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
Deletion	NM_000314.8(PTEN):c.1016del (p.Pro339fs)	PTEN	Pathogenic	10	89720864	89720864	TC	T	criteria provided, single submitter	ClinGen:CA645372880
single nucleotide variant	NM_000314.8(PTEN):c.196A>T (p.Lys66Ter)	PTEN	Pathogenic/Likely pathogenic	10	89685301	89685301	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377785047
Deletion	NM_000314.8(PTEN):c.309del (p.Cys105fs)	PTEN	Pathogenic/Likely pathogenic	10	89692823	89692823	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509436
Indel	NM_000314.8(PTEN):c.386_387delinsTT (p.Gly129Val)	PTEN	Pathogenic	10	89692902	89692903	GA	TT	criteria provided, single submitter	ClinGen:CA645509437
Duplication	NM_000314.8(PTEN):c.548dup (p.Asn184fs)	PTEN	Pathogenic	10	89711927	89711928	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA470667643
single nucleotide variant	NM_000314.8(PTEN):c.635-1G>T	PTEN	Pathogenic/Likely pathogenic	10	89717609	89717609	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377484747
Deletion	NM_000314.8(PTEN):c.705del (p.Asp236fs)	PTEN	Pathogenic	10	89717679	89717679	GA	G	criteria provided, single submitter	ClinGen:CA645509439
Deletion	NM_000314.8(PTEN):c.938del (p.Lys313fs)	PTEN	Pathogenic	10	89720786	89720786	CA	C	criteria provided, single submitter	ClinGen:CA470974018
single nucleotide variant	NM_000314.8(PTEN):c.249C>A (p.Cys83Ter)	PTEN	Pathogenic	10	89690842	89690842	C	A	criteria provided, single submitter	ClinGen:CA377481401
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