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
Duplication	NM_000314.8(PTEN):c.253+1dup	PTEN	Pathogenic/Likely pathogenic	10	89690845	89690846	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578912
single nucleotide variant	NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692887	89692887	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578914
Deletion	NM_000314.8(PTEN):c.458_461del (p.Asp153fs)	PTEN	Pathogenic	10	89692974	89692977	GATTT	G	criteria provided, single submitter	ClinGen:CA10578916
single nucleotide variant	NM_000314.8(PTEN):c.509G>T (p.Ser170Ile)	PTEN	Pathogenic	10	89711891	89711891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578917
Duplication	NM_000314.8(PTEN):c.585dup (p.His196fs)	PTEN	Pathogenic	10	89711964	89711965	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578920
single nucleotide variant	NM_000314.8(PTEN):c.750T>A (p.Cys250Ter)	PTEN	Pathogenic	10	89717725	89717725	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578922
Deletion	NM_000314.8(PTEN):c.949del (p.Val317fs)	PTEN	Pathogenic	10	89720798	89720798	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578931
single nucleotide variant	NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys)	PTEN	Pathogenic	10	89725229	89725229	A	T	reviewed by expert panel	ClinGen:CA10578936
single nucleotide variant	NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter)	PTEN	Pathogenic	10	89711913	89711913	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581279
Deletion	NM_000314.8(PTEN):c.53del (p.Glu18fs)	PTEN	Pathogenic	10	89624279	89624279	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582753

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