C4551768[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805895	NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)	NOTCH3 (R2207Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1805226	NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)	NOTCH3 (F908Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 804628	NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)	NOTCH3 (R717C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1805526	NM_000435.3(NOTCH3):c.1791C>G (p.Cys597Trp)	NOTCH3 (C597W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 892108	NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe)	NOTCH3 (S550F)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 546089	NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	NOTCH3 (R544C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1804902	NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)	NOTCH3 (C522S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 9224	NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)	NOTCH3 (R332C)	Single nucleotide variant (missense variant)	NOTCH3-related condition +3 more	GPathogenic
Select item 1805476	NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)	NOTCH3 (R153S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1805477	NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)	NOTCH3 (P21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance