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.386G>A (p.Gly129Glu)	PTEN	Pathogenic	10	89692902	89692902	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000431,UniProtKB:P60484#VAR_007465,OMIM:601728.0001
single nucleotide variant	NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	PTEN	Pathogenic	10	89717672	89717672	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000549,OMIM:601728.0002
single nucleotide variant	NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)	PTEN	Pathogenic	10	89692985	89692985	G	T	reviewed by expert panel	ClinGen:CA000467,OMIM:601728.0003
single nucleotide variant	NM_000314.8(PTEN):c.510T>A (p.Ser170Arg)	PTEN	Pathogenic	10	89711892	89711892	T	A	reviewed by expert panel	ClinGen:CA000492,UniProtKB:P60484#VAR_007470,OMIM:601728.0004
single nucleotide variant	NM_000314.8(PTEN):c.368A>G (p.His123Arg)	PTEN	Pathogenic	10	89692884	89692884	A	G	reviewed by expert panel	ClinGen:CA000418,UniProtKB:P60484#VAR_007463,OMIM:601728.0005
single nucleotide variant	NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)	PTEN	Pathogenic	10	89692886	89692886	T	C	reviewed by expert panel	ClinGen:CA000422,UniProtKB:P60484#VAR_007464,OMIM:601728.0006
Deletion	NM_000314.8(PTEN):c.347_351del (p.Asp116fs)	PTEN	Pathogenic	10	89692863	89692867	GACAAT	G	criteria provided, single submitter	ClinGen:CA000407,OMIM:601728.0028
single nucleotide variant	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN	Pathogenic	10	89692904	89692904	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000433,OMIM:601728.0007
single nucleotide variant	NM_000314.8(PTEN):c.253+1G>A	PTEN	Pathogenic	10	89690847	89690847	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000362,OMIM:601728.0008
single nucleotide variant	NM_000314.8(PTEN):c.492+2T>G	PTEN	Likely pathogenic	10	89693010	89693010	T	G	reviewed by expert panel	ClinGen:CA000475,OMIM:601728.0009