ClinVar Miner

List of variants in gene PPP2R5D reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 231
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006245.4(PPP2R5D):c.1573C>T (p.Pro525Ser) rs767996020 0.00013
NM_006245.4(PPP2R5D):c.703A>G (p.Ile235Val) rs149677026 0.00007
NM_006245.4(PPP2R5D):c.271C>T (p.Arg91Cys) rs750265500 0.00004
NM_006245.4(PPP2R5D):c.1671+4G>T rs767964383 0.00003
NM_006245.4(PPP2R5D):c.188C>T (p.Thr63Met) rs370244516 0.00003
NM_006245.4(PPP2R5D):c.327G>A (p.Ser109=) rs573662782 0.00003
NM_006245.4(PPP2R5D):c.1322G>A (p.Arg441Gln) rs748607156 0.00002
NM_006245.4(PPP2R5D):c.158C>T (p.Pro53Leu) rs1421653493 0.00002
NM_006245.4(PPP2R5D):c.214A>G (p.Ile72Val) rs1193111263 0.00002
NM_006245.4(PPP2R5D):c.101A>C (p.Glu34Ala) rs1241116131 0.00001
NM_006245.4(PPP2R5D):c.1027C>T (p.Leu343=) rs750347123 0.00001
NM_006245.4(PPP2R5D):c.113C>T (p.Pro38Leu) rs200268619 0.00001
NM_006245.4(PPP2R5D):c.124C>A (p.Pro42Thr) rs766986033 0.00001
NM_006245.4(PPP2R5D):c.1303A>G (p.Ile435Val) rs755300874 0.00001
NM_006245.4(PPP2R5D):c.1419T>G (p.Phe473Leu) rs375663526 0.00001
NM_006245.4(PPP2R5D):c.1493G>A (p.Arg498Gln) rs753080336 0.00001
NM_006245.4(PPP2R5D):c.1541G>A (p.Arg514Gln) rs1369550378 0.00001
NM_006245.4(PPP2R5D):c.1600A>G (p.Met534Val) rs374641439 0.00001
NM_006245.4(PPP2R5D):c.1609G>A (p.Glu537Lys) rs1410172198 0.00001
NM_006245.4(PPP2R5D):c.1640_1642dup (p.Leu547_Lys548insMet) rs1298774899 0.00001
NM_006245.4(PPP2R5D):c.172C>T (p.Arg58Cys) rs1394527818 0.00001
NM_006245.4(PPP2R5D):c.173G>A (p.Arg58His) rs769440183 0.00001
NM_006245.4(PPP2R5D):c.227G>C (p.Gly76Ala) rs199635607 0.00001
NM_006245.4(PPP2R5D):c.254G>A (p.Arg85Gln) rs1192439638 0.00001
NM_006245.4(PPP2R5D):c.281T>A (p.Leu94His) rs1207959150 0.00001
NM_006245.4(PPP2R5D):c.313G>T (p.Ala105Ser) rs1277257630 0.00001
NM_006245.4(PPP2R5D):c.470C>T (p.Thr157Ile) rs760788341 0.00001
NM_006245.4(PPP2R5D):c.487G>A (p.Val163Ile) rs140136483 0.00001
NM_006245.4(PPP2R5D):c.634-3T>C rs778402305 0.00001
NM_006245.4(PPP2R5D):c.655C>T (p.Arg219Cys) rs1762146514 0.00001
NM_006245.4(PPP2R5D):c.670C>T (p.Pro224Ser) rs771015575 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006245.4(PPP2R5D):c.790C>T (p.Arg264Cys) rs758921014 0.00001
NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu) rs957822115 0.00001
NM_006245.4(PPP2R5D):c.91G>A (p.Glu31Lys) rs764794443 0.00001
NM_006245.4(PPP2R5D):c.926A>G (p.Asn309Ser) rs1165406603 0.00001
NM_006245.4(PPP2R5D):c.937C>G (p.Leu313Val) rs866594047 0.00001
NM_006245.4(PPP2R5D):c.1006C>G (p.Leu336Val)
NM_006245.4(PPP2R5D):c.100G>A (p.Glu34Lys)
NM_006245.4(PPP2R5D):c.1020C>G (p.His340Gln)
NM_006245.4(PPP2R5D):c.1022C>G (p.Pro341Arg)
NM_006245.4(PPP2R5D):c.1026+19_1026+20delinsGG
NM_006245.4(PPP2R5D):c.1064G>C (p.Ser355Thr)
NM_006245.4(PPP2R5D):c.1078C>A (p.Pro360Thr)
NM_006245.4(PPP2R5D):c.1081G>T (p.Val361Leu)
NM_006245.4(PPP2R5D):c.1084A>G (p.Ile362Val)
NM_006245.4(PPP2R5D):c.1085T>C (p.Ile362Thr)
NM_006245.4(PPP2R5D):c.1090G>A (p.Gly364Arg)
NM_006245.4(PPP2R5D):c.1096C>T (p.Leu366Phe) rs2150281206
NM_006245.4(PPP2R5D):c.112C>T (p.Pro38Ser)
NM_006245.4(PPP2R5D):c.1133T>C (p.Val378Ala)
NM_006245.4(PPP2R5D):c.114_125dup (p.38PQ[7]) rs1554131617
NM_006245.4(PPP2R5D):c.114_131dup (p.Gln47_Ala48insProGlnProGlnProGln)
NM_006245.4(PPP2R5D):c.1159A>G (p.Ile387Val)
NM_006245.4(PPP2R5D):c.1168G>A (p.Val390Ile)
NM_006245.4(PPP2R5D):c.1175A>C (p.Glu392Ala)
NM_006245.4(PPP2R5D):c.117G>T (p.Gln39His) rs761463281
NM_006245.4(PPP2R5D):c.117GCCCCA[1] (p.38PQ[2])
NM_006245.4(PPP2R5D):c.117GCCCCA[2] (p.38PQ[3])
NM_006245.4(PPP2R5D):c.117GCCCCA[3] (p.38PQ[4])
NM_006245.4(PPP2R5D):c.117GCCCCA[5] (p.38PQ[6])
NM_006245.4(PPP2R5D):c.117GCCCCA[6] (p.38PQ[7])
NM_006245.4(PPP2R5D):c.1183G>C (p.Glu395Gln)
NM_006245.4(PPP2R5D):c.1185G>C (p.Glu395Asp)
NM_006245.4(PPP2R5D):c.118C>A (p.Pro40Thr)
NM_006245.4(PPP2R5D):c.1190G>C (p.Ser397Thr)
NM_006245.4(PPP2R5D):c.1191C>G (p.Ser397Arg)
NM_006245.4(PPP2R5D):c.1213C>T (p.Arg405Cys) rs2150281277
NM_006245.4(PPP2R5D):c.1214G>A (p.Arg405His)
NM_006245.4(PPP2R5D):c.1225A>G (p.Lys409Glu)
NM_006245.4(PPP2R5D):c.1229G>A (p.Cys410Tyr)
NM_006245.4(PPP2R5D):c.1235C>G (p.Ser412Cys)
NM_006245.4(PPP2R5D):c.123G>C (p.Gln41His)
NM_006245.4(PPP2R5D):c.1251+5G>A
NM_006245.4(PPP2R5D):c.1259A>G (p.Glu420Gly)
NM_006245.4(PPP2R5D):c.1265C>G (p.Ala422Gly)
NM_006245.4(PPP2R5D):c.1271A>G (p.Tyr424Cys)
NM_006245.4(PPP2R5D):c.1283A>G (p.Asn428Ser)
NM_006245.4(PPP2R5D):c.1308T>G (p.Ser436Arg)
NM_006245.4(PPP2R5D):c.1315G>A (p.Ala439Thr)
NM_006245.4(PPP2R5D):c.1321C>T (p.Arg441Ter)
NM_006245.4(PPP2R5D):c.1325T>C (p.Val442Ala)
NM_006245.4(PPP2R5D):c.1327C>T (p.Leu443Phe)
NM_006245.4(PPP2R5D):c.1355G>A (p.Arg452Lys)
NM_006245.4(PPP2R5D):c.1367G>T (p.Ser456Ile) rs2150281529
NM_006245.4(PPP2R5D):c.1369C>T (p.His457Tyr) rs2150281533
NM_006245.4(PPP2R5D):c.13C>T (p.Leu5=)
NM_006245.4(PPP2R5D):c.1428G>C (p.Met476Ile)
NM_006245.4(PPP2R5D):c.1428G>T (p.Met476Ile)
NM_006245.4(PPP2R5D):c.1442T>G (p.Phe481Cys)
NM_006245.4(PPP2R5D):c.1445A>G (p.Asp482Gly)
NM_006245.4(PPP2R5D):c.1451G>A (p.Cys484Tyr)
NM_006245.4(PPP2R5D):c.146A>G (p.Gln49Arg) rs370441625
NM_006245.4(PPP2R5D):c.1471G>C (p.Glu491Gln) rs2150283103
NM_006245.4(PPP2R5D):c.1481+2dup
NM_006245.4(PPP2R5D):c.1481+3G>C
NM_006245.4(PPP2R5D):c.1486C>T (p.Arg496Trp) rs772904155
NM_006245.4(PPP2R5D):c.1492C>T (p.Arg498Ter)
NM_006245.4(PPP2R5D):c.1496T>C (p.Met499Thr) rs1762307869
NM_006245.4(PPP2R5D):c.1497G>A (p.Met499Ile)
NM_006245.4(PPP2R5D):c.1498A>G (p.Lys500Glu)
NM_006245.4(PPP2R5D):c.149C>T (p.Ser50Phe) rs2150277755
NM_006245.4(PPP2R5D):c.1500G>C (p.Lys500Asn) rs1762308153
NM_006245.4(PPP2R5D):c.1505G>A (p.Arg502Lys)
NM_006245.4(PPP2R5D):c.1508A>T (p.Glu503Val)
NM_006245.4(PPP2R5D):c.1518G>C (p.Trp506Cys)
NM_006245.4(PPP2R5D):c.1528G>A (p.Glu510Lys)
NM_006245.4(PPP2R5D):c.153G>C (p.Gln51His)
NM_006245.4(PPP2R5D):c.1540C>T (p.Arg514Trp) rs2150283318
NM_006245.4(PPP2R5D):c.1549C>T (p.Pro517Ser)
NM_006245.4(PPP2R5D):c.1549_1550insAAA (p.Pro517delinsGlnThr)
NM_006245.4(PPP2R5D):c.1563G>T (p.Met521Ile) rs2150283609
NM_006245.4(PPP2R5D):c.1567C>T (p.Arg523Ter)
NM_006245.4(PPP2R5D):c.1568G>A (p.Arg523Gln) rs1762321025
NM_006245.4(PPP2R5D):c.1568G>C (p.Arg523Pro)
NM_006245.4(PPP2R5D):c.1570G>A (p.Ala524Thr) rs2150283624
NM_006245.4(PPP2R5D):c.1573C>G (p.Pro525Ala) rs767996020
NM_006245.4(PPP2R5D):c.1583T>C (p.Leu528Pro)
NM_006245.4(PPP2R5D):c.1588C>G (p.Pro530Ala)
NM_006245.4(PPP2R5D):c.1588C>T (p.Pro530Ser) rs140491750
NM_006245.4(PPP2R5D):c.1589_1590del (p.Pro530fs)
NM_006245.4(PPP2R5D):c.1598C>T (p.Ser533Leu)
NM_006245.4(PPP2R5D):c.1615C>T (p.Pro539Ser) rs1762323622
NM_006245.4(PPP2R5D):c.162_164del (p.Ser55del)
NM_006245.4(PPP2R5D):c.1634A>T (p.Gln545Leu)
NM_006245.4(PPP2R5D):c.1642A>C (p.Lys548Gln)
NM_006245.4(PPP2R5D):c.1649C>T (p.Thr550Ile)
NM_006245.4(PPP2R5D):c.164C>T (p.Ser55Phe)
NM_006245.4(PPP2R5D):c.1669del (p.Gln557fs)
NM_006245.4(PPP2R5D):c.166A>C (p.Asn56His)
NM_006245.4(PPP2R5D):c.1671+3G>T
NM_006245.4(PPP2R5D):c.175C>T (p.Pro59Ser)
NM_006245.4(PPP2R5D):c.184A>G (p.Ser62Gly) rs1038667663
NM_006245.4(PPP2R5D):c.197C>A (p.Pro66His)
NM_006245.4(PPP2R5D):c.198dup (p.Thr67fs)
NM_006245.4(PPP2R5D):c.19A>C (p.Lys7Gln)
NM_006245.4(PPP2R5D):c.200C>T (p.Thr67Met)
NM_006245.4(PPP2R5D):c.218A>G (p.Lys73Arg)
NM_006245.4(PPP2R5D):c.22_24del (p.Glu8del)
NM_006245.4(PPP2R5D):c.244AAG[1] (p.Lys83del) rs1249640321
NM_006245.4(PPP2R5D):c.257G>A (p.Arg86Gln) rs1762095265
NM_006245.4(PPP2R5D):c.266C>G (p.Ser89Cys)
NM_006245.4(PPP2R5D):c.266C>T (p.Ser89Phe)
NM_006245.4(PPP2R5D):c.26A>C (p.Lys9Thr)
NM_006245.4(PPP2R5D):c.272G>C (p.Arg91Pro)
NM_006245.4(PPP2R5D):c.278A>T (p.Asn93Ile)
NM_006245.4(PPP2R5D):c.28-2A>C
NM_006245.4(PPP2R5D):c.288G>C (p.Lys96Asn)
NM_006245.4(PPP2R5D):c.290A>G (p.Asn97Ser)
NM_006245.4(PPP2R5D):c.292C>G (p.Arg98Gly)
NM_006245.4(PPP2R5D):c.292C>T (p.Arg98Trp)
NM_006245.4(PPP2R5D):c.293G>A (p.Arg98Gln)
NM_006245.4(PPP2R5D):c.31C>G (p.Pro11Ala)
NM_006245.4(PPP2R5D):c.322+20_322+21del rs1762100107
NM_006245.4(PPP2R5D):c.322+4C>A rs1031636348
NM_006245.4(PPP2R5D):c.326C>T (p.Ser109Leu)
NM_006245.4(PPP2R5D):c.341G>A (p.Arg114Gln) rs1422741944
NM_006245.4(PPP2R5D):c.350T>A (p.Leu117Gln) rs2150278435
NM_006245.4(PPP2R5D):c.37A>G (p.Lys13Glu)
NM_006245.4(PPP2R5D):c.382C>T (p.Leu128Phe)
NM_006245.4(PPP2R5D):c.38A>G (p.Lys13Arg)
NM_006245.4(PPP2R5D):c.395T>C (p.Val132Ala)
NM_006245.4(PPP2R5D):c.400G>C (p.Asp134His)
NM_006245.4(PPP2R5D):c.400G>T (p.Asp134Tyr)
NM_006245.4(PPP2R5D):c.406C>T (p.Leu136Phe) rs2150278463
NM_006245.4(PPP2R5D):c.409A>G (p.Ser137Gly)
NM_006245.4(PPP2R5D):c.40G>A (p.Val14Ile)
NM_006245.4(PPP2R5D):c.415C>T (p.Leu139Phe)
NM_006245.4(PPP2R5D):c.416T>C (p.Leu139Pro)
NM_006245.4(PPP2R5D):c.429G>A (p.Glu143=)
NM_006245.4(PPP2R5D):c.437G>A (p.Arg146Gln)
NM_006245.4(PPP2R5D):c.442G>A (p.Gly148Arg) rs2150278489
NM_006245.4(PPP2R5D):c.462G>T (p.Glu154Asp) rs762227983
NM_006245.4(PPP2R5D):c.472C>G (p.His158Asp)
NM_006245.4(PPP2R5D):c.472C>T (p.His158Tyr)
NM_006245.4(PPP2R5D):c.478C>T (p.Arg160Cys)
NM_006245.4(PPP2R5D):c.479G>A (p.Arg160His)
NM_006245.4(PPP2R5D):c.487G>C (p.Val163Leu)
NM_006245.4(PPP2R5D):c.491C>G (p.Thr164Ser)
NM_006245.4(PPP2R5D):c.522+4G>A
NM_006245.4(PPP2R5D):c.540C>G (p.Phe180Leu)
NM_006245.4(PPP2R5D):c.560C>T (p.Ser187Leu) rs2150278760
NM_006245.4(PPP2R5D):c.574G>A (p.Ala192Thr)
NM_006245.4(PPP2R5D):c.584A>C (p.Asp195Ala)
NM_006245.4(PPP2R5D):c.595G>T (p.Asp199Tyr)
NM_006245.4(PPP2R5D):c.598G>C (p.Glu200Gln)
NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser) rs2150278804
NM_006245.4(PPP2R5D):c.629T>C (p.Leu210Pro)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006245.4(PPP2R5D):c.633+4C>T
NM_006245.4(PPP2R5D):c.648C>G (p.Phe216Leu)
NM_006245.4(PPP2R5D):c.648CTT[1] (p.Phe217del)
NM_006245.4(PPP2R5D):c.649T>G (p.Phe217Val)
NM_006245.4(PPP2R5D):c.65G>A (p.Ser22Asn) rs373458153
NM_006245.4(PPP2R5D):c.682C>T (p.Pro228Ser)
NM_006245.4(PPP2R5D):c.688A>C (p.Ile230Leu)
NM_006245.4(PPP2R5D):c.689T>C (p.Ile230Thr) rs1762147972
NM_006245.4(PPP2R5D):c.691G>A (p.Ala231Thr)
NM_006245.4(PPP2R5D):c.706G>A (p.Asp236Asn) rs1252182248
NM_006245.4(PPP2R5D):c.725C>A (p.Ala242Asp)
NM_006245.4(PPP2R5D):c.726+3G>A
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys) rs1762178779
NM_006245.4(PPP2R5D):c.74G>T (p.Gly25Val)
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006245.4(PPP2R5D):c.753T>A (p.Asp251Glu) rs2150279778
NM_006245.4(PPP2R5D):c.754C>G (p.Pro252Ala)
NM_006245.4(PPP2R5D):c.764G>A (p.Arg255Gln) rs1762179656
NM_006245.4(PPP2R5D):c.771C>G (p.Phe257Leu) rs770485035
NM_006245.4(PPP2R5D):c.776A>G (p.Lys259Arg)
NM_006245.4(PPP2R5D):c.788A>G (p.His263Arg) rs1762180593
NM_006245.4(PPP2R5D):c.800G>A (p.Gly267Asp) rs2150279831
NM_006245.4(PPP2R5D):c.805T>C (p.Phe269Leu) rs2150279836
NM_006245.4(PPP2R5D):c.818G>A (p.Arg273Gln)
NM_006245.4(PPP2R5D):c.833G>T (p.Arg278Met)
NM_006245.4(PPP2R5D):c.837G>T (p.Gln279His)
NM_006245.4(PPP2R5D):c.853T>C (p.Tyr285His)
NM_006245.4(PPP2R5D):c.857+7C>T rs768194468
NM_006245.4(PPP2R5D):c.858-1G>C
NM_006245.4(PPP2R5D):c.858G>T (p.Arg286Ser)
NM_006245.4(PPP2R5D):c.872C>T (p.Thr291Met)
NM_006245.4(PPP2R5D):c.892G>A (p.Ala298Thr) rs2150280123
NM_006245.4(PPP2R5D):c.917+16G>A
NM_006245.4(PPP2R5D):c.917+6A>G
NM_006245.4(PPP2R5D):c.919A>G (p.Ile307Val)
NM_006245.4(PPP2R5D):c.943C>G (p.Leu315Val)
NM_006245.4(PPP2R5D):c.963G>A (p.Met321Ile)
NM_006245.4(PPP2R5D):c.974G>A (p.Arg325His) rs2150280325
NM_006245.4(PPP2R5D):c.976G>A (p.Val326Ile)
NM_006245.4(PPP2R5D):c.998T>G (p.Val333Gly)

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.