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
Duplication	NM_000314.8(PTEN):c.996dup (p.Ala333fs)	PTEN	Pathogenic	10	89720842	89720843	C	CA	criteria provided, single submitter	ClinGen:CA645554132
single nucleotide variant	NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)	PTEN	Pathogenic	10	89624263	89624263	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781906
Deletion	NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer)	PTEN	Pathogenic	10	89624293	89624293	CT	C	criteria provided, single submitter	ClinGen:CA658657996
Deletion	NM_000314.8(PTEN):c.165-17_165del	PTEN	Likely pathogenic	10	89685253	89685270	TGTTTGTTTTGTTTTAAGG	T	criteria provided, single submitter	ClinGen:CA658656072
single nucleotide variant	NM_000314.8(PTEN):c.209+6T>G	PTEN	Pathogenic	10	89685320	89685320	T	G	criteria provided, single submitter	ClinGen:CA658656078
Indel	NM_000314.8(PTEN):c.485_487delinsCC (p.Asp162fs)	PTEN	Pathogenic	10	89693001	89693003	ACA	CC	criteria provided, single submitter	ClinGen:CA658656091
single nucleotide variant	NM_000314.8(PTEN):c.593T>A (p.Met198Lys)	PTEN	Likely pathogenic	10	89711975	89711975	T	A	criteria provided, single submitter	ClinGen:CA377484567
single nucleotide variant	NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)	PTEN	Pathogenic	10	89712007	89712007	G	T	criteria provided, single submitter	ClinGen:CA377484690
Insertion	NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs)	PTEN	Pathogenic	10	89717695	89717696	C	CCA	criteria provided, single submitter	ClinGen:CA658656110
Duplication	NM_000314.8(PTEN):c.127dup (p.Glu43fs)	PTEN	Pathogenic	10	89653828	89653829	T	TG	criteria provided, single submitter	ClinGen:CA658658002

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