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.352_353del (p.His118fs)	PTEN	Pathogenic	10	89692868	89692869	TCA	T	criteria provided, single submitter	ClinGen:CA10577416
single nucleotide variant	NM_000314.8(PTEN):c.242T>G (p.Phe81Cys)	PTEN	Likely pathogenic	10	89690835	89690835	T	G	criteria provided, single submitter	ClinGen:CA10577417
single nucleotide variant	NM_000314.8(PTEN):c.492+2T>C	PTEN	Pathogenic	10	89693010	89693010	T	C	criteria provided, single submitter	ClinGen:CA10577418
single nucleotide variant	NM_000314.8(PTEN):c.635-1G>C	PTEN	Pathogenic	10	89717609	89717609	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577419
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
Deletion	NM_000314.8(PTEN):c.97_98del (p.Ile33fs)	PTEN	Pathogenic	10	89653798	89653799	TTA	T	criteria provided, single submitter	ClinGen:CA10578905
single nucleotide variant	NM_000314.8(PTEN):c.103A>G (p.Met35Val)	PTEN	Likely pathogenic	10	89653805	89653805	A	G	reviewed by expert panel	ClinGen:CA10578906
single nucleotide variant	NM_000314.8(PTEN):c.144C>G (p.Asn48Lys)	PTEN	Pathogenic	10	89653846	89653846	C	G	criteria provided, single submitter	ClinGen:CA10578908
single nucleotide variant	NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	PTEN	Pathogenic	10	89685308	89685308	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578910
single nucleotide variant	NM_000314.8(PTEN):c.209+1G>T	PTEN	Pathogenic	10	89685315	89685315	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578911