"Baylor Genetics"[submitter] AND "NOTCH3"[gene] - ClinVar - NCBI

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

Search results

Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032359	NM_000435.3(NOTCH3):c.5114+11T>G	NOTCH3	Single nucleotide variant (intron variant)	Myofibromatosis, infantile, 2	GUncertain significance
Select item 328393	NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)	NOTCH3 (H1235L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1028753	NM_000435.3(NOTCH3):c.3506C>A (p.Pro1169Gln)	NOTCH3 (P1169Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 804632	NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)	NOTCH3 (R1143C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1032357	NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)	NOTCH3 (P685L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 1032358	NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)	NOTCH3 (V72M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032356	NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu)	NOTCH3 (P36L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance