皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)	NOTCH3	Pathogenic/Likely pathogenic	19	15303014	15303014	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534080
single nucleotide variant	NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15302896	15302896	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533592
single nucleotide variant	NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15302848	15302848	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533376
single nucleotide variant	NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15302831	15302831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263848
single nucleotide variant	NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15302785	15302785	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533082
single nucleotide variant	NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15302585	15302585	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404532336
single nucleotide variant	NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly)	NOTCH3	Pathogenic/Likely pathogenic	19	15300141	15300141	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404529182
single nucleotide variant	NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15299920	15299920	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404528180
single nucleotide variant	NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15298084	15298084	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263584
single nucleotide variant	NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15291815	15291815	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514611