HJV[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 875020	NM_213653.4(HJV):c.*574A>T	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875019	NM_213653.4(HJV):c.*372A>G	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 292435	NM_213653.4(HJV):c.*288A>C	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875018	NM_213653.4(HJV):c.*198G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875017	NM_213653.4(HJV):c.*197G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 875016	NM_213653.4(HJV):c.*190G>A	HJV	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 2A	GUncertain significance
Select item 1078816	NM_213653.4(HJV):c.1275T>C (p.Ile425=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907254	NM_213653.4(HJV):c.1266G>A (p.Trp422Ter)	HJV (W309* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 216846	NM_213653.4(HJV):c.1264T>C (p.Trp422Arg)	HJV (W422R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709553	NM_213653.4(HJV):c.1260T>C (p.Val420=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292434	NM_213653.4(HJV):c.1257T>G (p.Phe419Leu)	HJV (F419L +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 292433	NM_213653.4(HJV):c.1254C>G (p.Leu418=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A	GUncertain significance
Select item 2784264	NM_213653.4(HJV):c.1248T>C (p.Ser416=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1199284	NM_213653.4(HJV):c.1238C>T (p.Pro413Leu)	HJV (P187L +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 1139010	NM_213653.4(HJV):c.1227C>A (p.Thr409=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084752	NM_213653.4(HJV):c.1227C>T (p.Thr409=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567842	NM_213653.4(HJV):c.1206G>A (p.Gly402=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092098	NM_213653.4(HJV):c.1206G>T (p.Gly402=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897455	NM_213653.4(HJV):c.1197A>G (p.Ser399=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752678	NM_213653.4(HJV):c.1194C>G (p.Pro398=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160011	NM_213653.4(HJV):c.1191C>T (p.Phe397=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088576	NM_213653.4(HJV):c.1188C>G (p.Leu396=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545867	NM_213653.4(HJV):c.1182G>A (p.Leu394=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539549	NM_213653.4(HJV):c.1178A>G (p.Lys393Arg)	HJV (K167R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1115321	NM_213653.4(HJV):c.1176G>A (p.Glu392=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752433	NM_213653.4(HJV):c.1164G>A (p.Leu388=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535702	NM_213653.4(HJV):c.1162C>T (p.Leu388=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621228	NM_213653.4(HJV):c.1153C>A (p.Arg385=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1066333	NM_213653.4(HJV):c.1153C>T (p.Arg385Ter)	HJV (R159* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1575621	NM_213653.4(HJV):c.1152C>T (p.Ala384=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106084	NM_213653.4(HJV):c.1150G>T (p.Ala384Ser)	HJV (A271S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2029878	NM_213653.4(HJV):c.1149T>C (p.Asp383=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019451	NM_213653.4(HJV):c.1143G>A (p.Leu381=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3366979	NM_213653.4(HJV):c.1142T>C (p.Leu381Pro)	HJV (L155P +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 2901078	NM_213653.4(HJV):c.1142T>G (p.Leu381Arg)	HJV (L268R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020892	NM_213653.4(HJV):c.1141C>A (p.Leu381Met)	HJV (L155M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085157	NM_213653.4(HJV):c.1134G>A (p.Gln378=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586108	NM_213653.4(HJV):c.1122C>T (p.Thr374=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292432	NM_213653.4(HJV):c.1113C>T (p.Pro371=)	HJV	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1134028	NM_213653.4(HJV):c.1110T>C (p.Asp370=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114093	NM_213653.4(HJV):c.1101T>A (p.Ile367=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 965344	NM_213653.4(HJV):c.1097T>A (p.Leu366Ter)	HJV (L140* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1398738	NM_213653.4(HJV):c.1093del (p.Val365fs)	HJV (V139fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 874086	NM_213653.4(HJV):c.1084G>A (p.Val362Ile)	HJV (V249I +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 2062440	NM_213653.4(HJV):c.1076A>G (p.His359Arg)	HJV (H359R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131342	NM_213653.4(HJV):c.1074C>T (p.Phe358=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912475	NM_213653.4(HJV):c.1071C>T (p.Tyr357=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 697003	NM_213653.4(HJV):c.1068T>C (p.Ala356=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561107	NM_213653.4(HJV):c.1065T>C (p.Asp355=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106083	NM_213653.4(HJV):c.1051C>T (p.Leu351Phe)	HJV (L238F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1157988	NM_213653.4(HJV):c.1047A>G (p.Glu349=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091653	NM_213653.4(HJV):c.1036C>T (p.Leu346=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700997	NM_213653.4(HJV):c.1029C>T (p.Ala343=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103078	NM_213653.4(HJV):c.1023T>C (p.Asp341=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511768	NM_213653.4(HJV):c.1022A>T (p.Asp341Val)	HJV (D228V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123212	NM_213653.4(HJV):c.1017C>T (p.Thr339=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002377	NM_213653.4(HJV):c.1012A>G (p.Ile338Val)	HJV (I112V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590209	NM_213653.4(HJV):c.1011T>A (p.Ala337=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560162	NM_213653.4(HJV):c.1006G>T (p.Gly336Ter)	HJV (G336* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 664777	NM_213653.4(HJV):c.1004G>A (p.Arg335Gln)	HJV (R222Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3106082	NM_213653.4(HJV):c.1001G>A (p.Arg334His)	HJV (R108H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1426240	NM_213653.4(HJV):c.997A>T (p.Asn333Tyr)	HJV (N220Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874085	NM_213653.4(HJV):c.994C>T (p.Arg332Cys)	HJV (R106C +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 292431	NM_213653.4(HJV):c.986G>C (p.Arg329Pro)	HJV (R329P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1076870	NM_213653.4(HJV):c.984_985del (p.Arg329fs)	HJV (R103fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 961016	NM_213653.4(HJV):c.985C>T (p.Arg329Ter)	HJV (R103* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2372	NM_213653.4(HJV):c.982_985del (p.Ser328fs)	HJV (S328fs +2 more)	Microsatellite (frameshift variant)	Hemochromatosis type 2A	GPathogenic
Select item 2602312	NM_213653.4(HJV):c.982T>A (p.Ser328Thr)	HJV (S102T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874084	NM_213653.4(HJV):c.977G>A (p.Arg326Gln)	HJV (R213Q +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GUncertain significance
Select item 2366	NM_213653.4(HJV):c.976C>T (p.Arg326Ter)	HJV (R326* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1410522	NM_213653.4(HJV):c.964C>A (p.Pro322Thr)	HJV (P96T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733978	NM_213653.4(HJV):c.962_963delinsAA (p.Cys321Ter)	HJV (C208* +2 more)	Indel (nonsense)	not provided	GPathogenic
Select item 2371	NM_213653.4(HJV):c.963C>A (p.Cys321Ter)	HJV (C321* +2 more)	Single nucleotide variant (nonsense)	Hemochromatosis type 2A +1 more	GPathogenic
Select item 2733977	NM_213653.4(HJV):c.960dup (p.Cys321fs)	HJV (C208fs +2 more)	Duplication (frameshift variant)	Hemochromatosis type 2A +1 more	GPathogenic
Select item 1670043	NM_213653.4(HJV):c.960G>C (p.Gly320=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126897	NM_213653.4(HJV):c.960G>T (p.Gly320=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1097833	NM_213653.4(HJV):c.960G>A (p.Gly320=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 3106095	NM_213653.4(HJV):c.956G>C (p.Gly319Ala)	HJV (G206A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 694655	NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)	HJV (C204Y +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +2 more	GConflicting classifications of pathogenicity
Select item 1529257	NM_213653.4(HJV):c.942G>A (p.Leu314=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578062	NM_213653.4(HJV):c.940C>T (p.Leu314=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011379	NM_213653.4(HJV):c.934C>T (p.Gln312Ter)	HJV (Q199* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 292430	NM_213653.4(HJV):c.929C>G (p.Ala310Gly)	HJV (A310G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1390193	NM_213653.4(HJV):c.919del (p.Ala307fs)	HJV (A194fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1079215	NM_213653.4(HJV):c.915C>T (p.Ala305=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088208	NM_213653.4(HJV):c.906G>A (p.Glu302=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 658524	NM_213653.4(HJV):c.904G>A (p.Glu302Lys)	HJV (E189K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1428335	NM_213653.4(HJV):c.898del (p.Lys299_Val300insTer)	HJV	Deletion (nonsense)	not provided	GPathogenic
Select item 1623408	NM_213653.4(HJV):c.891C>T (p.Ser297=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452499	NM_213653.4(HJV):c.885del (p.Phe296fs)	HJV (F183fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 876889	NM_213653.4(HJV):c.885C>T (p.Ser295=)	HJV	Single nucleotide variant (synonymous variant)	Hemochromatosis type 2A +1 more	GConflicting classifications of pathogenicity
Select item 1150394	NM_213653.4(HJV):c.882C>T (p.Leu294=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633644	NM_213653.4(HJV):c.880C>T (p.Leu294Phe)	HJV (L181F +2 more)	Single nucleotide variant (missense variant)	HJV-related disorder	GUncertain significance
Select item 1151986	NM_213653.4(HJV):c.873T>C (p.Ala291=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106094	NM_213653.4(HJV):c.863G>A (p.Arg288Gln)	HJV (R288Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1985059	NM_213653.4(HJV):c.862C>T (p.Arg288Trp)	HJV (R62W +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A +1 more	GConflicting classifications of pathogenicity
Select item 2368	NM_213653.4(HJV):c.842T>C (p.Ile281Thr)	HJV (I281T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 876888	NM_213653.4(HJV):c.841A>T (p.Ile281Phe)	HJV (I168F +2 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 2A	GUncertain significance
Select item 1543695	NM_213653.4(HJV):c.831A>G (p.Gln277=)	HJV	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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