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.80-1G>C	PTEN	Likely pathogenic	10	89653781	89653781	G	C	reviewed by expert panel	ClinGen:CA000586
single nucleotide variant	NM_000314.8(PTEN):c.277C>G (p.His93Asp)	PTEN	Likely pathogenic	10	89692793	89692793	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.320A>G (p.Asp107Gly)	PTEN	Likely pathogenic	10	89692836	89692836	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000314.8(PTEN):c.610C>G (p.Pro204Ala)	PTEN	Likely pathogenic	10	89711992	89711992	C	G	reviewed by expert panel	ClinGen:CA000535
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.521A>G (p.Tyr174Cys)	PTEN	Likely pathogenic	10	89711903	89711903	A	G	reviewed by expert panel	ClinGen:CA349032
single nucleotide variant	NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)	PTEN	Likely pathogenic	10	89717715	89717715	T	C	reviewed by expert panel	ClinGen:CA16044135
single nucleotide variant	NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)	PTEN	Likely pathogenic	10	89693002	89693002	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357794
single nucleotide variant	NM_000314.8(PTEN):c.67T>G (p.Leu23Val)	PTEN	Likely pathogenic	10	89624293	89624293	T	G	reviewed by expert panel	-
single nucleotide variant	NM_000314.8(PTEN):c.242T>G (p.Phe81Cys)	PTEN	Likely pathogenic	10	89690835	89690835	T	G	criteria provided, single submitter	ClinGen:CA10577417