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
single nucleotide variant	NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781935
Duplication	NM_000314.8(PTEN):c.74dup (p.Leu25fs)	PTEN	Pathogenic	10	89624298	89624299	C	CT	criteria provided, single submitter	ClinGen:CA645369494
single nucleotide variant	NM_000314.8(PTEN):c.104T>C (p.Met35Thr)	PTEN	Likely pathogenic	10	89653806	89653806	T	C	criteria provided, single submitter	ClinGen:CA377784464
Deletion	NM_000314.8(PTEN):c.110_111del (p.Phe37fs)	PTEN	Pathogenic	10	89653811	89653812	ATT	A	criteria provided, single submitter	ClinGen:CA645369428
single nucleotide variant	NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter)	PTEN	Pathogenic	10	89653840	89653840	C	A	criteria provided, single submitter	ClinGen:CA377784551
Deletion	NM_000314.8(PTEN):c.141del (p.Asn48fs)	PTEN	Pathogenic	10	89653842	89653842	AG	A	criteria provided, single submitter	ClinGen:CA470879037
Indel	NM_000314.8(PTEN):c.166_167delinsA (p.Phe56fs)	PTEN	Pathogenic	10	89685271	89685272	TT	A	criteria provided, single submitter	ClinGen:CA645369429
Deletion	NM_000314.8(PTEN):c.179del (p.Lys60fs)	PTEN	Pathogenic	10	89685282	89685282	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA470882616
single nucleotide variant	NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter)	PTEN	Pathogenic	10	89685300	89685300	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377785045
Deletion	NM_000314.8(PTEN):c.199del (p.Ile67fs)	PTEN	Pathogenic	10	89685304	89685304	GA	G	criteria provided, single submitter	ClinGen:CA645369430