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
Deletion	NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	NOTCH3	Likely pathogenic	19	15271747	15271747	TG	T	criteria provided, single submitter	ClinGen:CA658799171
Duplication	NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	NOTCH3	Pathogenic	19	15271746	15271747	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA358564,OMIM:600276.0014
single nucleotide variant	NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)	NOTCH3	Pathogenic	19	15271707	15271707	G	T	criteria provided, single submitter	OMIM:600276.0015,ClinGen:CA358565