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.209+5G>A	PTEN	Pathogenic	10	89685319	89685319	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369431
Deletion	NM_000314.8(PTEN):c.210-2_211del	PTEN	Pathogenic	10	89690799	89690802	TTTAG	T	reviewed by expert panel	ClinGen:CA658656080
single nucleotide variant	NM_000314.8(PTEN):c.210-1G>A	PTEN	Pathogenic	10	89690802	89690802	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377481229
single nucleotide variant	NM_000314.8(PTEN):c.253+5G>A	PTEN	Likely pathogenic	10	89690851	89690851	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656081
single nucleotide variant	NM_000314.8(PTEN):c.253+5G>T	PTEN	Pathogenic	10	89690851	89690851	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645553783
single nucleotide variant	NM_000314.8(PTEN):c.492+1G>T	PTEN	Likely pathogenic	10	89693009	89693009	G	T	reviewed by expert panel	ClinGen:CA377482840
single nucleotide variant	NM_000314.8(PTEN):c.634+1G>C	PTEN	Pathogenic	10	89712017	89712017	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484725
single nucleotide variant	NM_000314.8(PTEN):c.634+2T>C	PTEN	Pathogenic	10	89712018	89712018	T	C	reviewed by expert panel	ClinGen:CA377484731
single nucleotide variant	NM_000314.8(PTEN):c.634+5G>C	PTEN	Likely pathogenic	10	89712021	89712021	G	C	reviewed by expert panel	ClinGen:CA645509438
single nucleotide variant	NM_000314.8(PTEN):c.1027-2A>C	PTEN	Pathogenic	10	89725042	89725042	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377487087

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