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.45A>T (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619041
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.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
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
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
Duplication	NM_000314.8(PTEN):c.40dup (p.Arg14fs)	PTEN	Pathogenic	10	89624262	89624263	C	CA	reviewed by expert panel	ClinGen:CA254258,OMIM:601728.0022
single nucleotide variant	NM_000314.8(PTEN):c.35A>C (p.Asn12Thr)	PTEN	Pathogenic	10	89624261	89624261	A	C	criteria provided, single submitter	ClinGen:CA377781897
Deletion	NM_000314.8(PTEN):c.21_37del (p.Ile8fs)	PTEN	Pathogenic	10	89624246	89624262	GAGATCGTTAGCAGAAAC	G	criteria provided, single submitter	ClinGen:CA000354
single nucleotide variant	NM_000314.8(PTEN):c.19G>T (p.Glu7Ter)	PTEN	Likely pathogenic	10	89624245	89624245	G	T	criteria provided, single submitter	ClinGen:CA377781832