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.44G>A (p.Arg15Lys)	PTEN	Likely pathogenic	10	89624270	89624270	G	A	reviewed by expert panel	ClinGen:CA16613142
single nucleotide variant	NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)	PTEN	Pathogenic	10	89685281	89685281	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613155
Duplication	NM_000314.8(PTEN):c.346_358dup (p.Ala120fs)	PTEN	Pathogenic	10	89692861	89692862	T	TGACAATCATGTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613158
single nucleotide variant	NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)	PTEN	Pathogenic	10	89717650	89717650	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613166
single nucleotide variant	NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)	PTEN	Likely pathogenic	10	89653782	89653782	A	G	reviewed by expert panel	ClinGen:CA16613238
single nucleotide variant	NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	PTEN	Pathogenic	10	89692980	89692980	A	G	reviewed by expert panel	ClinGen:CA16613246
Deletion	NM_000314.8(PTEN):c.629del (p.Thr210fs)	PTEN	Pathogenic	10	89712011	89712011	AC	A	criteria provided, single submitter	ClinGen:CA16613255
single nucleotide variant	NM_000314.8(PTEN):c.45A>T (p.Arg15Ser)	PTEN	Pathogenic/Likely pathogenic	10	89624271	89624271	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619041
single nucleotide variant	NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp)	PTEN	Likely pathogenic	10	89624272	89624272	T	G	criteria provided, single submitter	ClinGen:CA16619042
single nucleotide variant	NM_000314.8(PTEN):c.113C>G (p.Pro38Arg)	PTEN	Pathogenic	10	89653815	89653815	C	G	criteria provided, single submitter	ClinGen:CA16619045