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.696del (p.Arg233fs)	PTEN	Likely pathogenic	10	89717671	89717671	CA	C	reviewed by expert panel	ClinGen:CA000548,OMIM:601728.0010
Deletion	NM_000314.8(PTEN):c.586del (p.His196fs)	PTEN	Pathogenic	10	89711968	89711968	TC	T	reviewed by expert panel	ClinGen:CA000526,OMIM:601728.0013
Indel	NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer)	PTEN	Pathogenic	10	89711916	89711917	TA	AT	reviewed by expert panel	ClinGen:CA000509,OMIM:601728.0014
single nucleotide variant	NM_000314.8(PTEN):c.104T>G (p.Met35Arg)	PTEN	Pathogenic	10	89653806	89653806	T	G	reviewed by expert panel	ClinGen:CA000268,UniProtKB:P60484#VAR_008036,OMIM:601728.0011
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
single nucleotide variant	NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)	PTEN	Pathogenic	10	89717615	89717615	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000538,OMIM:601728.0015
single nucleotide variant	NM_000314.8(PTEN):c.766G>T (p.Glu256Ter)	PTEN	Pathogenic	10	89717741	89717741	G	T	reviewed by expert panel	ClinGen:CA000569,OMIM:601728.0016
single nucleotide variant	NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	PTEN	Pathogenic	10	89692905	89692905	G	A	reviewed by expert panel	ClinGen:CA000437,UniProtKB:P60484#VAR_007468,OMIM:601728.0017
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