ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP
NM_020631.5(PLEKHG5):c.*1006C>T rs886046489
NM_020631.5(PLEKHG5):c.*1016A>G rs886046488
NM_020631.5(PLEKHG5):c.*1052G>A rs148036862
NM_020631.5(PLEKHG5):c.*108G>A rs11800788
NM_020631.5(PLEKHG5):c.*1289C>G rs886046487
NM_020631.5(PLEKHG5):c.*1347G>T rs886046486
NM_020631.5(PLEKHG5):c.*1354T>C rs886046485
NM_020631.5(PLEKHG5):c.*192G>A rs886046495
NM_020631.5(PLEKHG5):c.*27T>C rs117494970
NM_020631.5(PLEKHG5):c.*363C>G rs186882493
NM_020631.5(PLEKHG5):c.*555T>A rs886046494
NM_020631.5(PLEKHG5):c.*68C>T rs886046496
NM_020631.5(PLEKHG5):c.*750del rs886046493
NM_020631.5(PLEKHG5):c.*765del rs372197062
NM_020631.5(PLEKHG5):c.*775T>G rs886046492
NM_020631.5(PLEKHG5):c.*801G>A rs886046491
NM_020631.5(PLEKHG5):c.*843G>T rs12735472
NM_020631.5(PLEKHG5):c.*905G>A rs886046490
NM_020631.5(PLEKHG5):c.*981dup rs553519753
NM_020631.5(PLEKHG5):c.1038C>G (p.His346Gln) rs1553174547
NM_020631.5(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619
NM_020631.5(PLEKHG5):c.1080+8G>C rs1553174495
NM_020631.5(PLEKHG5):c.1081-3C>T rs772519809
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1112A>C (p.Glu371Ala)
NM_020631.5(PLEKHG5):c.112_114GAG[8] (p.Glu42_Glu43dup) rs760139855
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met)
NM_020631.5(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln)
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe)
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr)
NM_020631.5(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030
NM_020631.5(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.5(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118
NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys)
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys)
NM_020631.5(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
NM_020631.5(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.5(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450
NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.5(PLEKHG5):c.1414T>G (p.Cys472Gly)
NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg) rs534760199
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg)
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.1510G>A (p.Glu504Lys)
NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745
NM_020631.5(PLEKHG5):c.1519G>A (p.Ala507Thr)
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654
NM_020631.5(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965
NM_020631.5(PLEKHG5):c.1572C>T (p.His524=) rs373184968
NM_020631.5(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933
NM_020631.5(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.5(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227
NM_020631.5(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu)
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690
NM_020631.5(PLEKHG5):c.1748G>A (p.Arg583Gln) rs1553173791
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.5(PLEKHG5):c.1826C>A (p.Thr609Lys) rs553151077
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.5(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331
NM_020631.5(PLEKHG5):c.2042A>G (p.Asn681Ser)
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2132A>G (p.Gln711Arg) rs886046500
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala)
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.214C>A (p.Pro72Thr) rs886044171
NM_020631.5(PLEKHG5):c.2156_2157insAGA (p.Glu723dup) rs1553173388
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2201C>T (p.Ser734Phe) rs554772993
NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532
NM_020631.5(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436
NM_020631.5(PLEKHG5):c.2215C>T (p.Arg739Trp)
NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.5(PLEKHG5):c.2244G>C (p.Gln748His)
NM_020631.5(PLEKHG5):c.2249+4C>T rs751575330
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val)
NM_020631.5(PLEKHG5):c.2281A>G (p.Met761Val) rs201647966
NM_020631.5(PLEKHG5):c.2293G>C (p.Glu765Gln)
NM_020631.5(PLEKHG5):c.22C>T (p.Arg8Cys) rs754002297
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772
NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922
NM_020631.5(PLEKHG5):c.2410C>T (p.Pro804Ser) rs886046499
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu)
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=)
NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys)
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His)
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr)
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.5(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606
NM_020631.5(PLEKHG5):c.2524C>T (p.Arg842Trp)
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193
NM_020631.5(PLEKHG5):c.2575C>T (p.Arg859Cys)
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys)
NM_020631.5(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144
NM_020631.5(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161
NM_020631.5(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344
NM_020631.5(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458
NM_020631.5(PLEKHG5):c.2612C>T (p.Pro871Leu) rs886046498
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2664G>T (p.Gly888=)
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala)
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016
NM_020631.5(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556
NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.5(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
NM_020631.5(PLEKHG5):c.2789G>T (p.Arg930Leu)
NM_020631.5(PLEKHG5):c.2802C>T (p.Ser934=) rs886042289
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser)
NM_020631.5(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651
NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser) rs879254222
NM_020631.5(PLEKHG5):c.2864A>G (p.Lys955Arg)
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.286_288AAG[2] (p.Lys98del) rs781153386
NM_020631.5(PLEKHG5):c.2886G>A (p.Ser962=)
NM_020631.5(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416
NM_020631.5(PLEKHG5):c.2932G>C (p.Ala978Pro)
NM_020631.5(PLEKHG5):c.2933C>T (p.Ala978Val)
NM_020631.5(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys)
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met)
NM_020631.5(PLEKHG5):c.3011+6T>C
NM_020631.5(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu)
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser)
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg)
NM_020631.5(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.5(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His)
NM_020631.5(PLEKHG5):c.439+12C>G rs778853521
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys)
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.495G>C (p.Lys165Asn)
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His) rs750080171
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His)
NM_020631.5(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624
NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.5(PLEKHG5):c.586A>G (p.Ile196Val)
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln)
NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735
NM_020631.5(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276
NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
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.665C>A (p.Thr222Lys) rs373678202
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543
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.73C>T (p.Arg25Trp) rs377503203
NM_020631.5(PLEKHG5):c.745C>T (p.Arg249Cys)
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro)
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe)
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro)
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921
NM_020631.5(PLEKHG5):c.795+13A>G rs766753209
NM_020631.5(PLEKHG5):c.796-9T>G rs776663985
NM_020631.5(PLEKHG5):c.806A>T (p.Lys269Met) rs886046501
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr)
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser)
NM_020631.5(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302
NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu)
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103
NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.89G>A (p.Arg30His)
NM_020631.5(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_020631.5(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.931A>C (p.Asn311His) rs146020517
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.995G>A (p.Arg332Gln)
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln)

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