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.987_990del (p.Asn329fs)	PTEN	Pathogenic	10	89720833	89720836	CAAAT	C	reviewed by expert panel	ClinGen:CA000656
single nucleotide variant	NM_000314.8(PTEN):c.1026+1G>C	PTEN	Pathogenic	10	89720876	89720876	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000253
Deletion	NM_000314.8(PTEN):c.389del (p.Arg130fs)	PTEN	Pathogenic	10	89692905	89692905	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000435
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
Duplication	NM_000314.8(PTEN):c.1048dup (p.Thr350fs)	PTEN	Pathogenic	10	89725060	89725061	C	CA	criteria provided, single submitter	ClinGen:CA250392
Deletion	NM_000314.8(PTEN):c.900del (p.Ile300fs)	PTEN	Pathogenic	10	89720749	89720749	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA209097
single nucleotide variant	NM_000314.8(PTEN):c.422A>C (p.His141Pro)	PTEN	Likely pathogenic	10	89692938	89692938	A	C	reviewed by expert panel	ClinGen:CA337448
single nucleotide variant	NM_000314.8(PTEN):c.437T>G (p.Leu146Ter)	PTEN	Pathogenic	10	89692953	89692953	T	G	criteria provided, single submitter	ClinGen:CA338319
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.521A>G (p.Tyr174Cys)	PTEN	Likely pathogenic	10	89711903	89711903	A	G	reviewed by expert panel	ClinGen:CA349032