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.6461_6486del (p.Gly2154fs)	NOTCH3	Pathogenic	19	15271953	15271978	GCAGGCCCAGGCTGAGTACACATCCTC	G	criteria provided, single submitter	ClinGen:CA358561,OMIM:600276.0013
single nucleotide variant	NM_000435.3(NOTCH3):c.1364G>T (p.Cys455Phe)	NOTCH3	Pathogenic	19	15299814	15299814	C	A	criteria provided, single submitter	ClinGen:CA10603630
single nucleotide variant	NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)	NOTCH3	Pathogenic	19	15271806	15271806	G	C	criteria provided, single submitter	ClinGen:CA16043086
single nucleotide variant	NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)	NOTCH3	Pathogenic	19	15291543	15291543	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514218
single nucleotide variant	NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe)	NOTCH3	Pathogenic	19	15291569	15291569	C	A	criteria provided, single submitter	ClinGen:CA404514274
single nucleotide variant	NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys)	NOTCH3	Pathogenic	19	15291594	15291594	G	A	criteria provided, single submitter	ClinGen:CA404514328
single nucleotide variant	NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys)	NOTCH3	Pathogenic	19	15291618	15291618	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514381
single nucleotide variant	NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr)	NOTCH3	Pathogenic	19	15291623	15291623	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514396
single nucleotide variant	NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly)	NOTCH3	Pathogenic	19	15291777	15291777	A	C	criteria provided, single submitter	ClinGen:CA404514458
single nucleotide variant	NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr)	NOTCH3	Pathogenic	19	15298110	15298110	C	T	criteria provided, single submitter	ClinGen:CA404526030