ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 42
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.1038C>G (p.His346Gln) rs1553174547
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.5(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450
NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg) rs534760199
NM_020631.5(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1826C>A (p.Thr609Lys) rs553151077
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2281A>G (p.Met761Val) rs201647966
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144
NM_020631.5(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser) rs879254222
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His) rs750080171
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633
NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320
NM_020631.5(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.5(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621

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