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.132dup (p.Val45fs)	PTEN	Pathogenic	10	89653833	89653834	G	GC	criteria provided, single submitter	ClinGen:CA10582754
single nucleotide variant	NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)	PTEN	Pathogenic	10	89685300	89685300	C	G	reviewed by expert panel	ClinGen:CA10582757
single nucleotide variant	NM_000314.8(PTEN):c.209+2T>A	PTEN	Pathogenic	10	89685316	89685316	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582758
Duplication	NM_000314.8(PTEN):c.545dup (p.Leu182fs)	PTEN	Pathogenic	10	89711925	89711926	G	GT	criteria provided, single submitter	ClinGen:CA10582761
single nucleotide variant	NM_000314.8(PTEN):c.877G>T (p.Gly293Ter)	PTEN	Pathogenic	10	89720726	89720726	G	T	criteria provided, single submitter	ClinGen:CA10582766
single nucleotide variant	NM_000314.8(PTEN):c.286C>G (p.Pro96Ala)	PTEN	Pathogenic	10	89692802	89692802	C	G	criteria provided, single submitter	ClinGen:CA10603074
single nucleotide variant	NM_000314.8(PTEN):c.633C>G (p.Cys211Trp)	PTEN	Pathogenic	10	89712015	89712015	C	G	reviewed by expert panel	ClinGen:CA10603125
Duplication	NM_000314.8(PTEN):c.392_393dup (p.Gly132fs)	PTEN	Pathogenic	10	89692907	89692908	A	ACT	criteria provided, single submitter	ClinGen:CA10603165
single nucleotide variant	NM_000314.8(PTEN):c.634+5G>A	PTEN	Pathogenic	10	89712021	89712021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603167
Deletion	NM_000314.8(PTEN):c.870del (p.Glu291fs)	PTEN	Pathogenic	10	89720719	89720719	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603172