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.1027-2A>G	PTEN	Pathogenic	10	89725042	89725042	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377487088
single nucleotide variant	NM_000314.8(PTEN):c.1026+2T>G	PTEN	Pathogenic/Likely pathogenic	10	89720877	89720877	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377486192
single nucleotide variant	NM_000314.8(PTEN):c.1026+1G>T	PTEN	Pathogenic	10	89720876	89720876	G	T	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_000314.8(PTEN):c.1026+1G>A	PTEN	Pathogenic	10	89720876	89720876	G	A	reviewed by expert panel	ClinGen:CA000103
Deletion	NM_000314.8(PTEN):c.1026+1del	PTEN	Likely pathogenic	10	89720875	89720875	AG	A	criteria provided, single submitter	-
Deletion	NM_000314.8(PTEN):c.1023del (p.Phe341fs)	PTEN	Likely pathogenic	10	89720869	89720869	AT	A	criteria provided, single submitter	-
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.1008C>G (p.Tyr336Ter)	PTEN	Pathogenic	10	89720857	89720857	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377486136
Duplication	NM_000314.8(PTEN):c.1006dup (p.Tyr336fs)	PTEN	Pathogenic	10	89720854	89720855	A	AT	criteria provided, single submitter	ClinGen:CA658656126