PTEN過誤腫症候群

腫瘍性疾患

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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.-116dup	PTEN	Likely pathogenic	10	89624110	89624111	C	CG	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.-60dup	PTEN	Likely pathogenic	10	89624163	89624164	G	GC	criteria provided, single submitter	-
Deletion	NC_000010.10:g.(?_89622928)_(89712026_?)del	PTEN	Pathogenic	10	89622928	89712026	na	na	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.350_353del (p.Asn117fs)	PTEN	Pathogenic	10	89692864	89692867	ACAAT	A	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.490_491del (p.Lys164fs)	PTEN	Pathogenic	10	89693003	89693004	CAA	C	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.548_551del (p.Lys183fs)	PTEN	Pathogenic	10	89711928	89711931	TAAAG	T	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_87863171)_(87864558_?)del	PTEN	Pathogenic	10	89622928	89624315	na	na	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.209+1_209+2del	PTEN	Pathogenic	10	89685314	89685315	CTG	C	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.492+1del	PTEN	Pathogenic	10	89693008	89693008	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.508A>C (p.Ser170Arg)	PTEN	Pathogenic	10	89711890	89711890	A	C	criteria provided, multiple submitters, no conflicts	-