Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


950 records found for search term Kank1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405290360CV3221522single nucleotide variantNM_015158.5(KANK1):c.*8C>GKANK1-related disorder [RCV004540751]likely benign9745243745243Humanname , trait , alternate_id
150517207CV1226655single nucleotide variantNM_015158.5(KANK1):c.-19T>Cnot provided [RCV001639749]benign9676954676954Humanname
150441912CV1264350single nucleotide variantNM_015158.5(KANK1):c.*54C>Tnot provided [RCV001679333]benign9745289745289Humanname
150468359CV1267925single nucleotide variantNM_015158.5(KANK1):c.*178A>Gnot provided [RCV001694788]benign9745413745413Humanname
150535905CV1309044single nucleotide variantNM_015158.5(KANK1):c.*195G>Anot provided [RCV001759251]likely benign9745430745430Humanname
401924247CV2828714single nucleotide variantNM_015158.5(KANK1):c.38-2A>Tnot provided [RCV003435675]uncertain significance9710802710802Humanname
405235567CV2976588single nucleotide variantNM_015158.5(KANK1):c.37+9G>Cnot provided [RCV003683020]likely benign9677018677018Humanname
150451970CV1232871single nucleotide variantNM_015158.5(KANK1):c.37+80G>Anot provided [RCV001647946]benign9677089677089Humanname
405240071CV2993593single nucleotide variantNM_015158.5(KANK1):c.38-16T>Gnot provided [RCV003719009]likely benign9710788710788Humanname
597878671CV3783147single nucleotide variantNM_015158.5(KANK1):c.37+11G>Cnot provided [RCV005123849]likely benign9677020677020Humanname
150516192CV1216473single nucleotide variantNM_015158.5(KANK1):c.38-174C>Anot provided [RCV001608664]benign9710630710630Humanname
150475487CV1237801single nucleotide variantNM_015158.5(KANK1):c.38-164C>Anot provided [RCV001651922]benign9710640710640Humanname
150444447CV1249419single nucleotide variantNM_015158.5(KANK1):c.37+132A>Gnot provided [RCV001666851]benign9677141677141Humanname
150487993CV1251604single nucleotide variantNM_015158.5(KANK1):c.-83-70A>Gnot provided [RCV001674275]benign9676820676820Humanname
150445361CV1269422deletionNM_015158.5(KANK1):c.38-174delnot provided [RCV001691110]benign9710630710630Humanname
150484630CV1273853deletionNM_015158.5(KANK1):c.38-164delnot provided [RCV001698538]benign9710640710640Humanname
150541468CV1306372single nucleotide variantNM_015158.5(KANK1):c.38-151C>Tnot provided [RCV001767994]likely benign9710653710653Humanname
150545303CV1307717single nucleotide variantNM_015158.5(KANK1):c.37+202C>Gnot provided [RCV001774995]likely benign9677211677211Humanname
150542382CV1307751deletionNM_015158.5(KANK1):c.3554-5delnot provided [RCV001769526]likely benign9740770740770Humanname
150539408CV1308776single nucleotide variantNM_015158.5(KANK1):c.38-178A>Cnot provided [RCV001766280]likely benign9710626710626Humanname
151871896CV1436699single nucleotide variantNM_015158.5(KANK1):c.3897+6C>TKANK1-related disorder [RCV004538705]|not provided [RCV001998454]likely benign|uncertain significance9742411742411Human1name , trait , alternate_id
151791253CV1489944single nucleotide variantNM_015158.5(KANK1):c.2896+2T>GCerebral palsy, spastic quadriplegic, 2 [RCV002479419]|not provided [RCV001952071]uncertain significance9730250730250Human1name
152161531CV1619448single nucleotide variantNM_015158.5(KANK1):c.3696+8C>TCerebral palsy, spastic quadriplegic, 2 [RCV002479851]|KANK1-related disorder [RCV004538776]|not provided [RCV002159726]likely benign9740942740942Human1name , trait , alternate_id
152044622CV1637876single nucleotide variantNM_015158.5(KANK1):c.3005+9A>TCerebral palsy, spastic quadriplegic, 2 [RCV002480969]|KANK1-related disorder [RCV004531424]|not provided [RCV002144941]benign|likely benign9731275731275Human1name , trait , alternate_id
152149078CV1642719single nucleotide variantNM_015158.5(KANK1):c.3245+9C>TCerebral palsy, spastic quadriplegic, 2 [RCV002486990]|KANK1-related disorder [RCV004545235]|not provided [RCV002179170]likely benign9732626732626Human1name , trait , alternate_id
156210737CV1909733single nucleotide variantNM_015158.5(KANK1):c.3697-7C>Tnot provided [RCV002596053]likely benign9742198742198Humanname
156449124CV1944383single nucleotide variantNM_015158.5(KANK1):c.2699-6T>Cnot provided [RCV003121236]likely benign9730045730045Humanname
156161648CV1981243single nucleotide variantNM_015158.5(KANK1):c.2896+8T>Anot provided [RCV002642430]likely benign9730256730256Humanname
11525896CV247039single nucleotide variantNM_015158.5(KANK1):c.3554-5T>Anot provided [RCV000969037]|not specified [RCV000239038]likely benign|uncertain significance9740787740787Humanname
401856377CV2752459single nucleotide variantNM_015158.5(KANK1):c.3333+1G>ACerebral palsy, spastic quadriplegic, 2 [RCV003340797]uncertain significance9734836734836Human1name
401924251CV2828716single nucleotide variantNM_015158.5(KANK1):c.3334-3C>Tnot provided [RCV003435677]likely benign9738282738282Humanname
402491529CV2877715single nucleotide variantNM_015158.5(KANK1):c.3333+3G>Anot provided [RCV003544991]uncertain significance9734838734838Humanname
405132826CV3021999single nucleotide variantNM_015158.5(KANK1):c.2896+6T>Gnot provided [RCV003701824]uncertain significance9730254730254Humanname
405041831CV3141094single nucleotide variantNM_015158.5(KANK1):c.3897+1G>Anot provided [RCV003831387]uncertain significance9742406742406Humanname
597937907CV3760009single nucleotide variantNM_015158.5(KANK1):c.2699-5G>Cnot provided [RCV005076933]likely benign9730046730046Humanname
15172637CV730648duplicationNM_015158.5(KANK1):c.3554-4dupnot provided [RCV000883880]benign|likely benign9740787740788Humanname
15158819CV777757single nucleotide variantNM_015158.5(KANK1):c.3553+5G>Anot provided [RCV000947148]benign9738509738509Humanname
15198223CV777827single nucleotide variantNM_015158.5(KANK1):c.3333+4A>Cnot provided [RCV000956690]benign9734839734839Humanname
15146120CV779450single nucleotide variantNM_015158.5(KANK1):c.3696+4A>Gnot provided [RCV000967112]benign|likely benign9740938740938Humanname
127312376CV1156254single nucleotide variantNM_015158.5(KANK1):c.3245+12T>CCerebral palsy, spastic quadriplegic, 2 [RCV002495819]|not provided [RCV001518923]benign|likely benign9732629732629Human1name
127320671CV1156255single nucleotide variantNM_015158.5(KANK1):c.3333+19C>Gnot provided [RCV001522749]benign9734854734854Humanname
127321837CV1156259single nucleotide variantNM_015158.5(KANK1):c.3997-17C>Gnot provided [RCV001523247]benign9745156745156Humanname
150337606CV1172008single nucleotide variantNM_015158.5(KANK1):c.3554-31C>Gnot provided [RCV001541756]benign9740761740761Humanname
150332708CV1172009single nucleotide variantNM_015158.5(KANK1):c.3696+38G>Cnot provided [RCV001539155]benign9740972740972Humanname
150510408CV1211650single nucleotide variantNM_015158.5(KANK1):c.-83-198T>Cnot provided [RCV001597442]benign9676692676692Humanname
150443851CV1232932single nucleotide variantNM_015158.5(KANK1):c.3005+66A>Gnot provided [RCV001645604]benign9731332731332Humanname
150445284CV1233151single nucleotide variantNM_015158.5(KANK1):c.-83-186T>Cnot provided [RCV001645824]benign9676704676704Humanname
150497823CV1236423duplicationNM_015158.5(KANK1):c.3246-73dupnot provided [RCV001656148]benign9734665734666Humanname
150475775CV1239786single nucleotide variantNM_015158.5(KANK1):c.3334-47G>Anot provided [RCV001651963]benign9738238738238Humanname
150506107CV1242133single nucleotide variantNM_015158.5(KANK1):c.3696+83A>Gnot provided [RCV001658486]benign9741017741017Humanname
150440614CV1246601single nucleotide variantNM_015158.5(KANK1):c.-83-321C>Tnot provided [RCV001666254]benign9676569676569Humanname
150443394CV1249275single nucleotide variantNM_015158.5(KANK1):c.3006-76T>Cnot provided [RCV001666707]benign9732302732302Humanname
150437434CV1249868single nucleotide variantNM_015158.5(KANK1):c.2896+90T>Cnot provided [RCV001665782]benign9730338730338Humanname
150488949CV1250461single nucleotide variantNM_015158.5(KANK1):c.3246-69G>Tnot provided [RCV001674423]benign9734679734679Humanname
150487564CV1251544single nucleotide variantNM_015158.5(KANK1):c.-83-145A>Gnot provided [RCV001674215]benign9676745676745Humanname
150472008CV1252177single nucleotide variantNM_015158.5(KANK1):c.3245+87T>Anot provided [RCV001671378]benign9732704732704Humanname
150467991CV1256985single nucleotide variantNM_015158.5(KANK1):c.3696+67T>Cnot provided [RCV001670631]benign9741001741001Humanname
150456379CV1260004single nucleotide variantNM_015158.5(KANK1):c.2699-79G>Anot provided [RCV001681483]benign9729972729972Humanname
150458925CV1269715single nucleotide variantNM_015158.5(KANK1):c.-83-149A>Gnot provided [RCV001693255]benign9676741676741Humanname
150475677CV1271226single nucleotide variantNM_015158.5(KANK1):c.2699-83A>Cnot provided [RCV001696049]benign9729968729968Humanname
150446915CV1271940single nucleotide variantNM_015158.5(KANK1):c.-83-319T>Cnot provided [RCV001691354]benign9676571676571Humanname
150514588CV1285253single nucleotide variantNM_015158.5(KANK1):c.3898-73T>Cnot provided [RCV001722706]benign9744418744418Humanname
150535897CV1306316single nucleotide variantNM_015158.5(KANK1):c.3334-35A>Gnot provided [RCV001759244]likely benign9738250738250Humanname
150535899CV1306317single nucleotide variantNM_015158.5(KANK1):c.3897+84G>Cnot provided [RCV001759245]likely benign9742489742489Humanname
150541482CV1306380single nucleotide variantNM_015158.5(KANK1):c.-83-244A>Gnot provided [RCV001768002]likely benign9676646676646Humanname
150542712CV1306581single nucleotide variantNM_015158.5(KANK1):c.3996+34C>Tnot provided [RCV001769645]likely benign9744623744623Humanname
150535790CV1307089single nucleotide variantNM_015158.5(KANK1):c.3697-86C>Tnot provided [RCV001759144]likely benign9742119742119Humanname
150535829CV1307125single nucleotide variantNM_015158.5(KANK1):c.2896+89T>Cnot provided [RCV001759180]likely benign9730337730337Humanname
150536173CV1309168single nucleotide variantNM_015158.5(KANK1):c.3005+83C>Tnot provided [RCV001759375]likely benign9731349731349Humanname
151864372CV1336826single nucleotide variantNM_015158.5(KANK1):c.2699-85T>Cnot provided [RCV002034862]likely benign9729966729966Humanname
152037441CV1529598single nucleotide variantNM_015158.5(KANK1):c.3897+19G>Anot provided [RCV002187744]likely benign9742424742424Humanname
152139868CV1549751single nucleotide variantNM_015158.5(KANK1):c.3245+18T>Anot provided [RCV002156622]likely benign9732635732635Humanname
152128441CV1584134single nucleotide variantNM_015158.5(KANK1):c.3697-17G>Cnot provided [RCV002082537]likely benign9742188742188Humanname
152118524CV1600540single nucleotide variantNM_015158.5(KANK1):c.2698+11C>Tnot provided [RCV002153956]likely benign9713475713475Humanname
152036488CV1605311single nucleotide variantNM_015158.5(KANK1):c.3996+15T>Cnot provided [RCV002087294]likely benign9744604744604Humanname
152130169CV1610525single nucleotide variantNM_015158.5(KANK1):c.3006-12A>Gnot provided [RCV002136823]benign9732366732366Humanname
152070371CV1622831single nucleotide variantNM_015158.5(KANK1):c.3697-10C>Gnot provided [RCV002209899]likely benign9742195742195Humanname
156406243CV1963533single nucleotide variantNM_015158.5(KANK1):c.3246-13T>Cnot provided [RCV002585839]likely benign9734735734735Humanname
155913695CV2021859single nucleotide variantNM_015158.5(KANK1):c.3334-13G>Tnot provided [RCV002726988]likely benign9738272738272Humanname
156246422CV2044750single nucleotide variantNM_015158.5(KANK1):c.3006-16C>Gnot provided [RCV002805859]likely benign9732362732362Humanname
155971533CV2079250single nucleotide variantNM_015158.5(KANK1):c.3245+15C>Tnot provided [RCV002881511]likely benign9732632732632Humanname
156350229CV2189563single nucleotide variantNM_015158.5(KANK1):c.2896+13A>Cnot provided [RCV003048275]likely benign9730261730261Humanname
401727312CV2736281single nucleotide variantNM_015158.5(KANK1):c.38-3361G>Anot provided [RCV003312729]likely benign9707443707443Humanname
401924246CV2828713single nucleotide variantNM_015158.5(KANK1):c.38-2535T>Gnot provided [RCV003435674]benign9708269708269Humanname
405168876CV2854101single nucleotide variantNM_015158.5(KANK1):c.3246-13T>Anot provided [RCV003542005]likely benign9734735734735Humanname
405120255CV2952195single nucleotide variantNM_015158.5(KANK1):c.3553+11T>Cnot provided [RCV003671346]likely benign9738515738515Humanname
405244257CV3050538single nucleotide variantNM_015158.5(KANK1):c.3697-10C>Anot provided [RCV003719937]likely benign9742195742195Humanname
405195669CV3146534single nucleotide variantNM_015158.5(KANK1):c.3006-13A>Cnot provided [RCV003843889]likely benign9732365732365Humanname
405236902CV3169035single nucleotide variantNM_015158.5(KANK1):c.3333+17A>Gnot provided [RCV003866314]likely benign9734852734852Humanname
404991143CV3176281single nucleotide variantNM_015158.5(KANK1):c.3997-19T>Cnot provided [RCV003881606]likely benign9745154745154Humanname
597921366CV3738378single nucleotide variantNM_015158.5(KANK1):c.3996+12G>Anot provided [RCV005074784]likely benign9744601744601Humanname
597908143CV3738987single nucleotide variantNM_015158.5(KANK1):c.3553+20A>Gnot provided [RCV005073222]likely benign9738524738524Humanname
597965875CV3797154single nucleotide variantNM_015158.5(KANK1):c.3553+14C>Tnot provided [RCV005140113]likely benign9738518738518Humanname
13462909CV439217single nucleotide variantNM_015158.5(KANK1):c.2896+18C>Tnot provided [RCV000515057]benign|likely benign9730266730266Humanname
150336325CV1165002single nucleotide variantNM_015158.5(KANK1):c.3006-323G>Anot provided [RCV001530794]benign9732055732055Humanname
150339924CV1168188single nucleotide variantNM_015158.5(KANK1):c.3246-103G>Anot provided [RCV001534753]benign9734645734645Human1name
150339924CV1168188single nucleotide variantNM_015158.5(KANK1):c.3246-103G>Anot provided [RCV001534753]benign9734645734646Human1name
150336125CV1172007single nucleotide variantNM_015158.5(KANK1):c.2896+242G>Anot provided [RCV001540852]benign9730490730490Humanname
150504977CV1211506deletionNM_015158.5(KANK1):c.3898-267delnot provided [RCV001595671]benign9744223744223Humanname
150462410CV1214641single nucleotide variantNM_015158.5(KANK1):c.3554-200G>Cnot provided [RCV001613634]benign9740592740592Humanname
150446956CV1215738single nucleotide variantNM_015158.5(KANK1):c.2698+112A>Tnot provided [RCV001611331]benign9713576713576Humanname
150478600CV1218812duplicationNM_015158.5(KANK1):c.3898-246dupnot provided [RCV001616440]benign9744242744243Humanname
150501943CV1224339single nucleotide variantNM_015158.5(KANK1):c.3245+275G>Cnot provided [RCV001620980]benign9732892732892Humanname
150492812CV1225543single nucleotide variantNM_015158.5(KANK1):c.3005+154G>Tnot provided [RCV001619059]benign9731420731420Humanname
150514209CV1228108single nucleotide variantNM_015158.5(KANK1):c.2896+225T>Gnot provided [RCV001638386]benign9730473730473Humanname
150509048CV1229793single nucleotide variantNM_015158.5(KANK1):c.3696+290C>Gnot provided [RCV001636372]benign9741224741224Humanname
150433837CV1230638single nucleotide variantNM_015158.5(KANK1):c.3245+162A>Gnot provided [RCV001643584]benign9732779732779Humanname
150451046CV1232749single nucleotide variantNM_015158.5(KANK1):c.3006-162C>Tnot provided [RCV001647824]benign9732216732216Humanname
150461736CV1234817single nucleotide variantNM_015158.5(KANK1):c.2698+304T>Anot provided [RCV001649399]benign9713768713768Humanname
150462579CV1234933single nucleotide variantNM_015158.5(KANK1):c.3245+113C>Gnot provided [RCV001649515]benign9732730732730Humanname
150457940CV1237145single nucleotide variantNM_015158.5(KANK1):c.2699-293G>Anot provided [RCV001648824]benign9729758729758Humanname
150493926CV1238766single nucleotide variantNM_015158.5(KANK1):c.3334-230T>Cnot provided [RCV001655310]benign9738055738055Humanname
150475782CV1239787single nucleotide variantNM_015158.5(KANK1):c.2897-341G>Anot provided [RCV001651964]benign9730817730817Humanname
150511099CV1242605single nucleotide variantNM_015158.5(KANK1):c.2896+212G>Anot provided [RCV001660957]benign9730460730460Humanname
150471010CV1248129single nucleotide variantNM_015158.5(KANK1):c.3997-135T>Anot provided [RCV001671165]benign9745038745038Humanname
150490348CV1251011deletionNM_015158.5(KANK1):c.3696+314delnot provided [RCV001674678]benign9741248741248Humanname
150448422CV1253549single nucleotide variantNM_015158.5(KANK1):c.3996+148G>Anot provided [RCV001667477]benign9744737744737Humanname
150501724CV1256378single nucleotide variantNM_015158.5(KANK1):c.3696+150C>Tnot provided [RCV001677002]benign9741084741084Humanname
150460253CV1264144single nucleotide variantNM_015158.5(KANK1):c.3696+127C>Tnot provided [RCV001682060]benign9741061741061Humanname
150442423CV1264430single nucleotide variantNM_015158.5(KANK1):c.3696+253T>Cnot provided [RCV001679413]benign9741187741187Humanname
150469451CV1268100single nucleotide variantNM_015158.5(KANK1):c.3554-320G>Anot provided [RCV001694963]benign9740472740472Humanname
150462906CV1273077single nucleotide variantNM_015158.5(KANK1):c.3006-159C>Gnot provided [RCV001693834]benign9732219732219Humanname
150452314CV1276715single nucleotide variantNM_015158.5(KANK1):c.3897+237T>Gnot provided [RCV001708504]benign9742642742642Humanname
150465067CV1277178single nucleotide variantNM_015158.5(KANK1):c.3696+107T>Gnot provided [RCV001710472]benign9741041741041Humanname
150466521CV1277419single nucleotide variantNM_015158.5(KANK1):c.3245+283T>Cnot provided [RCV001710714]benign9732900732900Humanname
150514729CV1285301single nucleotide variantNM_015158.5(KANK1):c.3333+254G>Anot provided [RCV001722754]benign9735089735089Humanname
150541445CV1306356single nucleotide variantNM_015158.5(KANK1):c.3553+133A>Gnot provided [RCV001767978]likely benign9738637738637Humanname
150542450CV1307770single nucleotide variantNM_015158.5(KANK1):c.3246-133A>Gnot provided [RCV001769545]likely benign9734615734615Humanname
150542459CV1307772single nucleotide variantNM_015158.5(KANK1):c.3246-126T>Cnot provided [RCV001769547]likely benign9734622734622Humanname
151864381CV1336827single nucleotide variantNM_015158.5(KANK1):c.3005+134G>Anot provided [RCV002034863]likely benign9731400731400Humanname
407457656CV3416142single nucleotide variantNM_015158.5(KANK1):c.3333+915T>Gnot provided [RCV004599020]likely benign9735750735750Humanname
598129668CV3887087single nucleotide variantNM_015158.5(KANK1):c.3333+921G>Anot provided [RCV005245147]likely benign9735756735756Humanname
151883604CV1452416duplicationNM_015158.5(KANK1):c.3554_3556dupKANK1-related disorder [RCV004536357]|not provided [RCV002037374]uncertain significance9740790740791Human1name , trait , alternate_id
152102118CV1547072single nucleotide variantNM_015158.5(KANK1):c.9C>T (p.His3=)Cerebral palsy, spastic quadriplegic, 2 [RCV002486970]|not provided [RCV002151933]likely benign9676981676981Human1name
152132970CV1666066single nucleotide variantNM_015158.5(KANK1):c.24C>T (p.Asn8=)not provided [RCV002099735]likely benign9676996676996Humanname
10411840CV205466deletionNM_015158.5(KANK1):c.5del (p.Ala2fs)Abnormality of neuronal migration [RCV000201405]benign9676977676977Human1name
150509713CV1229971deletionNM_015158.5(KANK1):c.38-174_38-164delnot provided [RCV001636551]benign9710630710640Humanname
150460488CV1269809deletionNM_015158.5(KANK1):c.38-174_38-163delnot provided [RCV001693512]benign9710629710640Humanname
150481661CV1279803deletionNM_015158.5(KANK1):c.38-164_38-163delnot provided [RCV001714887]benign9710639710640Humanname
150482557CV1280011deletionNM_015158.5(KANK1):c.38-164_38-162delnot provided [RCV001715042]benign9710638710640Humanname
152115144CV1552614single nucleotide variantNM_015158.5(KANK1):c.66C>T (p.Asp22=)not provided [RCV002153558]likely benign9710832710832Humanname
152141071CV1628879single nucleotide variantNM_015158.5(KANK1):c.93C>T (p.Tyr31=)Cerebral palsy, spastic quadriplegic, 2 [RCV002499934]|not provided [RCV002100785]likely benign9710859710859Human1name
152098128CV1650297microsatelliteNM_015158.5(KANK1):c.3898-7_3898-3delnot provided [RCV002114971]likely benign9744478744482Humanname
155747580CV1774688single nucleotide variantNM_015158.5(KANK1):c.8A>G (p.His3Arg)not provided [RCV002303682]uncertain significance9676980676980Humanname
155949030CV2162445single nucleotide variantNM_015158.5(KANK1):c.1A>T (p.Met1Leu)not provided [RCV003014744]uncertain significance9676973676973Humanname
405114343CV2956817deletionNM_015158.5(KANK1):c.3006-9_3006-5delnot provided [RCV003666732]likely benign9732369732373Humanname
407467280CV3448225single nucleotide variantNM_015158.5(KANK1):c.7C>T (p.His3Tyr)not specified [RCV004635853]likely benign9676979676979Humanname
616939681CV4014178single nucleotide variantNM_015158.5(KANK1):c.81G>A (p.Gln27=)not provided [RCV005413670]likely benign9710847710847Humanname
38462795CV920275deletionNM_015158.5(KANK1):c.3554-9_3554-5delCerebral palsy, spastic quadriplegic, 2 [RCV001198689]benign9740770740774Human1name
150465415CV1218016insertionNM_015158.5(KANK1):c.-83-53_-83-52insGnot provided [RCV001614141]benign9676837676838Humanname
150454729CV1259447deletionNM_015158.5(KANK1):c.3554-11_3554-5delnot provided [RCV001681221]benign9740770740776Humanname
151722408CV1498059single nucleotide variantNM_015158.5(KANK1):c.16A>G (p.Lys6Glu)not provided [RCV001983276]likely benign9676988676988Humanname
152141345CV1526490single nucleotide variantNM_015158.5(KANK1):c.121C>T (p.Leu41=)not provided [RCV002084197]likely benign9710887710887Humanname
152028622CV1655320single nucleotide variantNM_015158.5(KANK1):c.264C>T (p.Ser88=)not provided [RCV002105298]likely benign9711030711030Humanname
156281747CV1896837single nucleotide variantNM_015158.5(KANK1):c.207G>A (p.Pro69=)not provided [RCV003087141]likely benign9710973710973Humanname
156101235CV2011599deletionNM_015158.5(KANK1):c.2897-13_2897-9delnot provided [RCV002695315]likely benign9731142731146Humanname
156140159CV2044440single nucleotide variantNM_015158.5(KANK1):c.219C>T (p.Cys73=)not provided [RCV002800920]likely benign9710985710985Humanname
405197787CV2976188single nucleotide variantNM_015158.5(KANK1):c.216A>G (p.Pro72=)not provided [RCV003677781]likely benign9710982710982Humanname
405255161CV3171957single nucleotide variantNM_015158.5(KANK1):c.14C>G (p.Thr5Arg)not provided [RCV003872080]uncertain significance9676986676986Humanname
405288841CV3209992single nucleotide variantNM_015158.5(KANK1):c.183G>A (p.Leu61=)KANK1-related disorder [RCV004544106]likely benign9710949710949Humanname , trait , alternate_id
407426297CV3409831single nucleotide variantNM_015158.5(KANK1):c.138C>T (p.Leu46=)not provided [RCV004585763]likely benign9710904710904Humanname
407455879CV3415769single nucleotide variantNM_015158.5(KANK1):c.204G>A (p.Lys68=)not provided [RCV004598645]likely benign9710970710970Humanname
597778138CV3691579single nucleotide variantNM_015158.5(KANK1):c.17A>T (p.Lys6Met)not specified [RCV004930058]uncertain significance9676989676989Humanname
597778175CV3691588single nucleotide variantNM_015158.5(KANK1):c.25G>C (p.Gly9Arg)not specified [RCV004930067]uncertain significance9676997676997Humanname
597917811CV3737757single nucleotide variantNM_015158.5(KANK1):c.162G>A (p.Lys54=)not provided [RCV005074356]likely benign9710928710928Humanname
597856909CV3748106single nucleotide variantNM_015158.5(KANK1):c.213G>C (p.Val71=)not provided [RCV005066928]likely benign9710979710979Humanname
597956614CV3838267single nucleotide variantNM_015158.5(KANK1):c.120A>G (p.Gln40=)not provided [RCV005191642]likely benign9710886710886Humanname
597943287CV3847645single nucleotide variantNM_015158.5(KANK1):c.171C>A (p.Thr57=)not provided [RCV005188373]likely benign9710937710937Humanname
598233904CV3979878single nucleotide variantNM_015158.5(KANK1):c.25G>A (p.Gly9Ser)not specified [RCV005363431]likely benign9676997676997Humanname
13462831CV439328deletionNM_015158.5(KANK1):c.3554-10_3554-5delnot provided [RCV000514909]benign|likely benign9740770740775Humanname
15138180CV783435single nucleotide variantNM_015158.5(KANK1):c.195G>A (p.Lys65=)not provided [RCV000982429]benign9710961710961Humanname
21069897CV796328single nucleotide variantNM_015158.5(KANK1):c.267T>A (p.Thr89=)not provided [RCV000999116]uncertain significance9711033711033Humanname
150453312CV1276830deletionNM_015158.5(KANK1):c.2699-85_2699-84delnot provided [RCV001708620]benign9729966729967Humanname
150552628CV1306545single nucleotide variantNM_015158.5(KANK1):c.52A>G (p.Ile18Val)not provided [RCV001768168]benign|likely benign9710818710818Humanname
151747144CV1371333single nucleotide variantNM_015158.5(KANK1):c.46G>C (p.Gly16Arg)Cerebral palsy, spastic quadriplegic, 2 [RCV002484499]|not provided [RCV001947727]uncertain significance9710812710812Human1name
152169669CV1529308single nucleotide variantNM_015158.5(KANK1):c.906C>T (p.Val302=)not provided [RCV002161519]likely benign9711672711672Humanname
152092843CV1567863single nucleotide variantNM_015158.5(KANK1):c.657T>C (p.Asn219=)not provided [RCV002212966]likely benign9711423711423Humanname
152086209CV1578038single nucleotide variantNM_015158.5(KANK1):c.453C>T (p.Asn151=)Cerebral palsy, spastic quadriplegic, 2 [RCV002500101]|not provided [RCV002171201]benign|likely benign9711219711219Human1name
152128767CV1584190single nucleotide variantNM_015158.5(KANK1):c.792C>G (p.Arg264=)not provided [RCV002082577]likely benign9711558711558Humanname
152063662CV1587873single nucleotide variantNM_015158.5(KANK1):c.468G>A (p.Lys156=)not provided [RCV002090580]likely benign9711234711234Humanname
152026556CV1594686single nucleotide variantNM_015158.5(KANK1):c.528G>A (p.Pro176=)not provided [RCV002104595]benign|likely benign9711294711294Humanname
152099751CV1655156insertionNM_015158.5(KANK1):c.3554-5_3554-4insTACerebral palsy, spastic quadriplegic, 2 [RCV002499978]|not provided [RCV002115171]likely benign9740787740788Human1name
155711167CV1775839single nucleotide variantNM_015158.5(KANK1):c.59G>A (p.Ser20Asn)not provided [RCV002296205]uncertain significance9710825710825Humanname
155794414CV1858536deletionNM_015158.5(KANK1):c.38-3358_38-2787delSchizophrenia [RCV002463498]uncertain significance9707446708017Human2name
156209430CV1959548single nucleotide variantNM_015158.5(KANK1):c.822G>T (p.Leu274=)not provided [RCV002575093]likely benign9711588711588Humanname
156409360CV1961767deletionNM_015158.5(KANK1):c.3245+16_3245+21delnot provided [RCV002586793]likely benign9732628732633Humanname
156357477CV2020165single nucleotide variantNM_015158.5(KANK1):c.88C>T (p.Pro30Ser)not provided [RCV002720633]uncertain significance9710854710854Humanname
155960501CV2131789single nucleotide variantNM_015158.5(KANK1):c.820C>T (p.Leu274=)not provided [RCV002995131]likely benign9711586711586Humanname
155993271CV2171366single nucleotide variantNM_015158.5(KANK1):c.528G>T (p.Pro176=)not provided [RCV003034428]likely benign9711294711294Humanname
401924250CV2828715single nucleotide variantNM_015158.5(KANK1):c.603T>G (p.Gly201=)not provided [RCV003435676]likely benign9711369711369Humanname
402505496CV2880008single nucleotide variantNM_015158.5(KANK1):c.792C>T (p.Arg264=)not provided [RCV003546216]likely benign9711558711558Humanname
405128313CV2883141single nucleotide variantNM_015158.5(KANK1):c.35C>T (p.Ser12Leu)not provided [RCV003559720]uncertain significance9677007677007Humanname
402513625CV2991473single nucleotide variantNM_015158.5(KANK1):c.969C>T (p.Ser323=)not provided [RCV003689753]likely benign9711735711735Humanname
405246656CV3048205single nucleotide variantNM_015158.5(KANK1):c.984C>T (p.Asn328=)not provided [RCV003720584]likely benign9711750711750Humanname
405274075CV3211537single nucleotide variantNM_015158.5(KANK1):c.819C>T (p.Arg273=)KANK1-related disorder [RCV004542344]|not provided [RCV005101834]likely benign9711585711585Human1name , trait , alternate_id
597778198CV3691594single nucleotide variantNM_015158.5(KANK1):c.67C>G (p.Gln23Glu)not specified [RCV004930073]uncertain significance9710833710833Humanname
598212367CV3979889single nucleotide variantNM_015158.5(KANK1):c.44C>A (p.Ala15Glu)not specified [RCV005358816]uncertain significance9710810710810Humanname
13519821CV493713single nucleotide variantNM_015158.5(KANK1):c.95T>C (p.Phe32Ser)KANK1-related disorder [RCV004543389]|not provided [RCV000598173]likely benign|conflicting interpretations of pathogenicity|uncertain significance9710861710861Human1name , trait , alternate_id
15173123CV701046variationNM_015158.5(KANK1):c.3834= (p.Gly1278=)not provided [RCV000950173]likely benign9742342742342Humanname
15112893CV723610single nucleotide variantNM_015158.5(KANK1):c.783G>A (p.Gln261=)Cerebral palsy, spastic quadriplegic, 2 [RCV002501494]|KANK1-related disorder [RCV004541843]|not provided [RCV000894556]likely benign9711549711549Human1name , trait , alternate_id
15151582CV723611single nucleotide variantNM_015158.5(KANK1):c.804C>T (p.Ala268=)Cerebral palsy, spastic quadriplegic, 2 [RCV002507550]|not provided [RCV000879626]benign|likely benign9711570711570Human1name
15176827CV737173single nucleotide variantNM_015158.5(KANK1):c.561T>C (p.Phe187=)Cerebral palsy, spastic quadriplegic, 2 [RCV002487977]|not provided [RCV000906515]likely benign9711327711327Human1name
15185260CV737174single nucleotide variantNM_015158.5(KANK1):c.624C>G (p.Ala208=)Cerebral palsy, spastic quadriplegic, 2 [RCV002502715]|not provided [RCV000908478]benign|likely benign9711390711390Human1name
15120225CV751750single nucleotide variantNM_015158.5(KANK1):c.564A>G (p.Gly188=)Cerebral palsy, spastic quadriplegic, 2 [RCV002505359]|not provided [RCV000918285]likely benign9711330711330Human1name
15193634CV751751single nucleotide variantNM_015158.5(KANK1):c.906C>G (p.Val302=)not provided [RCV000910896]likely benign9711672711672Humanname
15138248CV783436single nucleotide variantNM_015158.5(KANK1):c.978G>A (p.Ala326=)not provided [RCV000982441]likely benign9711744711744Humanname
126908058CV1046228single nucleotide variantNM_015158.5(KANK1):c.255A>G (p.Ile85Met)Cerebral palsy, spastic quadriplegic, 2 [RCV002499750]|not provided [RCV001367537]|not specified [RCV004037013]uncertain significance9711021711021Human1name
127311108CV1156242single nucleotide variantNM_015158.5(KANK1):c.200G>A (p.Arg67Gln)not provided [RCV001518499]benign9710966710966Humanname
127311123CV1156245single nucleotide variantNM_015158.5(KANK1):c.1300A>C (p.Arg434=)not provided [RCV001518501]benign9712066712066Humanname
127316396CV1156246single nucleotide variantNM_015158.5(KANK1):c.1371G>C (p.Leu457=)not provided [RCV001520477]benign9712137712137Humanname
127302688CV1156248single nucleotide variantNM_015158.5(KANK1):c.1833C>T (p.Asn611=)not provided [RCV001515160]benign9712599712599Human1name
127302688CV1156248single nucleotide variantNM_015158.5(KANK1):c.1833C>T (p.Asn611=)not provided [RCV001515160]benign9712599712600Human1name
127291799CV1156249single nucleotide variantNM_015158.5(KANK1):c.1908C>T (p.Asp636=)not provided [RCV001510560]benign9712674712674Humanname
127301036CV1156251single nucleotide variantNM_015158.5(KANK1):c.2541A>G (p.Glu847=)not provided [RCV001514491]benign9713307713307Humanname
151748763CV1431020single nucleotide variantNM_015158.5(KANK1):c.226C>T (p.Pro76Ser)Cerebral palsy, spastic quadriplegic, 2 [RCV002490177]|not provided [RCV001912753]|not specified [RCV004041650]likely benign|conflicting interpretations of pathogenicity|uncertain significance9710992710992Human1name
151809925CV1459947single nucleotide variantNM_015158.5(KANK1):c.106C>T (p.Pro36Ser)not provided [RCV002048757]uncertain significance9710872710872Humanname
151737208CV1463738single nucleotide variantNM_015158.5(KANK1):c.1218G>A (p.Glu406=)not provided [RCV001911543]likely benign|uncertain significance9711984711984Humanname
151795940CV1505565single nucleotide variantNM_015158.5(KANK1):c.148G>T (p.Asp50Tyr)Cerebral palsy, spastic quadriplegic, 2 [RCV002489945]|not provided [RCV002047542]uncertain significance9710914710914Human1name
152147601CV1528621single nucleotide variantNM_015158.5(KANK1):c.1926A>G (p.Pro642=)not provided [RCV002101722]likely benign9712692712692Humanname
152060627CV1540652single nucleotide variantNM_015158.5(KANK1):c.1236C>T (p.Ile412=)not provided [RCV002110068]likely benign9712002712002Humanname
152063811CV1554496single nucleotide variantNM_015158.5(KANK1):c.1131G>A (p.Leu377=)not provided [RCV002190863]likely benign9711897711897Humanname
152137220CV1563357single nucleotide variantNM_015158.5(KANK1):c.1995G>A (p.Val665=)KANK1-related disorder [RCV004543729]|not provided [RCV002200106]likely benign9712761712761Human1name , trait , alternate_id
152121580CV1570270single nucleotide variantNM_015158.5(KANK1):c.1785G>A (p.Val595=)not provided [RCV002216852]likely benign9712551712551Humanname
152037952CV1576559single nucleotide variantNM_015158.5(KANK1):c.1287A>C (p.Thr429=)Cerebral palsy, spastic quadriplegic, 2 [RCV002494217]|not provided [RCV002107305]likely benign9712053712053Human1name
152089045CV1577287single nucleotide variantNM_015158.5(KANK1):c.2301C>T (p.Asn767=)not provided [RCV002212468]likely benign9713067713067Humanname
152093004CV1584588single nucleotide variantNM_015158.5(KANK1):c.1947C>T (p.Gly649=)not provided [RCV002114331]likely benign9712713712713Humanname
152131093CV1647674single nucleotide variantNM_015158.5(KANK1):c.151G>A (p.Asp51Asn)not provided [RCV002082871]|not specified [RCV002509751]likely benign|uncertain significance9710917710917Humanname
152049870CV1656320single nucleotide variantNM_015158.5(KANK1):c.2919A>G (p.Thr973=)not provided [RCV002207384]likely benign9731180731180Humanname
152139323CV1660574single nucleotide variantNM_015158.5(KANK1):c.1239C>T (p.Val413=)not provided [RCV002120140]likely benign9712005712005Humanname
156004184CV1869697single nucleotide variantNM_015158.5(KANK1):c.2880C>T (p.Ile960=)not provided [RCV003076737]likely benign9730232730232Humanname
156343446CV1871482single nucleotide variantNM_015158.5(KANK1):c.270A>C (p.Glu90Asp)not provided [RCV003064375]uncertain significance9711036711036Humanname
156394741CV1876979single nucleotide variantNM_015158.5(KANK1):c.1971G>A (p.Gln657=)not provided [RCV003068462]benign|likely benign9712737712737Humanname
156192765CV1904248single nucleotide variantNM_015158.5(KANK1):c.1428T>G (p.Leu476=)not provided [RCV002574467]likely benign9712194712194Humanname
156208867CV1913382single nucleotide variantNM_015158.5(KANK1):c.1527G>A (p.Pro509=)not provided [RCV002595988]likely benign9712293712293Humanname
156028506CV1914123single nucleotide variantNM_015158.5(KANK1):c.196A>G (p.Arg66Gly)not provided [RCV002619740]|not specified [RCV004069064]uncertain significance9710962710962Humanname
156201898CV1916830single nucleotide variantNM_015158.5(KANK1):c.208T>C (p.Ser70Pro)not provided [RCV002595735]uncertain significance9710974710974Humanname
156406841CV1917886single nucleotide variantNM_015158.5(KANK1):c.1026C>T (p.Gly342=)not provided [RCV002606719]likely benign9711792711792Humanname
156419237CV1923042single nucleotide variantNM_015158.5(KANK1):c.1083G>A (p.Thr361=)not provided [RCV002612457]likely benign9711849711849Humanname
156444891CV1949037single nucleotide variantNM_015158.5(KANK1):c.2100A>G (p.Leu700=)KANK1-related disorder [RCV004540618]|not provided [RCV003115822]likely benign9712866712866Human1name , trait , alternate_id
156261885CV1960689single nucleotide variantNM_015158.5(KANK1):c.1414C>T (p.Leu472=)not provided [RCV002576873]likely benign9712180712180Humanname
155968446CV1967969single nucleotide variantNM_015158.5(KANK1):c.157C>A (p.Gln53Lys)not provided [RCV002617066]|not specified [RCV004065688]uncertain significance9710923710923Humanname
155970883CV1978289single nucleotide variantNM_015158.5(KANK1):c.1242G>T (p.Val414=)not provided [RCV002617175]likely benign9712008712008Humanname
156257030CV1981966single nucleotide variantNM_015158.5(KANK1):c.1935C>T (p.Cys645=)not provided [RCV002646086]likely benign9712701712701Humanname
156324733CV1985079single nucleotide variantNM_015158.5(KANK1):c.221C>T (p.Pro74Leu)not provided [RCV002649482]uncertain significance9710987710987Humanname
156300685CV2002107single nucleotide variantNM_015158.5(KANK1):c.2229T>C (p.Ser743=)not provided [RCV002671145]likely benign9712995712995Humanname
155902537CV2007100single nucleotide variantNM_015158.5(KANK1):c.2058C>T (p.Thr686=)not provided [RCV002681192]likely benign9712824712824Humanname
155914593CV2008129single nucleotide variantNM_015158.5(KANK1):c.2142G>A (p.Thr714=)not provided [RCV002681962]likely benign9712908712908Humanname
156198791CV2014635single nucleotide variantNM_015158.5(KANK1):c.1821G>A (p.Glu607=)not provided [RCV002700206]likely benign9712587712587Humanname
155911424CV2014714single nucleotide variantNM_015158.5(KANK1):c.2607C>T (p.Thr869=)KANK1-related disorder [RCV004545369]|not provided [RCV002681748]likely benign9713373713373Human1name , trait , alternate_id
156017191CV2019126single nucleotide variantNM_015158.5(KANK1):c.1497A>G (p.Lys499=)not provided [RCV002690825]likely benign9712263712263Humanname
156234000CV2040069single nucleotide variantNM_015158.5(KANK1):c.149A>G (p.Asp50Gly)not provided [RCV002805425]uncertain significance9710915710915Humanname
155967812CV2059056single nucleotide variantNM_015158.5(KANK1):c.124G>A (p.Asp42Asn)not provided [RCV002776591]uncertain significance9710890710890Humanname
156007901CV2075273single nucleotide variantNM_015158.5(KANK1):c.1659T>G (p.Pro553=)not provided [RCV002843714]likely benign9712425712425Humanname
156308947CV2076141single nucleotide variantNM_015158.5(KANK1):c.2082C>G (p.Ser694=)not provided [RCV002857549]likely benign9712848712848Humanname
156009604CV2083294single nucleotide variantNM_015158.5(KANK1):c.1758G>A (p.Val586=)not provided [RCV002866032]likely benign9712524712524Humanname
156248310CV2086311duplicationNM_015158.5(KANK1):c.920dup (p.Asn307fs)not provided [RCV002876849]uncertain significance9711681711682Humanname
156188132CV2086634single nucleotide variantNM_015158.5(KANK1):c.2160A>G (p.Gly720=)not provided [RCV002852049]likely benign9712926712926Humanname
156103243CV2113462single nucleotide variantNM_015158.5(KANK1):c.2265G>A (p.Lys755=)not provided [RCV002952816]likely benign9713031713031Humanname
156366377CV2116554single nucleotide variantNM_015158.5(KANK1):c.2943A>G (p.Lys981=)not provided [RCV002941981]likely benign9731204731204Humanname
156254553CV2117171single nucleotide variantNM_015158.5(KANK1):c.2817C>T (p.Ser939=)not provided [RCV002933668]likely benign9730169730169Humanname
156352005CV2118670single nucleotide variantNM_015158.5(KANK1):c.1437C>T (p.Thr479=)not provided [RCV002966368]likely benign9712203712203Humanname
156321911CV2123874single nucleotide variantNM_015158.5(KANK1):c.287A>G (p.Asn96Ser)not provided [RCV002963264]|not specified [RCV004065074]uncertain significance9711053711053Humanname
155906339CV2130797single nucleotide variantNM_015158.5(KANK1):c.2163A>G (p.Glu721=)KANK1-related disorder [RCV004545465]|not provided [RCV002967734]likely benign9712929712929Human1name , trait , alternate_id
156097019CV2135823single nucleotide variantNM_015158.5(KANK1):c.1371G>A (p.Leu457=)not provided [RCV002979832]likely benign9712137712137Humanname
155956907CV2140236single nucleotide variantNM_015158.5(KANK1):c.197G>A (p.Arg66Lys)not provided [RCV002994945]uncertain significance9710963710963Humanname
156110858CV2146067single nucleotide variantNM_015158.5(KANK1):c.265A>G (p.Thr89Ala)not provided [RCV003021405]uncertain significance9711031711031Humanname
156020897CV2174184single nucleotide variantNM_015158.5(KANK1):c.1182G>A (p.Glu394=)not provided [RCV003035725]likely benign9711948711948Humanname
156280025CV2186794single nucleotide variantNM_015158.5(KANK1):c.2598C>T (p.Leu866=)not provided [RCV003044749]likely benign9713364713364Humanname
156267726CV2189328single nucleotide variantNM_015158.5(KANK1):c.205C>T (p.Pro69Ser)not provided [RCV003044341]uncertain significance9710971710971Humanname
156388071CV2383581single nucleotide variantNM_015158.5(KANK1):c.290G>C (p.Ser97Thr)not provided [RCV005099089]|not specified [RCV004224450]uncertain significance9711056711056Humanname
401875410CV2749933single nucleotide variantNM_015158.5(KANK1):c.271T>A (p.Ser91Thr)Cerebral palsy, spastic quadriplegic, 2 [RCV003333340]uncertain significance9711037711037Human1name
405076468CV2869512single nucleotide variantNM_015158.5(KANK1):c.211G>A (p.Val71Met)not provided [RCV003548842]|not specified [RCV004369099]uncertain significance9710977710977Humanname
402495499CV2883777single nucleotide variantNM_015158.5(KANK1):c.1782T>C (p.Ser594=)not provided [RCV003573456]likely benign9712548712548Humanname
405187651CV2917727single nucleotide variantNM_015158.5(KANK1):c.1851G>A (p.Lys617=)not provided [RCV003564584]likely benign9712617712617Humanname
405087538CV2943314single nucleotide variantNM_015158.5(KANK1):c.2376C>G (p.Ala792=)not provided [RCV003665054]likely benign9713142713142Humanname
405143390CV2946000single nucleotide variantNM_015158.5(KANK1):c.144T>G (p.Tyr48Ter)not provided [RCV003669464]uncertain significance9710910710910Humanname
405170150CV2951236single nucleotide variantNM_015158.5(KANK1):c.1413C>T (p.Arg471=)not provided [RCV003675353]likely benign9712179712179Humanname
405138404CV2954414single nucleotide variantNM_015158.5(KANK1):c.1260G>A (p.Arg420=)not provided [RCV003672928]likely benign9712026712026Humanname
402492613CV2981280single nucleotide variantNM_015158.5(KANK1):c.206C>G (p.Pro69Arg)not provided [RCV003713924]uncertain significance9710972710972Humanname
402489548CV2984500single nucleotide variantNM_015158.5(KANK1):c.2241G>A (p.Gly747=)not provided [RCV003713640]likely benign9713007713007Humanname
405204512CV2986310single nucleotide variantNM_015158.5(KANK1):c.1842A>C (p.Thr614=)not provided [RCV003678516]likely benign9712608712608Humanname
405184359CV3040224single nucleotide variantNM_015158.5(KANK1):c.2640A>G (p.Ala880=)not provided [RCV003705869]likely benign9713406713406Humanname
405093555CV3045590single nucleotide variantNM_015158.5(KANK1):c.2970A>C (p.Ala990=)not provided [RCV003717995]likely benign9731231731231Humanname
405140045CV3045895single nucleotide variantNM_015158.5(KANK1):c.1119C>T (p.Asp373=)not provided [RCV003725567]likely benign9711885711885Humanname
405158912CV3061639single nucleotide variantNM_015158.5(KANK1):c.1353T>C (p.Ala451=)not provided [RCV003726955]benign9712119712119Humanname
405041954CV3064088single nucleotide variantNM_015158.5(KANK1):c.2967C>T (p.Gly989=)not provided [RCV003739966]likely benign9731228731228Humanname
405156173CV3064930single nucleotide variantNM_015158.5(KANK1):c.2220G>T (p.Thr740=)not provided [RCV003726767]likely benign9712986712986Humanname
405141288CV3131147single nucleotide variantNM_015158.5(KANK1):c.103A>G (p.Thr35Ala)not provided [RCV003839187]|not specified [RCV004927958]likely benign|uncertain significance9710869710869Humanname
405141414CV3131175single nucleotide variantNM_015158.5(KANK1):c.191A>G (p.Gln64Arg)not provided [RCV003839215]uncertain significance9710957710957Humanname
405125974CV3132745single nucleotide variantNM_015158.5(KANK1):c.2166C>T (p.Gly722=)not provided [RCV003837908]likely benign9712932712932Humanname
405112487CV3133610single nucleotide variantNM_015158.5(KANK1):c.2406C>T (p.Asp802=)not provided [RCV003836403]likely benign9713172713172Humanname
405230821CV3153942single nucleotide variantNM_015158.5(KANK1):c.2199G>A (p.Thr733=)not provided [RCV003848810]likely benign9712965712965Humanname
405245476CV3161839single nucleotide variantNM_015158.5(KANK1):c.140A>G (p.Lys47Arg)not provided [RCV003868552]uncertain significance9710906710906Humanname
405234195CV3168374single nucleotide variantNM_015158.5(KANK1):c.2547A>G (p.Ala849=)not provided [RCV003865848]likely benign9713313713313Humanname
402471302CV3171534single nucleotide variantNM_015158.5(KANK1):c.1800C>T (p.Cys600=)not provided [RCV003874318]likely benign9712566712566Humanname
405241853CV3173196single nucleotide variantNM_015158.5(KANK1):c.1317C>T (p.Ser439=)not provided [RCV003867481]likely benign9712083712083Humanname
402504786CV3181497single nucleotide variantNM_015158.5(KANK1):c.1152C>T (p.Ser384=)not provided [RCV003878331]likely benign9711918711918Humanname
405280056CV3200290single nucleotide variantNM_015158.5(KANK1):c.1794C>T (p.Ser598=)KANK1-related disorder [RCV004542505]likely benign9712560712560Humanname , trait , alternate_id
405268509CV3201052single nucleotide variantNM_015158.5(KANK1):c.2322C>T (p.Leu774=)KANK1-related disorder [RCV004531834]likely benign9713088713088Humanname , trait , alternate_id
405801580CV3271802single nucleotide variantNM_015158.5(KANK1):c.266C>A (p.Thr89Asn)not specified [RCV004403500]uncertain significance9711032711032Humanname
407426167CV3409755single nucleotide variantNM_015158.5(KANK1):c.1170A>G (p.Ser390=)not provided [RCV004585687]likely benign9711936711936Humanname
408371208CV3504983single nucleotide variantNM_015158.5(KANK1):c.266C>G (p.Thr89Ser)KANK1-related disorder [RCV004724570]uncertain significance9711032711032Humanname , trait , alternate_id
408375910CV3506693single nucleotide variantNM_015158.5(KANK1):c.2211T>C (p.Gly737=)KANK1-related disorder [RCV004726451]likely benign9712977712977Humanname , trait , alternate_id
12849491CV364228single nucleotide variantNM_015158.5(KANK1):c.149A>T (p.Asp50Val)Amyotrophic lateral sclerosis [RCV003105894]|not provided [RCV000430887]|not specified [RCV000598207]benign|likely benign|uncertain significance9710915710915Human2name
597864765CV3742233single nucleotide variantNM_015158.5(KANK1):c.1287A>G (p.Thr429=)not provided [RCV005067849]likely benign9712053712053Humanname
597852413CV3743394single nucleotide variantNM_015158.5(KANK1):c.1920C>T (p.Cys640=)not provided [RCV005060744]likely benign9712686712686Humanname
597975793CV3795928single nucleotide variantNM_015158.5(KANK1):c.221C>G (p.Pro74Arg)not provided [RCV005144759]uncertain significance9710987710987Humanname
597955467CV3796177single nucleotide variantNM_015158.5(KANK1):c.1617G>C (p.Gly539=)not provided [RCV005136994]likely benign9712383712383Humanname
597970223CV3801903single nucleotide variantNM_015158.5(KANK1):c.2883C>T (p.Ala961=)not provided [RCV005141695]likely benign9730235730235Humanname
597878688CV3813720single nucleotide variantNM_015158.5(KANK1):c.1395G>A (p.Leu465=)not provided [RCV005149462]likely benign9712161712161Humanname
597973105CV3820097single nucleotide variantNM_015158.5(KANK1):c.211G>T (p.Val71Leu)not provided [RCV005167811]uncertain significance9710977710977Humanname
597846749CV3828021single nucleotide variantNM_015158.5(KANK1):c.1419A>G (p.Glu473=)not provided [RCV005173096]likely benign9712185712185Humanname
597923899CV3839954single nucleotide variantNM_015158.5(KANK1):c.1785G>C (p.Val595=)not provided [RCV005184693]likely benign9712551712551Humanname
597942176CV3847199single nucleotide variantNM_015158.5(KANK1):c.1965T>C (p.Val655=)not provided [RCV005188119]likely benign9712731712731Humanname
597871433CV3849322single nucleotide variantNM_015158.5(KANK1):c.2928C>T (p.Ser976=)not provided [RCV005197503]likely benign9731189731189Humanname
597872794CV3849558single nucleotide variantNM_015158.5(KANK1):c.2253A>G (p.Pro751=)not provided [RCV005197739]likely benign9713019713019Humanname
598128417CV3887621single nucleotide variantNM_015158.5(KANK1):c.1581C>T (p.Val527=)not provided [RCV005243794]likely benign9712347712347Humanname
598127027CV3887965single nucleotide variantNM_015158.5(KANK1):c.2793C>G (p.Thr931=)not provided [RCV005242651]likely benign9730145730145Humanname
13611402CV514597duplicationNM_015158.5(KANK1):c.876dup (p.Val293fs)not provided [RCV000627490]uncertain significance9711641711642Humanname
13706431CV537531single nucleotide variantNM_015158.5(KANK1):c.260C>A (p.Thr87Asn)not provided [RCV000659113]uncertain significance9711026711026Humanname
13831401CV583105single nucleotide variantNM_015158.5(KANK1):c.130G>T (p.Asp44Tyr)Cerebral palsy, spastic quadriplegic, 2 [RCV000723309]uncertain significance9710896710896Human1name
15104424CV701043single nucleotide variantNM_015158.5(KANK1):c.2556C>T (p.Phe852=)Cerebral palsy, spastic quadriplegic, 2 [RCV002489343]|not provided [RCV000959683]likely benign9713322713322Human1name
15127535CV712007single nucleotide variantNM_015158.5(KANK1):c.1533T>C (p.Val511=)Cerebral palsy, spastic quadriplegic, 2 [RCV002503015]|KANK1-related disorder [RCV004535933]|not provided [RCV000963921]likely benign9712299712299Human1name , trait , alternate_id
15140830CV712008single nucleotide variantNM_015158.5(KANK1):c.2202G>T (p.Arg734=)Cerebral palsy, spastic quadriplegic, 2 [RCV002479122]|KANK1-related disorder [RCV004535943]|not provided [RCV000966208]likely benign9712968712968Human1name , trait , alternate_id
15169476CV723609single nucleotide variantNM_015158.5(KANK1):c.206C>T (p.Pro69Leu)not provided [RCV000883274]|not specified [RCV001729731]benign|likely benign9710972710972Humanname
15151588CV723612single nucleotide variantNM_015158.5(KANK1):c.1377G>A (p.Gln459=)Cerebral palsy, spastic quadriplegic, 2 [RCV002501365]|not provided [RCV000879627]benign|likely benign9712143712143Human1name
15098870CV723613single nucleotide variantNM_015158.5(KANK1):c.1491G>A (p.Ser497=)Cerebral palsy, spastic quadriplegic, 2 [RCV002495396]|not provided [RCV000891833]likely benign9712257712257Human1name
15200978CV723616single nucleotide variantNM_015158.5(KANK1):c.2544G>C (p.Leu848=)Cerebral palsy, spastic quadriplegic, 2 [RCV002495393]|KANK1-related disorder [RCV004530966]|not provided [RCV000891062]likely benign9713310713310Human1name , trait , alternate_id
15175799CV723619single nucleotide variantNM_015158.5(KANK1):c.2847G>A (p.Thr949=)Cerebral palsy, spastic quadriplegic, 2 [RCV002501408]|not provided [RCV000884449]likely benign9730199730199Human1name
15137651CV751752single nucleotide variantNM_015158.5(KANK1):c.1011G>A (p.Arg337=)Cerebral palsy, spastic quadriplegic, 2 [RCV002505365]|not provided [RCV000921207]likely benign9711777711777Human1name
15165340CV751754single nucleotide variantNM_015158.5(KANK1):c.2091C>T (p.Asn697=)Cerebral palsy, spastic quadriplegic, 2 [RCV002479075]|KANK1-related disorder [RCV004543480]|not provided [RCV000926599]likely benign9712857712857Human1name , trait , alternate_id
15193627CV767464single nucleotide variantNM_015158.5(KANK1):c.1608G>A (p.Thr536=)not provided [RCV000933415]likely benign9712374712374Humanname
15172324CV767465single nucleotide variantNM_015158.5(KANK1):c.2064G>A (p.Thr688=)Cerebral palsy, spastic quadriplegic, 2 [RCV002495569]|not provided [RCV000928090]likely benign9712830712830Human1name
15187827CV767467single nucleotide variantNM_015158.5(KANK1):c.2268C>T (p.Thr756=)not provided [RCV000931772]likely benign9713034713034Humanname
15190990CV767468single nucleotide variantNM_015158.5(KANK1):c.2373A>C (p.Thr791=)not provided [RCV000932675]likely benign9713139713139Humanname
15191892CV767469single nucleotide variantNM_015158.5(KANK1):c.2646T>G (p.Thr882=)Cerebral palsy, spastic quadriplegic, 2 [RCV002502854]|not provided [RCV000932928]benign|likely benign9713412713412Human1name
15133096CV783437single nucleotide variantNM_015158.5(KANK1):c.1263C>T (p.Ser421=)not provided [RCV000981498]likely benign9712029712029Humanname
38467951CV920811single nucleotide variantNM_015158.5(KANK1):c.2367G>A (p.Gly789=)not provided [RCV001200493]likely benign9713133713133Humanname
127311116CV1156243single nucleotide variantNM_015158.5(KANK1):c.630C>G (p.His210Gln)not provided [RCV001518500]benign9711396711396Humanname
127301050CV1156256single nucleotide variantNM_015158.5(KANK1):c.3483C>T (p.Asn1161=)not provided [RCV001514493]benign9738434738434Humanname
127311137CV1156257single nucleotide variantNM_015158.5(KANK1):c.3663C>T (p.Phe1221=)not provided [RCV001518503]benign9740901740901Humanname
127320263CV1156258single nucleotide variantNM_015158.5(KANK1):c.3834A>G (p.Gly1278=)not provided [RCV001522546]benign9742342742342Humanname
150520808CV1289916single nucleotide variantNM_015158.5(KANK1):c.3996G>A (p.Pro1332=)Cerebral palsy, spastic quadriplegic, 2 [RCV002488489]|not provided [RCV001730292]|not specified [RCV004040019]uncertain significance9744589744589Human1name
151866403CV1342115single nucleotide variantNM_015158.5(KANK1):c.975T>A (p.Ser325Arg)not provided [RCV001997783]uncertain significance9711741711741Humanname
151749986CV1358994single nucleotide variantNM_015158.5(KANK1):c.3486C>T (p.Gly1162=)Cerebral palsy, spastic quadriplegic, 2 [RCV002484851]|not provided [RCV001969092]likely benign|uncertain significance9738437738437Human1name
151830339CV1377771single nucleotide variantNM_015158.5(KANK1):c.980G>C (p.Gly327Ala)not provided [RCV002014251]uncertain significance9711746711746Humanname
151874624CV1388202single nucleotide variantNM_015158.5(KANK1):c.516G>T (p.Met172Ile)not provided [RCV001981743]uncertain significance9711282711282Humanname
151742074CV1390809single nucleotide variantNM_015158.5(KANK1):c.683C>G (p.Ala228Gly)Cerebral palsy, spastic quadriplegic, 2 [RCV002497841]|not provided [RCV001985334]uncertain significance9711449711449Human1name
151711789CV1396567single nucleotide variantNM_015158.5(KANK1):c.560T>A (p.Phe187Tyr)not provided [RCV001889539]uncertain significance9711326711326Humanname
151743768CV1404541single nucleotide variantNM_015158.5(KANK1):c.790C>T (p.Arg264Cys)not provided [RCV002022589]|not specified [RCV004927791]uncertain significance9711556711556Humanname
151731307CV1420754single nucleotide variantNM_015158.5(KANK1):c.325G>A (p.Ala109Thr)not provided [RCV002021324]|not specified [RCV004631933]uncertain significance9711091711091Humanname
151888049CV1434028single nucleotide variantNM_015158.5(KANK1):c.674A>G (p.Tyr225Cys)not provided [RCV002038318]uncertain significance9711440711440Humanname
151800828CV1442210single nucleotide variantNM_015158.5(KANK1):c.335A>C (p.Gln112Pro)Cerebral palsy, spastic quadriplegic, 2 [RCV002492359]|not provided [RCV002011553]|not specified [RCV004927793]uncertain significance9711101711101Human1name
151767995CV1445316single nucleotide variantNM_015158.5(KANK1):c.873C>G (p.Ile291Met)not provided [RCV002025085]uncertain significance9711639711639Humanname
151756056CV1449311single nucleotide variantNM_015158.5(KANK1):c.433C>T (p.Pro145Ser)Cerebral palsy, spastic quadriplegic, 2 [RCV002492286]|not provided [RCV001986759]|not specified [RCV004045422]uncertain significance9711199711199Human1name
151746581CV1462243single nucleotide variantNM_015158.5(KANK1):c.424C>T (p.Pro142Ser)not provided [RCV001968709]uncertain significance9711190711190Humanname
151886897CV1464362single nucleotide variantNM_015158.5(KANK1):c.3879C>T (p.Asn1293=)not provided [RCV001942271]likely benign9742387742387Humanname
151836653CV1469242single nucleotide variantNM_015158.5(KANK1):c.3897C>T (p.Asn1299=)not provided [RCV002051284]uncertain significance9742405742405Humanname
151716564CV1470665single nucleotide variantNM_015158.5(KANK1):c.3552C>T (p.Ala1184=)Cerebral palsy, spastic quadriplegic, 2 [RCV002482799]|KANK1-related disorder [RCV004542168]|not provided [RCV001909057]likely benign|uncertain significance9738503738503Human1name , trait , alternate_id
151842269CV1473535single nucleotide variantNM_015158.5(KANK1):c.298A>G (p.Asn100Asp)not provided [RCV002031961]uncertain significance9711064711064Humanname
151887014CV1496025single nucleotide variantNM_015158.5(KANK1):c.793G>A (p.Glu265Lys)not provided [RCV001887681]|not specified [RCV004038977]uncertain significance9711559711559Humanname
151787458CV1504699single nucleotide variantNM_015158.5(KANK1):c.917A>G (p.Lys306Arg)not provided [RCV001951702]uncertain significance9711683711683Humanname
151724887CV1515033single nucleotide variantNM_015158.5(KANK1):c.466A>G (p.Lys156Glu)Cerebral palsy, spastic quadriplegic, 2 [RCV002479693]|not provided [RCV001983558]|not specified [RCV004045309]uncertain significance9711232711232Human1name
151756919CV1517271single nucleotide variantNM_015158.5(KANK1):c.526C>T (p.Pro176Ser)not provided [RCV002043837]|not specified [RCV004046971]uncertain significance9711292711292Humanname
152131955CV1521851single nucleotide variantNM_015158.5(KANK1):c.857T>A (p.Val286Glu)Cerebral palsy, spastic quadriplegic, 2 [RCV002498179]|KANK1-related disorder [RCV004543719]|not provided [RCV002199443]likely benign9711623711623Human1name , trait , alternate_id
152030626CV1534308single nucleotide variantNM_015158.5(KANK1):c.3807G>A (p.Thr1269=)Cerebral palsy, spastic quadriplegic, 2 [RCV002486860]|KANK1-related disorder [RCV004531352]|not provided [RCV002086184]likely benign9742315742315Human1name , trait , alternate_id
152055369CV1582109single nucleotide variantNM_015158.5(KANK1):c.3243G>A (p.Glu1081=)not provided [RCV002089641]likely benign9732615732615Humanname
152134259CV1609206single nucleotide variantNM_015158.5(KANK1):c.3177G>A (p.Lys1059=)not provided [RCV002177214]likely benign9732549732549Humanname
152096534CV1623320single nucleotide variantNM_015158.5(KANK1):c.3618C>T (p.Ala1206=)Cerebral palsy, spastic quadriplegic, 2 [RCV002498248]|not provided [RCV002213434]benign|likely benign9740856740856Human1name
152141640CV1625334single nucleotide variantNM_015158.5(KANK1):c.3057C>T (p.Ser1019=)Cerebral palsy, spastic quadriplegic, 2 [RCV002494136]|not provided [RCV002219452]likely benign9732429732429Human1name
152081312CV1641338single nucleotide variantNM_015158.5(KANK1):c.3444A>T (p.Pro1148=)not provided [RCV002211457]likely benign9738395738395Humanname
152167463CV1644693single nucleotide variantNM_015158.5(KANK1):c.3060G>A (p.Glu1020=)KANK1-related disorder [RCV004734451]|not provided [RCV002142168]likely benign9732432732432Human1name , trait , alternate_id
152142350CV1654250single nucleotide variantNM_015158.5(KANK1):c.3855G>A (p.Leu1285=)not provided [RCV002200740]likely benign9742363742363Humanname
152103672CV1667495single nucleotide variantNM_015158.5(KANK1):c.817C>T (p.Arg273Cys)not provided [RCV002214483]likely benign9711583711583Humanname
152103678CV1667497single nucleotide variantNM_015158.5(KANK1):c.3744C>T (p.Asp1248=)Cerebral palsy, spastic quadriplegic, 2 [RCV002496149]|not provided [RCV002214485]likely benign9742252742252Human1name
155700966CV1771127single nucleotide variantNM_015158.5(KANK1):c.556A>G (p.Ser186Gly)not provided [RCV002295626]uncertain significance9711322711322Humanname
156092442CV1909858single nucleotide variantNM_015158.5(KANK1):c.3570T>C (p.Asp1190=)KANK1-related disorder [RCV004538809]|not provided [RCV002591960]likely benign9740808740808Human1name , trait , alternate_id
156025890CV1917633single nucleotide variantNM_015158.5(KANK1):c.3699G>A (p.Ala1233=)not provided [RCV002619628]likely benign9742207742207Humanname
155932683CV1919707single nucleotide variantNM_015158.5(KANK1):c.3825C>T (p.Ser1275=)KANK1-related disorder [RCV004540566]|not provided [RCV002615092]benign|likely benign9742333742333Human1name , trait , alternate_id
156054557CV1935067single nucleotide variantNM_015158.5(KANK1):c.356C>G (p.Ser119Ter)not specified [RCV002510354]uncertain significance9711122711122Humanname
156444848CV1948892single nucleotide variantNM_015158.5(KANK1):c.3795C>T (p.Asp1265=)not provided [RCV003115778]likely benign9742303742303Humanname
156354677CV1962293single nucleotide variantNM_015158.5(KANK1):c.323T>G (p.Ile108Arg)not provided [RCV002581307]uncertain significance9711089711089Humanname
156250489CV1967191single nucleotide variantNM_015158.5(KANK1):c.3708G>A (p.Thr1236=)not provided [RCV002597453]likely benign9742216742216Humanname
156352202CV1978537single nucleotide variantNM_015158.5(KANK1):c.313A>G (p.Asn105Asp)not provided [RCV002601906]uncertain significance9711079711079Humanname
156088647CV1983913single nucleotide variantNM_015158.5(KANK1):c.800T>C (p.Met267Thr)not provided [RCV002621783]|not specified [RCV004617067]uncertain significance9711566711566Humanname
156089939CV1983997single nucleotide variantNM_015158.5(KANK1):c.612C>G (p.Asn204Lys)not provided [RCV002621824]uncertain significance9711378711378Humanname
156390761CV1990102single nucleotide variantNM_015158.5(KANK1):c.704T>C (p.Met235Thr)not provided [RCV002604647]|not specified [RCV005350973]likely benign|uncertain significance9711470711470Humanname
156391154CV1990143single nucleotide variantNM_015158.5(KANK1):c.545C>A (p.Pro182His)not provided [RCV002604679]uncertain significance9711311711311Humanname
156100916CV2001075single nucleotide variantNM_015158.5(KANK1):c.3172T>C (p.Leu1058=)not provided [RCV002639579]likely benign9732544732544Humanname
156292245CV2009791single nucleotide variantNM_015158.5(KANK1):c.677C>T (p.Ala226Val)not provided [RCV002715703]uncertain significance9711443711443Humanname
156132153CV2022785single nucleotide variantNM_015158.5(KANK1):c.3672G>A (p.Gly1224=)not provided [RCV002740605]likely benign9740910740910Humanname
156011193CV2043075single nucleotide variantNM_015158.5(KANK1):c.3906C>T (p.Ser1302=)not provided [RCV002756694]likely benign9744499744499Humanname
155901204CV2043585single nucleotide variantNM_015158.5(KANK1):c.3123A>G (p.Glu1041=)KANK1-related disorder [RCV004545394]|not provided [RCV002770981]likely benign9732495732495Human1name , trait , alternate_id
156153102CV2049178single nucleotide variantNM_015158.5(KANK1):c.646T>C (p.Tyr216His)not provided [RCV002801357]uncertain significance9711412711412Humanname
156262759CV2053838single nucleotide variantNM_015158.5(KANK1):c.452A>C (p.Asn151Thr)not provided [RCV002792073]uncertain significance9711218711218Humanname
155940969CV2110728single nucleotide variantNM_015158.5(KANK1):c.977C>T (p.Ala326Val)not provided [RCV002904469]uncertain significance9711743711743Humanname
156309497CV2111193single nucleotide variantNM_015158.5(KANK1):c.983A>G (p.Asn328Ser)not provided [RCV002937082]uncertain significance9711749711749Humanname
156025563CV2112463single nucleotide variantNM_015158.5(KANK1):c.3240A>G (p.Arg1080=)not provided [RCV002909819]benign9732612732612Humanname
156104266CV2113531single nucleotide variantNM_015158.5(KANK1):c.3828G>A (p.Glu1276=)not provided [RCV002952854]likely benign9742336742336Humanname
156002409CV2119084single nucleotide variantNM_015158.5(KANK1):c.454C>A (p.Leu152Ile)not provided [RCV002975247]uncertain significance9711220711220Humanname
156392811CV2123638single nucleotide variantNM_015158.5(KANK1):c.380C>T (p.Thr127Ile)not provided [RCV002944086]|not specified [RCV004068343]uncertain significance9711146711146Humanname
155947905CV2151006single nucleotide variantNM_015158.5(KANK1):c.977C>G (p.Ala326Gly)not provided [RCV003014680]uncertain significance9711743711743Humanname
156136387CV2181559single nucleotide variantNM_015158.5(KANK1):c.323T>C (p.Ile108Thr)not provided [RCV003039881]uncertain significance9711089711089Humanname
156116470CV2209086single nucleotide variantNM_015158.5(KANK1):c.824A>G (p.Lys275Arg)not specified [RCV004093318]uncertain significance9711590711590Humanname
156296762CV2240782single nucleotide variantNM_015158.5(KANK1):c.627G>C (p.Lys209Asn)not specified [RCV004102083]uncertain significance9711393711393Humanname
156285851CV2292028single nucleotide variantNM_015158.5(KANK1):c.413G>A (p.Arg138Gln)not specified [RCV004160311]likely benign9711179711179Humanname
156200826CV2362980single nucleotide variantNM_015158.5(KANK1):c.984C>A (p.Asn328Lys)KANK1-related disorder [RCV004736297]|not provided [RCV003778547]|not specified [RCV004211124]uncertain significance9711750711750Human1name , trait , alternate_id
155956676CV2387333single nucleotide variantNM_015158.5(KANK1):c.427C>T (p.Pro143Ser)not specified [RCV004238417]uncertain significance9711193711193Humanname
329355784CV2430486single nucleotide variantNM_015158.5(KANK1):c.705G>A (p.Met235Ile)not specified [RCV004252072]uncertain significance9711471711471Humanname
329401262CV2442260single nucleotide variantNM_015158.5(KANK1):c.580A>G (p.Ser194Gly)not specified [RCV004264745]uncertain significance9711346711346Humanname
329374049CV2452806single nucleotide variantNM_015158.5(KANK1):c.717C>G (p.Ile239Met)not specified [RCV004275338]uncertain significance9711483711483Humanname
329396977CV2463726single nucleotide variantNM_015158.5(KANK1):c.815A>C (p.Lys272Thr)not specified [RCV004279292]uncertain significance9711581711581Humanname
402493758CV2874250single nucleotide variantNM_015158.5(KANK1):c.3723G>A (p.Ala1241=)not provided [RCV003545181]likely benign9742231742231Humanname
405223757CV2887597single nucleotide variantNM_015158.5(KANK1):c.470C>G (p.Thr157Arg)not provided [RCV003554316]uncertain significance9711236711236Humanname
405223101CV2891241single nucleotide variantNM_015158.5(KANK1):c.638A>G (p.Gln213Arg)KANK1-related disorder [RCV004536852]|not provided [RCV003554223]uncertain significance9711404711404Human1name , trait , alternate_id
402523358CV2900276single nucleotide variantNM_015158.5(KANK1):c.458A>G (p.His153Arg)not provided [RCV003576027]uncertain significance9711224711224Humanname
402503130CV2937733single nucleotide variantNM_015158.5(KANK1):c.3759T>C (p.Leu1253=)not provided [RCV003661791]likely benign9742267742267Humanname
405074639CV2940571single nucleotide variantNM_015158.5(KANK1):c.935C>T (p.Ser312Phe)not provided [RCV003659566]uncertain significance9711701711701Humanname
405130599CV2953700single nucleotide variantNM_015158.5(KANK1):c.607G>A (p.Gly203Arg)not provided [RCV003672373]|not specified [RCV004634305]uncertain significance9711373711373Humanname
405121199CV2957669single nucleotide variantNM_015158.5(KANK1):c.302A>G (p.Lys101Arg)not provided [RCV003667370]uncertain significance9711068711068Humanname
405235579CV2976595single nucleotide variantNM_015158.5(KANK1):c.939G>C (p.Gln313His)not provided [RCV003683022]uncertain significance9711705711705Humanname
405239370CV2979715single nucleotide variantNM_015158.5(KANK1):c.623C>G (p.Ala208Gly)not provided [RCV003683705]uncertain significance9711389711389Humanname
405077751CV3004367single nucleotide variantNM_015158.5(KANK1):c.3690T>G (p.Ala1230=)not provided [RCV003716895]likely benign9740928740928Humanname
405208409CV3037182single nucleotide variantNM_015158.5(KANK1):c.3681T>C (p.Asn1227=)not provided [RCV003708311]likely benign9740919740919Humanname
405221657CV3038603single nucleotide variantNM_015158.5(KANK1):c.551T>C (p.Leu184Pro)not provided [RCV003710064]uncertain significance9711317711317Humanname
405204797CV3068015single nucleotide variantNM_015158.5(KANK1):c.685G>A (p.Ala229Thr)not provided [RCV003731196]uncertain significance9711451711451Humanname
405189646CV3069701single nucleotide variantNM_015158.5(KANK1):c.758C>G (p.Thr253Ser)not provided [RCV003729601]uncertain significance9711524711524Humanname
405243521CV3071907single nucleotide variantNM_015158.5(KANK1):c.566G>A (p.Gly189Asp)not provided [RCV003737819]uncertain significance9711332711332Humanname
405214535CV3078342single nucleotide variantNM_015158.5(KANK1):c.985G>A (p.Ala329Thr)not provided [RCV003732379]uncertain significance9711751711751Humanname
405189549CV3117957single nucleotide variantNM_015158.5(KANK1):c.506G>C (p.Arg169Thr)not provided [RCV003820867]uncertain significance9711272711272Humanname
405187514CV3121215single nucleotide variantNM_015158.5(KANK1):c.3771G>C (p.Gly1257=)not provided [RCV003820671]likely benign9742279742279Humanname
405192174CV3145998single nucleotide variantNM_015158.5(KANK1):c.745T>C (p.Ser249Pro)not provided [RCV003843545]uncertain significance9711511711511Humanname
405059127CV3147908single nucleotide variantNM_015158.5(KANK1):c.364C>A (p.Pro122Thr)not provided [RCV003850138]uncertain significance9711130711130Humanname
405061544CV3148303single nucleotide variantNM_015158.5(KANK1):c.3648T>C (p.Ile1216=)not provided [RCV003850259]likely benign9740886740886Humanname
405238310CV3166962single nucleotide variantNM_015158.5(KANK1):c.3096T>C (p.Leu1032=)not provided [RCV003854217]likely benign9732468732468Humanname
405288972CV3204894single nucleotide variantNM_015158.5(KANK1):c.3507C>T (p.Ser1169=)KANK1-related disorder [RCV004544113]likely benign9738458738458Humanname , trait , alternate_id
405290564CV3207512single nucleotide variantNM_015158.5(KANK1):c.3567G>C (p.Val1189=)KANK1-related disorder [RCV004532037]likely benign9740805740805Humanname , trait , alternate_id
405698949CV3227050single nucleotide variantNM_015158.5(KANK1):c.386T>C (p.Leu129Pro)not provided [RCV003993444]uncertain significance9711152711152Humanname
405801600CV3271811single nucleotide variantNM_015158.5(KANK1):c.715A>C (p.Ile239Leu)not specified [RCV004403509]uncertain significance9711481711481Humanname
405801604CV3271813single nucleotide variantNM_015158.5(KANK1):c.773T>C (p.Met258Thr)not specified [RCV004403511]uncertain significance9711539711539Humanname
407467293CV3448228single nucleotide variantNM_015158.5(KANK1):c.470C>T (p.Thr157Ile)KANK1-related disorder [RCV004736446]|not specified [RCV004635856]uncertain significance9711236711236Human1name , trait , alternate_id
407467325CV3448235single nucleotide variantNM_015158.5(KANK1):c.544C>T (p.Pro182Ser)not specified [RCV004635863]uncertain significance9711310711310Humanname
408368520CV3513175single nucleotide variantNM_015158.5(KANK1):c.3228G>A (p.Lys1076=)KANK1-related disorder [RCV004735260]likely benign9732600732600Humanname , trait , alternate_id
597778162CV3691585single nucleotide variantNM_015158.5(KANK1):c.764T>G (p.Val255Gly)not specified [RCV004930064]uncertain significance9711530711530Humanname
597778166CV3691586single nucleotide variantNM_015158.5(KANK1):c.710G>A (p.Ser237Asn)not specified [RCV004930065]uncertain significance9711476711476Humanname
597778195CV3691593single nucleotide variantNM_015158.5(KANK1):c.370C>G (p.Pro124Ala)not specified [RCV004930072]likely benign9711136711136Humanname
597778202CV3691595single nucleotide variantNM_015158.5(KANK1):c.643G>A (p.Gly215Arg)not specified [RCV004930074]uncertain significance9711409711409Humanname
597918241CV3737811single nucleotide variantNM_015158.5(KANK1):c.676G>A (p.Ala226Thr)not provided [RCV005074410]uncertain significance9711442711442Humanname
597918613CV3737858single nucleotide variantNM_015158.5(KANK1):c.3270G>A (p.Leu1090=)not provided [RCV005074457]likely benign9734772734772Humanname
597831248CV3739956single nucleotide variantNM_015158.5(KANK1):c.805A>G (p.Ile269Val)not provided [RCV005062654]uncertain significance9711571711571Humanname
597832241CV3740149single nucleotide variantNM_015158.5(KANK1):c.818G>A (p.Arg273His)not provided [RCV005062848]uncertain significance9711584711584Humanname
597830324CV3742990single nucleotide variantNM_015158.5(KANK1):c.3360C>T (p.His1120=)not provided [RCV005061998]likely benign9738311738311Humanname
597958500CV3751876single nucleotide variantNM_015158.5(KANK1):c.3837C>T (p.His1279=)not provided [RCV005081005]likely benign9742345742345Humanname
597954730CV3754109single nucleotide variantNM_015158.5(KANK1):c.961A>C (p.Lys321Gln)not provided [RCV005080152]uncertain significance9711727711727Humanname
597950078CV3759318single nucleotide variantNM_015158.5(KANK1):c.3441C>T (p.Ser1147=)not provided [RCV005079115]likely benign9738392738392Humanname
597961172CV3794841single nucleotide variantNM_015158.5(KANK1):c.587T>C (p.Leu196Pro)not provided [RCV005138746]uncertain significance9711353711353Humanname
597953258CV3795497single nucleotide variantNM_015158.5(KANK1):c.965G>A (p.Arg322Gln)not provided [RCV005136507]uncertain significance9711731711731Humanname
597953949CV3795665single nucleotide variantNM_015158.5(KANK1):c.3276A>G (p.Ala1092=)not provided [RCV005136675]likely benign9734778734778Humanname
597871984CV3805231single nucleotide variantNM_015158.5(KANK1):c.3885C>T (p.His1295=)not provided [RCV005148509]likely benign9742393742393Humanname
597922229CV3808144single nucleotide variantNM_015158.5(KANK1):c.3006G>A (p.Gly1002=)not provided [RCV005155852]uncertain significance9732378732378Humanname
597932593CV3812757single nucleotide variantNM_015158.5(KANK1):c.311C>T (p.Pro104Leu)not provided [RCV005157289]uncertain significance9711077711077Humanname
597929705CV3826860single nucleotide variantNM_015158.5(KANK1):c.784C>T (p.His262Tyr)not provided [RCV005156873]uncertain significance9711550711550Humanname
597976003CV3829019single nucleotide variantNM_015158.5(KANK1):c.3978T>C (p.Phe1326=)not provided [RCV005169468]likely benign9744571744571Humanname
597832141CV3830917single nucleotide variantNM_015158.5(KANK1):c.783G>C (p.Gln261His)not provided [RCV005170315]uncertain significance9711549711549Humanname
597872621CV3849528single nucleotide variantNM_015158.5(KANK1):c.994C>A (p.Leu332Met)not provided [RCV005197709]uncertain significance9711760711760Humanname
597904197CV3856297single nucleotide variantNM_015158.5(KANK1):c.683C>T (p.Ala228Val)not provided [RCV005202525]uncertain significance9711449711449Humanname
598223645CV3894031single nucleotide variantNM_015158.5(KANK1):c.3615C>T (p.Leu1205=)not provided [RCV005257274]likely benign9740853740853Humanname
598258943CV3979880single nucleotide variantNM_015158.5(KANK1):c.377A>C (p.Glu126Ala)not specified [RCV005347313]likely benign9711143711143Humanname
598258949CV3979881single nucleotide variantNM_015158.5(KANK1):c.743T>G (p.Ile248Ser)not specified [RCV005347314]uncertain significance9711509711509Humanname
598212349CV3979885single nucleotide variantNM_015158.5(KANK1):c.845G>A (p.Arg282Gln)not specified [RCV005358814]likely benign9711611711611Humanname
598233916CV3979886single nucleotide variantNM_015158.5(KANK1):c.376G>C (p.Glu126Gln)not specified [RCV005363433]uncertain significance9711142711142Humanname
598212375CV3979891single nucleotide variantNM_015158.5(KANK1):c.617A>G (p.Asn206Ser)not specified [RCV005358817]likely benign9711383711383Humanname
598199571CV4007330single nucleotide variantNM_015158.5(KANK1):c.310C>G (p.Pro104Ala)Cerebral palsy, spastic quadriplegic, 2 [RCV005398158]uncertain significance9711076711076Human1name
13462514CV438804single nucleotide variantNM_015158.5(KANK1):c.633G>C (p.Gln211His)not provided [RCV000514287]likely benign9711399711399Humanname
13489556CV444510single nucleotide variantNM_015158.5(KANK1):c.385C>T (p.Leu129Phe)not provided [RCV000523927]uncertain significance9711151711151Humanname
13518147CV493710single nucleotide variantNM_015158.5(KANK1):c.972T>A (p.Tyr324Ter)Cerebral palsy, spastic quadriplegic, 2 [RCV002506441]|not provided [RCV000597072]uncertain significance9711738711738Human1name
13515906CV493715single nucleotide variantNM_015158.5(KANK1):c.565G>A (p.Gly189Ser)KANK1-related disorder [RCV004530720]|not provided [RCV000906302]|not specified [RCV000594868]likely benign9711331711331Human1name , trait , alternate_id
13831804CV582302deletionNM_015158.5(KANK1):c.1791del (p.Ser598fs)not provided [RCV000722487]uncertain significance9712557712557Humanname
13832419CV582913duplicationNM_015158.5(KANK1):c.1576dup (p.Met526fs)not provided [RCV000723107]uncertain significance9712339712340Humanname
15202966CV701045single nucleotide variantNM_015158.5(KANK1):c.3102A>G (p.Glu1034=)not provided [RCV000958136]likely benign9732474732474Humanname
15134233CV712005single nucleotide variantNM_015158.5(KANK1):c.346A>G (p.Thr116Ala)not provided [RCV000965091]benign|likely benign9711112711112Humanname
15127526CV712006single nucleotide variantNM_015158.5(KANK1):c.593C>T (p.Ser198Phe)not provided [RCV000963920]benign9711359711359Humanname
15157028CV712012single nucleotide variantNM_015158.5(KANK1):c.3372C>T (p.Arg1124=)not provided [RCV000969230]benign|likely benign9738323738323Humanname
15167103CV712013single nucleotide variantNM_015158.5(KANK1):c.3609G>A (p.Ala1203=)KANK1-related disorder [RCV004535961]|not provided [RCV000971328]benign|likely benign9740847740847Human1name , trait , alternate_id
15194363CV723620single nucleotide variantNM_015158.5(KANK1):c.3870C>T (p.Pro1290=)Cerebral palsy, spastic quadriplegic, 2 [RCV002495380]|not provided [RCV000889203]benign9742378742378Human1name
15196361CV723621single nucleotide variantNM_015158.5(KANK1):c.3912G>A (p.Ala1304=)Cerebral palsy, spastic quadriplegic, 2 [RCV002505268]|not provided [RCV000889755]benign|likely benign9744505744505Human1name
15132184CV737177single nucleotide variantNM_015158.5(KANK1):c.3354C>G (p.Leu1118=)not provided [RCV000897911]likely benign9738305738305Humanname
15188085CV737178single nucleotide variantNM_015158.5(KANK1):c.3477C>T (p.Asp1159=)not provided [RCV000909269]benign|likely benign9738428738428Humanname
15162064CV737179single nucleotide variantNM_015158.5(KANK1):c.4023G>A (p.Thr1341=)KANK1-related disorder [RCV004541902]|not provided [RCV000903476]likely benign9745199745199Human1name , trait , alternate_id
39456272CV966516single nucleotide variantNM_015158.5(KANK1):c.511A>G (p.Thr171Ala)Rare genetic intellectual disability [RCV001257026]|not provided [RCV003727959]uncertain significance9711277711277Humanname
126737942CV1017208single nucleotide variantNM_015158.5(KANK1):c.1086G>C (p.Gln362His)Cerebral palsy, spastic quadriplegic, 2 [RCV001328857]|not provided [RCV002546280]|not specified [RCV005369828]uncertain significance9711852711852Human1name
126741403CV1020653single nucleotide variantNM_015158.5(KANK1):c.2020A>G (p.Ser674Gly)Cerebral palsy, spastic quadriplegic, 2 [RCV001336248]|not specified [RCV004629581]uncertain significance9712786712786Human1name
126741410CV1020654single nucleotide variantNM_015158.5(KANK1):c.2683C>A (p.Leu895Met)Cerebral palsy, spastic quadriplegic, 2 [RCV001336249]|not provided [RCV002547352]uncertain significance9713449713449Human1name
126741414CV1020656deletionNM_015158.5(KANK1):c.3709del (p.Ala1237fs)Cerebral palsy, spastic quadriplegic, 2 [RCV001336250]|not provided [RCV003727986]uncertain significance9742216742216Human1name
126912684CV1037934single nucleotide variantNM_015158.5(KANK1):c.1173G>T (p.Glu391Asp)not provided [RCV001356721]uncertain significance9711939711939Humanname
126909967CV1037935single nucleotide variantNM_015158.5(KANK1):c.1901C>G (p.Ser634Cys)Cerebral palsy, spastic quadriplegic, 2 [RCV001354202]uncertain significance9712667712667Human1name
127301002CV1119833single nucleotide variantNM_015158.5(KANK1):c.1357A>G (p.Lys453Glu)KANK1-related disorder [RCV004533791]|not provided [RCV001461260]|not specified [RCV004038599]likely benign|uncertain significance9712123712123Human1name , trait , alternate_id
127302681CV1156244single nucleotide variantNM_015158.5(KANK1):c.1294G>C (p.Glu432Gln)not provided [RCV001515159]benign9712060712060Humanname
127316400CV1156247single nucleotide variantNM_015158.5(KANK1):c.1390T>G (p.Ser464Ala)not provided [RCV001520478]benign9712156712156Humanname
127301030CV1156250single nucleotide variantNM_015158.5(KANK1):c.2000G>A (p.Arg667His)not provided [RCV001514490]benign9712766712766Human3name
127301030CV1156250single nucleotide variantNM_015158.5(KANK1):c.2000G>A (p.Arg667His)not provided [RCV001514490]benign9712766712767Human3name
127311129CV1156252single nucleotide variantNM_015158.5(KANK1):c.2702A>G (p.Asn901Ser)not provided [RCV001518502]benign9730054730054Humanname
150410938CV1196043single nucleotide variantNM_015158.5(KANK1):c.2686G>C (p.Gly896Arg)not provided [RCV001573393]|not specified [RCV004039411]likely benign|conflicting interpretations of pathogenicity|uncertain significance9713452713452Humanname
150509116CV1229810insertionNM_015158.5(KANK1):c.2699-270_2699-269insGnot provided [RCV001636389]benign9729781729782Humanname
150532076CV1292001single nucleotide variantNM_015158.5(KANK1):c.2615C>G (p.Ser872Cys)KANK1-related disorder [RCV004542099]|not provided [RCV002077180]|not specified [RCV001733667]likely benign9713381713381Human1name , trait , alternate_id
151350863CV1325792duplicationNM_015158.5(KANK1):c.3213dup (p.Cys1072fs)Cerebral palsy, spastic quadriplegic, 2 [RCV002478046]|not specified [RCV001815138]uncertain significance9732583732584Human1name
151777613CV1336998single nucleotide variantNM_015158.5(KANK1):c.2198C>T (p.Thr733Met)not provided [RCV002025953]uncertain significance9712964712964Humanname
151883480CV1337918single nucleotide variantNM_015158.5(KANK1):c.2657G>C (p.Arg886Thr)not provided [RCV001962138]uncertain significance9713423713423Humanname
151753969CV1339920single nucleotide variantNM_015158.5(KANK1):c.2186C>G (p.Ser729Cys)not provided [RCV001894616]uncertain significance9712952712952Humanname
151867104CV1342431single nucleotide variantNM_015158.5(KANK1):c.2952C>G (p.Asn984Lys)not provided [RCV001997868]uncertain significance9731213731213Humanname
151838431CV1344757single nucleotide variantNM_015158.5(KANK1):c.2740T>G (p.Ser914Ala)not provided [RCV002015046]uncertain significance9730092730092Humanname
151785222CV1344786single nucleotide variantNM_015158.5(KANK1):c.2474A>G (p.His825Arg)Cerebral palsy, spastic quadriplegic, 2 [RCV002492292]|not provided [RCV001989502]|not specified [RCV004045452]uncertain significance9713240713240Human1name
151856558CV1347721single nucleotide variantNM_015158.5(KANK1):c.2110G>A (p.Asp704Asn)not provided [RCV001979596]|not specified [RCV004044585]likely benign|uncertain significance9712876712876Humanname
151822494CV1351249single nucleotide variantNM_015158.5(KANK1):c.1569A>C (p.Arg523Ser)not provided [RCV001992917]uncertain significance9712335712335Humanname
151736356CV1351398single nucleotide variantNM_015158.5(KANK1):c.1269G>C (p.Lys423Asn)Cerebral palsy, spastic quadriplegic, 2 [RCV002479571]|not provided [RCV002021857]uncertain significance9712035712035Human1name
151874030CV1356468single nucleotide variantNM_015158.5(KANK1):c.2884G>T (p.Ala962Ser)not provided [RCV001925584]uncertain significance9730236730236Humanname
151878876CV1359786single nucleotide variantNM_015158.5(KANK1):c.2968G>A (p.Ala990Thr)Cerebral palsy, spastic quadriplegic, 2 [RCV002479837]|not provided [RCV002036598]|not specified [RCV004044884]likely benign|uncertain significance9731229731229Human1name
151758151CV1361537single nucleotide variantNM_015158.5(KANK1):c.1870G>C (p.Glu624Gln)not provided [RCV001928199]|not specified [RCV004043401]uncertain significance9712636712636Humanname
151780147CV1363580single nucleotide variantNM_015158.5(KANK1):c.2389G>A (p.Val797Met)Cerebral palsy, spastic quadriplegic, 2 [RCV002478139]|not provided [RCV001864886]uncertain significance9713155713155Human1name
151839704CV1368878single nucleotide variantNM_015158.5(KANK1):c.1020A>C (p.Arg340Ser)not provided [RCV002015182]uncertain significance9711786711786Humanname
151778302CV1370635single nucleotide variantNM_015158.5(KANK1):c.1322C>T (p.Thr441Ile)not provided [RCV001864726]uncertain significance9712088712088Humanname
151711250CV1373584single nucleotide variantNM_015158.5(KANK1):c.2143C>T (p.Arg715Trp)Cerebral palsy, spastic quadriplegic, 2 [RCV002490134]|not provided [RCV001889430]uncertain significance9712909712909Human1name
151856297CV1376468single nucleotide variantNM_015158.5(KANK1):c.1997C>T (p.Pro666Leu)Cerebral palsy, spastic quadriplegic, 2 [RCV002492305]|not provided [RCV002033815]|not specified [RCV004045908]uncertain significance9712763712763Human1name
151752002CV1379517single nucleotide variantNM_015158.5(KANK1):c.1961C>A (p.Ala654Asp)KANK1-related disorder [RCV004538635]|not provided [RCV001948232]|not specified [RCV004041840]likely benign|conflicting interpretations of pathogenicity|uncertain significance9712727712727Human1name , trait , alternate_id
151821426CV1387287single nucleotide variantNM_015158.5(KANK1):c.1943G>A (p.Arg648Gln)Cerebral palsy, spastic quadriplegic, 2 [RCV002497843]|not provided [RCV001992813]|not specified [RCV004927776]likely benign|uncertain significance9712709712709Human1name
151738892CV1390107single nucleotide variantNM_015158.5(KANK1):c.2018C>G (p.Thr673Ser)KANK1-related disorder [RCV004538587]|not provided [RCV001893072]uncertain significance9712784712784Human1name , trait , alternate_id
151854735CV1391011single nucleotide variantNM_015158.5(KANK1):c.1069G>C (p.Val357Leu)Cerebral palsy, spastic quadriplegic, 2 [RCV002484753]|not provided [RCV001958448]|not specified [RCV004043754]uncertain significance9711835711835Human1name
151821082CV1391040single nucleotide variantNM_015158.5(KANK1):c.1412G>A (p.Arg471His)Cerebral palsy, spastic quadriplegic, 2 [RCV002492080]|not provided [RCV001992777]|not specified [RCV004043756]uncertain significance9712178712178Human1name
151825878CV1404270single nucleotide variantNM_015158.5(KANK1):c.2374G>A (p.Ala792Thr)not provided [RCV001976179]uncertain significance9713140713140Humanname
151722879CV1412333single nucleotide variantNM_015158.5(KANK1):c.1004T>C (p.Leu335Pro)not provided [RCV001891353]uncertain significance9711770711770Humanname
151872734CV1426361single nucleotide variantNM_015158.5(KANK1):c.1909G>A (p.Val637Met)Cerebral palsy, spastic quadriplegic, 2 [RCV002479648]|not provided [RCV002019158]uncertain significance9712675712675Human1name
151775821CV1427520single nucleotide variantNM_015158.5(KANK1):c.2765C>T (p.Thr922Ile)not provided [RCV001864503]conflicting interpretations of pathogenicity|uncertain significance9730117730117Humanname
151737948CV1432359single nucleotide variantNM_015158.5(KANK1):c.1006T>C (p.Ser336Pro)not provided [RCV002022028]uncertain significance9711772711772Humanname
151801449CV1436793single nucleotide variantNM_015158.5(KANK1):c.1607C>T (p.Thr536Met)not provided [RCV001973944]|not specified [RCV004042355]uncertain significance9712373712373Humanname
151724066CV1436990single nucleotide variantNM_015158.5(KANK1):c.1658C>G (p.Pro553Arg)not provided [RCV002004050]uncertain significance9712424712424Humanname
151759057CV1443746single nucleotide variantNM_015158.5(KANK1):c.1633A>G (p.Asn545Asp)not provided [RCV001873026]uncertain significance9712399712399Humanname
151813369CV1447910single nucleotide variantNM_015158.5(KANK1):c.2366G>T (p.Gly789Val)Cerebral palsy, spastic quadriplegic, 2 [RCV002478375]|not provided [RCV001918836]uncertain significance9713132713132Human1name
151811325CV1448602single nucleotide variantNM_015158.5(KANK1):c.1039A>G (p.Ile347Val)not provided [RCV001974803]uncertain significance9711805711805Humanname
151811452CV1448646single nucleotide variantNM_015158.5(KANK1):c.2845A>G (p.Thr949Ala)not provided [RCV001974815]|not specified [RCV004043048]uncertain significance9730197730197Humanname
151805589CV1457146single nucleotide variantNM_015158.5(KANK1):c.2669T>A (p.Phe890Tyr)not provided [RCV001877770]uncertain significance9713435713435Humanname
151746076CV1457413single nucleotide variantNM_015158.5(KANK1):c.2261T>G (p.Val754Gly)Cerebral palsy, spastic quadriplegic, 2 [RCV002490207]|not provided [RCV001947604]uncertain significance9713027713027Human1name
151751957CV1459092single nucleotide variantNM_015158.5(KANK1):c.1663T>C (p.Cys555Arg)not provided [RCV002043375]uncertain significance9712429712429Humanname
151829916CV1465575single nucleotide variantNM_015158.5(KANK1):c.2635T>C (p.Ser879Pro)not provided [RCV002014211]|not specified [RCV004046687]uncertain significance9713401713401Humanname
151749998CV1465591single nucleotide variantNM_015158.5(KANK1):c.2059G>T (p.Glu687Ter)not provided [RCV002043192]uncertain significance9712825712825Humanname
151828814CV1468643single nucleotide variantNM_015158.5(KANK1):c.2929A>G (p.Ile977Val)Cerebral palsy, spastic quadriplegic, 2 [RCV002492253]|not provided [RCV002030596]uncertain significance9731190731190Human1name
151796211CV1476356single nucleotide variantNM_015158.5(KANK1):c.2513A>G (p.Gln838Arg)not provided [RCV001931888]uncertain significance9713279713279Humanname
151733334CV1477516single nucleotide variantNM_015158.5(KANK1):c.2951A>T (p.Asn984Ile)not provided [RCV001967336]|not specified [RCV004041912]uncertain significance9731212731212Humanname
151833457CV1478979single nucleotide variantNM_015158.5(KANK1):c.1607C>A (p.Thr536Lys)Cerebral palsy, spastic quadriplegic, 2 [RCV002482423]|not provided [RCV002050951]uncertain significance9712373712373Human1name
151839753CV1487672single nucleotide variantNM_015158.5(KANK1):c.1885G>A (p.Gly629Ser)not provided [RCV001935963]uncertain significance9712651712651Humanname
151721606CV1488974single nucleotide variantNM_015158.5(KANK1):c.1216G>A (p.Glu406Lys)Cerebral palsy, spastic quadriplegic, 2 [RCV002486618]|not provided [RCV002040165]|not specified [RCV004045950]uncertain significance9711982711982Human1name
151739196CV1492289single nucleotide variantNM_015158.5(KANK1):c.1624G>A (p.Val542Met)Cerebral palsy, spastic quadriplegic, 2 [RCV002478105]|not provided [RCV002042065]uncertain significance9712390712390Human1name
151765380CV1495813single nucleotide variantNM_015158.5(KANK1):c.2342G>C (p.Cys781Ser)Cerebral palsy, spastic quadriplegic, 2 [RCV002506884]|not provided [RCV001863551]|not specified [RCV004038970]uncertain significance9713108713108Human1name
151761250CV1496372single nucleotide variantNM_015158.5(KANK1):c.2063C>T (p.Thr688Met)Cerebral palsy, spastic quadriplegic, 2 [RCV002490107]|not provided [RCV001895346]|not specified [RCV004041230]uncertain significance9712829712829Human1name
151720273CV1496678single nucleotide variantNM_015158.5(KANK1):c.1514C>G (p.Thr505Arg)not provided [RCV001909616]|not specified [RCV004042813]uncertain significance9712280712280Humanname
151825740CV1507181single nucleotide variantNM_015158.5(KANK1):c.1260G>C (p.Arg420Ser)Cerebral palsy, spastic quadriplegic, 2 [RCV002479502]|not provided [RCV001955195]uncertain significance9712026712026Human1name
151800184CV1509449single nucleotide variantNM_015158.5(KANK1):c.1882A>G (p.Ile628Val)Cerebral palsy, spastic quadriplegic, 2 [RCV002482467]|not provided [RCV001867054]uncertain significance9712648712648Human1name
151797394CV1512848single nucleotide variantNM_015158.5(KANK1):c.2153C>G (p.Ala718Gly)Cerebral palsy, spastic quadriplegic, 2 [RCV002489962]|not provided [RCV001866811]uncertain significance9712919712919Human1name
152139322CV1533457single nucleotide variantNM_015158.5(KANK1):c.2496G>C (p.Lys832Asn)KANK1-related disorder [RCV004543766]|not provided [RCV002083942]likely benign9713262713262Human1name , trait , alternate_id
152153800CV1579376single nucleotide variantNM_015158.5(KANK1):c.1196G>A (p.Arg399Gln)Cerebral palsy, spastic quadriplegic, 2 [RCV002494488]|KANK1-related disorder [RCV004543901]|not provided [RCV002158583]likely benign9711962711962Human1name , trait , alternate_id
152131067CV1635313single nucleotide variantNM_015158.5(KANK1):c.1103G>A (p.Arg368Gln)Cerebral palsy, spastic quadriplegic, 2 [RCV002498095]|KANK1-related disorder [RCV004538761]|not provided [RCV002099492]likely benign9711869711869Human1name , trait , alternate_id
152035522CV1670160single nucleotide variantNM_015158.5(KANK1):c.1710T>G (p.Ile570Met)not provided [RCV002223694]uncertain significance9712476712476Humanname
153349774CV1693948deletionNM_015158.5(KANK1):c.3755del (p.Gly1252fs)not provided [RCV002276193]uncertain significance9742261742261Humanname
155706625CV1772682single nucleotide variantNM_015158.5(KANK1):c.1171G>C (p.Glu391Gln)not provided [RCV002300337]uncertain significance9711937711937Humanname
155750006CV1774862single nucleotide variantNM_015158.5(KANK1):c.1895A>G (p.Asp632Gly)not provided [RCV002305252]uncertain significance9712661712661Humanname
156390273CV1869793single nucleotide variantNM_015158.5(KANK1):c.1678G>A (p.Val560Ile)not provided [RCV003067940]|not specified [RCV004070305]uncertain significance9712444712444Humanname
156368359CV1887736single nucleotide variantNM_015158.5(KANK1):c.1457C>T (p.Thr486Ile)not provided [RCV003092226]uncertain significance9712223712223Humanname
156406375CV1894926single nucleotide variantNM_015158.5(KANK1):c.2903C>T (p.Thr968Ile)not provided [RCV003070339]uncertain significance9731164731164Humanname
156313082CV1896531single nucleotide variantNM_015158.5(KANK1):c.2432C>T (p.Pro811Leu)not provided [RCV003088564]uncertain significance9713198713198Humanname
156289983CV1897383single nucleotide variantNM_015158.5(KANK1):c.1979C>T (p.Ala660Val)not provided [RCV002598713]|not specified [RCV004927886]likely benign|uncertain significance9712745712745Humanname
156182971CV1898203single nucleotide variantNM_015158.5(KANK1):c.2176G>A (p.Asp726Asn)not provided [RCV002595121]uncertain significance9712942712942Humanname
156360492CV1904364single nucleotide variantNM_015158.5(KANK1):c.1868A>G (p.Lys623Arg)not provided [RCV002581691]|not specified [RCV004073355]uncertain significance9712634712634Humanname
156370591CV1905214single nucleotide variantNM_015158.5(KANK1):c.2809A>G (p.Ile937Val)not provided [RCV002582383]|not specified [RCV004068778]likely benign|uncertain significance9730161730161Humanname
156353971CV1910470single nucleotide variantNM_015158.5(KANK1):c.1191G>T (p.Glu397Asp)not provided [RCV002632188]uncertain significance9711957711957Humanname
155961545CV1922516single nucleotide variantNM_015158.5(KANK1):c.1984G>A (p.Val662Ile)not provided [RCV002616756]uncertain significance9712750712750Humanname
156352290CV1923527single nucleotide variantNM_015158.5(KANK1):c.2471A>G (p.Asp824Gly)KANK1-related disorder [RCV004538839]|not provided [RCV002650984]likely benign|uncertain significance9713237713237Human1name , trait , alternate_id
156419155CV1926126single nucleotide variantNM_015158.5(KANK1):c.1591A>G (p.Met531Val)not provided [RCV002612374]uncertain significance9712357712357Humanname
156174189CV1927586single nucleotide variantNM_015158.5(KANK1):c.2881G>A (p.Ala961Thr)not provided [RCV002624813]|not specified [RCV004070843]uncertain significance9730233730233Humanname
156394564CV1931052single nucleotide variantNM_015158.5(KANK1):c.2062A>T (p.Thr688Ser)not provided [RCV002654770]conflicting interpretations of pathogenicity|uncertain significance9712828712828Humanname
156361972CV1931746single nucleotide variantNM_015158.5(KANK1):c.2416G>C (p.Glu806Gln)not provided [RCV002632741]uncertain significance9713182713182Humanname
156448949CV1948260single nucleotide variantNM_015158.5(KANK1):c.1526C>T (p.Pro509Leu)not provided [RCV003121057]uncertain significance9712292712292Humanname
156174872CV1956513single nucleotide variantNM_015158.5(KANK1):c.2621A>G (p.Asn874Ser)not provided [RCV002573926]uncertain significance9713387713387Humanname
156245257CV1956926single nucleotide variantNM_015158.5(KANK1):c.2279G>A (p.Gly760Asp)not provided [RCV002576363]|not specified [RCV004064397]uncertain significance9713045713045Humanname
156264022CV1960778single nucleotide variantNM_015158.5(KANK1):c.2761C>G (p.Gln921Glu)not provided [RCV002576941]uncertain significance9730113730113Humanname
156380935CV1964277single nucleotide variantNM_015158.5(KANK1):c.1834G>A (p.Asp612Asn)not provided [RCV002583161]|not specified [RCV004064450]uncertain significance9712600712600Humanname
156198508CV1967970single nucleotide variantNM_015158.5(KANK1):c.1501G>A (p.Val501Ile)not provided [RCV002625647]|not specified [RCV004065689]uncertain significance9712267712267Humanname
156283780CV1968094single nucleotide variantNM_015158.5(KANK1):c.2765C>A (p.Thr922Lys)not provided [RCV002598481]uncertain significance9730117730117Humanname
155902243CV1975723single nucleotide variantNM_015158.5(KANK1):c.1765T>C (p.Cys589Arg)not provided [RCV002613458]uncertain significance9712531712531Humanname
156416281CV1976506single nucleotide variantNM_015158.5(KANK1):c.2074A>C (p.Ile692Leu)not provided [RCV002589618]uncertain significance9712840712840Humanname
155970393CV1978228single nucleotide variantNM_015158.5(KANK1):c.1582G>A (p.Gly528Ser)not provided [RCV002617153]|not specified [RCV004065696]uncertain significance9712348712348Humanname
155918379CV1981077single nucleotide variantNM_015158.5(KANK1):c.1147G>A (p.Asp383Asn)not provided [RCV002614429]uncertain significance9711913711913Humanname
156224936CV1981526single nucleotide variantNM_015158.5(KANK1):c.1165T>G (p.Ser389Ala)not provided [RCV002626584]|not specified [RCV004065927]uncertain significance9711931711931Humanname
156164544CV1986125single nucleotide variantNM_015158.5(KANK1):c.2894A>G (p.Tyr965Cys)not provided [RCV002642529]|not specified [RCV004066657]uncertain significance9730246730246Humanname
156083018CV1992859single nucleotide variantNM_015158.5(KANK1):c.2884G>A (p.Ala962Thr)not provided [RCV002638960]uncertain significance9730236730236Humanname
156402967CV1992951single nucleotide variantNM_015158.5(KANK1):c.2281G>A (p.Val761Met)not provided [RCV002657753]uncertain significance9713047713047Humanname
156100151CV2001018single nucleotide variantNM_015158.5(KANK1):c.2956G>T (p.Asp986Tyr)not provided [RCV002639551]uncertain significance9731217731217Humanname
156142719CV2002831single nucleotide variantNM_015158.5(KANK1):c.2674A>C (p.Lys892Gln)not provided [RCV002663627]uncertain significance9713440713440Humanname
156292277CV2009792single nucleotide variantNM_015158.5(KANK1):c.2003C>G (p.Thr668Ser)not provided [RCV002715704]uncertain significance9712769712769Humanname
156401205CV2013375single nucleotide variantNM_015158.5(KANK1):c.2947G>C (p.Gly983Arg)not provided [RCV002726019]uncertain significance9731208731208Humanname
156199065CV2034632single nucleotide variantNM_015158.5(KANK1):c.1027G>A (p.Gly343Arg)not provided [RCV002766168]uncertain significance9711793711793Humanname
155945135CV2039557single nucleotide variantNM_015158.5(KANK1):c.2017A>G (p.Thr673Ala)not provided [RCV002775434]uncertain significance9712783712783Humanname
155956881CV2040192single nucleotide variantNM_015158.5(KANK1):c.2239G>C (p.Gly747Arg)not provided [RCV002776063]uncertain significance9713005713005Humanname
156108122CV2046079single nucleotide variantNM_015158.5(KANK1):c.2159G>C (p.Gly720Ala)not provided [RCV002785287]uncertain significance9712925712925Humanname
156036432CV2052548single nucleotide variantNM_015158.5(KANK1):c.1039A>C (p.Ile347Leu)not provided [RCV002796267]uncertain significance9711805711805Humanname
156236764CV2108883single nucleotide variantNM_015158.5(KANK1):c.1009C>T (p.Arg337Trp)not provided [RCV002933052]|not specified [RCV004632102]uncertain significance9711775711775Humanname
156240174CV2109129single nucleotide variantNM_015158.5(KANK1):c.1397A>G (p.Lys466Arg)not provided [RCV002933172]uncertain significance9712163712163Humanname
156196633CV2113715single nucleotide variantNM_015158.5(KANK1):c.2420C>A (p.Ser807Tyr)not provided [RCV002957234]uncertain significance9713186713186Humanname
156354128CV2118985single nucleotide variantNM_015158.5(KANK1):c.1010G>A (p.Arg337Gln)not provided [RCV002966527]|not specified [RCV004068140]uncertain significance9711776711776Humanname
156238842CV2119387single nucleotide variantNM_015158.5(KANK1):c.2200C>T (p.Arg734Trp)not provided [RCV002958794]uncertain significance9712966712966Humanname
156219065CV2128142single nucleotide variantNM_015158.5(KANK1):c.2663C>G (p.Pro888Arg)not provided [RCV002958067]|not specified [RCV004067303]uncertain significance9713429713429Humanname
155957578CV2141895single nucleotide variantNM_015158.5(KANK1):c.2741C>T (p.Ser914Leu)KANK1-related disorder [RCV004736237]|not provided [RCV002972211]|not specified [RCV004065112]uncertain significance9730093730093Human1name , trait , alternate_id
155941035CV2142939single nucleotide variantNM_015158.5(KANK1):c.1283G>A (p.Gly428Glu)not provided [RCV002994056]|not specified [RCV004065267]uncertain significance9712049712049Humanname
10449890CV215403single nucleotide variantNM_015158.5(KANK1):c.2486G>A (p.Arg829His)not provided [RCV001853269]|not specified [RCV000203061]uncertain significance9713252713252Humanname
156250591CV2162599single nucleotide variantNM_015158.5(KANK1):c.2475C>G (p.His825Gln)not provided [RCV003026325]uncertain significance9713241713241Humanname
156234915CV2180673single nucleotide variantNM_015158.5(KANK1):c.2306A>G (p.Asn769Ser)not provided [RCV003043229]uncertain significance9713072713072Humanname
155960877CV2183465single nucleotide variantNM_015158.5(KANK1):c.2090A>G (p.Asn697Ser)not provided [RCV003032930]uncertain significance9712856712856Humanname
156283853CV2187017single nucleotide variantNM_015158.5(KANK1):c.1567A>G (p.Arg523Gly)not provided [RCV003044869]uncertain significance9712333712333Humanname
156377259CV2189133single nucleotide variantNM_015158.5(KANK1):c.2074A>G (p.Ile692Val)Cerebral palsy, spastic quadriplegic, 2 [RCV003134592]|not provided [RCV003050209]|not specified [RCV004070096]likely benign|uncertain significance9712840712840Human1name
156397753CV2197513single nucleotide variantNM_015158.5(KANK1):c.1798T>A (p.Cys600Ser)not specified [RCV004081239]uncertain significance9712564712564Humanname
156187303CV2226674single nucleotide variantNM_015158.5(KANK1):c.2831C>T (p.Pro944Leu)not specified [RCV004101907]uncertain significance9730183730183Humanname
156232612CV2227695single nucleotide variantNM_015158.5(KANK1):c.2912A>G (p.Glu971Gly)not specified [RCV004094085]uncertain significance9731173731173Humanname
156050942CV2237881single nucleotide variantNM_015158.5(KANK1):c.1774A>T (p.Ser592Cys)not specified [RCV004109109]uncertain significance9712540712540Humanname
156057980CV2239167single nucleotide variantNM_015158.5(KANK1):c.1555G>T (p.Val519Leu)not specified [RCV004112154]uncertain significance9712321712321Humanname
155940883CV2294155single nucleotide variantNM_015158.5(KANK1):c.2897C>T (p.Ala966Val)not specified [RCV004149522]likely benign9731158731158Humanname
156273034CV2323493single nucleotide variantNM_015158.5(KANK1):c.2582C>T (p.Ser861Phe)not specified [RCV004165701]uncertain significance9713348713348Humanname
156308310CV2369907single nucleotide variantNM_015158.5(KANK1):c.1616G>A (p.Gly539Glu)not specified [RCV004208376]uncertain significance9712382712382Humanname
156264569CV2388962single nucleotide variantNM_015158.5(KANK1):c.1002G>T (p.Gln334His)not specified [RCV004241961]uncertain significance9711768711768Humanname
155928724CV2388964single nucleotide variantNM_015158.5(KANK1):c.1003C>T (p.Leu335Phe)not specified [RCV004241963]uncertain significance9711769711769Humanname
156153563CV2394995single nucleotide variantNM_015158.5(KANK1):c.2059G>A (p.Glu687Lys)not provided [RCV003738356]|not specified [RCV004236689]uncertain significance9712825712825Humanname
155969760CV2400792single nucleotide variantNM_015158.5(KANK1):c.1730T>G (p.Met577Arg)not specified [RCV004242452]uncertain significance9712496712496Humanname
243057925CV2405578single nucleotide variantNM_015158.5(KANK1):c.2174A>C (p.Lys725Thr)Cerebral palsy, spastic quadriplegic, 2 [RCV003133771]uncertain significance9712940712940Human1name
243053672CV2405579single nucleotide variantNM_015158.5(KANK1):c.1225A>G (p.Met409Val)Cerebral palsy, spastic quadriplegic, 2 [RCV003131294]|not specified [RCV004246006]uncertain significance9711991711991Human1name
329390803CV2437282single nucleotide variantNM_015158.5(KANK1):c.1573C>A (p.Gln525Lys)not specified [RCV004256165]uncertain significance9712339712339Humanname
329393919CV2449958single nucleotide variantNM_015158.5(KANK1):c.1453A>T (p.Met485Leu)not specified [RCV004269025]uncertain significance9712219712219Humanname
401731922CV2674520single nucleotide variantNM_015158.5(KANK1):c.1190A>G (p.Glu397Gly)not specified [RCV004291399]uncertain significance9711956711956Humanname
401734698CV2690656single nucleotide variantNM_015158.5(KANK1):c.2258C>G (p.Ala753Gly)not specified [RCV004298390]uncertain significance9713024713024Humanname
401775531CV2692406single nucleotide variantNM_015158.5(KANK1):c.1490C>G (p.Ser497Trp)not specified [RCV004312169]uncertain significance9712256712256Humanname
401760093CV2694920single nucleotide variantNM_015158.5(KANK1):c.1885G>C (p.Gly629Arg)not specified [RCV004301309]uncertain significance9712651712651Humanname
401731047CV2707673single nucleotide variantNM_015158.5(KANK1):c.1952A>C (p.Asn651Thr)not specified [RCV004306933]uncertain significance9712718712718Humanname
401734237CV2709418single nucleotide variantNM_015158.5(KANK1):c.1735G>A (p.Asp579Asn)not provided [RCV005061194]|not specified [RCV004318674]uncertain significance9712501712501Humanname
401779464CV2718566single nucleotide variantNM_015158.5(KANK1):c.2435A>C (p.Gln812Pro)not specified [RCV004318365]uncertain significance9713201713201Humanname
401743877CV2726186single nucleotide variantNM_015158.5(KANK1):c.1233C>A (p.Asp411Glu)not specified [RCV004326663]uncertain significance9711999711999Humanname
11638252CV274625single nucleotide variantNM_015158.5(KANK1):c.1417G>A (p.Glu473Lys)not provided [RCV000300034]uncertain significance9712183712183Humanname
401897969CV2769875single nucleotide variantNM_015158.5(KANK1):c.1892G>A (p.Gly631Glu)not specified [RCV004353724]uncertain significance9712658712658Humanname
401879307CV2773009single nucleotide variantNM_015158.5(KANK1):c.2223G>C (p.Leu741Phe)not specified [RCV004351461]uncertain significance9712989712989Humanname
401926917CV2796767single nucleotide variantNM_015158.5(KANK1):c.2335A>G (p.Ile779Val)KANK1-related disorder [RCV004528629]uncertain significance9713101713101Humanname , trait , alternate_id
401913541CV2797547single nucleotide variantNM_015158.5(KANK1):c.2118G>T (p.Gln706His)KANK1-related disorder [RCV004531709]uncertain significance9712884712884Humanname , trait , alternate_id
405088807CV2859181single nucleotide variantNM_015158.5(KANK1):c.1462C>G (p.Leu488Val)not provided [RCV003549756]uncertain significance9712228712228Humanname
405214978CV2876038single nucleotide variantNM_015158.5(KANK1):c.1739G>A (p.Arg580Gln)not provided [RCV003553100]uncertain significance9712505712505Humanname
402494271CV2890434single nucleotide variantNM_015158.5(KANK1):c.1448G>A (p.Arg483Gln)not provided [RCV003573219]|not specified [RCV004927923]likely benign|uncertain significance9712214712214Humanname
405128640CV2893383single nucleotide variantNM_015158.5(KANK1):c.2079G>T (p.Glu693Asp)not provided [RCV003559822]uncertain significance9712845712845Humanname
405187662CV2917728single nucleotide variantNM_015158.5(KANK1):c.2086A>C (p.Thr696Pro)not provided [RCV003564585]uncertain significance9712852712852Humanname
405124482CV2942405single nucleotide variantNM_015158.5(KANK1):c.1304A>G (p.Asn435Ser)not provided [RCV003671625]uncertain significance9712070712070Humanname
405124141CV2942495single nucleotide variantNM_015158.5(KANK1):c.1250G>A (p.Arg417Lys)not provided [RCV003671682]uncertain significance9712016712016Humanname
405115951CV2953243single nucleotide variantNM_015158.5(KANK1):c.1625T>C (p.Val542Ala)not provided [RCV003666921]uncertain significance9712391712391Humanname
405123426CV2954287single nucleotide variantNM_015158.5(KANK1):c.2414G>A (p.Gly805Glu)not provided [RCV003667686]uncertain significance9713180713180Humanname
405137492CV2963254single nucleotide variantNM_015158.5(KANK1):c.2240G>A (p.Gly747Glu)not provided [RCV003668913]uncertain significance9713006713006Humanname
405247083CV2966595single nucleotide variantNM_015158.5(KANK1):c.1205C>T (p.Ala402Val)not provided [RCV003685585]uncertain significance9711971711971Humanname
405234036CV2975586single nucleotide variantNM_015158.5(KANK1):c.1210G>T (p.Gly404Cys)not provided [RCV003682735]uncertain significance9711976711976Humanname
405200677CV2978878single nucleotide variantNM_015158.5(KANK1):c.1277C>G (p.Ala426Gly)not provided [RCV003678152]uncertain significance9712043712043Humanname
405200782CV2978900single nucleotide variantNM_015158.5(KANK1):c.1447C>T (p.Arg483Trp)not provided [RCV003678161]uncertain significance9712213712213Humanname
405239080CV2996964single nucleotide variantNM_015158.5(KANK1):c.2713T>C (p.Tyr905His)not provided [RCV003718783]uncertain significance9730065730065Humanname
405249703CV3000844single nucleotide variantNM_015158.5(KANK1):c.2236T>G (p.Ser746Ala)not provided [RCV003721415]uncertain significance9713002713002Humanname
405041195CV3007489deletionNM_015158.5(KANK1):c.3237del (p.Arg1080fs)not provided [RCV003696336]uncertain significance9732609732609Humanname
405041594CV3007545single nucleotide variantNM_015158.5(KANK1):c.2772G>C (p.Gln924His)not provided [RCV003696365]uncertain significance9730124730124Humanname
405181777CV3024377single nucleotide variantNM_015158.5(KANK1):c.2485C>T (p.Arg829Cys)not provided [RCV003705605]|not specified [RCV005356500]likely benign|uncertain significance9713251713251Humanname
405182028CV3024402single nucleotide variantNM_015158.5(KANK1):c.1699A>C (p.Asn567His)not provided [RCV003705630]uncertain significance9712465712465Humanname
405220367CV3032135single nucleotide variantNM_015158.5(KANK1):c.1325A>G (p.Glu442Gly)not provided [RCV003709880]uncertain significance9712091712091Humanname
402512612CV3039760single nucleotide variantNM_015158.5(KANK1):c.2075T>C (p.Ile692Thr)not provided [RCV003715812]uncertain significance9712841712841Humanname
405253821CV3045025single nucleotide variantNM_015158.5(KANK1):c.1535T>C (p.Phe512Ser)not provided [RCV003722710]uncertain significance9712301712301Humanname
405093573CV3045591single nucleotide variantNM_015158.5(KANK1):c.2980C>T (p.Leu994Phe)not provided [RCV003717996]uncertain significance9731241731241Humanname
405141722CV3046139single nucleotide variantNM_015158.5(KANK1):c.2702A>T (p.Asn901Ile)not provided [RCV003725703]uncertain significance9730054730054Humanname
405103269CV3119661single nucleotide variantNM_015158.5(KANK1):c.1483G>A (p.Ala495Thr)not provided [RCV003811923]uncertain significance9712249712249Humanname
405178220CV3123539single nucleotide variantNM_015158.5(KANK1):c.1558G>A (p.Val520Met)not provided [RCV003819748]likely benign9712324712324Humanname
405109130CV3136715single nucleotide variantNM_015158.5(KANK1):c.2917A>T (p.Thr973Ser)not provided [RCV003835869]uncertain significance9731178731178Humanname
405068159CV3140145single nucleotide variantNM_015158.5(KANK1):c.1508A>G (p.Lys503Arg)not provided [RCV003833300]uncertain significance9712274712274Humanname
405065447CV3144817single nucleotide variantNM_015158.5(KANK1):c.2200C>G (p.Arg734Gly)not provided [RCV003850594]uncertain significance9712966712966Humanname
405054153CV3151384single nucleotide variantNM_015158.5(KANK1):c.1195C>T (p.Arg399Trp)KANK1-related disorder [RCV004539171]|not provided [RCV003849793]uncertain significance9711961711961Human1name , trait , alternate_id
405200405CV3164553single nucleotide variantNM_015158.5(KANK1):c.1723G>A (p.Val575Met)not provided [RCV003860610]uncertain significance9712489712489Humanname
402484365CV3171253single nucleotide variantNM_015158.5(KANK1):c.1968C>A (p.Ser656Arg)not provided [RCV003876280]uncertain significance9712734712734Humanname
402472623CV3171714single nucleotide variantNM_015158.5(KANK1):c.1051G>A (p.Glu351Lys)not provided [RCV003874498]uncertain significance9711817711817Humanname
404983099CV3184282single nucleotide variantNM_015158.5(KANK1):c.1936G>A (p.Ala646Thr)not provided [RCV003880774]uncertain significance9712702712702Humanname
405264415CV3189951single nucleotide variantNM_015158.5(KANK1):c.1561C>A (p.Gln521Lys)KANK1-related disorder [RCV004534459]uncertain significance9712327712327Humanname , trait , alternate_id
405268785CV3201151single nucleotide variantNM_015158.5(KANK1):c.1576A>T (p.Met526Leu)KANK1-related disorder [RCV004531850]uncertain significance9712342712342Humanname , trait , alternate_id
405274609CV3208954single nucleotide variantNM_015158.5(KANK1):c.1915G>A (p.Val639Ile)KANK1-related disorder [RCV004542372]likely benign9712681712681Humanname , trait , alternate_id
405287899CV3217983single nucleotide variantNM_015158.5(KANK1):c.2724G>C (p.Lys908Asn)KANK1-related disorder [RCV004542575]|not specified [RCV005358080]uncertain significance9730076730076Human1name , trait , alternate_id
405699679CV3227223single nucleotide variantNM_015158.5(KANK1):c.1507A>G (p.Lys503Glu)Cerebral palsy, spastic quadriplegic, 2 [RCV003993574]uncertain significance9712273712273Human1name
405690443CV3227395single nucleotide variantNM_015158.5(KANK1):c.2918C>T (p.Thr973Ile)Cerebral palsy, spastic quadriplegic, 2 [RCV003991739]uncertain significance9731179731179Human1name
405801551CV3271788single nucleotide variantNM_015158.5(KANK1):c.1069G>A (p.Val357Ile)not specified [RCV004403486]uncertain significance9711835711835Humanname
405801553CV3271789single nucleotide variantNM_015158.5(KANK1):c.1165T>C (p.Ser389Pro)not specified [RCV004403487]uncertain significance9711931711931Humanname
405801561CV3271793single nucleotide variantNM_015158.5(KANK1):c.1721G>C (p.Arg574Thr)not specified [RCV004403491]uncertain significance9712487712487Humanname
405801566CV3271795single nucleotide variantNM_015158.5(KANK1):c.1886G>C (p.Gly629Ala)not specified [RCV004403493]uncertain significance9712652712652Humanname
405801568CV3271796single nucleotide variantNM_015158.5(KANK1):c.2014G>A (p.Asp672Asn)not specified [RCV004403494]uncertain significance9712780712780Humanname
405801570CV3271797single nucleotide variantNM_015158.5(KANK1):c.2026G>T (p.Asp676Tyr)not specified [RCV004403495]uncertain significance9712792712792Humanname
405801572CV3271798single nucleotide variantNM_015158.5(KANK1):c.2075T>A (p.Ile692Lys)not specified [RCV004403496]uncertain significance9712841712841Humanname
405801574CV3271799single nucleotide variantNM_015158.5(KANK1):c.2144G>A (p.Arg715Gln)not specified [RCV004403497]uncertain significance9712910712910Humanname
405801576CV3271800single nucleotide variantNM_015158.5(KANK1):c.2168G>A (p.Arg723His)not provided [RCV005065047]|not specified [RCV004403498]uncertain significance9712934712934Humanname
405801578CV3271801single nucleotide variantNM_015158.5(KANK1):c.2624C>G (p.Ser875Cys)not provided [RCV005104487]|not specified [RCV004403499]uncertain significance9713390713390Humanname
405801584CV3271804single nucleotide variantNM_015158.5(KANK1):c.2822A>T (p.Asp941Val)not specified [RCV004403502]uncertain significance9730174730174Humanname
407467269CV3448222single nucleotide variantNM_015158.5(KANK1):c.1411C>T (p.Arg471Cys)not specified [RCV004635850]uncertain significance9712177712177Humanname
407467273CV3448223single nucleotide variantNM_015158.5(KANK1):c.1616G>C (p.Gly539Ala)not specified [RCV004635851]uncertain significance9712382712382Humanname
407467276CV3448224single nucleotide variantNM_015158.5(KANK1):c.1356C>G (p.Asp452Glu)not specified [RCV004635852]uncertain significance9712122712122Humanname
407467298CV3448229single nucleotide variantNM_015158.5(KANK1):c.1331T>C (p.Met444Thr)not specified [RCV004635857]uncertain significance9712097712097Humanname
407467307CV3448231single nucleotide variantNM_015158.5(KANK1):c.2645C>T (p.Thr882Ile)not specified [RCV004635859]uncertain significance9713411713411Humanname
407467312CV3448232single nucleotide variantNM_015158.5(KANK1):c.2441A>C (p.Gln814Pro)not specified [RCV004635860]uncertain significance9713207713207Humanname
407467321CV3448234single nucleotide variantNM_015158.5(KANK1):c.2164G>T (p.Gly722Cys)not specified [RCV004635862]uncertain significance9712930712930Humanname
408380628CV3501223single nucleotide variantNM_015158.5(KANK1):c.2846C>G (p.Thr949Arg)not provided [RCV004727312]uncertain significance9730198730198Humanname
408379715CV3507117single nucleotide variantNM_015158.5(KANK1):c.1451A>T (p.Glu484Val)KANK1-related disorder [RCV004728543]uncertain significance9712217712217Humanname , trait , alternate_id
408369020CV3507497single nucleotide variantNM_015158.5(KANK1):c.1423C>T (p.Gln475Ter)KANK1-related disorder [RCV004736483]uncertain significance9712189712189Humanname , trait , alternate_id
408368692CV3513526single nucleotide variantNM_015158.5(KANK1):c.1136A>G (p.Gln379Arg)KANK1-related disorder [RCV004735286]uncertain significance9711902711902Humanname , trait , alternate_id
12850133CV363800single nucleotide variantNM_015158.5(KANK1):c.2479A>G (p.Ile827Val)not provided [RCV000441945]uncertain significance9713245713245Humanname
597778129CV3691577single nucleotide variantNM_015158.5(KANK1):c.1102C>T (p.Arg368Trp)not specified [RCV004930056]likely benign9711868711868Humanname
597778150CV3691582single nucleotide variantNM_015158.5(KANK1):c.2278G>C (p.Gly760Arg)not specified [RCV004930061]uncertain significance9713044713044Humanname
597778159CV3691584single nucleotide variantNM_015158.5(KANK1):c.1166C>T (p.Ser389Phe)not specified [RCV004930063]likely benign9711932711932Humanname
597778179CV3691589single nucleotide variantNM_015158.5(KANK1):c.2635T>A (p.Ser879Thr)not specified [RCV004930068]uncertain significance9713401713401Humanname
597778187CV3691591single nucleotide variantNM_015158.5(KANK1):c.1825T>C (p.Ser609Pro)not specified [RCV004930070]uncertain significance9712591712591Humanname
597778191CV3691592single nucleotide variantNM_015158.5(KANK1):c.1874T>G (p.Val625Gly)not specified [RCV004930071]uncertain significance9712640712640Humanname
597778206CV3691596single nucleotide variantNM_015158.5(KANK1):c.1642G>A (p.Gly548Ser)not provided [RCV005110389]|not specified [RCV004930075]uncertain significance9712408712408Humanname
597903379CV3741615single nucleotide variantNM_015158.5(KANK1):c.2288A>C (p.Gln763Pro)not provided [RCV005072586]uncertain significance9713054713054Humanname
597970574CV3750292single nucleotide variantNM_015158.5(KANK1):c.2788G>C (p.Gly930Arg)not provided [RCV005084233]uncertain significance9730140730140Humanname
597932556CV3789827single nucleotide variantNM_015158.5(KANK1):c.1150A>G (p.Ser384Gly)not provided [RCV005131906]uncertain significance9711916711916Humanname
597974942CV3798633single nucleotide variantNM_015158.5(KANK1):c.2678C>A (p.Thr893Asn)not provided [RCV005144221]uncertain significance9713444713444Humanname
597971706CV3802667single nucleotide variantNM_015158.5(KANK1):c.2978A>G (p.Asn993Ser)not provided [RCV005142265]uncertain significance9731239731239Humanname
597937048CV3807765single nucleotide variantNM_015158.5(KANK1):c.2916T>G (p.Ser972Arg)not provided [RCV005158144]uncertain significance9731177731177Humanname
597856598CV3816599single nucleotide variantNM_015158.5(KANK1):c.2833A>C (p.Thr945Pro)not provided [RCV005146172]uncertain significance9730185730185Humanname
597976354CV3829572single nucleotide variantNM_015158.5(KANK1):c.1539T>A (p.Ser513Arg)not provided [RCV005169839]uncertain significance9712305712305Humanname
597975263CV3832304single nucleotide variantNM_015158.5(KANK1):c.1199C>A (p.Ser400Tyr)not provided [RCV005169041]uncertain significance9711965711965Humanname
597895523CV3833692single nucleotide variantNM_015158.5(KANK1):c.2245G>A (p.Asp749Asn)not provided [RCV005180384]uncertain significance9713011713011Humanname
597929120CV3837389single nucleotide variantNM_015158.5(KANK1):c.2872G>A (p.Asp958Asn)not provided [RCV005185547]uncertain significance9730224730224Humanname
597953861CV3844282single nucleotide variantNM_015158.5(KANK1):c.2465G>C (p.Gly822Ala)not provided [RCV005190955]uncertain significance9713231713231Humanname
597934060CV3844806single nucleotide variantNM_015158.5(KANK1):c.2201G>A (p.Arg734Gln)not provided [RCV005186312]uncertain significance9712967712967Humanname
597875019CV3846426single nucleotide variantNM_015158.5(KANK1):c.1240G>A (p.Val414Met)not provided [RCV005177309]uncertain significance9712006712006Humanname
597943294CV3847646single nucleotide variantNM_015158.5(KANK1):c.1460A>G (p.Lys487Arg)not provided [RCV005188374]uncertain significance9712226712226Humanname
597943299CV3847647single nucleotide variantNM_015158.5(KANK1):c.2228C>G (p.Ser743Cys)not provided [RCV005188375]uncertain significance9712994712994Humanname
597947818CV3852353single nucleotide variantNM_015158.5(KANK1):c.2141C>T (p.Thr714Met)not provided [RCV005189430]uncertain significance9712907712907Humanname
597965989CV3859010single nucleotide variantNM_015158.5(KANK1):c.1877G>A (p.Arg626Gln)not provided [RCV005194405]uncertain significance9712643712643Humanname
597919141CV3861652deletionNM_015158.5(KANK1):c.3429del (p.Phe1143fs)not provided [RCV005204808]uncertain significance9738377738377Humanname
598129159CV3888452single nucleotide variantNM_015158.5(KANK1):c.2621A>C (p.Asn874Thr)not provided [RCV005244626]uncertain significance9713387713387Humanname
12896655CV389871single nucleotide variantNM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter)not provided [RCV001861660]|not specified [RCV000455643]uncertain significance9711804711804Humanname
598258933CV3979875single nucleotide variantNM_015158.5(KANK1):c.1174C>G (p.Leu392Val)not specified [RCV005347311]uncertain significance9711940711940Humanname
598258938CV3979879single nucleotide variantNM_015158.5(KANK1):c.2198C>G (p.Thr733Arg)not specified [RCV005347312]likely benign9712964712964Humanname
598258954CV3979883single nucleotide variantNM_015158.5(KANK1):c.1286C>T (p.Thr429Ile)not specified [RCV005347315]uncertain significance9712052712052Humanname
598258957CV3979884single nucleotide variantNM_015158.5(KANK1):c.2617A>G (p.Ile873Val)not specified [RCV005347316]uncertain significance9713383713383Humanname
598212356CV3979888single nucleotide variantNM_015158.5(KANK1):c.1744G>C (p.Ala582Pro)not specified [RCV005358815]likely benign9712510712510Humanname
598199563CV4007329single nucleotide variantNM_015158.5(KANK1):c.2351C>G (p.Pro784Arg)Cerebral palsy, spastic quadriplegic, 2 [RCV005398157]uncertain significance9713117713117Human1name
12892783CV404783single nucleotide variantNM_015158.5(KANK1):c.2933T>C (p.Met978Thr)Cerebral palsy, spastic quadriplegic, 2 [RCV000477905]likely pathogenic|uncertain significance9731194731194Human1name
12906635CV415200single nucleotide variantNM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr)Cerebral palsy, spastic quadriplegic, 2 [RCV002489197]|not provided [RCV000489460]|not specified [RCV004023257]uncertain significance9712418712418Human1name
13627095CV425216single nucleotide variantNM_015158.5(KANK1):c.2885C>T (p.Ala962Val)Cerebral palsy, spastic quadriplegic, 2 [RCV000655956]uncertain significance9730237730237Human1name
13462922CV438790single nucleotide variantNM_015158.5(KANK1):c.1801G>A (p.Glu601Lys)not provided [RCV000515083]likely benign|conflicting interpretations of pathogenicity9712567712567Humanname
13462624CV439024single nucleotide variantNM_015158.5(KANK1):c.1760A>G (p.Glu587Gly)not provided [RCV000514494]benign|likely benign9712526712526Humanname
13462113CV439839single nucleotide variantNM_015158.5(KANK1):c.1360G>A (p.Glu454Lys)not provided [RCV000515615]uncertain significance9712126712126Humanname
13484479CV444511single nucleotide variantNM_015158.5(KANK1):c.1579G>A (p.Val527Ile)not provided [RCV000522345]uncertain significance9712345712345Humanname
13481216CV444512single nucleotide variantNM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)Cerebral palsy, spastic quadriplegic, 2 [RCV002481716]|KANK1-related disorder [RCV000709863]|not provided [RCV000521449]uncertain significance|not provided9712577712577Human1name , trait , alternate_id
13706432CV537532single nucleotide variantNM_015158.5(KANK1):c.1697T>C (p.Met566Thr)not provided [RCV000659114]uncertain significance9712463712463Humanname
15123362CV712009single nucleotide variantNM_015158.5(KANK1):c.2825C>A (p.Ala942Asp)KANK1-related disorder [RCV004535926]|not provided [RCV000963227]benign|likely benign9730177730177Human4name , trait , alternate_id
15123362CV712009single nucleotide variantNM_015158.5(KANK1):c.2825C>A (p.Ala942Asp)KANK1-related disorder [RCV004535926]|not provided [RCV000963227]benign|likely benign9730177730178Human4name , trait , alternate_id
15151595CV723614single nucleotide variantNM_015158.5(KANK1):c.1517T>C (p.Met506Thr)not provided [RCV000879628]likely benign9712283712283Humanname
15185393CV723615single nucleotide variantNM_015158.5(KANK1):c.1600G>A (p.Val534Met)Cerebral palsy, spastic quadriplegic, 2 [RCV002501423]|KANK1-related disorder [RCV004541805]|not provided [RCV000886683]likely benign9712366712366Human1name , trait , alternate_id
15099163CV723618single nucleotide variantNM_015158.5(KANK1):c.2725T>G (p.Cys909Gly)not provided [RCV000891895]benign|likely benign9730077730077Humanname
15181300CV737175single nucleotide variantNM_015158.5(KANK1):c.1988T>C (p.Met663Thr)KANK1-related disorder [RCV004541924]|not provided [RCV000907551]likely benign9712754712754Human1name , trait , alternate_id
15125892CV737176single nucleotide variantNM_015158.5(KANK1):c.1991C>T (p.Ala664Val)not provided [RCV000896841]benign9712757712757Humanname
15161792CV751753single nucleotide variantNM_015158.5(KANK1):c.1732C>T (p.His578Tyr)KANK1-related disorder [RCV004543477]|not provided [RCV000925757]likely benign9712498712498Human1name , trait , alternate_id
15126451CV751755single nucleotide variantNM_015158.5(KANK1):c.2662C>G (p.Pro888Ala)not provided [RCV000919328]likely benign9713428713428Humanname
15177034CV767466single nucleotide variantNM_015158.5(KANK1):c.2113A>G (p.Lys705Glu)KANK1-related disorder [RCV004533576]|not provided [RCV000929059]likely benign9712879712879Human1name , trait , alternate_id
21069900CV796329single nucleotide variantNM_015158.5(KANK1):c.2077G>A (p.Glu693Lys)Cerebral palsy, spastic quadriplegic, 2 [RCV002505525]|not provided [RCV000999117]|not specified [RCV004030251]uncertain significance9712843712843Human1name
126770491CV1008701single nucleotide variantNM_015158.5(KANK1):c.3182C>T (p.Ala1061Val)not provided [RCV001322602]uncertain significance9732554732554Humanname
127301043CV1156253single nucleotide variantNM_015158.5(KANK1):c.3164T>C (p.Ile1055Thr)not provided [RCV001514492]benign9732536732536Humanname
151761411CV1346387single nucleotide variantNM_015158.5(KANK1):c.3128C>T (p.Thr1043Ile)not provided [RCV001970234]uncertain significance9732500732500Humanname
151811970CV1346872single nucleotide variantNM_015158.5(KANK1):c.3770G>A (p.Gly1257Glu)not provided [RCV002048942]uncertain significance9742278742278Humanname
151734346CV1354559single nucleotide variantNM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp)Cerebral palsy, spastic quadriplegic, 2 [RCV002482652]|not provided [RCV001892578]|not specified [RCV004041292]uncertain significance9742272742272Human1name
151723640CV1358292single nucleotide variantNM_015158.5(KANK1):c.3454C>T (p.Arg1152Cys)not provided [RCV001945249]uncertain significance9738405738405Humanname
151867051CV1358780single nucleotide variantNM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu)Cerebral palsy, spastic quadriplegic, 2 [RCV002492047]|not provided [RCV001939285]|not specified [RCV004927772]likely benign|uncertain significance9738333738333Human1name
151848379CV1362116single nucleotide variantNM_015158.5(KANK1):c.3869C>A (p.Pro1290His)Cerebral palsy, spastic quadriplegic, 2 [RCV002479532]|not provided [RCV001937025]|not specified [RCV005370061]likely benign|uncertain significance9742377742377Human1name
151808336CV1362744single nucleotide variantNM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser)Cerebral palsy, spastic quadriplegic, 2 [RCV002486594]|not provided [RCV001991584]|not specified [RCV004631909]uncertain significance9734783734783Human1name
151812427CV1376867single nucleotide variantNM_015158.5(KANK1):c.3867G>C (p.Gln1289His)not provided [RCV001900083]|not specified [RCV004039797]uncertain significance9742375742375Humanname
151835191CV1394466single nucleotide variantNM_015158.5(KANK1):c.3974A>G (p.Asn1325Ser)not provided [RCV002051128]uncertain significance9744567744567Humanname
151794027CV1394870single nucleotide variantNM_015158.5(KANK1):c.3946A>G (p.Ile1316Val)not provided [RCV001973315]|not specified [RCV004044717]uncertain significance9744539744539Humanname
151727546CV1412735single nucleotide variantNM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser)Cerebral palsy, spastic quadriplegic, 2 [RCV002503619]|not provided [RCV001945712]|not specified [RCV004044172]uncertain significance9742388742388Human1name
151834484CV1413100single nucleotide variantNM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg)Cerebral palsy, spastic quadriplegic, 2 [RCV002492100]|not provided [RCV002014637]uncertain significance9742241742241Human1name
151837645CV1417076single nucleotide variantNM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu)Cerebral palsy, spastic quadriplegic, 2 [RCV002497934]|not provided [RCV002014966]|not specified [RCV004042331]uncertain significance9744588744588Human1name
151806600CV1426255single nucleotide variantNM_015158.5(KANK1):c.3137T>C (p.Met1046Thr)Cerebral palsy, spastic quadriplegic, 2 [RCV002479645]|not provided [RCV001974393]|not specified [RCV004042379]uncertain significance9732509732509Human1name
151806701CV1426268single nucleotide variantNM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly)Cerebral palsy, spastic quadriplegic, 2 [RCV002479646]|not provided [RCV001974401]uncertain significance9742350742350Human1name
151817579CV1427452single nucleotide variantNM_015158.5(KANK1):c.3689C>G (p.Ala1230Gly)not provided [RCV001878900]uncertain significance9740927740927Humanname
151873533CV1430320single nucleotide variantNM_015158.5(KANK1):c.3037T>A (p.Ser1013Thr)not provided [RCV002035977]uncertain significance9732409732409Humanname
151769764CV1451045single nucleotide variantNM_015158.5(KANK1):c.3991T>C (p.Ser1331Pro)not provided [RCV001929404]uncertain significance9744584744584Humanname
151806144CV1453398single nucleotide variantNM_015158.5(KANK1):c.3741A>G (p.Ile1247Met)not provided [RCV001877821]|not specified [RCV005350695]uncertain significance9742249742249Humanname
151761904CV1455947single nucleotide variantNM_015158.5(KANK1):c.3994C>G (p.Pro1332Ala)not provided [RCV002044378]uncertain significance9744587744587Humanname
151839964CV1462894single nucleotide variantNM_015158.5(KANK1):c.3050C>A (p.Ser1017Tyr)not provided [RCV002031701]uncertain significance9732422732422Humanname
151839985CV1462897single nucleotide variantNM_015158.5(KANK1):c.3068A>G (p.Asp1023Gly)not provided [RCV002031703]uncertain significance9732440732440Humanname
151779928CV1473915single nucleotide variantNM_015158.5(KANK1):c.3371G>A (p.Arg1124His)not provided [RCV001864868]|not specified [RCV004039715]conflicting interpretations of pathogenicity|uncertain significance9738322738322Humanname
151852111CV1476096single nucleotide variantNM_015158.5(KANK1):c.3374T>C (p.Val1125Ala)not provided [RCV001996099]|not specified [RCV005350842]likely benign|uncertain significance9738325738325Humanname
151777503CV1493165single nucleotide variantNM_015158.5(KANK1):c.3350C>T (p.Thr1117Ile)not provided [RCV001915568]uncertain significance9738301738301Humanname
151778881CV1496657single nucleotide variantNM_015158.5(KANK1):c.3608C>T (p.Ala1203Val)Cerebral palsy, spastic quadriplegic, 2 [RCV002503569]|not provided [RCV001930241]uncertain significance9740846740846Human1name
151810311CV1497271single nucleotide variantNM_015158.5(KANK1):c.3067G>A (p.Asp1023Asn)not provided [RCV001974703]|not specified [RCV004042948]uncertain significance9732439732439Humanname
151719988CV1498217single nucleotide variantNM_015158.5(KANK1):c.3757C>T (p.Leu1253Phe)not provided [RCV001965823]uncertain significance9742265742265Humanname
151723941CV1500370single nucleotide variantNM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln)Cerebral palsy, spastic quadriplegic, 2 [RCV002490250]|not provided [RCV001910104]uncertain significance9738477738477Human1name
151824610CV1506976single nucleotide variantNM_015158.5(KANK1):c.3619G>C (p.Ala1207Pro)not provided [RCV001955097]uncertain significance9740857740857Humanname
151828285CV1510106single nucleotide variantNM_015158.5(KANK1):c.3815T>C (p.Met1272Thr)not provided [RCV001920237]uncertain significance9742323742323Humanname
152103255CV1574587single nucleotide variantNM_015158.5(KANK1):c.3722C>T (p.Ala1241Val)not provided [RCV002095806]likely benign9742230742230Humanname
152042218CV1603401single nucleotide variantNM_015158.5(KANK1):c.3484G>A (p.Gly1162Ser)not provided [RCV002071168]likely benign9738435738435Humanname
155685941CV1771086single nucleotide variantNM_015158.5(KANK1):c.3685A>C (p.Lys1229Gln)not provided [RCV002298965]uncertain significance9740923740923Humanname
155743359CV1777501single nucleotide variantNM_015158.5(KANK1):c.3514C>A (p.His1172Asn)not provided [RCV002302992]uncertain significance9738465738465Humanname
155748986CV1779033single nucleotide variantNM_015158.5(KANK1):c.3091C>T (p.Pro1031Ser)not provided [RCV002304135]uncertain significance9732463732463Humanname
156398817CV1881176single nucleotide variantNM_015158.5(KANK1):c.3106G>A (p.Glu1036Lys)not provided [RCV003068929]uncertain significance9732478732478Humanname
156093656CV1895756single nucleotide variantNM_015158.5(KANK1):c.3467A>G (p.Asn1156Ser)not provided [RCV003080319]|not specified [RCV004073181]uncertain significance9738418738418Humanname
156025969CV1896262single nucleotide variantNM_015158.5(KANK1):c.3694C>G (p.Gln1232Glu)not provided [RCV003100426]uncertain significance9740932740932Humanname
156316521CV1901262single nucleotide variantNM_015158.5(KANK1):c.3526G>A (p.Glu1176Lys)not provided [RCV002578981]|not specified [RCV004073425]uncertain significance9738477738477Humanname
155953671CV1915199single nucleotide variantNM_015158.5(KANK1):c.3886C>G (p.Leu1296Val)not provided [RCV002616360]uncertain significance9742394742394Humanname
156352323CV1923539single nucleotide variantNM_015158.5(KANK1):c.3217G>C (p.Glu1073Gln)not provided [RCV002650986]|not specified [RCV004070739]likely benign|uncertain significance9732589732589Humanname
156434573CV1940117single nucleotide variantNM_015158.5(KANK1):c.3643C>T (p.Arg1215Trp)not provided [RCV003104529]uncertain significance9740881740881Humanname
156054442CV1945142single nucleotide variantNM_015158.5(KANK1):c.3131G>A (p.Arg1044Gln)not provided [RCV003111733]|not specified [RCV004197400]uncertain significance9732503732503Humanname
156447465CV1945419single nucleotide variantNM_015158.5(KANK1):c.3931G>A (p.Ala1311Thr)not provided [RCV003118993]uncertain significance9744524744524Humanname
156328433CV1953131single nucleotide variantNM_015158.5(KANK1):c.3832G>A (p.Gly1278Arg)Cerebral palsy, spastic quadriplegic, 2 [RCV003989771]|not provided [RCV002579857]|not specified [RCV004927818]uncertain significance9742340742340Human1name
156385079CV1961171single nucleotide variantNM_015158.5(KANK1):c.3050C>T (p.Ser1017Phe)not provided [RCV002583430]uncertain significance9732422732422Humanname
156314160CV1966638single nucleotide variantNM_015158.5(KANK1):c.3416A>G (p.Tyr1139Cys)KANK1-related disorder [RCV004534135]|not provided [RCV002578857]uncertain significance9738367738367Human1name , trait , alternate_id
156251483CV1993418single nucleotide variantNM_015158.5(KANK1):c.3412G>T (p.Asp1138Tyr)not provided [RCV002627465]uncertain significance9738363738363Humanname
156245669CV1996556single nucleotide variantNM_015158.5(KANK1):c.3959T>C (p.Leu1320Pro)not provided [RCV002668083]uncertain significance9744552744552Humanname
156149757CV2003136single nucleotide variantNM_015158.5(KANK1):c.3247T>C (p.Tyr1083His)not provided [RCV002663855]uncertain significance9734749734749Humanname
156097196CV2004695single nucleotide variantNM_015158.5(KANK1):c.3443C>G (p.Pro1148Arg)not provided [RCV002639443]uncertain significance9738394738394Humanname
155912426CV2011058single nucleotide variantNM_015158.5(KANK1):c.3092C>T (p.Pro1031Leu)not provided [RCV002681818]uncertain significance9732464732464Humanname
156075782CV2011786single nucleotide variantNM_015158.5(KANK1):c.3477C>G (p.Asp1159Glu)not provided [RCV002705825]uncertain significance9738428738428Humanname
156395668CV2012243single nucleotide variantNM_015158.5(KANK1):c.3911C>T (p.Ala1304Val)not provided [RCV002725523]uncertain significance9744504744504Humanname
155906640CV2048213single nucleotide variantNM_015158.5(KANK1):c.3236T>A (p.Ile1079Asn)not provided [RCV002771302]uncertain significance9732608732608Humanname
10411788CV205467single nucleotide variantNM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys)Abnormality of neuronal migration [RCV000201344]benign|uncertain significance9744585744585Human1name
156091378CV2057039single nucleotide variantNM_015158.5(KANK1):c.3091C>G (p.Pro1031Ala)not provided [RCV002824198]uncertain significance9732463732463Humanname
155943818CV2062048single nucleotide variantNM_015158.5(KANK1):c.3710C>T (p.Ala1237Val)not provided [RCV002815862]uncertain significance9742218742218Humanname
156164723CV2091641single nucleotide variantNM_015158.5(KANK1):c.3871G>A (p.Gly1291Ser)not provided [RCV002891132]|not specified [RCV004066045]uncertain significance9742379742379Humanname
156309724CV2119909single nucleotide variantNM_015158.5(KANK1):c.3941A>G (p.Lys1314Arg)KANK1-related disorder [RCV004736234]|not provided [RCV002962549]uncertain significance9744534744534Human1name , trait , alternate_id
156223597CV2121695single nucleotide variantNM_015158.5(KANK1):c.3625G>A (p.Glu1209Lys)not provided [RCV002958240]|not specified [RCV004068045]uncertain significance9740863740863Humanname
155937689CV2125830single nucleotide variantNM_015158.5(KANK1):c.3448G>T (p.Val1150Phe)not provided [RCV002971066]|not specified [RCV004068159]uncertain significance9738399738399Humanname
156309445CV2133100single nucleotide variantNM_015158.5(KANK1):c.3736C>T (p.Arg1246Trp)not provided [RCV003011022]uncertain significance9742244742244Humanname
156265963CV2189216single nucleotide variantNM_015158.5(KANK1):c.3299T>C (p.Ile1100Thr)not provided [RCV003044284]uncertain significance9734801734801Humanname
156369220CV2190604single nucleotide variantNM_015158.5(KANK1):c.3686A>T (p.Lys1229Ile)not provided [RCV003066163]uncertain significance9740924740924Humanname
156384076CV2220277single nucleotide variantNM_015158.5(KANK1):c.3472G>A (p.Ala1158Thr)not specified [RCV004095705]uncertain significance9738423738423Humanname
155934099CV2229083single nucleotide variantNM_015158.5(KANK1):c.3955C>G (p.Leu1319Val)not specified [RCV004098854]uncertain significance9744548744548Humanname
156242933CV2231468single nucleotide variantNM_015158.5(KANK1):c.3980C>T (p.Ala1327Val)not specified [RCV004096540]uncertain significance9744573744573Humanname
156276472CV2255795single nucleotide variantNM_015158.5(KANK1):c.3641T>G (p.Met1214Arg)not specified [RCV004120169]uncertain significance9740879740879Humanname
156034321CV2256652single nucleotide variantNM_015158.5(KANK1):c.3298A>G (p.Ile1100Val)not provided [RCV003546889]|not specified [RCV004118834]uncertain significance9734800734800Humanname
155952558CV2264239single nucleotide variantNM_015158.5(KANK1):c.3881G>A (p.Gly1294Asp)not specified [RCV004138168]uncertain significance9742389742389Humanname
156283064CV2291791single nucleotide variantNM_015158.5(KANK1):c.3053C>A (p.Ser1018Tyr)not specified [RCV004158330]uncertain significance9732425732425Humanname
155941550CV2300870single nucleotide variantNM_015158.5(KANK1):c.3323G>C (p.Ser1108Thr)not specified [RCV004158073]uncertain significance9734825734825Humanname
156068945CV2320529single nucleotide variantNM_015158.5(KANK1):c.3620C>A (p.Ala1207Asp)not specified [RCV004172156]uncertain significance9740858740858Humanname
156356517CV2320802single nucleotide variantNM_015158.5(KANK1):c.3436A>T (p.Ile1146Phe)not specified [RCV004172638]uncertain significance9738387738387Humanname
155924582CV2352107single nucleotide variantNM_015158.5(KANK1):c.3213A>T (p.Glu1071Asp)not provided [RCV003561139]|not specified [RCV004191199]uncertain significance9732585732585Humanname
156345927CV2373001single nucleotide variantNM_015158.5(KANK1):c.4043G>A (p.Arg1348Gln)not provided [RCV003730367]|not specified [RCV004224032]uncertain significance9745219745219Humanname
156265878CV2389109single nucleotide variantNM_015158.5(KANK1):c.3100G>C (p.Glu1034Gln)not specified [RCV004235443]uncertain significance9732472732472Humanname
156160918CV2398229single nucleotide variantNM_015158.5(KANK1):c.3422C>G (p.Ala1141Gly)not specified [RCV004235143]uncertain significance9738373738373Humanname
329385878CV2458515single nucleotide variantNM_015158.5(KANK1):c.3103G>A (p.Glu1035Lys)not specified [RCV004268208]uncertain significance9732475732475Humanname
329402933CV2462037single nucleotide variantNM_015158.5(KANK1):c.3758T>G (p.Leu1253Arg)not specified [RCV004272215]uncertain significance9742266742266Humanname
329374653CV2464228single nucleotide variantNM_015158.5(KANK1):c.3890A>T (p.Glu1297Val)not specified [RCV004273903]uncertain significance9742398742398Humanname
329380172CV2466465single nucleotide variantNM_015158.5(KANK1):c.4040A>T (p.His1347Leu)not specified [RCV004274018]uncertain significance9745216745216Humanname
329388201CV2468757single nucleotide variantNM_015158.5(KANK1):c.3243G>C (p.Glu1081Asp)not specified [RCV004280077]uncertain significance9732615732615Humanname
401752537CV2682853single nucleotide variantNM_015158.5(KANK1):c.3220C>T (p.Pro1074Ser)not specified [RCV004283653]uncertain significance9732592732592Humanname
401732354CV2698292single nucleotide variantNM_015158.5(KANK1):c.3493G>A (p.Ala1165Thr)not specified [RCV004304841]uncertain significance9738444738444Humanname
401745069CV2698458single nucleotide variantNM_015158.5(KANK1):c.3577A>C (p.Asn1193His)not specified [RCV004298969]uncertain significance9740815740815Humanname
401769938CV2718958single nucleotide variantNM_015158.5(KANK1):c.3446A>G (p.Asp1149Gly)not specified [RCV004322551]uncertain significance9738397738397Humanname
401783865CV2724323single nucleotide variantNM_015158.5(KANK1):c.4033C>A (p.Pro1345Thr)not specified [RCV004328186]uncertain significance9745209745209Humanname
11635990CV274627single nucleotide variantNM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp)Cerebral palsy, spastic quadriplegic, 2 [RCV002494893]|not provided [RCV000259968]uncertain significance9732502732502Human1name
401862601CV2762260single nucleotide variantNM_015158.5(KANK1):c.3058G>A (p.Glu1020Lys)not provided [RCV003777515]|not specified [RCV004335382]uncertain significance9732430732430Humanname
401896306CV2773879single nucleotide variantNM_015158.5(KANK1):c.3285A>C (p.Leu1095Phe)not specified [RCV004358315]uncertain significance9734787734787Humanname
401910927CV2828717single nucleotide variantNM_015158.5(KANK1):c.3478G>A (p.Gly1160Ser)not provided [RCV003425597]uncertain significance9738429738429Humanname
401924253CV2828718single nucleotide variantNM_015158.5(KANK1):c.4003C>T (p.Pro1335Ser)not provided [RCV003435678]uncertain significance9745179745179Humanname
402495823CV2875254single nucleotide variantNM_015158.5(KANK1):c.3445G>C (p.Asp1149His)not provided [RCV003545410]|not specified [RCV005363132]likely benign|uncertain significance9738396738396Humanname
405124685CV2889409single nucleotide variantNM_015158.5(KANK1):c.3732C>A (p.His1244Gln)not provided [RCV003559363]uncertain significance9742240742240Humanname
405026057CV2889823single nucleotide variantNM_015158.5(KANK1):c.3391G>C (p.Ala1131Pro)not provided [RCV003577989]uncertain significance9738342738342Humanname
402524134CV2900120single nucleotide variantNM_015158.5(KANK1):c.3902G>A (p.Gly1301Asp)not provided [RCV003575955]|not specified [RCV004369323]uncertain significance9744495744495Humanname
405055499CV2931953single nucleotide variantNM_015158.5(KANK1):c.3020C>G (p.Ser1007Ter)not provided [RCV003580101]uncertain significance9732392732392Humanname
405100426CV2938239single nucleotide variantNM_015158.5(KANK1):c.3148C>T (p.His1050Tyr)not provided [RCV003665872]uncertain significance9732520732520Humanname
405159473CV2956707single nucleotide variantNM_015158.5(KANK1):c.3932C>T (p.Ala1311Val)not provided [RCV003674506]uncertain significance9744525744525Humanname
405147607CV2960105single nucleotide variantNM_015158.5(KANK1):c.3901G>A (p.Gly1301Ser)not provided [RCV003669815]uncertain significance9744494744494Humanname
405189750CV2968492single nucleotide variantNM_015158.5(KANK1):c.3949G>T (p.Ala1317Ser)not provided [RCV003677095]uncertain significance9744542744542Humanname
405216356CV2975297single nucleotide variantNM_015158.5(KANK1):c.3548A>T (p.Asp1183Val)not provided [RCV003679971]uncertain significance9738499738499Humanname
405036376CV3016793single nucleotide variantNM_015158.5(KANK1):c.3090T>A (p.Tyr1030Ter)not provided [RCV003695976]uncertain significance9732462732462Humanname
405180347CV3027676single nucleotide variantNM_015158.5(KANK1):c.3508G>T (p.Val1170Leu)not provided [RCV003705384]uncertain significance9738459738459Humanname
405175089CV3052655single nucleotide variantNM_015158.5(KANK1):c.3398C>T (p.Pro1133Leu)not provided [RCV003728246]|not specified [RCV005363231]likely benign|uncertain significance9738349738349Humanname
405155243CV3064759single nucleotide variantNM_015158.5(KANK1):c.3737G>A (p.Arg1246Gln)not provided [RCV003726698]uncertain significance9742245742245Humanname
405175230CV3123005single nucleotide variantNM_015158.5(KANK1):c.3161A>C (p.Asn1054Thr)not provided [RCV003819403]uncertain significance9732533732533Humanname
405142704CV3125911single nucleotide variantNM_015158.5(KANK1):c.3448G>A (p.Val1150Ile)not provided [RCV003816826]uncertain significance9738399738399Humanname
404977187CV3127082single nucleotide variantNM_015158.5(KANK1):c.3994C>T (p.Pro1332Ser)not provided [RCV003825305]uncertain significance9744587744587Humanname
405125484CV3132699single nucleotide variantNM_015158.5(KANK1):c.3050C>G (p.Ser1017Cys)not provided [RCV003837862]|not specified [RCV005363281]likely benign|uncertain significance9732422732422Humanname
405218310CV3135695single nucleotide variantNM_015158.5(KANK1):c.3616G>A (p.Ala1206Thr)not provided [RCV003824320]uncertain significance9740854740854Humanname
405044287CV3141542single nucleotide variantNM_015158.5(KANK1):c.3573C>G (p.His1191Gln)not provided [RCV003831643]uncertain significance9740811740811Humanname
405044306CV3141543single nucleotide variantNM_015158.5(KANK1):c.3640A>C (p.Met1214Leu)not provided [RCV003831644]uncertain significance9740878740878Humanname
405209475CV3145736single nucleotide variantNM_015158.5(KANK1):c.3649G>A (p.Val1217Met)not provided [RCV003845466]uncertain significance9740887740887Humanname
405197266CV3146721single nucleotide variantNM_015158.5(KANK1):c.3525C>A (p.Phe1175Leu)not provided [RCV003844076]uncertain significance9738476738476Humanname
405230833CV3153944single nucleotide variantNM_015158.5(KANK1):c.3631G>A (p.Glu1211Lys)not provided [RCV003848812]uncertain significance9740869740869Humanname
404991320CV3176223single nucleotide variantNM_015158.5(KANK1):c.3428T>C (p.Phe1143Ser)not provided [RCV003881548]uncertain significance9738379738379Humanname
405264429CV3190008single nucleotide variantNM_015158.5(KANK1):c.3707C>T (p.Thr1236Met)KANK1-related disorder [RCV004534470]uncertain significance9742215742215Humanname , trait , alternate_id
405285443CV3212472single nucleotide variantNM_015158.5(KANK1):c.3133G>A (p.Gly1045Arg)KANK1-related disorder [RCV004544062]|not provided [RCV005064865]uncertain significance9732505732505Human1name , trait , alternate_id
405801586CV3271805single nucleotide variantNM_015158.5(KANK1):c.3122A>G (p.Glu1041Gly)not specified [RCV004403503]uncertain significance9732494732494Humanname
405801591CV3271807single nucleotide variantNM_015158.5(KANK1):c.3387G>C (p.Lys1129Asn)not specified [RCV004403505]uncertain significance9738338738338Humanname
405801593CV3271808single nucleotide variantNM_015158.5(KANK1):c.3607G>A (p.Ala1203Thr)not specified [RCV004403506]uncertain significance9740845740845Humanname
405801595CV3271809single nucleotide variantNM_015158.5(KANK1):c.3611C>T (p.Ala1204Val)not specified [RCV004403507]uncertain significance9740849740849Humanname
407467285CV3448226single nucleotide variantNM_015158.5(KANK1):c.3637G>A (p.Asp1213Asn)not specified [RCV004635854]uncertain significance9740875740875Humanname
407467289CV3448227single nucleotide variantNM_015158.5(KANK1):c.3496C>G (p.Leu1166Val)not specified [RCV004635855]uncertain significance9738447738447Humanname
407467302CV3448230single nucleotide variantNM_015158.5(KANK1):c.3692G>A (p.Ser1231Asn)not specified [RCV004635858]uncertain significance9740930740930Humanname
407467316CV3448233single nucleotide variantNM_015158.5(KANK1):c.4020G>T (p.Lys1340Asn)not specified [RCV004635861]uncertain significance9745196745196Humanname
597778124CV3691576single nucleotide variantNM_015158.5(KANK1):c.3644G>A (p.Arg1215Gln)not specified [RCV004930055]likely benign9740882740882Humanname
597778133CV3691578single nucleotide variantNM_015158.5(KANK1):c.3800G>A (p.Gly1267Asp)not specified [RCV004930057]uncertain significance9742308742308Humanname
597778142CV3691580single nucleotide variantNM_015158.5(KANK1):c.3814A>G (p.Met1272Val)not specified [RCV004930059]uncertain significance9742322742322Humanname
597778155CV3691583single nucleotide variantNM_015158.5(KANK1):c.3701G>A (p.Gly1234Glu)not specified [RCV004930062]uncertain significance9742209742209Humanname
597778170CV3691587single nucleotide variantNM_015158.5(KANK1):c.3114G>C (p.Glu1038Asp)not specified [RCV004930066]uncertain significance9732486732486Humanname
597844802CV3736177single nucleotide variantNM_015158.5(KANK1):c.3712C>G (p.Leu1238Val)not provided [RCV005065525]uncertain significance9742220742220Humanname
597919841CV3738007single nucleotide variantNM_015158.5(KANK1):c.3574C>G (p.Gln1192Glu)not provided [RCV005074606]uncertain significance9740812740812Humanname
597969991CV3753478single nucleotide variantNM_015158.5(KANK1):c.3182C>G (p.Ala1061Gly)not provided [RCV005083963]uncertain significance9732554732554Humanname
597832940CV3760347single nucleotide variantNM_015158.5(KANK1):c.3868C>G (p.Pro1290Ala)not provided [RCV005085090]uncertain significance9742376742376Humanname
597858520CV3769640single nucleotide variantNM_015158.5(KANK1):c.3889G>C (p.Glu1297Gln)not provided [RCV005105682]uncertain significance9742397742397Humanname
597931605CV3780384single nucleotide variantNM_015158.5(KANK1):c.3092C>G (p.Pro1031Arg)not provided [RCV005116704]uncertain significance9732464732464Humanname
597931613CV3780385single nucleotide variantNM_015158.5(KANK1):c.3161A>T (p.Asn1054Ile)not provided [RCV005116705]uncertain significance9732533732533Humanname
597882767CV3784149single nucleotide variantNM_015158.5(KANK1):c.3311A>G (p.Lys1104Arg)not provided [RCV005124437]uncertain significance9734813734813Humanname
597906403CV3785137single nucleotide variantNM_015158.5(KANK1):c.3281A>C (p.Asn1094Thr)not provided [RCV005127980]uncertain significance9734783734783Humanname
597971156CV3802464single nucleotide variantNM_015158.5(KANK1):c.3506G>C (p.Ser1169Thr)not provided [RCV005142062]uncertain significance9738457738457Humanname
597956309CV3809664single nucleotide variantNM_015158.5(KANK1):c.3317T>G (p.Leu1106Trp)not provided [RCV005162390]uncertain significance9734819734819Humanname
597862580CV3822682single nucleotide variantNM_015158.5(KANK1):c.3990G>C (p.Gln1330His)not provided [RCV005175214]uncertain significance9744583744583Humanname
597918037CV3842190single nucleotide variantNM_015158.5(KANK1):c.3536A>G (p.Lys1179Arg)not provided [RCV005183865]uncertain significance9738487738487Humanname
597897708CV3854419single nucleotide variantNM_015158.5(KANK1):c.3335G>C (p.Arg1112Thr)not provided [RCV005201526]uncertain significance9738286738286Humanname
12858896CV389139single nucleotide variantNM_015158.5(KANK1):c.3237C>G (p.Ile1079Met)Abnormal brain morphology [RCV000454209]likely pathogenic9732609732609Human1name
598233898CV3979877single nucleotide variantNM_015158.5(KANK1):c.3923C>T (p.Ala1308Val)not specified [RCV005363430]uncertain significance9744516744516Humanname
598233921CV3979887single nucleotide variantNM_015158.5(KANK1):c.3564T>A (p.Asn1188Lys)not specified [RCV005363434]uncertain significance9740802740802Humanname
616939505CV4013999single nucleotide variantNM_015158.5(KANK1):c.3995C>A (p.Pro1332Gln)not provided [RCV005413491]uncertain significance9744588744588Humanname
617152429CV4018073single nucleotide variantNM_015158.5(KANK1):c.3418A>C (p.Ile1140Leu)not specified [RCV005417863]uncertain significance9738369738369Humanname
13509712CV481860single nucleotide variantNM_015158.5(KANK1):c.3202C>T (p.Gln1068Ter)not provided [RCV000578682]uncertain significance9732574732574Humanname
13832371CV582865single nucleotide variantNM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter)not provided [RCV000723058]uncertain significance9738312738312Humanname
13832372CV582866single nucleotide variantNM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter)not provided [RCV000723059]uncertain significance9732484732484Humanname
15158639CV712014single nucleotide variantNM_015158.5(KANK1):c.3647T>C (p.Ile1216Thr)not provided [RCV000969554]benign|likely benign9740885740885Humanname
15123368CV712015single nucleotide variantNM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser)KANK1-related disorder [RCV004535927]|Rare genetic intellectual disability [RCV001257027]|not provided [RCV000963228]likely benign|uncertain significance9742280742280Human1name , trait , alternate_id
15156054CV712016single nucleotide variantNM_015158.5(KANK1):c.3878A>G (p.Asn1293Ser)KANK1-related disorder [RCV004535950]|not provided [RCV000969038]likely benign9742386742386Human1name , trait , alternate_id
151754178CV1343097microsatelliteNM_015158.5(KANK1):c.590CTT[1] (p.Ser198del)Cerebral palsy, spastic quadriplegic, 2 [RCV002486753]|not provided [RCV002043589]uncertain significance9711356711358Humanname
156211982CV2028455duplicationNM_015158.5(KANK1):c.504_514dup (p.Met172fs)not provided [RCV002711798]uncertain significance9711268711269Humanname
401902524CV2802106indelNM_015158.5(KANK1):c.1_2delinsTG (p.Met1Trp)KANK1-related disorder [RCV004534232]uncertain significance9676973676974Humanname , trait , alternate_id
405128049CV2893214microsatelliteNM_015158.5(KANK1):c.297CAA[1] (p.Asn100del)not provided [RCV003559767]uncertain significance9711062711064Humanname
151744546CV1428032microsatelliteNM_015158.5(KANK1):c.2610GTC[1] (p.Ser872del)not provided [RCV001926813]uncertain significance9713376713378Humanname
152173691CV1655758microsatelliteNM_015158.5(KANK1):c.3105GGA[4] (p.Glu1039del)KANK1-related disorder [RCV004545241]|not provided [RCV002184260]likely benign9732475732477Humanname , trait , alternate_id
156166313CV1971518microsatelliteNM_015158.5(KANK1):c.3099AGA[1] (p.Glu1039del)not provided [RCV002594635]likely benign9732469732471Humanname
597899295CV3740923deletionNM_015158.5(KANK1):c.2910_2913del (p.Asn970fs)not provided [RCV005072086]uncertain significance9731169731172Humanname
13521224CV495426deletionNM_015158.5(KANK1):c.1469_1470del (p.Gln490fs)not provided [RCV000599285]uncertain significance9712235712236Humanname
15180814CV712011microsatelliteNM_015158.5(KANK1):c.3105GGA[6] (p.Glu1039dup)KANK1-related disorder [RCV004535980]|not provided [RCV000974242]likely benign9732474732475Humanname , trait , alternate_id
151802880CV1354423deletionNM_015158.5(KANK1):c.1818_1820del (p.Glu608del)Cerebral palsy, spastic quadriplegic, 2 [RCV002478123]|not provided [RCV001867286]uncertain significance9712584712586Human1name
151860720CV1374105deletionNM_015158.5(KANK1):c.1867_1869del (p.Lys623del)not provided [RCV001938506]uncertain significance9712633712635Humanname
405126400CV2882790deletionNM_015158.5(KANK1):c.1485_1487del (p.Gly496del)not provided [RCV003559611]uncertain significance9712251712253Humanname
405213340CV3142661microsatelliteNM_015158.5(KANK1):c.3244_3245del (p.Arg1082fs)not provided [RCV003846018]uncertain significance9732610732611Humanname
13832369CV582863duplicationNM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3])not provided [RCV000723056]uncertain significance9732486732487Humanname
151731149CV1425766deletionNM_015158.5(KANK1):c.3634_3636del (p.Lys1212del)Cerebral palsy, spastic quadriplegic, 2 [RCV002492104]|not provided [RCV002004788]uncertain significance9740870740872Human1name
156117065CV2017094deletionNM_015158.5(KANK1):c.3776_3778del (p.Asp1259del)not provided [RCV002740055]uncertain significance9742282742284Humanname
151793675CV1372471microsatelliteNM_015158.5(KANK1):c.4059_*3dup (p.Phe1351_Ter1353=)not provided [RCV001973282]uncertain significance9745227745228Humanname
151709624CV1409322microsatelliteNM_015158.5(KANK1):c.3105GGA[3] (p.Glu1038_Glu1039del)not provided [RCV001907714]uncertain significance9732475732480Humanname
151744448CV1427766microsatelliteNM_015158.5(KANK1):c.3105GGA[7] (p.Glu1038_Glu1039dup)not provided [RCV001893611]uncertain significance9732474732475Humanname
152025868CV1627673duplicationNM_015158.5(KANK1):c.1277_1282dup (p.Ala426_Val427dup)KANK1-related disorder [RCV004543856]|not provided [RCV002104356]benign|likely benign9712040712041Human1name , trait , alternate_id
597898538CV3740835deletionNM_015158.5(KANK1):c.1130_1138del (p.Leu377_Lys380delinsGln)not provided [RCV005071998]uncertain significance9711896711904Humanname
597831568CV3830815indelNM_015158.5(KANK1):c.633_634delinsTA (p.Gln211_Leu212delinsHisIle)not provided [RCV005170213]uncertain significance9711399711400Humanname
401906105CV2802390duplicationNM_015158.3:c.3554_3556dupATGKANK1-related condition [RCV003421046]uncertain significanceHumantrait