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.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.580T>C (p.Cys194Arg)	NOTCH3	Pathogenic/Likely pathogenic	19	15302870	15302870	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe)	NOTCH3	Pathogenic/Likely pathogenic	19	15302902	15302902	C	A	criteria provided, multiple submitters, no conflicts	-