C1851710[trait identifier] AND "GenomeConnect - CureCADASIL"[submitter - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447832	NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	NOTCH3 (C1099Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1807354	NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)	NOTCH3 (G1058C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 447825	NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	NOTCH3 (Y1021C)	Single nucleotide variant (missense variant)	NOTCH3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 256129	NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 374637	NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	NOTCH3 (R607C)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GPathogenic
Select item 810777	NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)	NOTCH3 (R449C)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 9219	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3 (R169C)	Single nucleotide variant (missense variant)	NOTCH3-related disorder +4 more	GPathogenic
Select item 447849	NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)	NOTCH3 (C146Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GPathogenic
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 9225	NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	NOTCH3 (R133C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 256131	NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign