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.492+2T>G	PTEN	Likely pathogenic	10	89693010	89693010	T	G	reviewed by expert panel	ClinGen:CA000475,OMIM:601728.0009
Deletion	NM_000314.8(PTEN):c.696del (p.Arg233fs)	PTEN	Likely pathogenic	10	89717671	89717671	CA	C	reviewed by expert panel	ClinGen:CA000548,OMIM:601728.0010
single nucleotide variant	NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)	PTEN	Likely pathogenic	10	89685314	89685314	T	C	reviewed by expert panel	ClinGen:CA000350,UniProtKB:P60484#VAR_018102,OMIM:601728.0012
Deletion	NM_000314.8(PTEN):c.761_765del (p.Lys254fs)	PTEN	Likely pathogenic	10	89717735	89717739	CAAAGT	C	reviewed by expert panel	ClinGen:CA000566,COSMIC:COSM4933,OMIM:601728.0018
single nucleotide variant	NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)	PTEN	Likely pathogenic	10	89711946	89711946	T	A	reviewed by expert panel	ClinGen:CA000521,COSMIC:COSM1133053,OMIM:601728.0019
Deletion	NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)	PTEN	Likely pathogenic	10	89720650	89720650	AG	A	reviewed by expert panel	ClinGen:CA000595,OMIM:601728.0027
single nucleotide variant	NM_000314.8(PTEN):c.181C>G (p.His61Asp)	PTEN	Likely pathogenic	10	89685286	89685286	C	G	reviewed by expert panel	ClinGen:CA000330,UniProtKB:P60484#VAR_018101,OMIM:601728.0030
single nucleotide variant	NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)	PTEN	Likely pathogenic	10	89717730	89717730	A	G	reviewed by expert panel	ClinGen:CA000564,UniProtKB:P60484#VAR_032637,OMIM:601728.0038
single nucleotide variant	NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)	PTEN	Likely pathogenic	10	89717697	89717697	T	C	reviewed by expert panel	ClinGen:CA000555,UniProtKB:P60484#VAR_032636,OMIM:601728.0039
single nucleotide variant	NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)	PTEN	Likely pathogenic	10	89711882	89711882	C	A	reviewed by expert panel	ClinGen:CA000487,UniProtKB:P60484#VAR_076763,OMIM:601728.0042