ClinVar for Gene (Select 7036) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 991

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068271	NM_003227.4(TFR2):c.1316G>A (p.Gly439Glu)	TFR2 (G268E +1 more)	Single nucleotide variant (missense variant)	Hemochromatosis type 3	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 3045581	NM_003227.4(TFR2):c.403C>G (p.Leu135Val)	TFR2 (L135V)	Single nucleotide variant (missense variant)	TFR2-related condition	GUncertain significance
Select item 3036074	NM_003227.4(TFR2):c.819_849+2dup	TFR2	Duplication (splice donor variant)	TFR2-related condition	GLikely benign
Select item 3023875	NM_003227.4(TFR2):c.1767+16C>T	TFR2	Single nucleotide variant (intron 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 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 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 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 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 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 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 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 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 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 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 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 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 2957862	NM_003227.4(TFR2):c.1887C>G (p.Leu629=)	TFR2	Single nucleotide variant (synonymous 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 2919442	NM_003227.4(TFR2):c.726+8C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
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 2912932	NM_003227.4(TFR2):c.1538-18C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2912830	NM_003227.4(TFR2):c.1605+7G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2911499	NM_003227.4(TFR2):c.727-5C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2911461	NM_003227.4(TFR2):c.2100G>A (p.Glu700=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2911136	NM_003227.4(TFR2):c.286+16C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2911069	NM_003227.4(TFR2):c.441C>T (p.Phe147=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2910903	NM_003227.4(TFR2):c.1537+14G>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2910504	NM_003227.4(TFR2):c.1768-8C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2909925	NM_003227.4(TFR2):c.2137-14C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2908999	NM_003227.4(TFR2):c.1584C>T (p.Leu528=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2907654	NM_003227.4(TFR2):c.1473+11del	TFR2	Deletion (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2907018	NM_003227.4(TFR2):c.2052G>A (p.Ala684=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2906605	NM_003227.4(TFR2):c.726+16C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2906127	NM_003227.4(TFR2):c.2137-12C>G	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2905227	NM_003227.4(TFR2):c.727-10G>A	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2904932	NM_003227.4(TFR2):c.286+18C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2904855	NM_003227.4(TFR2):c.1538-13_1538-9del	TFR2	Microsatellite (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2904851	NM_003227.4(TFR2):c.1682+10G>C	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2904432	NM_003227.4(TFR2):c.2103A>G (p.Arg701=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2903083	NM_003227.4(TFR2):c.286+11T>C	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2901603	NM_003227.4(TFR2):c.444G>C (p.Leu148=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2901545	NM_003227.4(TFR2):c.2007G>A (p.Leu669=)	LOC113687175, TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2901296	NM_003227.4(TFR2):c.966+13A>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2899761	NM_003227.4(TFR2):c.1767+13C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2899329	NM_003227.4(TFR2):c.7C>A (p.Arg3=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign
Select item 2898316	NM_003227.4(TFR2):c.1537+18C>T	TFR2	Single nucleotide variant (intron variant)	Hereditary hemochromatosis	GLikely benign
Select item 2896141	NM_003227.4(TFR2):c.2233C>T (p.Leu745=)	TFR2	Single nucleotide variant (synonymous variant)	Hereditary hemochromatosis	GLikely benign

<< First< Prev

Page of 10