PTEN過誤腫症候群 - MGenReviews

PTEN過誤腫症候群

腫瘍性疾患

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
Duplication	NM_000314.8(PTEN):c.228dup (p.Asp77Ter)	PTEN	Pathogenic	10	89690820	89690821	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.277C>T (p.His93Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692793	89692793	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.302T>A (p.Ile101Asn)	PTEN	Pathogenic/Likely pathogenic	10	89692818	89692818	T	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000314.8(PTEN):c.332_333insT (p.Trp111fs)	PTEN	Pathogenic	10	89692848	89692849	G	GT	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.359dup (p.Ala121fs)	PTEN	Pathogenic	10	89692874	89692875	G	GC	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.469dup (p.Glu157fs)	PTEN	Pathogenic	10	89692981	89692982	T	TG	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.645dup (p.Val216fs)	PTEN	Pathogenic	10	89717617	89717618	G	GT	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.738_739dup (p.Leu247fs)	PTEN	Pathogenic	10	89717712	89717713	C	CGT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.796A>T (p.Lys266Ter)	PTEN	Pathogenic	10	89717771	89717771	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.823_824del (p.Val275fs)	PTEN	Pathogenic	10	89720672	89720673	GGT	G	criteria provided, single submitter	-

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