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.632dup (p.Cys211fs)	PTEN	Pathogenic	10	89712013	89712014	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA470667810
Deletion	NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del)	PTEN	Likely pathogenic	10	89717711	89717716	GCCGTTA	G	criteria provided, single submitter	ClinGen:CA645369484
single nucleotide variant	NM_000314.8(PTEN):c.740T>G (p.Leu247Ter)	PTEN	Pathogenic	10	89717715	89717715	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484972
Deletion	NM_000314.8(PTEN):c.740del (p.Leu247fs)	PTEN	Pathogenic	10	89717714	89717714	GT	G	criteria provided, single submitter	ClinGen:CA645369485
Indel	NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val)	PTEN	Likely pathogenic	10	89717727	89717728	GT	TG	criteria provided, single submitter	ClinGen:CA645369486
Duplication	NM_000314.8(PTEN):c.757dup (p.Ile253fs)	PTEN	Pathogenic	10	89717731	89717732	T	TA	criteria provided, single submitter	ClinGen:CA645369487
single nucleotide variant	NM_000314.8(PTEN):c.761A>C (p.Lys254Thr)	PTEN	Likely pathogenic	10	89717736	89717736	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485016
Duplication	NM_000314.8(PTEN):c.791_792dup (p.Leu265fs)	PTEN	Pathogenic	10	89717765	89717766	A	ATG	criteria provided, single submitter	ClinGen:CA645369488
single nucleotide variant	NM_000314.8(PTEN):c.801+2T>A	PTEN	Pathogenic	10	89717778	89717778	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377485118
Deletion	NM_000314.8(PTEN):c.813del (p.His272fs)	PTEN	Pathogenic	10	89720660	89720660	GT	G	criteria provided, single submitter	ClinGen:CA470973897