C4551768[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572441	NM_000435.3(NOTCH3):c.4360del (p.Asp1454fs)	NOTCH3 (D1454fs)	Deletion (frameshift variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1526213	NM_000435.3(NOTCH3):c.3545G>A (p.Cys1182Tyr)	NOTCH3 (C1182Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1687431	NM_000435.3(NOTCH3):c.2142C>T (p.Gly714=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 591197	NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)	NOTCH3 (C624Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 447794	NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3 (R558C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 546089	NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	NOTCH3 (R544C)	Single nucleotide variant (missense variant)	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 1333478	NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)	NOTCH3 (C542R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1333426	NM_000435.3(NOTCH3):c.1595G>A (p.Arg532His)	NOTCH3 (R532H)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1333211	NM_000435.3(NOTCH3):c.1478G>C (p.Cys493Ser)	NOTCH3 (C493S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 994848	NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe)	NOTCH3 (C260F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2572414	NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)	NOTCH3 (C168Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 447846	NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3 (R141C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1526178	NM_000435.3(NOTCH3):c.403T>C (p.Ser135Pro)	NOTCH3 (S135P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1687327	NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu)	NOTCH3 (R133L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 632306	NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)	NOTCH3 (R75P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic
Select item 447791	NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	NOTCH3 (R54C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic