ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance for Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.(?_68908125)_(68908651_?)del
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile) rs373828321
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429
NM_002180.2(IGHMBP2):c.1632+4C>T rs775832239
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269
NM_002180.2(IGHMBP2):c.1756+4C>T rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.2(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=) rs773046519
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477
NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747
NM_002180.2(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His) rs761191746
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His) rs892885630
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
NM_002180.3(IGHMBP2):c.1756+5G>A
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2785-3C>G
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)

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.