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.968dup (p.Asn323fs)	PTEN	Pathogenic	10	89720811	89720812	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA270877
single nucleotide variant	NM_000314.8(PTEN):c.959T>A (p.Leu320Ter)	PTEN	Pathogenic	10	89720808	89720808	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)	PTEN	Pathogenic	10	89720808	89720808	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485997
Deletion	NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer)	PTEN	Pathogenic	10	89720806	89720806	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369476
Deletion	NM_000314.8(PTEN):c.956_959del (p.Thr319fs)	PTEN	Pathogenic	10	89720805	89720808	ACTTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000647
Duplication	NM_000314.8(PTEN):c.955dup (p.Thr319fs)	PTEN	Pathogenic	10	89720803	89720804	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA300542
Deletion	NM_000314.8(PTEN):c.956_960del (p.Thr319fs)	PTEN	Pathogenic	10	89720802	89720806	CTTACT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.949del (p.Val317fs)	PTEN	Pathogenic	10	89720798	89720798	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578931
Deletion	NM_000314.8(PTEN):c.947del (p.Leu316fs)	PTEN	Pathogenic	10	89720796	89720796	CT	C	criteria provided, single submitter	ClinGen:CA645294059
single nucleotide variant	NM_000314.8(PTEN):c.945T>G (p.Tyr315Ter)	PTEN	Pathogenic	10	89720794	89720794	T	G	criteria provided, single submitter	ClinGen:CA16612915