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.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.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.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.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.194G>C (p.Cys65Ser)	NOTCH3	Pathogenic/Likely pathogenic	19	15308314	15308314	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA404483314
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.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.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.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.145T>C (p.Cys49Arg)	NOTCH3	Pathogenic	19	15308363	15308363	A	G	criteria provided, single submitter	ClinGen:CA404483412