CA376065915	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:4677	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr)	CA117009	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:381576	biolink:SequenceVariant	NM_000215.4(JAK3):c.349C>T (p.Arg117Cys)	CA16608977	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:496633	biolink:SequenceVariant	NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser)	CA5950417	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:650904	biolink:SequenceVariant	NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe)	CA380140455	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:496629	biolink:SequenceVariant	NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp)	CA380140584	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:549915	biolink:SequenceVariant	NM_000022.4(ADA):c.736C>T (p.Gln246Ter)	CA409120239	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:304492	biolink:SequenceVariant	NM_000448.3(RAG1):c.37T>G (p.Ser13Ala)	CA5949891	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:555182	biolink:SequenceVariant	NM_000022.4(ADA):c.603C>G (p.Tyr201Ter)	CA409120740	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:36393	biolink:SequenceVariant	NM_002185.5(IL7R):c.539A>C (p.His180Pro)	CA214046	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:14843	biolink:SequenceVariant	NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)	CA124399	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:1968	biolink:SequenceVariant	NM_000022.4(ADA):c.646G>A (p.Gly216Arg)	CA252008	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:529744	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys)	CA1251403	HGNC:775	NCBITaxon:9606	Homo sapiens
CA343774510	biolink:SequenceVariant	NM_001386306.1:c.641A>C	CA343774510	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:660852	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser)	CA343776467	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:694627	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.624+1G>A	CA343776041	HGNC:775	NCBITaxon:9606	Homo sapiens
CA2573051124	biolink:SequenceVariant	NM_001386306.1:c.265_266delinsGC	CA2573051124	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18017	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)	CA210764	HGNC:775	NCBITaxon:9606	Homo sapiens
CA421942771	biolink:SequenceVariant	NM_001386306.1:c.936A>G	CA421942771	HGNC:775	NCBITaxon:9606	Homo sapiens
CA2580612102	biolink:SequenceVariant	NM_001354803.2:c.64_73del	CA2580612102	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585914	biolink:SequenceVariant	NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)	CA367397075	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36172	biolink:SequenceVariant	NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)	CA213707	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2691837	biolink:SequenceVariant	NC_000020.11:g.44355622T>C	CA2579830356	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA386958785	biolink:SequenceVariant	NM_001306179.2:c.332A>G	CA386958785	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1384058	biolink:SequenceVariant	NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly)	CA386960701	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1298987	biolink:SequenceVariant	NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)	CA3232037	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:642787	biolink:SequenceVariant	NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)	CA359428593	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:1323115	biolink:SequenceVariant	NM_002185.5(IL7R):c.235G>T (p.Glu79Ter)	CA359427654	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:1028611	biolink:SequenceVariant	NM_000206.3(IL2RG):c.269+1G>T	CA413496954	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:596673	biolink:SequenceVariant	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	CA902307	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:866507	biolink:SequenceVariant	NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)	CA340748185	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:29873	biolink:SequenceVariant	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	CA226500	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98846	biolink:SequenceVariant	NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	CA226515	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98848	biolink:SequenceVariant	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	CA226517	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1369885	biolink:SequenceVariant	NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)	CA413497082	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:379561	biolink:SequenceVariant	NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)	CA16608976	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:98835	biolink:SequenceVariant	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	CA226499	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:973955	biolink:SequenceVariant	NM_000329.3(RPE65):c.246-11A>G	CA23575475	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:964193	biolink:SequenceVariant	NM_000329.3(RPE65):c.536C>T (p.Ala179Val)	CA340747151	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:467827	biolink:SequenceVariant	NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	CA340747862	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1213912	biolink:SequenceVariant	NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	CA340749160	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:10019	biolink:SequenceVariant	NM_000206.3(IL2RG):c.186T>A (p.Cys62Ter)	CA254980	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:941327	biolink:SequenceVariant	NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)	CA413497107	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1339483	biolink:SequenceVariant	NM_002185.5(IL7R):c.379G>A (p.Val127Ile)	CA359428682	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:429640	biolink:SequenceVariant	NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)	CA645369436	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36169	biolink:SequenceVariant	NM_000162.5(GCK):c.1020-10C>A	CA213703	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400637	biolink:SequenceVariant	NM_033508.3:c.746G>C	CA367400637	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2529312623	biolink:SequenceVariant	NM_033508.3:c.676+3A>T	CA2529312623	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401125	biolink:SequenceVariant	NM_033508.3:c.673G>C	CA367401125	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403546	biolink:SequenceVariant	NM_033508.3:c.107T>A	CA367403546	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1335461	biolink:SequenceVariant	NM_000022.4(ADA):c.763G>T (p.Glu255Ter)	CA409120184	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:456438	biolink:SequenceVariant	NM_000152.5(GAA):c.781G>A (p.Ala261Thr)	CA8815016	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:526525	biolink:SequenceVariant	NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)	CA8815309	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:439746	biolink:SequenceVariant	NM_000152.5(GAA):c.1504A>G (p.Met502Val)	CA8815358	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:282242	biolink:SequenceVariant	NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	CA8815492	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:284232	biolink:SequenceVariant	NM_000152.5(GAA):c.2510G>A (p.Arg837His)	CA8815778	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:465141	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)	CA415086241	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:533700	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)	CA415086073	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2579916788	biolink:SequenceVariant	NM_001142805.2:c.1049_1051del	CA2579916788	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA645287926	biolink:SequenceVariant	NM_001142805.2:c.1029_1031del	CA645287926	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:2031214	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)	-	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415084839	biolink:SequenceVariant	NM_001142805.2:c.993C>G	CA415084839	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415078334	biolink:SequenceVariant	NM_001142805.2:c.407C>T	CA415078334	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:917495	biolink:SequenceVariant	NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)	CA392256545	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:917496	biolink:SequenceVariant	NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)	CA392256442	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:36712	biolink:SequenceVariant	NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)	CA214197	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:583401	biolink:SequenceVariant	NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)	CA5950092	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:231277	biolink:SequenceVariant	NM_000051.4(ATM):c.3078-1G>A	CA6265193	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:135775	biolink:SequenceVariant	NM_000051.4(ATM):c.6807G>A (p.Gln2269=)	CA332354	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:181996	biolink:SequenceVariant	NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)	CA298357	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:407515	biolink:SequenceVariant	NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro)	CA16613415	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:407510	biolink:SequenceVariant	NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)	CA16613442	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:229794	biolink:SequenceVariant	NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	CA6264689	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:127459	biolink:SequenceVariant	NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	CA287019	HGNC:795	NCBITaxon:9606	Homo sapiens
CA382533339	biolink:SequenceVariant	NM_000051.4:c.1262C>T	CA382533339	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:569567	biolink:SequenceVariant	NM_000051.4(ATM):c.217_218del (p.Glu73fs)	CA6264537	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:1713223	biolink:SequenceVariant	NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)	CA228405673	HGNC:795	NCBITaxon:9606	Homo sapiens
CA382556814	biolink:SequenceVariant	NM_000051.4:c.6880G>A	CA382556814	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:220121	biolink:SequenceVariant	NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)	CA349767	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:265634	biolink:SequenceVariant	NM_000051.4(ATM):c.387del (p.Asp130fs)	CA6264597	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:127405	biolink:SequenceVariant	NM_000051.4(ATM):c.5290del (p.Leu1764fs)	CA286887	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:141887	biolink:SequenceVariant	NM_000051.4(ATM):c.1158del (p.Lys387fs)	CA166706	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:141474	biolink:SequenceVariant	NM_000051.4(ATM):c.1355del (p.Thr452fs)	CA165539	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:141742	biolink:SequenceVariant	NM_000051.4(ATM):c.790del (p.Tyr264fs)	CA166283	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:216021	biolink:SequenceVariant	NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	CA338870	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:556315	biolink:SequenceVariant	NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	CA382515111	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:127463	biolink:SequenceVariant	NM_000051.4(ATM):c.8786+1G>A	CA274150	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:989764	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn)	CA376059451	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1515797	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val)	CA376059471	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1057857	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.614A>T (p.Asn205Ile)	CA203395661	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:522770	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)	CA5416895	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1015913	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile)	CA5416902	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:847561	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp)	CA376061249	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2440718	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys)	CA376061278	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:877154	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr)	CA5416932	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1438768	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His)	CA376062327	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:968725	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala)	CA5416935	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2199693	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)	CA5416937	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:633185	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys)	CA5416940	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1515264	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val)	CA5416943	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:655337	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu)	CA376062485	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1434035	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr)	CA5416967	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:536367	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met)	CA5416976	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:648095	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg)	CA376063513	HGNC:17642	NCBITaxon:9606	Homo sapiens
CA1139771319	biolink:SequenceVariant	NM_001354803.2:c.288-13C>A	CA1139771319	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:281715	biolink:SequenceVariant	NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)	CA10603953	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98889	biolink:SequenceVariant	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	CA226579	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1069898	biolink:SequenceVariant	NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)	CA340741972	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98888	biolink:SequenceVariant	NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	CA226576	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:658837	biolink:SequenceVariant	NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)	CA915941307	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:421620	biolink:SequenceVariant	NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	CA16617183	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:870342	biolink:SequenceVariant	NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)	CA902125	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:962032	biolink:SequenceVariant	NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)	CA340748250	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:298021	biolink:SequenceVariant	NM_000329.3(RPE65):c.975T>G (p.Ile325Met)	CA902337	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:876133	biolink:SequenceVariant	NM_000329.3(RPE65):c.565G>A (p.Val189Ile)	CA902465	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1026379	biolink:SequenceVariant	NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)	CA340748547	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:874234	biolink:SequenceVariant	NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)	CA902346	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:627224	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys)	CA343772451	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:1170692	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala)	CA1251411	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:529741	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.1315C>T (p.Pro439Ser)	CA343772365	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18004	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	CA210748	HGNC:775	NCBITaxon:9606	Homo sapiens
CA343772379	biolink:SequenceVariant	NM_001386306.1:c.1097G>T	CA343772379	HGNC:775	NCBITaxon:9606	Homo sapiens
CA343772388	biolink:SequenceVariant	NM_001386306.1:c.1096A>G	CA343772388	HGNC:775	NCBITaxon:9606	Homo sapiens
CA343772391	biolink:SequenceVariant	NM_001386306.1:c.1095C>G	CA343772391	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:1954374	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1219-8A>G	CA2580061384	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:36232	biolink:SequenceVariant	NM_000162.5(GCK):c.604A>G (p.Met202Val)	CA213808	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1213917	biolink:SequenceVariant	NM_000329.3(RPE65):c.859del	CA2497030002	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:13118	biolink:SequenceVariant	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	CA226472	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98860	biolink:SequenceVariant	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	CA226536	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98863	biolink:SequenceVariant	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	CA226540	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:2110257	biolink:SequenceVariant	NM_000329.3:c.10C>T	CA902659	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:372493	biolink:SequenceVariant	NM_000329.3(RPE65):c.893del (p.Lys298fs)	CA226586	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98898	biolink:SequenceVariant	NM_000329.3(RPE65):c.89dup (p.Thr31fs)	CA226588	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:559521	biolink:SequenceVariant	NM_000329.3(RPE65):c.361dup (p.Ser121fs)	CA23575009	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:427864	biolink:SequenceVariant	NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	CA340742354	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:29870	biolink:SequenceVariant	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	CA226484	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:29872	biolink:SequenceVariant	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	CA226589	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:374497	biolink:SequenceVariant	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	CA902588	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:744318	biolink:SequenceVariant	NM_000329.3(RPE65):c.675C>A (p.Ile225=)	CA418281644	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:560497	biolink:SequenceVariant	NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)	CA340747763	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA500436058	biolink:SequenceVariant	NM_000212.3:c.1815C>T	CA500436058	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA500651220	biolink:SequenceVariant	NM_000212.3:c.1431C>T	CA500651220	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA399791611	biolink:SequenceVariant	NM_000419.5:c.2828C>T	CA399791611	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:98826	biolink:SequenceVariant	NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)	CA226485	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA399803382	biolink:SequenceVariant	NM_000419.5:c.1423C>T	CA399803382	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323557	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1394-14C>T	CA8603110	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA915940777	biolink:SequenceVariant	NM_000419.5:c.189-319_236del	CA915940777	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1677036	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.408+16C>T	CA8603479	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA2497030194	biolink:SequenceVariant	NM_000329.3:c.1205_1206insCCTG	CA2497030194	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA2579753976	biolink:SequenceVariant	NM_000329.3:c.1115del	CA2579753976	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340747756	biolink:SequenceVariant	NM_000329.3:c.434C>A	CA340747756	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:801497	biolink:SequenceVariant	NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	CA902468	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1117757	biolink:SequenceVariant	NM_000329.3(RPE65):c.353+7G>A	CA902539	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1468758	biolink:SequenceVariant	NM_000329.3(RPE65):c.998+1G>A	CA340744551	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:875116	biolink:SequenceVariant	NM_000329.3(RPE65):c.1129-5C>T	CA902270	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:13120	biolink:SequenceVariant	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	CA226519	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1438062	biolink:SequenceVariant	NM_000212.3(ITGB3):c.55del (p.Ala19fs)	CA626377544	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA2580612187	biolink:SequenceVariant	NM_000329.3:c.1336dup	CA2580612187	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98857	biolink:SequenceVariant	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	CA226533	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1030779	biolink:SequenceVariant	NM_000419.5:c.1142C>T	CA399804396	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1068757	biolink:SequenceVariant	NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)	CA340749010	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA2586966742	biolink:SequenceVariant	NM_000329.3:c.596dup	CA2586966742	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:870343	biolink:SequenceVariant	NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	CA340742114	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98866	biolink:SequenceVariant	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	CA226545	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340745588	biolink:SequenceVariant	NM_000329.3:c.825C>A	CA340745588	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:488726	biolink:SequenceVariant	NM_000536.4(RAG2):c.2T>C (p.Met1Thr)	CA380145372	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:1901178	biolink:SequenceVariant	NM_000536.4(RAG2):c.95G>T (p.Gly32Val)	CA380144678	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:984454	biolink:SequenceVariant	NM_000022.4(ADA):c.975+1G>A	CA409118697	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:933853	biolink:SequenceVariant	NM_000215.4(JAK3):c.2317G>A (p.Val773Ile)	CA9301626	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:1459771	biolink:SequenceVariant	NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)	CA404767321	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:863482	biolink:SequenceVariant	NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu)	CA9301631	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:519783	biolink:SequenceVariant	NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)	CA055122	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:632819	biolink:SequenceVariant	NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr)	CA392342530	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495629	biolink:SequenceVariant	NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)	CA392341191	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:42391	biolink:SequenceVariant	NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr)	CA016026	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:547334	biolink:SequenceVariant	NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)	CA269532860	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:570737	biolink:SequenceVariant	NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)	CA392339987	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:638559	biolink:SequenceVariant	NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)	CA392339801	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:263898	biolink:SequenceVariant	NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)	CA10587803	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200167	biolink:SequenceVariant	NM_000138.5(FBN1):c.6163+2dup	CA304350	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1746353	biolink:SequenceVariant	NM_000162.5(GCK):c.524G>T (p.Gly175Val)	CA367401683	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1679555	biolink:SequenceVariant	NM_000162.5(GCK):c.524G>C (p.Gly175Ala)	CA367401681	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:21075	biolink:SequenceVariant	NM_000162.5(GCK):c.1019+2T>G	CA341584	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401686	biolink:SequenceVariant	NM_033508.3:c.520G>C	CA367401686	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1746350	biolink:SequenceVariant	NM_000162.5(GCK):c.524G>A (p.Gly175Glu)	CA367401680	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:198050	biolink:SequenceVariant	NM_000162.5(GCK):c.601G>T (p.Ala201Ser)	CA246541	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2580612107	biolink:SequenceVariant	NM_033508.3:c.446_448del	CA2580612107	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA409105441	biolink:SequenceVariant	NM_175914.5:c.337G>T	CA409105441	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:13136	biolink:SequenceVariant	NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	CA122867	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:418449	biolink:SequenceVariant	NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp)	CA5950260	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:1050623	biolink:SequenceVariant	NM_000448.3(RAG1):c.2291G>A (p.Arg764His)	CA5950243	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:551588	biolink:SequenceVariant	NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	CA8337769	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:941268	biolink:SequenceVariant	NM_000018.4(ACADVL):c.878+1G>C	CA8337875	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:449935	biolink:SequenceVariant	NM_000018.4(ACADVL):c.138+2dup	CA658658531	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203597	biolink:SequenceVariant	NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	CA312294	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:617950	biolink:SequenceVariant	NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)	CA8337751	HGNC:92	NCBITaxon:9606	Homo sapiens
CA367398695	biolink:SequenceVariant	NM_001354803.2:c.193G>A	CA367398695	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36182	biolink:SequenceVariant	NM_000162.5(GCK):c.1160C>T (p.Ala387Val)	CA213727	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36181	biolink:SequenceVariant	NM_000162.5(GCK):c.1160C>A (p.Ala387Glu)	CA213725	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:236014	biolink:SequenceVariant	NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	CA10581499	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398735	biolink:SequenceVariant	NM_001354803.2:c.182C>G	CA367398735	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398738	biolink:SequenceVariant	NM_001354803.2:c.181T>A	CA367398738	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:39759	biolink:SequenceVariant	NM_000162.5(GCK):c.1015G>A (p.Glu339Lys)	CA130526	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1685327	biolink:SequenceVariant	NM_000162.5(GCK):c.1017G>C (p.Glu339Asp)	CA157914367	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:16134	biolink:SequenceVariant	NM_000162.5(GCK):c.683C>T (p.Thr228Met)	CA260620	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:393450	biolink:SequenceVariant	NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)	CA16609267	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400787	biolink:SequenceVariant	NM_033508.3:c.680C>G	CA367400787	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447413	biolink:SequenceVariant	NM_000162.5(GCK):c.682A>G (p.Thr228Ala)	CA367400790	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400788	biolink:SequenceVariant	NM_033508.3:c.680C>A	CA367400788	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585924	biolink:SequenceVariant	NM_000162.5(GCK):c.680-2A>G	CA367400799	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36241	biolink:SequenceVariant	NM_000162.5(GCK):c.661G>A (p.Glu221Lys)	CA213824	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1704126	biolink:SequenceVariant	NM_000162.5(GCK):c.389T>C (p.Ile130Thr)	CA157918200	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402147	biolink:SequenceVariant	NM_033508.3:c.386T>A	CA367402147	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:690481	biolink:SequenceVariant	NM_177438.3:c.5222ACA[1]	CA915946357	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:825804	biolink:SequenceVariant	NM_177438.3(DICER1):c.5527+3A>G	CA915946397	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:480386	biolink:SequenceVariant	NM_000314.8(PTEN):c.49C>G (p.Gln17Glu)	CA377781947	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:492727	biolink:SequenceVariant	NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)	CA377784575	HGNC:9588	NCBITaxon:9606	Homo sapiens
CA377781872	biolink:SequenceVariant	NM_000314.8:c.29G>C	CA377781872	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:936561	biolink:SequenceVariant	NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)	CA377481238	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:1691744	biolink:SequenceVariant	NM_000314.8(PTEN):c.198G>T (p.Lys66Asn)	CA377785053	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:1182096	biolink:SequenceVariant	NM_000314.8(PTEN):c.209+4A>G	CA645553763	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:189481	biolink:SequenceVariant	NM_000314.8(PTEN):c.254-2A>G	CA000366	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:468680	biolink:SequenceVariant	NM_000314.8(PTEN):c.278A>C (p.His93Pro)	CA377482091	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:967900	biolink:SequenceVariant	NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter)	CA380135709	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:13141	biolink:SequenceVariant	NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter)	CA122880	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:2019436	biolink:SequenceVariant	NM_000536.4(RAG2):c.3G>A (p.Met1Ile)	CA380145362	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:936307	biolink:SequenceVariant	NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr)	CA380151259	HGNC:9831	NCBITaxon:9606	Homo sapiens
CA367402227	biolink:SequenceVariant	NM_033508.3:c.362T>C	CA367402227	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:435307	biolink:SequenceVariant	NM_000162.5(GCK):c.364C>A (p.Leu122Ile)	CA367402232	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA915940582	biolink:SequenceVariant	NM_000419.5:c.2674del	CA915940582	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:323558	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1157G>A (p.Arg386Gln)	CA8603214	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805605	biolink:SequenceVariant	NM_000419.5:c.605T>G	CA399805605	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:892303	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln)	CA8602997	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA400021913	biolink:SequenceVariant	NM_000212.3:c.428T>C	CA400021913	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:891087	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1888G>A (p.Val630Ile)	CA399801285	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627063	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.409-1G>A	CA399806056	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:654335	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln)	CA5416353	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:952576	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala)	CA203395653	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:4673	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	CA117004	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1322192	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)	CA5416778	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:657472	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)	CA376059856	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2136850	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)	CA5416893	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:852821	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)	CA376061152	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2150998	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)	CA5417034	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1041357	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.97C>T (p.His33Tyr)	CA376065632	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:556878	biolink:SequenceVariant	NM_000277.3(PAH):c.587C>A (p.Ser196Tyr)	CA16020823	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:225196	biolink:SequenceVariant	NM_000206.3(IL2RG):c.677G>A (p.Arg226His)	CA358793	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:225194	biolink:SequenceVariant	NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)	CA358778	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:947759	biolink:SequenceVariant	NM_000206.3(IL2RG):c.455-2A>C	CA413496514	HGNC:6010	NCBITaxon:9606	Homo sapiens
CA413496512	biolink:SequenceVariant	NM_000206.3:c.455-2A>T	CA413496512	HGNC:6010	NCBITaxon:9606	Homo sapiens
CA2695202143	biolink:SequenceVariant	NM_000051.4:c.480_484del	CA2695202143	HGNC:795	NCBITaxon:9606	Homo sapiens
CA2695202151	biolink:SequenceVariant	NM_000051.4:c.4389del	CA2695202151	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:585919	biolink:SequenceVariant	NM_000162.5(GCK):c.364C>G (p.Leu122Val)	CA367402231	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:973191	biolink:SequenceVariant	NM_000162.5(GCK):c.1148del (p.Ser383fs)	CA1139660056	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447397	biolink:SequenceVariant	NM_000162.5(GCK):c.370G>C (p.Asp124His)	CA367402212	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:522504	biolink:SequenceVariant	NM_000162.5(GCK):c.371A>T (p.Asp124Val)	CA367402205	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:162369	biolink:SequenceVariant	NC_012920.1:m.5631G>A	CA274531	HGNC:7475	NCBITaxon:9606	Homo sapiens
CLINVAR:9654	biolink:SequenceVariant	m.9487_9501delTCGCAGGATTTTTCT	CA120600	HGNC:7422	NCBITaxon:9606	Homo sapiens
CLINVAR:9669	biolink:SequenceVariant	m.5920G>A	CA120613	HGNC:7419	NCBITaxon:9606	Homo sapiens
CLINVAR:9668	biolink:SequenceVariant	m.6930G>A	CA120612	HGNC:7419	NCBITaxon:9606	Homo sapiens
CA367402547	biolink:SequenceVariant	NM_033508.3:c.360+1G>A	CA367402547	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:407115	biolink:SequenceVariant	NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	CA16612528	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:435060	biolink:SequenceVariant	NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	CA374983528	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:282707	biolink:SequenceVariant	NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)	CA5252673	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:458346	biolink:SequenceVariant	NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	CA374989708	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:618625	biolink:SequenceVariant	NM_001114753.3(ENG):c.1701del (p.Val568fs)	CA913190140	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:1352569	biolink:SequenceVariant	NM_001114753.3(ENG):c.1312-3C>G	CA2573143980	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:426118	biolink:SequenceVariant	NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)	CA374969537	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:565574	biolink:SequenceVariant	NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)	CA374978784	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:414302	biolink:SequenceVariant	NM_001114753.3(ENG):c.-9G>A	CA5253269	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:8243	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	CA119395	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:1744752	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)	CA384899215	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:811065	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)	CA6573017	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:657805	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)	CA384900118	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:994236	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.1377+4A>T	CA1139662707	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:848699	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)	CA384901425	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:212802	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	CA322708	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:1948619	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)	CA384897562	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:411300	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)	CA16614169	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:426040	biolink:SequenceVariant	NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	CA384906013	HGNC:175	NCBITaxon:9606	Homo sapiens
CA605238909	biolink:SequenceVariant	NM_001077401.2:c.442_444del	CA605238909	HGNC:175	NCBITaxon:9606	Homo sapiens
CA2740089968	biolink:SequenceVariant	NM_001077401.2:c.620del	CA2740089968	HGNC:175	NCBITaxon:9606	Homo sapiens
CLINVAR:237027	biolink:SequenceVariant	NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	CA10582615	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:9664	biolink:SequenceVariant	m.6742T>C	CA120608	HGNC:7419	NCBITaxon:9606	Homo sapiens
CLINVAR:800503	biolink:SequenceVariant	NC_012920.1(MT-ND6):m.14513_14514del	CA915952148	HGNC:7462	NCBITaxon:9606	Homo sapiens
CLINVAR:9686	biolink:SequenceVariant	NC_012920.1:m.14783TTAA[1]	CA120624	HGNC:7427	NCBITaxon:9606	Homo sapiens
CLINVAR:693440	biolink:SequenceVariant	NC_012920.1(MT-ND5):m.12425del	CA915952147	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:156375	biolink:SequenceVariant	NC_012920.1:m.10134C>A	CA270779	HGNC:7458	NCBITaxon:9606	Homo sapiens
CLINVAR:9604	biolink:SequenceVariant	m.4284G>A	CA120571	HGNC:7488	NCBITaxon:9606	Homo sapiens
CLINVAR:690169	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.12241del	CA915952144	HGNC:7498	NCBITaxon:9606	Homo sapiens
CLINVAR:690161	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.12217A>G	CA913169746	HGNC:7498	NCBITaxon:9606	Homo sapiens
CLINVAR:376098	biolink:SequenceVariant	NM_002185.5(IL7R):c.553A>T (p.Ser185Cys)	CA16602559	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:451690	biolink:SequenceVariant	NM_000162.5(GCK):c.427_428delinsCT (p.Lys143Leu)	CA658655971	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402001	biolink:SequenceVariant	NM_033508.3:c.426G>T	CA367402001	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36218	biolink:SequenceVariant	NM_000162.5(GCK):c.449T>C (p.Phe150Ser)	CA213784	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401942	biolink:SequenceVariant	NM_033508.3:c.447C>A	CA367401942	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2582131064	biolink:SequenceVariant	NM_001142805.2:c.497del	CA2582131064	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415077486	biolink:SequenceVariant	NM_001142805.2:c.301G>A	CA415077486	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2695201729	biolink:SequenceVariant	NM_001142805.2:c.644+5G>A	CA2695201729	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415079810	biolink:SequenceVariant	NM_001142805.2:c.676G>T	CA415079810	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582121421	biolink:SequenceVariant	NM_001142805.2:c.1269_1279del	CA2582121421	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582121298	biolink:SequenceVariant	NM_001142805.2:c.1288dup	CA2582121298	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582121175	biolink:SequenceVariant	NM_001142805.2:c.1342_1345del	CA2582121175	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582120572	biolink:SequenceVariant	NM_001142805.2:c.1387_1390del	CA2582120572	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415083182	biolink:SequenceVariant	NM_001142805.2:c.786C>G	CA415083182	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582130583	biolink:SequenceVariant	NM_001142805.2:c.884_885del	CA2582130583	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA337220546	biolink:SequenceVariant	NM_001142805.2:c.1624G>T	CA337220546	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415090852	biolink:SequenceVariant	NM_001142805.2:c.1655G>A	CA415090852	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA915940480	biolink:SequenceVariant	NM_001142805.2:c.1660_1673del	CA915940480	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:11704	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp)	CA256015	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1303056	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1430C>T (p.Ser477Leu)	CA415087505	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415084403	biolink:SequenceVariant	NM_001142805.2:c.917G>A	CA415084403	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:2138757	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)	CA415075865	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:92288	biolink:SequenceVariant	NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	CA220216	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:432108	biolink:SequenceVariant	NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)	CA397723203	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:426278	biolink:SequenceVariant	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	CA8815610	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:92472	biolink:SequenceVariant	NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)	CA220396	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA401366522	biolink:SequenceVariant	NM_001079804.3:c.1400T>C	CA401366522	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1695383	biolink:SequenceVariant	NM_001754.5(RUNX1):c.268del (p.Val90fs)	CA2580098639	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1363605	biolink:SequenceVariant	NM_001754.5(RUNX1):c.503del (p.Gly168fs)	CA2573157355	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1897839	biolink:SequenceVariant	NM_001754.5(RUNX1):c.285del (p.Asn96fs)	CA2580098637	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2024194	biolink:SequenceVariant	NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)	CA2580098649	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2018650	biolink:SequenceVariant	NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)	CA2580098678	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1996224	biolink:SequenceVariant	NM_001754.5(RUNX1):c.505dup (p.Arg169fs)	CA645607320	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA1139771135	biolink:SequenceVariant	NM_001754.5:c.698del	CA1139771135	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410203348	biolink:SequenceVariant	NM_001754.5:c.349A>T	CA410203348	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA1139771058	biolink:SequenceVariant	NM_001754.5:c.637_638del	CA1139771058	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA1139771067	biolink:SequenceVariant	NM_001754.5:c.696del	CA1139771067	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA1139771059	biolink:SequenceVariant	NM_001754.5:c.697del	CA1139771059	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:972746	biolink:SequenceVariant	NM_001079804.3:c.1564C>T	CA294895008	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:371277	biolink:SequenceVariant	NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)	CA16041893	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1219617	biolink:SequenceVariant	NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)	CA401369920	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:555998	biolink:SequenceVariant	NM_000152.5(GAA):c.1048G>A (p.Val350Met)	CA8815133	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:370278	biolink:SequenceVariant	NM_000152.5(GAA):c.1076-22T>G	CA8815157	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:692768	biolink:SequenceVariant	NC_012920.1(MT-CO2):m.7746A>G	CA414793545	HGNC:7421	NCBITaxon:9606	Homo sapiens
CLINVAR:42227	biolink:SequenceVariant	m.7471delC	CA131012	HGNC:7497	NCBITaxon:9606	Homo sapiens
CLINVAR:9719	biolink:SequenceVariant	m.5132_5133delAA	CA120641	HGNC:7456	NCBITaxon:9606	Homo sapiens
CLINVAR:9697	biolink:SequenceVariant	m.13730G>A	CA340936	HGNC:7461	NCBITaxon:9606	Homo sapiens
CLINVAR:550716	biolink:SequenceVariant	NM_004004.6(GJB2):c.1A>T (p.Met1Leu)	CA387462311	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:188480	biolink:SequenceVariant	NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	CA198786	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:971945	biolink:SequenceVariant	NM_000152.5(GAA):c.316C>T (p.Arg106Cys)	CA294887086	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:280956	biolink:SequenceVariant	NM_000152.5(GAA):c.510C>T (p.Asp170=)	CA8814885	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA415088272	biolink:SequenceVariant	NM_001142805.2:c.1499T>A	CA415088272	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA645287847	biolink:SequenceVariant	NM_001142805.2:c.92del	CA645287847	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582131482	biolink:SequenceVariant	NM_001142805.2:c.219del	CA2582131482	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:44729	biolink:SequenceVariant	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	CA198806	HGNC:4284	NCBITaxon:9606	Homo sapiens
CA415077715	biolink:SequenceVariant	NM_001142805.2:c.338G>A	CA415077715	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:2290132	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.370T>C (p.Trp124Arg)	CA415077944	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:551915	biolink:SequenceVariant	NM_004004.6(GJB2):c.2T>G (p.Met1Arg)	CA387462304	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:2070085	biolink:SequenceVariant	NM_004004.6(GJB2):c.3G>A (p.Met1Ile)	CA387462302	HGNC:4284	NCBITaxon:9606	Homo sapiens
CA10549369	biolink:SequenceVariant	NM_001142805.2:c.952G>A	CA10549369	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:11697	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg)	CA256011	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415086358	biolink:SequenceVariant	NM_001142805.2:c.1160C>T	CA415086358	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415086460	biolink:SequenceVariant	NM_001142805.2:c.1176G>A	CA415086460	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415086677	biolink:SequenceVariant	NM_001142805.2:c.1231G>C	CA415086677	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415087081	biolink:SequenceVariant	NM_001142805.2:c.1351A>G	CA415087081	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582119824	biolink:SequenceVariant	NM_001142805.2:c.1402dup	CA2582119824	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA519344969	biolink:SequenceVariant	NM_001142805.2:c.1599G>A	CA519344969	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2466438179	biolink:SequenceVariant	NM_001142805.2:c.1225-35G>A	CA2466438179	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415086699	biolink:SequenceVariant	NM_001142805.2:c.1241G>A	CA415086699	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2580617569	biolink:SequenceVariant	NM_001142805.2:c.1294del	CA2580617569	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415083128	biolink:SequenceVariant	NM_001142805.2:c.778-2A>G	CA415083128	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:804101	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)	CA415087229	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1802549	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)	CA415087494	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415077156	biolink:SequenceVariant	NM_001142805.2:c.262+1G>T	CA415077156	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2579985607	biolink:SequenceVariant	NM_001142805.2:c.1116_1120dup	CA2579985607	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415075833	biolink:SequenceVariant	NM_001142805.2:c.1A>G	CA415075833	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1256306	biolink:SequenceVariant	NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)	CA367398737	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585920	biolink:SequenceVariant	NM_000162.5(GCK):c.377T>C (p.Ile126Thr)	CA367402185	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585907	biolink:SequenceVariant	NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)	CA891843077	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447378	biolink:SequenceVariant	NM_000162.5(GCK):c.1020-1G>A	CA367399428	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36170	biolink:SequenceVariant	NM_000162.5(GCK):c.1020-1G>C	CA213704	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400138	biolink:SequenceVariant	NM_033508.3:c.880G>C	CA367400138	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:393447	biolink:SequenceVariant	NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)	CA16609264	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367396861	biolink:SequenceVariant	NM_001354803.2:c.395C>T	CA367396861	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2740067583	biolink:SequenceVariant	NM_001306179.2:c.-215A>G	CA2740067583	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1683587	biolink:SequenceVariant	NM_002185.5(IL7R):c.41T>C (p.Leu14Ser)	CA359425853	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:800346	biolink:SequenceVariant	NM_002185.5(IL7R):c.205C>G (p.Leu69Val)	CA359427024	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:496628	biolink:SequenceVariant	NM_000536.4(RAG2):c.1332C>G (p.Ile444Met)	CA380140600	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:36718	biolink:SequenceVariant	NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys)	CA214215	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:36717	biolink:SequenceVariant	NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)	CA214212	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:304553	biolink:SequenceVariant	NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)	CA5950504	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:496624	biolink:SequenceVariant	NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)	CA5950542	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:971474	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)	CA5416772	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1015912	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly)	CA376065933	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1035293	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.41T>C (p.Ile14Thr)	CA376065993	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:661326	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser)	CA5417042	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:2062424	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)	CA376066033	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:958156	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr)	CA376066110	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1936229	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)	CA376066117	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1199335	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu)	CA376066161	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:860679	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln)	CA5417048	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:9723	biolink:SequenceVariant	m.4160T>C	CA340942	HGNC:7455	NCBITaxon:9606	Homo sapiens
CLINVAR:2138345	biolink:SequenceVariant	NM_000022.4(ADA):c.976-1G>C	CA315433382	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:134574	biolink:SequenceVariant	NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys)	CA160228	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:1406981	biolink:SequenceVariant	NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)	CA409120739	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1068640	biolink:SequenceVariant	NM_000152.5(GAA):c.340_341insT (p.Lys114fs)	CA658795226	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:714463	biolink:SequenceVariant	NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)	CA8815292	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:994900	biolink:SequenceVariant	NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)	CA9870161	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:524154	biolink:SequenceVariant	NM_175914.5(HNF4A):c.100del (p.Val34fs)	CA658799362	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA9870171	biolink:SequenceVariant	NM_175914.5:c.124G>A	CA9870171	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:156152	biolink:SequenceVariant	NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)	CA170773	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:372382	biolink:SequenceVariant	NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln)	CA16043128	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409103960	biolink:SequenceVariant	NM_175914.5:c.194G>A	CA409103960	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:546494	biolink:SequenceVariant	NM_175914.5(HNF4A):c.195C>A (p.Ser65Arg)	CA409103963	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409103971	biolink:SequenceVariant	NM_175914.5:c.199C>T	CA409103971	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:435436	biolink:SequenceVariant	NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)	CA409103974	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:520895	biolink:SequenceVariant	NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr)	CA409104024	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:430844	biolink:SequenceVariant	NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)	CA409104032	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409104280	biolink:SequenceVariant	NM_175914.5:c.278G>C	CA409104280	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409104356	biolink:SequenceVariant	NM_175914.5:c.297C>G	CA409104356	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409104394	biolink:SequenceVariant	NM_175914.5:c.309G>A	CA409104394	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409105356	biolink:SequenceVariant	NM_175914.5:c.320C>A	CA409105356	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409105413	biolink:SequenceVariant	NM_175914.5:c.331G>T	CA409105413	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:995121	biolink:SequenceVariant	NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp)	CA9870226	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1457657	biolink:SequenceVariant	NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter)	CA409105512	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2573106197	biolink:SequenceVariant	NM_175914.5:c.421del	CA2573106197	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:450787	biolink:SequenceVariant	NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)	CA409105749	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36364	biolink:SequenceVariant	NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	CA207744	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:435439	biolink:SequenceVariant	NM_001287183.1(HNF4A):c.935_937TGC[6] (p.Leu316dup)	CA645373277	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:587398	biolink:SequenceVariant	NM_175914.5(HNF4A):c.427-1G>A	CA409105870	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA9870374	biolink:SequenceVariant	NM_175914.5:c.767A>C	CA9870374	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447524	biolink:SequenceVariant	NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys)	CA409108070	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:804918	biolink:SequenceVariant	NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	CA409108072	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108073	biolink:SequenceVariant	NM_175914.5:c.869G>C	CA409108073	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108074	biolink:SequenceVariant	NM_175914.5:c.869G>T	CA409108074	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447513	biolink:SequenceVariant	NM_175914.5(HNF4A):c.968del (p.Gln323fs)	CA658658873	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409110425	biolink:SequenceVariant	NM_175914.5:c.1283C>T	CA409110425	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA397725976	biolink:SequenceVariant	NM_001270448.2:c.1599+1G>A	CA397725976	HGNC:92	NCBITaxon:9606	Homo sapiens
CA415078666	biolink:SequenceVariant	NM_001142805.2:c.462G>A	CA415078666	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415078874	biolink:SequenceVariant	NM_001142805.2:c.507G>A	CA415078874	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:428204	biolink:SequenceVariant	NM_000314.8(PTEN):c.283C>A (p.Pro95Thr)	CA377482104	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:854960	biolink:SequenceVariant	NM_000156.6:c.440_441del	CA631044734	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1406308	biolink:SequenceVariant	NM_000314.8(PTEN):c.334C>G (p.Leu112Val)	CA377482212	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:428222	biolink:SequenceVariant	NM_000314.8(PTEN):c.359C>A (p.Ala120Glu)	CA377482264	HGNC:9588	NCBITaxon:9606	Homo sapiens
CLINVAR:198683	biolink:SequenceVariant	NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	CA275413	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:166643	biolink:SequenceVariant	NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	CA233431	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:952947	biolink:SequenceVariant	NM_000152.5(GAA):c.1579del (p.Arg527fs)	CA1139665924	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1684354	biolink:SequenceVariant	NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter)	CA400021992	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1695377	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter)	CA8623244	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627020	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	CA8602942	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:890528	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2348+15G>A	CA8602722	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1684321	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2174del (p.Lys725fs)	CA2573153936	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1684322	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2169del (p.Pro723_Met724insTer)	CA2573153938	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:932221	biolink:SequenceVariant	NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)	CA401369511	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:995370	biolink:SequenceVariant	NM_000162.5(GCK):c.454T>C (p.Phe152Leu)	CA367401929	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401928	biolink:SequenceVariant	NM_033508.3:c.451T>A	CA367401928	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1741488	biolink:SequenceVariant	NM_000162.5(GCK):c.455T>C (p.Phe152Ser)	CA367401925	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36221	biolink:SequenceVariant	NM_000162.5(GCK):c.457C>T (p.Pro153Ser)	CA213788	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36223	biolink:SequenceVariant	NM_000162.5(GCK):c.463A>G (p.Arg155Gly)	CA213790	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447401	biolink:SequenceVariant	NM_000162.5(GCK):c.464G>C (p.Arg155Thr)	CA367401902	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:283358	biolink:SequenceVariant	NM_000162.5(GCK):c.572G>A (p.Arg191Gln)	CA10604473	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401376	biolink:SequenceVariant	NM_033508.3:c.602T>G	CA367401376	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2431839	biolink:SequenceVariant	NM_000162.5(GCK):c.579+4del	CA2573051051	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1371376	biolink:SequenceVariant	NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)	CA413496806	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:973969	biolink:SequenceVariant	NM_000329.2:c.1_1602del	-	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1452579	biolink:SequenceVariant	NM_000329.3(RPE65):c.1059dup (p.Lys354fs)	CA2573132575	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98821	biolink:SequenceVariant	NM_000329.3(RPE65):c.1067del (p.Asn356fs)	CA226477	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1212838	biolink:SequenceVariant	NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr)	CA340744155	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:427868	biolink:SequenceVariant	NM_000329.3(RPE65):c.1101A>G (p.Arg367=)	CA418279061	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98830	biolink:SequenceVariant	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	CA226491	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340742683	biolink:SequenceVariant	NM_000329.3:c.1253T>A	CA340742683	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:2131688	biolink:SequenceVariant	NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)	CA2580063208	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:850613	biolink:SequenceVariant	NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)	CA340742486	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1452575	biolink:SequenceVariant	NM_000329.3(RPE65):c.1360del (p.Thr454fs)	CA2573132571	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340741708	biolink:SequenceVariant	NM_000329.3:c.1444G>A	CA340741708	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1321180	biolink:SequenceVariant	NM_000329.3(RPE65):c.1451-1G>A	CA340741548	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:813222	biolink:SequenceVariant	NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)	CA902151	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1384701	biolink:SequenceVariant	NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs)	CA2573132570	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1445004	biolink:SequenceVariant	NM_000329.3(RPE65):c.1580A>G (p.His527Arg)	CA340740585	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340750344	biolink:SequenceVariant	NM_000329.3:c.16G>T	CA340750344	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:559523	biolink:SequenceVariant	NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	CA340748885	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98873	biolink:SequenceVariant	NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	CA226557	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98875	biolink:SequenceVariant	NM_000329.3(RPE65):c.544C>T (p.His182Tyr)	CA226559	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1074826	biolink:SequenceVariant	NM_000329.3(RPE65):c.545A>G (p.His182Arg)	CA340747132	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340750220	biolink:SequenceVariant	NM_000329.3:c.55G>A	CA340750220	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA2586966741	biolink:SequenceVariant	NM_000329.3:c.639dup	CA2586966741	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:437985	biolink:SequenceVariant	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	CA902628	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:556104	biolink:SequenceVariant	NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)	CA340745829	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98891	biolink:SequenceVariant	NM_000329.3(RPE65):c.778_785del (p.Asn260fs)	CA226581	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA2695202184	biolink:SequenceVariant	NM_000329.3:c.806_809delinsTGGAGCCATGAAG	CA2695202184	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98895	biolink:SequenceVariant	NM_000329.3(RPE65):c.859G>T (p.Val287Phe)	CA226585	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:1679125	biolink:SequenceVariant	NM_000329.3(RPE65):c.938A>G (p.His313Arg)	CA340744821	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98902	biolink:SequenceVariant	NM_000329.3(RPE65):c.962dup (p.Asn321fs)	CA226596	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340744560	biolink:SequenceVariant	NM_000329.3:c.997G>C	CA340744560	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:971195	biolink:SequenceVariant	NM_000448.3(RAG1):c.15C>G (p.Phe5Leu)	CA5949888	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:2098676	biolink:SequenceVariant	NM_000448.3(RAG1):c.17C>T (p.Pro6Leu)	CA380144964	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:1515226	biolink:SequenceVariant	NM_000448.3(RAG1):c.29G>T (p.Gly10Val)	CA220599791	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:1348464	biolink:SequenceVariant	NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)	CA5949893	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:2269371	biolink:SequenceVariant	NM_000448.3(RAG1):c.76T>C (p.Ser26Pro)	CA380145361	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:843919	biolink:SequenceVariant	NM_000448.3(RAG1):c.82T>C (p.Trp28Arg)	CA380145403	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:2079766	biolink:SequenceVariant	NM_000448.3(RAG1):c.86A>G (p.Lys29Arg)	CA5949900	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:2199784	biolink:SequenceVariant	NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)	CA315433936	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1038658	biolink:SequenceVariant	NM_000022.4(ADA):c.938G>A (p.Arg313Gln)	CA9871461	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1195941	biolink:SequenceVariant	NM_000022.4(ADA):c.937C>T (p.Arg313Trp)	CA9871463	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1507601	biolink:SequenceVariant	NM_000022.4(ADA):c.935A>G (p.Lys312Arg)	CA9871464	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1357028	biolink:SequenceVariant	NM_000022.4(ADA):c.934A>C (p.Lys312Gln)	CA9871465	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:950101	biolink:SequenceVariant	NM_000022.4(ADA):c.932C>T (p.Thr311Ile)	CA9871466	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1626393	biolink:SequenceVariant	NM_000022.4(ADA):c.930G>A (p.Met310Ile)	CA9871467	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:2009484	biolink:SequenceVariant	NM_000022.4(ADA):c.902A>T (p.Lys301Met)	CA409118978	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:845973	biolink:SequenceVariant	NM_000022.4(ADA):c.902A>G (p.Lys301Arg)	CA409118977	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:897016	biolink:SequenceVariant	NM_000022.4(ADA):c.899T>G (p.Phe300Cys)	CA9871470	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:194316	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	CA240224	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:541723	biolink:SequenceVariant	NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)	CA397723367	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:36199	biolink:SequenceVariant	NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)	CA213758	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367396925	biolink:SequenceVariant	NM_001354803.2:c.379G>T	CA367396925	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36195	biolink:SequenceVariant	NM_000162.5(GCK):c.1307T>A (p.Ile436Asn)	CA213751	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36194	biolink:SequenceVariant	NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)	CA213749	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585912	biolink:SequenceVariant	NM_000162.5(GCK):c.1280T>G (p.Val427Gly)	CA367397199	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36189	biolink:SequenceVariant	NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr)	CA213740	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447389	biolink:SequenceVariant	NM_000162.5(GCK):c.1268T>C (p.Phe423Ser)	CA367397256	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398282	biolink:SequenceVariant	NM_001354803.2:c.269T>A	CA367398282	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2734988	biolink:SequenceVariant	NM_001354803.2:c.269T>C	CA367398281	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447387	biolink:SequenceVariant	NM_000162.5(GCK):c.1235T>G (p.Val412Gly)	CA367398280	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398289	biolink:SequenceVariant	NM_001354803.2:c.268G>A	CA367398289	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447386	biolink:SequenceVariant	NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)	CA367398309	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:3233995	biolink:SequenceVariant	NM_001354803.2:c.262G>A	CA367398315	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1472875	biolink:SequenceVariant	NM_000162.5(GCK):c.1228G>C (p.Gly410Arg)	CA367398313	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398311	biolink:SequenceVariant	NM_001354803.2:c.262G>T	CA367398311	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1303094	biolink:SequenceVariant	NM_001354803.2:c.203_205del	CA2580612099	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36183	biolink:SequenceVariant	NM_000162.5(GCK):c.1169T>A (p.Ile390Asn)	CA213729	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36184	biolink:SequenceVariant	NM_000162.5(GCK):c.1169T>C (p.Ile390Thr)	CA213731	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2580610955	biolink:SequenceVariant	NM_001354803.2:c.203del	CA2580610955	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398660	biolink:SequenceVariant	NM_001354803.2:c.200T>A	CA367398660	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398657	biolink:SequenceVariant	NM_001354803.2:c.200T>C	CA367398657	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:280892	biolink:SequenceVariant	NM_000162.5(GCK):c.1163dup (p.Val389fs)	CA10603030	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36180	biolink:SequenceVariant	NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)	CA213723	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398699	biolink:SequenceVariant	NM_001354803.2:c.191T>G	CA367398699	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:804837	biolink:SequenceVariant	NM_000162.5(GCK):c.1156C>G (p.Leu386Val)	CA367398705	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2580612101	biolink:SequenceVariant	NM_001354803.2:c.166_167del	CA2580612101	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:219179	biolink:SequenceVariant	NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)	CA279947	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401894	biolink:SequenceVariant	NM_033508.3:c.463C>G	CA367401894	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2567920	biolink:SequenceVariant	NM_033508.3:c.455C>A	CA367401917	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1512780	biolink:SequenceVariant	NM_000536.4(RAG2):c.13A>T (p.Met5Leu)	CA380145283	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:990457	biolink:SequenceVariant	NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)	CA380145244	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:1309924	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val)	CA2061285	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:898483	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1607G>A (p.Arg536His)	CA2061415	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:8800	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr)	CA278077	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:812796	biolink:SequenceVariant	NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr)	CA350399510	HGNC:1078	NCBITaxon:9606	Homo sapiens
CA409106055	biolink:SequenceVariant	NM_175914.5:c.514C>A	CA409106055	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:304560	biolink:SequenceVariant	NM_000536.4(RAG2):c.14T>A (p.Met5Lys)	CA5950635	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:2301303	biolink:SequenceVariant	NM_000536.4(RAG2):c.48G>T (p.Gln16His)	CA380145022	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:857533	biolink:SequenceVariant	NM_000536.4(RAG2):c.53G>T (p.Gly18Val)	CA380144975	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:658239	biolink:SequenceVariant	NM_000536.4(RAG2):c.68A>G (p.Asn23Ser)	CA5950626	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:879522	biolink:SequenceVariant	NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)	CA380144809	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:990456	biolink:SequenceVariant	NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)	CA380144800	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:662119	biolink:SequenceVariant	NM_000022.4(ADA):c.578T>A (p.Leu193His)	CA9871625	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:382795	biolink:SequenceVariant	NM_000022.4(ADA):c.575G>A (p.Ser192Asn)	CA16608444	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1015428	biolink:SequenceVariant	NM_000022.4(ADA):c.574A>G (p.Ser192Gly)	CA409120799	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:960745	biolink:SequenceVariant	NM_000022.4(ADA):c.572G>A (p.Ser191Asn)	CA409120803	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:2147602	biolink:SequenceVariant	NM_000022.4(ADA):c.569G>A (p.Gly190Glu)	CA9871628	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:1696220	biolink:SequenceVariant	NM_000022.4(ADA):c.539T>C (p.Ile180Thr)	CA409120875	HGNC:186	NCBITaxon:9606	Homo sapiens
CA409106957	biolink:SequenceVariant	NM_175914.5:c.641C>A	CA409106957	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:212810	biolink:SequenceVariant	NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)	CA320454	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:8799	biolink:SequenceVariant	NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)	CA278075	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:333645	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val)	CA2061380	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:898486	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1698T>A (p.Ile566=)	CA64042886	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:409829	biolink:SequenceVariant	NM_001204.7(BMPR2):c.968-5A>G	CA16610662	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425943	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)	CA350344424	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:8797	biolink:SequenceVariant	NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter)	CA278072	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425725	biolink:SequenceVariant	NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter)	CA645293999	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:8806	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)	CA278089	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:228460	biolink:SequenceVariant	NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro)	CA10576586	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425852	biolink:SequenceVariant	NM_001204.7(BMPR2):c.968-3C>G	CA645293968	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:333647	biolink:SequenceVariant	NM_001204.7(BMPR2):c.2352C>T (p.Val784=)	CA2061522	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:623142	biolink:SequenceVariant	NM_000212.3(ITGB3):c.325del (p.Val109fs)	CA913190317	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:623143	biolink:SequenceVariant	NM_000212.3(ITGB3):c.778-2A>G	CA8623057	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:425800	biolink:SequenceVariant	NM_001204.7(BMPR2):c.529+2T>C	CA350338507	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:627027	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1973del (p.Ala658fs)	CA915940791	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627268	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.188+5G>T	CA915940776	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:626981	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1211-1G>C	CA399803822	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:627284	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)	CA399795012	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:2092257	biolink:SequenceVariant	NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)	CA8623481	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:425731	biolink:SequenceVariant	NM_001204.7(BMPR2):c.247+1_247+7del	CA645294001	HGNC:1078	NCBITaxon:9606	Homo sapiens
CA400034189	biolink:SequenceVariant	NM_000212.3:c.2222G>A	CA400034189	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:626948	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln)	CA915940786	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399803746	biolink:SequenceVariant	NM_000419.5:c.1252G>T	CA399803746	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1349574	biolink:SequenceVariant	NM_000536.4(RAG2):c.25A>G (p.Ser9Gly)	CA380145206	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:36713	biolink:SequenceVariant	NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)	CA214200	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:1365761	biolink:SequenceVariant	NM_006922.4(SCN3A):c.585_586del (p.Phe195fs)	CA2573133615	HGNC:10590	NCBITaxon:9606	Homo sapiens
CLINVAR:207024	biolink:SequenceVariant	NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	CA318033	HGNC:10588	NCBITaxon:9606	Homo sapiens
CLINVAR:189929	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)	CA303333	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:425938	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1413+1G>A	CA350343048	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:1759366	biolink:SequenceVariant	NM_177438.3(DICER1):c.1020G>T (p.Leu340=)	CA487845865	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:656642	biolink:SequenceVariant	NM_177438.3(DICER1):c.1047C>A (p.Asp349Glu)	CA390887078	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:850948	biolink:SequenceVariant	NM_177438.3(DICER1):c.1036T>G (p.Leu346Val)	CA390887105	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:826421	biolink:SequenceVariant	NM_177438.3(DICER1):c.646C>A (p.Pro216Thr)	CA7331606	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:543562	biolink:SequenceVariant	NM_177438.3(DICER1):c.527A>T (p.Glu176Val)	CA7331646	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:570615	biolink:SequenceVariant	NM_177438.3(DICER1):c.818A>C (p.Glu273Ala)	CA390887653	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:412143	biolink:SequenceVariant	NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu)	CA16614163	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:652143	biolink:SequenceVariant	NM_177438.3(DICER1):c.5173C>T (p.Arg1725Trp)	CA7330711	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:479649	biolink:SequenceVariant	NM_177438.3(DICER1):c.5077C>A (p.His1693Asn)	CA390865930	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:477204	biolink:SequenceVariant	NM_177438.3(DICER1):c.4423A>G (p.Thr1475Ala)	CA7330848	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1687238	biolink:SequenceVariant	NM_177438.3(DICER1):c.2257-2A>G	CA390882450	HGNC:17098	NCBITaxon:9606	Homo sapiens
CA390867526	biolink:SequenceVariant	NR_172720.1:n.5030G>A	CA390867526	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:285157	biolink:SequenceVariant	NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)	CA8815349	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:189124	biolink:SequenceVariant	NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	CA274402	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:253297	biolink:SequenceVariant	NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)	CA10586302	HGNC:10596	NCBITaxon:9606	Homo sapiens
CLINVAR:694309	biolink:SequenceVariant	NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)	CA384904367	HGNC:10596	NCBITaxon:9606	Homo sapiens
CA2586970245	biolink:SequenceVariant	NM_001165963.4:c.5511del	CA2586970245	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:189869	biolink:SequenceVariant	NM_001165963.4:c.2792G>A	CA303154	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:373960	biolink:SequenceVariant	NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	CA16043377	HGNC:10590	NCBITaxon:9606	Homo sapiens
CLINVAR:68689	biolink:SequenceVariant	NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)	CA219824	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:206852	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)	CA317553	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:194555	biolink:SequenceVariant	NM_021007.3:c.2558G>A	CA210022	HGNC:10588	NCBITaxon:9606	Homo sapiens
CLINVAR:1478168	biolink:SequenceVariant	NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	CA349039608	HGNC:10588	NCBITaxon:9606	Homo sapiens
CLINVAR:1342669	biolink:SequenceVariant	NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu)	CA349020765	HGNC:10588	NCBITaxon:9606	Homo sapiens
CA343777244	biolink:SequenceVariant	NM_001386306.1:c.391C>G	CA343777244	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:654211	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)	CA1251409	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18015	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser)	CA210760	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:870596	biolink:SequenceVariant	NC_012920.1(MT-TP):m.15958A>T	CA913175296	HGNC:7494	NCBITaxon:9606	Homo sapiens
CA1251327	biolink:SequenceVariant	NM_001386306.1:c.642G>C	CA1251327	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:811513	biolink:SequenceVariant	NM_000133.4(F9):c.1325G>A (p.Gly442Glu)	CA414447349	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:699299	biolink:SequenceVariant	NM_000132.4(F8):c.1272-5T>C	CA10568476	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414447224	biolink:SequenceVariant	NM_001313913.2:c.1190G>T	CA414447224	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:9211	biolink:SequenceVariant	NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter)	CA120194	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:972784	biolink:SequenceVariant	NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)	CA9870244	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:586016	biolink:SequenceVariant	NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)	CA9870271	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:549554	biolink:SequenceVariant	NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser)	CA9870282	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:435437	biolink:SequenceVariant	NM_175914.5:c.473_475del	CA645373276	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:493321	biolink:SequenceVariant	NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)	CA9870289	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:520675	biolink:SequenceVariant	NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter)	CA409106015	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:488999	biolink:SequenceVariant	NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)	CA409106057	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36354	biolink:SequenceVariant	NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro)	CA213958	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106173	biolink:SequenceVariant	NM_175914.5:c.553G>A	CA409106173	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:2580600	biolink:SequenceVariant	NM_175914.5:c.577G>T	CA409106265	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106718	biolink:SequenceVariant	NM_175914.5:c.583-1G>A	CA409106718	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36355	biolink:SequenceVariant	NM_175914.5(HNF4A):c.575_582+10del	CA213965	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106789	biolink:SequenceVariant	NM_175914.5:c.601C>T	CA409106789	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106859	biolink:SequenceVariant	NM_175914.5:c.617T>C	CA409106859	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:397578	biolink:SequenceVariant	NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr)	CA16609462	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106952	biolink:SequenceVariant	NM_175914.5:c.640T>G	CA409106952	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409106961	biolink:SequenceVariant	NM_175914.5:c.641C>T	CA409106961	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:586020	biolink:SequenceVariant	NM_175914.5(HNF4A):c.670+5G>C	CA891844332	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1186689	biolink:SequenceVariant	NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	CA9870361	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447520	biolink:SequenceVariant	NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln)	CA409107360	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409107446	biolink:SequenceVariant	NM_175914.5:c.733C>G	CA409107446	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:870344	biolink:SequenceVariant	NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)	CA340742376	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:36720	biolink:SequenceVariant	NM_000536.4(RAG2):c.328A>C (p.Met110Leu)	CA214221	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:2163677	biolink:SequenceVariant	NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)	CA380143726	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:36716	biolink:SequenceVariant	NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	CA214209	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:857069	biolink:SequenceVariant	NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)	CA380142798	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:281042	biolink:SequenceVariant	NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)	CA8337864	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:370886	biolink:SequenceVariant	NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	CA16041865	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:932843	biolink:SequenceVariant	NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)	CA397723589	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:557676	biolink:SequenceVariant	NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	CA8337912	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:21024	biolink:SequenceVariant	NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	CA341526	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:197662	biolink:SequenceVariant	NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)	CA000455	HGNC:9588	NCBITaxon:9606	Homo sapiens
CA415086302	biolink:SequenceVariant	NM_001142805.2:c.1151C>A	CA415086302	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA4239423	biolink:SequenceVariant	NM_001354803.2:c.182C>A	CA4239423	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:983782	biolink:SequenceVariant	NM_000022.4(ADA):c.511A>T (p.Lys171Ter)	CA409120933	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:983781	biolink:SequenceVariant	NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)	CA9871639	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:636917	biolink:SequenceVariant	NM_000206.3(IL2RG):c.184T>A (p.Cys62Ser)	CA413497161	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1323112	biolink:SequenceVariant	NM_000206.3(IL2RG):c.115+1G>T	CA413497548	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:418451	biolink:SequenceVariant	NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln)	CA16619319	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:496900	biolink:SequenceVariant	NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)	CA8815730	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:450358	biolink:SequenceVariant	NM_000152.5(GAA):c.1630G>A (p.Val544Met)	CA8815395	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:280954	biolink:SequenceVariant	NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)	CA8815545	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:928930	biolink:SequenceVariant	NM_000152.5:c.1913G>T	CA401369874	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:285197	biolink:SequenceVariant	NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)	CA8815679	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:4023	biolink:SequenceVariant	NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	CA116596	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA400029324	biolink:SequenceVariant	NM_000212.3:c.1448G>A	CA400029324	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:1803282	biolink:SequenceVariant	NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val)	CA400032666	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA2759533408	biolink:SequenceVariant	NM_000419.5:c.1654del	CA2759533408	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA2759533407	biolink:SequenceVariant	NM_000419.5:c.480del	CA2759533407	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8603562	biolink:SequenceVariant	NM_000419.5:c.10G>A	CA8603562	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA8623258	biolink:SequenceVariant	NM_000212.3:c.1412G>T	CA8623258	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8622981	biolink:SequenceVariant	NM_000212.3:c.563C>T	CA8622981	HGNC:6156	NCBITaxon:9606	Homo sapiens
CLINVAR:627098	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.574+5G>A	CA915940782	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA367401570	biolink:SequenceVariant	NM_033508.3:c.556G>T	CA367401570	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401572	biolink:SequenceVariant	NM_033508.3:c.556G>C	CA367401572	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2740099755	biolink:SequenceVariant	NM_001306179.2:c.196_198dup	CA2740099755	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1700671	biolink:SequenceVariant	NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)	CA6831743	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:994548	biolink:SequenceVariant	NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter)	CA386959398	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959402	biolink:SequenceVariant	NM_001306179.2:c.388C>G	CA386959402	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959427	biolink:SequenceVariant	NM_001306179.2:c.390G>T	CA386959427	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959458	biolink:SequenceVariant	NM_001306179.2:c.394G>A	CA386959458	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959470	biolink:SequenceVariant	NM_001306179.2:c.395A>T	CA386959470	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959497	biolink:SequenceVariant	NM_001306179.2:c.396G>C	CA386959497	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964629	biolink:SequenceVariant	NM_001306179.2:c.637A>T	CA386964629	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386964662	biolink:SequenceVariant	NM_001306179.2:c.638T>C	CA386964662	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:2916089	biolink:SequenceVariant	NM_001306179.2:c.1556C>G	CA6832109	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA409109837	biolink:SequenceVariant	NM_175914.5:c.1A>G	CA409109837	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409109839	biolink:SequenceVariant	NM_175914.5:c.2T>A	CA409109839	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409103677	biolink:SequenceVariant	NM_175914.5:c.62C>A	CA409103677	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:967164	biolink:SequenceVariant	NM_000022.4(ADA):c.622G>A (p.Gly208Ser)	CA9871582	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:841399	biolink:SequenceVariant	NM_000022.4(ADA):c.618G>T (p.Lys206Asn)	CA9871584	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:835256	biolink:SequenceVariant	NM_000022.4(ADA):c.608A>C (p.Glu203Ala)	CA315435990	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:2050660	biolink:SequenceVariant	NM_000022.4(ADA):c.596A>G (p.Gln199Arg)	CA409120756	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:573475	biolink:SequenceVariant	NM_000536.4(RAG2):c.35T>C (p.Ile12Thr)	CA5950633	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:940774	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.342G>C (p.Gln114His)	CA415077745	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:11703	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val)	CA256014	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582129988	biolink:SequenceVariant	NM_001142805.2:c.428_430del	CA2582129988	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415079038	biolink:SequenceVariant	NM_001142805.2:c.541T>C	CA415079038	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582115911	biolink:SequenceVariant	NM_001142805.2:c.1577_1582del	CA2582115911	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA10549330	biolink:SequenceVariant	NM_001142805.2:c.808G>A	CA10549330	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA10549339	biolink:SequenceVariant	NM_001142805.2:c.880A>C	CA10549339	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA10549367	biolink:SequenceVariant	NM_001142805.2:c.942C>G	CA10549367	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415080522	biolink:SequenceVariant	NM_001142805.2:c.757G>C	CA415080522	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:410218	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.972_973CA[1] (p.Thr325fs)	CA16616640	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:488696	biolink:SequenceVariant	NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)	CA413496915	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1066149	biolink:SequenceVariant	NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg)	CA413497163	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1305363	biolink:SequenceVariant	NM_000156.6(GAMT):c.114C>T (p.Gly38=)	CA504731636	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:633275	biolink:SequenceVariant	NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)	CA413497169	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1677132	biolink:SequenceVariant	NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)	CA413497183	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:9363	biolink:SequenceVariant	NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)	CA120303	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:9364	biolink:SequenceVariant	NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)	CA120306	HGNC:6193	NCBITaxon:9606	Homo sapiens
CLINVAR:1708141	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)	CA5416545	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:968126	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu)	CA5416771	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:653423	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly)	CA376059549	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:646928	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln)	CA5416773	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:576525	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)	CA5416774	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:647111	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp)	CA376059596	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1022921	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu)	CA376059636	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:299320	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys)	CA5416784	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1042451	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.539A>T (p.Glu180Val)	CA376059715	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:288327	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.526A>G (p.Ile176Val)	CA5416811	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1965651	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)	CA376059912	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:666119	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val)	CA376059956	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:879948	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile)	CA5416821	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1511542	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe)	CA5416824	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1013704	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.470A>C (p.Lys157Thr)	CA376060000	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:879949	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp)	CA5416841	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1514295	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly)	CA5416845	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:648065	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His)	CA5416848	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1144398	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=)	CA376062237	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:418656	biolink:SequenceVariant	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	CA16621482	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:2138599	biolink:SequenceVariant	NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)	CA413628043	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1507904	biolink:SequenceVariant	NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg)	CA10443824	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1411137	biolink:SequenceVariant	NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)	CA413495835	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:463384	biolink:SequenceVariant	NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter)	CA413495887	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:36388	biolink:SequenceVariant	NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)	CA260419	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:503682	biolink:SequenceVariant	NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter)	CA413495931	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1172577	biolink:SequenceVariant	NM_000206.3(IL2RG):c.655T>C (p.Tyr219His)	CA413496034	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:1066837	biolink:SequenceVariant	NM_000206.3(IL2RG):c.116-2A>G	CA413497314	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:463378	biolink:SequenceVariant	NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)	CA413497595	HGNC:6010	NCBITaxon:9606	Homo sapiens
CLINVAR:624606	biolink:SequenceVariant	NM_001243786.2:c.1A>G	CA380145381	HGNC:9832	NCBITaxon:9606	Homo sapiens
CLINVAR:955439	biolink:SequenceVariant	NM_000038.6(APC):c.1042C>T (p.Arg348Ter)	CA16021325	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:449383	biolink:SequenceVariant	NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)	CA220600683	HGNC:9831	NCBITaxon:9606	Homo sapiens
CLINVAR:353268	biolink:SequenceVariant	NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)	CA3232074	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:418257	biolink:SequenceVariant	NM_002185.5(IL7R):c.212T>C (p.Phe71Ser)	CA3231862	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:1393864	biolink:SequenceVariant	NM_002185.5(IL7R):c.135G>C (p.Gln45His)	CA359426752	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:555727	biolink:SequenceVariant	NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)	CA8815636	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:1901446	biolink:SequenceVariant	NM_000022.4(ADA):c.606+1G>T	CA409120729	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:444650	biolink:SequenceVariant	NM_002185.5(IL7R):c.554G>T (p.Ser185Ile)	CA359430569	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:1068066	biolink:SequenceVariant	NM_000206.3(IL2RG):c.116-1G>A	CA413497310	HGNC:6010	NCBITaxon:9606	Homo sapiens
CA1139771069	biolink:SequenceVariant	NM_001754.5:c.422_423insAACC	CA1139771069	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA1139771060	biolink:SequenceVariant	NM_001754.5:c.423_424insAACC	CA1139771060	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2820100	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)	CA410147746	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1710503	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1110del (p.Met371fs)	CA2580098818	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1484777	biolink:SequenceVariant	NM_001754.5(RUNX1):c.401C>T (p.Ala134Val)	CA410202690	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA2695237935	biolink:SequenceVariant	NM_001142805.2:c.1362+24_1363-30del	CA2695237935	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:561109	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)	CA415077728	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA415086032	biolink:SequenceVariant	NM_001142805.2:c.1112-2A>G	CA415086032	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2579916736	biolink:SequenceVariant	NM_001142805.2:c.1016+21_1016+54del	CA2579916736	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:428806	biolink:SequenceVariant	NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	CA16602179	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:223171	biolink:SequenceVariant	NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	CA357078	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:526679	biolink:SequenceVariant	NM_000551.4(VHL):c.463+1G>A	CA16621909	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:526673	biolink:SequenceVariant	NM_000551.4(VHL):c.610G>T (p.Glu204Ter)	CA041909	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:43597	biolink:SequenceVariant	NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	CA020099	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:560745	biolink:SequenceVariant	NM_000551.4(VHL):c.461C>G (p.Pro154Arg)	CA351754408	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:2225	biolink:SequenceVariant	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	CA020488	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:440404	biolink:SequenceVariant	NM_000551.4(VHL):c.634G>T (p.Gly212Ter)	CA351756706	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:196284	biolink:SequenceVariant	NM_000551.4(VHL):c.586A>T (p.Lys196Ter)	CA020507	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:428794	biolink:SequenceVariant	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	CA70052558	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:2216	biolink:SequenceVariant	NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	CA020454	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:182959	biolink:SequenceVariant	NM_000551.4(VHL):c.477del (p.Glu160fs)	CA020404	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:411979	biolink:SequenceVariant	NM_000551.4(VHL):c.422dup (p.Asn141fs)	CA16611276	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:43601	biolink:SequenceVariant	NM_000551.4(VHL):c.408del (p.Phe136fs)	CA020343	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:141044	biolink:SequenceVariant	NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	CA020313	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:223194	biolink:SequenceVariant	NM_000551.4(VHL):c.341-2A>G	CA357004	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:411994	biolink:SequenceVariant	NM_000551.4(VHL):c.341-25_370dup	CA040509	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:411978	biolink:SequenceVariant	NM_000551.4(VHL):c.273C>A (p.Phe91Leu)	CA16611270	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:182977	biolink:SequenceVariant	NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	CA020186	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:93326	biolink:SequenceVariant	NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	CA020131	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:941841	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.467_469del (p.Phe156del)	CA1139667841	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:655729	biolink:SequenceVariant	NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn)	CA415169023	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:378124	biolink:SequenceVariant	NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)	CA16609147	HGNC:6990	NCBITaxon:9606	Homo sapiens
CA2582115078	biolink:SequenceVariant	NM_138924.3:c.391+5G>C	CA2582115078	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1391239	biolink:SequenceVariant	NM_000156.6(GAMT):c.432G>A (p.Trp144Ter)	CA402995151	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1334161	biolink:SequenceVariant	NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	CA6904231	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:438620	biolink:SequenceVariant	NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	CA387460849	HGNC:4284	NCBITaxon:9606	Homo sapiens
CLINVAR:18009	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro)	CA210752	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:876602	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln)	CA1251448	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:1301540	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)	CA1251467	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:627341	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His)	CA343776228	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:661606	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.448dup (p.Gln150fs)	CA915943674	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18030	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)	CA210779	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:2267274	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)	CA343777896	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:940768	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr)	CA343779044	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:293841	biolink:SequenceVariant	NM_000488.3(SERPINC1):c.-88G>A	CA10608401	HGNC:775	NCBITaxon:9606	Homo sapiens
CA367402543	biolink:SequenceVariant	NM_033508.3:c.360+2T>C	CA367402543	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA414905047	biolink:SequenceVariant	NM_000132.4:c.6028T>C	CA414905047	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10253	biolink:SequenceVariant	NM_000132.4(F8):c.3637del (p.Ile1213fs)	CA255146	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10236	biolink:SequenceVariant	NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	CA255129	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2775446	biolink:SequenceVariant	NM_000132.4:c.1372C>T	CA414914682	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414916097	biolink:SequenceVariant	NM_000132.3:c.1213A>T	CA414916097	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10208	biolink:SequenceVariant	NM_000132.3(F8):c.1214T>G (p.Ile405Ser)	CA255098	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10195	biolink:SequenceVariant	NM_000132.3(F8):c.923C>T (p.Ser308Leu)	CA255082	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414896830	biolink:SequenceVariant	NM_019863.3:c.610A>T	CA414896830	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10085	biolink:SequenceVariant	NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)	CA255007	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414447210	biolink:SequenceVariant	NM_001313913.2:c.1189T>A	CA414447210	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414447212	biolink:SequenceVariant	NM_001313913.2:c.1189T>C	CA414447212	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414447216	biolink:SequenceVariant	NM_001313913.2:c.1189T>G	CA414447216	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:811512	biolink:SequenceVariant	NM_000133.4(F9):c.1304G>A (p.Cys435Tyr)	CA414447219	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414915809	biolink:SequenceVariant	NM_000132.3:c.1244C>A	CA414915809	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414447354	biolink:SequenceVariant	NM_001313913.2:c.1211G>T	CA414447354	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414447351	biolink:SequenceVariant	NM_001313913.2:c.1211G>C	CA414447351	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414446711	biolink:SequenceVariant	NM_001313913.2:c.1121G>C	CA414446711	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:651569	biolink:SequenceVariant	NM_000133.3(F9):c.88G>A (p.Val30Ile)	CA414434500	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414445371	biolink:SequenceVariant	NM_000133.4:c.1010C>T	CA414445371	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:626950	biolink:SequenceVariant	NM_000133.3(F9):c.1009G>A (p.Ala337Thr)	CA414445354	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414447533	biolink:SequenceVariant	NM_001313913.2:c.1245G>A	CA414447533	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:10587	biolink:SequenceVariant	NM_000133.3(F9):c.880C>T (p.Arg294Ter)	CA255344	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:10585	biolink:SequenceVariant	NM_000133.3(F9):c.572G>A (p.Arg191His)	CA255342	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:810867	biolink:SequenceVariant	NM_000133.4(F9):c.720G>A (p.Trp240Ter)	CA414441410	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:10572	biolink:SequenceVariant	NM_000133.4(F9):c.223C>T (p.Arg75Ter)	CA340993	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:216926	biolink:SequenceVariant	NM_000133.3(F9):c.835G>A (p.Ala279Thr)	CA277507	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:10579	biolink:SequenceVariant	NM_000133.3(F9):c.316G>A (p.Gly106Ser)	CA255329	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:2775451	biolink:SequenceVariant	NM_001313913.2:c.1121G>A	CA414446709	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:2775450	biolink:SequenceVariant	NM_000132.4:c.6429+2T>A	CA414899265	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:627328	biolink:SequenceVariant	NM_000132.4(F8):c.5303G>A (p.Arg1768His)	CA10568007	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10256	biolink:SequenceVariant	NM_000132.3(F8):c.4121_4124del (p.Ile1374fs)	CA255148	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10294	biolink:SequenceVariant	NM_000132.3(F8):c.5822A>G (p.Asn1941Ser)	CA255184	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10274	biolink:SequenceVariant	NM_000132.4(F8):c.5399G>A (p.Arg1800His)	CA255162	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2775449	biolink:SequenceVariant	NM_000132.4:c.686C>A	CA414919140	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10232	biolink:SequenceVariant	NM_000132.3(F8):c.1804C>T (p.Arg602Ter)	CA255124	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10247	biolink:SequenceVariant	NM_000132.3(F8):c.2215G>A (p.Glu739Lys)	CA255139	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2775448	biolink:SequenceVariant	NM_000132.4:c.1701del	CA915940891	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10139	biolink:SequenceVariant	NM_000132.3(F8):c.1063C>T (p.Arg355Ter)	CA255031	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2775447	biolink:SequenceVariant	NM_000132.3:c.5488G>T	CA414908714	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10304	biolink:SequenceVariant	NM_000132.3(F8):c.6046C>T (p.Arg2016Trp)	CA255197	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10327	biolink:SequenceVariant	NM_000132.3(F8):c.6744G>T (p.Trp2248Cys)	CA255218	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2775445	biolink:SequenceVariant	NM_000132.4:c.2087C>T	CA414909018	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2775444	biolink:SequenceVariant	NM_000132.4:c.1899G>T	CA414910251	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:627165	biolink:SequenceVariant	NM_000132.3(F8):c.979C>G (p.Leu327Val)	CA414917679	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:449370	biolink:SequenceVariant	NM_000132.4(F8):c.599A>G (p.Glu200Gly)	CA10568575	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:618104	biolink:SequenceVariant	NM_000132.3(F8):c.1094A>G (p.Tyr365Cys)	CA10568501	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10226	biolink:SequenceVariant	NM_000132.3(F8):c.1660A>G (p.Ser554Gly)	CA255116	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10225	biolink:SequenceVariant	NM_000132.4(F8):c.1649G>A (p.Arg550His)	CA255115	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2130981	biolink:SequenceVariant	NM_001754.5(RUNX1):c.206G>T (p.Gly69Val)	CA10014568	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:580214	biolink:SequenceVariant	NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln)	CA10014380	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:843571	biolink:SequenceVariant	NM_001754.5(RUNX1):c.-5_4del (p.Met1_Ala2del)	CA916081960	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1692640	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1186T>A (p.Phe396Ile)	CA410147834	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:948047	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1090A>T (p.Ile364Phe)	CA410148169	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1053850	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1025T>C (p.Ile342Thr)	CA410148525	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:837414	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1123A>C (p.Thr375Pro)	CA410148042	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1424427	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1309A>G (p.Thr437Ala)	CA410147422	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2435493	biolink:SequenceVariant	NM_001754.5(RUNX1):c.619C>G (p.Arg207Gly)	CA410207205	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1482695	biolink:SequenceVariant	NM_001754.5(RUNX1):c.646C>T (p.Pro216Ser)	CA410207059	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1722154	biolink:SequenceVariant	NM_001754.5(RUNX1):c.418T>C (p.Tyr140His)	CA410202653	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2047695	biolink:SequenceVariant	NM_001754.5(RUNX1):c.415A>G (p.Asn139Asp)	CA410202662	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1487660	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1297A>G (p.Thr433Ala)	CA410147465	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1722136	biolink:SequenceVariant	NM_001754.5(RUNX1):c.251A>G (p.Asp84Gly)	CA410203802	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1692648	biolink:SequenceVariant	NM_001754.5(RUNX1):c.731C>T (p.Ala244Val)	CA410206802	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1352428	biolink:SequenceVariant	NM_001754.5(RUNX1):c.160G>C (p.Glu54Gln)	CA410204074	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:951606	biolink:SequenceVariant	NM_001754.5(RUNX1):c.946G>C (p.Glu316Gln)	CA10014264	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464004	biolink:SequenceVariant	NM_001754.5(RUNX1):c.712G>A (p.Val238Ile)	CA10014370	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1703791	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1008C>G (p.Phe336Leu)	CA320251605	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1024050	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1412G>A (p.Arg471His)	CA410146714	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:239046	biolink:SequenceVariant	NM_001754.5(RUNX1):c.232A>T (p.Met78Leu)	CA10583885	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202636	biolink:SequenceVariant	NM_001754.5:c.425C>A	CA410202636	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:436615	biolink:SequenceVariant	NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp)	CA410207207	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:853648	biolink:SequenceVariant	NM_001754.5(RUNX1):c.59-6T>C	CA916081959	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:856424	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser)	CA410147848	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:860155	biolink:SequenceVariant	NM_001754.5(RUNX1):c.791A>G (p.Gln264Arg)	CA410206682	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1496304	biolink:SequenceVariant	NM_001754.5(RUNX1):c.935C>A (p.Thr312Asn)	CA410149625	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463983	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1400C>A (p.Ala467Glu)	CA410146806	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1709200	biolink:SequenceVariant	NM_001754.5(RUNX1):c.302TGC[1] (p.Leu102del)	CA645607432	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1016458	biolink:SequenceVariant	NM_001754.5(RUNX1):c.617A>G (p.His206Arg)	CA410207216	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:962678	biolink:SequenceVariant	NM_001754.5(RUNX1):c.928A>T (p.Met310Leu)	CA410149642	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:959847	biolink:SequenceVariant	NM_001754.5(RUNX1):c.763C>A (p.His255Asn)	CA410206743	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:956754	biolink:SequenceVariant	NM_001754.5(RUNX1):c.689A>G (p.Gln230Arg)	CA410206888	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:949338	biolink:SequenceVariant	NM_001754.5(RUNX1):c.145C>A (p.Pro49Thr)	CA320642967	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:860286	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val)	CA410148597	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:845897	biolink:SequenceVariant	NM_001754.5(RUNX1):c.695G>A (p.Arg232Gln)	CA10014376	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:655133	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1076C>G (p.Pro359Arg)	CA410148208	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1401789	biolink:SequenceVariant	NM_001754.5(RUNX1):c.463G>C (p.Val155Leu)	CA10014508	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:570999	biolink:SequenceVariant	NM_001754.5(RUNX1):c.581_586del (p.Lys194_Ile195del)	CA891844469	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1359458	biolink:SequenceVariant	NM_001754.5(RUNX1):c.999_1010dup (p.Arg334_Pro337dup)	CA2573157363	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2087940	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1238_1240del (p.Ser413del)	CA2580098646	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1115091	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1221C>T (p.Tyr407=)	CA320251360	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409825	biolink:SequenceVariant	NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys)	CA10014374	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561241	biolink:SequenceVariant	NM_001754.5(RUNX1):c.494_508+5dup	CA658824415	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:862114	biolink:SequenceVariant	NM_001754.5(RUNX1):c.822A>T (p.Gln274His)	CA10014288	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561239	biolink:SequenceVariant	NM_001754.5(RUNX1):c.437A>T (p.Asn146Ile)	CA410202611	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1692641	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1259GCG[3] (p.Gly421_Glu422insGly)	CA2577483399	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1692642	biolink:SequenceVariant	NM_001754.5(RUNX1):c.191_196del (p.Gly64_Ala65del)	CA2573157364	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1389496	biolink:SequenceVariant	NM_001754.5(RUNX1):c.133_135del (p.Thr45del)	CA2573157368	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202624	biolink:SequenceVariant	NM_001754.5:c.431T>A	CA410202624	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1005132	biolink:SequenceVariant	NM_001754.5(RUNX1):c.967+5G>A	CA2387257476	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:968245	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1291C>G (p.Pro431Ala)	CA410147492	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2145852	biolink:SequenceVariant	NM_001754.5(RUNX1):c.785A>G (p.Gln262Arg)	CA10014359	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1721206	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1072A>C (p.Thr358Pro)	CA410148231	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1128874	biolink:SequenceVariant	NM_001754.5(RUNX1):c.172C>T (p.Leu58=)	CA512318949	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1142515	biolink:SequenceVariant	NM_001754.5(RUNX1):c.806-7T>G	CA2387257554	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:935710	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1033C>T (p.Pro345Ser)	CA410148478	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:840868	biolink:SequenceVariant	NM_001754.5(RUNX1):c.45dup (p.Cys16fs)	CA916081958	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:641150	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu)	CA320251220	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:660172	biolink:SequenceVariant	NM_001754.5(RUNX1):c.414A>T (p.Glu138Asp)	CA320638000	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA16020817	biolink:SequenceVariant	NM_001354304.2:c.560G>A	CA16020817	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:2226	biolink:SequenceVariant	NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	CA020089	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:182978	biolink:SequenceVariant	NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	CA020197	HGNC:12687	NCBITaxon:9606	Homo sapiens
CLINVAR:988847	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)	CA410147626	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1097518	biolink:SequenceVariant	NM_001754.5(RUNX1):c.117C>T (p.Arg39=)	CA512318989	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1014459	biolink:SequenceVariant	NM_001754.5(RUNX1):c.559G>A (p.Ala187Thr)	CA410208052	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464003	biolink:SequenceVariant	NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)	CA410205754	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1125165	biolink:SequenceVariant	NM_001754.5(RUNX1):c.492C>G (p.Val164=)	CA10014504	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1094989	biolink:SequenceVariant	NM_001754.5(RUNX1):c.255C>T (p.His85=)	CA320642691	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1025166	biolink:SequenceVariant	NM_001754.5(RUNX1):c.85A>G (p.Arg29Gly)	CA410205692	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:239050	biolink:SequenceVariant	NM_001754.5(RUNX1):c.641C>T (p.Thr214Ile)	CA10014388	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:649370	biolink:SequenceVariant	NM_001754.5(RUNX1):c.422C>T (p.Ser141Leu)	CA410202641	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1009786	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1024A>G (p.Ile342Val)	CA410148531	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1077574	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-4G>A	CA320642989	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1417068	biolink:SequenceVariant	NM_001754.5(RUNX1):c.7del (p.Ser3fs)	CA2573157360	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2417866	biolink:SequenceVariant	NM_001754.5(RUNX1):c.719C>T (p.Pro240Leu)	CA410206829	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1524897	biolink:SequenceVariant	NM_001754.5(RUNX1):c.479A>G (p.Asp160Gly)	CA410202522	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1496240	biolink:SequenceVariant	NM_001754.5(RUNX1):c.533C>G (p.Thr178Ser)	CA410208106	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2071711	biolink:SequenceVariant	NM_001754.5(RUNX1):c.507A>G (p.Arg169_Gly170=)	CA512318634	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1156194	biolink:SequenceVariant	NM_001754.5(RUNX1):c.84T>C (p.Ser28=)	CA512319034	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1321699	biolink:SequenceVariant	NM_001754.5(RUNX1):c.296G>A (p.Cys99Tyr)	CA410203612	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1374525	biolink:SequenceVariant	NM_001754.5(RUNX1):c.455A>G (p.Lys152Arg)	CA320637875	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:964908	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1196G>A (p.Ser399Asn)	CA410147804	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1052351	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1427T>C (p.Val476Ala)	CA410146607	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1348351	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805+1G>T	CA410206641	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1723808	biolink:SequenceVariant	NM_001754.5(RUNX1):c.546C>G (p.Asn182Lys)	CA410208078	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:956982	biolink:SequenceVariant	NM_001754.5(RUNX1):c.475A>G (p.Asn159Asp)	CA410202533	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2163996	biolink:SequenceVariant	NM_001754.5(RUNX1):c.63C>A (p.Cys21Ter)	CA410205780	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:837795	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1073C>T (p.Thr358Met)	CA320251541	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1396766	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1070C>T (p.Pro357Leu)	CA10014211	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532667	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1069C>T (p.Pro357Ser)	CA10014212	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1010913	biolink:SequenceVariant	NM_001754.5(RUNX1):c.823C>T (p.Pro275Ser)	CA410150304	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1022052	biolink:SequenceVariant	NM_001754.5(RUNX1):c.443C>T (p.Thr148Ile)	CA410202597	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:837567	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508+5G>A	CA10014499	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2150091	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1197C>G (p.Ser399Arg)	CA410147801	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1951250	biolink:SequenceVariant	NM_001754.5(RUNX1):c.182C>G (p.Pro61Arg)	CA410203987	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1533052	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-17G>A	CA638054611	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2060504	biolink:SequenceVariant	NM_001754.5(RUNX1):c.803A>G (p.Gln268Arg)	CA410206649	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1514344	biolink:SequenceVariant	NM_001754.5(RUNX1):c.356T>C (p.Val119Ala)	CA410202782	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2002578	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1264G>A (p.Glu422Lys)	CA410147592	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:960077	biolink:SequenceVariant	NM_001754.5(RUNX1):c.674T>G (p.Leu225Arg)	CA410206927	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:999481	biolink:SequenceVariant	NM_001754.5(RUNX1):c.847C>A (p.Gln283Lys)	CA10014281	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA913179026	biolink:SequenceVariant	NC_012920.1:m.8340G>A	CA913179026		NCBITaxon:9606	Homo sapiens
CLINVAR:9596	biolink:SequenceVariant	m.3260A>G	CA120566		NCBITaxon:9606	Homo sapiens
CLINVAR:689929	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.5536_5537insT	CA915952206		NCBITaxon:9606	Homo sapiens
CA2573320431	biolink:SequenceVariant	NC_012920.1:m.3273del	CA2573320431		NCBITaxon:9606	Homo sapiens
CLINVAR:430689	biolink:SequenceVariant	NC_012920.1:m.13051G>A	CA414816093		NCBITaxon:9606	Homo sapiens
CLINVAR:636202	biolink:SequenceVariant	NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)	CA340748193	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:870345	biolink:SequenceVariant	NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)	CA340748033	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:2678439	biolink:SequenceVariant	NM_000329.3(RPE65):c.354-2A>G	CA340748044	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:13115	biolink:SequenceVariant	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	CA226531	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA2580612188	biolink:SequenceVariant	NM_000329.3:c.1459_1460del	CA2580612188	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98868	biolink:SequenceVariant	NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)	CA226550	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:812758	biolink:SequenceVariant	NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)	CA340744135	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:874235	biolink:SequenceVariant	NM_000329.3(RPE65):c.859-11C>T	CA902362	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:298022	biolink:SequenceVariant	NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)	CA902383	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98843	biolink:SequenceVariant	NM_000329.3(RPE65):c.138del (p.Pro47fs)	CA226510	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:235698	biolink:SequenceVariant	NC_012920.1:m.9152T>C	CA10581404		NCBITaxon:9606	Homo sapiens
CLINVAR:39575	biolink:SequenceVariant	m.15923A>G	CA130372		NCBITaxon:9606	Homo sapiens
CLINVAR:618222	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.1619C>T	CA913163215		NCBITaxon:9606	Homo sapiens
CLINVAR:9682	biolink:SequenceVariant	m.15197T>C	CA120620		NCBITaxon:9606	Homo sapiens
CLINVAR:9680	biolink:SequenceVariant	m.15242G>A	CA120618		NCBITaxon:9606	Homo sapiens
CLINVAR:949591	biolink:SequenceVariant	NM_001754.5(RUNX1):c.647C>T (p.Pro216Leu)	CA10014387	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2088789	biolink:SequenceVariant	NM_001754.5(RUNX1):c.361C>G (p.Leu121Val)	CA410202773	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2089191	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1250C>T (p.Ser417Phe)	CA410147650	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1024911	biolink:SequenceVariant	NM_001754.5(RUNX1):c.242T>C (p.Val81Ala)	CA410203818	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2078130	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1148C>T (p.Pro383Leu)	CA410147953	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2151600	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1088G>C (p.Gly363Ala)	CA10014206	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2089328	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1280G>C (p.Arg427Pro)	CA410147522	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1986052	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1151C>T (p.Pro384Leu)	CA410147946	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988809	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-1G>A	CA410204328	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2094507	biolink:SequenceVariant	NM_001754.5(RUNX1):c.806-1G>A	CA410150422	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:627100	biolink:SequenceVariant	NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn)	CA410208006	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:660565	biolink:SequenceVariant	NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu)	CA410204032	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684453	biolink:SequenceVariant	NM_001754.5(RUNX1):c.389T>A (p.Val130Asp)	CA410202716	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:935114	biolink:SequenceVariant	NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys)	CA410206771	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1466432	biolink:SequenceVariant	NM_001754.5(RUNX1):c.658T>C (p.Ser220Pro)	CA410207002	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:971877	biolink:SequenceVariant	NM_001754.5(RUNX1):c.332C>T (p.Thr111Ile)	CA10014550	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:839213	biolink:SequenceVariant	NM_001754.5(RUNX1):c.968C>T (p.Thr323Met)	CA410148831	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1382220	biolink:SequenceVariant	NM_001754.5(RUNX1):c.723C>G (p.His241Gln)	CA410206821	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532669	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1006T>A (p.Phe336Ile)	CA10014222	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2126194	biolink:SequenceVariant	NM_001754.5(RUNX1):c.996C>G (p.Asp332Glu)	CA410148710	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532670	biolink:SequenceVariant	NM_001754.5(RUNX1):c.743A>C (p.Asn248Thr)	CA10014364	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2076125	biolink:SequenceVariant	NM_001754.5(RUNX1):c.968C>G (p.Thr323Arg)	CA320251671	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:838046	biolink:SequenceVariant	NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro)	CA410149662	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1713291	biolink:SequenceVariant	NM_001754.5(RUNX1):c.449C>A (p.Ala150Asp)	CA410202586	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532652	biolink:SequenceVariant	NM_001754.5(RUNX1):c.445G>A (p.Ala149Thr)	CA10014513	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1711954	biolink:SequenceVariant	NM_001754.5(RUNX1):c.895G>A (p.Ala299Thr)	CA320255506	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2183638	biolink:SequenceVariant	NM_001754.5(RUNX1):c.950T>G (p.Leu317Arg)	CA10014263	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:939981	biolink:SequenceVariant	NM_001754.5(RUNX1):c.959G>A (p.Arg320Gln)	CA10014260	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1716418	biolink:SequenceVariant	NM_001754.5(RUNX1):c.988T>G (p.Phe330Val)	CA410148771	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:953427	biolink:SequenceVariant	NM_001754.5(RUNX1):c.916C>T (p.Arg306Cys)	CA10014271	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:651472	biolink:SequenceVariant	NM_001754.4(RUNX1):c.973C>T (p.Pro325Ser)	CA10014230	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1055114	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1045T>C (p.Tyr349His)	CA410148360	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1951248	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu)	CA410148207	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2089097	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1078G>C (p.Val360Leu)	CA410148204	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:436612	biolink:SequenceVariant	NM_001754.5(RUNX1):c.99T>C (p.Asp33=)	CA512319003	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1521966	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1114G>A (p.Gly372Ser)	CA410148073	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:663526	biolink:SequenceVariant	NM_001754.5(RUNX1):c.790C>G (p.Gln264Glu)	CA10014357	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:665375	biolink:SequenceVariant	NM_001754.5(RUNX1):c.264G>C (p.Glu88Asp)	CA10014558	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1475629	biolink:SequenceVariant	NM_001754.5(RUNX1):c.613+6T>C	CA2573157346	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:30003	biolink:SequenceVariant	m.14674T>G	CA128830		NCBITaxon:9606	Homo sapiens
CLINVAR:36365	biolink:SequenceVariant	NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys)	CA214003	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:827573	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.562del (p.Ser188fs)	CA915949635	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:8757	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter)	CA119892	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:1517590	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.928-2A>G	CA398324410	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:827574	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs)	CA915949637	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:869415	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1465del (p.Gln489fs)	CA645592050	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:852208	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.361G>A (p.Ala121Thr)	CA8459205	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:644342	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.880G>C (p.Val294Leu)	CA398323707	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:827572	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.958C>T (p.Arg320Trp)	CA398324484	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:656631	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro)	CA398324519	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:1610976	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.124-17A>T	CA8459151	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:392379	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.962A>G (p.His321Arg)	CA16607552	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:422945	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.907del (p.Glu303fs)	CA16620349	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:858136	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1850_1854del (p.Tyr617fs)	CA916081984	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:423100	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1315del (p.Leu439fs)	CA16620353	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:536427	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.699+1G>T	CA398322535	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:1199408	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs)	CA2499223952	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:418218	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs)	CA16620352	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:2108802	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1367T>A (p.Leu456Ter)	CA398326165	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:660886	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1420C>T (p.Gln474Ter)	CA398326368	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:665887	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs)	CA915949641	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:827578	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1418del (p.Pro473fs)	CA915949642	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:626107	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1585del (p.Leu529fs)	CA398326766	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:1048525	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1370del (p.His457fs)	CA2499223953	HGNC:12765	NCBITaxon:9606	Homo sapiens
CA398323709	biolink:SequenceVariant	NM_003593.3:c.880G>A	CA398323709	HGNC:12765	NCBITaxon:9606	Homo sapiens
CA2497028945	biolink:SequenceVariant	NM_003593.3:c.1168del	CA2497028945	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:2726823	biolink:SequenceVariant	NM_003593.3:c.1135+5G>C	CA8459436	HGNC:12765	NCBITaxon:9606	Homo sapiens
CA2573320470	biolink:SequenceVariant	NM_003593.3:c.1275_1278del	CA2573320470	HGNC:12765	NCBITaxon:9606	Homo sapiens
CA2740089966	biolink:SequenceVariant	NM_003593.3:c.1296del	CA2740089966	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:1456275	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1010del (p.Gly337fs)	CA2573153469	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:412056	biolink:SequenceVariant	NM_177438.3(DICER1):c.1423A>T (p.Ser475Cys)	CA16614383	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:1723516	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1183C>G (p.Pro395Ala)	CA10014194	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:143774	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs)	CA170444	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:162370	biolink:SequenceVariant	NC_012920.1:m.5610G>A	CA274532		NCBITaxon:9606	Homo sapiens
CLINVAR:9609	biolink:SequenceVariant	m.12183G>A	CA120575		NCBITaxon:9606	Homo sapiens
CLINVAR:2018786	biolink:SequenceVariant	NM_175914.5(HNF4A):c.932G>T (p.Arg311Leu)	CA409108272	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA386965264	biolink:SequenceVariant	NM_001306179.2:c.694C>G	CA386965264	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:36801	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)	CA214266	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:562466	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)	CA386972013	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386972269	biolink:SequenceVariant	NM_001306179.2:c.1623+2T>C	CA386972269	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386973449	biolink:SequenceVariant	NM_001306179.2:c.1789+1G>T	CA386973449	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386973446	biolink:SequenceVariant	NM_001306179.2:c.1789+1G>C	CA386973446	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386972734	biolink:SequenceVariant	NM_001306179.2:c.1644G>A	CA386972734	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:14932	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)	CA214665	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2573051047	biolink:SequenceVariant	NM_022895.3:c.*3003_*3004del	CA2573051047	HGNC:25719	NCBITaxon:9606	Homo sapiens
CA367402230	biolink:SequenceVariant	NM_033508.3:c.361C>T	CA367402230	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1438546	biolink:SequenceVariant	NM_001754.5(RUNX1):c.585del (p.Thr196fs)	CA2573157347	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338044	biolink:SequenceVariant	NM_001754.5(RUNX1):c.830del (p.Pro277fs)	CA2573054928	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409824	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1283dup (p.Leu429fs)	CA16616491	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:934175	biolink:SequenceVariant	NM_001754.5(RUNX1):c.844_856del (p.Asp282fs)	CA1139666840	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1323540	biolink:SequenceVariant	NM_001754.5(RUNX1):c.957_958insG (p.Arg320fs)	CA2573054927	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338557	biolink:SequenceVariant	NM_001754.5(RUNX1):c.999dup (p.Arg334fs)	CA2573054926	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:640778	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1035_1036dup (p.Arg346fs)	CA915952603	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409819	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1159_1161del (p.Gly387del)	CA16616514	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1052786	biolink:SequenceVariant	NM_001754.5(RUNX1):c.238_243del (p.Glu80_Val81del)	CA10014564	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:858848	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1114_1125dup (p.Gly372_Thr375dup)	CA916081961	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2002610	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1098C>G (p.Ile366Met)	CA410148136	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2126320	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)	CA410148133	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1718102	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1016T>G (p.Leu339Arg)	CA410148583	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:960066	biolink:SequenceVariant	NM_001754.5(RUNX1):c.833C>T (p.Pro278Leu)	CA410150240	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2062797	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1036C>T (p.Arg346Cys)	CA410148460	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1003215	biolink:SequenceVariant	NM_001754.5(RUNX1):c.136G>A (p.Ala46Thr)	CA410204199	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2116304	biolink:SequenceVariant	NM_001754.5(RUNX1):c.557T>G (p.Val186Gly)	CA410208053	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1972477	biolink:SequenceVariant	NM_001754.5(RUNX1):c.893C>T (p.Pro298Leu)	CA410149706	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1471430	biolink:SequenceVariant	NM_001754.5(RUNX1):c.97+1G>T	CA410205628	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1067421	biolink:SequenceVariant	NM_001754.5(RUNX1):c.97+1G>A	CA10014628	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409806	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1166_1186dup (p.Ser389_Pro395dup)	CA16616266	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1999266	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1037G>C (p.Arg346Pro)	CA410148448	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1040855	biolink:SequenceVariant	NM_001754.5(RUNX1):c.792G>C (p.Gln264His)	CA410206679	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:649413	biolink:SequenceVariant	NM_001754.5(RUNX1):c.220G>C (p.Gly74Arg)	CA410203869	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2011243	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1092C>G (p.Ile364Met)	CA410148157	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1937674	biolink:SequenceVariant	NM_001754.5(RUNX1):c.185A>G (p.Asp62Gly)	CA410203979	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2008544	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1085C>T (p.Ser362Leu)	CA410148181	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:579883	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1202C>T (p.Pro401Leu)	CA410147789	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2029145	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+3A>G	CA2580098625	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2029256	biolink:SequenceVariant	NM_001754.5(RUNX1):c.596G>C (p.Gly199Ala)	CA410207965	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202496	biolink:SequenceVariant	NM_001754.5:c.493G>C	CA410202496	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:854130	biolink:SequenceVariant	NM_001754.5(RUNX1):c.976G>A (p.Asp326Asn)	CA410148819	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1381966	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1347G>C (p.Gln449His)	CA410147212	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532653	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1196G>C (p.Ser399Thr)	CA410147803	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1130279	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-5A>G	CA2499225880	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464007	biolink:SequenceVariant	NM_001754.5(RUNX1):c.770C>T (p.Thr257Ile)	CA410206725	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:581130	biolink:SequenceVariant	NM_001754.5(RUNX1):c.577A>G (p.Ile193Val)	CA410208010	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:661459	biolink:SequenceVariant	NM_001754.5(RUNX1):c.122C>T (p.Thr41Met)	CA10014590	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:262915	biolink:SequenceVariant	NM_175914.5(HNF4A):c.670+18C>A	CA10587354	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:424599	biolink:SequenceVariant	NM_175914.5(HNF4A):c.926G>A (p.Arg309His)	CA9870414	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:987830	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1309C>A (p.Pro437Thr)	CA409110472	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA414914390	biolink:SequenceVariant	NM_000132.4:c.1420G>A	CA414914390	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:10606	biolink:SequenceVariant	NM_000133.3(F9):c.1009G>C (p.Ala337Pro)	CA255378	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:376647	biolink:SequenceVariant	NM_001126112.2(TP53):c.431A>T (p.Gln144Leu)	CA16603064	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:9558	biolink:SequenceVariant	m.5545C>T	CA120543		NCBITaxon:9606	Homo sapiens
CLINVAR:30002	biolink:SequenceVariant	m.5816A>G	CA128829		NCBITaxon:9606	Homo sapiens
CLINVAR:9598	biolink:SequenceVariant	NC_012920.1(MT-TL1):m.3274A>G	CA120568		NCBITaxon:9606	Homo sapiens
CLINVAR:870573	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.590A>G	CA913175543		NCBITaxon:9606	Homo sapiens
CLINVAR:9575	biolink:SequenceVariant	m.622G>A	CA120551		NCBITaxon:9606	Homo sapiens
CLINVAR:690090	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.9997T>A	CA913182452		NCBITaxon:9606	Homo sapiens
CLINVAR:9611	biolink:SequenceVariant	m.9997T>C	CA254843		NCBITaxon:9606	Homo sapiens
CLINVAR:289	biolink:SequenceVariant	NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)	CA114125	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:309	biolink:SequenceVariant	NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg)	CA228410	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:31009	biolink:SequenceVariant	NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys)	CA228408	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100503	biolink:SequenceVariant	NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser)	CA228847	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:302	biolink:SequenceVariant	NM_000552.5(VWF):c.3940G>C (p.Val1314Leu)	CA114151	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:295	biolink:SequenceVariant	NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	CA114137	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:296	biolink:SequenceVariant	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	CA114139	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100220	biolink:SequenceVariant	NM_000552.4(VWF):c.2435C>T (p.Pro812Leu)	CA228340	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:209173	biolink:SequenceVariant	NC_012920.1:m.14597A>G	CA250381		NCBITaxon:9606	Homo sapiens
CLINVAR:1703401	biolink:SequenceVariant	NM_000552.5(VWF):c.3788C>T (p.Ser1263Leu)	CA6402670	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:288	biolink:SequenceVariant	NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp)	CA114123	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:9690	biolink:SequenceVariant	m.14596A>T	CA120626		NCBITaxon:9606	Homo sapiens
CLINVAR:290	biolink:SequenceVariant	NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	CA114127	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:374080	biolink:SequenceVariant	NC_012920.1:m.14598T>C	CA16043602		NCBITaxon:9606	Homo sapiens
CLINVAR:285	biolink:SequenceVariant	NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp)	CA114117	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100306	biolink:SequenceVariant	NM_000552.4(VWF):c.3929C>T (p.Ser1310Phe)	CA228494	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100311	biolink:SequenceVariant	NM_000552.5(VWF):c.3944G>A (p.Arg1315His)	CA228504	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:1003438	biolink:SequenceVariant	NM_001754.5(RUNX1):c.256C>G (p.Pro86Ala)	CA320642689	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1004688	biolink:SequenceVariant	NM_001754.5(RUNX1):c.599C>A (p.Pro200His)	CA410207960	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1046092	biolink:SequenceVariant	NM_001754.5(RUNX1):c.957_959del (p.Ser319del)	CA2387257481	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1036141	biolink:SequenceVariant	NM_001754.5(RUNX1):c.872T>C (p.Ile291Thr)	CA10014278	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:837191	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1322T>C (p.Leu441Pro)	CA10014186	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409805	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1253T>G (p.Met418Arg)	CA10014190	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338110	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1218C>T (p.Tyr406=)	CA512341217	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338109	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1219T>A (p.Tyr407Asn)	CA410147753	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:934637	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1267C>T (p.Arg423Cys)	CA410147574	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1114376	biolink:SequenceVariant	NM_001754.5(RUNX1):c.891C>T (p.His297=)	CA512232233	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1141521	biolink:SequenceVariant	NM_001754.5(RUNX1):c.513A>G (p.Lys171=)	CA512319134	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1082500	biolink:SequenceVariant	NM_001754.5(RUNX1):c.27A>C (p.Ser9=)	CA512319211	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339848	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1213C>G	CA10644630	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:943347	biolink:SequenceVariant	NM_001754.5(RUNX1):c.140T>A (p.Leu47Gln)	CA10014588	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2067048	biolink:SequenceVariant	NM_001754.5:c.991A>G	CA320251648	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:938322	biolink:SequenceVariant	NM_001754.5(RUNX1):c.884C>T (p.Ser295Phe)	CA320255546	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410147693	biolink:SequenceVariant	NM_001754.5:c.1243C>G	CA410147693	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1035236	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1191A>T (p.Gln397His)	CA410147814	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1035156	biolink:SequenceVariant	NM_001754.5(RUNX1):c.727C>A (p.Pro243Thr)	CA410206811	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1023243	biolink:SequenceVariant	NM_001754.5(RUNX1):c.991A>C (p.Ser331Arg)	CA410148750	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1014442	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1292C>T (p.Pro431Leu)	CA410147485	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1055398	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1019C>T (p.Pro340Leu)	CA410148557	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:760670	biolink:SequenceVariant	NM_001754.5(RUNX1):c.861C>T (p.Tyr287=)	CA512232261	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1009232	biolink:SequenceVariant	NM_001754.5(RUNX1):c.74T>G (p.Met25Arg)	CA410205735	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:579777	biolink:SequenceVariant	NM_001754.5(RUNX1):c.104G>A (p.Ser35Asn)	CA410204312	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:517187	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-20_98-18del	CA658799414	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1155928	biolink:SequenceVariant	NM_001754.5(RUNX1):c.735C>T (p.Pro245=)	CA320603659	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1162089	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1383C>T (p.Asn461=)	CA512232137	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:568926	biolink:SequenceVariant	NM_001754.5(RUNX1):c.779A>G (p.Asn260Ser)	CA410206706	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:642864	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1342A>T (p.Asn448Tyr)	CA410147245	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1337164	biolink:SequenceVariant	NM_001754.5:c.252C>G	CA16622098	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410147963	biolink:SequenceVariant	NM_001754.5:c.1145C>T	CA410147963	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:566052	biolink:SequenceVariant	NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala)	CA410202644	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532658	biolink:SequenceVariant	NM_001754.4(RUNX1):c.1196G>T (p.Ser399Ile)	CA320251372	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409814	biolink:SequenceVariant	NM_001754.4(RUNX1):c.56G>A (p.Arg19Lys)	CA10014724	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1450492	biolink:SequenceVariant	NM_001754.5:c.257C>T	CA410203786	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561232	biolink:SequenceVariant	NM_001754.4(RUNX1):c.305T>A (p.Leu102Gln)	CA410203565	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:561247	biolink:SequenceVariant	NM_001754.4(RUNX1):c.554A>C (p.Gln185Pro)	CA410208062	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:619750	biolink:SequenceVariant	NM_000552.5(VWF):c.4130C>T (p.Ala1377Val)	CA6402597	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:291	biolink:SequenceVariant	NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln)	CA114129	HGNC:12726	NCBITaxon:9606	Homo sapiens
CA383503778	biolink:SequenceVariant	NM_000552.5:c.4225G>T	CA383503778	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:619752	biolink:SequenceVariant	NM_000552.5(VWF):c.4241T>G (p.Val1414Gly)	CA383503586	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100343	biolink:SequenceVariant	NM_000552.5(VWF):c.4244G>A (p.Gly1415Asp)	CA228567	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100337	biolink:SequenceVariant	NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	CA228555	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:293	biolink:SequenceVariant	NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	CA114133	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100356	biolink:SequenceVariant	NM_000552.5(VWF):c.4399C>T (p.Pro1467Ser)	CA228592	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:284	biolink:SequenceVariant	NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	CA114115	HGNC:12726	NCBITaxon:9606	Homo sapiens
CA383496428	biolink:SequenceVariant	NM_000552.5:c.5140G>C	CA383496428	HGNC:12726	NCBITaxon:9606	Homo sapiens
CA383495656	biolink:SequenceVariant	NM_000552.5:c.5336G>T	CA383495656	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:1723280	biolink:SequenceVariant	NM_000552.5(VWF):c.6104G>A (p.Gly2035Asp)	CA6402069	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:627354	biolink:SequenceVariant	NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)	CA6401966	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100450	biolink:SequenceVariant	NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)	CA228760	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100309	biolink:SequenceVariant	NM_000552.5(VWF):c.3941T>A (p.Val1314Asp)	CA228500	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:306	biolink:SequenceVariant	NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)	CA114158	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:324987	biolink:SequenceVariant	NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	CA8337740	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:203572	biolink:SequenceVariant	NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)	CA312251	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:889087	biolink:SequenceVariant	NM_000018.4(ACADVL):c.343-14T>C	CA8337678	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1684006	biolink:SequenceVariant	NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr)	CA383520272	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:294	biolink:SequenceVariant	NM_000552.4(VWF):c.2372C>T (p.Thr791Met)	CA114135	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100421	biolink:SequenceVariant	NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys)	CA228706	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100326	biolink:SequenceVariant	NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)	CA228533	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:300	biolink:SequenceVariant	NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser)	CA114147	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:318	biolink:SequenceVariant	NM_000552.4(VWF):c.1583A>G (p.Asn528Ser)	CA114178	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100313	biolink:SequenceVariant	NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala)	CA228508	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100308	biolink:SequenceVariant	NM_000552.5(VWF):c.3940G>T (p.Val1314Phe)	CA228498	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:692533	biolink:SequenceVariant	NC_012920.1(MT-ND2):m.5001dup	CA915952202		NCBITaxon:9606	Homo sapiens
CLINVAR:9720	biolink:SequenceVariant	m.4810G>A	CA120642		NCBITaxon:9606	Homo sapiens
CLINVAR:9700	biolink:SequenceVariant	m.13045A>C	CA120629		NCBITaxon:9606	Homo sapiens
CA410146486	biolink:SequenceVariant	NM_001754.5:c.1441T>G	CA410146486	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463980	biolink:SequenceVariant	NM_001754.5(RUNX1):c.127C>T (p.Pro43Ser)	CA410204228	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409823	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp)	CA16616259	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409816	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1387C>T (p.Pro463Ser)	CA16616503	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:239053	biolink:SequenceVariant	NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys)	CA10583884	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:239041	biolink:SequenceVariant	NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly)	CA10014734	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1439732	biolink:SequenceVariant	NM_001754.5(RUNX1):c.352G>T (p.Val118Leu)	CA410202790	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:959039	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1070C>G (p.Pro357Arg)	CA10014210	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1022744	biolink:SequenceVariant	NM_001754.5(RUNX1):c.938T>C (p.Leu313Pro)	CA410149618	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1466670	biolink:SequenceVariant	NM_001754.5(RUNX1):c.891C>A (p.His297Gln)	CA410149713	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1051210	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1412G>T (p.Arg471Leu)	CA410146710	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2166136	biolink:SequenceVariant	NM_001754.5(RUNX1):c.490G>A (p.Val164Ile)	CA10014505	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338528	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508G>C (p.Gly170Arg)	CA410202466	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA916084356	biolink:SequenceVariant	NM_001122607.2:c.403_404delinsGC	CA916084356	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:9701	biolink:SequenceVariant	m.13084A>T	CA120631		NCBITaxon:9606	Homo sapiens
CA2825000789	biolink:SequenceVariant	NM_000419.5:c.1947-9T>C	CA2825000789	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:18016	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys)	CA210762	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18003	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)	CA210746	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18010	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu)	CA210754	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:633211	biolink:SequenceVariant	NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr)	CA392336648	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:42402	biolink:SequenceVariant	NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)	CA016465	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200084	biolink:SequenceVariant	NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)	CA016472	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:547340	biolink:SequenceVariant	NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)	CA392336264	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:429425	biolink:SequenceVariant	NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg)	CA392335055	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:492830	biolink:SequenceVariant	NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)	CA392333555	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:384344	biolink:SequenceVariant	NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)	CA057276	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:632813	biolink:SequenceVariant	NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser)	CA392331872	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495644	biolink:SequenceVariant	NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr)	CA392330332	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:222610	biolink:SequenceVariant	NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)	CA353663	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:36118	biolink:SequenceVariant	NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	CA017349	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:571222	biolink:SequenceVariant	NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)	CA392324665	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:423498	biolink:SequenceVariant	NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe)	CA16619939	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:42436	biolink:SequenceVariant	NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)	CA017451	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:381609	biolink:SequenceVariant	NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)	CA16606683	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:16439	biolink:SequenceVariant	NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	CA017692	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:42443	biolink:SequenceVariant	NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)	CA017709	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:547349	biolink:SequenceVariant	NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	CA658824375	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:263414	biolink:SequenceVariant	NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)	CA10587783	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:547309	biolink:SequenceVariant	NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)	CA392325981	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:519760	biolink:SequenceVariant	NM_000138.5(FBN1):c.5065+2dup	CA658798355	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:520496	biolink:SequenceVariant	NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)	CA658798354	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:618119	biolink:SequenceVariant	NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)	CA392337255	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:547338	biolink:SequenceVariant	NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)	CA392337017	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1098776	biolink:SequenceVariant	NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)	CA392327764	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495662	biolink:SequenceVariant	NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr)	CA392350265	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:1791142	biolink:SequenceVariant	NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)	CA8970612	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:205491	biolink:SequenceVariant	NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)	CA314620	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:589694	biolink:SequenceVariant	NM_005249.5(FOXG1):c.315GCC[4] (p.Pro112dup)	CA891844334	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:205483	biolink:SequenceVariant	NM_005249.5(FOXG1):c.503G>T (p.Gly168Val)	CA314606	HGNC:3811	NCBITaxon:9606	Homo sapiens
CLINVAR:427212	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)	CA287437666	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:426177	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)	CA287437667	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:418711	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)	CA16620600	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:2757098	biolink:SequenceVariant	NM_001754.5(RUNX1):c.228dup (p.Ser77fs)	CA2697547499	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2839411	biolink:SequenceVariant	NM_001754.5(RUNX1):c.656_674del (p.Leu219fs)	CA2739267609	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2701885	biolink:SequenceVariant	NM_001754.5(RUNX1):c.695_696del (p.Arg232fs)	CA2697547495	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2029556	biolink:SequenceVariant	NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)	CA2580098645	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2911507	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+2T>C	CA410203331	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410148059	biolink:SequenceVariant	NM_001754.5:c.1118C>A	CA410148059	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1211932	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1221C>G (p.Tyr407Ter)	CA410147747	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2840535	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1014_1033del (p.Leu339fs)	CA2739267607	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2808406	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1432_1433del (p.Arg478fs)	CA2739267603	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2857333	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1271_1272insTCTC (p.Pro425fs)	CA2739267605	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2857331	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1295dup (p.Cys432fs)	CA2739267604	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2746077	biolink:SequenceVariant	NM_001754.5(RUNX1):c.356dup (p.Ala120fs)	CA645607413	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2808511	biolink:SequenceVariant	NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)	CA2739267614	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:931873	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs)	CA1139666837	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:435438	biolink:SequenceVariant	NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)	CA409107461	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447522	biolink:SequenceVariant	NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter)	CA409107472	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:9210	biolink:SequenceVariant	NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter)	CA120182	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:437910	biolink:SequenceVariant	NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu)	CA409107507	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2695217482	biolink:SequenceVariant	NM_001306179.2:c.68_69del	CA2695217482	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2695216034	biolink:SequenceVariant	NM_000552.5:c.4678_4680dup	CA2695216034	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100231	biolink:SequenceVariant	NM_000552.5(VWF):c.2635G>A (p.Asp879Asn)	CA228357	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:515407	biolink:SequenceVariant	NM_000152.5(GAA):c.1437+19G>A	CA8815324	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:507529	biolink:SequenceVariant	NM_000152.5(GAA):c.-32-5C>T	CA8814744	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:510672	biolink:SequenceVariant	NM_000152.5(GAA):c.1629C>T (p.Tyr543=)	CA8815394	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:193975	biolink:SequenceVariant	NM_000152.5(GAA):c.1722C>T (p.Leu574=)	CA239730	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:864108	biolink:SequenceVariant	NM_000152.5(GAA):c.842G>A (p.Arg281Gln)	CA8815026	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:642648	biolink:SequenceVariant	NM_000152.5(GAA):c.725C>A (p.Ala242Glu)	CA8815003	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:182963	biolink:SequenceVariant	NM_000546.6(TP53):c.524G>T (p.Arg175Leu)	CA000252	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12374	biolink:SequenceVariant	NM_000546.6(TP53):c.524G>A (p.Arg175His)	CA000251	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:376649	biolink:SequenceVariant	NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	CA16603066	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:215996	biolink:SequenceVariant	NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	CA337802	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:12371	biolink:SequenceVariant	NM_000546.6(TP53):c.105G>T (p.Leu35Phe)	CA000025	HGNC:11998	NCBITaxon:9606	Homo sapiens
CLINVAR:102645	biolink:SequenceVariant	NM_000277.3(PAH):c.283A>T (p.Ile95Phe)	CA229507	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102728	biolink:SequenceVariant	NM_000277.3(PAH):c.533A>T (p.Glu178Val)	CA229611	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102575	biolink:SequenceVariant	NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)	CA229411	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102895	biolink:SequenceVariant	NM_000277.1(PAH):c.922C>G (p.Leu308Val)	CA229849	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020839	biolink:SequenceVariant	NM_000277.1:c.686A>G	CA16020839	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020814	biolink:SequenceVariant	NM_001354304.2:c.548A>G	CA16020814	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020783	biolink:SequenceVariant	NM_001354304.2:c.395C>T	CA16020783	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:252114	biolink:SequenceVariant	NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro)	CA10585682	HGNC:6547	NCBITaxon:9606	Homo sapiens
CA1139655403	biolink:SequenceVariant	NM_175914.5:c.185del	CA1139655403	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA386965322	biolink:SequenceVariant	NM_001306179.2:c.700G>T	CA386965322	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386958847	biolink:SequenceVariant	NM_001306179.2:c.339G>A	CA386958847	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2837589098	biolink:SequenceVariant	NM_001306179.2:c.1207del	CA2837589098	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972751	biolink:SequenceVariant	NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	CA386958889	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:2746579	biolink:SequenceVariant	NM_000545.8(HNF1A):c.498C>A (p.Tyr166Ter)	CA386960572	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1398400	biolink:SequenceVariant	NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser)	CA2061546	HGNC:1078	NCBITaxon:9606	Homo sapiens
CA409106119	biolink:SequenceVariant	NM_175914.5:c.539C>T	CA409106119	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:586009	biolink:SequenceVariant	NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln)	CA409108340	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:977222	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys)	CA350341606	HGNC:1078	NCBITaxon:9606	Homo sapiens
CA1139655404	biolink:SequenceVariant	NM_175914.5:c.256_257del	CA1139655404	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:425733	biolink:SequenceVariant	NM_001204.7(BMPR2):c.247+6T>G	CA645294003	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425842	biolink:SequenceVariant	NM_001204.7(BMPR2):c.908G>A (p.Arg303His)	CA2061247	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425844	biolink:SequenceVariant	NM_001204.7(BMPR2):c.932G>A (p.Gly311Glu)	CA350340846	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:2854758	biolink:SequenceVariant	NM_001754.5(RUNX1):c.318G>A (p.Trp106Ter)	CA410203500	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2635335	biolink:SequenceVariant	NM_001754.5(RUNX1):c.311del (p.Thr104fs)	CA2695201453	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2820865	biolink:SequenceVariant	NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)	CA2739267616	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2759299	biolink:SequenceVariant	NM_001754.5(RUNX1):c.424del (p.Ala142fs)	CA645607374	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2705087	biolink:SequenceVariant	NM_001754.5(RUNX1):c.132dup (p.Thr45fs)	CA2697547500	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2101398	biolink:SequenceVariant	NM_001754.5(RUNX1):c.146del (p.Pro49fs)	CA2580098653	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2106464	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1277dup (p.Arg427fs)	CA2580098640	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2579542	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1345C>T (p.Gln449Ter)	CA410147225	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2028205	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1417G>T (p.Glu473Ter)	CA410146662	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2008798	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1233_1236dup (p.Ser413fs)	CA2580616386	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684398	biolink:SequenceVariant	NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter)	CA410149567	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1460663	biolink:SequenceVariant	NM_001754.5(RUNX1):c.965del (p.Leu321_Ser322insTer)	CA2573157369	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1338564	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1142_1145dup (p.Pro383fs)	CA2573054925	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1041897	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1214_1217dup (p.Tyr407fs)	CA645614063	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1045299	biolink:SequenceVariant	NM_001754.5(RUNX1):c.316T>C (p.Trp106Arg)	CA410203507	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410207977	biolink:SequenceVariant	NM_001754.5:c.592G>A	CA410207977	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2092471	biolink:SequenceVariant	NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)	CA2580098648	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:252115	biolink:SequenceVariant	NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)	CA10585683	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:205591	biolink:SequenceVariant	NM_000156.6(GAMT):c.1A>G (p.Met1Val)	CA314826	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:2137773	biolink:SequenceVariant	NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)	CA9043527	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205582	biolink:SequenceVariant	NM_000156.6(GAMT):c.575C>T (p.Thr192Met)	CA314808	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:2815164	biolink:SequenceVariant	NM_001754.5(RUNX1):c.397A>G (p.Met133Val)	CA410202702	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1142221	biolink:SequenceVariant	NM_001754.5(RUNX1):c.352-12_352-9del	CA2499225878	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2042433	biolink:SequenceVariant	NM_001754.5(RUNX1):c.509-13C>T	CA10014482	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1473511	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1175A>G (p.Gln392Arg)	CA410147867	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1349433	biolink:SequenceVariant	NM_001754.5(RUNX1):c.782C>T (p.Pro261Leu)	CA410206697	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2769013	biolink:SequenceVariant	NM_001754.5(RUNX1):c.86G>A (p.Arg29Lys)	CA410205685	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1967828	biolink:SequenceVariant	NM_001754.5(RUNX1):c.920C>T (p.Ala307Val)	CA410149655	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2958710	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1127G>A (p.Arg376His)	CA410148028	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2912699	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1254G>C (p.Met418Ile)	CA410147636	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2825312	biolink:SequenceVariant	NM_001754.5(RUNX1):c.952dup (p.Ser318fs)	CA645614129	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2763182	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1031A>T (p.Asp344Val)	CA410148496	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2807004	biolink:SequenceVariant	NM_001754.5(RUNX1):c.193G>C (p.Ala65Pro)	CA410203954	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2737781	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1357G>A (p.Val453Met)	CA410147163	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2737296	biolink:SequenceVariant	NM_001754.5(RUNX1):c.869C>G (p.Ser290Cys)	CA10014279	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2917126	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1046A>G (p.Tyr349Cys)	CA410148358	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:855888	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1378A>G (p.Ser460Gly)	CA410147021	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2695627	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1306T>G (p.Ser436Ala)	CA410147431	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1002574	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1199C>T (p.Ser400Leu)	CA410147797	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1487422	biolink:SequenceVariant	NM_001754.5(RUNX1):c.762C>G (p.Asn254Lys)	CA410206745	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1006857	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1082C>T (p.Thr361Ile)	CA320251539	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2725991	biolink:SequenceVariant	NM_001754.5(RUNX1):c.31C>A (p.Pro11Thr)	CA410208245	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2916977	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1118C>T (p.Ser373Leu)	CA410148056	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2823780	biolink:SequenceVariant	NM_001754.5(RUNX1):c.959G>T (p.Arg320Leu)	CA410149578	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1363734	biolink:SequenceVariant	NM_001754.5(RUNX1):c.361C>A (p.Leu121Ile)	CA410202774	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3009082	biolink:SequenceVariant	NM_001754.5(RUNX1):c.343G>A (p.Ala115Thr)	CA410203375	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1507948	biolink:SequenceVariant	NM_001754.5(RUNX1):c.899C>G (p.Thr300Arg)	CA410149697	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2734274	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1203del (p.Ser402fs)	CA2697547490	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1948845	biolink:SequenceVariant	NM_001754.5(RUNX1):c.58+8C>T	CA748915368	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1470171	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1295G>C (p.Cys432Ser)	CA410147474	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2718142	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1362G>T (p.Glu454Asp)	CA410147139	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2630595	biolink:SequenceVariant	NM_001754.5(RUNX1):c.188C>T (p.Ala63Val)	CA10014572	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2972103	biolink:SequenceVariant	NM_001754.5(RUNX1):c.877T>C (p.Ser293Pro)	CA410150061	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1400931	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1139A>G (p.Tyr380Cys)	CA410147984	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2850045	biolink:SequenceVariant	NM_001754.5(RUNX1):c.560C>T (p.Ala187Val)	CA410208047	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2716140	biolink:SequenceVariant	NM_001754.5(RUNX1):c.572G>A (p.Arg191Lys)	CA410208022	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA2830665544	biolink:SequenceVariant	NM_001754.5:c.331_336del	CA2830665544	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1463552	biolink:SequenceVariant	NM_001754.5(RUNX1):c.509-3C>G	CA645608316	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:252173	biolink:SequenceVariant	NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)	CA038175	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3712	biolink:SequenceVariant	FH Vancouver 4	-		NCBITaxon:9606	Homo sapiens
CLINVAR:2637205	biolink:SequenceVariant	NM_001754.5(RUNX1):c.482T>A (p.Leu161His)	CA410202515	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2730931	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1295G>A (p.Cys432Tyr)	CA410147476	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2764958	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1162_1163delinsAA (p.Ser388Lys)	CA2697547491	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:580765	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1201C>T (p.Pro401Ser)	CA410147792	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1057975	biolink:SequenceVariant	NM_001754.5(RUNX1):c.358G>A (p.Ala120Thr)	CA410202778	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1438740	biolink:SequenceVariant	NM_001754.5(RUNX1):c.349A>G (p.Lys117Glu)	CA410203349	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:812738	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1164del (p.Ser389fs)	CA915952602	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:942577	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1423G>A (p.Ala475Thr)	CA410146634	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1437357	biolink:SequenceVariant	NM_001754.5(RUNX1):c.451A>G (p.Met151Val)	CA10014512	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463999	biolink:SequenceVariant	NM_001754.4(RUNX1):c.623A>T (p.Gln208Leu)	CA10014390	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463977	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)	CA320251476	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410207999	biolink:SequenceVariant	NM_001754.5:c.581A>T	CA410207999	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2846862	biolink:SequenceVariant	NM_001754.5(RUNX1):c.330_331delinsTT (p.Lys110_Thr111delinsAsnSer)	CA2739267618	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2719217	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1321_1322delinsTG (p.Leu441Trp)	CA2697547488	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:897094	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3638G>A	CA914658966	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2743644	biolink:SequenceVariant	NM_001754.5(RUNX1):c.767C>T (p.Ser256Phe)	CA410206731	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2789785	biolink:SequenceVariant	NM_001754.5(RUNX1):c.722A>G (p.His241Arg)	CA410206824	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1014373	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1120G>A (p.Ala374Thr)	CA410148053	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339798	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*4003C>T	CA10644611	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678494	biolink:SequenceVariant	NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)	CA410202721	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2993180	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1171G>C (p.Ala391Pro)	CA10014195	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339819	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2822C>T	CA10644617	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2769330	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1040T>G (p.Met347Arg)	CA410148429	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2805900	biolink:SequenceVariant	NM_001754.5(RUNX1):c.546C>A (p.Asn182Lys)	CA10014479	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2696801	biolink:SequenceVariant	NM_001754.5(RUNX1):c.524T>A (p.Leu175Gln)	CA410208126	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2826469	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1382A>C (p.Asn461Thr)	CA410146980	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2839110	biolink:SequenceVariant	NM_001754.5(RUNX1):c.25T>A (p.Ser9Thr)	CA410208258	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2791325	biolink:SequenceVariant	NM_001754.5(RUNX1):c.352G>A (p.Val118Met)	CA410202792	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3017323	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1349G>A (p.Ser450Asn)	CA10014183	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2814028	biolink:SequenceVariant	NM_001754.5(RUNX1):c.145C>G (p.Pro49Ala)	CA10014584	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2852638	biolink:SequenceVariant	NM_001754.5(RUNX1):c.131C>G (p.Ser44Cys)	CA410204213	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2699552	biolink:SequenceVariant	NM_001754.5(RUNX1):c.3G>C (p.Met1Ile)	CA410208309	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2662455	biolink:SequenceVariant	NM_001754.5(RUNX1):c.769A>G (p.Thr257Ala)	CA410206729	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1362194	biolink:SequenceVariant	NM_001754.5(RUNX1):c.829C>T (p.Pro277Ser)	CA410150264	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2021813	biolink:SequenceVariant	NM_001754.5(RUNX1):c.59-48942A>G	CA2387321999	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1388634	biolink:SequenceVariant	NM_001754.5(RUNX1):c.217A>G (p.Ser73Gly)	CA410203877	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA2830665545	biolink:SequenceVariant	NM_001754.5:c.442_444dup	CA2830665545	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2146436	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805+18C>T	CA2580098627	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3241647	biolink:SequenceVariant	NM_000152.5(GAA):c.1437G>C (p.Lys479Asn)	CA401366671	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:180142	biolink:SequenceVariant	NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)	CA273683	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA409104130	biolink:SequenceVariant	NM_175914.5:c.240C>G	CA409104130	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:586023	biolink:SequenceVariant	NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	CA409108268	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:660789	biolink:SequenceVariant	NM_001754.5(RUNX1):c.287A>G (p.Asn96Ser)	CA10014555	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA1139655402	biolink:SequenceVariant	NM_175914.5:c.152dup	CA1139655402	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:950322	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1324C>T (p.Leu442Phe)	CA410147365	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:639328	biolink:SequenceVariant	NM_001754.5(RUNX1):c.264G>T (p.Glu88Asp)	CA410203759	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1315930	biolink:SequenceVariant	NM_001754.5(RUNX1):c.337C>A (p.Pro113Thr)	CA410203396	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1973721	biolink:SequenceVariant	NM_001754.5(RUNX1):c.806-8C>A	CA2580098849	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684386	biolink:SequenceVariant	NM_001754.5(RUNX1):c.512A>T (p.Lys171Ile)	CA410208153	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1064169	biolink:SequenceVariant	NM_001754.5(RUNX1):c.355G>A (p.Val119Met)	CA410202786	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:854013	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1034C>A (p.Pro345His)	CA410148474	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:859484	biolink:SequenceVariant	NM_001754.5(RUNX1):c.233T>C (p.Met78Thr)	CA410203840	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2718511	biolink:SequenceVariant	NM_001754.5(RUNX1):c.189C>T (p.Ala63=)	CA512318935	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2865768	biolink:SequenceVariant	NM_001754.5(RUNX1):c.180C>A (p.Ala60=)	CA512318940	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1506422	biolink:SequenceVariant	NM_001754.5(RUNX1):c.946G>A (p.Glu316Lys)	CA410149605	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:643883	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)	CA10014217	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1485668	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1298C>G (p.Thr433Ser)	CA410147459	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2831823	biolink:SequenceVariant	NM_001754.5(RUNX1):c.126G>A (p.Pro42=)	CA512318982	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:949250	biolink:SequenceVariant	NM_001754.5(RUNX1):c.436A>T (p.Asn146Tyr)	CA410202614	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1065582	biolink:SequenceVariant	NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro)	CA410203416	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2435494	biolink:SequenceVariant	NM_001754.5(RUNX1):c.351+1_351+2dup	CA891842376	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339800	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3944G>A	CA10644612	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:576865	biolink:SequenceVariant	NM_001754.5(RUNX1):c.718C>G (p.Pro240Ala)	CA410206833	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:971769	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1092CGGCAT[1] (p.364IG[1])	CA10014202	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:840423	biolink:SequenceVariant	NM_001754.5(RUNX1):c.559G>T (p.Ala187Ser)	CA410208050	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1009408	biolink:SequenceVariant	NM_001754.5(RUNX1):c.521C>T (p.Thr174Ile)	CA410208129	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:995686	biolink:SequenceVariant	NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	CA374974153	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:213212	biolink:SequenceVariant	NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	CA321073	HGNC:3349	NCBITaxon:9606	Homo sapiens
CLINVAR:425876	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)	CA350341605	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425702	biolink:SequenceVariant	NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg)	CA350399040	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425864	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro)	CA350341382	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:389672	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	CA16607872	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1940407	biolink:SequenceVariant	NM_000545.8(HNF1A):c.416T>C (p.Leu139Pro)	CA386959782	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386959765	biolink:SequenceVariant	NM_001306179.2:c.415C>G	CA386959765	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338462	biolink:SequenceVariant	NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe)	CA386959775	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:252096	biolink:SequenceVariant	NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)	CA037254	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161284	biolink:SequenceVariant	NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	CA023502	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251845	biolink:SequenceVariant	NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr)	CA10585455	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251844	biolink:SequenceVariant	NM_000527.5(LDLR):c.1444G>C (p.Asp482His)	CA10585454	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251846	biolink:SequenceVariant	NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly)	CA10585456	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:189297	biolink:SequenceVariant	NM_000527.5(LDLR):c.811G>A (p.Val271Ile)	CA023769	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:438325	biolink:SequenceVariant	NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)	CA305301758	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:375822	biolink:SequenceVariant	NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro)	CA16602336	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:921461	biolink:SequenceVariant	NM_000527.5(LDLR):c.1739C>G (p.Ser580Cys)	CA404089700	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251881	biolink:SequenceVariant	NM_000527.5(LDLR):c.1516G>A (p.Val506Met)	CA034649	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:926176	biolink:SequenceVariant	NM_000527.5(LDLR):c.1516G>C (p.Val506Leu)	CA404086496	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251249	biolink:SequenceVariant	NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)	CA10584941	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251252	biolink:SequenceVariant	NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)	CA10584944	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183089	biolink:SequenceVariant	NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)	CA023717	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:209088	biolink:SequenceVariant	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	CA358852	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:289969	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	CA10118715	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:373089	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)	CA501019	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:9447	biolink:SequenceVariant	NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	CA120437	HGNC:17271	NCBITaxon:9606	Homo sapiens
CLINVAR:626912	biolink:SequenceVariant	NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	CA5894328	HGNC:17271	NCBITaxon:9606	Homo sapiens
CLINVAR:222971	biolink:SequenceVariant	NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	CA356968	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:13902	biolink:SequenceVariant	NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	CA257019	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:1319383	biolink:SequenceVariant	NM_001754.5(RUNX1):c.761A>G (p.Asn254Ser)	CA410206747	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2021682	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1095C>A (p.Gly365=)	CA512341309	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1556993	biolink:SequenceVariant	NM_001754.5(RUNX1):c.213G>A (p.Leu71=)	CA512318914	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2121544	biolink:SequenceVariant	NM_001754.5(RUNX1):c.135C>T (p.Thr45=)	CA512318973	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:864271	biolink:SequenceVariant	NM_001754.5(RUNX1):c.414A>C (p.Glu138Asp)	CA10014520	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1435320	biolink:SequenceVariant	NM_001754.5(RUNX1):c.181C>T (p.Pro61Ser)	CA10014574	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:582967	biolink:SequenceVariant	NM_001754.5(RUNX1):c.733C>T (p.Pro245Ser)	CA410206799	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2038636	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)	CA410147897	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2115774	biolink:SequenceVariant	NM_001754.5(RUNX1):c.133A>G (p.Thr45Ala)	CA410204209	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:846424	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1391C>T (p.Thr464Ile)	CA410146905	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1365004	biolink:SequenceVariant	NM_001754.5(RUNX1):c.71G>C (p.Gly24Ala)	CA410205747	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:937279	biolink:SequenceVariant	NM_001754.5(RUNX1):c.223G>T (p.Asp75Tyr)	CA410203862	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1485224	biolink:SequenceVariant	NM_001754.5(RUNX1):c.101C>T (p.Ala34Val)	CA410204318	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1552198	biolink:SequenceVariant	NM_001754.5(RUNX1):c.777T>C (p.Phe259=)	CA512318567	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1018068	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1154A>G (p.Tyr385Cys)	CA410147938	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1368262	biolink:SequenceVariant	NM_001754.5(RUNX1):c.968-3C>T	CA2573157365	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409811	biolink:SequenceVariant	NM_001754.5(RUNX1):c.97G>A (p.Asp33Asn)	CA10014629	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1483319	biolink:SequenceVariant	NM_001754.5(RUNX1):c.40C>A (p.Pro14Thr)	CA410208229	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1457387	biolink:SequenceVariant	NM_001754.5(RUNX1):c.46_47del (p.Cys16fs)	CA2573157358	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409812	biolink:SequenceVariant	NM_001754.5(RUNX1):c.530_532dup (p.Ile177dup)	CA16616526	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1509019	biolink:SequenceVariant	NM_001754.5(RUNX1):c.428_439dup (p.Glu143_Asn146dup)	CA2573157359	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2041194	biolink:SequenceVariant	NM_001754.5(RUNX1):c.673C>T (p.Leu225Phe)	CA320603699	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:858173	biolink:SequenceVariant	NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn)	CA10014282	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1949129	biolink:SequenceVariant	NM_001754.5(RUNX1):c.716G>A (p.Ser239Asn)	CA410206839	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1003366	biolink:SequenceVariant	NM_001754.5(RUNX1):c.12C>G (p.Asp4Glu)	CA410208290	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1514219	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1250C>G (p.Ser417Cys)	CA410147652	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1512969	biolink:SequenceVariant	NM_001754.5(RUNX1):c.527C>A (p.Thr176Asn)	CA410208119	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2003504	biolink:SequenceVariant	NM_001754.5(RUNX1):c.97+6T>G	CA2580098655	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1001532	biolink:SequenceVariant	NM_001754.5(RUNX1):c.535G>A (p.Val179Ile)	CA410208104	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1507291	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1181G>A (p.Gly394Asp)	CA410147847	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1058050	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1310C>T (p.Thr437Ile)	CA410147414	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2465691	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1162T>A (p.Ser388Thr)	CA410147913	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:967043	biolink:SequenceVariant	NM_001754.5(RUNX1):c.368A>G (p.Asp123Gly)	CA410202761	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1018620	biolink:SequenceVariant	NM_001754.5(RUNX1):c.941C>G (p.Ser314Cys)	CA410149614	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464012	biolink:SequenceVariant	NM_001754.5(RUNX1):c.883_885del (p.Ser295del)	CA10014274	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1392067	biolink:SequenceVariant	NM_001754.5(RUNX1):c.380G>T (p.Gly127Val)	CA410202733	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:966213	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1368G>C (p.Glu456Asp)	CA410147103	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1351602	biolink:SequenceVariant	NM_001754.5(RUNX1):c.500G>C (p.Ser167Thr)	CA410202484	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:851830	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1000C>T (p.Arg334Cys)	CA410148684	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1042743	biolink:SequenceVariant	NM_001754.5(RUNX1):c.373C>T (p.Pro125Ser)	CA410202750	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1354221	biolink:SequenceVariant	NM_001754.5(RUNX1):c.440C>G (p.Ala147Gly)	CA410202604	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:839054	biolink:SequenceVariant	NM_001754.5(RUNX1):c.283C>T (p.Pro95Ser)	CA410203686	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532654	biolink:SequenceVariant	NM_001754.5(RUNX1):c.980T>G (p.Leu327Arg)	CA320251669	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532655	biolink:SequenceVariant	NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu)	CA10014573	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1350529	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1377C>G (p.His459Gln)	CA410147027	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1642471	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1209C>T (p.Tyr403=)	CA512341222	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1592483	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1308C>T (p.Ser436=)	CA512341074	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:581279	biolink:SequenceVariant	NM_001754.5(RUNX1):c.408T>A (p.Asn136Lys)	CA410202677	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1546102	biolink:SequenceVariant	NM_001754.5(RUNX1):c.996C>T (p.Asp332=)	CA512341386	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1421576	biolink:SequenceVariant	NM_001754.5(RUNX1):c.227G>A (p.Arg76His)	CA10014566	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2090169	biolink:SequenceVariant	NM_001754.5(RUNX1):c.765C>T (p.His255=)	CA512318576	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1415388	biolink:SequenceVariant	NM_001754.5(RUNX1):c.440C>T (p.Ala147Val)	CA410202603	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1010346	biolink:SequenceVariant	NM_001754.5(RUNX1):c.910C>T (p.Pro304Ser)	CA410149674	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1000965	biolink:SequenceVariant	NM_001754.5(RUNX1):c.178G>C (p.Ala60Pro)	CA410204003	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1404038	biolink:SequenceVariant	NM_001754.5(RUNX1):c.523C>G (p.Leu175Val)	CA410208127	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1436178	biolink:SequenceVariant	NM_001754.5(RUNX1):c.149G>A (p.Gly50Asp)	CA410204124	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1701951	biolink:SequenceVariant	NM_001754.5(RUNX1):c.267G>A (p.Leu89=)	CA512318871	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1587386	biolink:SequenceVariant	NM_001754.5(RUNX1):c.990C>T (p.Phe330=)	CA512341388	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA383506026	biolink:SequenceVariant	NM_000552.5:c.3961T>A	CA383506026	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:586022	biolink:SequenceVariant	NM_175914.5(HNF4A):c.925C>A (p.Arg309Ser)	CA409108243	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:560681	biolink:SequenceVariant	NM_001085049.3(MRAS):c.67G>C (p.Gly23Arg)	CA354671566	HGNC:7227	NCBITaxon:9606	Homo sapiens
CLINVAR:635781	biolink:SequenceVariant	NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)	CA354671596	HGNC:7227	NCBITaxon:9606	Homo sapiens
CLINVAR:635782	biolink:SequenceVariant	NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)	CA354672403	HGNC:7227	NCBITaxon:9606	Homo sapiens
CLINVAR:254648	biolink:SequenceVariant	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	CA10586682	HGNC:9282	NCBITaxon:9606	Homo sapiens
CLINVAR:427633	biolink:SequenceVariant	NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)	CA346581171	HGNC:9282	NCBITaxon:9606	Homo sapiens
CLINVAR:393444	biolink:SequenceVariant	NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)	CA9870393	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:549555	biolink:SequenceVariant	NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr)	CA409107542	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:36360	biolink:SequenceVariant	NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)	CA213981	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2497028946	biolink:SequenceVariant	NM_003593.3:c.1579_1580del	CA2497028946	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:1966519	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu)	CA8459424	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:2780381	biolink:SequenceVariant	NM_003593.3:c.246C>A	CA398320910	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:2088121	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.340C>T (p.Arg114Ter)	CA398321249	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:3018366	biolink:SequenceVariant	NM_001754.5(RUNX1):c.997C>T (p.Pro333Ser)	CA410148699	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678493	biolink:SequenceVariant	NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)	CA410203376	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2856448	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1329C>A (p.Asn443Lys)	CA410147339	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678496	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)	CA410147531	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2713530	biolink:SequenceVariant	NM_001754.5(RUNX1):c.125C>T (p.Pro42Leu)	CA410204236	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2697441	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1283T>G (p.Ile428Ser)	CA410147512	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1361711	biolink:SequenceVariant	NM_001754.5(RUNX1):c.58+5G>A	CA2573157357	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1610586	biolink:SequenceVariant	NM_001754.5:c.614-17_614-16insCCCATCCCCTCCCCTCCT	-	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:569757	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1093G>C (p.Gly365Arg)	CA320251523	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1428742	biolink:SequenceVariant	NM_001754.5(RUNX1):c.209A>C (p.Lys70Thr)	CA410203897	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:864259	biolink:SequenceVariant	NM_001754.5(RUNX1):c.968C>A (p.Thr323Lys)	CA410148832	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1488888	biolink:SequenceVariant	NM_001754.5(RUNX1):c.629T>C (p.Leu210Pro)	CA410207157	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1364020	biolink:SequenceVariant	NM_001754.5(RUNX1):c.442A>G (p.Thr148Ala)	CA410202602	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409815	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser)	CA10014221	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:627343	biolink:SequenceVariant	NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg)	CA410207969	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2893433	biolink:SequenceVariant	NM_001754.5(RUNX1):c.716G>T (p.Ser239Ile)	CA410206837	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2694690	biolink:SequenceVariant	NM_001754.5(RUNX1):c.709A>G (p.Arg237Gly)	CA410206852	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2815871	biolink:SequenceVariant	NM_001754.5(RUNX1):c.54dup (p.Arg19fs)	CA2739267620	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1356920	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-3T>A	CA1022028185	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2752186	biolink:SequenceVariant	NM_001754.5(RUNX1):c.407A>T (p.Asn136Ile)	CA410202678	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1057196	biolink:SequenceVariant	NM_001754.5(RUNX1):c.818T>C (p.Ile273Thr)	CA410150334	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1522045	biolink:SequenceVariant	NM_001754.5(RUNX1):c.186C>A (p.Asp62Glu)	CA320642855	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:848735	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1340C>T (p.Pro447Leu)	CA410147256	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2739759	biolink:SequenceVariant	NM_001754.5(RUNX1):c.520A>G (p.Thr174Ala)	CA410208132	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339803	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3588G>C	CA10650411	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3023071	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1222G>C (p.Gly408Arg)	CA410147744	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2995353	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1183C>T (p.Pro395Ser)	CA410147839	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1718293	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1026C>G (p.Ile342Met)	CA410148524	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:860793	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1256T>C (p.Val419Ala)	CA410147622	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1420902	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1113G>A (p.Met371Ile)	CA410148080	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1046278	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg)	CA410147373	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:860545	biolink:SequenceVariant	NM_001754.5(RUNX1):c.236T>A (p.Val79Glu)	CA410203832	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:963047	biolink:SequenceVariant	NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro)	CA410206881	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2879675	biolink:SequenceVariant	NM_001754.5(RUNX1):c.284C>T (p.Pro95Leu)	CA410203676	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2741843	biolink:SequenceVariant	NM_001754.5(RUNX1):c.683T>C (p.Leu228Pro)	CA10014379	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2749609	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1405T>C (p.Ser469Pro)	CA410146757	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2864169	biolink:SequenceVariant	NM_001754.5(RUNX1):c.301G>C (p.Val101Leu)	CA410203589	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:10199	biolink:SequenceVariant	NM_000132.3(F8):c.980T>C (p.Leu327Pro)	CA255086	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414892027	biolink:SequenceVariant	NM_000132.4:c.4148C>G	CA414892027	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:209092	biolink:SequenceVariant	NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	CA204984	HGNC:11188	NCBITaxon:9606	Homo sapiens
CLINVAR:373121	biolink:SequenceVariant	NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)	CA7177479	HGNC:11188	NCBITaxon:9606	Homo sapiens
CLINVAR:7280	biolink:SequenceVariant	NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	CA118658	HGNC:2974	NCBITaxon:9606	Homo sapiens
CLINVAR:449326	biolink:SequenceVariant	NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)	CA404041079	HGNC:2974	NCBITaxon:9606	Homo sapiens
CLINVAR:931135	biolink:SequenceVariant	NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)	CA404041406	HGNC:2974	NCBITaxon:9606	Homo sapiens
CLINVAR:7281	biolink:SequenceVariant	NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	CA172098	HGNC:2974	NCBITaxon:9606	Homo sapiens
CLINVAR:7285	biolink:SequenceVariant	NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	CA172110	HGNC:2974	NCBITaxon:9606	Homo sapiens
CLINVAR:7279	biolink:SequenceVariant	NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	CA118655	HGNC:2974	NCBITaxon:9606	Homo sapiens
CLINVAR:158984	biolink:SequenceVariant	NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	CA271902	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:158987	biolink:SequenceVariant	NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	CA271909	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:11055	biolink:SequenceVariant	NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	CA255665	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:11060	biolink:SequenceVariant	NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	CA255672	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:11057	biolink:SequenceVariant	NM_000252.3(MTM1):c.141_144del	CA255668	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:158926	biolink:SequenceVariant	NM_000252.3(MTM1):c.137-7T>G	CA271794	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:167307	biolink:SequenceVariant	NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)	CA234282		NCBITaxon:9606	Homo sapiens
CLINVAR:930768	biolink:SequenceVariant	NM_000252.3(MTM1):c.1644+1G>A	CA415260520	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:158953	biolink:SequenceVariant	NM_000252.3(MTM1):c.1792del (p.His598fs)	CA271849	HGNC:7448	NCBITaxon:9606	Homo sapiens
CLINVAR:552042	biolink:SequenceVariant	NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)	CA1909950	HGNC:7720	NCBITaxon:9606	Homo sapiens
CLINVAR:553493	biolink:SequenceVariant	NM_001164508.2(NEB):c.6076-1G>T	CA348802582	HGNC:7720	NCBITaxon:9606	Homo sapiens
CLINVAR:496132	biolink:SequenceVariant	NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)	CA1907773	HGNC:7720	NCBITaxon:9606	Homo sapiens
CLINVAR:506284	biolink:SequenceVariant	NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)	CA1906766	HGNC:7720	NCBITaxon:9606	Homo sapiens
CLINVAR:552018	biolink:SequenceVariant	NM_001164508.2(NEB):c.78+1G>A	CA1912012	HGNC:7720	NCBITaxon:9606	Homo sapiens
CLINVAR:4027	biolink:SequenceVariant	NM_000152.5(GAA):c.-32-13T>G	CA116606	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:2710027	biolink:SequenceVariant	NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)	CA405696104	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1253809	biolink:SequenceVariant	NM_000540.3(RYR1):c.8310+1G>T	CA405677313	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:642707	biolink:SequenceVariant	NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	CA072871	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:12996	biolink:SequenceVariant	NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	CA024029	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:438314	biolink:SequenceVariant	NM_000527.4(LDLR):c.-187_-185del	CA645509248		NCBITaxon:9606	Homo sapiens
CLINVAR:203590	biolink:SequenceVariant	NM_000018.4(ACADVL):c.889_891del (p.Glu297del)	CA312285	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:657040	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)	CA397724272	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:440637	biolink:SequenceVariant	NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)	CA305300092	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:926526	biolink:SequenceVariant	NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)	CA034017	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251817	biolink:SequenceVariant	NM_000527.5(LDLR):c.1367T>A (p.Leu456His)	CA10585429	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251766	biolink:SequenceVariant	NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)	CA10585385	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251765	biolink:SequenceVariant	NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser)	CA10585384	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:936786	biolink:SequenceVariant	NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)	CA342802293	HGNC:10023	NCBITaxon:9606	Homo sapiens
CLINVAR:561681	biolink:SequenceVariant	NM_006912.6(RIT1):c.268A>G (p.Met90Val)	CA342802812	HGNC:10023	NCBITaxon:9606	Homo sapiens
CLINVAR:560679	biolink:SequenceVariant	NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)	CA342803099	HGNC:10023	NCBITaxon:9606	Homo sapiens
CLINVAR:451330	biolink:SequenceVariant	NM_000540.3(RYR1):c.9472+1G>A	CA073621	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:582126	biolink:SequenceVariant	NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp)	CA405690291	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:201153	biolink:SequenceVariant	NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)	CA024262	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:1610571	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=)	CA421821556	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:1576061	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=)	CA1251221	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:2295171	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.17T>C (p.Ile6Thr)	CA1251495	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18012	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	CA325653	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:226353	biolink:SequenceVariant	NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)	CA10576303	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:328053	biolink:SequenceVariant	NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)	CA038604	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:2057364	biolink:SequenceVariant	NM_000527.5(LDLR):c.2106G>C (p.Met702Ile)	CA038621	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251886	biolink:SequenceVariant	NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)	CA034662	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161285	biolink:SequenceVariant	NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	CA023512	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251864	biolink:SequenceVariant	NM_000527.5(LDLR):c.1474G>C (p.Asp492His)	CA10585474	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251865	biolink:SequenceVariant	NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)	CA10585475	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251767	biolink:SequenceVariant	NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)	CA10585386	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3694	biolink:SequenceVariant	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	CA023443	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440548	biolink:SequenceVariant	NM_000527.5(LDLR):c.188G>T (p.Cys63Phe)	CA404075130	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252308	biolink:SequenceVariant	NM_000527.5(LDLR):c.2389+14G>A	CA9204959	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:993226	biolink:SequenceVariant	NM_000527.5(LDLR):c.1567G>C (p.Val523Leu)	CA034835	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251900	biolink:SequenceVariant	NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)	CA10585504	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:3696	biolink:SequenceVariant	NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	CA023525	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251731	biolink:SequenceVariant	NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)	CA10585356	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251870	biolink:SequenceVariant	NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro)	CA10585480	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:919898	biolink:SequenceVariant	NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys)	CA034538	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251130	biolink:SequenceVariant	NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)	CA10584839	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:161278	biolink:SequenceVariant	NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)	CA023671	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:1509293	biolink:SequenceVariant	NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp)	CA040769	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251949	biolink:SequenceVariant	NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)	CA10585539	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251147	biolink:SequenceVariant	c.(313+1_314-1)_(1186+1_1187-1)dup	-		NCBITaxon:9606	Homo sapiens
CLINVAR:1000222	biolink:SequenceVariant	NM_000249.4(MLH1):c.1963A>T (p.Ile655Phe)	CA031690	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:220185	biolink:SequenceVariant	NM_000249.4(MLH1):c.1558+1G>A	CA348840	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:233523	biolink:SequenceVariant	NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro)	CA10578272	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:220203	biolink:SequenceVariant	NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)	CA028060	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:449776	biolink:SequenceVariant	NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)	CA352060789	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:619511	biolink:SequenceVariant	NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn)	CA352065368	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:90178	biolink:SequenceVariant	NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	CA009864	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:90011	biolink:SequenceVariant	NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)	CA008313	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:561172	biolink:SequenceVariant	NM_000249.4(MLH1):c.923A>C (p.His308Pro)	CA352048631	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:89816	biolink:SequenceVariant	NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro)	CA006221	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:619558	biolink:SequenceVariant	NM_000249.4(MLH1):c.589-2A>C	CA352042278	HGNC:7127	NCBITaxon:9606	Homo sapiens
CLINVAR:1067956	biolink:SequenceVariant	NM_000251.3(MSH2):c.2210+2T>C	CA346729443	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:90503	biolink:SequenceVariant	NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)	CA016843	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:142708	biolink:SequenceVariant	NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	CA020066	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:90880	biolink:SequenceVariant	NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)	CA019969	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:91246	biolink:SequenceVariant	NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)	CA022554	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:246389	biolink:SequenceVariant	NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)	CA10584213	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:89573	biolink:SequenceVariant	NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)	CA016588	HGNC:7329	NCBITaxon:9606	Homo sapiens
CLINVAR:455128	biolink:SequenceVariant	NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu)	CA067440	HGNC:7329	NCBITaxon:9606	Homo sapiens
CLINVAR:140774	biolink:SequenceVariant	NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)	CA013076	HGNC:7329	NCBITaxon:9606	Homo sapiens
CLINVAR:216294	biolink:SequenceVariant	NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)	CA337394	HGNC:7329	NCBITaxon:9606	Homo sapiens
CLINVAR:162508	biolink:SequenceVariant	NM_000535.7(PMS2):c.1144+1G>A	CA009232	HGNC:9122	NCBITaxon:9606	Homo sapiens
CLINVAR:91361	biolink:SequenceVariant	NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	CA012420	HGNC:9122	NCBITaxon:9606	Homo sapiens
CLINVAR:91313	biolink:SequenceVariant	NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)	CA010216	HGNC:9122	NCBITaxon:9606	Homo sapiens
CLINVAR:439243	biolink:SequenceVariant	NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	CA366744765	HGNC:9122	NCBITaxon:9606	Homo sapiens
CLINVAR:480313	biolink:SequenceVariant	NM_000535.7(PMS2):c.1571dup (p.Gly525fs)	CA658655976	HGNC:9122	NCBITaxon:9606	Homo sapiens
CLINVAR:2673296	biolink:SequenceVariant	NM_000251.3:c.366+1G>C	CA346730170	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:2673426	biolink:SequenceVariant	NM_000251.3:c.792+1G>T	CA346732539	HGNC:7325	NCBITaxon:9606	Homo sapiens
CLINVAR:811810	biolink:SequenceVariant	NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)	CA414906836	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:627180	biolink:SequenceVariant	NM_000133.4(F9):c.520+13A>G	CA915952347	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA2580612120	biolink:SequenceVariant	NM_022895.3:c.*3089_*3099del	CA2580612120	HGNC:25719	NCBITaxon:9606	Homo sapiens
CLINVAR:2084589	biolink:SequenceVariant	NM_000545.8(HNF1A):c.353T>C (p.Met118Thr)	CA386958995	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:972755	biolink:SequenceVariant	NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)	CA386965365	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965420	biolink:SequenceVariant	NM_001306179.2:c.707G>A	CA386965420	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965487	biolink:SequenceVariant	NM_001306179.2:c.712A>G	CA386965487	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386965729	biolink:SequenceVariant	NM_001306179.2:c.715G>A	CA386965729	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966305	biolink:SequenceVariant	NM_001306179.2:c.806C>A	CA386966305	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966297	biolink:SequenceVariant	NM_001306179.2:c.805G>C	CA386966297	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1304284	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.118A>G (p.Thr40Ala)	CA8603540	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399806749	biolink:SequenceVariant	NM_000419.5:c.188+1G>A	CA399806749	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA2261365225	biolink:SequenceVariant	NM_000419.5:c.3001_3010dup	CA2261365225	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399805683	biolink:SequenceVariant	NM_000419.5:c.575-2A>T	CA399805683	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:91386	biolink:SequenceVariant	NM_000535.7(PMS2):c.989-2A>G	CA013438	HGNC:9122	NCBITaxon:9606	Homo sapiens
CLINVAR:872112	biolink:SequenceVariant	NM_130839.5(UBE3A):c.1609-8A>G	CA658760344	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:156623	biolink:SequenceVariant	NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly)	CA294642	HGNC:12496	NCBITaxon:9606	Homo sapiens
CA2849481719	biolink:SequenceVariant	NM_001306179.2:c.326+4A>C	CA2849481719	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966185	biolink:SequenceVariant	NM_001306179.2:c.793T>C	CA386966185	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960147	biolink:SequenceVariant	NM_001306179.2:c.450G>C	CA386960147	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA409105364	biolink:SequenceVariant	NM_175914.5:c.322G>T	CA409105364	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108770	biolink:SequenceVariant	NM_175914.5:c.1045C>T	CA409108770	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108445	biolink:SequenceVariant	NM_175914.5:c.977C>T	CA409108445	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA386960129	biolink:SequenceVariant	NM_001306179.2:c.448A>G	CA386960129	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960156	biolink:SequenceVariant	NM_001306179.2:c.450G>T	CA386960156	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:387822	biolink:SequenceVariant	NM_001482.3(GATM):c.675+3G>C	CA16607078	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:853965	biolink:SequenceVariant	NM_001482.3(GATM):c.297A>G (p.Thr99=)	CA490236561	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:891607	biolink:SequenceVariant	NM_000156.6(GAMT):c.372G>A (p.Leu124=)	CA9043705	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:205566	biolink:SequenceVariant	NM_000156.6(GAMT):c.331A>C (p.Ile111Leu)	CA314780	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:328349	biolink:SequenceVariant	NM_000156.6(GAMT):c.328-10C>T	CA9043721	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:2145645	biolink:SequenceVariant	NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)	CA9043745	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:1552732	biolink:SequenceVariant	NM_000156.6(GAMT):c.228A>T (p.Ser76=)	CA9043761	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:288963	biolink:SequenceVariant	NM_000156.6(GAMT):c.189G>C (p.Arg63=)	CA9043767	HGNC:4136	NCBITaxon:9606	Homo sapiens
CLINVAR:439742	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys)	CA8459420	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:946936	biolink:SequenceVariant	NM_001369369.1(FOXN1):c.1036T>C (p.Trp346Arg)	CA398324705	HGNC:12765	NCBITaxon:9606	Homo sapiens
CLINVAR:143556	biolink:SequenceVariant	NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)	CA270384	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:1684314	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro)	CA343776693	HGNC:775	NCBITaxon:9606	Homo sapiens
CA913184734	biolink:SequenceVariant	NM_001079804.3:c.2585del	CA913184734	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658795239	biolink:SequenceVariant	NM_000152.5:c.829_851del	CA658795239	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:554983	biolink:SequenceVariant	NM_000152.5(GAA):c.1551+1G>C	CA401367167	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:849313	biolink:SequenceVariant	NM_000152.5(GAA):c.1437+2T>C	CA401366685	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:3020821	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1426G>T (p.Val476Leu)	CA410146612	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1401156	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val)	CA410146724	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2753273	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1409C>G (p.Ala470Gly)	CA410146727	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2905469	biolink:SequenceVariant	NM_001754.5(RUNX1):c.677G>C (p.Ser226Thr)	CA410206919	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202475	biolink:SequenceVariant	NM_001754.5:c.503G>A	CA410202475	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:944219	biolink:SequenceVariant	NM_001754.5(RUNX1):c.662T>G (p.Phe221Cys)	CA410206983	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2732592	biolink:SequenceVariant	NM_001754.5(RUNX1):c.658T>G (p.Ser220Ala)	CA410207000	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1945937	biolink:SequenceVariant	NM_001754.5(RUNX1):c.631G>C (p.Asp211His)	CA410207146	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2757681	biolink:SequenceVariant	NM_001754.5(RUNX1):c.346T>A (p.Phe116Ile)	CA410203366	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2883235	biolink:SequenceVariant	NM_001754.5(RUNX1):c.341T>C (p.Ile114Thr)	CA410203381	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2692676	biolink:SequenceVariant	NM_001754.5(RUNX1):c.341T>A (p.Ile114Asn)	CA410203383	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2834717	biolink:SequenceVariant	NM_001754.5(RUNX1):c.332C>G (p.Thr111Ser)	CA410203410	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2730661	biolink:SequenceVariant	NM_001754.5(RUNX1):c.275C>T (p.Thr92Ile)	CA410203718	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2859737	biolink:SequenceVariant	NM_001754.5(RUNX1):c.250G>A (p.Asp84Asn)	CA10014562	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1898434	biolink:SequenceVariant	NM_001754.5(RUNX1):c.248C>T (p.Ala83Val)	CA410203806	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1482816	biolink:SequenceVariant	NM_001754.5(RUNX1):c.245T>A (p.Leu82Gln)	CA410203814	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1022622	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1230_1235dup (p.Ala411_Gly412dup)	CA2387254395	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678498	biolink:SequenceVariant	NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)	CA410203843	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:836080	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup)	CA916081957	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2663436	biolink:SequenceVariant	NM_001754.5(RUNX1):c.101C>G (p.Ala34Gly)	CA410204316	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2990567	biolink:SequenceVariant	NM_001754.5(RUNX1):c.74T>C (p.Met25Thr)	CA410205737	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2959673	biolink:SequenceVariant	NM_001754.5(RUNX1):c.121A>G (p.Thr41Ala)	CA410204256	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2754122	biolink:SequenceVariant	NM_001754.5(RUNX1):c.35C>G (p.Ser12Trp)	CA410208239	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1602756	biolink:SequenceVariant	NM_001754.5(RUNX1):c.58+12C>T	CA637749749	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339846	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1430C>A	CA10644629	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2803152	biolink:SequenceVariant	NM_001754.5(RUNX1):c.193G>A (p.Ala65Thr)	CA410203952	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1989558	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1408G>A (p.Ala470Thr)	CA410146734	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2000813	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1318G>C (p.Ala440Pro)	CA410147387	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1978596	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1268G>A (p.Arg423His)	CA410147570	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:937462	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1261G>A (p.Gly421Ser)	CA410147609	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1523457	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1241A>G (p.Tyr414Cys)	CA410147701	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:942222	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1231G>A (p.Ala411Thr)	CA410147727	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1397177	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1145C>G (p.Pro382Arg)	CA410147964	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:863315	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1104G>A (p.Met368Ile)	CA410148112	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:845799	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1102A>C (p.Met368Leu)	CA410148125	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:960548	biolink:SequenceVariant	NM_001754.5(RUNX1):c.992G>C (p.Ser331Thr)	CA410148738	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339820	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2780A>G	CA10652912	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3061340	biolink:SequenceVariant	NM_001754.5(RUNX1):c.509-1G>A	CA410208164	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1438523	biolink:SequenceVariant	NM_001754.5(RUNX1):c.979C>G (p.Leu327Val)	CA410148810	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1507190	biolink:SequenceVariant	NM_001754.5(RUNX1):c.886G>A (p.Val296Met)	CA410149725	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:972242	biolink:SequenceVariant	NM_001754.5(RUNX1):c.730G>A (p.Ala244Thr)	CA410206807	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1509041	biolink:SequenceVariant	NM_001754.5(RUNX1):c.715A>T (p.Ser239Cys)	CA410206841	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1010723	biolink:SequenceVariant	NM_001754.5(RUNX1):c.656T>C (p.Leu219Ser)	CA410207013	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1479428	biolink:SequenceVariant	NM_001754.5(RUNX1):c.181C>A (p.Pro61Thr)	CA410203993	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2692670	biolink:SequenceVariant	NM_001754.5(RUNX1):c.116G>A (p.Arg39His)	CA410204278	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2695395	biolink:SequenceVariant	NM_001754.5(RUNX1):c.100G>A (p.Ala34Thr)	CA410204321	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202720	biolink:SequenceVariant	NM_001754.5:c.388G>C	CA410202720	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410203432	biolink:SequenceVariant	NM_001754.5:c.328A>C	CA410203432	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1422929	biolink:SequenceVariant	NM_001754.5(RUNX1):c.259_260delinsAA (p.Gly87Asn)	CA2573157361	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1432362	biolink:SequenceVariant	NM_001754.5(RUNX1):c.253C>T (p.His85Tyr)	CA410203798	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1481257	biolink:SequenceVariant	NM_001754.5(RUNX1):c.236T>C (p.Val79Ala)	CA410203831	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1061802	biolink:SequenceVariant	NM_001754.5(RUNX1):c.234G>A (p.Met78Ile)	CA410203838	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1474271	biolink:SequenceVariant	NM_001754.5(RUNX1):c.209A>G (p.Lys70Arg)	CA410203895	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1063502	biolink:SequenceVariant	NM_001754.5(RUNX1):c.206G>A (p.Gly69Asp)	CA410203907	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1371567	biolink:SequenceVariant	NM_001754.5(RUNX1):c.125C>A (p.Pro42Gln)	CA410204234	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1417387	biolink:SequenceVariant	NM_001754.5(RUNX1):c.194C>T (p.Ala65Val)	CA410203945	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:934627	biolink:SequenceVariant	NM_001754.5(RUNX1):c.97G>T (p.Asp33Tyr)	CA410205635	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1430436	biolink:SequenceVariant	NM_001754.5(RUNX1):c.29T>C (p.Phe10Ser)	CA410208250	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:934336	biolink:SequenceVariant	NM_001754.5(RUNX1):c.23A>G (p.Glu8Gly)	CA410208264	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:858272	biolink:SequenceVariant	NM_001754.5(RUNX1):c.4G>A (p.Ala2Thr)	CA10014735	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2814422	biolink:SequenceVariant	NM_001754.5(RUNX1):c.958C>A (p.Arg320=)	CA512232176	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2699087	biolink:SequenceVariant	NM_001754.5(RUNX1):c.862C>T (p.Leu288=)	CA512232260	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2808278	biolink:SequenceVariant	NM_001754.5(RUNX1):c.756C>T (p.Ser252=)	CA512318583	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2814451	biolink:SequenceVariant	NM_001754.5(RUNX1):c.480C>T (p.Asp160=)	CA512318677	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2879097	biolink:SequenceVariant	NM_001754.5(RUNX1):c.430C>T (p.Leu144=)	CA512318734	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2755227	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1131C>T (p.Tyr377=)	CA512341284	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2988050	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1122C>G (p.Ala374=)	CA512341293	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2900640	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1155C>T (p.Tyr385=)	CA512341265	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2755226	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1191A>G (p.Gln397=)	CA512341236	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2752334	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1389C>T (p.Pro463=)	CA512232133	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1394837	biolink:SequenceVariant	NM_001754.5(RUNX1):c.189C>A (p.Ala63=)	CA512318934	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2751155	biolink:SequenceVariant	NM_001754.5(RUNX1):c.612A>G (p.Arg204=)	CA512319058	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410203630	biolink:SequenceVariant	NM_001754.5:c.293T>C	CA410203630	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2834488	biolink:SequenceVariant	NM_001754.5(RUNX1):c.102C>A (p.Ala34=)	CA512319000	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339845	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1455A>G	CA10653564	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1471561	biolink:SequenceVariant	NM_001754.5(RUNX1):c.65T>C (p.Ile22Thr)	CA410205770	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1437603	biolink:SequenceVariant	NM_001754.5(RUNX1):c.490G>T (p.Val164Phe)	CA410202501	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1701950	biolink:SequenceVariant	NM_001754.5(RUNX1):c.161A>T (p.Glu54Val)	CA410204065	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1467839	biolink:SequenceVariant	NM_001754.5(RUNX1):c.101C>A (p.Ala34Asp)	CA410204317	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1346637	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1099G>T (p.Gly367Cys)	CA410148131	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1692647	biolink:SequenceVariant	NM_001754.5(RUNX1):c.660C>A (p.Ser220=)	CA512318673	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1369516	biolink:SequenceVariant	NM_001754.5(RUNX1):c.728C>T (p.Pro243Leu)	CA10014366	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1411636	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1286T>G (p.Leu429Arg)	CA410147502	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988848	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)	CA410147589	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:936839	biolink:SequenceVariant	NM_001754.5(RUNX1):c.645G>T (p.Lys215Asn)	CA410207064	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:967968	biolink:SequenceVariant	NM_001754.5(RUNX1):c.412G>A (p.Glu138Lys)	CA410202667	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1528554	biolink:SequenceVariant	NM_001754.5(RUNX1):c.519C>T (p.Phe173=)	CA512319131	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1459284	biolink:SequenceVariant	NM_001754.5(RUNX1):c.225C>T (p.Asp75=)	CA10014567	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:646645	biolink:SequenceVariant	NM_001754.5(RUNX1):c.969G>A (p.Thr323=)	CA512341405	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2013398	biolink:SequenceVariant	NM_001754.5(RUNX1):c.361C>T (p.Leu121=)	CA512318790	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1988566	biolink:SequenceVariant	NM_001754.5(RUNX1):c.474T>C (p.Phe158=)	CA512318682	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:973890	biolink:SequenceVariant	NM_001754.5(RUNX1):c.503G>T (p.Gly168Val)	CA410202476	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1718521	biolink:SequenceVariant	NM_001754.5(RUNX1):c.443C>G (p.Thr148Ser)	CA410202598	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684419	biolink:SequenceVariant	NM_001754.5(RUNX1):c.335T>A (p.Leu112Gln)	CA410203402	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684411	biolink:SequenceVariant	NM_001754.5(RUNX1):c.598C>T (p.Pro200Ser)	CA410207961	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1516563	biolink:SequenceVariant	NM_001754.5(RUNX1):c.278A>G (p.Asp93Gly)	CA410203707	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1493649	biolink:SequenceVariant	NM_001754.5(RUNX1):c.301G>A (p.Val101Met)	CA410203587	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1491218	biolink:SequenceVariant	NM_001754.5(RUNX1):c.464T>C (p.Val155Ala)	CA10014507	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1489490	biolink:SequenceVariant	NM_001754.5(RUNX1):c.461A>G (p.Gln154Arg)	CA10014510	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:845679	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1259G>A (p.Gly420Asp)	CA410147614	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:841418	biolink:SequenceVariant	NM_001754.5(RUNX1):c.780C>A (p.Asn260Lys)	CA410206704	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:840832	biolink:SequenceVariant	NM_001754.5(RUNX1):c.190G>A (p.Gly64Ser)	CA320642849	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:664394	biolink:SequenceVariant	NM_001754.5(RUNX1):c.657G>C (p.Leu219Phe)	CA410207009	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:648542	biolink:SequenceVariant	NM_001754.5(RUNX1):c.13A>G (p.Ser5Gly)	CA410208288	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1496920	biolink:SequenceVariant	NM_001754.5(RUNX1):c.623A>G (p.Gln208Arg)	CA410207187	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464011	biolink:SequenceVariant	NM_001754.5(RUNX1):c.849G>C (p.Gln283His)	CA320255629	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2001601	biolink:SequenceVariant	NM_001754.5(RUNX1):c.664T>C (p.Ser222Pro)	CA410206974	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532668	biolink:SequenceVariant	NM_001754.5(RUNX1):c.156G>A (p.Met52Ile)	CA410204095	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:836066	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1420G>A (p.Glu474Lys)	CA410146656	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:663181	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1232C>T (p.Ala411Val)	CA410147722	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:663009	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1234G>C (p.Gly412Arg)	CA410147720	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:658039	biolink:SequenceVariant	NM_001754.5(RUNX1):c.262G>C (p.Glu88Gln)	CA410203767	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:657868	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1039A>G (p.Met347Val)	CA410148443	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:656386	biolink:SequenceVariant	NM_001754.5(RUNX1):c.105C>A (p.Ser35Arg)	CA410204309	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:650331	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1004A>G (p.Gln335Arg)	CA320251627	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:650005	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1388C>T (p.Pro463Leu)	CA410146940	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:643861	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1381A>G (p.Asn461Asp)	CA410146990	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:641583	biolink:SequenceVariant	NM_001754.5(RUNX1):c.157A>G (p.Ser53Gly)	CA410204087	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:639088	biolink:SequenceVariant	NM_001754.5(RUNX1):c.170C>G (p.Pro57Arg)	CA410204028	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:576717	biolink:SequenceVariant	NM_001754.5(RUNX1):c.226C>T (p.Arg76Cys)	CA410203854	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:573788	biolink:SequenceVariant	NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser)	CA10014269	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:573555	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1225G>A (p.Ala409Thr)	CA410147739	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:572890	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1157C>G (p.Pro386Arg)	CA410147924	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:570149	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1418A>C (p.Glu473Ala)	CA410146659	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532660	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1301A>G (p.Asn434Ser)	CA10014187	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532657	biolink:SequenceVariant	NM_001754.5(RUNX1):c.865G>C (p.Gly289Arg)	CA410150105	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:532656	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1054G>A (p.Ala352Thr)	CA410148319	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1678200	biolink:SequenceVariant	NM_000022.4(ADA):c.984T>A (p.Asn328Lys)	CA9871435	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:626913	biolink:SequenceVariant	NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	CA912971829	HGNC:17271	NCBITaxon:9606	Homo sapiens
CLINVAR:626911	biolink:SequenceVariant	NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)	CA379862795	HGNC:17271	NCBITaxon:9606	Homo sapiens
CLINVAR:2146646	biolink:SequenceVariant	NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)	CA5416968	HGNC:17642	NCBITaxon:9606	Homo sapiens
CLINVAR:1959	biolink:SequenceVariant	NM_000022.2(ADA):c.986C>T	CA252004	HGNC:186	NCBITaxon:9606	Homo sapiens
CLINVAR:177778	biolink:SequenceVariant	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	CA180753	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:1003866	biolink:SequenceVariant	NM_002524.5(NRAS):c.272C>T (p.Ala91Val)	CA1020746	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:13903	biolink:SequenceVariant	NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	CA257021	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:1070042	biolink:SequenceVariant	NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)	CA341741642	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:424299	biolink:SequenceVariant	NM_002524.5(NRAS):c.250A>G (p.Ile84Val)	CA1020748	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:561350	biolink:SequenceVariant	NM_002524.5(NRAS):c.31G>A (p.Ala11Thr)	CA341742696	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:200177	biolink:SequenceVariant	NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)	CA011960	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:617874	biolink:SequenceVariant	NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	CA392326316	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549173	biolink:SequenceVariant	NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	CA392324992	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:42339	biolink:SequenceVariant	NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)	CA014319	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549019	biolink:SequenceVariant	NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)	CA392343534	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:549180	biolink:SequenceVariant	NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)	CA392324483	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495598	biolink:SequenceVariant	NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val)	CA392324369	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:200022	biolink:SequenceVariant	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	CA014476	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:495558	biolink:SequenceVariant	NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg)	CA392341228	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:36034	biolink:SequenceVariant	NM_000138.5(FBN1):c.1634G>A (p.Arg545His)	CA012355	HGNC:3603	NCBITaxon:9606	Homo sapiens
CLINVAR:164809	biolink:SequenceVariant	NM_002524.5(NRAS):c.368G>A (p.Arg123Lys)	CA177518	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:179025	biolink:SequenceVariant	NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)	CA183538	HGNC:7989	NCBITaxon:9606	Homo sapiens
CLINVAR:209089	biolink:SequenceVariant	NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	CA204980	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:2078744	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1149+1G>T	CA10118733	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:195024	biolink:SequenceVariant	NM_000162.5(GCK):c.118G>A (p.Glu40Lys)	CA201503	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA414444915	biolink:SequenceVariant	NM_001313913.2:c.838C>T	CA414444915	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA414444922	biolink:SequenceVariant	NM_001313913.2:c.839T>G	CA414444922	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:2138734	biolink:SequenceVariant	NM_001313913.2:c.86C>T	CA414434494	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:10602	biolink:SequenceVariant	NM_000133.3(F9):c.881G>A (p.Arg294Gln)	CA255368	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:627177	biolink:SequenceVariant	NM_000133.4(F9):c.407T>C (p.Ile136Thr)	CA414438824	HGNC:3551	NCBITaxon:9606	Homo sapiens
CA410780392	biolink:SequenceVariant	NM_006767.4:c.650A>C	CA410780392	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:705680	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)	CA10119038	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:973830	biolink:SequenceVariant	NM_006767.4(LZTR1):c.993+1G>A	CA410781684	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:898727	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3281G>T	CA1139666829	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:523986	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1030del (p.Ser344fs)	CA658799496	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:2634012	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1036del (p.Arg346fs)	CA2497030041	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2757091	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1271C>A (p.Ser424Ter)	CA410147557	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2839740	biolink:SequenceVariant	NM_001754.5(RUNX1):c.891_904del (p.Pro298fs)	CA2739267612	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2750881	biolink:SequenceVariant	NM_001754.5(RUNX1):c.292_334dup (p.Leu112fs)	CA2697547498	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2112037	biolink:SequenceVariant	NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)	CA410202643	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:522800	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1943-256C>T	CA10119150	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:522164	biolink:SequenceVariant	NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	CA10118269	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:561716	biolink:SequenceVariant	NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	CA410781238	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:1066305	biolink:SequenceVariant	NM_006767.4(LZTR1):c.263+1G>A	CA10118325	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:599033	biolink:SequenceVariant	NM_006767.4(LZTR1):c.361C>G (p.His121Asp)	CA410779341	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:561683	biolink:SequenceVariant	NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)	CA410781220	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:522799	biolink:SequenceVariant	NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)	CA410779953	HGNC:6742	NCBITaxon:9606	Homo sapiens
CLINVAR:451722	biolink:SequenceVariant	NM_006767.4(LZTR1):c.1149+1G>A	CA322328053	HGNC:6742	NCBITaxon:9606	Homo sapiens
CA367400488	biolink:SequenceVariant	NM_033508.3:c.817G>A	CA367400488	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400483	biolink:SequenceVariant	NM_033508.3:c.818A>C	CA367400483	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400486	biolink:SequenceVariant	NM_033508.3:c.817G>T	CA367400486	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:658067	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met)	CA1942910	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:374331	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)	CA16043652	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:372977	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile)	CA16042438	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:12893	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	CA256608	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:393000	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.1170+5G>C	CA16603947	HGNC:10585	NCBITaxon:9606	Homo sapiens
CLINVAR:130208	biolink:SequenceVariant	NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)	CA269784	HGNC:10585	NCBITaxon:9606	Homo sapiens
CA2695216038	biolink:SequenceVariant	NM_000552.5:c.4586_4591del	CA2695216038	HGNC:12726	NCBITaxon:9606	Homo sapiens
CA383520062	biolink:SequenceVariant	NM_000552.5:c.2637C>A	CA383520062	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:425863	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1016T>A (p.Val339Asp)	CA350341378	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425885	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1157A>C (p.Glu386Ala)	CA350341739	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425886	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1157A>G (p.Glu386Gly)	CA350341740	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425887	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1157A>T (p.Glu386Val)	CA350341741	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425884	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1156G>C (p.Glu386Gln)	CA350341737	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425883	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1156G>A (p.Glu386Lys)	CA350341736	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425888	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1171G>A (p.Ala391Thr)	CA350341771	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425889	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1175T>C (p.Val392Ala)	CA350341779	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:323556	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1439+8C>T	CA8603095	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:888902	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.1537G>A (p.Val513Met)	CA8603055	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:1698808	biolink:SequenceVariant	NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val)	CA8602782	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:477043	biolink:SequenceVariant	NM_177438.3(DICER1):c.1453G>A (p.Gly485Arg)	CA265917282	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:254293	biolink:SequenceVariant	NM_177438.3(DICER1):c.1745T>C (p.Ile582Thr)	CA7331435	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:664199	biolink:SequenceVariant	NM_177438.3(DICER1):c.1792G>A (p.Glu598Lys)	CA7331399	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:339882	biolink:SequenceVariant	NM_001754.5(RUNX1):c.-132G>C	CA10650447	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339813	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3229C>T	CA10653550	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:897695	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*467T>C	CA1139666833	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1040892	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1102A>T (p.Met368Leu)	CA410148122	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2728565	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1171G>A (p.Ala391Thr)	CA410147882	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:964321	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1016T>C (p.Leu339Pro)	CA410148586	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2419700	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1234G>A (p.Gly412Ser)	CA410147721	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:857804	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1245G>T (p.Gln415His)	CA410147676	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:970259	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)	CA410147564	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:988867	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)	CA410147560	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:840865	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu)	CA410147550	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409817	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1280G>T (p.Arg427Leu)	CA16616506	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2728942	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1284C>G (p.Ile428Met)	CA410147511	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678491	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)	CA410147172	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:856836	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1354G>C (p.Val452Leu)	CA410147171	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1037898	biolink:SequenceVariant	NM_001754.5(RUNX1):c.219C>G (p.Ser73Arg)	CA410203871	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1447557	biolink:SequenceVariant	NM_001754.5(RUNX1):c.30T>A (p.Phe10Leu)	CA410208248	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2154408	biolink:SequenceVariant	NM_001754.5(RUNX1):c.40C>T (p.Pro14Ser)	CA410208227	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463998	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-3T>C	CA10014391	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409821	biolink:SequenceVariant	NM_001754.5(RUNX1):c.708G>C (p.Met236Ile)	CA16616264	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2045031	biolink:SequenceVariant	NM_001754.5(RUNX1):c.766T>C (p.Ser256Pro)	CA410206735	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2035290	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805+8C>T	CA2580098630	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409807	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805G>C (p.Asp269His)	CA16616520	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1346335	biolink:SequenceVariant	NM_001754.5(RUNX1):c.92T>C (p.Val31Ala)	CA410205656	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1410456	biolink:SequenceVariant	NM_001754.5(RUNX1):c.986C>T (p.Ala329Val)	CA410148782	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2116456	biolink:SequenceVariant	NM_001754.5(RUNX1):c.983C>A (p.Thr328Lys)	CA410148798	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2003023	biolink:SequenceVariant	NM_001754.5(RUNX1):c.994G>T (p.Asp332Tyr)	CA10014226	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339880	biolink:SequenceVariant	NM_001754.5(RUNX1):c.-67G>A	CA10650446	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:895826	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1078A>G	CA320250463	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339847	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1295G>A	CA10653566	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:898860	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*134C>T	CA320251021	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339834	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2320T>G	CA10653560	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:896042	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2347C>A	CA320249638	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339814	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3138C>G	CA10653552	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:897697	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*316G>T	CA320250819	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:897570	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3557C>T	CA320248552	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:897093	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*3642C>T	CA1139666828	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339861	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*587T>A	CA10653572	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:965008	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1073C>A (p.Thr358Lys)	CA410148217	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1022964	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1106C>T (p.Ser369Leu)	CA10014200	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:934759	biolink:SequenceVariant	NM_001754.5(RUNX1):c.115C>T (p.Arg39Cys)	CA410204280	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:417952	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1294T>C (p.Cys432Arg)	CA16616940	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:316212	biolink:SequenceVariant	NM_001482.3(GATM):c.222C>T (p.Pro74=)	CA7542974	HGNC:4175	NCBITaxon:9606	Homo sapiens
CLINVAR:449185	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile)	CA10549177	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:588254	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp)	CA891843978	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:2181706	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)	CA10549212	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1562414	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.645-19A>G	CA2573159473	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:511341	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.778-8C>G	CA10549325	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:917570	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.833G>A (p.Arg278His)	CA10549337	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1676188	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His)	CA415084029	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:9679	biolink:SequenceVariant	m.14846G>A	CA120617		NCBITaxon:9606	Homo sapiens
CLINVAR:9681	biolink:SequenceVariant	m.15150G>A	CA120619		NCBITaxon:9606	Homo sapiens
CLINVAR:382591	biolink:SequenceVariant	NM_001083962.2(TCF4):c.594G>T (p.Ser198=)	CA16608777	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:9662	biolink:SequenceVariant	m.7896G>A	CA120607		NCBITaxon:9606	Homo sapiens
CLINVAR:995600	biolink:SequenceVariant	NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	CA374971982	HGNC:3349	NCBITaxon:9606	Homo sapiens
CA16020765	biolink:SequenceVariant	NM_001354304.2:c.317T>C	CA16020765	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102683	biolink:SequenceVariant	NM_000277.3(PAH):c.452A>G (p.Asp151Gly)	CA229554	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102682	biolink:SequenceVariant	NM_000277.3(PAH):c.451G>C (p.Asp151His)	CA229553	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102636	biolink:SequenceVariant	NM_000277.3(PAH):c.232G>A (p.Glu78Lys)	CA229495	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102637	biolink:SequenceVariant	NM_000277.3(PAH):c.241A>C (p.Thr81Pro)	CA229497	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA16020793	biolink:SequenceVariant	NM_001354304.2:c.453T>A	CA16020793	HGNC:8582	NCBITaxon:9606	Homo sapiens
CA386296891	biolink:SequenceVariant	NM_001354304.2:c.552G>T	CA386296891	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:102695	biolink:SequenceVariant	NM_000277.3(PAH):c.479A>C (p.Gln160Pro)	CA229573	HGNC:8582	NCBITaxon:9606	Homo sapiens
CLINVAR:134528	biolink:SequenceVariant	NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)	CA160099	HGNC:6024	NCBITaxon:9606	Homo sapiens
CLINVAR:9658	biolink:SequenceVariant	m.7587T>C	CA120604		NCBITaxon:9606	Homo sapiens
CLINVAR:9665	biolink:SequenceVariant	m.6721T>C	CA120610		NCBITaxon:9606	Homo sapiens
CLINVAR:430687	biolink:SequenceVariant	NC_012920.1:m.12271T>C	CA645373343		NCBITaxon:9606	Homo sapiens
CLINVAR:9599	biolink:SequenceVariant	m.3249G>A	CA254840		NCBITaxon:9606	Homo sapiens
CLINVAR:9587	biolink:SequenceVariant	m.12320A>G	CA254838		NCBITaxon:9606	Homo sapiens
CLINVAR:9595	biolink:SequenceVariant	m.3251A>G	CA120565		NCBITaxon:9606	Homo sapiens
CLINVAR:689861	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.3255G>A	CA913169011		NCBITaxon:9606	Homo sapiens
CLINVAR:689895	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.4372C>T	CA913177906		NCBITaxon:9606	Homo sapiens
CLINVAR:692361	biolink:SequenceVariant	NC_012920.1(MT-ND1):m.3502T>C	CA414772918		NCBITaxon:9606	Homo sapiens
CLINVAR:812543	biolink:SequenceVariant	NC_012920.1(MT-TN):m.5702A>G	CA913180290		NCBITaxon:9606	Homo sapiens
CLINVAR:9216	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg)	CA120226	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:2580875	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)	CA409108855	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:558316	biolink:SequenceVariant	NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)	CA658823287	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:444626	biolink:SequenceVariant	NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	CA2802458	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:92644	biolink:SequenceVariant	NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)	CA220511	HGNC:5391	NCBITaxon:9606	Homo sapiens
CA2573332224	biolink:SequenceVariant	NM_001363576.1:c.630del	CA2573332224	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:2704858	biolink:SequenceVariant	NM_001363576.1:c.927C>A	CA355963971	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1323099	biolink:SequenceVariant	NM_000203.5(IDUA):c.1402+1G>T	CA355964387	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:92636	biolink:SequenceVariant	NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)	CA220505	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1323098	biolink:SequenceVariant	NM_000203.5(IDUA):c.1A>G (p.Met1Val)	CA355945206	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:638074	biolink:SequenceVariant	NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)	CA2802098	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:828094	biolink:SequenceVariant	NM_000203.5(IDUA):c.1163del (p.Thr388fs)	CA915942984	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:193061	biolink:SequenceVariant	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	CA274902	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:222994	biolink:SequenceVariant	NM_000203.5(IDUA):c.386-2A>G	CA356991	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:92643	biolink:SequenceVariant	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	CA220509	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:557616	biolink:SequenceVariant	NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)	CA355963597	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1406350	biolink:SequenceVariant	NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr)	CA91167878	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1968567	biolink:SequenceVariant	NM_000203.5(IDUA):c.669C>G (p.Asp223Glu)	CA355962032	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:905912	biolink:SequenceVariant	NM_000203.5(IDUA):c.964G>T (p.Val322Leu)	CA355962863	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1309246	biolink:SequenceVariant	NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)	CA355964729	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:967585	biolink:SequenceVariant	NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)	CA2802176	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1384361	biolink:SequenceVariant	NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn)	CA355963434	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1458769	biolink:SequenceVariant	NM_000203.5(IDUA):c.236C>T (p.Ala79Val)	CA356987	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:557260	biolink:SequenceVariant	NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)	CA658823289	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:1455223	biolink:SequenceVariant	NM_000203.5(IDUA):c.536C>T (p.Thr179Met)	CA2801986	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:11920	biolink:SequenceVariant	NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	CA256121		NCBITaxon:9606	Homo sapiens
CLINVAR:551675	biolink:SequenceVariant	NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)	CA91170412	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:2198440	biolink:SequenceVariant	NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)	CA2801988	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:557205	biolink:SequenceVariant	NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)	CA2802184	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:183099	biolink:SequenceVariant	NM_000527.5(LDLR):c.853C>T (p.His285Tyr)	CA023780	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:450684	biolink:SequenceVariant	NM_000527.5(LDLR):c.854A>G (p.His285Arg)	CA404080674	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251487	biolink:SequenceVariant	NM_000527.5(LDLR):c.855C>A (p.His285Gln)	CA10585161	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:18286	biolink:SequenceVariant	NM_001100.4(ACTA1):c.414C>G (p.Ile138Met)	CA258142	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:464113	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro)	CA345144596	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:1303122	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln)	CA345144656	HGNC:129	NCBITaxon:9606	Homo sapiens
CA345144077	biolink:SequenceVariant	NM_001100.4:c.1127G>C	CA345144077	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:835545	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)	CA345144479	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:1051987	biolink:SequenceVariant	NM_001100.4(ACTA1):c.617-5C>A	CA2499214555	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:127188	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)	CA269775	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:1034583	biolink:SequenceVariant	NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile)	CA345149813	HGNC:129	NCBITaxon:9606	Homo sapiens
CA400021704	biolink:SequenceVariant	NM_000212.3:c.383T>G	CA400021704	HGNC:6156	NCBITaxon:9606	Homo sapiens
CA8603165	biolink:SequenceVariant	NM_000419.5:c.1355T>G	CA8603165	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA399804710	biolink:SequenceVariant	NM_000419.5:c.989A>T	CA399804710	HGNC:6138	NCBITaxon:9606	Homo sapiens
CA500262444	biolink:SequenceVariant	NM_000419.5:c.2943G>A	CA500262444	HGNC:6138	NCBITaxon:9606	Homo sapiens
CLINVAR:9734	biolink:SequenceVariant	m.3946G>A	CA254862		NCBITaxon:9606	Homo sapiens
CLINVAR:9735	biolink:SequenceVariant	m.3949T>C	CA254863		NCBITaxon:9606	Homo sapiens
CLINVAR:155880	biolink:SequenceVariant	NC_012920.1:m.3481G>A	CA345910		NCBITaxon:9606	Homo sapiens
CLINVAR:800504	biolink:SequenceVariant	NC_012920.1(MT-ND1):m.3761C>A	CA414773453		NCBITaxon:9606	Homo sapiens
CLINVAR:155887	biolink:SequenceVariant	NC_012920.1:m.10254G>A	CA345916		NCBITaxon:9606	Homo sapiens
CLINVAR:9706	biolink:SequenceVariant	m.10563T>C	CA250589		NCBITaxon:9606	Homo sapiens
CLINVAR:9660	biolink:SequenceVariant	m.7671T>A	CA120605		NCBITaxon:9606	Homo sapiens
CA414773311	biolink:SequenceVariant	NC_012920.1:m.3688G>A	CA414773311		NCBITaxon:9606	Homo sapiens
CLINVAR:9671	biolink:SequenceVariant	m.6328C>T	CA120615		NCBITaxon:9606	Homo sapiens
CLINVAR:9561	biolink:SequenceVariant	m.12207G>A	CA120545		NCBITaxon:9606	Homo sapiens
CLINVAR:1802530	biolink:SequenceVariant	NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu)	CA6831850	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:994542	biolink:SequenceVariant	NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)	CA244536194	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386972790	biolink:SequenceVariant	NM_001306179.2:c.1658A>G	CA386972790	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966029	biolink:SequenceVariant	NM_001306179.2:c.770A>G	CA386966029	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386966026	biolink:SequenceVariant	NM_001306179.2:c.770A>C	CA386966026	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:2758582	biolink:SequenceVariant	NM_000545.8(HNF1A):c.769A>C (p.Asn257His)	CA386966010	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA1310372689	biolink:SequenceVariant	NM_175914.5:c.914dup	CA1310372689	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1700663	biolink:SequenceVariant	NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)	CA409108460	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108558	biolink:SequenceVariant	NM_175914.5:c.1000C>T	CA409108558	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:143710	biolink:SequenceVariant	NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)	CA270535	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:252226	biolink:SequenceVariant	NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)	CA10585779	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252227	biolink:SequenceVariant	NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)	CA10585780	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251118	biolink:SequenceVariant	NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)	CA042749	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251119	biolink:SequenceVariant	NM_000527.5(LDLR):c.292G>C (p.Gly98Arg)	CA10584830	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:889190	biolink:SequenceVariant	NM_000527.5(LDLR):c.292G>T (p.Gly98Cys)	CA404075778	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:920443	biolink:SequenceVariant	NM_000527.5(LDLR):c.293G>C (p.Gly98Ala)	CA404075781	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251909	biolink:SequenceVariant	NM_000527.5(LDLR):c.1586+5G>A	CA035154	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:987818	biolink:SequenceVariant	NM_175914.5(HNF4A):c.956T>C (p.Leu319Pro)	CA409108350	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108532	biolink:SequenceVariant	NM_175914.5:c.994C>T	CA409108532	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2573106208	biolink:SequenceVariant	NM_175914.5:c.1061del	CA2573106208	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA4239711	biolink:SequenceVariant	NM_033508.3:c.159T>G	CA4239711	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367400485	biolink:SequenceVariant	NM_033508.3:c.818A>G	CA367400485	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367402020	biolink:SequenceVariant	NM_033508.3:c.421A>T	CA367402020	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403047	biolink:SequenceVariant	NM_033508.3:c.229G>A	CA367403047	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403045	biolink:SequenceVariant	NM_033508.3:c.229G>C	CA367403045	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403035	biolink:SequenceVariant	NM_033508.3:c.231C>G	CA367403035	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:2500039	biolink:SequenceVariant	NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)	CA367403044	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403041	biolink:SequenceVariant	NM_033508.3:c.230A>G	CA367403041	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401329	biolink:SequenceVariant	NM_033508.3:c.616G>T	CA367401329	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:447385	biolink:SequenceVariant	NM_000162.5(GCK):c.1155dup (p.Leu386fs)	CA658655961	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399062	biolink:SequenceVariant	NM_001354803.2:c.122A>G	CA367399062	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:36175	biolink:SequenceVariant	NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)	CA213713	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401225	biolink:SequenceVariant	NM_033508.3:c.647A>T	CA367401225	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401223	biolink:SequenceVariant	NM_033508.3:c.648C>A	CA367401223	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401222	biolink:SequenceVariant	NM_033508.3:c.648C>G	CA367401222	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401656	biolink:SequenceVariant	NM_033508.3:c.528A>T	CA367401656	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401662	biolink:SequenceVariant	NM_033508.3:c.527A>G	CA367401662	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399044	biolink:SequenceVariant	NM_001354803.2:c.125G>T	CA367399044	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399038	biolink:SequenceVariant	NM_001354803.2:c.126C>G	CA367399038	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:311	biolink:SequenceVariant	NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe)	CA114164	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100330	biolink:SequenceVariant	NM_000552.5(VWF):c.4121G>A (p.Arg1374His)	CA228541	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100177	biolink:SequenceVariant	NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro)	CA228265	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100281	biolink:SequenceVariant	NM_000552.5(VWF):c.3802C>G (p.His1268Asp)	CA228445	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:11500	biolink:SequenceVariant	NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	CA121519	HGNC:11411	NCBITaxon:9606	Homo sapiens
CLINVAR:9572	biolink:SequenceVariant	m.15967G>A	CA120550		NCBITaxon:9606	Homo sapiens
CLINVAR:155882	biolink:SequenceVariant	NC_012920.1:m.5523T>G	CA345912		NCBITaxon:9606	Homo sapiens
CLINVAR:36342	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)	CA213892	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:9557	biolink:SequenceVariant	m.5532G>A	CA120542		NCBITaxon:9606	Homo sapiens
CLINVAR:188785	biolink:SequenceVariant	NM_000152.5(GAA):c.1A>G (p.Met1Val)	CA273952	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:972798	biolink:SequenceVariant	NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	CA8815557	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA658820951	biolink:SequenceVariant	NM_001313913.2:c.854_860del	CA658820951		NCBITaxon:9606	Homo sapiens
CA414915806	biolink:SequenceVariant	NM_000132.3:c.1244C>T	CA414915806	HGNC:3546	NCBITaxon:9606	Homo sapiens
CA414916092	biolink:SequenceVariant	NM_000132.3:c.1214T>C	CA414916092	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:627143	biolink:SequenceVariant	NM_000133.4(F9):c.802T>A (p.Cys268Ser)	CA414443531	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:225114	biolink:SequenceVariant	NM_000152.5(GAA):c.854C>G (p.Pro285Arg)	CA358045	HGNC:4065	NCBITaxon:9606	Homo sapiens
CA414917900	biolink:SequenceVariant	NM_000132.4:c.923C>G	CA414917900	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:798429	biolink:SequenceVariant	NM_000133.4(F9):c.471T>C (p.Cys157=)	CA518861298	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:30005	biolink:SequenceVariant	m.586G>A	CA128831		NCBITaxon:9606	Homo sapiens
CLINVAR:586011	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg)	CA409108858	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409110117	biolink:SequenceVariant	NM_175914.5:c.1139T>G	CA409110117	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:251736	biolink:SequenceVariant	NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile)	CA10585360	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251479	biolink:SequenceVariant	NM_000527.5(LDLR):c.826T>C (p.Cys276Arg)	CA10585154	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:9550	biolink:SequenceVariant	m.5874T>C	CA120538		NCBITaxon:9606	Homo sapiens
CLINVAR:40158	biolink:SequenceVariant	NC_012920.1:m.7443A>G	CA347798		NCBITaxon:9606	Homo sapiens
CLINVAR:9568	biolink:SequenceVariant	NC_012920.1(MT-TS1):m.7445A>C	CA340923		NCBITaxon:9606	Homo sapiens
CLINVAR:631469	biolink:SequenceVariant	NC_012920.1(MT-TS1):m.7445A>T	CA414792846		NCBITaxon:9606	Homo sapiens
CLINVAR:689913	biolink:SequenceVariant	NC_012920.1(MT-CYB):m.4437C>T	CA913178150		NCBITaxon:9606	Homo sapiens
CLINVAR:692466	biolink:SequenceVariant	NC_012920.1(MT-ND2):m.4611del	CA915952200		NCBITaxon:9606	Homo sapiens
CLINVAR:439962	biolink:SequenceVariant	NC_012920.1:m.4983C>T	CA414778366		NCBITaxon:9606	Homo sapiens
CLINVAR:692585	biolink:SequenceVariant	NC_012920.1(MT-ND2):m.5367_5385del	CA915952205		NCBITaxon:9606	Homo sapiens
CLINVAR:9656	biolink:SequenceVariant	m.9537dupC	CA120602		NCBITaxon:9606	Homo sapiens
CLINVAR:370050	biolink:SequenceVariant	NC_012920.1:m.8418T>C	CA16040650		NCBITaxon:9606	Homo sapiens
CLINVAR:692961	biolink:SequenceVariant	NC_012920.1(MT-ATP6):m.8719G>A	CA337098000		NCBITaxon:9606	Homo sapiens
CLINVAR:551295	biolink:SequenceVariant	NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)	CA8815317	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:2149933	biolink:SequenceVariant	NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)	CA23569514	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:865841	biolink:SequenceVariant	NM_000329.3(RPE65):c.1040G>A (p.Arg347His)	CA902309	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98823	biolink:SequenceVariant	NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)	CA226480	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:978979	biolink:SequenceVariant	NM_000329.3(RPE65):c.1129-2A>G	CA340743482	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:968598	biolink:SequenceVariant	NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)	CA902590	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA902401	biolink:SequenceVariant	NM_000329.3:c.762G>T	CA902401	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:560496	biolink:SequenceVariant	NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)	CA340741969	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:556178	biolink:SequenceVariant	NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	CA340744630	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:98854	biolink:SequenceVariant	NM_000329.3(RPE65):c.235T>C (p.Tyr79His)	CA226528	HGNC:10294	NCBITaxon:9606	Homo sapiens
CA340744926	biolink:SequenceVariant	NM_000329.3:c.912C>A	CA340744926	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:942448	biolink:SequenceVariant	NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)	CA340744901	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:870346	biolink:SequenceVariant	NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)	CA902499	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:865946	biolink:SequenceVariant	NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)	CA340748300	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:13116	biolink:SequenceVariant	NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	CA226509	HGNC:10294	NCBITaxon:9606	Homo sapiens
CLINVAR:521371	biolink:SequenceVariant	NM_001100.4(ACTA1):c.868G>C (p.Asp290His)	CA345145962	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:464114	biolink:SequenceVariant	NM_001100.4(ACTA1):c.109G>T (p.Val37Leu)	CA345151305	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:1452968	biolink:SequenceVariant	NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)	CA345151235	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:18292	biolink:SequenceVariant	NM_001100.4(ACTA1):c.493G>A (p.Val165Met)	CA258144	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:338429	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1216+6C>A	CA9870503	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:129237	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)	CA231163	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409110424	biolink:SequenceVariant	NM_175914.5:c.1283C>G	CA409110424	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:811	biolink:SequenceVariant	NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)	CA009520	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:598113	biolink:SequenceVariant	NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser)	CA8970151	HGNC:11634	NCBITaxon:9606	Homo sapiens
CLINVAR:4022	biolink:SequenceVariant	NM_000152.4(GAA):c.1561G>A (p.Glu521Lys)	CA116593	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:188484	biolink:SequenceVariant	NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)	CA198797	HGNC:4065	NCBITaxon:9606	Homo sapiens
CLINVAR:375778	biolink:SequenceVariant	NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)	CA042408	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:569548	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	CA8338048	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:439360	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	CA8337965	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:464139	biolink:SequenceVariant	NM_001100.4(ACTA1):c.990+1G>T	CA1442746	HGNC:129	NCBITaxon:9606	Homo sapiens
CA915940544	biolink:SequenceVariant	NM_001100.4:c.1092del	CA915940544	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:420100	biolink:SequenceVariant	NM_001100.4(ACTA1):c.541del (p.Asp181fs)	CA1442845	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:280863	biolink:SequenceVariant	NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	CA1442883	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:817462	biolink:SequenceVariant	NM_001100.4(ACTA1):c.217dup (p.Ile73fs)	CA915942047	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:12881	biolink:SequenceVariant	NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile)	CA122775	HGNC:10588	NCBITaxon:9606	Homo sapiens
CLINVAR:1423525	biolink:SequenceVariant	NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)	CA415169171	HGNC:6990	NCBITaxon:9606	Homo sapiens
CA2581998917	biolink:SequenceVariant	NM_001354906.2:c.1697_1703del	CA2581998917	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:428153	biolink:SequenceVariant	NM_000038.6(APC):c.1743G>C (p.Lys581Asn)	CA16025124	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:433598	biolink:SequenceVariant	NM_000038.6(APC):c.220+1G>A	CA360617465	HGNC:583	NCBITaxon:9606	Homo sapiens
CLINVAR:9213	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)	CA120217	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409110369	biolink:SequenceVariant	NM_175914.5:c.1256C>G	CA409110369	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1687103	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)	CA2580061383	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18033	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp)	CA210785	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18020	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)	CA210768	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18007	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro)	CA210750	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:626996	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp)	CA343772066	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:18032	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)	CA210783	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:2734038	biolink:SequenceVariant	NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)	CA343772824	HGNC:775	NCBITaxon:9606	Homo sapiens
CLINVAR:2505626	biolink:SequenceVariant	NM_001110792.2(MECP2):c.380G>A (p.Arg127His)	CA10558640	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:804125	biolink:SequenceVariant	NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)	CA415173958	HGNC:6990	NCBITaxon:9606	Homo sapiens
CLINVAR:160202	biolink:SequenceVariant	NM_130839.5(UBE3A):c.176G>A (p.Arg59His)	CA173802	HGNC:12496	NCBITaxon:9606	Homo sapiens
CLINVAR:200921	biolink:SequenceVariant	NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	CA023567	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183124	biolink:SequenceVariant	NM_000527.5(LDLR):c.1747C>G (p.His583Asp)	CA023564	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252012	biolink:SequenceVariant	NM_000527.5(LDLR):c.1748A>G (p.His583Arg)	CA10585595	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:441220	biolink:SequenceVariant	NM_000527.5(LDLR):c.1749C>G (p.His583Gln)	CA404089716	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252014	biolink:SequenceVariant	NM_000527.5(LDLR):c.1749C>A (p.His583Gln)	CA10585596	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:11909	biolink:SequenceVariant	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	CA204563	HGNC:5391	NCBITaxon:9606	Homo sapiens
CA2573332225	biolink:SequenceVariant	NM_001363576.1:c.686del	CA2573332225	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:11908	biolink:SequenceVariant	NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	CA220498	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:11910	biolink:SequenceVariant	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	CA256112	HGNC:5391	NCBITaxon:9606	Homo sapiens
CLINVAR:36211	biolink:SequenceVariant	NM_000162.5(GCK):c.304A>T (p.Lys102Ter)	CA213775	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:931741	biolink:SequenceVariant	NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)	CA9870228	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409104248	biolink:SequenceVariant	NM_175914.5:c.270C>G	CA409104248	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447400	biolink:SequenceVariant	NM_000162.5(GCK):c.46-2A>G	CA367403894	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1031829	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)	CA345144971	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:427190	biolink:SequenceVariant	NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn)	CA345150874	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:801630	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)	CA345144073	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:431989	biolink:SequenceVariant	NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)	CA345144203	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:654469	biolink:SequenceVariant	NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)	CA345150112	HGNC:129	NCBITaxon:9606	Homo sapiens
CLINVAR:2136532	biolink:SequenceVariant	NM_000162.5(GCK):c.46-1G>A	CA367403889	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:812824	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val)	CA350341667	HGNC:1078	NCBITaxon:9606	Homo sapiens
CA367403885	biolink:SequenceVariant	NM_033508.3:c.43-1G>T	CA367403885	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367403876	biolink:SequenceVariant	NM_033508.3:c.44T>A	CA367403876	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1405428	biolink:SequenceVariant	NM_000162.5(GCK):c.48_50del (p.Glu17del)	CA2573142156	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:1676825	biolink:SequenceVariant	NM_000162.5(GCK):c.54G>T (p.Gln18His)	CA367403838	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA386960416	biolink:SequenceVariant	NM_001306179.2:c.478G>A	CA386960416	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2621383482	biolink:SequenceVariant	NC_000012.12:g.120978485C>T	CA2621383482		NCBITaxon:9606	Homo sapiens
CLINVAR:1761584	biolink:SequenceVariant	NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)	CA9870022	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1679313	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1127T>G (p.Met376Arg)	CA409110090	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA9870528	biolink:SequenceVariant	NM_175914.5:c.1291G>A	CA9870528	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:425882	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1151C>T (p.Ala384Val)	CA350341728	HGNC:1078	NCBITaxon:9606	Homo sapiens
CA409106085	biolink:SequenceVariant	NM_175914.5:c.530T>A	CA409106085	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1399408	biolink:SequenceVariant	NM_175914.5(HNF4A):c.530T>C (p.Val177Ala)	CA409106086	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA2573320359	biolink:SequenceVariant	NM_175914.5:c.953_958dup	CA2573320359	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:812825	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser)	CA350341785	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425892	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser)	CA350341841	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:812826	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1217T>G (p.Met406Arg)	CA350341879	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425895	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1220A>C (p.Tyr407Ser)	CA350341886	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:65961	biolink:SequenceVariant	NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)	CA024091	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:65923	biolink:SequenceVariant	NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)	CA024459	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:328993	biolink:SequenceVariant	NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)	CA10642702	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:212104	biolink:SequenceVariant	NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)	CA067890	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:651289	biolink:SequenceVariant	NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)	CA074266	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:571399	biolink:SequenceVariant	NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu)	CA308120058	HGNC:10483	NCBITaxon:9606	Homo sapiens
CLINVAR:425897	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1228G>A (p.Gly410Arg)	CA350341903	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:812827	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg)	CA350341904	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425905	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1257A>T (p.Arg419Ser)	CA350341975	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:10573	biolink:SequenceVariant	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	CA255318	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:811516	biolink:SequenceVariant	NM_000133.4(F9):c.520G>A (p.Val174Met)	CA414439515	HGNC:3551	NCBITaxon:9606	Homo sapiens
CLINVAR:140555	biolink:SequenceVariant	NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)	CA232789	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:2166	biolink:SequenceVariant	NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	CA130516	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:282006	biolink:SequenceVariant	NM_213599.3(ANO5):c.648+5G>C	CA10604030	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:627324	biolink:SequenceVariant	NM_000132.3(F8):c.5217C>T (p.Asn1739=)	CA519374734	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:195634	biolink:SequenceVariant	NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)	CA242118	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:439677	biolink:SequenceVariant	NM_000132.4(F8):c.5186G>A (p.Gly1729Glu)	CA414913556	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:96688	biolink:SequenceVariant	NM_213599.3(ANO5):c.989dup (p.Leu330fs)	CA200776	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:468825	biolink:SequenceVariant	NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)	CA379924765	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:286467	biolink:SequenceVariant	NM_213599.3(ANO5):c.139-1del	CA10605474	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:284518	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)	CA10604828	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:286592	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1524G>A (p.Glu508=)	CA10605515	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:17615	biolink:SequenceVariant	NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)	CA341471	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:496977	biolink:SequenceVariant	NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)	CA269832799	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:92411	biolink:SequenceVariant	NM_000070.2(CAPN3):c.223dup	CA220346		NCBITaxon:9606	Homo sapiens
CLINVAR:1072479	biolink:SequenceVariant	NM_000070.3(CAPN3):c.219del (p.Leu74fs)	CA2499222909	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:217159	biolink:SequenceVariant	NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	CA347563		NCBITaxon:9606	Homo sapiens
CLINVAR:282623	biolink:SequenceVariant	NM_000070.3(CAPN3):c.700G>A (p.Gly234Arg)	CA10604244	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:284946	biolink:SequenceVariant	NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	CA10604967	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:594086	biolink:SequenceVariant	NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)	CA626689324	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:452720	biolink:SequenceVariant	NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	CA8643859	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:37202	biolink:SequenceVariant	NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	CA130100	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:497670	biolink:SequenceVariant	NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)	CA400180670	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:198031	biolink:SequenceVariant	NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	CA246512	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:497672	biolink:SequenceVariant	NM_000023.4(SGCA):c.585-1G>A	CA400180251	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:9437	biolink:SequenceVariant	NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	CA120427	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:978048	biolink:SequenceVariant	NM_000023.4(SGCA):c.957-11C>G	CA626689269	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:523842	biolink:SequenceVariant	NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)	CA96782984	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:284504	biolink:SequenceVariant	NM_000232.5(SGCB):c.199_210del (p.Cys67_Ile70del)	CA10604820	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:370474	biolink:SequenceVariant	NM_000232.5(SGCB):c.699_702del (p.Phe233fs)	CA16040953	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:551805	biolink:SequenceVariant	NM_000232.5(SGCB):c.265G>A (p.Val89Met)	CA2918446	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:8714	biolink:SequenceVariant	NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)	CA2918420	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:1451826	biolink:SequenceVariant	NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)	CA387502402	HGNC:10809	NCBITaxon:9606	Homo sapiens
CLINVAR:289650	biolink:SequenceVariant	NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	CA10606508	HGNC:10809	NCBITaxon:9606	Homo sapiens
CLINVAR:836267	biolink:SequenceVariant	NM_000231.3(SGCG):c.703-1G>C	CA387503468	HGNC:10809	NCBITaxon:9606	Homo sapiens
CLINVAR:189243	biolink:SequenceVariant	NM_000231.3(SGCG):c.525del (p.Phe175fs)	CA346837	HGNC:10809	NCBITaxon:9606	Homo sapiens
CLINVAR:2008	biolink:SequenceVariant	NM_000231.3(SGCG):c.87dup (p.Gly30fs)	CA6909562	HGNC:10809	NCBITaxon:9606	Homo sapiens
CLINVAR:192194	biolink:SequenceVariant	NM_000337.6(SGCD):c.91C>G (p.Arg31Gly)	CA200046	HGNC:10807	NCBITaxon:9606	Homo sapiens
CLINVAR:652862	biolink:SequenceVariant	NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)	CA3530486	HGNC:10807	NCBITaxon:9606	Homo sapiens
CLINVAR:8172	biolink:SequenceVariant	NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	CA340747	HGNC:10807	NCBITaxon:9606	Homo sapiens
CLINVAR:202088	biolink:SequenceVariant	NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)	CA308788	HGNC:10807	NCBITaxon:9606	Homo sapiens
CLINVAR:1677453	biolink:SequenceVariant	NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)	CA3530549	HGNC:10807	NCBITaxon:9606	Homo sapiens
CLINVAR:288644	biolink:SequenceVariant	NM_001130987.2(DYSF):c.2865-2A>C	CA10606168	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:217224	biolink:SequenceVariant	NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)	CA277611	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:290209	biolink:SequenceVariant	NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)	CA10606688	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:94365	biolink:SequenceVariant	NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)	CA222220	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:282861	biolink:SequenceVariant	NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)	CA10604325		NCBITaxon:9606	Homo sapiens
CLINVAR:195490	biolink:SequenceVariant	NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)	CA241938	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:94291	biolink:SequenceVariant	NM_001130987.2(DYSF):c.2697+1G>A	CA222141	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:936623	biolink:SequenceVariant	NM_001130987.2(DYSF):c.2697+1G>C	CA347214076	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:6685	biolink:SequenceVariant	NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)	CA233930	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:94347	biolink:SequenceVariant	NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)	CA222196	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:2674990	biolink:SequenceVariant	NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)	CA347226407	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:288647	biolink:SequenceVariant	NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)	CA10606170	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:2734216	biolink:SequenceVariant	NM_001130987.2(DYSF):c.2002del (p.Leu668fs)	CA1139532911	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:283205	biolink:SequenceVariant	NM_001130987.2(DYSF):c.4614del (p.Phe1538fs)	CA10604426	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:6684	biolink:SequenceVariant	NM_001130987.2(DYSF):c.951+1del	CA253921	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:1803708	biolink:SequenceVariant	NM_001130987.2(DYSF):c.3180G>A (p.Trp1060Ter)	CA347217077	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:94278	biolink:SequenceVariant	NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)	CA222133	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:555968	biolink:SequenceVariant	NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	CA1706888	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:312	biolink:SequenceVariant	NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys)	CA114166	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:100208	biolink:SequenceVariant	NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)	CA228314	HGNC:12726	NCBITaxon:9606	Homo sapiens
CLINVAR:813985	biolink:SequenceVariant	NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)	CA1706701	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:653601	biolink:SequenceVariant	NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs)	CA915944059	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:17621	biolink:SequenceVariant	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CA220352	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:217151	biolink:SequenceVariant	NM_000070.3(CAPN3):c.146G>A (p.Arg49His)	CA347493	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:620114	biolink:SequenceVariant	NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)	CA7511203	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:17618	biolink:SequenceVariant	NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	CA127307	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:501754	biolink:SequenceVariant	NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	CA16609628	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:92408	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1746-20C>G	CA220343	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:65693	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)	CA345036	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:197624	biolink:SequenceVariant	NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	CA346886	HGNC:1480	NCBITaxon:9606	Homo sapiens
CA2830782976	biolink:SequenceVariant	NM_001142805.2:c.1737+1_1737+2insA	CA2830782976	HGNC:11055	NCBITaxon:9606	Homo sapiens
CA2582131592	biolink:SequenceVariant	NM_001142805.2:c.250_255del	CA2582131592	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:217147	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	CA347525	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:17622	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	CA341479	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:166790	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	CA233621	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:283259	biolink:SequenceVariant	NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)	CA7511779	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:289082	biolink:SequenceVariant	NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)	CA7511816	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:282873	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	CA7511304	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:497182	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)	CA7511222	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:554906	biolink:SequenceVariant	NM_000070.3(CAPN3):c.1838del (p.Lys613fs)	CA489885447	HGNC:1480	NCBITaxon:9606	Homo sapiens
CLINVAR:280226	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del)	CA10603706	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:1429635	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg)	CA415085315	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:651752	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)	CA915952142	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:499193	biolink:SequenceVariant	NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	CA2918445	HGNC:10806	NCBITaxon:9606	Homo sapiens
CA2695237858	biolink:SequenceVariant	NM_001142805.2:c.262_262+1delinsTT	CA2695237858	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:8712	biolink:SequenceVariant	NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	CA119849	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:804100	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)	CA415085444	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:9439	biolink:SequenceVariant	NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	CA120431	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:427187	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp)	CA415086679	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:92302	biolink:SequenceVariant	NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	CA220233	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:1336429	biolink:SequenceVariant	NM_005629.4(SLC6A8):c.1425C>T (p.Tyr475=)	CA519344994	HGNC:11055	NCBITaxon:9606	Homo sapiens
CLINVAR:217250	biolink:SequenceVariant	NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	CA210084	HGNC:10805	NCBITaxon:9606	Homo sapiens
CLINVAR:197402	biolink:SequenceVariant	NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	CA202865	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:2164	biolink:SequenceVariant	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	CA115378	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:280322	biolink:SequenceVariant	NM_213599.3(ANO5):c.304_308del (p.Lys102fs)	CA5922882	HGNC:27337	NCBITaxon:9606	Homo sapiens
CLINVAR:370775	biolink:SequenceVariant	NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)	CA2918507	HGNC:10806	NCBITaxon:9606	Homo sapiens
CLINVAR:252122	biolink:SequenceVariant	NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)	CA10585689	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252121	biolink:SequenceVariant	NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)	CA10585688	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252132	biolink:SequenceVariant	NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe)	CA10585697	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:979168	biolink:SequenceVariant	NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro)	CA404093213	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250929	biolink:SequenceVariant	NC_000019.10:g.11089341A>T	CA10584693		NCBITaxon:9606	Homo sapiens
CLINVAR:407699	biolink:SequenceVariant	NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	CA16613125	HGNC:795	NCBITaxon:9606	Homo sapiens
CA2582343066	biolink:SequenceVariant	NR_147053.3:n.2299+9097_2299+9103del	CA2582343066	HGNC:28519	NCBITaxon:9606	Homo sapiens
CLINVAR:189177	biolink:SequenceVariant	NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	CA274462	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:232248	biolink:SequenceVariant	NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	CA6264503	HGNC:795	NCBITaxon:9606	Homo sapiens
CA2497029997	biolink:SequenceVariant	NM_000051.4:c.1782del	CA2497029997	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3148828	biolink:SequenceVariant	NM_000051.4:c.7308-14T>G	CA2582343067	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:646712	biolink:SequenceVariant	NM_000051.4(ATM):c.2508dup (p.Ser837fs)	CA6265054	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:482526	biolink:SequenceVariant	NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	CA6265757	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:135780	biolink:SequenceVariant	NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	CA293899	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:846136	biolink:SequenceVariant	NM_000051.4(ATM):c.7661A>G (p.His2554Arg)	CA501111	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:1422249	biolink:SequenceVariant	NM_000051.4(ATM):c.8678C>A (p.Ala2893Asp)	CA382523477	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:420008	biolink:SequenceVariant	NM_000051.4(ATM):c.590G>A (p.Gly197Glu)	CA6264634	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:857860	biolink:SequenceVariant	NM_000051.4(ATM):c.5177+1G>C	CA382541268	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:142355	biolink:SequenceVariant	NM_000051.4(ATM):c.6976-2A>C	CA294376	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:371636	biolink:SequenceVariant	NM_000051.4(ATM):c.5005+1G>T	CA16041413	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:185137	biolink:SequenceVariant	NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)	CA191131	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:826252	biolink:SequenceVariant	NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)	CA382551078	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:407482	biolink:SequenceVariant	NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)	CA16613046	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:141721	biolink:SequenceVariant	NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)	CA166228	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:142187	biolink:SequenceVariant	NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	CA294307	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:189104	biolink:SequenceVariant	NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	CA334794	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:233553	biolink:SequenceVariant	NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)	CA10579008	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:420368	biolink:SequenceVariant	NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)	CA16619147	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:140889	biolink:SequenceVariant	NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	CA163840	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3035	biolink:SequenceVariant	NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	CA193897	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:186242	biolink:SequenceVariant	NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	CA194225	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:3021	biolink:SequenceVariant	NM_000051.4(ATM):c.5763-1050A>G	CA115927	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:216024	biolink:SequenceVariant	NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	CA336868	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:417621	biolink:SequenceVariant	NM_000051.4(ATM):c.6116A>T (p.Glu2039Val)	CA16616706	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:221124	biolink:SequenceVariant	NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)	CA348719	HGNC:795	NCBITaxon:9606	Homo sapiens
CLINVAR:127374	biolink:SequenceVariant	NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	CA286815	HGNC:795	NCBITaxon:9606	Homo sapiens
CA915940463	biolink:SequenceVariant	NM_000051.4:c.6958del	CA915940463	HGNC:795	NCBITaxon:9606	Homo sapiens
CA414914388	biolink:SequenceVariant	NM_000132.4:c.1421G>A	CA414914388	HGNC:3546	NCBITaxon:9606	Homo sapiens
CLINVAR:2123722	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1382A>G (p.Asn461Ser)	CA410146982	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2420457	biolink:SequenceVariant	NM_001754.5(RUNX1):c.153G>T (p.Lys51Asn)	CA10014582	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3343122	biolink:SequenceVariant	NM_001754.5(RUNX1):c.926G>A (p.Gly309Asp)	CA10014268	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3351124	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*8G>C	CA637689326	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:897696	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*463C>T	CA1139666834	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2851140	biolink:SequenceVariant	NM_001754.5(RUNX1):c.911dup (p.Gly305fs)	CA2739267611	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3067798	biolink:SequenceVariant	NM_001754.5(RUNX1):c.801del (p.Met267fs)	CA2825002847	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2631353	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1173_1174del (p.Gln392fs)	CA2695201441	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2844927	biolink:SequenceVariant	NM_001754.5(RUNX1):c.318G>T (p.Trp106Cys)	CA410203495	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1299484	biolink:SequenceVariant	NM_001754.5(RUNX1):c.508+1G>C	CA410202462	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2501756	biolink:SequenceVariant	NM_001754.5(RUNX1):c.386dup (p.Val130fs)	CA2580616389	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2799017	biolink:SequenceVariant	NM_001754.5(RUNX1):c.696dup (p.Arg233fs)	CA2739267608	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2852907	biolink:SequenceVariant	NM_001754.5(RUNX1):c.458del (p.Asn153fs)	CA2739267617	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2997653	biolink:SequenceVariant	NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)	CA410150321	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3240390	biolink:SequenceVariant	NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)	CA2831039231	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2717092	biolink:SequenceVariant	NM_001754.5(RUNX1):c.528del (p.Ile177fs)	CA2697547494	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2632141	biolink:SequenceVariant	NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)	CA2695201454	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3370501	biolink:SequenceVariant	NM_001754.5(RUNX1):c.796C>T (p.Gln266Ter)	CA410206667	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1016211	biolink:SequenceVariant	NM_001754.5(RUNX1):c.737C>A (p.Thr246Lys)	CA410206793	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1512844	biolink:SequenceVariant	NM_001754.5(RUNX1):c.854A>G (p.Tyr285Cys)	CA410150149	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1412137	biolink:SequenceVariant	NM_001754.5(RUNX1):c.883T>C (p.Ser295Pro)	CA10014275	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1494340	biolink:SequenceVariant	NM_001754.5(RUNX1):c.77A>C (p.Asn26Thr)	CA10014633	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:964573	biolink:SequenceVariant	NM_001754.5(RUNX1):c.91G>A (p.Val31Ile)	CA10014631	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1042591	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1426G>A (p.Val476Met)	CA410146616	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1055781	biolink:SequenceVariant	NM_001754.5(RUNX1):c.670C>T (p.Arg224Trp)	CA410206945	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2096033	biolink:SequenceVariant	NM_001754.5(RUNX1):c.453G>T (p.Met151Ile)	CA10014511	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1491076	biolink:SequenceVariant	NM_001754.5(RUNX1):c.340A>G (p.Ile114Val)	CA410203388	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2758444	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1007T>G (p.Phe336Cys)	CA410148642	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1515908	biolink:SequenceVariant	NM_001754.5(RUNX1):c.781C>T (p.Pro261Ser)	CA410206700	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2860395	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805+4A>G	CA2739267606	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2792019	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1336C>T (p.Leu446Phe)	CA410147291	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2765874	biolink:SequenceVariant	NM_001754.5(RUNX1):c.978C>G (p.Asp326Glu)	CA410148812	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339840	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1938C>T	CA10652923	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3240387	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)	CA320251499	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1063856	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-3dup	CA2499225886	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:898791	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1400G>A	CA748900507	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:896106	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*821G>A	CA320250606	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2783241	biolink:SequenceVariant	NM_001754.5(RUNX1):c.59-11T>G	CA2739267619	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:895824	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*1293A>G	CA1139666832	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339836	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2217dup	CA10652919	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1701963	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*83G>A	CA2577483375	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:896107	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*801A>C	CA748900873	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:895756	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2912A>G	CA1139666831	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:339826	biolink:SequenceVariant	NM_001754.5(RUNX1):c.*2594_*2597del	CA10644626	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2752645	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1431G>C (p.Trp477Cys)	CA410146582	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2915634	biolink:SequenceVariant	NM_001754.5(RUNX1):c.806-16_806-13del	CA2577490157	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1002392	biolink:SequenceVariant	NM_001754.5(RUNX1):c.837G>T (p.Trp279Cys)	CA410150219	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2750603	biolink:SequenceVariant	NM_001754.5(RUNX1):c.154A>G (p.Met52Val)	CA410204103	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:962238	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1093G>A (p.Gly365Ser)	CA10014205	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1002692	biolink:SequenceVariant	NM_001754.5(RUNX1):c.107C>G (p.Thr36Arg)	CA410204303	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2715219	biolink:SequenceVariant	NM_001754.5(RUNX1):c.26C>A (p.Ser9Ter)	CA410208257	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1433502	biolink:SequenceVariant	NM_001754.5(RUNX1):c.718C>T (p.Pro240Ser)	CA410206832	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2887997	biolink:SequenceVariant	NM_001754.5(RUNX1):c.842A>G (p.Tyr281Cys)	CA410150203	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2810497	biolink:SequenceVariant	NM_001754.5(RUNX1):c.734C>T (p.Pro245Leu)	CA320603662	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2965488	biolink:SequenceVariant	NM_001754.5(RUNX1):c.144C>A (p.Ser48Arg)	CA410204142	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2738452	biolink:SequenceVariant	NM_001754.5(RUNX1):c.148G>C (p.Gly50Arg)	CA410204129	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:962783	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1042C>T (p.His348Tyr)	CA410148400	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2397690	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1274C>G (p.Pro425Arg)	CA410147539	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1018236	biolink:SequenceVariant	NM_001754.5(RUNX1):c.737C>G (p.Thr246Arg)	CA410206792	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2113692	biolink:SequenceVariant	NM_001754.5(RUNX1):c.160G>A (p.Glu54Lys)	CA410204071	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1036138	biolink:SequenceVariant	NM_001754.5(RUNX1):c.232A>G (p.Met78Val)	CA410203842	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2067605	biolink:SequenceVariant	NM_001754.5(RUNX1):c.197C>A (p.Ala66Asp)	CA410203938	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1019366	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1150C>T (p.Pro384Ser)	CA410147948	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:944258	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1012G>A (p.Ala338Thr)	CA410148609	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3240393	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)	CA410147809	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1580855	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805+9C>G	CA2573157344	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1056713	biolink:SequenceVariant	NM_001754.5(RUNX1):c.708G>A (p.Met236Ile)	CA410206855	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1635761	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-13C>T	CA410204352	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3240388	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)	CA410147715	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2770886	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1015C>G (p.Leu339Val)	CA410148592	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1010308	biolink:SequenceVariant	NM_001754.5(RUNX1):c.948A>C (p.Glu316Asp)	CA410149600	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2850038	biolink:SequenceVariant	NM_001754.5(RUNX1):c.914G>T (p.Gly305Val)	CA410149667	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1971169	biolink:SequenceVariant	NM_001754.5(RUNX1):c.58+12C>G	CA637749750	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2823312	biolink:SequenceVariant	NM_001754.5(RUNX1):c.947A>G (p.Glu316Gly)	CA410149602	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1037280	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1313G>A (p.Gly438Asp)	CA410147404	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2714614	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-7A>G	CA10014394	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:850021	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1172C>A (p.Ala391Glu)	CA410147875	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2805569	biolink:SequenceVariant	NM_001754.5(RUNX1):c.968-3C>A	CA2654377535	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2759147	biolink:SequenceVariant	NM_001754.5(RUNX1):c.613+12C>T	CA2697547493	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1590532	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-25CTCCC[4]	CA2580616387	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1004142	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1254G>A (p.Met418Ile)	CA410147637	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1043154	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1264G>C (p.Glu422Gln)	CA410147596	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1996609	biolink:SequenceVariant	NM_001754.5(RUNX1):c.509-11T>C	CA2580098644	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1039682	biolink:SequenceVariant	NM_001754.5(RUNX1):c.186C>G (p.Asp62Glu)	CA410203974	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2996309	biolink:SequenceVariant	NM_001754.5(RUNX1):c.614-5A>C	CA2387272448	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2717142	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1399G>A (p.Ala467Thr)	CA410146813	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2717108	biolink:SequenceVariant	NM_001754.5(RUNX1):c.993C>A (p.Ser331Arg)	CA410148731	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678497	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)	CA410147389	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1945048	biolink:SequenceVariant	NM_001754.5(RUNX1):c.221G>T (p.Gly74Val)	CA410203867	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2822749	biolink:SequenceVariant	NM_001754.5(RUNX1):c.772G>A (p.Ala258Thr)	CA410206722	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:936854	biolink:SequenceVariant	NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser)	CA410206789	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2863363	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1262G>C (p.Gly421Ala)	CA320251355	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2091961	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1303G>T (p.Ala435Ser)	CA410147444	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2866349	biolink:SequenceVariant	NM_001754.5(RUNX1):c.844G>C (p.Asp282His)	CA410150195	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2718922	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1252A>C (p.Met418Leu)	CA410147646	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2912549	biolink:SequenceVariant	NM_001754.5(RUNX1):c.196G>A (p.Ala66Thr)	CA410203944	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2799969	biolink:SequenceVariant	NM_001754.5(RUNX1):c.978C>A (p.Asp326Glu)	CA410148813	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2995907	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1312G>A (p.Gly438Ser)	CA410147412	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2035147	biolink:SequenceVariant	NM_001754.5(RUNX1):c.123G>C (p.Thr41=)	CA512318986	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:855262	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1370G>T (p.Gly457Val)	CA410147084	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2428796	biolink:SequenceVariant	NM_001754.5(RUNX1):c.657G>A (p.Leu219=)	CA512318678	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1508015	biolink:SequenceVariant	NM_001754.5(RUNX1):c.772G>T (p.Ala258Ser)	CA410206723	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:464010	biolink:SequenceVariant	NM_001754.5(RUNX1):c.848A>G (p.Gln283Arg)	CA410150174	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:463978	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg)	CA410147802	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2201687	biolink:SequenceVariant	NM_001754.5(RUNX1):c.211C>G (p.Leu71Val)	CA410203889	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2198524	biolink:SequenceVariant	NM_001754.5(RUNX1):c.31C>G (p.Pro11Ala)	CA410208246	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2163488	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1286T>C (p.Leu429Pro)	CA410147504	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2161020	biolink:SequenceVariant	NM_001754.5(RUNX1):c.829C>G (p.Pro277Ala)	CA410150272	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2156664	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1328A>G (p.Asn443Ser)	CA410147342	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2834944	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1075C>T (p.Pro359Ser)	CA410148214	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:898914	biolink:SequenceVariant	NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)	CA410204054	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1479269	biolink:SequenceVariant	NM_001754.5(RUNX1):c.848A>C (p.Gln283Pro)	CA410150175	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1025603	biolink:SequenceVariant	NM_001754.5(RUNX1):c.463G>A (p.Val155Ile)	CA410202557	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2099170	biolink:SequenceVariant	NM_001754.5(RUNX1):c.451A>T (p.Met151Leu)	CA410202584	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410202527	biolink:SequenceVariant	NM_001754.5:c.477T>G	CA410202527	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2268033	biolink:SequenceVariant	NM_001754.5(RUNX1):c.548C>T (p.Pro183Leu)	CA410208072	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1547462	biolink:SequenceVariant	NM_001754.5(RUNX1):c.509-11T>A	CA2573157351	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2761026	biolink:SequenceVariant	NM_001754.5(RUNX1):c.59-43688C>G	CA2697547481	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2805962	biolink:SequenceVariant	NM_001754.5(RUNX1):c.1150C>A (p.Pro384Thr)	CA410147949	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2769230	biolink:SequenceVariant	NM_001754.5(RUNX1):c.58+5_58+7del	CA2697547482	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2633656	biolink:SequenceVariant	NM_001754.5(RUNX1):c.509G>A (p.Gly170Glu)	CA410208159	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2443682	biolink:SequenceVariant	NM_001754.5(RUNX1):c.499A>G (p.Ser167Gly)	CA410202486	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2108059	biolink:SequenceVariant	NM_001754.5(RUNX1):c.517T>C (p.Phe173Leu)	CA410208141	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2580053	biolink:SequenceVariant	NM_001754.5(RUNX1):c.454A>C (p.Lys152Gln)	CA410202578	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:3068220	biolink:SequenceVariant	NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)	CA410203693	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2628467	biolink:SequenceVariant	NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)	CA410202645	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2910839	biolink:SequenceVariant	NM_001754.5(RUNX1):c.551C>T (p.Pro184Leu)	CA410208068	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1040026	biolink:SequenceVariant	NM_001754.5(RUNX1):c.493G>A (p.Gly165Ser)	CA320637836	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2126813	biolink:SequenceVariant	NM_001754.5(RUNX1):c.557T>C (p.Val186Ala)	CA410208054	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:409808	biolink:SequenceVariant	NM_001754.5(RUNX1):c.433A>G (p.Arg145Gly)	CA16616277	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1012104	biolink:SequenceVariant	NM_001754.5(RUNX1):c.482T>C (p.Leu161Pro)	CA410202514	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1466051	biolink:SequenceVariant	NM_001754.5(RUNX1):c.581A>C (p.Lys194Thr)	CA410208001	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:856798	biolink:SequenceVariant	NM_001754.5(RUNX1):c.319C>A (p.Arg107Ser)	CA410203493	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1684391	biolink:SequenceVariant	NM_001754.5(RUNX1):c.505A>G (p.Arg169Gly)	CA410202473	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2091067	biolink:SequenceVariant	NM_001754.5(RUNX1):c.466G>A (p.Ala156Thr)	CA410202554	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:1439261	biolink:SequenceVariant	NM_001754.5(RUNX1):c.98-5C>G	CA638054608	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2678492	biolink:SequenceVariant	NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)	CA410206879	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2023119	biolink:SequenceVariant	NM_001754.5(RUNX1):c.613+1G>A	CA410207932	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2767710	biolink:SequenceVariant	NM_001754.5(RUNX1):c.805+1_805+2dup	CA2697547492	HGNC:10471	NCBITaxon:9606	Homo sapiens
CA410148836	biolink:SequenceVariant	NM_001754.5:c.968-2A>G	CA410148836	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:2697219	biolink:SequenceVariant	NM_001754.5(RUNX1):c.59-53465A>T	CA320704233	HGNC:10471	NCBITaxon:9606	Homo sapiens
CLINVAR:440678	biolink:SequenceVariant	NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)	CA038513	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252213	biolink:SequenceVariant	NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro)	CA10585767	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:375833	biolink:SequenceVariant	NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)	CA16602347	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:183132	biolink:SequenceVariant	NM_000527.5(LDLR):c.2126G>A (p.Arg709Lys)	CA023641	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:250960	biolink:SequenceVariant	NM_000527.5(LDLR):c.-36T>G	CA10584714	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:440624	biolink:SequenceVariant	NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)	CA031958	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:523715	biolink:SequenceVariant	NM_000527.5(LDLR):c.1078G>C (p.Asp360His)	CA031936	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251853	biolink:SequenceVariant	NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn)	CA10585463	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251852	biolink:SequenceVariant	NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly)	CA10585462	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252269	biolink:SequenceVariant	NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile)	CA10585816	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:252267	biolink:SequenceVariant	NM_000527.5(LDLR):c.2296A>G (p.Thr766Ala)	CA10585815	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:68099	biolink:SequenceVariant	NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	CA023515	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:251037	biolink:SequenceVariant	NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)	CA041995	HGNC:6547	NCBITaxon:9606	Homo sapiens
CLINVAR:425706	biolink:SequenceVariant	NM_001204.7(BMPR2):c.125A>G (p.Gln42Arg)	CA350399166	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425707	biolink:SequenceVariant	NM_001204.7(BMPR2):c.140G>A (p.Gly47Asp)	CA350399236	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:425906	biolink:SequenceVariant	NM_001204.7(BMPR2):c.1258T>C (p.Cys420Arg)	CA350341977	HGNC:1078	NCBITaxon:9606	Homo sapiens
CLINVAR:933084	biolink:SequenceVariant	NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr)	CA390864677	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:412136	biolink:SequenceVariant	NM_177438.3(DICER1):c.2417C>T (p.Thr806Met)	CA7331249	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:937744	biolink:SequenceVariant	NM_177438.3(DICER1):c.2774A>G (p.Glu925Gly)	CA390879466	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:479637	biolink:SequenceVariant	NM_177438.3(DICER1):c.2455T>C (p.Tyr819His)	CA390881994	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:479642	biolink:SequenceVariant	NM_177438.3(DICER1):c.2051T>C (p.Met684Thr)	CA390883127	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:854954	biolink:SequenceVariant	NM_177438.3(DICER1):c.4357A>G (p.Ile1453Val)	CA265898357	HGNC:17098	NCBITaxon:9606	Homo sapiens
CLINVAR:92270	biolink:SequenceVariant	NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	CA285287	HGNC:92	NCBITaxon:9606	Homo sapiens
CLINVAR:1336989	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile)	CA9870533	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108333	biolink:SequenceVariant	NM_175914.5:c.950T>C	CA409108333	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108330	biolink:SequenceVariant	NM_175914.5:c.949C>G	CA409108330	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108715	biolink:SequenceVariant	NM_175914.5:c.1033G>C	CA409108715	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:1700658	biolink:SequenceVariant	NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)	CA409108716	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:338422	biolink:SequenceVariant	NM_175914.5(HNF4A):c.50-4791_50-4788del	CA10643872	HGNC:5024	NCBITaxon:9606	Homo sapiens
CLINVAR:447519	biolink:SequenceVariant	NM_175914.5(HNF4A):c.670+7C>T	CA9870336	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409108257	biolink:SequenceVariant	NM_175914.5:c.928G>A	CA409108257	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA409107449	biolink:SequenceVariant	NM_175914.5:c.734G>C	CA409107449	HGNC:5024	NCBITaxon:9606	Homo sapiens
CA367400147	biolink:SequenceVariant	NM_033508.3:c.878G>A	CA367400147	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367399714	biolink:SequenceVariant	NM_033508.3:c.1007A>C	CA367399714	HGNC:4195	NCBITaxon:9606	Homo sapiens
CLINVAR:585929	biolink:SequenceVariant	NM_000162.5(GCK):c.952G>A (p.Gly318Arg)	CA367399913	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA2695202957	biolink:SequenceVariant	NM_033508.3:c.449_451del	CA2695202957	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367398584	biolink:SequenceVariant	NM_001354803.2:c.214C>A	CA367398584	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401330	biolink:SequenceVariant	NM_033508.3:c.616G>C	CA367401330	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401332	biolink:SequenceVariant	NM_033508.3:c.616G>A	CA367401332	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA367401327	biolink:SequenceVariant	NM_033508.3:c.617T>A	CA367401327	HGNC:4195	NCBITaxon:9606	Homo sapiens
CA386960233	biolink:SequenceVariant	NM_001306179.2:c.460A>G	CA386960233	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1317657	biolink:SequenceVariant	NM_000545.8(HNF1A):c.461T>C (p.Met154Thr)	CA386960242	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1807441	biolink:SequenceVariant	NM_000545.8(HNF1A):c.461T>G (p.Met154Arg)	CA386960246	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960365	biolink:SequenceVariant	NM_001306179.2:c.472A>G	CA386960365	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:1338456	biolink:SequenceVariant	NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter)	CA386960373	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386960575	biolink:SequenceVariant	NM_001306179.2:c.498C>G	CA386960575	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2580612112	biolink:SequenceVariant	NM_001306179.2:c.497dup	CA2580612112	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA386958912	biolink:SequenceVariant	NM_001306179.2:c.346G>A	CA386958912	HGNC:11621	NCBITaxon:9606	Homo sapiens
CA2580612109	biolink:SequenceVariant	NM_001306179.2:c.363del	CA2580612109	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:586791	biolink:SequenceVariant	NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)	CA386959170	HGNC:11621	NCBITaxon:9606	Homo sapiens
CLINVAR:92301	biolink:SequenceVariant	NM_000023.4(SGCA):c.101G>A (p.Arg34His)	CA199071	HGNC:10805	NCBITaxon:9606	Homo sapiens
CA347215735	biolink:SequenceVariant	NM_003494.4:c.1354-1G>A	CA347215735	HGNC:3097	NCBITaxon:9606	Homo sapiens
CLINVAR:596790	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)	CA8366103	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98582	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2944+1del	CA226109	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98610	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)	CA226155	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:560463	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	CA8366083	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:2137915	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)	CA287530833	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:423435	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys)	CA16620650	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:859216	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)	CA8366036	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:1001416	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)	CA8365977	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:198055	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)	CA246543	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:803314	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)	CA8365854	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98546	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys)	CA226052	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98555	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln)	CA226064	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:974639	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)	CA8366018	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98611	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)	CA226156	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:1445009	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp)	CA8365564	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98584	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)	CA226112	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:974655	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)	CA397955568	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98590	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	CA226122	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98581	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)	CA226107	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98536	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)	CA226036	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:9350	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)	CA226054	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:638494	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)	CA287525681	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98563	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	CA226075	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:866048	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)	CA8366374	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98603	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)	CA226144	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98602	biolink:SequenceVariant	NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	CA226143	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:803313	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)	CA915949552	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98562	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)	CA226074	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA8365937	biolink:SequenceVariant	NM_000180.4:c.1956+1G>A	CA8365937	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA397954516	biolink:SequenceVariant	NM_000180.4:c.2833C>T	CA397954516	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:581095	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.3224+1G>C	CA8366346	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:808220	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg)	CA287523615	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA287523530	biolink:SequenceVariant	NM_000180.4:c.722-1G>T	CA287523530	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:587413	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)	CA287533367	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA397954276	biolink:SequenceVariant	NM_000180.4:c.2765A>G	CA397954276	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA2695224294	biolink:SequenceVariant	NM_000180.4:c.726del	CA2695224294	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA2837582288	biolink:SequenceVariant	NM_000180.4:c.2633_2636del	CA2837582288	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:861651	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)	CA624867876	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98609	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)	CA226154	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:98540	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	CA226043	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:938393	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)	CA287533033	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:689384	biolink:SequenceVariant	NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)	CA397949792	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA2695224281	biolink:SequenceVariant	NM_000180.4:c.82dup	CA2695224281	HGNC:4689	NCBITaxon:9606	Homo sapiens
CA2695224312	biolink:SequenceVariant	NM_000180.4:c.3078_3083dup	CA2695224312	HGNC:4689	NCBITaxon:9606	Homo sapiens
CLINVAR:665724	biolink:SequenceVariant	NM_001130987.2(DYSF):c.5176T>C (p.Ser1726Pro)	CA347220902	HGNC:3097	NCBITaxon:9606	Homo sapiens