ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP
GRCh38/hg38 17q21.31(chr17:46130641-46273757)
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NM_015443.4(KANSL1):c.*1103dup rs142756815
NM_015443.4(KANSL1):c.*1234_*1235dup rs140510364
NM_015443.4(KANSL1):c.*1354dup rs67641084
NM_015443.4(KANSL1):c.*1520dup rs67801660
NM_015443.4(KANSL1):c.*1551del rs767830420
NM_015443.4(KANSL1):c.*28ACTA[1] rs767896466
NM_015443.4(KANSL1):c.*954C>G rs150500194
NM_015443.4(KANSL1):c.-23_-2del
NM_015443.4(KANSL1):c.-90+19C>G rs1057516026
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_015443.4(KANSL1):c.1002C>G (p.Asn334Lys)
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser) rs200997135
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser) rs1466777621
NM_015443.4(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly) rs1309097254
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile) rs775962610
NM_015443.4(KANSL1):c.1104C>G (p.Ser368Arg) rs746438012
NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr) rs747621748
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly) rs796052602
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497
NM_015443.4(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_015443.4(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly) rs751709708
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr) rs376632173
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_015443.4(KANSL1):c.1250A>G (p.Glu417Gly) rs2046249754
NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser) rs1597870423
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys) rs757224600
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu) rs1166960320
NM_015443.4(KANSL1):c.1289+3G>A rs2046246397
NM_015443.4(KANSL1):c.1289+3_1289+5del rs1597870189
NM_015443.4(KANSL1):c.1289+8G>C
NM_015443.4(KANSL1):c.1294C>T (p.Arg432Cys) rs755296202
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His) rs754111757
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp)
NM_015443.4(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His) rs760727599
NM_015443.4(KANSL1):c.1350C>G (p.Asn450Lys)
NM_015443.4(KANSL1):c.1402G>C (p.Asp468His) rs745576981
NM_015443.4(KANSL1):c.1410C>A (p.Tyr470Ter) rs776206707
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His) rs770719196
NM_015443.4(KANSL1):c.1469A>C (p.His490Pro)
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn) rs375555532
NM_015443.4(KANSL1):c.1533+3A>G rs1944843364
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu) rs2078430687
NM_015443.4(KANSL1):c.1563C>G (p.Asn521Lys) rs886043787
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
NM_015443.4(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg)
NM_015443.4(KANSL1):c.158C>G (p.Ala53Gly) rs796052599
NM_015443.4(KANSL1):c.1600C>G (p.Leu534Val) rs1385195592
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp) rs1555746270
NM_015443.4(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_015443.4(KANSL1):c.1653-3T>G
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr) rs756625356
NM_015443.4(KANSL1):c.1676A>G (p.His559Arg) rs886053069
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109
NM_015443.4(KANSL1):c.1774C>G (p.Arg592Gly) rs774841964
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg) rs749811911
NM_015443.4(KANSL1):c.181C>A (p.Leu61Ile) rs1567764831
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_015443.4(KANSL1):c.1848+3C>T rs763185589
NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln) rs1424923651
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala) rs567178302
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser) rs567178302
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val) rs767702173
NM_015443.4(KANSL1):c.1870C>T (p.Arg624Cys) rs368180304
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser) rs752154509
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln) rs752415137
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu) rs796052585
NM_015443.4(KANSL1):c.1993G>A (p.Val665Ile) rs1180495776
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) rs768152581
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala) rs2046311790
NM_015443.4(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser) rs1227525369
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_015443.4(KANSL1):c.2109A>T (p.Leu703Phe) rs34101027
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly) rs2077259076
NM_015443.4(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val) rs1568374912
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met) rs773184800
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu) rs761904173
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met) rs749337566
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met)
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His) rs144377285
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser)
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu) rs904766735
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr) rs2077233312
NM_015443.4(KANSL1):c.2392+3A>T rs1568374384
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267
NM_015443.4(KANSL1):c.2417G>A (p.Ser806Asn) rs539976549
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr)
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg) rs2077222371
NM_015443.4(KANSL1):c.2446C>T (p.His816Tyr) rs1385276351
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp) rs758071565
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter) rs779137465
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del) rs1568373517
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_015443.4(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) rs776349500
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn) rs796052597
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys)
NM_015443.4(KANSL1):c.2666+3A>G
NM_015443.4(KANSL1):c.2667-4dup rs2077067052
NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile) rs1057523139
NM_015443.4(KANSL1):c.2724+5T>G rs1327945886
NM_015443.4(KANSL1):c.2725-7A>G rs186818985
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr) rs756685224
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)
NM_015443.4(KANSL1):c.2762A>G (p.His921Arg) rs1555731275
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu) rs752219095
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln) rs1400431996
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu) rs774259324
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser) rs1315792143
NM_015443.4(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469
NM_015443.4(KANSL1):c.2897C>T (p.Thr966Ile) rs763252158
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs)
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser) rs1286813277
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) rs1057522661
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile) rs760506954
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_015443.4(KANSL1):c.3050A>C (p.Asp1017Ala) rs1568365844
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_015443.4(KANSL1):c.3091-3C>T rs374360315
NM_015443.4(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074
NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val) rs1194713411
NM_015443.4(KANSL1):c.3139C>G (p.Gln1047Glu)
NM_015443.4(KANSL1):c.3143C>T (p.Ala1048Val) rs200719065
NM_015443.4(KANSL1):c.3154G>A (p.Asp1052Asn) rs1037675968
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala) rs371450753
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly) rs2077009798
NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys) rs2077009434
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys) rs1259929847
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln) rs763541067
NM_015443.4(KANSL1):c.3245C>T (p.Ser1082Leu) rs749241540
NM_015443.4(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
NM_015443.4(KANSL1):c.3275A>G (p.His1092Arg) rs963795454
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu) rs796052598
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs) rs761370843
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys) rs781582912
NM_015443.4(KANSL1):c.388G>A (p.Val130Ile) rs766000368
NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_015443.4(KANSL1):c.406G>C (p.Glu136Gln) rs2046302554
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr) rs140089320
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val) rs2046319479
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val) rs775582928
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer) rs2046298627
NM_015443.4(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_015443.4(KANSL1):c.509A>G (p.His170Arg) rs1038293188
NM_015443.4(KANSL1):c.515A>T (p.Asn172Ile) rs942182430
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile) rs2046297678
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe) rs750012482
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs) rs1567763809
NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu) rs2046295807
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln) rs771481251
NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871
NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp) rs2046318820
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp) rs2046293564
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) rs767960522
NM_015443.4(KANSL1):c.577A>G (p.Met193Val)
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr)
NM_015443.4(KANSL1):c.584G>A (p.Gly195Glu) rs757048501
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val) rs759522694
NM_015443.4(KANSL1):c.613A>T (p.Met205Leu) rs1236541973
NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser) rs761141661
NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp) rs372601814
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_015443.4(KANSL1):c.625A>G (p.Thr209Ala) rs1301400639
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala) rs745305837
NM_015443.4(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val) rs2046288156
NM_015443.4(KANSL1):c.652G>C (p.Glu218Gln) rs1268624539
NM_015443.4(KANSL1):c.658A>C (p.Thr220Pro) rs2046287355
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser) rs2046287355
NM_015443.4(KANSL1):c.665T>C (p.Leu222Ser) rs1297046144
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser) rs1428454868
NM_015443.4(KANSL1):c.680G>T (p.Ser227Ile) rs150345690
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr) rs770400570
NM_015443.4(KANSL1):c.709A>G (p.Met237Val) rs778942078
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly) rs141969887
NM_015443.4(KANSL1):c.740G>A (p.Arg247Lys) rs1265436458
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn) rs769994474
NM_015443.4(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_015443.4(KANSL1):c.798A>G (p.Lys266=)
NM_015443.4(KANSL1):c.802T>C (p.Ser268Pro) rs767021119
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_015443.4(KANSL1):c.812C>T (p.Ser271Phe) rs1597872380
NM_015443.4(KANSL1):c.823T>C (p.Phe275Leu) rs1567762510
NM_015443.4(KANSL1):c.832T>G (p.Leu278Val) rs777914291
NM_015443.4(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val) rs766991003
NM_015443.4(KANSL1):c.869G>A (p.Arg290Gln) rs775473139
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr) rs747048362
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn) rs1435339492
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys) rs755353984
NM_015443.4(KANSL1):c.896G>A (p.Arg299His) rs201785695
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly) rs780539765
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) rs1189248208
NM_015443.4(KANSL1):c.907A>G (p.Lys303Glu) rs1263813959
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305
NM_015443.4(KANSL1):c.937G>C (p.Val313Leu)
NM_015443.4(KANSL1):c.951A>G (p.Ile317Met) rs776437091
NM_015443.4(KANSL1):c.979A>T (p.Lys327Ter) rs2046265286
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg) rs570475423

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