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.318del (p.Asp107fs)	PTEN	Pathogenic	10	89692833	89692833	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter)	PTEN	Pathogenic	10	89692930	89692930	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.744del (p.Val249fs)	PTEN	Pathogenic	10	89717719	89717719	CT	C	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.763dup (p.Val255fs)	PTEN	Pathogenic	10	89717737	89717738	A	AG	criteria provided, single submitter	-
Insertion	NM_000314.8(PTEN):c.865_866insTTCT (p.Lys289fs)	PTEN	Pathogenic	10	89720714	89720715	A	ATTCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)	PTEN	Likely pathogenic	10	89692980	89692980	A	C	criteria provided, single submitter	-
Insertion	NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs)	PTEN	Pathogenic/Likely pathogenic	10	89720714	89720715	A	ACT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000314.8(PTEN):c.300dup (p.Ile101fs)	PTEN	Pathogenic/Likely pathogenic	10	89692814	89692815	C	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)	PTEN	Pathogenic/Likely pathogenic	10	89692818	89692819	T	TCAAAC	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000314.6(PTEN):c.866_867insGA (p.Val290Lysfs)	PTEN	Likely pathogenic	10	89720714	89720715	A	AAG	criteria provided, single submitter	-