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

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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_000314.8(PTEN):c.253+1G>T	PTEN	Pathogenic	10	89690847	89690847	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000364
single nucleotide variant	NM_000314.8(PTEN):c.277C>G (p.His93Asp)	PTEN	Likely pathogenic	10	89692793	89692793	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.284C>T (p.Pro95Leu)	PTEN	Pathogenic	10	89692800	89692800	C	T	reviewed by expert panel	ClinGen:CA000383
single nucleotide variant	NM_000314.8(PTEN):c.289C>T (p.Gln97Ter)	PTEN	Pathogenic	10	89692805	89692805	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000386
single nucleotide variant	NM_000314.8(PTEN):c.320A>G (p.Asp107Gly)	PTEN	Likely pathogenic	10	89692836	89692836	A	G	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.321del (p.Asp109fs)	PTEN	Pathogenic	10	89692837	89692837	AT	A	criteria provided, single submitter	ClinGen:CA000397
single nucleotide variant	NM_000314.8(PTEN):c.367C>T (p.His123Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692883	89692883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000417,UniProtKB:P60484#VAR_026260
single nucleotide variant	NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	PTEN	Pathogenic/Likely pathogenic	10	89692901	89692901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000429,UniProtKB:P60484#VAR_007466
single nucleotide variant	NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr)	PTEN	Pathogenic	10	89692923	89692923	G	A	reviewed by expert panel	ClinGen:CA000451,UniProtKB:P60484#VAR_007808
single nucleotide variant	NM_000314.8(PTEN):c.437T>A (p.Leu146Ter)	PTEN	Pathogenic	10	89692953	89692953	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000458

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