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.2953C>T (p.Arg985Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15291813	15291813	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514605
single nucleotide variant	NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15291572	15291572	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514283
single nucleotide variant	NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15290984	15290984	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404513546
single nucleotide variant	NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15290914	15290914	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404513034
single nucleotide variant	NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15290279	15290279	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404512422
single nucleotide variant	NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15291028	15291028	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620807
single nucleotide variant	NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15297937	15297937	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263542
single nucleotide variant	NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15302993	15302993	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346917,UniProtKB:Q9UM47#VAR_012879
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.1363T>C (p.Cys455Arg)	NOTCH3	Pathogenic/Likely pathogenic	19	15299815	15299815	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340888,UniProtKB:Q9UM47#VAR_044302,OMIM:600276.0006