皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.128G>A (p.Cys43Tyr)	NOTCH3	Pathogenic	19	15308380	15308380	C	T	criteria provided, single submitter	ClinGen:CA404483448
single nucleotide variant	NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)	NOTCH3	Pathogenic	19	15308363	15308363	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg)	NOTCH3	Pathogenic	19	15308363	15308363	A	G	criteria provided, single submitter	ClinGen:CA404483412
single nucleotide variant	NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15308362	15308362	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404483407
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.160C>T (p.Arg54Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15308348	15308348	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404483379
single nucleotide variant	NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg)	NOTCH3	Pathogenic	19	15308345	15308345	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15308344	15308344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404483372
single nucleotide variant	NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly)	NOTCH3	Pathogenic	19	15308315	15308315	A	C	criteria provided, single submitter	ClinGen:CA404483316
single nucleotide variant	NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)	NOTCH3	Pathogenic/Likely pathogenic	19	15308314	15308314	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404483314