ClinVar for Gene (Select 3077) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233283	NM_000410.4(HFE):c.976T>A (p.Phe326Ile)	HFE (F146I +9 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 1	GUncertain significance
Select item 3105612	NM_000410.4(HFE):c.895C>A (p.Pro299Thr)	HFE (P207T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105611	NM_000410.4(HFE):c.344C>G (p.Ser115Cys)	HFE (S27C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075867	NM_000410.4(HFE):c.616+1G>A	HFE	Single nucleotide variant (splice donor variant +1 more)	Juvenile hemochromatosis	GLikely pathogenic
Select item 3061479	NM_000410.4(HFE):c.17G>C (p.Arg6Thr)	HFE, HFE-AS1 (R6T)	Single nucleotide variant (non-coding transcript variant +1 more)	HFE-related condition	GUncertain significance
Select item 3025856	NM_000410.4(HFE):c.580T>C (p.Leu194=)	HFE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020388	NM_000410.4(HFE):c.876C>T (p.Pro292=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 3017513	NM_000410.4(HFE):c.568C>T (p.Gln190Ter)	HFE (Q167* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 3010157	NM_000410.4(HFE):c.76+20G>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 3007618	NM_000410.4(HFE):c.893-1G>C	HFE	Single nucleotide variant (splice acceptor variant)	Hereditary hemochromatosis	GLikely pathogenic
Select item 3006063	NM_000410.4(HFE):c.129T>G (p.Gly43=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 3002726	NM_000410.4(HFE):c.1007-8C>T	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2989106	NM_000410.4(HFE):c.616+15C>T	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2976122	NM_000410.4(HFE):c.957C>T (p.Ile319=)	HFE	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2975965	NM_000410.4(HFE):c.54G>C (p.Ala18=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2973312	NM_000410.4(HFE):c.669A>G (p.Leu223=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2968080	NM_000410.4(HFE):c.912C>G (p.Thr304=)	HFE	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2962260	NM_000410.4(HFE):c.610C>T (p.Gln204Ter)	HFE (Q181* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2961876	NM_000410.4(HFE):c.199C>T (p.Arg67Cys)	HFE, HFE-AS1 (R67C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely pathogenic
Select item 2956279	NM_000410.4(HFE):c.340+19T>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2955958	NM_000410.4(HFE):c.1006+17G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2920129	NM_000410.4(HFE):c.76+17C>T	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2920024	NM_000410.4(HFE):c.99C>T (p.Leu33=)	HFE-AS1, HFE	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 2919418	NM_000410.4(HFE):c.616+9G>T	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2919212	NM_000410.4(HFE):c.679G>C (p.Ala227Pro)	HFE (A135P +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2911039	NM_000410.4(HFE):c.675T>C (p.Cys225=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2910536	NM_000410.4(HFE):c.965T>C (p.Ile322Thr)	HFE (I216T +9 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GUncertain significance
Select item 2906991	NM_000410.4(HFE):c.951C>T (p.Val317=)	HFE	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2906418	NM_000410.4(HFE):c.77-5T>C	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2904697	NM_000410.4(HFE):c.819C>T (p.Pro273=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2889068	NM_000410.4(HFE):c.341-17G>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2887156	NM_000410.4(HFE):c.616+13C>T	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2876725	NM_000410.4(HFE):c.742G>A (p.Ala248Thr)	HFE (A156T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2860914	NM_000410.4(HFE):c.667C>T (p.Leu223=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2837089	NM_000410.4(HFE):c.712A>T (p.Lys238Ter)	HFE (K136* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2836179	NM_000410.4(HFE):c.585G>A (p.Leu195=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2829150	NM_000410.4(HFE):c.663C>A (p.Thr221=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2826449	NM_000410.4(HFE):c.1006+9del	HFE	Deletion (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2822995	NM_000410.4(HFE):c.123C>T (p.Asp41=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 2820287	NM_000410.4(HFE):c.693C>T (p.Tyr231=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2819902	NM_000410.4(HFE):c.314T>G (p.Ile105Ser)	HFE (I82S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2816744	NM_000410.4(HFE):c.76+20G>A	HFE, HFE-AS1	Single nucleotide variant (intron variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2803829	NM_000410.4(HFE):c.546C>A (p.Tyr182Ter)	HFE (Y182* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2793480	NM_000410.4(HFE):c.1006+19del	HFE	Deletion (intron variant)	Hereditary hemochromatosis	GBenign
Select item 2785990	NM_000410.4(HFE):c.604T>C (p.Leu202=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2782344	NM_000410.4(HFE):c.432C>T (p.Asp144=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2770771	NM_000410.4(HFE):c.720_726dup (p.Lys243delinsGluGlyTer)	HFE	Duplication (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2751130	NM_000410.4(HFE):c.840T>A (p.Tyr280Ter)	HFE (Y100* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2741034	NM_000410.4(HFE):c.861A>G (p.Pro287=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2737856	NM_000410.4(HFE):c.341-4C>G	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2733503	NM_000410.4(HFE):c.486C>G (p.Ala162=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2732116	NM_000410.4(HFE):c.617-11T>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2731394	NM_000410.4(HFE):c.76+13G>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2730781	NM_000410.4(HFE):c.1035T>A (p.Ala345=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2730214	NM_000410.4(HFE):c.341-11G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2718960	NM_000410.4(HFE):c.492C>T (p.Pro164=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2717889	NM_000410.4(HFE):c.279G>C (p.Gly93=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2710835	NM_000410.4(HFE):c.663del (p.Thr222fs)	HFE (T120fs +8 more)	Deletion (frameshift variant +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2700800	NM_000410.4(HFE):c.616+18T>G	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2696029	NM_000410.4(HFE):c.76+12G>A	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2692107	NM_000410.4(HFE):c.622C>G (p.Pro208Ala)	HFE (P120A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2656295	NM_000410.4(HFE):c.579G>A (p.Gln193=)	HFE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637855	NM_000410.4(HFE):c.814G>A (p.Val272Ile)	HFE (V166I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581308	NM_000410.4(HFE):c.617-8_617-4del	HFE	Deletion (intron variant)	not specified	GUncertain significance
Select item 2575054	NM_000410.4(HFE):c.340+1G>A	HFE	Single nucleotide variant (splice donor variant +1 more)	Hemochromatosis type 1	GLikely pathogenic
Select item 2544636	NM_000410.4(HFE):c.397G>A (p.Glu133Lys)	HFE (E110K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539469	NM_000410.4(HFE):c.887T>C (p.Ile296Thr)	HFE (I204T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2506193	NM_000410.4(HFE):c.814G>T (p.Val272Leu)	HFE (V166L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498999	NM_000410.4(HFE):c.*170C>G	HFE	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2490949	NM_000410.4(HFE):c.110C>T (p.Ala37Val)	HFE, HFE-AS1 (A37V)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486980	NM_000410.4(HFE):c.217C>G (p.Pro73Ala)	HFE, HFE-AS1 (P73A +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2445854	NM_000410.4(HFE):c.282_283delinsTC (p.Trp94_Asp95delinsCysHis)	HFE	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 2445853	NM_000410.4(HFE):c.282G>T (p.Trp94Cys)	HFE (W71C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432449	NM_000410.4(HFE):c.202G>A (p.Val68Met)	HFE, HFE-AS1 (V45M +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Hemochromatosis type 1	GUncertain significance
Select item 2429149	NM_000410.4(HFE):c.145G>T (p.Ala49Ser)	HFE, HFE-AS1 (A49S)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2379363	NM_000410.4(HFE):c.677G>A (p.Arg226Gln)	HFE (R138Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2321224	NM_000410.4(HFE):c.633G>C (p.Lys211Asn)	HFE (K123N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290097	NM_000410.4(HFE):c.320A>G (p.Glu107Gly)	HFE (E107G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272309	NM_000410.4(HFE):c.896C>A (p.Pro299His)	HFE (P285H +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272308	NM_000410.4(HFE):c.692A>G (p.Tyr231Cys)	HFE (Y125C +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242147	NM_000410.4(HFE):c.479C>G (p.Pro160Arg)	HFE (P160R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2199175	NM_000410.4(HFE):c.832C>T (p.Gln278Ter)	HFE (Q176* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2186962	NM_000410.4(HFE):c.759T>A (p.Pro253=)	HFE	Single nucleotide variant (intron variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2185300	NM_000410.4(HFE):c.780G>A (p.Gly260=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2168637	NM_000410.4(HFE):c.24G>C (p.Ala8=)	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2163492	NM_000410.4(HFE):c.893-8T>C	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2161977	NM_000410.4(HFE):c.340+12G>A	HFE	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2154372	NM_000410.4(HFE):c.525G>A (p.Arg175=)	HFE	Single nucleotide variant (intron variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2152189	NM_000410.4(HFE):c.548T>C (p.Leu183Pro)	HFE (L183P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2138513	NM_000410.4(HFE):c.278G>T (p.Gly93Val)	HFE (G93V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2128898	NM_000410.4(HFE):c.582G>A (p.Leu194=)	HFE	Single nucleotide variant (synonymous variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2126877	NM_000410.4(HFE):c.760A>T (p.Lys254Ter)	HFE (K251* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2110705	NM_000410.4(HFE):c.1002T>C (p.Gly334=)	HFE	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2105122	NM_000410.4(HFE):c.201T>C (p.Arg67=)	HFE, HFE-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary hemochromatosis	GLikely benign
Select item 2083206	NM_000410.4(HFE):c.76+15T>G	HFE, HFE-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GLikely benign
Select item 2070671	NM_000410.4(HFE):c.23C>T (p.Ala8Val)	HFE, HFE-AS1 (A8V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary hemochromatosis	GUncertain significance
Select item 2070248	NM_000410.4(HFE):c.727A>G (p.Lys243Glu)	HFE (K151E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054741	NM_000410.4(HFE):c.616+1G>T	HFE	Single nucleotide variant (splice donor variant +1 more)	Hereditary hemochromatosis	GPathogenic
Select item 2048531	NM_000410.4(HFE):c.1015_1016insG (p.Met339fs)	HFE (M159fs +9 more)	Insertion (frameshift variant +1 more)	Hereditary hemochromatosis	GUncertain significance

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