"OMIM"[submitter] AND "GTF3C2-AS2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4122	NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)	EIF2B4, GTF3C2-AS2 (Y489H +7 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 2671575	NM_001034116.2(EIF2B4):c.1447C>T (p.Arg483Trp)	EIF2B4, GTF3C2-AS2 (R277W +6 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 4121	NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg)	EIF2B4, GTF3C2-AS2 (C465R +7 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 4119	NM_001034116.2(EIF2B4):c.1191+1G>A	EIF2B4, GTF3C2-AS2	Single nucleotide variant (splice donor variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 2671576	NM_001034116.2(EIF2B4):c.1172C>A (p.Ala391Asp)	EIF2B4, GTF3C2-AS2 (A185D +6 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 4	GPathogenic
Select item 4118	NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys)	EIF2B4, GTF3C2-AS2 (R374C +7 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1504593	NM_001034116.2(EIF2B4):c.955A>G (p.Ile319Val)	EIF2B4, GTF3C2-AS2 (I339V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance