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.475A>G (p.Arg159Gly)	PTEN	Pathogenic/Likely pathogenic	10	89692991	89692991	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000161
single nucleotide variant	NM_000314.8(PTEN):c.518G>C (p.Arg173Pro)	PTEN	Pathogenic/Likely pathogenic	10	89711900	89711900	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000169,UniProtKB:P60484#VAR_026269
single nucleotide variant	NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)	PTEN	Pathogenic	10	89711922	89711922	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000175
Duplication	NM_000314.8(PTEN):c.706dup (p.Asp236fs)	PTEN	Pathogenic	10	89717680	89717681	A	AG	criteria provided, single submitter	ClinGen:CA193235
single nucleotide variant	NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)	PTEN	Pathogenic	10	89717708	89717708	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000193
single nucleotide variant	NM_000314.8(PTEN):c.850G>T (p.Glu284Ter)	PTEN	Pathogenic	10	89720699	89720699	G	T	criteria provided, single submitter	ClinGen:CA000213
single nucleotide variant	NM_000314.8(PTEN):c.892C>T (p.Gln298Ter)	PTEN	Pathogenic	10	89720741	89720741	C	T	reviewed by expert panel	ClinGen:CA000219
single nucleotide variant	NM_000314.8(PTEN):c.964A>T (p.Lys322Ter)	PTEN	Likely pathogenic	10	89720813	89720813	A	T	reviewed by expert panel	ClinGen:CA000235
single nucleotide variant	NM_000314.8(PTEN):c.1026+1G>A	PTEN	Pathogenic	10	89720876	89720876	G	A	reviewed by expert panel	ClinGen:CA000103
Deletion	NM_000314.8(PTEN):c.21_37del (p.Ile8fs)	PTEN	Pathogenic	10	89624246	89624262	GAGATCGTTAGCAGAAAC	G	criteria provided, single submitter	ClinGen:CA000354