Hfe Variant Search Result - Rat Genome Database

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316 records found for search term Hfe

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155645950	CV1709308	single nucleotide variant	NM_000410.4(HFE):c.-4G>A	not provided [RCV002292184]	uncertain significance	6	26087437	26087437	Human		name
28900015	CV895723	single nucleotide variant	NM_000410.4(HFE):c.-7T>C	Hemochromatosis type 1 [RCV001156071]\|Hereditary hemochromatosis [RCV001396115]	likely benign\|uncertain significance	6	26087434	26087434	Human	2	name , alternate_id
28900009	CV895721	single nucleotide variant	NM_000410.3(HFE):c.-96G>C	Hemochromatosis type 1 [RCV001156069]	uncertain significance	6	26087345	26087345	Human	1	name , alternate_id
28900012	CV895722	single nucleotide variant	NM_000410.3(HFE):c.-48C>G	Hemochromatosis type 1 [RCV001156070]	benign	6	26087393	26087393	Human	1	name , alternate_id
28890019	CV895726	single nucleotide variant	NM_000410.4(HFE):c.*61C>T	Hemochromatosis type 1 [RCV001152296]	uncertain significance	6	26094287	26094287	Human	1	name , alternate_id
127331846	CV1137476	single nucleotide variant	NM_000410.4(HFE):c.76+8C>T	Hereditary hemochromatosis [RCV001489091]	likely benign	6	26087524	26087524	Human	1	name
152092043	CV1567712	single nucleotide variant	NM_000410.4(HFE):c.76+9G>T	Hereditary hemochromatosis [RCV002212860]	likely benign	6	26087525	26087525	Human	1	name
152982428	CV1677364	single nucleotide variant	NM_000410.4(HFE):c.76+2T>C	Alzheimer disease type 1 [RCV002249071]\|Hereditary hemochromatosis [RCV003588782]	likely pathogenic	6	26087518	26087518	Human	2	name
156181529	CV2058653	single nucleotide variant	NM_000410.4(HFE):c.76+8C>A	Hereditary hemochromatosis [RCV002828319]	likely benign	6	26087524	26087524	Human	1	name
329353022	CV2476976	single nucleotide variant	NM_000410.4(HFE):c.*170C>G	not provided [RCV003223208]	likely benign	6	26094396	26094396	Human		name
11594491	CV299725	single nucleotide variant	NM_000410.4(HFE):c.*155C>T	Hemochromatosis type 1 [RCV000360021]	uncertain significance	6	26094381	26094381	Human	1	name , alternate_id
11590425	CV299728	single nucleotide variant	NM_000410.4(HFE):c.*578T>C	Hemochromatosis type 1 [RCV000319106]\|not provided [RCV004695922]	uncertain significance	6	26094804	26094804	Human	1	name , alternate_id
11593866	CV299729	single nucleotide variant	NM_000410.4(HFE):c.*625C>T	Hemochromatosis type 1 [RCV000352986]	uncertain significance	6	26094851	26094851	Human	1	name , alternate_id
11582519	CV299735	single nucleotide variant	NM_000410.4(HFE):c.*746G>T	Hemochromatosis type 1 [RCV000260522]	uncertain significance	6	26094972	26094972	Human	1	name , alternate_id
11646924	CV299736	single nucleotide variant	NM_000410.4(HFE):c.*957T>C	Hemochromatosis type 1 [RCV000273638]	uncertain significance	6	26095183	26095183	Human	1	name , alternate_id
11594403	CV302329	single nucleotide variant	NM_000410.4(HFE):c.*417C>T	Hemochromatosis type 1 [RCV000358894]	uncertain significance	6	26094643	26094643	Human	1	name , alternate_id
11644700	CV302330	single nucleotide variant	NM_000410.4(HFE):c.*517A>G	Hemochromatosis type 1 [RCV000261549]	uncertain significance	6	26094743	26094743	Human	1	name , alternate_id
11591641	CV302332	single nucleotide variant	NM_000410.4(HFE):c.*988G>A	Hemochromatosis type 1 [RCV000331107]\|not provided [RCV002512084]	benign\|uncertain significance	6	26095214	26095214	Human	1	name , alternate_id
11596524	CV302333	single nucleotide variant	NM_000410.4(HFE):c.*991C>T	Hemochromatosis type 1 [RCV000383494]\|not provided [RCV002512085]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	26095217	26095217	Human	1	name , alternate_id
11603599	CV306734	single nucleotide variant	NM_000410.4(HFE):c.*301C>A	Hemochromatosis type 1 [RCV000301784]	uncertain significance	6	26094527	26094527	Human	1	name , alternate_id
405109645	CV3069315	single nucleotide variant	NM_000410.4(HFE):c.77-5T>C	Hereditary hemochromatosis [RCV003751309]	likely benign	6	26090836	26090836	Human	1	name
11611896	CV307017	single nucleotide variant	NM_000410.4(HFE):c.*296A>T	Hemochromatosis type 1 [RCV000401102]\|not provided [RCV004695921]	uncertain significance	6	26094522	26094522	Human	1	name , alternate_id
11606487	CV307028	single nucleotide variant	NM_000410.4(HFE):c.*801T>C	Hemochromatosis type 1 [RCV000332331]\|not provided [RCV004695923]	uncertain significance	6	26095027	26095027	Human	1	name , alternate_id
11611052	CV307029	single nucleotide variant	NM_000410.4(HFE):c.*871C>T	Hemochromatosis type 1 [RCV000389174]\|not provided [RCV004695924]	uncertain significance	6	26095097	26095097	Human	1	name , alternate_id
28890023	CV895727	single nucleotide variant	NM_000410.4(HFE):c.*120C>T	Hemochromatosis type 1 [RCV001152297]	uncertain significance	6	26094346	26094346	Human	1	name , alternate_id
28890026	CV895728	single nucleotide variant	NM_000410.4(HFE):c.*198C>T	Hemochromatosis type 1 [RCV001152298]\|Variegate porphyria [RCV002505729]	uncertain significance	6	26094424	26094424	Human	2	name , alternate_id
28890030	CV895729	single nucleotide variant	NM_000410.4(HFE):c.*199G>A	Hemochromatosis type 1 [RCV001152299]\|not provided [RCV004694955]	uncertain significance	6	26094425	26094425	Human	1	name , alternate_id
28893521	CV895730	single nucleotide variant	NM_000410.4(HFE):c.*281C>T	Hemochromatosis type 1 [RCV001153574]	uncertain significance	6	26094507	26094507	Human	1	name , alternate_id
28893525	CV895731	single nucleotide variant	NM_000410.4(HFE):c.*403T>C	Hemochromatosis type 1 [RCV001153575]\|not provided [RCV004694963]	uncertain significance	6	26094629	26094629	Human	1	name , alternate_id
28893528	CV895732	single nucleotide variant	NM_000410.4(HFE):c.*426T>C	Hemochromatosis type 1 [RCV001153576]	uncertain significance	6	26094652	26094652	Human	1	name , alternate_id
28893531	CV895733	single nucleotide variant	NM_000410.4(HFE):c.*459C>T	Hemochromatosis type 1 [RCV001153577]\|not provided [RCV004694964]	uncertain significance	6	26094685	26094685	Human	1	name , alternate_id
28900288	CV895734	single nucleotide variant	NM_000410.4(HFE):c.*603C>T	Hemochromatosis type 1 [RCV001156192]\|Variegate porphyria [RCV002491453]\|not provided [RCV004694992]	uncertain significance	6	26094829	26094829	Human	2	name , alternate_id
28900292	CV895735	single nucleotide variant	NM_000410.4(HFE):c.*744G>C	Hemochromatosis type 1 [RCV001156193]	uncertain significance	6	26094970	26094970	Human	1	name , alternate_id
28900294	CV895736	single nucleotide variant	NM_000410.4(HFE):c.*838T>C	Hemochromatosis type 1 [RCV001156194]	uncertain significance	6	26095064	26095064	Human	1	name , alternate_id
28904116	CV895737	single nucleotide variant	NM_000410.4(HFE):c.*918A>G	Hemochromatosis type 1 [RCV001157863]	uncertain significance	6	26095144	26095144	Human	1	name , alternate_id
150539404	CV1308765	single nucleotide variant	NM_000410.4(HFE):c.616+4T>C	not provided [RCV001766269]	likely benign	6	26091593	26091593	Human		name
8659716	CV134671	single nucleotide variant	NM_000410.4(HFE):c.340+4T>C	Hemochromatosis type 1 [RCV001095120]\|Hereditary hemochromatosis [RCV000348920]\|not provided [RCV000860091]\|not specified [RCV000117221]	benign\|likely benign\|conflicting interpretations of pathogenicity	6	26091108	26091108	Human	11	name , alternate_id
152069194	CV1589157	single nucleotide variant	NM_000410.4(HFE):c.76+11G>A	Hereditary hemochromatosis [RCV002209757]	likely benign	6	26087527	26087527	Human	1	name
152135027	CV1613475	single nucleotide variant	NM_000410.4(HFE):c.892+7G>A	Hereditary hemochromatosis [RCV002156024]	likely benign	6	26092967	26092967	Human	1	name
152038169	CV1669231	single nucleotide variant	NM_000410.4(HFE):c.340+1G>C	not provided [RCV002224283]	likely pathogenic	6	26091105	26091105	Human		name
156413504	CV1887976	single nucleotide variant	NM_000410.4(HFE):c.893-8T>C	Hereditary hemochromatosis [RCV003073316]	likely benign	6	26093111	26093111	Human	1	name
156233953	CV2108742	single nucleotide variant	NM_000410.4(HFE):c.616+1G>T	Hereditary hemochromatosis [RCV002932944]	pathogenic	6	26091590	26091590	Human	1	name
156104881	CV2139846	single nucleotide variant	NM_000410.4(HFE):c.76+15T>G	Hereditary hemochromatosis [RCV003002356]	likely benign	6	26087531	26087531	Human	1	name
401795707	CV2739989	single nucleotide variant	NM_000410.4(HFE):c.340+1G>A	Hemochromatosis type 1 [RCV003319951]	likely pathogenic	6	26091105	26091105	Human	1	name , alternate_id
405188301	CV2860884	single nucleotide variant	NM_000410.4(HFE):c.76+12G>A	Hereditary hemochromatosis [RCV003589528]	likely benign	6	26087528	26087528	Human	1	name
405178208	CV2890149	single nucleotide variant	NM_000410.4(HFE):c.76+13G>A	Hereditary hemochromatosis [RCV003588343]	likely benign	6	26087529	26087529	Human	1	name
405180157	CV2899503	single nucleotide variant	NM_000410.4(HFE):c.341-4C>G	Hereditary hemochromatosis [RCV003588545]	likely benign	6	26091310	26091310	Human	1	name
405112676	CV2984246	single nucleotide variant	NM_000410.4(HFE):c.76+20G>A	Hereditary hemochromatosis [RCV003751833]	likely benign	6	26087536	26087536	Human	1	name
405111202	CV3072301	single nucleotide variant	NM_000410.4(HFE):c.616+9G>T	Hereditary hemochromatosis [RCV003751587]	likely benign	6	26091598	26091598	Human	1	name
405111317	CV3080933	single nucleotide variant	NM_000410.4(HFE):c.76+17C>T	Hereditary hemochromatosis [RCV003751606]	likely benign	6	26087533	26087533	Human	1	name
405225153	CV3158915	single nucleotide variant	NM_000410.4(HFE):c.893-1G>C	Hereditary hemochromatosis [RCV003864217]	likely pathogenic	6	26093118	26093118	Human	1	name
405241192	CV3176894	single nucleotide variant	NM_000410.4(HFE):c.76+20G>C	Hereditary hemochromatosis [RCV003867332]	likely benign	6	26087536	26087536	Human	1	name
405726298	CV3235154	single nucleotide variant	NM_000410.4(HFE):c.616+1G>A	Juvenile hemochromatosis [RCV004018185]	likely pathogenic	6	26091590	26091590	Human	1	name
597746543	CV3725297	single nucleotide variant	NM_000410.4(HFE):c.340+1G>T	Hemochromatosis type 1 [RCV005039636]	likely pathogenic	6	26091105	26091105	Human	1	name , alternate_id
597864154	CV3742173	single nucleotide variant	NM_000410.4(HFE):c.340+8G>C	Hereditary hemochromatosis [RCV005067789]	likely benign	6	26091112	26091112	Human	1	name
13620231	CV522221	single nucleotide variant	NM_000410.4(HFE):c.616+6G>A	Hereditary hemochromatosis [RCV000636249]\|not provided [RCV003326480]	likely benign\|uncertain significance	6	26091595	26091595	Human	1	name
26898424	CV851322	single nucleotide variant	NM_000410.4(HFE):c.341-1G>A	Hereditary hemochromatosis [RCV001048895]	likely pathogenic	6	26091313	26091313	Human	1	name
38490466	CV940841	single nucleotide variant	NM_000410.4(HFE):c.892+1G>T	Hereditary hemochromatosis [RCV001222163]	likely pathogenic	6	26092961	26092961	Human	1	name
127237399	CV1053984	single nucleotide variant	NM_000410.4(HFE):c.1006+1G>A	Hemochromatosis type 1 [RCV001376186]\|Hereditary hemochromatosis [RCV002550228]\|Variegate porphyria [RCV002493912]\|not provided [RCV003145645]	pathogenic\|likely pathogenic	6	26093233	26093233	Human	3	name , alternate_id
127302886	CV1116539	single nucleotide variant	NM_000410.4(HFE):c.1007-5C>T	Hereditary hemochromatosis [RCV001461797]	likely benign	6	26094181	26094181	Human	1	name
150421181	CV1180145	single nucleotide variant	NM_000410.4(HFE):c.893-50G>A	not provided [RCV001551894]	likely benign	6	26093069	26093069	Human		name
150513993	CV1228002	single nucleotide variant	NM_000410.4(HFE):c.893-44T>C	not provided [RCV001638280]	benign	6	26093075	26093075	Human		name
150509909	CV1248419	single nucleotide variant	NM_000410.4(HFE):c.892+16G>C	Hereditary hemochromatosis [RCV002538587]\|not provided [RCV001659487]	benign	6	26092976	26092976	Human	1	name
150451372	CV1254818	single nucleotide variant	NM_000410.4(HFE):c.76+112T>A	not provided [RCV001667877]	benign	6	26087628	26087628	Human		name
150498443	CV1282016	single nucleotide variant	NM_000410.4(HFE):c.617-48C>G	not provided [RCV001718020]	benign	6	26092637	26092637	Human		name
8555374	CV15053	single nucleotide variant	NM_000410.4(HFE):c.892+48G>A	HFE INTRONIC POLYMORPHISM [RCV000000031]\|not provided [RCV001618204]	benign	6	26093008	26093008	Human	1	name , trait
152072228	CV1551604	single nucleotide variant	NM_000410.4(HFE):c.1006+9G>A	Hereditary hemochromatosis [RCV002075260]	likely benign	6	26093241	26093241	Human	1	name
156330651	CV1884365	single nucleotide variant	NM_000410.4(HFE):c.340+12G>A	Hereditary hemochromatosis [RCV003089774]	likely benign	6	26091116	26091116	Human	1	name
155940354	CV2068055	single nucleotide variant	NM_000410.4(HFE):c.341-12G>A	Hereditary hemochromatosis [RCV002839363]	uncertain significance	6	26091302	26091302	Human	1	name
405188681	CV2865640	single nucleotide variant	NM_000410.4(HFE):c.616+18T>G	Hereditary hemochromatosis [RCV003589685]	likely benign	6	26091607	26091607	Human	1	name
405177786	CV2886815	single nucleotide variant	NM_000410.4(HFE):c.341-11G>A	Hereditary hemochromatosis [RCV003588297]	likely benign	6	26091303	26091303	Human	1	name
405178482	CV2887423	single nucleotide variant	NM_000410.4(HFE):c.617-11T>C	Hereditary hemochromatosis [RCV003588370]	likely benign	6	26092674	26092674	Human	1	name
405113390	CV2989670	deletion	NM_000410.4(HFE):c.1006+9del	Hereditary hemochromatosis [RCV003751961]	likely benign	6	26093240	26093240	Human	1	name
405106501	CV3044471	single nucleotide variant	NM_000410.4(HFE):c.341-17G>C	Hereditary hemochromatosis [RCV003750534]	likely benign	6	26091297	26091297	Human	1	name
405106089	CV3047315	single nucleotide variant	NM_000410.4(HFE):c.616+13C>T	Hereditary hemochromatosis [RCV003750500]	likely benign	6	26091602	26091602	Human	1	name
405113662	CV3118787	single nucleotide variant	NM_000410.4(HFE):c.340+19T>C	Hereditary hemochromatosis [RCV003814015]	likely benign	6	26091123	26091123	Human	1	name
405046682	CV3154581	single nucleotide variant	NM_000410.4(HFE):c.616+15C>T	Hereditary hemochromatosis [RCV003849257]	likely benign	6	26091604	26091604	Human	1	name
405196752	CV3168185	single nucleotide variant	NM_000410.4(HFE):c.1007-8C>T	Hereditary hemochromatosis [RCV003860317]	likely benign	6	26094178	26094178	Human	1	name
597929578	CV3816274	single nucleotide variant	NM_000410.4(HFE):c.892+18G>A	Hereditary hemochromatosis [RCV005156855]	likely benign	6	26092978	26092978	Human	1	name
597914587	CV3851129	single nucleotide variant	NM_000410.4(HFE):c.893-18T>C	Hereditary hemochromatosis [RCV005204097]	likely benign	6	26093101	26093101	Human	1	name
127290400	CV1155315	single nucleotide variant	NM_000410.4(HFE):c.1007-47G>A	Hemochromatosis type 1 [RCV003127983]\|Hereditary hemochromatosis [RCV001509815]\|not provided [RCV001647302]	benign	6	26094139	26094139	Human	3	name , alternate_id
127290400	CV1155315	single nucleotide variant	NM_000410.4(HFE):c.1007-47G>A	Hemochromatosis type 1 [RCV003127983]\|Hereditary hemochromatosis [RCV001509815]\|not provided [RCV001647302]	benign	6	26094139	26094140	Human	3	name , alternate_id
150454740	CV1277058	single nucleotide variant	NM_000410.4(HFE):c.617-296A>C	not provided [RCV001708849]	benign	6	26092389	26092389	Human		name
405108825	CV2950727	deletion	NM_000410.4(HFE):c.1006+19del	Hereditary hemochromatosis [RCV003751149]	benign	6	26093247	26093247	Human	1	name
405090209	CV3118467	single nucleotide variant	NM_000410.4(HFE):c.1006+17G>A	Hereditary hemochromatosis [RCV003811109]	likely benign	6	26093249	26093249	Human	1	name
28890012	CV896216	single nucleotide variant	NM_000410.4(HFE):c.1006+14A>G	Hemochromatosis type 1 [RCV001152294]\|Hereditary hemochromatosis [RCV002070847]	likely benign\|uncertain significance	6	26093246	26093246	Human	2	name , alternate_id
150340239	CV1168074	single nucleotide variant	NM_000410.4(HFE):c.1007-284T>C	not provided [RCV001535145]	likely benign	6	26093902	26093902	Human		name
150450315	CV1205259	deletion	NM_000410.4(HFE):c.1007-205del	not provided [RCV001585159]	likely benign	6	26093980	26093980	Human		name
127304709	CV1137475	single nucleotide variant	NM_000410.4(HFE):c.6C>T (p.Gly2=)	Hereditary hemochromatosis [RCV001499714]	likely benign	6	26087446	26087446	Human	1	name
401867364	CV2748891	deletion	NM_000410.4(HFE):c.617-8_617-4del	not specified [RCV003331713]	uncertain significance	6	26092675	26092679	Human		name
597902575	CV3851466	duplication	NM_000410.4(HFE):c.77-16_77-11dup	Hereditary hemochromatosis [RCV005202243]	likely benign	6	26090822	26090823	Human	1	name
156376914	CV1896185	single nucleotide variant	NM_000410.4(HFE):c.24G>C (p.Ala8=)	Hereditary hemochromatosis [RCV003092950]	likely benign	6	26087464	26087464	Human	1	name
597890551	CV3784866	single nucleotide variant	NM_000410.4(HFE):c.27T>A (p.Leu9=)	Hereditary hemochromatosis [RCV005125645]	likely benign	6	26087467	26087467	Human	1	name
12883356	CV395087	single nucleotide variant	NM_000410.4(HFE):c.21G>A (p.Pro7=)	HFE-related disorder [RCV004535453]\|Hemochromatosis type 1 [RCV001156072]\|Hereditary hemochromatosis [RCV000461454]\|not provided [RCV001591118]	benign\|likely benign\|uncertain significance	6	26087461	26087461	Human	2	name , trait , alternate_id
127275455	CV1094986	single nucleotide variant	NM_000410.4(HFE):c.84C>T (p.His28=)	Hereditary hemochromatosis [RCV001432358]	likely benign	6	26090848	26090848	Human	1	name
127332918	CV1116531	single nucleotide variant	NM_000410.4(HFE):c.57C>T (p.Val19=)	Hereditary hemochromatosis [RCV001472574]	likely benign	6	26087497	26087497	Human	1	name
127289781	CV1137477	single nucleotide variant	NM_000410.4(HFE):c.87T>C (p.Ser29=)	Hereditary hemochromatosis [RCV001495752]	likely benign	6	26090851	26090851	Human	1	name
156086760	CV1989448	single nucleotide variant	NM_000410.4(HFE):c.43T>C (p.Leu15=)	Hereditary hemochromatosis [RCV002639080]	likely benign	6	26087483	26087483	Human	1	name
156312971	CV2007072	single nucleotide variant	NM_000410.4(HFE):c.54G>A (p.Ala18=)	Hereditary hemochromatosis [RCV002671738]	likely benign	6	26087494	26087494	Human	1	name
156286478	CV2067833	single nucleotide variant	NM_000410.4(HFE):c.36G>C (p.Leu12=)	Hereditary hemochromatosis [RCV002856572]	likely benign	6	26087476	26087476	Human	1	name
405111293	CV3080828	single nucleotide variant	NM_000410.4(HFE):c.99C>T (p.Leu33=)	Hereditary hemochromatosis [RCV003751602]	likely benign	6	26090863	26090863	Human	1	name
405080092	CV3137152	single nucleotide variant	NM_000410.4(HFE):c.54G>C (p.Ala18=)	Hereditary hemochromatosis [RCV003834051]	likely benign	6	26087494	26087494	Human	1	name
15129272	CV683773	single nucleotide variant	NM_000410.4(HFE):c.51C>T (p.Thr17=)	Hereditary hemochromatosis [RCV001494674]	likely benign	6	26087491	26087491	Human	1	name
15140736	CV686818	single nucleotide variant	NM_000410.4(HFE):c.88C>T (p.Leu30=)	Hereditary hemochromatosis [RCV001413009]	likely benign	6	26090852	26090852	Human	1	name
127332770	CV1116532	single nucleotide variant	NM_000410.4(HFE):c.141T>C (p.Phe47=)	Hereditary hemochromatosis [RCV001472477]	likely benign	6	26090905	26090905	Human	1	name
127304342	CV1137478	single nucleotide variant	NM_000410.4(HFE):c.174C>T (p.Phe58=)	Hereditary hemochromatosis [RCV001479459]	likely benign	6	26090938	26090938	Human	1	name
150426508	CV1187052	single nucleotide variant	NM_000410.4(HFE):c.171G>C (p.Leu57=)	Hereditary hemochromatosis [RCV002568392]\|not provided [RCV001559665]	likely benign	6	26090935	26090935	Human	1	name
150535246	CV1307007	single nucleotide variant	NM_000410.4(HFE):c.20C>G (p.Pro7Arg)	Hereditary hemochromatosis [RCV005057604]\|not provided [RCV001759061]	uncertain significance	6	26087460	26087460	Human	1	name
152083692	CV1576871	single nucleotide variant	NM_000410.4(HFE):c.192G>A (p.Glu64=)	Hereditary hemochromatosis [RCV002193353]	likely benign	6	26090956	26090956	Human	1	name
152128472	CV1596554	single nucleotide variant	NM_000410.4(HFE):c.156C>T (p.Tyr52=)	Hereditary hemochromatosis [RCV002118762]	likely benign	6	26090920	26090920	Human	1	name
152157577	CV1629905	single nucleotide variant	NM_000410.4(HFE):c.136T>C (p.Leu46=)	Hereditary hemochromatosis [RCV002202859]	likely benign	6	26090900	26090900	Human	1	name
152094215	CV1634455	single nucleotide variant	NM_000410.4(HFE):c.165C>T (p.Asp55=)	Hereditary hemochromatosis [RCV002213142]	likely benign	6	26090929	26090929	Human	1	name
152054092	CV1665377	single nucleotide variant	NM_000410.4(HFE):c.228C>T (p.Ser76=)	Hereditary hemochromatosis [RCV002089501]	likely benign	6	26090992	26090992	Human	1	name
155941730	CV2119904	single nucleotide variant	NM_000410.4(HFE):c.23C>T (p.Ala8Val)	Hereditary hemochromatosis [RCV002971329]	uncertain significance	6	26087463	26087463	Human	1	name
10405947	CV212520	single nucleotide variant	NM_000410.4(HFE):c.18G>C (p.Arg6Ser)	HFE-related disorder [RCV004737315]\|Hemochromatosis type 1 [RCV000199898]\|Hereditary hemochromatosis [RCV000684802]\|Variegate porphyria [RCV002485319]\|not provided [RCV000329080]\|not specified [RCV005055713]	uncertain significance	6	26087458	26087458	Human	6	name , trait , alternate_id
156163912	CV2159128	single nucleotide variant	NM_000410.4(HFE):c.201T>C (p.Arg67=)	Hereditary hemochromatosis [RCV003023293]	likely benign	6	26090965	26090965	Human	1	name
10767419	CV221629	single nucleotide variant	NM_000410.4(HFE):c.189T>C (p.His63=)	Hemochromatosis type 1 [RCV001157773]\|Hereditary hemochromatosis [RCV000204683]\|Inborn genetic diseases [RCV003258698]\|not provided [RCV004706661]	benign\|likely benign	6	26090953	26090953	Human	3	name , alternate_id
405197315	CV2869825	single nucleotide variant	NM_000410.4(HFE):c.279G>C (p.Gly93=)	Hereditary hemochromatosis [RCV003590706]	likely benign	6	26091043	26091043	Human	1	name
405113150	CV2988783	single nucleotide variant	NM_000410.4(HFE):c.123C>T (p.Asp41=)	Hereditary hemochromatosis [RCV003751921]	likely benign	6	26090887	26090887	Human	1	name
405235902	CV3168935	single nucleotide variant	NM_000410.4(HFE):c.129T>G (p.Gly43=)	Hereditary hemochromatosis [RCV003866214]	likely benign	6	26090893	26090893	Human	1	name
405289083	CV3193984	single nucleotide variant	NM_000410.4(HFE):c.17G>C (p.Arg6Thr)	HFE-related disorder [RCV004544165]	uncertain significance	6	26087457	26087457	Human		name , trait , alternate_id
597865059	CV3861156	single nucleotide variant	NM_000410.4(HFE):c.279G>A (p.Gly93=)	Hereditary hemochromatosis [RCV005196504]	likely benign	6	26091043	26091043	Human	1	name
127231561	CV1073407	single nucleotide variant	NM_000410.4(HFE):c.696C>T (p.Pro232=)	Hereditary hemochromatosis [RCV001395373]	likely benign	6	26092764	26092764	Human	1	name
127234172	CV1094987	single nucleotide variant	NM_000410.4(HFE):c.747G>A (p.Lys249=)	Hereditary hemochromatosis [RCV001421982]	likely benign	6	26092815	26092815	Human	1	name
127293348	CV1116533	single nucleotide variant	NM_000410.4(HFE):c.363C>T (p.Ile121=)	Hereditary hemochromatosis [RCV001451966]	likely benign	6	26091336	26091336	Human	1	name
127293668	CV1116534	single nucleotide variant	NM_000410.4(HFE):c.699G>A (p.Gln233=)	Hereditary hemochromatosis [RCV001459273]	likely benign	6	26092767	26092767	Human	1	name
127292053	CV1116535	single nucleotide variant	NM_000410.4(HFE):c.798C>A (p.Gly266=)	Hereditary hemochromatosis [RCV001458888]	likely benign	6	26092866	26092866	Human	1	name
127299180	CV1116536	single nucleotide variant	NM_000410.4(HFE):c.849G>A (p.Gln283=)	Hereditary hemochromatosis [RCV001478079]	likely benign	6	26092917	26092917	Human	1	name
127293302	CV1116537	single nucleotide variant	NM_000410.4(HFE):c.903G>A (p.Pro301=)	Hereditary hemochromatosis [RCV001451948]	likely benign	6	26093129	26093129	Human	1	name
127313191	CV1116538	single nucleotide variant	NM_000410.4(HFE):c.903G>T (p.Pro301=)	Hereditary hemochromatosis [RCV001464628]	likely benign	6	26093129	26093129	Human	1	name
127335742	CV1137479	single nucleotide variant	NM_000410.4(HFE):c.537C>T (p.Asn179=)	Hereditary hemochromatosis [RCV001491697]	likely benign	6	26091510	26091510	Human	1	name
127325076	CV1137480	single nucleotide variant	NM_000410.4(HFE):c.660G>A (p.Val220=)	Hereditary hemochromatosis [RCV001485683]	likely benign	6	26092728	26092728	Human	1	name
150333122	CV1164283	single nucleotide variant	NM_000410.4(HFE):c.88C>A (p.Leu30Met)	not provided [RCV001528692]	uncertain significance	6	26090852	26090852	Human		name
151886352	CV1441471	deletion	NM_000410.4(HFE):c.279del (p.Trp94fs)	Hereditary hemochromatosis [RCV001942148]	pathogenic	6	26091041	26091041	Human	1	name
152140867	CV1520435	single nucleotide variant	NM_000410.4(HFE):c.769T>C (p.Leu257=)	Hereditary hemochromatosis [RCV002178040]	likely benign	6	26092837	26092837	Human	1	name
152083059	CV1525260	single nucleotide variant	NM_000410.4(HFE):c.714G>A (p.Lys238=)	Hereditary hemochromatosis [RCV002131069]	likely benign	6	26092782	26092782	Human	1	name
152097747	CV1534350	single nucleotide variant	NM_000410.4(HFE):c.708C>T (p.Thr236=)	Hereditary hemochromatosis [RCV002095084]	likely benign	6	26092776	26092776	Human	1	name
152092877	CV1571353	single nucleotide variant	NM_000410.4(HFE):c.720G>C (p.Leu240=)	Hereditary hemochromatosis [RCV002150817]	likely benign	6	26092788	26092788	Human	1	name
152137819	CV1580487	single nucleotide variant	NM_000410.4(HFE):c.765C>T (p.Asp255=)	Hereditary hemochromatosis [RCV002156365]	likely benign	6	26092833	26092833	Human	1	name
152133917	CV1582972	single nucleotide variant	NM_000410.4(HFE):c.513G>A (p.Arg171=)	Hereditary hemochromatosis [RCV002099851]	likely benign	6	26091486	26091486	Human	1	name
152064888	CV1583285	single nucleotide variant	NM_000410.4(HFE):c.528C>G (p.Ala176=)	HFE-related disorder [RCV004531452]\|Hereditary hemochromatosis [RCV002110638]	likely benign	6	26091501	26091501	Human	2	name , trait , alternate_id
152175266	CV1586285	single nucleotide variant	NM_000410.4(HFE):c.792C>T (p.Tyr264=)	Hereditary hemochromatosis [RCV002184810]	likely benign	6	26092860	26092860	Human	1	name
152082445	CV1589581	single nucleotide variant	NM_000410.4(HFE):c.894G>A (p.Glu298=)	Hereditary hemochromatosis [RCV002112937]\|not provided [RCV004706342]	likely benign	6	26093120	26093120	Human	1	name
152168926	CV1598327	single nucleotide variant	NM_000410.4(HFE):c.843G>A (p.Thr281=)	Hereditary hemochromatosis [RCV002142615]	likely benign	6	26092911	26092911	Human	1	name
152076912	CV1607102	single nucleotide variant	NM_000410.4(HFE):c.588G>A (p.Glu196=)	Hereditary hemochromatosis [RCV002130344]	likely benign	6	26091561	26091561	Human	1	name
152063194	CV1612039	single nucleotide variant	NM_000410.4(HFE):c.352C>T (p.Leu118=)	Hereditary hemochromatosis [RCV002128601]	likely benign	6	26091325	26091325	Human	1	name
152082120	CV1612366	single nucleotide variant	NM_000410.4(HFE):c.457C>T (p.Leu153=)	Hereditary hemochromatosis [RCV002130952]	likely benign	6	26091430	26091430	Human	1	name
152147660	CV1647342	single nucleotide variant	NM_000410.4(HFE):c.840T>C (p.Tyr280=)	Hereditary hemochromatosis [RCV002201477]	likely benign	6	26092908	26092908	Human	1	name
152115947	CV1662455	single nucleotide variant	NM_000410.4(HFE):c.913C>T (p.Leu305=)	Hereditary hemochromatosis [RCV002097485]	likely benign	6	26093139	26093139	Human	1	name
156402078	CV1889265	single nucleotide variant	NM_000410.4(HFE):c.525G>A (p.Arg175=)	Hereditary hemochromatosis [RCV003069250]	likely benign	6	26091498	26091498	Human	1	name
156357758	CV1914003	single nucleotide variant	NM_000410.4(HFE):c.780G>A (p.Gly260=)	Hereditary hemochromatosis [RCV002632459]	likely benign	6	26092848	26092848	Human	1	name
156418064	CV1914373	single nucleotide variant	NM_000410.4(HFE):c.759T>A (p.Pro253=)	Hereditary hemochromatosis [RCV002611239]	likely benign	6	26092827	26092827	Human	1	name
155959989	CV1936477	single nucleotide variant	NM_000410.4(HFE):c.573G>C (p.Leu191=)	not provided [RCV002512293]	likely benign	6	26091546	26091546	Human		name
156245092	CV1996529	single nucleotide variant	NM_000410.4(HFE):c.417G>C (p.Gly139=)	Hereditary hemochromatosis [RCV002668062]	likely benign	6	26091390	26091390	Human	1	name
156245638	CV1996555	single nucleotide variant	NM_000410.4(HFE):c.720G>A (p.Leu240=)	Hereditary hemochromatosis [RCV002668082]	likely benign	6	26092788	26092788	Human	1	name
155974201	CV2021969	single nucleotide variant	NM_000410.4(HFE):c.396C>G (p.Thr132=)	Hereditary hemochromatosis [RCV002755029]	likely benign	6	26091369	26091369	Human	1	name
156238309	CV2031802	single nucleotide variant	NM_000410.4(HFE):c.726T>C (p.Asp242=)	Hereditary hemochromatosis [RCV002745574]	likely benign	6	26092794	26092794	Human	1	name
155956556	CV2070100	single nucleotide variant	NM_000410.4(HFE):c.744C>A (p.Ala248=)	Hereditary hemochromatosis [RCV002816546]	likely benign	6	26092812	26092812	Human	1	name
155948615	CV2087839	single nucleotide variant	NM_000410.4(HFE):c.525G>C (p.Arg175=)	Hereditary hemochromatosis [RCV002880371]	likely benign	6	26091498	26091498	Human	1	name
156190293	CV2175147	single nucleotide variant	NM_000410.4(HFE):c.582G>A (p.Leu194=)	Hereditary hemochromatosis [RCV003057810]	likely benign	6	26091555	26091555	Human	1	name
401920380	CV2822768	single nucleotide variant	NM_000410.4(HFE):c.579G>A (p.Gln193=)	not provided [RCV003431682]	likely benign	6	26091552	26091552	Human		name
405197562	CV2873483	single nucleotide variant	NM_000410.4(HFE):c.492C>T (p.Pro164=)	Hereditary hemochromatosis [RCV003590768]	likely benign	6	26091465	26091465	Human	1	name
405179029	CV2897838	single nucleotide variant	NM_000410.4(HFE):c.486C>G (p.Ala162=)	Hereditary hemochromatosis [RCV003588429]	likely benign	6	26091459	26091459	Human	1	name
405183953	CV2900092	single nucleotide variant	NM_000410.4(HFE):c.861A>G (p.Pro287=)	Hereditary hemochromatosis [RCV003589127]	likely benign	6	26092929	26092929	Human	1	name
405108461	CV2941952	single nucleotide variant	NM_000410.4(HFE):c.604T>C (p.Leu202=)	Hereditary hemochromatosis [RCV003751072]	likely benign	6	26091577	26091577	Human	1	name
405108365	CV2944786	single nucleotide variant	NM_000410.4(HFE):c.432C>T (p.Asp144=)	Hereditary hemochromatosis [RCV003751051]	likely benign	6	26091405	26091405	Human	1	name
405112950	CV2981374	single nucleotide variant	NM_000410.4(HFE):c.693C>T (p.Tyr231=)	Hereditary hemochromatosis [RCV003751887]	likely benign	6	26092761	26092761	Human	1	name
405113567	CV2983816	single nucleotide variant	NM_000410.4(HFE):c.663C>A (p.Thr221=)	Hereditary hemochromatosis [RCV003751991]	likely benign	6	26092731	26092731	Human	1	name
405114681	CV2992166	single nucleotide variant	NM_000410.4(HFE):c.585G>A (p.Leu195=)	Hereditary hemochromatosis [RCV003752086]	likely benign	6	26091558	26091558	Human	1	name
11587608	CV299721	single nucleotide variant	NM_000410.4(HFE):c.68G>A (p.Arg23His)	Hemochromatosis type 1 [RCV001095119]\|Hereditary hemochromatosis [RCV000296289]\|not provided [RCV001565567]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	26087508	26087508	Human	2	name , alternate_id
405116737	CV3022244	single nucleotide variant	NM_000410.4(HFE):c.667C>T (p.Leu223=)	Hereditary hemochromatosis [RCV003752467]	likely benign	6	26092735	26092735	Human	1	name
405109690	CV3065797	single nucleotide variant	NM_000410.4(HFE):c.951C>T (p.Val317=)	Hereditary hemochromatosis [RCV003751317]	likely benign	6	26093177	26093177	Human	1	name
405109765	CV3068893	single nucleotide variant	NM_000410.4(HFE):c.819C>T (p.Pro273=)	Hereditary hemochromatosis [RCV003751275]	likely benign	6	26092887	26092887	Human	1	name
405110128	CV3070464	single nucleotide variant	NM_000410.4(HFE):c.675T>C (p.Cys225=)	Hereditary hemochromatosis [RCV003751399]	likely benign	6	26092743	26092743	Human	1	name
405193248	CV3128469	single nucleotide variant	NM_000410.4(HFE):c.912C>G (p.Thr304=)	Hereditary hemochromatosis [RCV003821206]	likely benign	6	26093138	26093138	Human	1	name
405028124	CV3129808	single nucleotide variant	NM_000410.4(HFE):c.669A>G (p.Leu223=)	Hereditary hemochromatosis [RCV003830406]	likely benign	6	26092737	26092737	Human	1	name
405111514	CV3137309	single nucleotide variant	NM_000410.4(HFE):c.957C>T (p.Ile319=)	Hereditary hemochromatosis [RCV003836272]	likely benign	6	26093183	26093183	Human	1	name
402497131	CV3179296	single nucleotide variant	NM_000410.4(HFE):c.876C>T (p.Pro292=)	Hereditary hemochromatosis [RCV003877563]	likely benign	6	26092944	26092944	Human	1	name
405261336	CV3186168	single nucleotide variant	NM_000410.4(HFE):c.580T>C (p.Leu194=)	not provided [RCV003885244]	likely benign	6	26091553	26091553	Human		name
407427715	CV3412014	single nucleotide variant	NM_000410.4(HFE):c.68G>T (p.Arg23Leu)	not provided [RCV004592185]	uncertain significance	6	26087508	26087508	Human		name
13496813	CV455484	single nucleotide variant	NM_000410.4(HFE):c.50C>T (p.Thr17Ile)	HFE-related disorder [RCV004737805]\|Hemochromatosis type 1 [RCV001157772]\|Hereditary hemochromatosis [RCV000538099]\|not provided [RCV000998545]	likely benign\|uncertain significance	6	26087490	26087490	Human	2	name , trait , alternate_id
13468959	CV456096	single nucleotide variant	NM_000410.4(HFE):c.396C>T (p.Thr132=)	Hereditary hemochromatosis [RCV000544826]	likely benign	6	26091369	26091369	Human	1	name
15130793	CV683774	single nucleotide variant	NM_000410.4(HFE):c.414C>T (p.Tyr138=)	Hereditary hemochromatosis [RCV001478500]	likely benign	6	26091387	26091387	Human	1	name
15156012	CV686819	single nucleotide variant	NM_000410.4(HFE):c.636G>C (p.Val212=)	Hereditary hemochromatosis [RCV001470956]	likely benign	6	26092704	26092704	Human	1	name
15160952	CV686820	single nucleotide variant	NM_000410.4(HFE):c.753C>T (p.Phe251=)	Hereditary hemochromatosis [RCV001478095]\|not provided [RCV003424403]	likely benign	6	26092821	26092821	Human	1	name
15126877	CV691974	single nucleotide variant	NM_000410.4(HFE):c.504G>A (p.Glu168=)	Hereditary hemochromatosis [RCV001416560]	likely benign	6	26091477	26091477	Human	1	name
15128223	CV691975	single nucleotide variant	NM_000410.4(HFE):c.867G>C (p.Leu289=)	Hereditary hemochromatosis [RCV000875450]	likely benign	6	26092935	26092935	Human	1	name
15121635	CV735565	single nucleotide variant	NM_000410.4(HFE):c.474A>G (p.Ala158=)	Hereditary hemochromatosis [RCV003588682]	likely benign	6	26091447	26091447	Human	1	name
15175164	CV765611	single nucleotide variant	NM_000410.4(HFE):c.978C>T (p.Phe326=)	Hereditary hemochromatosis [RCV001456049]	likely benign	6	26093204	26093204	Human	1	name
15128937	CV782503	single nucleotide variant	NM_000410.4(HFE):c.345C>A (p.Ser115=)	Hereditary hemochromatosis [RCV001490192]	likely benign	6	26091318	26091318	Human	1	name
15125084	CV782504	single nucleotide variant	NM_000410.4(HFE):c.903G>C (p.Pro301=)	Hereditary hemochromatosis [RCV001418501]	likely benign	6	26093129	26093129	Human	1	name
28903909	CV895724	single nucleotide variant	NM_000410.4(HFE):c.40C>G (p.Leu14Val)	Hemochromatosis type 1 [RCV001157771]\|Hereditary hemochromatosis [RCV001247202]\|not provided [RCV001577526]	uncertain significance	6	26087480	26087480	Human	2	name , alternate_id
127259312	CV1060651	single nucleotide variant	NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	Hemochromatosis type 1 [RCV003127860]\|Hereditary hemochromatosis [RCV001387126]	pathogenic\|likely pathogenic	6	26090975	26090975	Human	2	name , alternate_id
127251400	CV1060652	deletion	NM_000410.4(HFE):c.480del (p.Arg161fs)	Hereditary hemochromatosis [RCV001385485]	pathogenic	6	26091451	26091451	Human	1	name
151661289	CV1175513	single nucleotide variant	NM_000410.4(HFE):c.262A>T (p.Ser88Cys)	Hemochromatosis type 1 [RCV001823010]	likely pathogenic	6	26091026	26091026	Human	1	name , alternate_id
150532093	CV1306231	single nucleotide variant	NM_000410.4(HFE):c.196C>T (p.Arg66Cys)	Hemochromatosis type 1 [RCV003125900]\|not provided [RCV001757420]\|not specified [RCV002300585]	uncertain significance	6	26090960	26090960	Human	1	name , alternate_id
150550858	CV1308559	single nucleotide variant	NM_000410.4(HFE):c.200G>A (p.Arg67His)	Inborn genetic diseases [RCV004988739]\|not provided [RCV001766063]	uncertain significance	6	26090964	26090964	Human	1	name
151236224	CV1319679	single nucleotide variant	NM_000410.4(HFE):c.283G>C (p.Asp95His)	not specified [RCV001797883]	uncertain significance	6	26091047	26091047	Human		name
151779558	CV1380288	deletion	NM_000410.4(HFE):c.626del (p.Leu209fs)	Hereditary hemochromatosis [RCV001950938]	pathogenic	6	26092692	26092692	Human	1	name
151816948	CV1385558	single nucleotide variant	NM_000410.4(HFE):c.182A>G (p.Tyr61Cys)	Hereditary hemochromatosis [RCV002012999]	uncertain significance	6	26090946	26090946	Human	1	name
8555370	CV15049	single nucleotide variant	NM_000410.4(HFE):c.187C>G (p.His63Asp)	Alzheimer disease [RCV000763144]\|Bronze diabetes [RCV001248831]\|Cardiomyopathy [RCV001731265]\|Cystic fibrosis [RCV000991133]\|Hemochromatosis type 1 [RCV000000026]\|Hereditary hemochromatosis [RCV000394716]\|See cases [RCV004584302]\|Variegate porphyria [RCV002272003]\|not provided [RCV000175607]\|not spe ... (more) cified [RCV000844708]	pathogenic\|likely pathogenic\|risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|low penetrance\|conflicting data from submitters\|no classifications from unflagged records\|other\|not provided	6	26090951	26090951	Human	44	name , alternate_id
8555371	CV15050	single nucleotide variant	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	Alzheimer disease [RCV000764641]\|HFE-related disorder [RCV004532264]\|Hemochromatosis type 1 [RCV000000028]\|Hereditary hemochromatosis [RCV000290779]\|Variegate porphyria [RCV003224085]\|not provided [RCV000998547]\|not specified [RCV001328435]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	26090957	26090957	Human	15	name , trait , alternate_id
8555371	CV15050	single nucleotide variant	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	Alzheimer disease [RCV000764641]\|HFE-related disorder [RCV004532264]\|Hemochromatosis type 1 [RCV000000028]\|Hereditary hemochromatosis [RCV000290779]\|Variegate porphyria [RCV003224085]\|not provided [RCV000998547]\|not specified [RCV001328435]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	26090957	26090958	Human	15	name , trait , alternate_id
8555373	CV15052	single nucleotide variant	NM_000410.4(HFE):c.277G>C (p.Gly93Arg)	Hemochromatosis type 1 [RCV000000030]\|not specified [RCV004700171]	pathogenic\|uncertain significance	6	26091041	26091041	Human	1	name , alternate_id
8555375	CV15054	single nucleotide variant	NM_000410.4(HFE):c.157G>A (p.Val53Met)	HFE POLYMORPHISM [RCV000000032]\|Hemochromatosis type 1 [RCV001336845]\|not provided [RCV005255550]	benign\|uncertain significance	6	26090921	26090921	Human	3	name , trait , alternate_id
8555376	CV15055	single nucleotide variant	NM_000410.4(HFE):c.175G>A (p.Val59Met)	HFE POLYMORPHISM [RCV000000033]\|Hemochromatosis type 1 [RCV000987659]\|not specified [RCV003234881]	benign\|uncertain significance	6	26090939	26090939	Human	3	name , trait , alternate_id
155713225	CV1760272	single nucleotide variant	NM_000410.4(HFE):c.105G>C (p.Met35Ile)	not provided [RCV002300778]	uncertain significance	6	26090869	26090869	Human		name
156348926	CV1878208	single nucleotide variant	NM_000410.4(HFE):c.278G>T (p.Gly93Val)	Hereditary hemochromatosis [RCV003064689]	uncertain significance	6	26091042	26091042	Human	1	name
156370761	CV2171169	single nucleotide variant	NM_000410.4(HFE):c.1002T>C (p.Gly334=)	Hereditary hemochromatosis [RCV003032207]	likely benign	6	26093228	26093228	Human	1	name
11040091	CV224314	single nucleotide variant	NM_000410.4(HFE):c.200G>T (p.Arg67Leu)	Hemochromatosis type 1 [RCV000208335]	uncertain significance	6	26090964	26090964	Human	1	name , alternate_id
11347964	CV239897	single nucleotide variant	NM_000410.4(HFE):c.1026C>T (p.Tyr342=)	Hemochromatosis type 1 [RCV001152295]\|Hereditary hemochromatosis [RCV000233888]\|not provided [RCV001709519]	benign\|uncertain significance	6	26094205	26094205	Human	2	name , alternate_id
156451196	CV2402581	single nucleotide variant	NM_000410.4(HFE):c.145G>T (p.Ala49Ser)	not specified [RCV003123388]	uncertain significance	6	26090909	26090909	Human		name
243059985	CV2407703	single nucleotide variant	NM_000410.4(HFE):c.202G>A (p.Val68Met)	Hemochromatosis type 1 [RCV003485839]	uncertain significance	6	26090966	26090966	Human	1	name , alternate_id
243056520	CV2418805	single nucleotide variant	NM_000410.4(HFE):c.282G>T (p.Trp94Cys)	not specified [RCV003155772]	uncertain significance	6	26091046	26091046	Human		name
329387256	CV2463488	single nucleotide variant	NM_000410.4(HFE):c.217C>G (p.Pro73Ala)	Inborn genetic diseases [RCV003215169]	uncertain significance	6	26090981	26090981	Human	1	name
329375522	CV2468662	single nucleotide variant	NM_000410.4(HFE):c.110C>T (p.Ala37Val)	Inborn genetic diseases [RCV003211185]	uncertain significance	6	26090874	26090874	Human	1	name
405195576	CV2867976	deletion	NM_000410.4(HFE):c.663del (p.Thr222fs)	Hereditary hemochromatosis [RCV003590486]	pathogenic	6	26092730	26092730	Human	1	name
405178029	CV2883516	single nucleotide variant	NM_000410.4(HFE):c.1035T>A (p.Ala345=)	Hereditary hemochromatosis [RCV003588323]	likely benign	6	26094214	26094214	Human	1	name
405205127	CV3117038	single nucleotide variant	NM_000410.4(HFE):c.199C>T (p.Arg67Cys)	Hereditary hemochromatosis [RCV003822522]	likely pathogenic	6	26090963	26090963	Human	1	name
596941991	CV3543924	single nucleotide variant	NM_000410.4(HFE):c.166C>T (p.Gln56Ter)	Hemochromatosis type 1 [RCV004799914]	pathogenic	6	26090930	26090930	Human	1	name , alternate_id
597962614	CV3791482	deletion	NM_000410.4(HFE):c.774del (p.Asn259fs)	Hereditary hemochromatosis [RCV005139236]	pathogenic	6	26092840	26092840	Human	1	name
597975932	CV3796018	single nucleotide variant	NM_000410.4(HFE):c.295A>G (p.Thr99Ala)	Hereditary hemochromatosis [RCV005144849]	uncertain significance	6	26091059	26091059	Human	1	name
617152843	CV4018437	single nucleotide variant	NM_000410.4(HFE):c.214A>T (p.Thr72Ser)	not specified [RCV005418697]	uncertain significance	6	26090978	26090978	Human		name
13473268	CV443940	single nucleotide variant	NM_000410.4(HFE):c.212G>A (p.Arg71Gln)	Hemochromatosis type 1 [RCV005400453]\|not provided [RCV000519340]	uncertain significance	6	26090976	26090976	Human	1	name , alternate_id
13620222	CV521830	deletion	NM_000410.4(HFE):c.762del (p.Asp255fs)	Hereditary hemochromatosis [RCV000636244]	pathogenic	6	26092828	26092828	Human	1	name
38470962	CV954408	single nucleotide variant	NM_000410.4(HFE):c.107G>A (p.Gly36Asp)	Hereditary hemochromatosis [RCV001246359]	uncertain significance	6	26090871	26090871	Human	1	name
38498662	CV954409	deletion	NM_000410.4(HFE):c.968del (p.Gly323fs)	Hereditary hemochromatosis [RCV001243957]	uncertain significance	6	26093193	26093193	Human	1	name
126917781	CV1044051	single nucleotide variant	NM_000410.4(HFE):c.563C>T (p.Pro188Leu)	Hereditary hemochromatosis [RCV001361362]	uncertain significance	6	26091536	26091536	Human	1	name
150423889	CV1183791	single nucleotide variant	NM_000410.4(HFE):c.496A>G (p.Lys166Glu)	Hemochromatosis type 1 [RCV003127991]\|Hereditary hemochromatosis [RCV001882638]\|not provided [RCV001555930]	uncertain significance	6	26091469	26091469	Human	2	name , alternate_id
150532208	CV1308447	single nucleotide variant	NM_000410.4(HFE):c.401G>C (p.Gly134Ala)	not provided [RCV001757491]	uncertain significance	6	26091374	26091374	Human		name
150533786	CV1311316	single nucleotide variant	NM_000410.4(HFE):c.944T>G (p.Val315Gly)	not provided [RCV001777051]	uncertain significance	6	26093170	26093170	Human		name
151783512	CV1435101	single nucleotide variant	NM_000410.4(HFE):c.498G>C (p.Lys166Asn)	Hereditary hemochromatosis [RCV001916094]\|not provided [RCV003229067]\|not specified [RCV004690170]	uncertain significance	6	26091471	26091471	Human	1	name
151857053	CV1491233	single nucleotide variant	NM_000410.4(HFE):c.414C>G (p.Tyr138Ter)	Hereditary hemochromatosis [RCV001958725]	pathogenic	6	26091387	26091387	Human	1	name
8555369	CV15048	single nucleotide variant	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	Abnormality of the nervous system [RCV001270034]\|Bronze diabetes [RCV001248830]\|Cardiomyopathy [RCV001731264]\|Cutaneous photosensitivity [RCV000414811]\|HFE-related disorder [RCV002280089]\|Hemochromatosis type 1 [RCV000000019]\|Hereditary cancer-predisposing syndr ... (more) ome [RCV000210820]\|Hereditary hemochromatosis [RCV000308358]\|Inborn genetic diseases [RCV002512585]\|Juvenile hemochromatosis [RCV003493406]\|Variegate porphyria [RCV003224084]\|not provided [RCV000178096]	pathogenic\|likely pathogenic\|risk factor\|association\|benign\|uncertain significance\|low penetrance\|no classifications from unflagged records\|other\|not provided	6	26092913	26092913	Human	108	name , trait , alternate_id
8555369	CV15048	single nucleotide variant	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	Abnormality of the nervous system [RCV001270034]\|Bronze diabetes [RCV001248830]\|Cardiomyopathy [RCV001731264]\|Cutaneous photosensitivity [RCV000414811]\|HFE-related disorder [RCV002280089]\|Hemochromatosis type 1 [RCV000000019]\|Hereditary cancer-predisposing syndr ... (more) ome [RCV000210820]\|Hereditary hemochromatosis [RCV000308358]\|Inborn genetic diseases [RCV002512585]\|Juvenile hemochromatosis [RCV003493406]\|Variegate porphyria [RCV003224084]\|not provided [RCV000178096]	pathogenic\|likely pathogenic\|risk factor\|association\|benign\|uncertain significance\|low penetrance\|no classifications from unflagged records\|other\|not provided	6	26092913	26092914	Human	108	name , trait , alternate_id
8555372	CV15051	single nucleotide variant	NM_000410.4(HFE):c.314T>C (p.Ile105Thr)	Hemochromatosis type 1 [RCV000000029]\|Hereditary hemochromatosis [RCV001322296]	pathogenic\|uncertain significance	6	26091078	26091078	Human	2	name , alternate_id
8555377	CV15056	single nucleotide variant	NM_000410.4(HFE):c.381A>C (p.Gln127His)	Hemochromatosis type 1 [RCV000000034]\|not specified [RCV004766972]	pathogenic\|uncertain significance	6	26091354	26091354	Human	1	name , alternate_id
8555378	CV15057	single nucleotide variant	NM_000410.4(HFE):c.989G>T (p.Arg330Met)	Hemochromatosis type 1 [RCV000000035]	pathogenic	6	26093215	26093215	Human	1	name , alternate_id
8555379	CV15058	single nucleotide variant	NM_000410.4(HFE):c.848A>C (p.Gln283Pro)	Hemochromatosis type 1 [RCV000000036]\|Hereditary hemochromatosis [RCV001050090]\|Incidental Discovery [RCV005229758]\|not provided [RCV003884332]	pathogenic\|likely pathogenic	6	26092916	26092916	Human	2	name , alternate_id
155714625	CV1760365	single nucleotide variant	NM_000410.4(HFE):c.755A>G (p.Glu252Gly)	not provided [RCV002300872]	uncertain significance	6	26092823	26092823	Human		name
156059366	CV1892263	single nucleotide variant	NM_000410.4(HFE):c.548T>C (p.Leu183Pro)	Hemochromatosis type 1 [RCV005045240]\|Hereditary hemochromatosis [RCV003079167]	pathogenic\|likely pathogenic	6	26091521	26091521	Human	2	name , alternate_id
156128396	CV1927443	single nucleotide variant	NM_000410.4(HFE):c.832C>T (p.Gln278Ter)	Hereditary hemochromatosis [RCV002640614]	pathogenic	6	26092900	26092900	Human	1	name
156056471	CV1935168	single nucleotide variant	NM_000410.4(HFE):c.817C>T (p.Pro273Ser)	not specified [RCV002510456]	uncertain significance	6	26092885	26092885	Human		name
156111714	CV2038807	single nucleotide variant	NM_000410.4(HFE):c.313A>G (p.Ile105Val)	Hereditary hemochromatosis [RCV002785424]	uncertain significance	6	26091077	26091077	Human	1	name
10408150	CV205545	single nucleotide variant	NM_000410.4(HFE):c.506G>A (p.Trp169Ter)	Hemochromatosis type 1 [RCV000190907]	pathogenic\|not provided	6	26091479	26091479	Human	1	name , alternate_id
156177269	CV2072091	single nucleotide variant	NM_000410.4(HFE):c.407G>A (p.Trp136Ter)	Hereditary hemochromatosis [RCV002851723]	pathogenic	6	26091380	26091380	Human	1	name
156361164	CV2119481	single nucleotide variant	NM_000410.4(HFE):c.727A>G (p.Lys243Glu)	Hereditary hemochromatosis [RCV002966991]\|Inborn genetic diseases [RCV004068229]	uncertain significance	6	26092795	26092795	Human	2	name
156396412	CV2178190	single nucleotide variant	NM_000410.4(HFE):c.760A>T (p.Lys254Ter)	Hereditary hemochromatosis [RCV003051883]	pathogenic	6	26092828	26092828	Human	1	name
156291978	CV2226392	single nucleotide variant	NM_000410.4(HFE):c.479C>G (p.Pro160Arg)	Inborn genetic diseases [RCV002747841]	uncertain significance	6	26091452	26091452	Human	1	name
11039942	CV224315	single nucleotide variant	NM_000410.4(HFE):c.502G>C (p.Glu168Gln)	Hemochromatosis type 1 [RCV000208047]\|Hereditary hemochromatosis [RCV000557367]\|Variegate porphyria [RCV002485360]\|not provided [RCV000998548]\|not specified [RCV005230090]	uncertain significance	6	26091475	26091475	Human	3	name , alternate_id
156111071	CV2261704	single nucleotide variant	NM_000410.4(HFE):c.692A>G (p.Tyr231Cys)	Inborn genetic diseases [RCV002799735]	uncertain significance	6	26092760	26092760	Human	1	name
156111095	CV2261705	single nucleotide variant	NM_000410.4(HFE):c.896C>A (p.Pro299His)	Inborn genetic diseases [RCV002799736]	uncertain significance	6	26093122	26093122	Human	1	name
155905309	CV2285947	single nucleotide variant	NM_000410.4(HFE):c.320A>G (p.Glu107Gly)	Inborn genetic diseases [RCV002837126]	uncertain significance	6	26091084	26091084	Human	1	name
156209502	CV2304508	single nucleotide variant	NM_000410.4(HFE):c.633G>C (p.Lys211Asn)	Inborn genetic diseases [RCV002893674]	uncertain significance	6	26092701	26092701	Human	1	name
156401854	CV2371029	single nucleotide variant	NM_000410.4(HFE):c.677G>A (p.Arg226Gln)	Inborn genetic diseases [RCV002657152]	likely benign	6	26092745	26092745	Human	1	name
329955210	CV2671151	single nucleotide variant	NM_000410.4(HFE):c.814G>T (p.Val272Leu)	not specified [RCV003236424]	uncertain significance	6	26092882	26092882	Human		name
401739419	CV2708447	single nucleotide variant	NM_000410.4(HFE):c.887T>C (p.Ile296Thr)	Inborn genetic diseases [RCV003292086]	likely benign	6	26092955	26092955	Human	1	name
401779275	CV2709657	single nucleotide variant	NM_000410.4(HFE):c.397G>A (p.Glu133Lys)	Inborn genetic diseases [RCV003287500]	uncertain significance	6	26091370	26091370	Human	1	name
401925266	CV2805332	single nucleotide variant	NM_000410.4(HFE):c.814G>A (p.Val272Ile)	not specified [RCV003405153]	uncertain significance	6	26092882	26092882	Human		name
405007580	CV2853110	single nucleotide variant	NM_000410.4(HFE):c.622C>G (p.Pro208Ala)	not specified [RCV003494304]	uncertain significance	6	26092690	26092690	Human		name
405186852	CV2913168	single nucleotide variant	NM_000410.4(HFE):c.840T>A (p.Tyr280Ter)	Hereditary hemochromatosis [RCV003589475]	pathogenic	6	26092908	26092908	Human	1	name
405111566	CV2963653	single nucleotide variant	NM_000410.4(HFE):c.546C>A (p.Tyr182Ter)	Hereditary hemochromatosis [RCV003751649]	pathogenic	6	26091519	26091519	Human	1	name
405112924	CV2984833	single nucleotide variant	NM_000410.4(HFE):c.314T>G (p.Ile105Ser)	Hereditary hemochromatosis [RCV003751882]	uncertain significance	6	26091078	26091078	Human	1	name
405114218	CV2999468	single nucleotide variant	NM_000410.4(HFE):c.712A>T (p.Lys238Ter)	Hereditary hemochromatosis [RCV003752099]	pathogenic	6	26092780	26092780	Human	1	name
11597493	CV302313	single nucleotide variant	NM_000410.4(HFE):c.829G>A (p.Glu277Lys)	Hereditary hemochromatosis [RCV001084109]\|not provided [RCV000727614]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	26092897	26092897	Human	1	name
405105947	CV3035995	single nucleotide variant	NM_000410.4(HFE):c.742G>A (p.Ala248Thr)	Hereditary hemochromatosis [RCV003750374]	uncertain significance	6	26092810	26092810	Human	1	name
11607873	CV307009	single nucleotide variant	NM_000410.4(HFE):c.707C>T (p.Thr236Ile)	Hemochromatosis type 1 [RCV000348043]	uncertain significance	6	26092775	26092775	Human	1	name , alternate_id
405110068	CV3073004	single nucleotide variant	NM_000410.4(HFE):c.965T>C (p.Ile322Thr)	Hereditary hemochromatosis [RCV003751388]	uncertain significance	6	26093191	26093191	Human	1	name
405111169	CV3075136	single nucleotide variant	NM_000410.4(HFE):c.679G>C (p.Ala227Pro)	Hereditary hemochromatosis [RCV003751581]	uncertain significance	6	26092747	26092747	Human	1	name
402523041	CV3126972	single nucleotide variant	NM_000410.4(HFE):c.610C>T (p.Gln204Ter)	Hereditary hemochromatosis [RCV003824890]	pathogenic	6	26091583	26091583	Human	1	name
402470448	CV3175180	single nucleotide variant	NM_000410.4(HFE):c.568C>T (p.Gln190Ter)	Hereditary hemochromatosis [RCV003874112]	pathogenic	6	26091541	26091541	Human	1	name
405776949	CV3273956	single nucleotide variant	NM_000410.4(HFE):c.344C>G (p.Ser115Cys)	Inborn genetic diseases [RCV004396931]	uncertain significance	6	26091317	26091317	Human	1	name
405776956	CV3273957	single nucleotide variant	NM_000410.4(HFE):c.895C>A (p.Pro299Thr)	Inborn genetic diseases [RCV004396932]	uncertain significance	6	26093121	26093121	Human	1	name
405735864	CV3392412	single nucleotide variant	NM_000410.4(HFE):c.976T>A (p.Phe326Ile)	Hemochromatosis type 1 [RCV004525815]	pathogenic\|uncertain significance	6	26093202	26093202	Human	1	name , alternate_id
408378665	CV3517972	single nucleotide variant	NM_000410.4(HFE):c.896C>T (p.Pro299Leu)	HFE-related disorder [RCV004737791]\|not provided [RCV004775639]	uncertain significance	6	26093122	26093122	Human	1	name , trait , alternate_id
597691366	CV3685684	single nucleotide variant	NM_000410.4(HFE):c.875C>A (p.Pro292His)	Inborn genetic diseases [RCV004985803]	uncertain significance	6	26092943	26092943	Human	1	name
597693127	CV3685685	single nucleotide variant	NM_000410.4(HFE):c.550G>C (p.Glu184Gln)	Inborn genetic diseases [RCV004985804]	uncertain significance	6	26091523	26091523	Human	1	name
597833713	CV3735067	single nucleotide variant	NM_000410.4(HFE):c.524G>A (p.Arg175Gln)	not provided [RCV005054800]	uncertain significance	6	26091497	26091497	Human		name
597885497	CV3741688	single nucleotide variant	NM_000410.4(HFE):c.899C>A (p.Ser300Ter)	Hereditary hemochromatosis [RCV005070407]	pathogenic	6	26093125	26093125	Human	1	name
597923623	CV3772456	single nucleotide variant	NM_000410.4(HFE):c.541G>A (p.Ala181Thr)	Hereditary hemochromatosis [RCV005115606]	uncertain significance	6	26091514	26091514	Human	1	name
597967147	CV3823755	single nucleotide variant	NM_000410.4(HFE):c.693C>G (p.Tyr231Ter)	Hereditary hemochromatosis [RCV005165175]	pathogenic	6	26092761	26092761	Human	1	name
598124299	CV3885145	single nucleotide variant	NM_000410.4(HFE):c.817C>A (p.Pro273Thr)	not specified [RCV005239722]	uncertain significance	6	26092885	26092885	Human		name
12889277	CV395090	single nucleotide variant	NM_000410.4(HFE):c.892G>T (p.Glu298Ter)	Hemochromatosis type 1 [RCV003230498]\|Hereditary hemochromatosis [RCV002230773]	pathogenic\|likely pathogenic	6	26092960	26092960	Human	2	name , alternate_id
598177305	CV3978696	single nucleotide variant	NM_000410.4(HFE):c.737T>C (p.Met246Thr)	Inborn genetic diseases [RCV005351808]	uncertain significance	6	26092805	26092805	Human	1	name
616935194	CV4009371	single nucleotide variant	NM_000410.4(HFE):c.710T>G (p.Met237Arg)	not provided [RCV005402543]	uncertain significance	6	26092778	26092778	Human		name
13494911	CV455487	single nucleotide variant	NM_000410.4(HFE):c.389A>G (p.Asn130Ser)	Hereditary hemochromatosis [RCV000536746]\|Inborn genetic diseases [RCV003258860]	uncertain significance	6	26091362	26091362	Human	2	name
13477462	CV455588	single nucleotide variant	NM_000410.4(HFE):c.766G>A (p.Val256Ile)	Hemochromatosis type 1 [RCV003126811]\|Hereditary hemochromatosis [RCV000549604]\|Variegate porphyria [RCV002490999]	uncertain significance	6	26092834	26092834	Human	3	name , alternate_id
13476385	CV455591	single nucleotide variant	NM_000410.4(HFE):c.884T>C (p.Val295Ala)	HFE-related disorder [RCV004737806]\|Hemochromatosis type 1 [RCV001152293]\|Hereditary hemochromatosis [RCV001085995]\|not provided [RCV000729729]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	26092952	26092952	Human	2	name , trait , alternate_id
13820508	CV560678	single nucleotide variant	NM_000410.4(HFE):c.622C>A (p.Pro208Thr)	Hereditary hemochromatosis [RCV000694916]	uncertain significance	6	26092690	26092690	Human	1	name
14688234	CV620224	single nucleotide variant	NM_000410.4(HFE):c.676C>T (p.Arg226Trp)	Hemochromatosis type 1 [RCV000779501]\|Hereditary hemochromatosis [RCV005056540]\|Variegate porphyria [RCV002487603]	uncertain significance	6	26092744	26092744	Human	3	name , alternate_id
14690709	CV621748	indel	NM_000410.4(HFE):c.77-2_78delinsTGGAGTC	Hemochromatosis type 1 [RCV000781466]	likely pathogenic	6	26090839	26090842	Human		name , alternate_id
28903915	CV895725	single nucleotide variant	NM_000410.4(HFE):c.670C>T (p.Arg224Trp)	Hemochromatosis type 1 [RCV001157774]\|Hereditary hemochromatosis [RCV002559517]\|not provided [RCV001776123]	uncertain significance	6	26092738	26092738	Human	2	name , alternate_id
38467991	CV933266	single nucleotide variant	NM_000410.4(HFE):c.842C>T (p.Thr281Met)	Hereditary hemochromatosis [RCV001202123]	uncertain significance	6	26092910	26092910	Human	1	name
38476613	CV944962	single nucleotide variant	NM_000410.4(HFE):c.724G>A (p.Asp242Asn)	Hereditary hemochromatosis [RCV001233153]	uncertain significance	6	26092792	26092792	Human	1	name
10408149	CV94503	single nucleotide variant	NM_000410.4(HFE):c.502G>T (p.Glu168Ter)	Hemochromatosis type 1 [RCV000190906]\|Hereditary hemochromatosis [RCV001058987]	pathogenic\|not provided	6	26091475	26091475	Human	2	name , alternate_id
408386380	CV3528897	single nucleotide variant	NM_000410.4(HFE):c.1031T>C (p.Leu344Ser)	not provided [RCV004772730]	uncertain significance	6	26094210	26094210	Human		name
596931626	CV3531904	single nucleotide variant	NM_000410.4(HFE):c.1045T>A (p.Ter349Arg)	not provided [RCV004781466]	uncertain significance	6	26094224	26094224	Human		name
597662993	CV3732389	single nucleotide variant	NM_000410.4(HFE):c.1040G>A (p.Arg347His)	not provided [RCV005003858]	uncertain significance	6	26094219	26094219	Human		name
597929593	CV3862226	single nucleotide variant	NM_000410.4(HFE):c.1000G>T (p.Gly334Cys)	Hereditary hemochromatosis [RCV005206467]	uncertain significance	6	26093226	26093226	Human	1	name
13496698	CV455491	single nucleotide variant	NM_000410.4(HFE):c.1010G>T (p.Gly337Val)	Hereditary hemochromatosis [RCV000560542]\|Inborn genetic diseases [RCV004629236]	uncertain significance	6	26094189	26094189	Human	2	name
597746537	CV3725296	deletion	NM_000410.4(HFE):c.106_109del (p.Gly36fs)	Hemochromatosis type 1 [RCV005039635]	likely pathogenic	6	26090868	26090871	Human	1	name , alternate_id
150451707	CV1207258	microsatellite	NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del)	Hemochromatosis type 1 [RCV001582388]	likely pathogenic	6	26092754	26092756	Human		name , alternate_id
597853618	CV3805822	deletion	NM_000410.4(HFE):c.440_446del (p.Glu147fs)	Hereditary hemochromatosis [RCV005145752]	pathogenic	6	26091411	26091417	Human	1	name
12891889	CV395689	deletion	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	Hemochromatosis type 1 [RCV003126743]\|Hereditary hemochromatosis [RCV002230337]\|Variegate porphyria [RCV002489030]	pathogenic\|likely pathogenic	6	26091519	26091520	Human	3	name , alternate_id
21069217	CV795809	single nucleotide variant	NM_000410.4(HFE):c.150G>A (p.Leu50_Gly51=)	not provided [RCV000998546]	likely benign	6	26090914	26090914	Human		name
127240086	CV1060653	deletion	NM_000410.4(HFE):c.1022_1034del (p.His341fs)	Hemochromatosis type 1 [RCV003485713]\|Hereditary hemochromatosis [RCV001383379]	pathogenic	6	26094199	26094211	Human	2	name , alternate_id
156013594	CV2103832	insertion	NM_000410.4(HFE):c.1015_1016insG (p.Met339fs)	Hereditary hemochromatosis [RCV002909244]	uncertain significance	6	26094194	26094195	Human	1	name
405199573	CV2923745	duplication	NM_000410.4(HFE):c.720_726dup (p.Lys243delinsGluGlyTer)	Hereditary hemochromatosis [RCV003591047]	pathogenic	6	26092786	26092787	Human	1	name
243056521	CV2418806	indel	NM_000410.4(HFE):c.282_283delinsTC (p.Trp94_Asp95delinsCysHis)	not specified [RCV003155773]	uncertain significance	6	26091046	26091047	Human		name
8555226	CV17404	single nucleotide variant	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	Hemochromatosis type 1 [RCV000002462]\|Hemochromatosis type 2A [RCV000002461]\|Juvenile hemochromatosis [RCV004017220]\|not provided [RCV000791424]	pathogenic	1	146018399	146018399	Human	3	alternate_id
8555232	CV17410	single nucleotide variant	NM_213653.4(HJV):c.963C>A (p.Cys321Ter)	Hemochromatosis type 1 [RCV000002469]\|Hemochromatosis type 2A [RCV000002468]	pathogenic	1	146018395	146018395	Human	2	alternate_id
8557986	CV19325	single nucleotide variant	NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	HAMP-related disorder [RCV003974795]\|Hemochromatosis type 1 [RCV000990194]\|Hemochromatosis type 2B [RCV001127434]\|Hemochromatosis, type 2a, modifier of [RCV000004507]\|Hereditary hemochromatosis [RCV001086432]\|not provided [RCV005241317]\|not specified [RCV000599701]	pathogenic\|risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	35284999	35284999	Human	9	alternate_id
8557986	CV19325	single nucleotide variant	NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	HAMP-related disorder [RCV003974795]\|Hemochromatosis type 1 [RCV000990194]\|Hemochromatosis type 2B [RCV001127434]\|Hemochromatosis, type 2a, modifier of [RCV000004507]\|Hereditary hemochromatosis [RCV001086432]\|not provided [RCV005241317]\|not specified [RCV000599701]	pathogenic\|risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	35284999	35285000	Human	9	alternate_id
13804079	CV561169	single nucleotide variant	NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)	Hemochromatosis type 1 [RCV000987938]\|Hemochromatosis type 3 [RCV001164901]\|Hereditary hemochromatosis [RCV000699475]\|not provided [RCV000998861]	uncertain significance	7	100631041	100631041	Human	3	alternate_id
21070982	CV790139	single nucleotide variant	NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp)	Hemochromatosis type 1 [RCV000986958]\|Hemochromatosis type 4 [RCV001137399]	uncertain significance	2	189565419	189565419	Human	2	alternate_id
21071648	CV790670	single nucleotide variant	NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)	Hemochromatosis type 1 [RCV000987937]\|Hemochromatosis type 3 [RCV003473533]\|Hereditary hemochromatosis [RCV001068810]	pathogenic\|likely pathogenic	7	100626798	100626798	Human	3	alternate_id

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