ClinVar for MedGen (Select 340044) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 224

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022781	NM_014585.6(SLC40A1):c.515-15C>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 3017357	NM_014585.6(SLC40A1):c.1225C>G (p.Arg409Gly)	SLC40A1 (R409G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 3016771	NM_014585.6(SLC40A1):c.388-3T>C	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GUncertain significance
Select item 3015363	NM_014585.6(SLC40A1):c.1047A>G (p.Ser349=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2980593	NM_014585.6(SLC40A1):c.484G>A (p.Val162Ile)	SLC40A1 (V162I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2978528	NM_014585.6(SLC40A1):c.44-20C>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2975559	NM_014585.6(SLC40A1):c.1298C>T (p.Ser433Phe)	SLC40A1 (S433F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2969972	NM_014585.6(SLC40A1):c.471T>C (p.Asp157=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2966149	NM_014585.6(SLC40A1):c.388-16dup	SLC40A1	Duplication (intron variant)	Hemochromatosis type 4	GBenign
Select item 2958696	NM_014585.6(SLC40A1):c.562G>A (p.Ala188Thr)	SLC40A1 (A188T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2958686	NM_014585.6(SLC40A1):c.760+11C>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2958080	NM_014585.6(SLC40A1):c.779T>C (p.Leu260Pro)	SLC40A1 (L260P)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2912879	NM_014585.6(SLC40A1):c.387+12A>G	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2912552	NM_014585.6(SLC40A1):c.321A>C (p.Gly107=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2910735	NM_014585.6(SLC40A1):c.1383C>T (p.Gly461=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2906713	NM_014585.6(SLC40A1):c.761-14T>C	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2904800	NM_014585.6(SLC40A1):c.1403-13T>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2901066	NM_014585.6(SLC40A1):c.514+16C>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2898011	NM_014585.6(SLC40A1):c.690C>T (p.Thr230=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2897466	NM_014585.6(SLC40A1):c.846T>C (p.Pro282=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2893340	NM_014585.6(SLC40A1):c.291G>A (p.Val97=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2890587	NM_014585.6(SLC40A1):c.1588T>C (p.Phe530Leu)	SLC40A1 (F530L)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2888963	NM_014585.6(SLC40A1):c.525C>T (p.Ala175=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2881197	NM_014585.6(SLC40A1):c.930T>C (p.Ala310=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2863529	NM_014585.6(SLC40A1):c.993C>T (p.Tyr331=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2852583	NM_014585.6(SLC40A1):c.1403-14dup	SLC40A1	Duplication (intron variant)	Hemochromatosis type 4	GBenign
Select item 2834733	NM_014585.6(SLC40A1):c.888A>T (p.Arg296=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2802868	NM_014585.6(SLC40A1):c.1425T>C (p.Thr475=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2799326	NM_014585.6(SLC40A1):c.515-4C>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2772557	NM_014585.6(SLC40A1):c.145T>C (p.Phe49Leu)	SLC40A1 (F49L)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2761379	NM_014585.6(SLC40A1):c.1006G>A (p.Gly336Arg)	SLC40A1 (G336R)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2757827	NM_014585.6(SLC40A1):c.135G>A (p.Ala45=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2740345	NM_014585.6(SLC40A1):c.44-10_44-9del	SLC40A1	Microsatellite (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2740314	NM_014585.6(SLC40A1):c.514+20T>C	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2734595	NM_014585.6(SLC40A1):c.736T>C (p.Leu246=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2731895	NM_014585.6(SLC40A1):c.271+14_271+15insTA	SLC40A1	Insertion (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2731893	NM_014585.6(SLC40A1):c.271+16T>C	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2718079	NM_014585.6(SLC40A1):c.743A>T (p.Gln248Leu)	SLC40A1 (Q248L)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 2712885	NM_014585.6(SLC40A1):c.761-19T>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2706290	NM_014585.6(SLC40A1):c.112-19T>C	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2690012	NM_014585.6(SLC40A1):c.373C>T (p.His125Tyr)	SLC40A1 (H125Y)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2580954	NM_014585.6(SLC40A1):c.977G>A (p.Cys326Tyr)	SLC40A1 (C326Y)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GPathogenic
Select item 2535420	NM_014585.6(SLC40A1):c.652G>A (p.Val218Met)	SLC40A1 (V218M)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2203235	NM_014585.6(SLC40A1):c.977G>T (p.Cys326Phe)	SLC40A1 (C326F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely pathogenic
Select item 2200458	NM_014585.6(SLC40A1):c.212C>G (p.Ser71Cys)	SLC40A1 (S71C)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2186002	NM_014585.6(SLC40A1):c.1660G>A (p.Gly554Ser)	SLC40A1 (G554S)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GUncertain significance
Select item 2183992	NM_014585.6(SLC40A1):c.44-10G>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2157717	NM_014585.6(SLC40A1):c.1191C>T (p.Pro397=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2096267	NM_014585.6(SLC40A1):c.831A>G (p.Glu277=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2072772	NM_014585.6(SLC40A1):c.760+15A>G	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 2057589	NM_014585.6(SLC40A1):c.657G>A (p.Glu219=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2047852	NM_014585.6(SLC40A1):c.979A>G (p.Ile327Val)	SLC40A1 (I327V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2046732	NM_014585.6(SLC40A1):c.292G>T (p.Val98Leu)	SLC40A1 (V98L)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2046640	NM_014585.6(SLC40A1):c.1038G>C (p.Met346Ile)	SLC40A1 (M346I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2038353	NM_014585.6(SLC40A1):c.1111C>T (p.Arg371Trp)	SLC40A1 (R371W)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 2032066	NM_014585.6(SLC40A1):c.564C>T (p.Ala188=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2029389	NM_014585.6(SLC40A1):c.1005G>A (p.Gln335=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 2025288	NM_014585.6(SLC40A1):c.532C>G (p.Arg178Gly)	SLC40A1 (R178G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 2018321	NM_014585.6(SLC40A1):c.611G>A (p.Gly204Asp)	SLC40A1 (G204D)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1991708	NM_014585.6(SLC40A1):c.294A>G (p.Val98=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1986499	NM_014585.6(SLC40A1):c.1569C>G (p.Leu523=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1979467	NM_014585.6(SLC40A1):c.1248G>A (p.Glu416=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1975367	NM_014585.6(SLC40A1):c.387+20C>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GBenign
Select item 1966442	NM_014585.6(SLC40A1):c.25C>G (p.Arg9Gly)	SLC40A1 (R9G)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1958569	NM_014585.6(SLC40A1):c.957G>A (p.Met319Ile)	SLC40A1 (M319I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1913239	NM_014585.6(SLC40A1):c.651C>T (p.Cys217=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1711522	NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys)	SLC40A1 (G80C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683663	NM_014585.6(SLC40A1):c.1606A>T (p.Ile536Phe)	SLC40A1 (I536F)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1664181	NM_014585.6(SLC40A1):c.585T>C (p.Ile195=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GBenign
Select item 1647177	NM_014585.6(SLC40A1):c.1251A>G (p.Ser417=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1625986	NM_014585.6(SLC40A1):c.39C>T (p.Cys13=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1622353	NM_014585.6(SLC40A1):c.1119T>A (p.Gly373=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1620535	NM_014585.6(SLC40A1):c.271+10G>A	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 1590048	NM_014585.6(SLC40A1):c.6C>G (p.Thr2=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1575805	NM_014585.6(SLC40A1):c.1395T>C (p.Ala465=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1568797	NM_014585.6(SLC40A1):c.1380A>G (p.Ala460=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1565723	NM_014585.6(SLC40A1):c.660C>T (p.Tyr220=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1563752	NM_014585.6(SLC40A1):c.1572A>G (p.Val524=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1534147	NM_014585.6(SLC40A1):c.387+8C>G	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 1529170	NM_014585.6(SLC40A1):c.776C>A (p.Pro259His)	SLC40A1 (P259H)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 1446802	NM_014585.6(SLC40A1):c.1295T>C (p.Met432Thr)	SLC40A1 (M432T)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1422731	NM_014585.6(SLC40A1):c.119G>A (p.Arg40Gln)	SLC40A1 (R40Q)	Single nucleotide variant (missense variant)	Hemochromatosis type 4 +1 more	GUncertain significance
Select item 1413675	NM_014585.6(SLC40A1):c.629G>C (p.Gly210Ala)	SLC40A1 (G210A)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1403930	NM_014585.6(SLC40A1):c.1051A>G (p.Ile351Val)	SLC40A1 (I351V)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GUncertain significance
Select item 1364943	NM_014585.6(SLC40A1):c.1602C>A (p.Gly534=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1333140	NM_014585.6(SLC40A1):c.388-38C>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GBenign
Select item 1209854	NM_014585.6(SLC40A1):c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422delinsValArgLeuThrArgThrValTer)	SLC40A1	Insertion (nonsense)	Hemochromatosis type 4	GLikely pathogenic
Select item 1209853	NM_014585.6(SLC40A1):c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ser417_Ile418insThrArgThrValTer)	SLC40A1	Insertion (nonsense +1 more)	Hemochromatosis type 4	GLikely pathogenic
Select item 1166016	NM_014585.6(SLC40A1):c.44-24G>C	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4 +1 more	GBenign
Select item 1157432	NM_014585.6(SLC40A1):c.515-9C>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign
Select item 1139267	NM_014585.6(SLC40A1):c.1371G>A (p.Leu457=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1138112	NM_014585.6(SLC40A1):c.1131A>C (p.Gly377=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1134330	NM_014585.6(SLC40A1):c.1256C>T (p.Thr419Ile)	SLC40A1 (T419I)	Single nucleotide variant (missense variant)	Hemochromatosis type 4	GLikely benign
Select item 1115788	NM_014585.6(SLC40A1):c.396C>T (p.Cys132=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1115778	NM_014585.6(SLC40A1):c.138G>A (p.Val46=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1114474	NM_014585.6(SLC40A1):c.327C>A (p.Ile109=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1110450	NM_014585.6(SLC40A1):c.877C>T (p.Arg293Cys)	SLC40A1 (R293C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1100073	NM_014585.6(SLC40A1):c.72A>G (p.Ala24=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1092324	NM_014585.6(SLC40A1):c.825G>A (p.Glu275=)	SLC40A1	Single nucleotide variant (synonymous variant)	Hemochromatosis type 4	GLikely benign
Select item 1083111	NM_014585.6(SLC40A1):c.44-4G>T	SLC40A1	Single nucleotide variant (intron variant)	Hemochromatosis type 4	GLikely benign

<< First< Prev

Page of 3