"Illumina Laboratory Services, Illumina"[submitter] AND "EIF2B4"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335530	NM_001034116.2(EIF2B4):c.*39C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 335531	NM_001034116.2(EIF2B4):c.*1C>T	EIF2B4, GTF3C2-AS2	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
Select item 631858	NM_001034116.2(EIF2B4):c.1505C>T (p.Thr502Met)	EIF2B4, GTF3C2-AS2 (T501M +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	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 2429423	NM_001034116.2(EIF2B4):c.1457A>G (p.Asn486Ser)	EIF2B4, GTF3C2-AS2 (N280S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 335532	NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 335533	NM_001034116.2(EIF2B4):c.1383T>C (p.Asp461=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 335534	NM_001034116.2(EIF2B4):c.1373-4G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	Vanishing white matter disease	GUncertain significance
Select item 167036	NM_001034116.2(EIF2B4):c.1372+13A>C	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 335535	NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe)	EIF2B4, GTF3C2-AS2 (C436F +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95737	NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 335536	NM_001034116.2(EIF2B4):c.1136C>T (p.Ala379Val)	EIF2B4, GTF3C2-AS2 (A378V +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
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 4117	NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln)	EIF2B4, GTF3C2-AS2 (R357Q +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 95736	NM_001034116.2(EIF2B4):c.1014-7A>G	EIF2B4, GTF3C2-AS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 335537	NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys)	EIF2B4, GTF3C2-AS2 (R320C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 335538	NM_001034116.2(EIF2B4):c.938T>C (p.Val313Ala)	EIF2B4, GTF3C2-AS2 (V312A +7 more)	Single nucleotide variant (missense variant)	EIF2B4-related condition +2 more	GBenign/Likely benign
Select item 128990	NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly)	GTF3C2-AS2, EIF2B4 (R306G +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GBenign
Select item 335539	NM_001034116.2(EIF2B4):c.812C>T (p.Ala271Val)	EIF2B4, GTF3C2-AS2 (A270V +7 more)	Single nucleotide variant (missense variant)	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 128989	NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=)	EIF2B4, GTF3C2-AS2	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 335540	NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala)	EIF2B4, GTF3C2-AS2 (T241A +7 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2429425	NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)	EIF2B4 (Q182H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335541	NM_001034116.2(EIF2B4):c.515A>C (p.Asp172Ala)	EIF2B4 (D172A +5 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	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 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 585845	NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=)	EIF2B4	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 335542	NM_001034116.2(EIF2B4):c.342G>C (p.Leu114=)	EIF2B4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895582	NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln)	EIF2B4 (R81Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 335543	NM_001034116.2(EIF2B4):c.311G>A (p.Arg104His)	EIF2B4 (R104H +5 more)	Single nucleotide variant (missense variant +1 more)	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 335544	NM_001034116.2(EIF2B4):c.219A>C (p.Pro73=)	EIF2B4	Single nucleotide variant (synonymous variant +1 more)	Vanishing white matter disease +1 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 335545	NM_001034116.2(EIF2B4):c.158A>G (p.Glu53Gly)	EIF2B4 (E53G +3 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 335546	NM_001034116.2(EIF2B4):c.95C>A (p.Thr32Asn)	EIF2B4 (T32N +3 more)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 95738	NM_001034116.2(EIF2B4):c.76-7G>A	EIF2B4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 335547	NM_001034116.2(EIF2B4):c.69G>T (p.Gly23=)	EIF2B4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 720908	NM_001034116.2(EIF2B4):c.27C>T (p.Arg9=)	EIF2B4	Single nucleotide variant (synonymous variant +1 more)	EIF2B4-related condition +2 more	GBenign
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 896990	NM_015636.3(EIF2B4):c.-43G>A	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 896992	NM_015636.3(EIF2B4):c.-116G>C	EIF2B4	Single nucleotide variant	Vanishing white matter disease	GUncertain significance

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Items: 46