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.959T>A (p.Leu320Ter)	PTEN	Pathogenic	10	89720808	89720808	T	A	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.92del (p.Asn31fs)	PTEN	Pathogenic	10	89653792	89653792	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000314.8(PTEN):c.131dup (p.Val45fs)	PTEN	Pathogenic	10	89653831	89653832	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)	PTEN	Pathogenic	10	89653846	89653846	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.210-2A>G	PTEN	Pathogenic/Likely pathogenic	10	89690801	89690801	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.385G>C (p.Gly129Arg)	PTEN	Pathogenic	10	89692901	89692901	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.740T>A (p.Leu247Ter)	PTEN	Pathogenic	10	89717715	89717715	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.209+2T>C	PTEN	Pathogenic/Likely pathogenic	10	89685316	89685316	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer)	PTEN	Pathogenic/Likely pathogenic	10	89720733	89720734	CTA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.635-2A>G	PTEN	Pathogenic	10	89717608	89717608	A	G	criteria provided, multiple submitters, no conflicts	-