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.845del (p.Gly282fs)	PTEN	Pathogenic	10	89720693	89720693	AG	A	criteria provided, single submitter	ClinGen:CA349057
Duplication	NM_000314.8(PTEN):c.987_996dup (p.Ala333Ter)	PTEN	Pathogenic	10	89720831	89720832	G	GCAAATAAAGA	criteria provided, single submitter	ClinGen:CA350854
single nucleotide variant	NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)	PTEN	Likely pathogenic	10	89717715	89717715	T	C	reviewed by expert panel	ClinGen:CA16044135
single nucleotide variant	NM_000314.8(PTEN):c.118G>T (p.Glu40Ter)	PTEN	Pathogenic	10	89653820	89653820	G	T	criteria provided, single submitter	ClinGen:CA357808
Deletion	NM_000314.8(PTEN):c.424del (p.Arg142fs)	PTEN	Pathogenic	10	89692940	89692940	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA357775
single nucleotide variant	NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)	PTEN	Likely pathogenic	10	89693002	89693002	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357794
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.47dup (p.Tyr16Ter)	PTEN	Pathogenic	10	89624272	89624273	T	TA	criteria provided, single submitter	ClinGen:CA10577413
single nucleotide variant	NM_000314.8(PTEN):c.67T>G (p.Leu23Val)	PTEN	Likely pathogenic	10	89624293	89624293	T	G	reviewed by expert panel	-
single nucleotide variant	NM_000314.8(PTEN):c.76A>C (p.Thr26Pro)	PTEN	Pathogenic	10	89624302	89624302	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577415