List of variants in gene PTEN reported as likely pathogenic by GeneDx

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: 45

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg)	rs786202517
NM_000314.8(PTEN):c.10A>G (p.Ile4Val)
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser)	rs587780004
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs)	rs1064794878
NM_000314.8(PTEN):c.1212A>G (p.Ter404Trp)	rs876660879
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)	rs1057518425
NM_000314.8(PTEN):c.165-1G>A	rs786203847
NM_000314.8(PTEN):c.196A>G (p.Lys66Glu)
NM_000314.8(PTEN):c.209+2dup	rs1064794925
NM_000314.8(PTEN):c.209+4A>G	rs2132232446
NM_000314.8(PTEN):c.209+5G>T	rs1114167650
NM_000314.8(PTEN):c.242T>G (p.Phe81Cys)	rs876661177
NM_000314.8(PTEN):c.283C>T (p.Pro95Ser)	rs1114167630
NM_000314.8(PTEN):c.298C>T (p.Leu100Phe)	rs1589646100
NM_000314.8(PTEN):c.308_309del (p.Pro103fs)	rs1554898088
NM_000314.8(PTEN):c.355G>C (p.Val119Leu)	rs139767111
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)	rs876660535
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)	rs587781255
NM_000314.8(PTEN):c.401T>G (p.Met134Arg)	rs1085308046
NM_000314.8(PTEN):c.404T>C (p.Ile135Thr)	rs370795352
NM_000314.8(PTEN):c.422A>G (p.His141Arg)	rs863224666
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys)	rs398123324
NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp)	rs1064796078
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)	rs786202688
NM_000314.8(PTEN):c.479C>T (p.Thr160Ile)	rs1554898225
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)	rs869312777
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter)	rs1554898235
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)	rs864622341
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del)	rs1064793244
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)	rs786204867
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala)	rs786204868
NM_000314.8(PTEN):c.64G>C (p.Asp22His)	rs876660420
NM_000314.8(PTEN):c.673del (p.Tyr225fs)	rs1589663253
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs)	rs1131691831
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu)	rs1554825207
NM_000314.8(PTEN):c.750_751del (p.Cys250fs)	rs780264945
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)	rs1554825226
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr)	rs1114167633
NM_000314.8(PTEN):c.796A>G (p.Lys266Glu)
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)	rs1554825266
NM_000314.8(PTEN):c.826A>G (p.Asn276Asp)	rs1589665622
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly)	rs1564568473
NM_000314.8(PTEN):c.944_945del (p.Tyr315fs)	rs1064796128
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr)	rs1554893771

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