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.781C>T (p.Gln261Ter)	PTEN	Pathogenic	10	89717756	89717756	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000201
Deletion	NM_000314.8(PTEN):c.42del (p.Arg15fs)	PTEN	Pathogenic	10	89624267	89624267	AG	A	criteria provided, single submitter	ClinGen:CA000157
single nucleotide variant	NM_000314.8(PTEN):c.70G>A (p.Asp24Asn)	PTEN	Pathogenic/Likely pathogenic	10	89624296	89624296	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000185
Insertion	NM_000314.8(PTEN):c.81_82insCT (p.Ile28fs)	PTEN	Pathogenic	10	89653782	89653783	A	ATC	criteria provided, single submitter	ClinGen:CA000205
Indel	NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg)	PTEN	Pathogenic/Likely pathogenic	10	89653807	89653808	GG	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA000107
Duplication	NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs)	PTEN	Pathogenic	10	89653832	89653833	G	GGCGT	criteria provided, single submitter	ClinGen:CA194636
single nucleotide variant	NM_000314.8(PTEN):c.165-1G>A	PTEN	Likely pathogenic	10	89685269	89685269	G	A	reviewed by expert panel	ClinGen:CA000129
single nucleotide variant	NM_000314.8(PTEN):c.170T>G (p.Leu57Trp)	PTEN	Likely pathogenic	10	89685275	89685275	T	G	reviewed by expert panel	ClinGen:CA000131,UniProtKB:P60484#VAR_007460
single nucleotide variant	NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)	PTEN	Pathogenic/Likely pathogenic	10	89692886	89692886	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000149
single nucleotide variant	NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)	PTEN	Pathogenic	10	89692922	89692922	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000151

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