"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812742	NM_000435.3(NOTCH3):c.2126G>A (p.Cys709Tyr)	NOTCH3 (C709Y)	Single nucleotide variant (missense variant)	Progressive psychomotor deterioration	GLikely pathogenic
Select item 812743	NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg)	NOTCH3 (C388R)	Single nucleotide variant (missense variant)	Abnormal cerebral white matter morphology +1 more	GLikely pathogenic
Select item 812744	NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser)	NOTCH3 (C379S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812745	NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	NOTCH3 (C212R)	Single nucleotide variant (missense variant)	Ischemic stroke +6 more	GPathogenic
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 585600	NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)	NOTCH3 (C76Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic

ClinVar