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.389G>T (p.Arg130Leu)	PTEN	Pathogenic/Likely pathogenic	10	89692905	89692905	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602940
single nucleotide variant	NM_000314.8(PTEN):c.518G>A (p.Arg173His)	PTEN	Pathogenic/Likely pathogenic	10	89711900	89711900	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA060209
single nucleotide variant	NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692887	89692887	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578914
Duplication	NM_000314.8(PTEN):c.253+1dup	PTEN	Pathogenic/Likely pathogenic	10	89690845	89690846	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578912
single nucleotide variant	NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	PTEN	Pathogenic/Likely pathogenic	10	89720709	89720709	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279050
single nucleotide variant	NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	PTEN	Pathogenic/Likely pathogenic	10	89624297	89624297	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA204760
Insertion	NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs)	PTEN	Pathogenic/Likely pathogenic	10	89717713	89717714	G	GTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA000560
single nucleotide variant	NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	PTEN	Pathogenic/Likely pathogenic	10	89692901	89692901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000429,UniProtKB:P60484#VAR_007466
single nucleotide variant	NM_000314.8(PTEN):c.367C>T (p.His123Tyr)	PTEN	Pathogenic/Likely pathogenic	10	89692883	89692883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000417,UniProtKB:P60484#VAR_026260
single nucleotide variant	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN	Pathogenic/Likely pathogenic	10	89685307	89685307	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000342,UniProtKB:P60484#VAR_007462