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.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.1235A>G (p.Gln412Arg)	NOTCH3	Likely pathogenic	19	15299943	15299943	T	C	criteria provided, single submitter	ClinGen:CA404528303
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
Duplication	NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs)	NOTCH3	Likely pathogenic	19	15272512	15272513	A	AG	criteria provided, single submitter	ClinGen:CA16620806
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.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.1364G>T (p.Cys455Phe)	NOTCH3	Pathogenic	19	15299814	15299814	C	A	criteria provided, single submitter	ClinGen:CA10603630
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