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.685_686dup (p.Gly230fs)	PTEN	Pathogenic	10	89717659	89717660	T	TTC	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87894015)_(87894119_?)del	PTEN	Pathogenic	10	89653772	89653876	na	na	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.210-6_210-2del	PTEN	Likely pathogenic	10	89690797	89690801	CTTTTA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)	PTEN	Likely pathogenic	10	89692791	89692791	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.486_487del (p.Asp162fs)	PTEN	Pathogenic	10	89693001	89693002	GAC	G	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.597_599del (p.Met199_Phe200delinsIle)	PTEN	Pathogenic	10	89711978	89711980	ATGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.720C>G (p.Tyr240Ter)	PTEN	Pathogenic	10	89717695	89717695	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.755A>T (p.Asp252Val)	PTEN	Likely pathogenic	10	89717730	89717730	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.829A>G (p.Thr277Ala)	PTEN	Pathogenic	10	89720678	89720678	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)	PTEN	Likely pathogenic	10	89720778	89720778	A	G	criteria provided, multiple submitters, no conflicts	-

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