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.1869+1G>C	COL3A1	Pathogenic	2	189862116	189862116	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004649
single nucleotide variant	NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser)	COL3A1	Pathogenic	2	189868816	189868816	G	A	criteria provided, single submitter	ClinGen:CA005653
single nucleotide variant	NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)	COL3A1	Likely pathogenic	2	189855079	189855079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007422
single nucleotide variant	NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg)	COL3A1	Pathogenic/Likely pathogenic	2	189864268	189864268	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005171
single nucleotide variant	NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter)	COL3A1	Pathogenic	2	189856934	189856934	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007729
single nucleotide variant	NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala)	COL3A1	Likely pathogenic	2	189869074	189869074	G	C	criteria provided, single submitter	ClinGen:CA005856,UniProtKB:P02461#VAR_011143
single nucleotide variant	NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg)	COL3A1	Likely pathogenic	2	189872842	189872842	G	C	criteria provided, single submitter	ClinGen:CA006503
single nucleotide variant	NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg)	COL3A1	Pathogenic	2	189859303	189859303	G	C	criteria provided, single submitter	ClinGen:CA004230,UniProtKB:P02461#VAR_011117
Deletion	NM_000090.4(COL3A1):c.1761+4_1761+5del	COL3A1	Pathogenic	2	189861225	189861226	TGA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)	COL3A1	Likely pathogenic	2	189863029	189863029	G	A	criteria provided, single submitter	ClinGen:CA004767

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