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.945T>G (p.Tyr315Ter)	PTEN	Pathogenic	10	89720794	89720794	T	G	criteria provided, single submitter	ClinGen:CA16612915
single nucleotide variant	NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter)	PTEN	Pathogenic	10	89720794	89720794	T	A	criteria provided, single submitter	ClinGen:CA10577421
Duplication	NM_000314.8(PTEN):c.942_949dup (p.Val317delinsAspIleTer)	PTEN	Pathogenic	10	89720790	89720791	A	AATATCTAG	criteria provided, single submitter	ClinGen:CA645369472
single nucleotide variant	NM_000314.8(PTEN):c.940G>T (p.Glu314Ter)	PTEN	Pathogenic	10	89720789	89720789	G	T	criteria provided, single submitter	ClinGen:CA377485931
Deletion	NM_000314.8(PTEN):c.938del (p.Lys313fs)	PTEN	Pathogenic	10	89720786	89720786	CA	C	criteria provided, single submitter	ClinGen:CA470974018
single nucleotide variant	NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)	PTEN	Likely pathogenic	10	89720778	89720778	A	G	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs)	PTEN	Pathogenic	10	89720777	89720778	G	GTT	criteria provided, single submitter	ClinGen:CA658656121
Insertion	NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs)	PTEN	Pathogenic	10	89720777	89720778	G	GGTGCA	criteria provided, single submitter	ClinGen:CA000639
single nucleotide variant	NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)	PTEN	Pathogenic	10	89720768	89720768	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000633
Duplication	NM_000314.8(PTEN):c.917dup (p.Glu307fs)	PTEN	Pathogenic	10	89720765	89720766	A	AT	criteria provided, single submitter	ClinGen:CA658656119