皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.145T>C (p.Cys49Arg)	NOTCH3	Pathogenic	19	15308363	15308363	A	G	criteria provided, single submitter	ClinGen:CA404483412
single nucleotide variant	NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)	NOTCH3	Pathogenic	19	15308363	15308363	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr)	NOTCH3	Pathogenic	19	15308380	15308380	C	T	criteria provided, single submitter	ClinGen:CA404483448