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.2953C>T (p.Arg985Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15291813	15291813	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514605
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
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.1646G>A (p.Cys549Tyr)	NOTCH3	Pathogenic	19	15298110	15298110	C	T	criteria provided, single submitter	ClinGen:CA404526030
single nucleotide variant	NM_000435.3(NOTCH3):c.1597T>C (p.Cys533Arg)	NOTCH3	Pathogenic	19	15298701	15298701	A	G	criteria provided, single submitter	ClinGen:CA404526271
single nucleotide variant	NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)	NOTCH3	Pathogenic	19	15299910	15299910	T	C	criteria provided, single submitter	ClinGen:CA404528126
single nucleotide variant	NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys)	NOTCH3	Pathogenic	19	15299917	15299917	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404528164
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.1255T>G (p.Cys419Gly)	NOTCH3	Pathogenic	19	15299923	15299923	A	C	criteria provided, single submitter	ClinGen:CA404528196
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