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.2989T>G (p.Cys997Gly)	NOTCH3	Pathogenic	19	15291777	15291777	A	C	criteria provided, single submitter	ClinGen:CA404514458
single nucleotide variant	NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly)	NOTCH3	Likely pathogenic	19	15291810	15291810	A	C	criteria provided, single submitter	-
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.1819C>T (p.Arg607Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15297937	15297937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263542
single nucleotide variant	NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)	NOTCH3	Pathogenic/Likely pathogenic	19	15297940	15297940	A	G	criteria provided, multiple submitters, no conflicts	-
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.1630C>T (p.Arg544Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15298126	15298126	G	A	criteria provided, multiple submitters, no conflicts	-
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