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
single nucleotide variant	NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)	PTEN	Pathogenic	10	89624242	89624242	A	G	reviewed by expert panel	-
Deletion	NM_000314.8(PTEN):c.17_18del (p.Lys6fs)	PTEN	Pathogenic	10	89624242	89624243	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577412
Duplication	NM_000314.8(PTEN):c.18dup (p.Glu7fs)	PTEN	Pathogenic	10	89624241	89624242	C	CA	criteria provided, single submitter	ClinGen:CA658657993
single nucleotide variant	NM_000314.8(PTEN):c.1A>G (p.Met1Val)	PTEN	Pathogenic	10	89624227	89624227	A	G	reviewed by expert panel	ClinGen:CA377781751
Duplication	NM_000314.8(PTEN):c.-60dup	PTEN	Likely pathogenic	10	89624163	89624164	G	GC	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.-116dup	PTEN	Likely pathogenic	10	89624110	89624111	C	CG	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87863171)_(87864558_?)del	PTEN	Pathogenic	10	89622928	89624315	na	na	criteria provided, single submitter	-
Deletion	NC_000010.10:g.(?_89622928)_(89712026_?)del	PTEN	Pathogenic	10	89622928	89712026	na	na	criteria provided, single submitter	-
Duplication	Single allele	PTEN	Pathogenic	10	89589557	89642550	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_86875868)_(87894129_?)del	PTEN	Pathogenic	10	88635625	89653886	na	na	criteria provided, single submitter	-