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
Deletion	NM_000314.8(PTEN):c.416del (p.Leu139fs)	PTEN	Pathogenic	10	89692930	89692930	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797479
Deletion	NM_000314.8(PTEN):c.492+1_492+5del	PTEN	Likely pathogenic	10	89693006	89693010	AAAGGT	A	criteria provided, single submitter	ClinGen:CA658797480
Duplication	NM_000314.8(PTEN):c.723_724dup (p.Glu242fs)	PTEN	Pathogenic	10	89717697	89717698	T	TTG	criteria provided, single submitter	ClinGen:CA658797485
single nucleotide variant	NM_000314.8(PTEN):c.87T>A (p.Tyr29Ter)	PTEN	Pathogenic	10	89653789	89653789	T	A	criteria provided, single submitter	ClinGen:CA377784391
Deletion	NM_000314.8(PTEN):c.188del (p.Asn63fs)	PTEN	Pathogenic	10	89685289	89685289	TA	T	criteria provided, single submitter	ClinGen:CA470882642
Deletion	NM_000314.8(PTEN):c.386del (p.Gly129fs)	PTEN	Pathogenic	10	89692900	89692900	AG	A	criteria provided, single submitter	ClinGen:CA658797478
Indel	NM_000314.8(PTEN):c.540_541delinsGT (p.Tyr180_Leu181delinsTer)	PTEN	Pathogenic	10	89711922	89711923	CC	GT	criteria provided, single submitter	ClinGen:CA658797484
Deletion	NM_000314.8(PTEN):c.70del (p.Asp24fs)	PTEN	Pathogenic	10	89624296	89624296	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter)	PTEN	Pathogenic	10	89690821	89690821	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter)	PTEN	Pathogenic	10	89692780	89692780	T	A	criteria provided, multiple submitters, no conflicts	-

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