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
Deletion	NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer)	PTEN	Pathogenic	10	89624293	89624293	CT	C	criteria provided, single submitter	ClinGen:CA658657996
single nucleotide variant	NM_000314.8(PTEN):c.67T>G (p.Leu23Val)	PTEN	Likely pathogenic	10	89624293	89624293	T	G	reviewed by expert panel	-
Deletion	NM_000314.8(PTEN):c.53del (p.Glu18fs)	PTEN	Pathogenic	10	89624279	89624279	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582753
Deletion	NM_000314.8(PTEN):c.50_51del (p.Gln17fs)	PTEN	Pathogenic	10	89624276	89624277	CAA	C	reviewed by expert panel	ClinGen:CA000167
single nucleotide variant	NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)	PTEN	Pathogenic	10	89624275	89624275	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000485
single nucleotide variant	NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)	PTEN	Pathogenic	10	89624274	89624274	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781944
single nucleotide variant	NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)	PTEN	Pathogenic	10	89624274	89624274	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000471
single nucleotide variant	NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp)	PTEN	Likely pathogenic	10	89624272	89624272	T	G	criteria provided, single submitter	ClinGen:CA16619042
Duplication	NM_000314.8(PTEN):c.47dup (p.Tyr16Ter)	PTEN	Pathogenic	10	89624272	89624273	T	TA	criteria provided, single submitter	ClinGen:CA10577413
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