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.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
single nucleotide variant	NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	NOTCH3	Pathogenic	19	15271776	15271776	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA358562,OMIM:600276.0016
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
single nucleotide variant	NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys)	NOTCH3	Pathogenic	19	15300089	15300089	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347693
single nucleotide variant	NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)	NOTCH3	Pathogenic	19	15272192	15272192	T	A	criteria provided, single submitter	ClinGen:CA204353,OMIM:600276.0017
single nucleotide variant	NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)	NOTCH3	Pathogenic	19	15308362	15308362	C	A	criteria provided, single submitter	ClinGen:CA174091,UniProtKB:Q9UM47#VAR_044231
single nucleotide variant	NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)	NOTCH3	Pathogenic	19	15302277	15302277	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340889,UniProtKB:Q9UM47#VAR_044289,OMIM:600276.0007