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.580T>A (p.Cys194Ser)	NOTCH3	Pathogenic	19	15302870	15302870	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg)	NOTCH3	Pathogenic	19	15302607	15302607	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser)	NOTCH3	Pathogenic	19	15299974	15299974	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr)	NOTCH3	Pathogenic	19	15299895	15299895	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe)	NOTCH3	Pathogenic	19	15299841	15299841	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr)	NOTCH3	Pathogenic	19	15299105	15299105	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr)	NOTCH3	Pathogenic	19	15299087	15299087	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe)	NOTCH3	Pathogenic	19	15299087	15299087	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.3026G>A (p.Cys1009Tyr)	NOTCH3	Pathogenic	19	15291608	15291608	C	T	criteria provided, single submitter	-
Duplication	NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs)	NOTCH3	Pathogenic	19	15271930	15271931	A	AG	criteria provided, single submitter	ClinGen:CA658799172