C0038454[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

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