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.2113G>A (p.Gly705Arg)	COL3A1	Likely pathogenic	2	189864101	189864101	G	A	criteria provided, single submitter	ClinGen:CA005025
single nucleotide variant	NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)	COL3A1	Pathogenic/Likely pathogenic	2	189853344	189853344	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007139,UniProtKB:P02461#VAR_011098
single nucleotide variant	NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val)	COL3A1	Likely pathogenic	2	189873660	189873660	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006617
single nucleotide variant	NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser)	COL3A1	Pathogenic	2	189859032	189859032	G	A	criteria provided, single submitter	ClinGen:CA004186
single nucleotide variant	NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)	COL3A1	Likely pathogenic	2	189864093	189864093	G	T	criteria provided, single submitter	ClinGen:CA005016
single nucleotide variant	NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu)	COL3A1	Likely pathogenic	2	189856423	189856423	G	A	criteria provided, single submitter	ClinGen:CA007592
single nucleotide variant	NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)	COL3A1	Likely pathogenic	2	189859486	189859486	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004274
single nucleotide variant	NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu)	COL3A1	Pathogenic	2	189862090	189862090	G	A	criteria provided, single submitter	ClinGen:CA004607
single nucleotide variant	NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)	COL3A1	Pathogenic	2	189855070	189855070	G	A	criteria provided, single submitter	ClinGen:CA007414
single nucleotide variant	NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)	COL3A1	Pathogenic	2	189864250	189864250	G	A	criteria provided, single submitter	ClinGen:CA005140,UniProtKB:P02461#VAR_001779

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