ClinVar for MedGen (Select 347037) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691460	NM_014239.4(EIF2B2):c.871C>T (p.Pro291Ser)	EIF2B2 (P291S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2691284	NM_003907.3(EIF2B5):c.1930G>T (p.Glu644Ter)	EIF2B5 (E644*)	Single nucleotide variant (nonsense)	Vanishing white matter disease	GPathogenic
Select item 2582342	NM_001034116.2(EIF2B4):c.10G>C (p.Val4Leu)	EIF2B4 (V4L)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 2581432	NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)	EIF2B5 (P454S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2581282	NM_001034116.2(EIF2B4):c.498+2_498+5del	EIF2B4	Deletion (splice donor variant)	Vanishing white matter disease	GLikely pathogenic
Select item 2444417	NM_003907.3(EIF2B5):c.1937T>C (p.Leu646Ser)	EIF2B5 (L646S)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2444340	NM_003907.3(EIF2B5):c.955T>C (p.Tyr319His)	EIF2B5 (Y319H)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2441991	NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val)	EIF2B5 (D62V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2203029	NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His)	EIF2B4, GTF3C2-AS2 (R251H +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 2097660	NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs)	EIF2B5 (K565fs)	Indel (frameshift variant)	Vanishing white matter disease +1 more	GPathogenic
Select item 1878526	NM_003907.3(EIF2B5):c.655C>G (p.Gln219Glu)	EIF2B5 (Q219E)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1806183	NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter)	EIF2B5 (R422*)	Single nucleotide variant (nonsense)	Vanishing white matter disease	GPathogenic
Select item 1805642	NM_014239.4(EIF2B2):c.1A>G (p.Met1Val)	EIF2B2 (M1V)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 1804795	NM_014239.4(EIF2B2):c.829C>T (p.Gln277Ter)	EIF2B2 (Q277*)	Single nucleotide variant (nonsense)	Vanishing white matter disease	GLikely pathogenic
Select item 1803175	NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)	EIF2B4, GTF3C2-AS2 (N225D +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1709121	NM_003907.3(EIF2B5):c.667C>T (p.Arg223Cys)	EIF2B5 (R223C)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1709120	NM_003907.3(EIF2B5):c.514C>T (p.Arg172Trp)	EIF2B5 (R172W)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1701797	NM_003907.3(EIF2B5):c.1484A>G (p.Tyr495Cys)	EIF2B5 (Y495C)	Single nucleotide variant (missense variant)	Ovarioleukodystrophy +1 more	Gnot provided
Select item 1699333	NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys)	EIF2B4 (G16C +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 1696337	NM_001034116.2(EIF2B4):c.32-1G>T	EIF2B4 (D32Y)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1691306	NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)	EIF2B3 (I229M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1685765	NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser)	EIF2B5 (G297S)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
Select item 1561773	NM_014239.4(EIF2B2):c.672C>T (p.Ala224=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1496820	NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu)	EIF2B3 (P24L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1372063	NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser)	EIF2B5, LOC129938041 (F57S)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 1332857	NM_003907.3(EIF2B5):c.2018T>C (p.Leu673Pro)	EIF2B5 (L673P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 1321404	NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val)	EIF2B5 (I385V)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 1285271	NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro)	EIF2B3 (R225P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
Select item 1210400	NM_003907.3(EIF2B5):c.2090del (p.Leu697fs)	EIF2B5 (L697fs)	Deletion (frameshift variant)	Vanishing white matter disease	GUncertain significance
Select item 1208981	NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)	EIF2B5 (P427L)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GPathogenic/Likely pathogenic
Select item 1205361	NM_014239.4(EIF2B2):c.285-1G>A	EIF2B2	Single nucleotide variant (splice acceptor variant)	Vanishing white matter disease +1 more	GLikely pathogenic
Select item 1199345	NM_003907.3(EIF2B5):c.1325C>T (p.Thr442Met)	EIF2B5 (T442M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1199344	NM_003907.3(EIF2B5):c.385C>G (p.Arg129Gly)	EIF2B5 (R129G)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1199343	NM_003907.3(EIF2B5):c.920C>T (p.Ser307Leu)	EIF2B5 (S307L)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1199342	NM_003907.3(EIF2B5):c.1723G>A (p.Val575Ile)	EIF2B5 (V575I)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 1184948	NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)	EIF2B5 (M305L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1161960	NM_003907.3(EIF2B5):c.600T>C (p.Asn200=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135415	NM_003907.3(EIF2B5):c.840G>A (p.Glu280=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112170	NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1033785	NM_001034116.2(EIF2B4):c.295G>A (p.Glu99Lys)	EIF2B4 (E119K +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 1032836	NM_020365.5(EIF2B3):c.442A>G (p.Lys148Glu)	EIF2B3 (K148E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030426	NM_001034116.2(EIF2B4):c.32-55C>T	EIF2B4 (P14S)	Single nucleotide variant (missense variant +2 more)	Vanishing white matter disease	GUncertain significance
Select item 1030309	NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter)	EIF2B2 (E32*)	Single nucleotide variant (nonsense)	Vanishing white matter disease	GPathogenic
Select item 1028674	NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter)	EIF2B5 (Y495*)	Single nucleotide variant (nonsense)	Vanishing white matter disease	GPathogenic
Select item 1027991	NM_001034116.2(EIF2B4):c.90A>C (p.Glu30Asp)	EIF2B4 (E30D +2 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 1018680	NM_003907.3(EIF2B5):c.858G>C (p.Gln286His)	EIF2B5 (Q286H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995942	NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)	EIF2B1 (R147*)	Single nucleotide variant (nonsense)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 992664	NM_001034116.2(EIF2B4):c.866G>T (p.Ser289Ile)	EIF2B4, GTF3C2-AS2 (S258I +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 989685	NM_003907.3(EIF2B5):c.1451A>G (p.Asn484Ser)	EIF2B5 (N484S)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 984939	NM_014239.4(EIF2B2):c.42del (p.Ile15fs)	EIF2B2 (I15fs)	Deletion (frameshift variant)	Vanishing white matter disease	GPathogenic
Select item 984938	NM_014239.4(EIF2B2):c.3G>A (p.Met1Ile)	EIF2B2 (M1I)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GLikely pathogenic
Select item 982930	NM_001414.4(EIF2B1):c.627G>C (p.Lys209Asn)	EIF2B1 (K209N)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 978266	NM_001034116.2(EIF2B4):c.551C>T (p.Pro184Leu)	EIF2B4 (P153L +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GLikely pathogenic
Select item 977721	NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter)	EIF2B2 (E304*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 976615	NM_003907.3(EIF2B5):c.134C>G (p.Ala45Gly)	EIF2B5, LOC129938041 (A45G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 976281	NM_003907.3(EIF2B5):c.812A>G (p.Asp271Gly)	EIF2B5 (D271G)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 975880	NM_004840.3(ARHGEF6):c.2080G>A (p.Glu694Lys)	ARHGEF6 (E540K +1 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 972716	NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro)	EIF2B3 (L168P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 942204	NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)	EIF2B5 (R269Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 932170	NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser)	EIF2B5 (F670S)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
Select item 931875	NM_001034116.2(EIF2B4):c.414dup (p.Ser139fs)	EIF2B4 (S108fs +5 more)	Duplication (frameshift variant +2 more)	Vanishing white matter disease	GLikely pathogenic
Select item 931047	NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val)	EIF2B5 (A2V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930635	NM_001034116.2(EIF2B4):c.138GAA[2] (p.Lys49del)	EIF2B4 (K70del +3 more)	Microsatellite (inframe_deletion +1 more)	Vanishing white matter disease +1 more	GUncertain significance
Select item 930179	NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)	ANKLE2 (R624*)	Single nucleotide variant (nonsense)	Microcephaly 16, primary, autosomal recessive +3 more	GPathogenic
Select item 915406	NM_001414.4(EIF2B1):c.524T>A (p.Val175Asp)	EIF2B1 (V175D)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 903245	NM_003907.3(EIF2B5):c.*136C>T	EIF2B5	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 903244	NM_003907.3(EIF2B5):c.*90T>C	EIF2B5	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 903243	NM_003907.3(EIF2B5):c.2107-12G>A	EIF2B5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902386	NM_003907.3(EIF2B5):c.1913G>A (p.Arg638His)	EIF2B5 (R638H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 902385	NM_003907.3(EIF2B5):c.1880C>T (p.Ala627Val)	EIF2B5 (A627V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 902384	NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe)	EIF2B5 (C571F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902383	NM_003907.3(EIF2B5):c.1709C>T (p.Ser570Phe)	EIF2B5 (S570F)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 900708	NM_003907.3(EIF2B5):c.1592A>G (p.Gln531Arg)	EIF2B5 (Q531R)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 900707	NM_003907.3(EIF2B5):c.684+3G>A	EIF2B5	Single nucleotide variant (intron variant)	Vanishing white matter disease	GUncertain significance
Select item 900706	NM_003907.3(EIF2B5):c.662T>C (p.Leu221Pro)	EIF2B5 (L221P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 899644	NM_003907.3(EIF2B5):c.*253T>C	EIF2B5	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 899567	NM_003907.3(EIF2B5):c.546G>A (p.Thr182=)	EIF2B5	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 899566	NM_003907.3(EIF2B5):c.506+6G>C	EIF2B5	Single nucleotide variant (intron variant)	Vanishing white matter disease	GUncertain significance
Select item 899565	NM_003907.3(EIF2B5):c.362G>A (p.Arg121Gln)	EIF2B5 (R121Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 898580	NM_001034116.2(EIF2B4):c.360G>A (p.Gly120=)	EIF2B4	Single nucleotide variant (synonymous variant +2 more)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 898579	NM_001034116.2(EIF2B4):c.428G>A (p.Arg143His)	EIF2B4 (R128H +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +1 more	GUncertain significance
Select item 898578	NM_001034116.2(EIF2B4):c.491G>A (p.Arg164His)	EIF2B4 (R163H +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 897413	NM_001034116.2(EIF2B4):c.791C>A (p.Thr264Asn)	EIF2B4, GTF3C2-AS2 (T263N +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 897412	NM_001034116.2(EIF2B4):c.1129G>C (p.Val377Leu)	EIF2B4, GTF3C2-AS2 (V182L +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 896992	NM_015636.3(EIF2B4):c.-116G>C	EIF2B4	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 896991	NM_015636.3(EIF2B4):c.-90G>T	EIF2B4	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 896990	NM_015636.3(EIF2B4):c.-43G>A	EIF2B4	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 896989	NM_001034116.2(EIF2B4):c.-2C>T	EIF2B4	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 896988	NM_001034116.2(EIF2B4):c.61C>T (p.Pro21Ser)	EIF2B4 (P42S +2 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 896912	NM_001034116.2(EIF2B4):c.1191+13G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 896911	NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)	EIF2B4, GTF3C2-AS2 (R452Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 895584	NM_001034116.2(EIF2B4):c.211+11G>A	EIF2B4	Single nucleotide variant (intron variant)	Vanishing white matter disease	GUncertain significance
Select item 895583	NM_001034116.2(EIF2B4):c.239C>T (p.Ser80Leu)	EIF2B4 (S101L +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 895582	NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln)	EIF2B4 (R81Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 895509	NM_001034116.2(EIF2B4):c.1488T>C (p.Leu496=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease	GUncertain significance
Select item 888259	NM_014239.4(EIF2B2):c.96G>A (p.Glu32=)	EIF2B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888258	NM_014239.4(EIF2B2):c.-30C>G	EIF2B2	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 887060	NM_014239.4(EIF2B2):c.*283T>C	EIF2B2	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 887059	NM_014239.4(EIF2B2):c.*241C>T	EIF2B2	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 886061	NM_014239.4(EIF2B2):c.946G>A (p.Val316Ile)	EIF2B2 (V316I)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance

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