皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症

最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.521G>A (p.Cys174Tyr)	NOTCH3	Pathogenic	19	15302929	15302929	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533739
single nucleotide variant	NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe)	NOTCH3	Likely pathogenic	19	15303013	15303013	C	A	criteria provided, single submitter	ClinGen:CA404534071
single nucleotide variant	NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)	NOTCH3	Pathogenic	19	15303013	15303013	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534075
single nucleotide variant	NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)	NOTCH3	Pathogenic/Likely pathogenic	19	15303014	15303014	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534080
single nucleotide variant	NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3	Pathogenic	19	15303029	15303029	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534145
single nucleotide variant	NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe)	NOTCH3	Pathogenic	19	15303100	15303100	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263904
single nucleotide variant	NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr)	NOTCH3	Pathogenic	19	15303100	15303100	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534517
single nucleotide variant	NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly)	NOTCH3	Pathogenic	19	15303101	15303101	A	C	criteria provided, single submitter	ClinGen:CA404534520
single nucleotide variant	NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg)	NOTCH3	Pathogenic	19	15303101	15303101	A	G	criteria provided, single submitter	ClinGen:CA404534521
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