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
single nucleotide variant	NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)	PTEN	Pathogenic	10	89692964	89692964	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000460
Deletion	NM_000314.8(PTEN):c.491del (p.Lys164fs)	PTEN	Pathogenic	10	89693003	89693003	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000473
single nucleotide variant	NM_000314.8(PTEN):c.493-1G>A	PTEN	Pathogenic	10	89711874	89711874	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000477
single nucleotide variant	NM_000314.8(PTEN):c.494G>T (p.Gly165Val)	PTEN	Pathogenic	10	89711876	89711876	G	T	criteria provided, single submitter	UniProtKB:P60484#VAR_008738
single nucleotide variant	NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)	PTEN	Pathogenic	10	89711893	89711893	C	T	reviewed by expert panel	ClinGen:CA000494
single nucleotide variant	NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	PTEN	Pathogenic	10	89711899	89711899	C	T	reviewed by expert panel	ClinGen:CA000498,UniProtKB:P60484#VAR_026267
Indel	NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer)	PTEN	Pathogenic	10	89711929	89711931	AAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000513
Deletion	NM_000314.8(PTEN):c.585del (p.His196fs)	PTEN	Pathogenic	10	89711965	89711965	GT	G	criteria provided, single submitter	ClinGen:CA000525
single nucleotide variant	NM_000314.8(PTEN):c.610C>G (p.Pro204Ala)	PTEN	Likely pathogenic	10	89711992	89711992	C	G	reviewed by expert panel	ClinGen:CA000535
Insertion	NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs)	PTEN	Pathogenic/Likely pathogenic	10	89717713	89717714	G	GTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA000560

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