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

1
...
5
6
7
8
9
...
26

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.1870-2A>T	COL3A1	Likely pathogenic	2	189862424	189862424	A	T	criteria provided, single submitter	ClinGen:CA004684
single nucleotide variant	NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp)	COL3A1	Pathogenic	2	189864242	189864242	G	A	criteria provided, single submitter	ClinGen:CA005131
single nucleotide variant	NM_000090.4(COL3A1):c.746G>T (p.Gly249Val)	COL3A1	Pathogenic	2	189855034	189855034	G	T	criteria provided, single submitter	ClinGen:CA007357,UniProtKB:P02461#VAR_011106
single nucleotide variant	NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)	COL3A1	Pathogenic	2	189870103	189870103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005904
single nucleotide variant	NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg)	COL3A1	Pathogenic	2	189860860	189860860	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004370,UniProtKB:P02461#VAR_001772
single nucleotide variant	NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp)	COL3A1	Pathogenic	2	189859033	189859033	G	A	criteria provided, single submitter	ClinGen:CA004193
single nucleotide variant	NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)	COL3A1	Pathogenic	2	189855767	189855767	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007501
single nucleotide variant	NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp)	COL3A1	Pathogenic	2	189870077	189870077	G	A	criteria provided, single submitter	ClinGen:CA005873
single nucleotide variant	NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)	COL3A1	Likely pathogenic	2	189854132	189854132	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007188
single nucleotide variant	NM_000090.4(COL3A1):c.951+4A>T	COL3A1	Likely pathogenic	2	189856452	189856452	A	T	criteria provided, single submitter	ClinGen:CA007643

1
...
5
6
7
8
9
...
26