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.815A>C (p.His272Pro)	PTEN	Likely pathogenic	10	89720664	89720664	A	C	criteria provided, single submitter	ClinGen:CA377485467
single nucleotide variant	NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)	PTEN	Likely pathogenic	10	89720679	89720679	C	G	reviewed by expert panel	ClinGen:CA377485523
Deletion	NM_000314.8(PTEN):c.849del (p.Glu284fs)	PTEN	Pathogenic	10	89720698	89720698	CA	C	criteria provided, single submitter	ClinGen:CA645369467
single nucleotide variant	NM_000314.8(PTEN):c.860C>A (p.Ser287Ter)	PTEN	Pathogenic	10	89720709	89720709	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485630
single nucleotide variant	NM_000314.8(PTEN):c.865A>T (p.Lys289Ter)	PTEN	Pathogenic	10	89720714	89720714	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485648
Indel	NM_000314.8(PTEN):c.884_900delinsG (p.Leu295fs)	PTEN	Likely pathogenic	10	89720733	89720749	TATGTGATCAAGAAATC	G	reviewed by expert panel	ClinGen:CA645369469
Deletion	NM_000314.8(PTEN):c.885_888del (p.Cys296fs)	PTEN	Pathogenic	10	89720733	89720736	CTATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369468
Deletion	NM_000314.8(PTEN):c.886del (p.Cys296fs)	PTEN	Pathogenic	10	89720735	89720735	AT	A	criteria provided, single submitter	ClinGen:CA645369470
single nucleotide variant	NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)	PTEN	Pathogenic	10	89720744	89720744	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485762
Deletion	NM_000314.8(PTEN):c.914del (p.Ser305fs)	PTEN	Pathogenic	10	89720763	89720763	AG	A	criteria provided, single submitter	ClinGen:CA645369471

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