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>G (p.Pro96Arg)	PTEN	Likely pathogenic	10	89692803	89692803	C	G	criteria provided, single submitter	ClinGen:CA377482109
single nucleotide variant	NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)	PTEN	Pathogenic	10	89711947	89711947	A	T	criteria provided, single submitter	ClinGen:CA377484465
single nucleotide variant	NM_000314.8(PTEN):c.19G>T (p.Glu7Ter)	PTEN	Likely pathogenic	10	89624245	89624245	G	T	criteria provided, single submitter	ClinGen:CA377781832
Duplication	NM_000314.8(PTEN):c.551dup (p.Asn184fs)	PTEN	Pathogenic	10	89711931	89711932	G	GA	criteria provided, single submitter	ClinGen:CA470667649
single nucleotide variant	NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)	PTEN	Pathogenic/Likely pathogenic	10	89711904	89711904	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484313
single nucleotide variant	NM_000314.8(PTEN):c.277C>A (p.His93Asn)	PTEN	Likely pathogenic	10	89692793	89692793	C	A	criteria provided, single submitter	ClinGen:CA377482088
Deletion	NC_000010.11:g.(?_87952112)_(87952265_?)del	PTEN	Pathogenic	10	89711869	89712022	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.202T>G (p.Tyr68Asp)	PTEN	Likely pathogenic	10	89685307	89685307	T	G	criteria provided, single submitter	ClinGen:CA377785061
single nucleotide variant	NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)	PTEN	Pathogenic	10	89624274	89624274	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781944
Deletion	NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer)	PTEN	Pathogenic	10	89692792	89692807	ACCATAACCCACCACAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645553797

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