ClinVar Miner

List of variants in gene IQSEC2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_53263401)_(53280376_?)del
NC_000023.10:g.(?_53270946)_(53271111_?)del
NC_000023.10:g.(?_53279441)_(53280376_?)del
NC_000023.11:g.53254331_53296102dup
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs) rs2074443766
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) rs267607188
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs) rs1602291861
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter) rs1602291658
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter) rs2147121012
NM_001111125.3(IQSEC2):c.1399C>T (p.Gln467Ter) rs2074437028
NM_001111125.3(IQSEC2):c.1405_1406del (p.Lys469fs) rs2074385548
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter) rs2147103761
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs) rs2074383291
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs) rs2074383129
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs) rs1556863492
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter) rs1569302816
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) rs2074381038
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1613dup (p.Pro539fs) rs2147102426
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs) rs1556863435
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter) rs2074379209
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs) rs1556863398
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs) rs2074374579
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs) rs2074373583
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs) rs2074372905
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs) rs1556863165
NM_001111125.3(IQSEC2):c.1925dup (p.Ile643fs) rs1556863165
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs) rs1602283534
NM_001111125.3(IQSEC2):c.2021del (p.Gly674fs) rs1556863090
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs) rs2074369642
NM_001111125.3(IQSEC2):c.2052C>A (p.Cys684Ter)
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer) rs797044889
NM_001111125.3(IQSEC2):c.2078del (p.Gly693fs)
NM_001111125.3(IQSEC2):c.2098G>T (p.Glu700Ter) rs1556863043
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
NM_001111125.3(IQSEC2):c.2203C>T (p.Gln735Ter) rs2147096963
NM_001111125.3(IQSEC2):c.2225G>A (p.Trp742Ter) rs2147096776
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) rs267607189
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001111125.3(IQSEC2):c.2292del (p.Phe764fs) rs2147096232
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter) rs2147089995
NM_001111125.3(IQSEC2):c.2329G>T (p.Glu777Ter) rs782517076
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs) rs2147089642
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) rs875989799
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter) rs1569300687
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) rs267607187
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr) rs1060499660
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2582+2T>C rs1569300277
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr) rs797044932
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs) rs1602277592
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.2749+1G>A rs1556862167
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.2803C>T (p.Arg935Cys)
NM_001111125.3(IQSEC2):c.2819_2823dup (p.Arg942fs) rs2074254630
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs) rs2147059978
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.296del (p.His99fs) rs1064793152
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2983del (p.Arg995fs) rs1602268620
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.3016-1G>T
NM_001111125.3(IQSEC2):c.3016-1dup rs1556860401
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs) rs2074181394
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs) rs1602264294
NM_001111125.3(IQSEC2):c.3097C>T (p.Gln1033Ter) rs878853144
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter) rs2147032671
NM_001111125.3(IQSEC2):c.3116-3_3116-2del rs797045140
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001111125.3(IQSEC2):c.321_322del (p.Phe107fs)
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs) rs2147026571
NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter) rs1064796614
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp)
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter) rs1556859652
NM_001111125.3(IQSEC2):c.3452-1G>A rs2147010401
NM_001111125.3(IQSEC2):c.3499G>T (p.Glu1167Ter) rs2147009961
NM_001111125.3(IQSEC2):c.3502-2del rs1131691650
NM_001111125.3(IQSEC2):c.3515dup (p.Ser1172fs) rs2147006430
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs) rs2147003883
NM_001111125.3(IQSEC2):c.3613del (p.Leu1205fs)
NM_001111125.3(IQSEC2):c.3679C>T (p.Gln1227Ter) rs1556859257
NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs) rs1602257730
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter) rs1569291654
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs) rs1569291627
NM_001111125.3(IQSEC2):c.3973dup (p.His1325fs)
NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs) rs1064793569
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs) rs2147001369
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
NM_001111125.3(IQSEC2):c.4264_4265del (p.Gln1422fs) rs2147000956
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs) rs2074091750
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs) rs2147000428
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs) rs2146999877
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs) rs2146999914
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs) rs1556858912
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs) rs1602383045
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) rs1556880284
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs) rs2146548468
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs) rs2146547822
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter) rs1602293823
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs) rs1556865104
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001111125.3(IQSEC2):c.863del (p.Val288fs) rs1556865060
NM_001111125.3(IQSEC2):c.880C>T (p.Gln294Ter)
NM_001111125.3(IQSEC2):c.886del (p.Ala296fs) rs1602293563
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs) rs1602293475
NM_001243197.1(IQSEC2):c.123-2226_*20117dup
NM_001243197.2(IQSEC2):c.12dup (p.Gly5fs) rs1252463400

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.