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.544C>T (p.Arg182Cys)	NOTCH3	Pathogenic	19	15302906	15302906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340885,UniProtKB:Q9UM47#VAR_012883,OMIM:600276.0003
single nucleotide variant	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3	Pathogenic	19	15302945	15302945	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340884,UniProtKB:Q9UM47#VAR_012880,OMIM:600276.0002
single nucleotide variant	NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys)	NOTCH3	Pathogenic	19	15303315	15303315	C	A	criteria provided, single submitter	ClinGen:CA340883,UniProtKB:Q9UM47#VAR_012872,OMIM:600276.0001
single nucleotide variant	NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)	NOTCH3	Likely pathogenic	19	15303099	15303099	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe)	NOTCH3	Likely pathogenic	19	15303067	15303067	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly)	NOTCH3	Likely pathogenic	19	15291810	15291810	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe)	NOTCH3	Likely pathogenic	19	15302339	15302339	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)	NOTCH3	Likely pathogenic	19	15299088	15299088	A	C	criteria provided, single submitter	ClinGen:CA404526893
Deletion	NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	NOTCH3	Likely pathogenic	19	15271747	15271747	TG	T	criteria provided, single submitter	ClinGen:CA658799171
single nucleotide variant	NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys)	NOTCH3	Likely pathogenic	19	15303074	15303074	T	A	criteria provided, single submitter	ClinGen:CA404534368