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.48T>A (p.Tyr16Ter)	PTEN	Pathogenic	10	89624274	89624274	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000471
Duplication	NM_000314.8(PTEN):c.47dup (p.Tyr16Ter)	PTEN	Pathogenic	10	89624272	89624273	T	TA	criteria provided, single submitter	ClinGen:CA10577413
single nucleotide variant	NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp)	PTEN	Likely pathogenic	10	89624272	89624272	T	G	criteria provided, single submitter	ClinGen:CA16619042
Duplication	NM_000314.8(PTEN):c.46dup (p.Tyr16fs)	PTEN	Pathogenic	10	89624271	89624272	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA300537
single nucleotide variant	NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781935
single nucleotide variant	NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619041
single nucleotide variant	NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)	PTEN	Likely pathogenic	10	89624270	89624270	G	A	reviewed by expert panel	ClinGen:CA16613142
Deletion	NM_000314.8(PTEN):c.42del (p.Arg15fs)	PTEN	Pathogenic	10	89624267	89624267	AG	A	criteria provided, single submitter	ClinGen:CA000157
Deletion	NM_000314.8(PTEN):c.39_40del (p.Arg14fs)	PTEN	Pathogenic/Likely pathogenic	10	89624263	89624264	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657994
single nucleotide variant	NM_000314.8(PTEN):c.37A>T (p.Lys13Ter)	PTEN	Pathogenic	10	89624263	89624263	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377781906