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.1451G>A (p.Cys484Tyr)	NOTCH3	Pathogenic	19	15299087	15299087	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe)	NOTCH3	Pathogenic	19	15299087	15299087	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)	NOTCH3	Pathogenic/Likely pathogenic	19	15297940	15297940	A	G	criteria provided, multiple submitters, no conflicts	-
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.3026G>A (p.Cys1009Tyr)	NOTCH3	Pathogenic	19	15291608	15291608	C	T	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.1630C>T (p.Arg544Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15298126	15298126	G	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
Duplication	NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs)	NOTCH3	Pathogenic	19	15271930	15271931	A	AG	criteria provided, single submitter	ClinGen:CA658799172
Deletion	NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	NOTCH3	Likely pathogenic	19	15271747	15271747	TG	T	criteria provided, single submitter	ClinGen:CA658799171