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.40dup (p.Arg14fs)	PTEN	Pathogenic	10	89624262	89624263	C	CA	reviewed by expert panel	ClinGen:CA254258,OMIM:601728.0022
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.35A>C (p.Asn12Thr)	PTEN	Pathogenic	10	89624261	89624261	A	C	criteria provided, single submitter	ClinGen:CA377781897
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
Deletion	NM_000314.8(PTEN):c.17_18del (p.Lys6fs)	PTEN	Pathogenic	10	89624242	89624243	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577412
single nucleotide variant	NM_000314.8(PTEN):c.16A>G (p.Lys6Glu)	PTEN	Pathogenic	10	89624242	89624242	A	G	reviewed by expert panel	-
Duplication	NM_000314.8(PTEN):c.18dup (p.Glu7fs)	PTEN	Pathogenic	10	89624241	89624242	C	CA	criteria provided, single submitter	ClinGen:CA658657993
single nucleotide variant	NM_000314.8(PTEN):c.1A>G (p.Met1Val)	PTEN	Pathogenic	10	89624227	89624227	A	G	reviewed by expert panel	ClinGen:CA377781751
Duplication	NM_000314.8(PTEN):c.-60dup	PTEN	Likely pathogenic	10	89624163	89624164	G	GC	criteria provided, single submitter	-
Duplication	NM_000314.8(PTEN):c.-116dup	PTEN	Likely pathogenic	10	89624110	89624111	C	CG	criteria provided, single submitter	-