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
single nucleotide variant	NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)	PTEN	Pathogenic/Likely pathogenic	10	89692946	89692946	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606102
single nucleotide variant	NM_000314.8(PTEN):c.445C>T (p.Gln149Ter)	PTEN	Pathogenic	10	89692961	89692961	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612898
Deletion	NC_000010.11:g.(?_87894025)_(87894109_?)del	PTEN	Pathogenic	10	89653782	89653866	na	na	criteria provided, single submitter	-
Indel	NM_000314.8(PTEN):c.802-4_804delinsA	PTEN	Likely pathogenic	10	89720647	89720653	TTAGGAC	A	criteria provided, single submitter	ClinGen:CA16612913
single nucleotide variant	NM_000314.8(PTEN):c.945T>G (p.Tyr315Ter)	PTEN	Pathogenic	10	89720794	89720794	T	G	criteria provided, single submitter	ClinGen:CA16612915
Duplication	NM_000314.8(PTEN):c.200dup (p.Tyr68fs)	PTEN	Pathogenic	10	89685304	89685305	A	AT	criteria provided, single submitter	ClinGen:CA16613000
single nucleotide variant	NM_000314.8(PTEN):c.293T>G (p.Leu98Arg)	PTEN	Likely pathogenic	10	89692809	89692809	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613006
Deletion	NM_000314.8(PTEN):c.492+2del	PTEN	Likely pathogenic	10	89693010	89693010	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613008
Duplication	NM_000314.8(PTEN):c.723dup (p.Glu242Ter)	PTEN	Pathogenic	10	89717695	89717696	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613017
Deletion	NM_000314.8(PTEN):c.801+1del	PTEN	Pathogenic	10	89717776	89717776	AG	A	reviewed by expert panel	ClinGen:CA16613026

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