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.544C>T (p.Arg182Cys)	NOTCH3	Pathogenic	19	15302906	15302906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340885,UniProtKB:Q9UM47#VAR_012883,OMIM:600276.0003
single nucleotide variant	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3	Pathogenic	19	15302945	15302945	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340884,UniProtKB:Q9UM47#VAR_012880,OMIM:600276.0002
single nucleotide variant	NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys)	NOTCH3	Pathogenic	19	15303315	15303315	C	A	criteria provided, single submitter	ClinGen:CA340883,UniProtKB:Q9UM47#VAR_012872,OMIM:600276.0001