血管型エーラス・ダンロス症候群 - MGenReviews

血管型エーラス・ダンロス症候群

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_000090.4(COL3A1):c.622C>T (p.Gln208Ter)	COL3A1	Likely pathogenic	2	189853355	189853355	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)	COL3A1	Pathogenic/Likely pathogenic	2	189855061	189855061	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.3093+1G>T	COL3A1	Likely pathogenic	2	189870986	189870986	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)	COL3A1	Likely pathogenic	2	189858142	189858142	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.447+1G>A	COL3A1	Likely pathogenic	2	189850505	189850505	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp)	COL3A1	Likely pathogenic	2	189864030	189864030	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000090.4(COL3A1):c.2536G>A (p.Gly846Arg)	COL3A1	Likely pathogenic	2	189867771	189867771	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1977+5G>A	COL3A1	Likely pathogenic	2	189863050	189863050	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser)	COL3A1	Pathogenic	2	189855757	189855757	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.827G>T (p.Gly276Val)	COL3A1	Likely pathogenic	2	189855758	189855758	G	T	criteria provided, single submitter	-

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