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.287C>T (p.Pro96Leu)	PTEN	Likely pathogenic	10	89692803	89692803	C	T	reviewed by expert panel	ClinGen:CA377482110
Deletion	NM_000314.8(PTEN):c.308_309del (p.Pro103fs)	PTEN	Likely pathogenic	10	89692823	89692824	ACC	A	criteria provided, single submitter	ClinGen:CA658656086
Deletion	NM_000314.8(PTEN):c.380del (p.Gly127fs)	PTEN	Pathogenic	10	89692895	89692895	TG	T	criteria provided, single submitter	ClinGen:CA658656089
single nucleotide variant	NM_000314.8(PTEN):c.1212A>G (p.Ter404Trp)	PTEN	Likely pathogenic	10	89725229	89725229	A	G	criteria provided, single submitter	ClinGen:CA377487507
Deletion	NC_000010.11:g.(?_87931040)_(87933257_?)del	PTEN	Pathogenic	10	89690797	89693014	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)	PTEN	Pathogenic	10	89685309	89685309	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377785065
single nucleotide variant	NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)	PTEN	Pathogenic/Likely pathogenic	10	89692775	89692775	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482046
single nucleotide variant	NM_000314.8(PTEN):c.376G>A (p.Ala126Thr)	PTEN	Likely pathogenic	10	89692892	89692892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377482297
Deletion	NM_000314.8(PTEN):c.399_403del (p.Ile135fs)	PTEN	Pathogenic	10	89692915	89692919	TAATGA	T	criteria provided, single submitter	ClinGen:CA658656090
single nucleotide variant	NM_000314.8(PTEN):c.465T>A (p.Tyr155Ter)	PTEN	Pathogenic	10	89692981	89692981	T	A	criteria provided, single submitter	ClinGen:CA377482779

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