PTEN過誤腫症候群

腫瘍性疾患

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.829dup (p.Thr277fs)	PTEN	Pathogenic	10	89720677	89720678	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.840_841del (p.Pro281fs)	PTEN	Pathogenic	10	89720689	89720690	TAC	T	criteria provided, single submitter	-
Indel	NM_000314.8(PTEN):c.863_865delinsCT (p.Glu288fs)	PTEN	Pathogenic	10	89720712	89720714	AAA	CT	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.956_960del (p.Thr319fs)	PTEN	Pathogenic	10	89720802	89720806	CTTACT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.968del (p.Asn323fs)	PTEN	Pathogenic	10	89720812	89720812	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000010.11:g.(?_86875868)_(87894129_?)del	PTEN	Pathogenic	10	88635625	89653886	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87931026)_(87958039_?)del	PTEN	Pathogenic	10	89690783	89717796	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87894015)_(87965482_?)del	PTEN	Pathogenic	10	89653772	89725239	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87931036)_(87931099_?)del	PTEN	Pathogenic	10	89690793	89690856	na	na	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.723del (p.Phe241fs)	PTEN	Pathogenic	10	89717696	89717696	CT	C	criteria provided, multiple submitters, no conflicts	-