ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance for Koolen-de Vries syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 206
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NM_015443.4(KANSL1):c.1002C>G (p.Asn334Lys)
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser)
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser)
NM_015443.4(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly)
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile)
NM_015443.4(KANSL1):c.1104C>G (p.Ser368Arg)
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.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.1180A>G (p.Ser394Gly)
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)
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)
NM_015443.4(KANSL1):c.1289+3G>A
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)
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His)
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.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
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu)
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.1600C>G (p.Leu534Val)
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)
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>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
NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln)
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser)
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val)
NM_015443.4(KANSL1):c.1870C>T (p.Arg624Cys) rs368180304
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser)
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)
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
NM_015443.4(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser)
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)
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)
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met)
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met)
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His)
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser)
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu)
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr)
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)
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg)
NM_015443.4(KANSL1):c.2446C>T (p.His816Tyr)
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp)
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter)
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del)
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.2677G>A (p.Val893Ile) rs1057523139
NM_015443.4(KANSL1):c.2724+5T>G
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr)
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu) rs752219095
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu)
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.3016G>T (p.Ala1006Ser)
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)
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)
NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys)
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)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
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.406G>C (p.Glu136Gln)
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val)
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer)
NM_015443.4(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_015443.4(KANSL1):c.509A>G (p.His170Arg)
NM_015443.4(KANSL1):c.515A>T (p.Asn172Ile)
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile)
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs) rs1567763809
NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu)
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)
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp)
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) rs767960522
NM_015443.4(KANSL1):c.577A>G (p.Met193Val)
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)
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)
NM_015443.4(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
NM_015443.4(KANSL1):c.652G>C (p.Glu218Gln)
NM_015443.4(KANSL1):c.658A>C (p.Thr220Pro)
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser)
NM_015443.4(KANSL1):c.665T>C (p.Leu222Ser)
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
NM_015443.4(KANSL1):c.680G>T (p.Ser227Ile) rs150345690
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
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)
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn)
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)
NM_015443.4(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)
NM_015443.4(KANSL1):c.869G>A (p.Arg290Gln)
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr) rs747048362
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn)
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)
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)
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)
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)

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.