ClinVar Miner

List of variants in gene PNKP reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 216
Download table as spreadsheet
HGVS dbSNP
NM_007254.4(PNKP):c.*15C>T rs1050332
NM_007254.4(PNKP):c.*21A>C rs201872477
NM_007254.4(PNKP):c.*23A>C rs886054582
NM_007254.4(PNKP):c.-105G>A rs886054585
NM_007254.4(PNKP):c.-14+1G>T rs796052854
NM_007254.4(PNKP):c.-50G>C rs3739166
NM_007254.4(PNKP):c.-74G>A rs886054584
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser)
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val)
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-5C>T rs374745816
NM_007254.4(PNKP):c.1042C>T (p.Arg348Cys)
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg)
NM_007254.4(PNKP):c.1052C>G (p.Pro351Arg) rs797045891
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu)
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg)
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys)
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu)
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
NM_007254.4(PNKP):c.109C>G (p.Pro37Ala) rs536541839
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303
NM_007254.4(PNKP):c.1120C>T (p.Pro374Ser)
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1125G>T (p.Gly375=)
NM_007254.4(PNKP):c.1126+9C>T rs3739202
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855
NM_007254.4(PNKP):c.1156C>T (p.Leu386Phe) rs1568659595
NM_007254.4(PNKP):c.1165G>A (p.Ala389Thr)
NM_007254.4(PNKP):c.1170A>G (p.Gly390=) rs1064796440
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-3C>T rs1568659329
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312
NM_007254.4(PNKP):c.1211G>A (p.Arg404His)
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro)
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1231_1234del (p.Thr411fs) rs886054583
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151
NM_007254.4(PNKP):c.125C>G (p.Thr42Arg)
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup)
NM_007254.4(PNKP):c.1274A>G (p.Asn425Ser) rs541840060
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1288_1298+1del rs1555810849
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1292G>A (p.Arg431His)
NM_007254.4(PNKP):c.1298+6G>A rs578207030
NM_007254.4(PNKP):c.1298+7T>G rs794727126
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1321G>A (p.Ala441Thr) rs1351594110
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137
NM_007254.4(PNKP):c.1325G>C (p.Gly442Ala) rs1360064159
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val)
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp)
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1387-11G>A rs200785744
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
NM_007254.4(PNKP):c.1390C>A (p.Arg464=) rs138249970
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1412A>C (p.His471Pro)
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666
NM_007254.4(PNKP):c.1418C>T (p.Pro473Leu) rs200014111
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu)
NM_007254.4(PNKP):c.1429A>G (p.Met477Val) rs796052856
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr)
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
NM_007254.4(PNKP):c.1449G>C (p.Arg483Ser) rs747689609
NM_007254.4(PNKP):c.1468A>G (p.Thr490Ala) rs727504100
NM_007254.4(PNKP):c.1481G>T (p.Gly494Val) rs1085307661
NM_007254.4(PNKP):c.1482C>A (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1483T>C (p.Phe495Leu) rs1165689250
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.4(PNKP):c.151+18T>G rs55756709
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp)
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958
NM_007254.4(PNKP):c.1524G>C (p.Glu508Asp) rs752776104
NM_007254.4(PNKP):c.1545C>G (p.Tyr515Ter) rs760131892
NM_007254.4(PNKP):c.1556C>G (p.Ser519Cys) rs745801055
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys)
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128
NM_007254.4(PNKP):c.178C>G (p.Arg60Gly) rs761948305
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp)
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.4(PNKP):c.199-8_199-5del
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.203G>C (p.Gly68Ala) rs796052864
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile)
NM_007254.4(PNKP):c.235T>G (p.Leu79Val) rs796052849
NM_007254.4(PNKP):c.242C>T (p.Pro81Leu) rs753940585
NM_007254.4(PNKP):c.248T>C (p.Leu83Ser) rs756169949
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile)
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.313C>T (p.Arg105Cys)
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp)
NM_007254.4(PNKP):c.457T>C (p.Leu153=) rs587784368
NM_007254.4(PNKP):c.47C>A (p.Pro16His) rs796052858
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138
NM_007254.4(PNKP):c.499-5A>G rs886042466
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.4(PNKP):c.513T>G (p.Asp171Glu)
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys)
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.579-4G>A rs371834726
NM_007254.4(PNKP):c.579-5C>T rs767753048
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.580A>C (p.Ile194Leu)
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr) rs1555811465
NM_007254.4(PNKP):c.602G>A (p.Arg201His) rs150253619
NM_007254.4(PNKP):c.611G>A (p.Arg204Gln)
NM_007254.4(PNKP):c.613G>A (p.Glu205Lys) rs1555811461
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala)
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys)
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839
NM_007254.4(PNKP):c.666C>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.668G>T (p.Gly223Val) rs796052851
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841
NM_007254.4(PNKP):c.716T>C (p.Val239Ala) rs1568661537
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148
NM_007254.4(PNKP):c.741C>T (p.Phe247=) rs767980504
NM_007254.4(PNKP):c.744+3dup rs1555811411
NM_007254.4(PNKP):c.744+8T>C rs587784370
NM_007254.4(PNKP):c.754G>T (p.Ala252Ser) rs1555811378
NM_007254.4(PNKP):c.758C>T (p.Thr253Met) rs538161505
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249
NM_007254.4(PNKP):c.767G>A (p.Gly256Asp) rs796052852
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys)
NM_007254.4(PNKP):c.817-5C>G rs398124250
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del)
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.824A>G (p.Asp275Gly) rs1470797052
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.83G>A (p.Gly28Glu) rs771064093
NM_007254.4(PNKP):c.845G>A (p.Gly282Glu) rs398124251
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe) rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del) rs886042225
NM_007254.4(PNKP):c.921C>A (p.Ser307=) rs369985921
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_007254.4(PNKP):c.937-11_937-10del rs769234730
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007254.4(PNKP):c.959C>A (p.Pro320His) rs1428228072
NM_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574
NM_007254.4(PNKP):c.995C>T (p.Pro332Leu) rs978778913

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.