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.200G>T (p.Cys67Phe)	NOTCH3	Pathogenic/Likely pathogenic	19	15303328	15303328	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404535226
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.224G>C (p.Arg75Pro)	NOTCH3	Pathogenic	19	15303304	15303304	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser)	NOTCH3	Pathogenic	19	15303302	15303302	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg)	NOTCH3	Pathogenic	19	15303302	15303302	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404535145
single nucleotide variant	NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)	NOTCH3	Pathogenic	19	15303301	15303301	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)	NOTCH3	Pathogenic/Likely pathogenic	19	15303283	15303283	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA305778444
single nucleotide variant	NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg)	NOTCH3	Pathogenic	19	15303269	15303269	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)	NOTCH3	Pathogenic	19	15303260	15303260	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534999
single nucleotide variant	NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg)	NOTCH3	Pathogenic	19	15303212	15303212	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534799