ClinVar for OMIM (Select 235200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064055	NM_078471.4(MYO18A):c.448G>A (p.Ala150Thr)	MYO18A (A150T)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	Gnot provided
Select item 3023875	NM_003227.4(TFR2):c.1767+16C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3021521	NM_021175.4(HAMP):c.151-7C>T	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3021339	NM_021175.4(HAMP):c.36C>A (p.Leu12=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3020654	NM_003227.4(TFR2):c.2256C>T (p.Arg752=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3020498	NM_003227.4(TFR2):c.473+17C>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3020421	NM_003227.4(TFR2):c.249C>G (p.Pro83=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	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 3020215	NM_003227.4(TFR2):c.1942del (p.Asp648fs)	TFR2 (D477fs +1 more)	Deletion (frameshift variant)	Hereditary hemochromatosis	GPathogenic
Select item 3019970	NM_003227.4(TFR2):c.1288G>C (p.Gly430Arg)	TFR2 (G259R +1 more)	Single nucleotide variant (missense variant)	Hereditary hemochromatosis	GPathogenic
Select item 3019582	NM_003227.4(TFR2):c.614+17G>A	LOC129998967, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3018861	NM_003227.4(TFR2):c.1938C>G (p.Tyr646Ter)	TFR2 (Y646* +1 more)	Single nucleotide variant (nonsense)	Hereditary hemochromatosis	GPathogenic
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 3016985	NM_003227.4(TFR2):c.967-15C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3016980	NM_003227.4(TFR2):c.727-11C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3016602	NM_003227.4(TFR2):c.1270+12G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3015707	NM_003227.4(TFR2):c.594G>T (p.Val198=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3015378	NM_021175.4(HAMP):c.207C>T (p.Cys69=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3015235	NM_003227.4(TFR2):c.1962C>T (p.Ile654=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3015213	NM_003227.4(TFR2):c.287-4C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3014058	NM_003227.4(TFR2):c.225G>T (p.Ala75=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3014047	NM_003227.4(TFR2):c.2334G>A (p.Leu778=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3013755	NM_003227.4(TFR2):c.1132dup (p.Gln378fs)	TFR2 (Q207fs +1 more)	Duplication (frameshift variant)	Hereditary hemochromatosis	GPathogenic
Select item 3013631	NM_003227.4(TFR2):c.2046C>T (p.Ile682=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3013566	NM_003227.4(TFR2):c.1537+11G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3012190	NM_003227.4(TFR2):c.286+14C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3011433	NM_003227.4(TFR2):c.2137-12C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3011391	NM_021175.4(HAMP):c.54C>G (p.Leu18=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 3009225	NM_003227.4(TFR2):c.142T>C (p.Leu48=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3008470	NM_003227.4(TFR2):c.1682+14dup	TFR2	Duplication (intron variant)	Hereditary hemochromatosis	GBenign
Select item 3008301	NM_021175.4(HAMP):c.21C>A (p.Ile7=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 3008271	NM_021175.4(HAMP):c.151-16C>G	HAMP	Single nucleotide variant (intron variant)	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 3007595	NM_003227.4(TFR2):c.473+14T>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3007571	NM_003227.4(TFR2):c.73del (p.Arg25fs)	TFR2 (R25fs)	Deletion (frameshift variant)	Hereditary hemochromatosis	GPathogenic
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 3005850	NM_003227.4(TFR2):c.2136+20G>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 3004868	NM_003227.4(TFR2):c.1473+11G>A	TFR2	Single nucleotide variant (intron variant)	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 3001743	NM_021175.4(HAMP):c.90+12G>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2998958	NM_021175.4(HAMP):c.90+17C>G	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2998470	NM_003227.4(TFR2):c.1608G>C (p.Val536=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2997925	NM_003227.4(TFR2):c.1391-1G>A	TFR2	Single nucleotide variant (splice acceptor variant)	Hereditary hemochromatosis	GLikely pathogenic
Select item 2993201	NM_003227.4(TFR2):c.34-11C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2992471	NM_003227.4(TFR2):c.967-12C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2992257	NM_003227.4(TFR2):c.1106+15G>A	TFR2	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 2987114	NM_003227.4(TFR2):c.2136+15T>C	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2986980	NM_003227.4(TFR2):c.2196C>A (p.Ile732=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2986098	NM_003227.4(TFR2):c.33+11T>C	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2985285	NM_003227.4(TFR2):c.1935C>T (p.Arg645=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2985144	NM_003227.4(TFR2):c.246C>A (p.Ala82=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2984637	NM_003227.4(TFR2):c.1538-11C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2982110	NM_003227.4(TFR2):c.1995+15C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2980073	NM_003227.4(TFR2):c.1683-11C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2978232	NM_021175.4(HAMP):c.91-17C>A	HAMP	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2978195	NM_003227.4(TFR2):c.849+20G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2977690	NM_003227.4(TFR2):c.1578A>G (p.Thr526=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2977663	NM_003227.4(TFR2):c.1746C>T (p.Ala582=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2977244	NM_003227.4(TFR2):c.1995+12C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2976349	NM_003227.4(TFR2):c.2025C>T (p.Tyr675=)	LOC113687175, TFR2	Single nucleotide variant (synonymous 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 2975756	NM_003227.4(TFR2):c.286+12C>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2974141	NM_003227.4(TFR2):c.850-17G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2973989	NM_003227.4(TFR2):c.684C>T (p.Asp228=)	TFR2	Single nucleotide variant (synonymous variant)	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 2971824	NM_003227.4(TFR2):c.614+18C>T	LOC129998967, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2971822	NM_003227.4(TFR2):c.2096_2100del (p.Asp699fs)	LOC113687175, TFR2 (D528fs +1 more)	Deletion (frameshift variant)	Hereditary hemochromatosis	GPathogenic
Select item 2968080	NM_000410.4(HFE):c.912C>G (p.Thr304=)	HFE	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2966688	NM_003227.4(TFR2):c.1271-8C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2964564	NM_003227.4(TFR2):c.264G>A (p.Thr88=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2963022	NM_003227.4(TFR2):c.1047A>G (p.Ser349=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2962934	NM_003227.4(TFR2):c.1606-13C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2962287	NM_003227.4(TFR2):c.1996-15G>A	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2962261	NM_003227.4(TFR2):c.1605+19T>C	TFR2	Single nucleotide variant (intron 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 2957862	NM_003227.4(TFR2):c.1887C>G (p.Leu629=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
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 2955107	NM_003227.4(TFR2):c.1996-10C>T	LOC113687175, TFR2	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 2919442	NM_003227.4(TFR2):c.726+8C>T	TFR2	Single nucleotide variant (intron variant)	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 2919076	NM_003227.4(TFR2):c.473+19C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2918968	NM_003227.4(TFR2):c.1106+12G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2916927	NM_003227.4(TFR2):c.614+20G>A	LOC129998967, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2916871	NM_003227.4(TFR2):c.1996-6C>T	LOC113687175, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2916407	NM_003227.4(TFR2):c.615-16C>T	LOC129998967, TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2915547	NM_003227.4(TFR2):c.1106+20C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2914117	NM_003227.4(TFR2):c.2137-13C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2913865	NM_003227.4(TFR2):c.33+17T>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2913531	NM_003227.4(TFR2):c.1606-15T>C	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2913372	NM_003227.4(TFR2):c.1537+12C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2913112	NM_021175.4(HAMP):c.45C>G (p.Leu15=)	HAMP	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2912932	NM_003227.4(TFR2):c.1538-18C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign

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