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.210-1G>C	PTEN	Likely pathogenic	10	89690802	89690802	G	C	criteria provided, single submitter	ClinGen:CA377481230
single nucleotide variant	NM_000314.8(PTEN):c.210-1G>T	PTEN	Likely pathogenic	10	89690802	89690802	G	T	criteria provided, single submitter	ClinGen:CA377481227
Duplication	NM_000314.8(PTEN):c.219_220dup (p.Arg74fs)	PTEN	Pathogenic	10	89690810	89690811	G	GAA	criteria provided, single submitter	ClinGen:CA645369419
Deletion	NM_000314.8(PTEN):c.261del (p.Gln87fs)	PTEN	Pathogenic	10	89692776	89692776	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369473
Duplication	NM_000314.8(PTEN):c.270dup (p.Glu91Ter)	PTEN	Likely pathogenic	10	89692782	89692783	C	CT	reviewed by expert panel	ClinGen:CA645369474
Deletion	NM_000314.8(PTEN):c.271del (p.Glu91fs)	PTEN	Pathogenic	10	89692787	89692787	TG	T	criteria provided, single submitter	ClinGen:CA645369475
single nucleotide variant	NM_000314.8(PTEN):c.275A>C (p.Asp92Ala)	PTEN	Likely pathogenic	10	89692791	89692791	A	C	criteria provided, single submitter	ClinGen:CA377482084
Deletion	NM_000314.8(PTEN):c.315del (p.Cys105fs)	PTEN	Pathogenic	10	89692831	89692831	GT	G	criteria provided, single submitter	ClinGen:CA645369477
single nucleotide variant	NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)	PTEN	Pathogenic	10	89692844	89692844	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482195
single nucleotide variant	NM_000314.8(PTEN):c.355G>C (p.Val119Leu)	PTEN	Likely pathogenic	10	89692871	89692871	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA211240488

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