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.323G>T (p.Cys108Phe)	NOTCH3	Pathogenic	19	15303205	15303205	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534781
single nucleotide variant	NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg)	NOTCH3	Pathogenic	19	15303101	15303101	A	G	criteria provided, single submitter	ClinGen:CA404534521
single nucleotide variant	NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly)	NOTCH3	Pathogenic	19	15303101	15303101	A	C	criteria provided, single submitter	ClinGen:CA404534520
single nucleotide variant	NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr)	NOTCH3	Pathogenic	19	15303100	15303100	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534517
single nucleotide variant	NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe)	NOTCH3	Pathogenic	19	15303100	15303100	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263904
single nucleotide variant	NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)	NOTCH3	Likely pathogenic	19	15303099	15303099	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys)	NOTCH3	Likely pathogenic	19	15303074	15303074	T	A	criteria provided, single submitter	ClinGen:CA404534368
single nucleotide variant	NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe)	NOTCH3	Likely pathogenic	19	15303067	15303067	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15303053	15303053	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340890,UniProtKB:Q9UM47#VAR_012876,OMIM:600276.0008
single nucleotide variant	NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3	Pathogenic	19	15303029	15303029	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534145