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.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.323G>T (p.Cys108Phe)	NOTCH3	Pathogenic	19	15303205	15303205	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404534781
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
Deletion	NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	NOTCH3	Likely pathogenic	19	15271747	15271747	TG	T	criteria provided, single submitter	ClinGen:CA658799171
Duplication	NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs)	NOTCH3	Pathogenic	19	15271930	15271931	A	AG	criteria provided, single submitter	ClinGen:CA658799172
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
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.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.3026G>A (p.Cys1009Tyr)	NOTCH3	Pathogenic	19	15291608	15291608	C	T	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	-