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.554G>T (p.Cys185Phe)	NOTCH3	Pathogenic	19	15302896	15302896	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg)	NOTCH3	Pathogenic	19	15302897	15302897	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe)	NOTCH3	Pathogenic/Likely pathogenic	19	15302902	15302902	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr)	NOTCH3	Pathogenic	19	15302902	15302902	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr)	NOTCH3	Pathogenic	19	15303019	15303019	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe)	NOTCH3	Likely pathogenic	19	15303067	15303067	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)	NOTCH3	Likely pathogenic	19	15303099	15303099	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg)	NOTCH3	Pathogenic	19	15303269	15303269	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)	NOTCH3	Pathogenic	19	15303301	15303301	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser)	NOTCH3	Pathogenic	19	15303302	15303302	A	T	criteria provided, single submitter	-