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.302T>A (p.Ile101Asn)	PTEN	Pathogenic/Likely pathogenic	10	89692818	89692818	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000314.8(PTEN):c.277C>T (p.His93Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692793	89692793	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000314.8(PTEN):c.226del (p.Tyr76fs)	PTEN	Pathogenic/Likely pathogenic	10	89690818	89690818	AT	A	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.209+2T>C	PTEN	Pathogenic/Likely pathogenic	10	89685316	89685316	T	C	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	-
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	-
Duplication	NM_000314.8(PTEN):c.300dup (p.Ile101fs)	PTEN	Pathogenic/Likely pathogenic	10	89692814	89692815	C	CT	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter)	PTEN	Pathogenic/Likely pathogenic	10	89711904	89711904	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484313