ClinVar for MedGen (Select 140926) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068048	NM_004836.7(EIF2AK3):c.3071A>C (p.Gln1024Pro)	EIF2AK3, LOC101928371 (Q1024P +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2689010	NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)	EIF2AK3, LOC101928371 (S1098* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2675025	NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs)	EIF2AK3 (L200fs +1 more)	Microsatellite (frameshift variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675024	NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter)	EIF2AK3 (W370* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GPathogenic
Select item 2675023	NM_004836.7(EIF2AK3):c.439del	EIF2AK3	Deletion	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675022	NM_004836.7(EIF2AK3):c.1306+1G>C	EIF2AK3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2675021	NM_004836.7(EIF2AK3):c.1306+1G>A	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675020	NM_004836.7(EIF2AK3):c.3088-1G>C	EIF2AK3, LOC101928371	Single nucleotide variant (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675019	NM_004836.7(EIF2AK3):c.1886+2T>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675018	NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)	EIF2AK3, LOC101928371 (E759fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GPathogenic
Select item 2675017	NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter)	EIF2AK3, LOC101928371 (Q813* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675016	NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)	EIF2AK3, LOC101928371 (E559* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675015	NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys)	EIF2AK3, LOC101928371 (Y839C +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675014	NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs)	EIF2AK3, LOC101928371 (I558fs +1 more)	Deletion (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675013	NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs)	EIF2AK3 (A376fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675012	NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter)	EIF2AK3 (W224* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675011	NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer)	EIF2AK3, LOC101928371	Deletion (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675010	NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)	EIF2AK3 (R487* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2675009	NM_004836.7(EIF2AK3):c.1002+2T>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2675008	NM_004836.7(EIF2AK3):c.1002+1G>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2584553	NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)	EIF2AK3, LOC101928371 (V1034I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2203113	NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)	EIF2AK3 (R482W +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1651279	NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=)	EIF2AK3	Single nucleotide variant (synonymous variant)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1609713	NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1606377	NM_004836.7(EIF2AK3):c.633+15T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1554618	NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1524407	NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val)	EIF2AK3 (A29V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1518515	NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile)	EIF2AK3 (T177I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1516440	NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala)	EIF2AK3 (T110A)	Single nucleotide variant (5 prime UTR variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1513107	NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr)	EIF2AK3 (M169T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1511720	NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr)	EIF2AK3, LOC101928371 (S570Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1509646	NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg)	EIF2AK3 (G35R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1497271	NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del)	EIF2AK3 (D366del +1 more)	Microsatellite (inframe_deletion)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1496613	NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile)	EIF2AK3 (T494I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1463386	NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys)	EIF2AK3, LOC101928371 (R569K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1443323	NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val)	EIF2AK3 (L480V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1438494	NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del)	EIF2AK3, LOC101928371 (S849del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1432662	NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile)	EIF2AK3 (V375I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1432281	NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser)	EIF2AK3, LOC101928371 (I996S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1426106	NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys)	EIF2AK3, LOC101928371 (R547C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1415353	NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly)	EIF2AK3 (S259G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1401561	NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs)	EIF2AK3, LOC101928371 (L1018fs +1 more)	Duplication (frameshift variant)	Wolcott-Rallison dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1400543	NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val)	EIF2AK3 (M171V +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1400140	NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg)	EIF2AK3, LOC101928371 (C904R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1392156	NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His)	EIF2AK3 (R541H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1377842	NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1376027	NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn)	EIF2AK3, LOC101928371 (S1096N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1368071	NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly)	EIF2AK3 (R625G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1364029	NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val)	EIF2AK3 (I305V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1345915	NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr)	EIF2AK3 (I374T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336544	NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg)	EIF2AK3, LOC101928371 (H677R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1179141	NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs)	EIF2AK3 (L495fs +1 more)	Deletion (frameshift variant)	Wolcott-Rallison dysplasia	GPathogenic
Select item 1175193	NM_004836.7(EIF2AK3):c.12del (p.Ile5fs)	EIF2AK3 (I5fs)	Deletion (frameshift variant)	Wolcott-Rallison dysplasia	GPathogenic
Select item 1175192	NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys)	EIF2AK3 (Y214C +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 1148135	NM_004836.7(EIF2AK3):c.441A>G (p.Val147=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1125747	NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1117258	NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=)	EIF2AK3	Single nucleotide variant (5 prime UTR variant +1 more)	Wolcott-Rallison dysplasia +1 more	GLikely benign
Select item 1100911	NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1044324	NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile)	EIF2AK3 (T131I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1035692	NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser)	EIF2AK3 (N628S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1028303	NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser)	EIF2AK3, LOC101928371 (T1032S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 1028302	NM_004836.7(EIF2AK3):c.1764-2A>G	EIF2AK3	Single nucleotide variant (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 1028301	NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile)	EIF2AK3 (T362I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 1017466	NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val)	EIF2AK3 (A271V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1004857	NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser)	EIF2AK3 (N135S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 1000702	NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly)	EIF2AK3 (D306G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 998661	NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val)	EIF2AK3, LOC101928371 (E621V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 993018	NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs)	EIF2AK3 (K362fs +1 more)	Deletion (frameshift variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 917440	NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val)	EIF2AK3 (A50V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 898646	NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys)	EIF2AK3 (R246K +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 898645	NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898595	NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg)	EIF2AK3, LOC101928371 (M783R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 898594	NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr)	EIF2AK3, LOC101928371 (A828T +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 898593	NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys)	EIF2AK3, LOC101928371 (N1074K +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 898592	NM_004836.7(EIF2AK3):c.*99C>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 898591	NM_004836.7(EIF2AK3):c.*104A>C	LOC101928371, EIF2AK3	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897492	NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr)	EIF2AK3 (S286Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897491	NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn)	EIF2AK3 (D351N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897428	NM_004836.7(EIF2AK3):c.*340A>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897427	NM_004836.7(EIF2AK3):c.*356A>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897426	NM_004836.7(EIF2AK3):c.*408T>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897425	NM_004836.7(EIF2AK3):c.*712C>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897080	NM_004836.7(EIF2AK3):c.-10C>T	EIF2AK3	Single nucleotide variant (5 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897079	NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg)	EIF2AK3 (L18R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897012	NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg)	EIF2AK3 (S425R +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897011	NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895666	NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His)	EIF2AK3 (R34H)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 895665	NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile)	EIF2AK3 (T71I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895664	NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu)	EIF2AK3 (P79L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 895604	NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu)	EIF2AK3, LOC101928371 (K672E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 807600	NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)	EIF2AK3, LOC101928371 (R752* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 786862	NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 741968	NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp)	EIF2AK3 (E302D +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GBenign/Likely benign
Select item 731163	NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His)	EIF2AK3, LOC101928371 (Q611H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EIF2AK3-related condition +2 more	GLikely benign
Select item 727543	NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr)	EIF2AK3 (A271T +1 more)	Single nucleotide variant (missense variant)	EIF2AK3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 717265	NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 522521	NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His)	EIF2AK3 (R168H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 502654	NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala)	LOC101928371, EIF2AK3 (P702A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 435051	NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter)	EIF2AK3, LOC101928371 (Q920* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Wolcott-Rallison dysplasia	GPathogenic
Select item 435050	NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val)	EIF2AK3, LOC101928371 (M975V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

<< First< Prev

Page of 2