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.800del (p.Lys267fs)	PTEN	Pathogenic	10	89717770	89717770	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000583
Deletion	NM_000314.8(PTEN):c.956_959del (p.Thr319fs)	PTEN	Pathogenic	10	89720805	89720808	ACTTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000647
Insertion	NM_000314.8(PTEN):c.884_885insTT (p.Cys296fs)	PTEN	Pathogenic	10	89720732	89720733	C	CTT	criteria provided, single submitter	ClinGen:CA000619
single nucleotide variant	NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)	PTEN	Likely pathogenic	10	89692895	89692895	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000426
Deletion	NM_000314.8(PTEN):c.772_773del (p.Phe258fs)	PTEN	Pathogenic	10	89717747	89717748	CTT	C	criteria provided, single submitter	ClinGen:CA000573
single nucleotide variant	NM_000314.8(PTEN):c.493-2A>G	PTEN	Pathogenic	10	89711873	89711873	A	G	reviewed by expert panel	ClinGen:CA000478
Deletion	NM_000314.8(PTEN):c.50_51del (p.Gln17fs)	PTEN	Pathogenic	10	89624276	89624277	CAA	C	reviewed by expert panel	ClinGen:CA000167
single nucleotide variant	NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)	PTEN	Pathogenic	10	89692905	89692905	G	C	reviewed by expert panel	ClinGen:CA000439
single nucleotide variant	NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)	PTEN	Pathogenic	10	89624274	89624274	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000471
single nucleotide variant	NM_000314.8(PTEN):c.520T>A (p.Tyr174Asn)	PTEN	Likely pathogenic	10	89711902	89711902	T	A	reviewed by expert panel	ClinGen:CA000501,UniProtKB:P60484#VAR_026270