List of variants in gene PTEN reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.-765G>A	rs587776674	0.00002
NM_000314.8(PTEN):c.180del (p.Lys60fs)	rs1589640429	0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224	0.00001
NM_000314.8(PTEN):c.586del (p.His196fs)	rs587776670	0.00001
C124S
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs)	rs587776672
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)	rs121909225
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)	rs121909226
NM_000314.8(PTEN):c.253+1G>A	rs587776667
NM_000314.8(PTEN):c.278A>G (p.His93Arg)	rs121909238
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro)	rs121909230
NM_000314.8(PTEN):c.347_351del (p.Asp116fs)	rs587776666
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly)	rs121909237
NM_000314.8(PTEN):c.368A>G (p.His123Arg)	rs121909222
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)	rs121909223
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)	rs121909218
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	rs121909229
NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)	rs397514560
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	rs121909241
NM_000314.8(PTEN):c.405dup (p.Cys136fs)	rs398123323
NM_000314.8(PTEN):c.40dup (p.Arg14fs)	rs587776671
NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs)	rs1057524874
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)	rs121909220
NM_000314.8(PTEN):c.492+2T>G	rs1554898244
NM_000314.8(PTEN):c.500C>A (p.Thr167Asn)	rs397514559
NM_000314.8(PTEN):c.507del (p.Ser170fs)	rs587776673
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg)	rs121909221
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer)	rs397515374
NM_000314.8(PTEN):c.55G>A (p.Asp19Asn)	rs121909233
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)	rs606231170
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	rs121909232
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)	rs121909227
NM_000314.8(PTEN):c.649G>A (p.Val217Ile)	rs121909234
NM_000314.8(PTEN):c.696del (p.Arg233fs)	rs587776669
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)	rs121909235
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser)	rs121909240
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)	rs121909239
NM_000314.8(PTEN):c.761_765del (p.Lys254fs)	rs606231169
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter)	rs121909228
PTEN, 1-BP INS, 519T
PTEN, DEL

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