| 405290360 | CV3221522 | single nucleotide variant | NM_015158.5(KANK1):c.*8C>G | KANK1-related disorder [RCV004540751] | likely benign | 9 | 745243 | 745243 | Human | | name , trait , alternate_id |
| 150517207 | CV1226655 | single nucleotide variant | NM_015158.5(KANK1):c.-19T>C | not provided [RCV001639749] | benign | 9 | 676954 | 676954 | Human | | name |
| 150441912 | CV1264350 | single nucleotide variant | NM_015158.5(KANK1):c.*54C>T | not provided [RCV001679333] | benign | 9 | 745289 | 745289 | Human | | name |
| 150468359 | CV1267925 | single nucleotide variant | NM_015158.5(KANK1):c.*178A>G | not provided [RCV001694788] | benign | 9 | 745413 | 745413 | Human | | name |
| 150535905 | CV1309044 | single nucleotide variant | NM_015158.5(KANK1):c.*195G>A | not provided [RCV001759251] | likely benign | 9 | 745430 | 745430 | Human | | name |
| 401924247 | CV2828714 | single nucleotide variant | NM_015158.5(KANK1):c.38-2A>T | not provided [RCV003435675] | uncertain significance | 9 | 710802 | 710802 | Human | | name |
| 405235567 | CV2976588 | single nucleotide variant | NM_015158.5(KANK1):c.37+9G>C | not provided [RCV003683020] | likely benign | 9 | 677018 | 677018 | Human | | name |
| 150451970 | CV1232871 | single nucleotide variant | NM_015158.5(KANK1):c.37+80G>A | not provided [RCV001647946] | benign | 9 | 677089 | 677089 | Human | | name |
| 405240071 | CV2993593 | single nucleotide variant | NM_015158.5(KANK1):c.38-16T>G | not provided [RCV003719009] | likely benign | 9 | 710788 | 710788 | Human | | name |
| 597878671 | CV3783147 | single nucleotide variant | NM_015158.5(KANK1):c.37+11G>C | not provided [RCV005123849] | likely benign | 9 | 677020 | 677020 | Human | | name |
| 150516192 | CV1216473 | single nucleotide variant | NM_015158.5(KANK1):c.38-174C>A | not provided [RCV001608664] | benign | 9 | 710630 | 710630 | Human | | name |
| 150475487 | CV1237801 | single nucleotide variant | NM_015158.5(KANK1):c.38-164C>A | not provided [RCV001651922] | benign | 9 | 710640 | 710640 | Human | | name |
| 150444447 | CV1249419 | single nucleotide variant | NM_015158.5(KANK1):c.37+132A>G | not provided [RCV001666851] | benign | 9 | 677141 | 677141 | Human | | name |
| 150487993 | CV1251604 | single nucleotide variant | NM_015158.5(KANK1):c.-83-70A>G | not provided [RCV001674275] | benign | 9 | 676820 | 676820 | Human | | name |
| 150445361 | CV1269422 | deletion | NM_015158.5(KANK1):c.38-174del | not provided [RCV001691110] | benign | 9 | 710630 | 710630 | Human | | name |
| 150484630 | CV1273853 | deletion | NM_015158.5(KANK1):c.38-164del | not provided [RCV001698538] | benign | 9 | 710640 | 710640 | Human | | name |
| 150541468 | CV1306372 | single nucleotide variant | NM_015158.5(KANK1):c.38-151C>T | not provided [RCV001767994] | likely benign | 9 | 710653 | 710653 | Human | | name |
| 150545303 | CV1307717 | single nucleotide variant | NM_015158.5(KANK1):c.37+202C>G | not provided [RCV001774995] | likely benign | 9 | 677211 | 677211 | Human | | name |
| 150542382 | CV1307751 | deletion | NM_015158.5(KANK1):c.3554-5del | not provided [RCV001769526] | likely benign | 9 | 740770 | 740770 | Human | | name |
| 150539408 | CV1308776 | single nucleotide variant | NM_015158.5(KANK1):c.38-178A>C | not provided [RCV001766280] | likely benign | 9 | 710626 | 710626 | Human | | name |
| 151871896 | CV1436699 | single nucleotide variant | NM_015158.5(KANK1):c.3897+6C>T | KANK1-related disorder [RCV004538705]|not provided [RCV001998454] | likely benign|uncertain significance | 9 | 742411 | 742411 | Human | 1 | name , trait , alternate_id |
| 151791253 | CV1489944 | single nucleotide variant | NM_015158.5(KANK1):c.2896+2T>G | Cerebral palsy, spastic quadriplegic, 2 [RCV002479419]|not provided [RCV001952071] | uncertain significance | 9 | 730250 | 730250 | Human | 1 | name |
| 152161531 | CV1619448 | single nucleotide variant | NM_015158.5(KANK1):c.3696+8C>T | Cerebral palsy, spastic quadriplegic, 2 [RCV002479851]|KANK1-related disorder [RCV004538776]|not provided [RCV002159726] | likely benign | 9 | 740942 | 740942 | Human | 1 | name , trait , alternate_id |
| 152044622 | CV1637876 | single nucleotide variant | NM_015158.5(KANK1):c.3005+9A>T | Cerebral palsy, spastic quadriplegic, 2 [RCV002480969]|KANK1-related disorder [RCV004531424]|not provided [RCV002144941] | benign|likely benign | 9 | 731275 | 731275 | Human | 1 | name , trait , alternate_id |
| 152149078 | CV1642719 | single nucleotide variant | NM_015158.5(KANK1):c.3245+9C>T | Cerebral palsy, spastic quadriplegic, 2 [RCV002486990]|KANK1-related disorder [RCV004545235]|not provided [RCV002179170] | likely benign | 9 | 732626 | 732626 | Human | 1 | name , trait , alternate_id |
| 156210737 | CV1909733 | single nucleotide variant | NM_015158.5(KANK1):c.3697-7C>T | not provided [RCV002596053] | likely benign | 9 | 742198 | 742198 | Human | | name |
| 156449124 | CV1944383 | single nucleotide variant | NM_015158.5(KANK1):c.2699-6T>C | not provided [RCV003121236] | likely benign | 9 | 730045 | 730045 | Human | | name |
| 156161648 | CV1981243 | single nucleotide variant | NM_015158.5(KANK1):c.2896+8T>A | not provided [RCV002642430] | likely benign | 9 | 730256 | 730256 | Human | | name |
| 11525896 | CV247039 | single nucleotide variant | NM_015158.5(KANK1):c.3554-5T>A | not provided [RCV000969037]|not specified [RCV000239038] | likely benign|uncertain significance | 9 | 740787 | 740787 | Human | | name |
| 401856377 | CV2752459 | single nucleotide variant | NM_015158.5(KANK1):c.3333+1G>A | Cerebral palsy, spastic quadriplegic, 2 [RCV003340797] | uncertain significance | 9 | 734836 | 734836 | Human | 1 | name |
| 401924251 | CV2828716 | single nucleotide variant | NM_015158.5(KANK1):c.3334-3C>T | not provided [RCV003435677] | likely benign | 9 | 738282 | 738282 | Human | | name |
| 402491529 | CV2877715 | single nucleotide variant | NM_015158.5(KANK1):c.3333+3G>A | not provided [RCV003544991] | uncertain significance | 9 | 734838 | 734838 | Human | | name |
| 405132826 | CV3021999 | single nucleotide variant | NM_015158.5(KANK1):c.2896+6T>G | not provided [RCV003701824] | uncertain significance | 9 | 730254 | 730254 | Human | | name |
| 405041831 | CV3141094 | single nucleotide variant | NM_015158.5(KANK1):c.3897+1G>A | not provided [RCV003831387] | uncertain significance | 9 | 742406 | 742406 | Human | | name |
| 597937907 | CV3760009 | single nucleotide variant | NM_015158.5(KANK1):c.2699-5G>C | not provided [RCV005076933] | likely benign | 9 | 730046 | 730046 | Human | | name |
| 15172637 | CV730648 | duplication | NM_015158.5(KANK1):c.3554-4dup | not provided [RCV000883880] | benign|likely benign | 9 | 740787 | 740788 | Human | | name |
| 15158819 | CV777757 | single nucleotide variant | NM_015158.5(KANK1):c.3553+5G>A | not provided [RCV000947148] | benign | 9 | 738509 | 738509 | Human | | name |
| 15198223 | CV777827 | single nucleotide variant | NM_015158.5(KANK1):c.3333+4A>C | not provided [RCV000956690] | benign | 9 | 734839 | 734839 | Human | | name |
| 15146120 | CV779450 | single nucleotide variant | NM_015158.5(KANK1):c.3696+4A>G | not provided [RCV000967112] | benign|likely benign | 9 | 740938 | 740938 | Human | | name |
| 127312376 | CV1156254 | single nucleotide variant | NM_015158.5(KANK1):c.3245+12T>C | Cerebral palsy, spastic quadriplegic, 2 [RCV002495819]|not provided [RCV001518923] | benign|likely benign | 9 | 732629 | 732629 | Human | 1 | name |
| 127320671 | CV1156255 | single nucleotide variant | NM_015158.5(KANK1):c.3333+19C>G | not provided [RCV001522749] | benign | 9 | 734854 | 734854 | Human | | name |
| 127321837 | CV1156259 | single nucleotide variant | NM_015158.5(KANK1):c.3997-17C>G | not provided [RCV001523247] | benign | 9 | 745156 | 745156 | Human | | name |
| 150337606 | CV1172008 | single nucleotide variant | NM_015158.5(KANK1):c.3554-31C>G | not provided [RCV001541756] | benign | 9 | 740761 | 740761 | Human | | name |
| 150332708 | CV1172009 | single nucleotide variant | NM_015158.5(KANK1):c.3696+38G>C | not provided [RCV001539155] | benign | 9 | 740972 | 740972 | Human | | name |
| 150510408 | CV1211650 | single nucleotide variant | NM_015158.5(KANK1):c.-83-198T>C | not provided [RCV001597442] | benign | 9 | 676692 | 676692 | Human | | name |
| 150443851 | CV1232932 | single nucleotide variant | NM_015158.5(KANK1):c.3005+66A>G | not provided [RCV001645604] | benign | 9 | 731332 | 731332 | Human | | name |
| 150445284 | CV1233151 | single nucleotide variant | NM_015158.5(KANK1):c.-83-186T>C | not provided [RCV001645824] | benign | 9 | 676704 | 676704 | Human | | name |
| 150497823 | CV1236423 | duplication | NM_015158.5(KANK1):c.3246-73dup | not provided [RCV001656148] | benign | 9 | 734665 | 734666 | Human | | name |
| 150475775 | CV1239786 | single nucleotide variant | NM_015158.5(KANK1):c.3334-47G>A | not provided [RCV001651963] | benign | 9 | 738238 | 738238 | Human | | name |
| 150506107 | CV1242133 | single nucleotide variant | NM_015158.5(KANK1):c.3696+83A>G | not provided [RCV001658486] | benign | 9 | 741017 | 741017 | Human | | name |
| 150440614 | CV1246601 | single nucleotide variant | NM_015158.5(KANK1):c.-83-321C>T | not provided [RCV001666254] | benign | 9 | 676569 | 676569 | Human | | name |
| 150443394 | CV1249275 | single nucleotide variant | NM_015158.5(KANK1):c.3006-76T>C | not provided [RCV001666707] | benign | 9 | 732302 | 732302 | Human | | name |
| 150437434 | CV1249868 | single nucleotide variant | NM_015158.5(KANK1):c.2896+90T>C | not provided [RCV001665782] | benign | 9 | 730338 | 730338 | Human | | name |
| 150488949 | CV1250461 | single nucleotide variant | NM_015158.5(KANK1):c.3246-69G>T | not provided [RCV001674423] | benign | 9 | 734679 | 734679 | Human | | name |
| 150487564 | CV1251544 | single nucleotide variant | NM_015158.5(KANK1):c.-83-145A>G | not provided [RCV001674215] | benign | 9 | 676745 | 676745 | Human | | name |
| 150472008 | CV1252177 | single nucleotide variant | NM_015158.5(KANK1):c.3245+87T>A | not provided [RCV001671378] | benign | 9 | 732704 | 732704 | Human | | name |
| 150467991 | CV1256985 | single nucleotide variant | NM_015158.5(KANK1):c.3696+67T>C | not provided [RCV001670631] | benign | 9 | 741001 | 741001 | Human | | name |
| 150456379 | CV1260004 | single nucleotide variant | NM_015158.5(KANK1):c.2699-79G>A | not provided [RCV001681483] | benign | 9 | 729972 | 729972 | Human | | name |
| 150458925 | CV1269715 | single nucleotide variant | NM_015158.5(KANK1):c.-83-149A>G | not provided [RCV001693255] | benign | 9 | 676741 | 676741 | Human | | name |
| 150475677 | CV1271226 | single nucleotide variant | NM_015158.5(KANK1):c.2699-83A>C | not provided [RCV001696049] | benign | 9 | 729968 | 729968 | Human | | name |
| 150446915 | CV1271940 | single nucleotide variant | NM_015158.5(KANK1):c.-83-319T>C | not provided [RCV001691354] | benign | 9 | 676571 | 676571 | Human | | name |
| 150514588 | CV1285253 | single nucleotide variant | NM_015158.5(KANK1):c.3898-73T>C | not provided [RCV001722706] | benign | 9 | 744418 | 744418 | Human | | name |
| 150535897 | CV1306316 | single nucleotide variant | NM_015158.5(KANK1):c.3334-35A>G | not provided [RCV001759244] | likely benign | 9 | 738250 | 738250 | Human | | name |
| 150535899 | CV1306317 | single nucleotide variant | NM_015158.5(KANK1):c.3897+84G>C | not provided [RCV001759245] | likely benign | 9 | 742489 | 742489 | Human | | name |
| 150541482 | CV1306380 | single nucleotide variant | NM_015158.5(KANK1):c.-83-244A>G | not provided [RCV001768002] | likely benign | 9 | 676646 | 676646 | Human | | name |
| 150542712 | CV1306581 | single nucleotide variant | NM_015158.5(KANK1):c.3996+34C>T | not provided [RCV001769645] | likely benign | 9 | 744623 | 744623 | Human | | name |
| 150535790 | CV1307089 | single nucleotide variant | NM_015158.5(KANK1):c.3697-86C>T | not provided [RCV001759144] | likely benign | 9 | 742119 | 742119 | Human | | name |
| 150535829 | CV1307125 | single nucleotide variant | NM_015158.5(KANK1):c.2896+89T>C | not provided [RCV001759180] | likely benign | 9 | 730337 | 730337 | Human | | name |
| 150536173 | CV1309168 | single nucleotide variant | NM_015158.5(KANK1):c.3005+83C>T | not provided [RCV001759375] | likely benign | 9 | 731349 | 731349 | Human | | name |
| 151864372 | CV1336826 | single nucleotide variant | NM_015158.5(KANK1):c.2699-85T>C | not provided [RCV002034862] | likely benign | 9 | 729966 | 729966 | Human | | name |
| 152037441 | CV1529598 | single nucleotide variant | NM_015158.5(KANK1):c.3897+19G>A | not provided [RCV002187744] | likely benign | 9 | 742424 | 742424 | Human | | name |
| 152139868 | CV1549751 | single nucleotide variant | NM_015158.5(KANK1):c.3245+18T>A | not provided [RCV002156622] | likely benign | 9 | 732635 | 732635 | Human | | name |
| 152128441 | CV1584134 | single nucleotide variant | NM_015158.5(KANK1):c.3697-17G>C | not provided [RCV002082537] | likely benign | 9 | 742188 | 742188 | Human | | name |
| 152118524 | CV1600540 | single nucleotide variant | NM_015158.5(KANK1):c.2698+11C>T | not provided [RCV002153956] | likely benign | 9 | 713475 | 713475 | Human | | name |
| 152036488 | CV1605311 | single nucleotide variant | NM_015158.5(KANK1):c.3996+15T>C | not provided [RCV002087294] | likely benign | 9 | 744604 | 744604 | Human | | name |
| 152130169 | CV1610525 | single nucleotide variant | NM_015158.5(KANK1):c.3006-12A>G | not provided [RCV002136823] | benign | 9 | 732366 | 732366 | Human | | name |
| 152070371 | CV1622831 | single nucleotide variant | NM_015158.5(KANK1):c.3697-10C>G | not provided [RCV002209899] | likely benign | 9 | 742195 | 742195 | Human | | name |
| 156406243 | CV1963533 | single nucleotide variant | NM_015158.5(KANK1):c.3246-13T>C | not provided [RCV002585839] | likely benign | 9 | 734735 | 734735 | Human | | name |
| 155913695 | CV2021859 | single nucleotide variant | NM_015158.5(KANK1):c.3334-13G>T | not provided [RCV002726988] | likely benign | 9 | 738272 | 738272 | Human | | name |
| 156246422 | CV2044750 | single nucleotide variant | NM_015158.5(KANK1):c.3006-16C>G | not provided [RCV002805859] | likely benign | 9 | 732362 | 732362 | Human | | name |
| 155971533 | CV2079250 | single nucleotide variant | NM_015158.5(KANK1):c.3245+15C>T | not provided [RCV002881511] | likely benign | 9 | 732632 | 732632 | Human | | name |
| 156350229 | CV2189563 | single nucleotide variant | NM_015158.5(KANK1):c.2896+13A>C | not provided [RCV003048275] | likely benign | 9 | 730261 | 730261 | Human | | name |
| 401727312 | CV2736281 | single nucleotide variant | NM_015158.5(KANK1):c.38-3361G>A | not provided [RCV003312729] | likely benign | 9 | 707443 | 707443 | Human | | name |
| 401924246 | CV2828713 | single nucleotide variant | NM_015158.5(KANK1):c.38-2535T>G | not provided [RCV003435674] | benign | 9 | 708269 | 708269 | Human | | name |
| 405168876 | CV2854101 | single nucleotide variant | NM_015158.5(KANK1):c.3246-13T>A | not provided [RCV003542005] | likely benign | 9 | 734735 | 734735 | Human | | name |
| 405120255 | CV2952195 | single nucleotide variant | NM_015158.5(KANK1):c.3553+11T>C | not provided [RCV003671346] | likely benign | 9 | 738515 | 738515 | Human | | name |
| 405244257 | CV3050538 | single nucleotide variant | NM_015158.5(KANK1):c.3697-10C>A | not provided [RCV003719937] | likely benign | 9 | 742195 | 742195 | Human | | name |
| 405195669 | CV3146534 | single nucleotide variant | NM_015158.5(KANK1):c.3006-13A>C | not provided [RCV003843889] | likely benign | 9 | 732365 | 732365 | Human | | name |
| 405236902 | CV3169035 | single nucleotide variant | NM_015158.5(KANK1):c.3333+17A>G | not provided [RCV003866314] | likely benign | 9 | 734852 | 734852 | Human | | name |
| 404991143 | CV3176281 | single nucleotide variant | NM_015158.5(KANK1):c.3997-19T>C | not provided [RCV003881606] | likely benign | 9 | 745154 | 745154 | Human | | name |
| 597921366 | CV3738378 | single nucleotide variant | NM_015158.5(KANK1):c.3996+12G>A | not provided [RCV005074784] | likely benign | 9 | 744601 | 744601 | Human | | name |
| 597908143 | CV3738987 | single nucleotide variant | NM_015158.5(KANK1):c.3553+20A>G | not provided [RCV005073222] | likely benign | 9 | 738524 | 738524 | Human | | name |
| 597965875 | CV3797154 | single nucleotide variant | NM_015158.5(KANK1):c.3553+14C>T | not provided [RCV005140113] | likely benign | 9 | 738518 | 738518 | Human | | name |
| 13462909 | CV439217 | single nucleotide variant | NM_015158.5(KANK1):c.2896+18C>T | not provided [RCV000515057] | benign|likely benign | 9 | 730266 | 730266 | Human | | name |
| 150336325 | CV1165002 | single nucleotide variant | NM_015158.5(KANK1):c.3006-323G>A | not provided [RCV001530794] | benign | 9 | 732055 | 732055 | Human | | name |
| 150339924 | CV1168188 | single nucleotide variant | NM_015158.5(KANK1):c.3246-103G>A | not provided [RCV001534753] | benign | 9 | 734645 | 734645 | Human | 1 | name |
| 150339924 | CV1168188 | single nucleotide variant | NM_015158.5(KANK1):c.3246-103G>A | not provided [RCV001534753] | benign | 9 | 734645 | 734646 | Human | 1 | name |
| 150336125 | CV1172007 | single nucleotide variant | NM_015158.5(KANK1):c.2896+242G>A | not provided [RCV001540852] | benign | 9 | 730490 | 730490 | Human | | name |
| 150504977 | CV1211506 | deletion | NM_015158.5(KANK1):c.3898-267del | not provided [RCV001595671] | benign | 9 | 744223 | 744223 | Human | | name |
| 150462410 | CV1214641 | single nucleotide variant | NM_015158.5(KANK1):c.3554-200G>C | not provided [RCV001613634] | benign | 9 | 740592 | 740592 | Human | | name |
| 150446956 | CV1215738 | single nucleotide variant | NM_015158.5(KANK1):c.2698+112A>T | not provided [RCV001611331] | benign | 9 | 713576 | 713576 | Human | | name |
| 150478600 | CV1218812 | duplication | NM_015158.5(KANK1):c.3898-246dup | not provided [RCV001616440] | benign | 9 | 744242 | 744243 | Human | | name |
| 150501943 | CV1224339 | single nucleotide variant | NM_015158.5(KANK1):c.3245+275G>C | not provided [RCV001620980] | benign | 9 | 732892 | 732892 | Human | | name |
| 150492812 | CV1225543 | single nucleotide variant | NM_015158.5(KANK1):c.3005+154G>T | not provided [RCV001619059] | benign | 9 | 731420 | 731420 | Human | | name |
| 150514209 | CV1228108 | single nucleotide variant | NM_015158.5(KANK1):c.2896+225T>G | not provided [RCV001638386] | benign | 9 | 730473 | 730473 | Human | | name |
| 150509048 | CV1229793 | single nucleotide variant | NM_015158.5(KANK1):c.3696+290C>G | not provided [RCV001636372] | benign | 9 | 741224 | 741224 | Human | | name |
| 150433837 | CV1230638 | single nucleotide variant | NM_015158.5(KANK1):c.3245+162A>G | not provided [RCV001643584] | benign | 9 | 732779 | 732779 | Human | | name |
| 150451046 | CV1232749 | single nucleotide variant | NM_015158.5(KANK1):c.3006-162C>T | not provided [RCV001647824] | benign | 9 | 732216 | 732216 | Human | | name |
| 150461736 | CV1234817 | single nucleotide variant | NM_015158.5(KANK1):c.2698+304T>A | not provided [RCV001649399] | benign | 9 | 713768 | 713768 | Human | | name |
| 150462579 | CV1234933 | single nucleotide variant | NM_015158.5(KANK1):c.3245+113C>G | not provided [RCV001649515] | benign | 9 | 732730 | 732730 | Human | | name |
| 150457940 | CV1237145 | single nucleotide variant | NM_015158.5(KANK1):c.2699-293G>A | not provided [RCV001648824] | benign | 9 | 729758 | 729758 | Human | | name |
| 150493926 | CV1238766 | single nucleotide variant | NM_015158.5(KANK1):c.3334-230T>C | not provided [RCV001655310] | benign | 9 | 738055 | 738055 | Human | | name |
| 150475782 | CV1239787 | single nucleotide variant | NM_015158.5(KANK1):c.2897-341G>A | not provided [RCV001651964] | benign | 9 | 730817 | 730817 | Human | | name |
| 150511099 | CV1242605 | single nucleotide variant | NM_015158.5(KANK1):c.2896+212G>A | not provided [RCV001660957] | benign | 9 | 730460 | 730460 | Human | | name |
| 150471010 | CV1248129 | single nucleotide variant | NM_015158.5(KANK1):c.3997-135T>A | not provided [RCV001671165] | benign | 9 | 745038 | 745038 | Human | | name |
| 150490348 | CV1251011 | deletion | NM_015158.5(KANK1):c.3696+314del | not provided [RCV001674678] | benign | 9 | 741248 | 741248 | Human | | name |
| 150448422 | CV1253549 | single nucleotide variant | NM_015158.5(KANK1):c.3996+148G>A | not provided [RCV001667477] | benign | 9 | 744737 | 744737 | Human | | name |
| 150501724 | CV1256378 | single nucleotide variant | NM_015158.5(KANK1):c.3696+150C>T | not provided [RCV001677002] | benign | 9 | 741084 | 741084 | Human | | name |
| 150460253 | CV1264144 | single nucleotide variant | NM_015158.5(KANK1):c.3696+127C>T | not provided [RCV001682060] | benign | 9 | 741061 | 741061 | Human | | name |
| 150442423 | CV1264430 | single nucleotide variant | NM_015158.5(KANK1):c.3696+253T>C | not provided [RCV001679413] | benign | 9 | 741187 | 741187 | Human | | name |
| 150469451 | CV1268100 | single nucleotide variant | NM_015158.5(KANK1):c.3554-320G>A | not provided [RCV001694963] | benign | 9 | 740472 | 740472 | Human | | name |
| 150462906 | CV1273077 | single nucleotide variant | NM_015158.5(KANK1):c.3006-159C>G | not provided [RCV001693834] | benign | 9 | 732219 | 732219 | Human | | name |
| 150452314 | CV1276715 | single nucleotide variant | NM_015158.5(KANK1):c.3897+237T>G | not provided [RCV001708504] | benign | 9 | 742642 | 742642 | Human | | name |
| 150465067 | CV1277178 | single nucleotide variant | NM_015158.5(KANK1):c.3696+107T>G | not provided [RCV001710472] | benign | 9 | 741041 | 741041 | Human | | name |
| 150466521 | CV1277419 | single nucleotide variant | NM_015158.5(KANK1):c.3245+283T>C | not provided [RCV001710714] | benign | 9 | 732900 | 732900 | Human | | name |
| 150514729 | CV1285301 | single nucleotide variant | NM_015158.5(KANK1):c.3333+254G>A | not provided [RCV001722754] | benign | 9 | 735089 | 735089 | Human | | name |
| 150541445 | CV1306356 | single nucleotide variant | NM_015158.5(KANK1):c.3553+133A>G | not provided [RCV001767978] | likely benign | 9 | 738637 | 738637 | Human | | name |
| 150542450 | CV1307770 | single nucleotide variant | NM_015158.5(KANK1):c.3246-133A>G | not provided [RCV001769545] | likely benign | 9 | 734615 | 734615 | Human | | name |
| 150542459 | CV1307772 | single nucleotide variant | NM_015158.5(KANK1):c.3246-126T>C | not provided [RCV001769547] | likely benign | 9 | 734622 | 734622 | Human | | name |
| 151864381 | CV1336827 | single nucleotide variant | NM_015158.5(KANK1):c.3005+134G>A | not provided [RCV002034863] | likely benign | 9 | 731400 | 731400 | Human | | name |
| 407457656 | CV3416142 | single nucleotide variant | NM_015158.5(KANK1):c.3333+915T>G | not provided [RCV004599020] | likely benign | 9 | 735750 | 735750 | Human | | name |
| 598129668 | CV3887087 | single nucleotide variant | NM_015158.5(KANK1):c.3333+921G>A | not provided [RCV005245147] | likely benign | 9 | 735756 | 735756 | Human | | name |
| 151883604 | CV1452416 | duplication | NM_015158.5(KANK1):c.3554_3556dup | KANK1-related disorder [RCV004536357]|not provided [RCV002037374] | uncertain significance | 9 | 740790 | 740791 | Human | 1 | name , trait , alternate_id |
| 152102118 | CV1547072 | single nucleotide variant | NM_015158.5(KANK1):c.9C>T (p.His3=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002486970]|not provided [RCV002151933] | likely benign | 9 | 676981 | 676981 | Human | 1 | name |
| 152132970 | CV1666066 | single nucleotide variant | NM_015158.5(KANK1):c.24C>T (p.Asn8=) | not provided [RCV002099735] | likely benign | 9 | 676996 | 676996 | Human | | name |
| 10411840 | CV205466 | deletion | NM_015158.5(KANK1):c.5del (p.Ala2fs) | Abnormality of neuronal migration [RCV000201405] | benign | 9 | 676977 | 676977 | Human | 1 | name |
| 150509713 | CV1229971 | deletion | NM_015158.5(KANK1):c.38-174_38-164del | not provided [RCV001636551] | benign | 9 | 710630 | 710640 | Human | | name |
| 150460488 | CV1269809 | deletion | NM_015158.5(KANK1):c.38-174_38-163del | not provided [RCV001693512] | benign | 9 | 710629 | 710640 | Human | | name |
| 150481661 | CV1279803 | deletion | NM_015158.5(KANK1):c.38-164_38-163del | not provided [RCV001714887] | benign | 9 | 710639 | 710640 | Human | | name |
| 150482557 | CV1280011 | deletion | NM_015158.5(KANK1):c.38-164_38-162del | not provided [RCV001715042] | benign | 9 | 710638 | 710640 | Human | | name |
| 152115144 | CV1552614 | single nucleotide variant | NM_015158.5(KANK1):c.66C>T (p.Asp22=) | not provided [RCV002153558] | likely benign | 9 | 710832 | 710832 | Human | | name |
| 152141071 | CV1628879 | single nucleotide variant | NM_015158.5(KANK1):c.93C>T (p.Tyr31=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002499934]|not provided [RCV002100785] | likely benign | 9 | 710859 | 710859 | Human | 1 | name |
| 152098128 | CV1650297 | microsatellite | NM_015158.5(KANK1):c.3898-7_3898-3del | not provided [RCV002114971] | likely benign | 9 | 744478 | 744482 | Human | | name |
| 155747580 | CV1774688 | single nucleotide variant | NM_015158.5(KANK1):c.8A>G (p.His3Arg) | not provided [RCV002303682] | uncertain significance | 9 | 676980 | 676980 | Human | | name |
| 155949030 | CV2162445 | single nucleotide variant | NM_015158.5(KANK1):c.1A>T (p.Met1Leu) | not provided [RCV003014744] | uncertain significance | 9 | 676973 | 676973 | Human | | name |
| 405114343 | CV2956817 | deletion | NM_015158.5(KANK1):c.3006-9_3006-5del | not provided [RCV003666732] | likely benign | 9 | 732369 | 732373 | Human | | name |
| 407467280 | CV3448225 | single nucleotide variant | NM_015158.5(KANK1):c.7C>T (p.His3Tyr) | not specified [RCV004635853] | likely benign | 9 | 676979 | 676979 | Human | | name |
| 616939681 | CV4014178 | single nucleotide variant | NM_015158.5(KANK1):c.81G>A (p.Gln27=) | not provided [RCV005413670] | likely benign | 9 | 710847 | 710847 | Human | | name |
| 38462795 | CV920275 | deletion | NM_015158.5(KANK1):c.3554-9_3554-5del | Cerebral palsy, spastic quadriplegic, 2 [RCV001198689] | benign | 9 | 740770 | 740774 | Human | 1 | name |
| 150465415 | CV1218016 | insertion | NM_015158.5(KANK1):c.-83-53_-83-52insG | not provided [RCV001614141] | benign | 9 | 676837 | 676838 | Human | | name |
| 150454729 | CV1259447 | deletion | NM_015158.5(KANK1):c.3554-11_3554-5del | not provided [RCV001681221] | benign | 9 | 740770 | 740776 | Human | | name |
| 151722408 | CV1498059 | single nucleotide variant | NM_015158.5(KANK1):c.16A>G (p.Lys6Glu) | not provided [RCV001983276] | likely benign | 9 | 676988 | 676988 | Human | | name |
| 152141345 | CV1526490 | single nucleotide variant | NM_015158.5(KANK1):c.121C>T (p.Leu41=) | not provided [RCV002084197] | likely benign | 9 | 710887 | 710887 | Human | | name |
| 152028622 | CV1655320 | single nucleotide variant | NM_015158.5(KANK1):c.264C>T (p.Ser88=) | not provided [RCV002105298] | likely benign | 9 | 711030 | 711030 | Human | | name |
| 156281747 | CV1896837 | single nucleotide variant | NM_015158.5(KANK1):c.207G>A (p.Pro69=) | not provided [RCV003087141] | likely benign | 9 | 710973 | 710973 | Human | | name |
| 156101235 | CV2011599 | deletion | NM_015158.5(KANK1):c.2897-13_2897-9del | not provided [RCV002695315] | likely benign | 9 | 731142 | 731146 | Human | | name |
| 156140159 | CV2044440 | single nucleotide variant | NM_015158.5(KANK1):c.219C>T (p.Cys73=) | not provided [RCV002800920] | likely benign | 9 | 710985 | 710985 | Human | | name |
| 405197787 | CV2976188 | single nucleotide variant | NM_015158.5(KANK1):c.216A>G (p.Pro72=) | not provided [RCV003677781] | likely benign | 9 | 710982 | 710982 | Human | | name |
| 405255161 | CV3171957 | single nucleotide variant | NM_015158.5(KANK1):c.14C>G (p.Thr5Arg) | not provided [RCV003872080] | uncertain significance | 9 | 676986 | 676986 | Human | | name |
| 405288841 | CV3209992 | single nucleotide variant | NM_015158.5(KANK1):c.183G>A (p.Leu61=) | KANK1-related disorder [RCV004544106] | likely benign | 9 | 710949 | 710949 | Human | | name , trait , alternate_id |
| 407426297 | CV3409831 | single nucleotide variant | NM_015158.5(KANK1):c.138C>T (p.Leu46=) | not provided [RCV004585763] | likely benign | 9 | 710904 | 710904 | Human | | name |
| 407455879 | CV3415769 | single nucleotide variant | NM_015158.5(KANK1):c.204G>A (p.Lys68=) | not provided [RCV004598645] | likely benign | 9 | 710970 | 710970 | Human | | name |
| 597778138 | CV3691579 | single nucleotide variant | NM_015158.5(KANK1):c.17A>T (p.Lys6Met) | not specified [RCV004930058] | uncertain significance | 9 | 676989 | 676989 | Human | | name |
| 597778175 | CV3691588 | single nucleotide variant | NM_015158.5(KANK1):c.25G>C (p.Gly9Arg) | not specified [RCV004930067] | uncertain significance | 9 | 676997 | 676997 | Human | | name |
| 597917811 | CV3737757 | single nucleotide variant | NM_015158.5(KANK1):c.162G>A (p.Lys54=) | not provided [RCV005074356] | likely benign | 9 | 710928 | 710928 | Human | | name |
| 597856909 | CV3748106 | single nucleotide variant | NM_015158.5(KANK1):c.213G>C (p.Val71=) | not provided [RCV005066928] | likely benign | 9 | 710979 | 710979 | Human | | name |
| 597956614 | CV3838267 | single nucleotide variant | NM_015158.5(KANK1):c.120A>G (p.Gln40=) | not provided [RCV005191642] | likely benign | 9 | 710886 | 710886 | Human | | name |
| 597943287 | CV3847645 | single nucleotide variant | NM_015158.5(KANK1):c.171C>A (p.Thr57=) | not provided [RCV005188373] | likely benign | 9 | 710937 | 710937 | Human | | name |
| 598233904 | CV3979878 | single nucleotide variant | NM_015158.5(KANK1):c.25G>A (p.Gly9Ser) | not specified [RCV005363431] | likely benign | 9 | 676997 | 676997 | Human | | name |
| 13462831 | CV439328 | deletion | NM_015158.5(KANK1):c.3554-10_3554-5del | not provided [RCV000514909] | benign|likely benign | 9 | 740770 | 740775 | Human | | name |
| 15138180 | CV783435 | single nucleotide variant | NM_015158.5(KANK1):c.195G>A (p.Lys65=) | not provided [RCV000982429] | benign | 9 | 710961 | 710961 | Human | | name |
| 21069897 | CV796328 | single nucleotide variant | NM_015158.5(KANK1):c.267T>A (p.Thr89=) | not provided [RCV000999116] | uncertain significance | 9 | 711033 | 711033 | Human | | name |
| 150453312 | CV1276830 | deletion | NM_015158.5(KANK1):c.2699-85_2699-84del | not provided [RCV001708620] | benign | 9 | 729966 | 729967 | Human | | name |
| 150552628 | CV1306545 | single nucleotide variant | NM_015158.5(KANK1):c.52A>G (p.Ile18Val) | not provided [RCV001768168] | benign|likely benign | 9 | 710818 | 710818 | Human | | name |
| 151747144 | CV1371333 | single nucleotide variant | NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) | Cerebral palsy, spastic quadriplegic, 2 [RCV002484499]|not provided [RCV001947727] | uncertain significance | 9 | 710812 | 710812 | Human | 1 | name |
| 152169669 | CV1529308 | single nucleotide variant | NM_015158.5(KANK1):c.906C>T (p.Val302=) | not provided [RCV002161519] | likely benign | 9 | 711672 | 711672 | Human | | name |
| 152092843 | CV1567863 | single nucleotide variant | NM_015158.5(KANK1):c.657T>C (p.Asn219=) | not provided [RCV002212966] | likely benign | 9 | 711423 | 711423 | Human | | name |
| 152086209 | CV1578038 | single nucleotide variant | NM_015158.5(KANK1):c.453C>T (p.Asn151=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002500101]|not provided [RCV002171201] | benign|likely benign | 9 | 711219 | 711219 | Human | 1 | name |
| 152128767 | CV1584190 | single nucleotide variant | NM_015158.5(KANK1):c.792C>G (p.Arg264=) | not provided [RCV002082577] | likely benign | 9 | 711558 | 711558 | Human | | name |
| 152063662 | CV1587873 | single nucleotide variant | NM_015158.5(KANK1):c.468G>A (p.Lys156=) | not provided [RCV002090580] | likely benign | 9 | 711234 | 711234 | Human | | name |
| 152026556 | CV1594686 | single nucleotide variant | NM_015158.5(KANK1):c.528G>A (p.Pro176=) | not provided [RCV002104595] | benign|likely benign | 9 | 711294 | 711294 | Human | | name |
| 152099751 | CV1655156 | insertion | NM_015158.5(KANK1):c.3554-5_3554-4insTA | Cerebral palsy, spastic quadriplegic, 2 [RCV002499978]|not provided [RCV002115171] | likely benign | 9 | 740787 | 740788 | Human | 1 | name |
| 155711167 | CV1775839 | single nucleotide variant | NM_015158.5(KANK1):c.59G>A (p.Ser20Asn) | not provided [RCV002296205] | uncertain significance | 9 | 710825 | 710825 | Human | | name |
| 155794414 | CV1858536 | deletion | NM_015158.5(KANK1):c.38-3358_38-2787del | Schizophrenia [RCV002463498] | uncertain significance | 9 | 707446 | 708017 | Human | 2 | name |
| 156209430 | CV1959548 | single nucleotide variant | NM_015158.5(KANK1):c.822G>T (p.Leu274=) | not provided [RCV002575093] | likely benign | 9 | 711588 | 711588 | Human | | name |
| 156409360 | CV1961767 | deletion | NM_015158.5(KANK1):c.3245+16_3245+21del | not provided [RCV002586793] | likely benign | 9 | 732628 | 732633 | Human | | name |
| 156357477 | CV2020165 | single nucleotide variant | NM_015158.5(KANK1):c.88C>T (p.Pro30Ser) | not provided [RCV002720633] | uncertain significance | 9 | 710854 | 710854 | Human | | name |
| 155960501 | CV2131789 | single nucleotide variant | NM_015158.5(KANK1):c.820C>T (p.Leu274=) | not provided [RCV002995131] | likely benign | 9 | 711586 | 711586 | Human | | name |
| 155993271 | CV2171366 | single nucleotide variant | NM_015158.5(KANK1):c.528G>T (p.Pro176=) | not provided [RCV003034428] | likely benign | 9 | 711294 | 711294 | Human | | name |
| 401924250 | CV2828715 | single nucleotide variant | NM_015158.5(KANK1):c.603T>G (p.Gly201=) | not provided [RCV003435676] | likely benign | 9 | 711369 | 711369 | Human | | name |
| 402505496 | CV2880008 | single nucleotide variant | NM_015158.5(KANK1):c.792C>T (p.Arg264=) | not provided [RCV003546216] | likely benign | 9 | 711558 | 711558 | Human | | name |
| 405128313 | CV2883141 | single nucleotide variant | NM_015158.5(KANK1):c.35C>T (p.Ser12Leu) | not provided [RCV003559720] | uncertain significance | 9 | 677007 | 677007 | Human | | name |
| 402513625 | CV2991473 | single nucleotide variant | NM_015158.5(KANK1):c.969C>T (p.Ser323=) | not provided [RCV003689753] | likely benign | 9 | 711735 | 711735 | Human | | name |
| 405246656 | CV3048205 | single nucleotide variant | NM_015158.5(KANK1):c.984C>T (p.Asn328=) | not provided [RCV003720584] | likely benign | 9 | 711750 | 711750 | Human | | name |
| 405274075 | CV3211537 | single nucleotide variant | NM_015158.5(KANK1):c.819C>T (p.Arg273=) | KANK1-related disorder [RCV004542344]|not provided [RCV005101834] | likely benign | 9 | 711585 | 711585 | Human | 1 | name , trait , alternate_id |
| 597778198 | CV3691594 | single nucleotide variant | NM_015158.5(KANK1):c.67C>G (p.Gln23Glu) | not specified [RCV004930073] | uncertain significance | 9 | 710833 | 710833 | Human | | name |
| 598212367 | CV3979889 | single nucleotide variant | NM_015158.5(KANK1):c.44C>A (p.Ala15Glu) | not specified [RCV005358816] | uncertain significance | 9 | 710810 | 710810 | Human | | name |
| 13519821 | CV493713 | single nucleotide variant | NM_015158.5(KANK1):c.95T>C (p.Phe32Ser) | KANK1-related disorder [RCV004543389]|not provided [RCV000598173] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 710861 | 710861 | Human | 1 | name , trait , alternate_id |
| 15173123 | CV701046 | variation | NM_015158.5(KANK1):c.3834= (p.Gly1278=) | not provided [RCV000950173] | likely benign | 9 | 742342 | 742342 | Human | | name |
| 15112893 | CV723610 | single nucleotide variant | NM_015158.5(KANK1):c.783G>A (p.Gln261=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002501494]|KANK1-related disorder [RCV004541843]|not provided [RCV000894556] | likely benign | 9 | 711549 | 711549 | Human | 1 | name , trait , alternate_id |
| 15151582 | CV723611 | single nucleotide variant | NM_015158.5(KANK1):c.804C>T (p.Ala268=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002507550]|not provided [RCV000879626] | benign|likely benign | 9 | 711570 | 711570 | Human | 1 | name |
| 15176827 | CV737173 | single nucleotide variant | NM_015158.5(KANK1):c.561T>C (p.Phe187=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002487977]|not provided [RCV000906515] | likely benign | 9 | 711327 | 711327 | Human | 1 | name |
| 15185260 | CV737174 | single nucleotide variant | NM_015158.5(KANK1):c.624C>G (p.Ala208=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002502715]|not provided [RCV000908478] | benign|likely benign | 9 | 711390 | 711390 | Human | 1 | name |
| 15120225 | CV751750 | single nucleotide variant | NM_015158.5(KANK1):c.564A>G (p.Gly188=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002505359]|not provided [RCV000918285] | likely benign | 9 | 711330 | 711330 | Human | 1 | name |
| 15193634 | CV751751 | single nucleotide variant | NM_015158.5(KANK1):c.906C>G (p.Val302=) | not provided [RCV000910896] | likely benign | 9 | 711672 | 711672 | Human | | name |
| 15138248 | CV783436 | single nucleotide variant | NM_015158.5(KANK1):c.978G>A (p.Ala326=) | not provided [RCV000982441] | likely benign | 9 | 711744 | 711744 | Human | | name |
| 126908058 | CV1046228 | single nucleotide variant | NM_015158.5(KANK1):c.255A>G (p.Ile85Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV002499750]|not provided [RCV001367537]|not specified [RCV004037013] | uncertain significance | 9 | 711021 | 711021 | Human | 1 | name |
| 127311108 | CV1156242 | single nucleotide variant | NM_015158.5(KANK1):c.200G>A (p.Arg67Gln) | not provided [RCV001518499] | benign | 9 | 710966 | 710966 | Human | | name |
| 127311123 | CV1156245 | single nucleotide variant | NM_015158.5(KANK1):c.1300A>C (p.Arg434=) | not provided [RCV001518501] | benign | 9 | 712066 | 712066 | Human | | name |
| 127316396 | CV1156246 | single nucleotide variant | NM_015158.5(KANK1):c.1371G>C (p.Leu457=) | not provided [RCV001520477] | benign | 9 | 712137 | 712137 | Human | | name |
| 127302688 | CV1156248 | single nucleotide variant | NM_015158.5(KANK1):c.1833C>T (p.Asn611=) | not provided [RCV001515160] | benign | 9 | 712599 | 712599 | Human | 1 | name |
| 127302688 | CV1156248 | single nucleotide variant | NM_015158.5(KANK1):c.1833C>T (p.Asn611=) | not provided [RCV001515160] | benign | 9 | 712599 | 712600 | Human | 1 | name |
| 127291799 | CV1156249 | single nucleotide variant | NM_015158.5(KANK1):c.1908C>T (p.Asp636=) | not provided [RCV001510560] | benign | 9 | 712674 | 712674 | Human | | name |
| 127301036 | CV1156251 | single nucleotide variant | NM_015158.5(KANK1):c.2541A>G (p.Glu847=) | not provided [RCV001514491] | benign | 9 | 713307 | 713307 | Human | | name |
| 151748763 | CV1431020 | single nucleotide variant | NM_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 significance | 9 | 710992 | 710992 | Human | 1 | name |
| 151809925 | CV1459947 | single nucleotide variant | NM_015158.5(KANK1):c.106C>T (p.Pro36Ser) | not provided [RCV002048757] | uncertain significance | 9 | 710872 | 710872 | Human | | name |
| 151737208 | CV1463738 | single nucleotide variant | NM_015158.5(KANK1):c.1218G>A (p.Glu406=) | not provided [RCV001911543] | likely benign|uncertain significance | 9 | 711984 | 711984 | Human | | name |
| 151795940 | CV1505565 | single nucleotide variant | NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) | Cerebral palsy, spastic quadriplegic, 2 [RCV002489945]|not provided [RCV002047542] | uncertain significance | 9 | 710914 | 710914 | Human | 1 | name |
| 152147601 | CV1528621 | single nucleotide variant | NM_015158.5(KANK1):c.1926A>G (p.Pro642=) | not provided [RCV002101722] | likely benign | 9 | 712692 | 712692 | Human | | name |
| 152060627 | CV1540652 | single nucleotide variant | NM_015158.5(KANK1):c.1236C>T (p.Ile412=) | not provided [RCV002110068] | likely benign | 9 | 712002 | 712002 | Human | | name |
| 152063811 | CV1554496 | single nucleotide variant | NM_015158.5(KANK1):c.1131G>A (p.Leu377=) | not provided [RCV002190863] | likely benign | 9 | 711897 | 711897 | Human | | name |
| 152137220 | CV1563357 | single nucleotide variant | NM_015158.5(KANK1):c.1995G>A (p.Val665=) | KANK1-related disorder [RCV004543729]|not provided [RCV002200106] | likely benign | 9 | 712761 | 712761 | Human | 1 | name , trait , alternate_id |
| 152121580 | CV1570270 | single nucleotide variant | NM_015158.5(KANK1):c.1785G>A (p.Val595=) | not provided [RCV002216852] | likely benign | 9 | 712551 | 712551 | Human | | name |
| 152037952 | CV1576559 | single nucleotide variant | NM_015158.5(KANK1):c.1287A>C (p.Thr429=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002494217]|not provided [RCV002107305] | likely benign | 9 | 712053 | 712053 | Human | 1 | name |
| 152089045 | CV1577287 | single nucleotide variant | NM_015158.5(KANK1):c.2301C>T (p.Asn767=) | not provided [RCV002212468] | likely benign | 9 | 713067 | 713067 | Human | | name |
| 152093004 | CV1584588 | single nucleotide variant | NM_015158.5(KANK1):c.1947C>T (p.Gly649=) | not provided [RCV002114331] | likely benign | 9 | 712713 | 712713 | Human | | name |
| 152131093 | CV1647674 | single nucleotide variant | NM_015158.5(KANK1):c.151G>A (p.Asp51Asn) | not provided [RCV002082871]|not specified [RCV002509751] | likely benign|uncertain significance | 9 | 710917 | 710917 | Human | | name |
| 152049870 | CV1656320 | single nucleotide variant | NM_015158.5(KANK1):c.2919A>G (p.Thr973=) | not provided [RCV002207384] | likely benign | 9 | 731180 | 731180 | Human | | name |
| 152139323 | CV1660574 | single nucleotide variant | NM_015158.5(KANK1):c.1239C>T (p.Val413=) | not provided [RCV002120140] | likely benign | 9 | 712005 | 712005 | Human | | name |
| 156004184 | CV1869697 | single nucleotide variant | NM_015158.5(KANK1):c.2880C>T (p.Ile960=) | not provided [RCV003076737] | likely benign | 9 | 730232 | 730232 | Human | | name |
| 156343446 | CV1871482 | single nucleotide variant | NM_015158.5(KANK1):c.270A>C (p.Glu90Asp) | not provided [RCV003064375] | uncertain significance | 9 | 711036 | 711036 | Human | | name |
| 156394741 | CV1876979 | single nucleotide variant | NM_015158.5(KANK1):c.1971G>A (p.Gln657=) | not provided [RCV003068462] | benign|likely benign | 9 | 712737 | 712737 | Human | | name |
| 156192765 | CV1904248 | single nucleotide variant | NM_015158.5(KANK1):c.1428T>G (p.Leu476=) | not provided [RCV002574467] | likely benign | 9 | 712194 | 712194 | Human | | name |
| 156208867 | CV1913382 | single nucleotide variant | NM_015158.5(KANK1):c.1527G>A (p.Pro509=) | not provided [RCV002595988] | likely benign | 9 | 712293 | 712293 | Human | | name |
| 156028506 | CV1914123 | single nucleotide variant | NM_015158.5(KANK1):c.196A>G (p.Arg66Gly) | not provided [RCV002619740]|not specified [RCV004069064] | uncertain significance | 9 | 710962 | 710962 | Human | | name |
| 156201898 | CV1916830 | single nucleotide variant | NM_015158.5(KANK1):c.208T>C (p.Ser70Pro) | not provided [RCV002595735] | uncertain significance | 9 | 710974 | 710974 | Human | | name |
| 156406841 | CV1917886 | single nucleotide variant | NM_015158.5(KANK1):c.1026C>T (p.Gly342=) | not provided [RCV002606719] | likely benign | 9 | 711792 | 711792 | Human | | name |
| 156419237 | CV1923042 | single nucleotide variant | NM_015158.5(KANK1):c.1083G>A (p.Thr361=) | not provided [RCV002612457] | likely benign | 9 | 711849 | 711849 | Human | | name |
| 156444891 | CV1949037 | single nucleotide variant | NM_015158.5(KANK1):c.2100A>G (p.Leu700=) | KANK1-related disorder [RCV004540618]|not provided [RCV003115822] | likely benign | 9 | 712866 | 712866 | Human | 1 | name , trait , alternate_id |
| 156261885 | CV1960689 | single nucleotide variant | NM_015158.5(KANK1):c.1414C>T (p.Leu472=) | not provided [RCV002576873] | likely benign | 9 | 712180 | 712180 | Human | | name |
| 155968446 | CV1967969 | single nucleotide variant | NM_015158.5(KANK1):c.157C>A (p.Gln53Lys) | not provided [RCV002617066]|not specified [RCV004065688] | uncertain significance | 9 | 710923 | 710923 | Human | | name |
| 155970883 | CV1978289 | single nucleotide variant | NM_015158.5(KANK1):c.1242G>T (p.Val414=) | not provided [RCV002617175] | likely benign | 9 | 712008 | 712008 | Human | | name |
| 156257030 | CV1981966 | single nucleotide variant | NM_015158.5(KANK1):c.1935C>T (p.Cys645=) | not provided [RCV002646086] | likely benign | 9 | 712701 | 712701 | Human | | name |
| 156324733 | CV1985079 | single nucleotide variant | NM_015158.5(KANK1):c.221C>T (p.Pro74Leu) | not provided [RCV002649482] | uncertain significance | 9 | 710987 | 710987 | Human | | name |
| 156300685 | CV2002107 | single nucleotide variant | NM_015158.5(KANK1):c.2229T>C (p.Ser743=) | not provided [RCV002671145] | likely benign | 9 | 712995 | 712995 | Human | | name |
| 155902537 | CV2007100 | single nucleotide variant | NM_015158.5(KANK1):c.2058C>T (p.Thr686=) | not provided [RCV002681192] | likely benign | 9 | 712824 | 712824 | Human | | name |
| 155914593 | CV2008129 | single nucleotide variant | NM_015158.5(KANK1):c.2142G>A (p.Thr714=) | not provided [RCV002681962] | likely benign | 9 | 712908 | 712908 | Human | | name |
| 156198791 | CV2014635 | single nucleotide variant | NM_015158.5(KANK1):c.1821G>A (p.Glu607=) | not provided [RCV002700206] | likely benign | 9 | 712587 | 712587 | Human | | name |
| 155911424 | CV2014714 | single nucleotide variant | NM_015158.5(KANK1):c.2607C>T (p.Thr869=) | KANK1-related disorder [RCV004545369]|not provided [RCV002681748] | likely benign | 9 | 713373 | 713373 | Human | 1 | name , trait , alternate_id |
| 156017191 | CV2019126 | single nucleotide variant | NM_015158.5(KANK1):c.1497A>G (p.Lys499=) | not provided [RCV002690825] | likely benign | 9 | 712263 | 712263 | Human | | name |
| 156234000 | CV2040069 | single nucleotide variant | NM_015158.5(KANK1):c.149A>G (p.Asp50Gly) | not provided [RCV002805425] | uncertain significance | 9 | 710915 | 710915 | Human | | name |
| 155967812 | CV2059056 | single nucleotide variant | NM_015158.5(KANK1):c.124G>A (p.Asp42Asn) | not provided [RCV002776591] | uncertain significance | 9 | 710890 | 710890 | Human | | name |
| 156007901 | CV2075273 | single nucleotide variant | NM_015158.5(KANK1):c.1659T>G (p.Pro553=) | not provided [RCV002843714] | likely benign | 9 | 712425 | 712425 | Human | | name |
| 156308947 | CV2076141 | single nucleotide variant | NM_015158.5(KANK1):c.2082C>G (p.Ser694=) | not provided [RCV002857549] | likely benign | 9 | 712848 | 712848 | Human | | name |
| 156009604 | CV2083294 | single nucleotide variant | NM_015158.5(KANK1):c.1758G>A (p.Val586=) | not provided [RCV002866032] | likely benign | 9 | 712524 | 712524 | Human | | name |
| 156248310 | CV2086311 | duplication | NM_015158.5(KANK1):c.920dup (p.Asn307fs) | not provided [RCV002876849] | uncertain significance | 9 | 711681 | 711682 | Human | | name |
| 156188132 | CV2086634 | single nucleotide variant | NM_015158.5(KANK1):c.2160A>G (p.Gly720=) | not provided [RCV002852049] | likely benign | 9 | 712926 | 712926 | Human | | name |
| 156103243 | CV2113462 | single nucleotide variant | NM_015158.5(KANK1):c.2265G>A (p.Lys755=) | not provided [RCV002952816] | likely benign | 9 | 713031 | 713031 | Human | | name |
| 156366377 | CV2116554 | single nucleotide variant | NM_015158.5(KANK1):c.2943A>G (p.Lys981=) | not provided [RCV002941981] | likely benign | 9 | 731204 | 731204 | Human | | name |
| 156254553 | CV2117171 | single nucleotide variant | NM_015158.5(KANK1):c.2817C>T (p.Ser939=) | not provided [RCV002933668] | likely benign | 9 | 730169 | 730169 | Human | | name |
| 156352005 | CV2118670 | single nucleotide variant | NM_015158.5(KANK1):c.1437C>T (p.Thr479=) | not provided [RCV002966368] | likely benign | 9 | 712203 | 712203 | Human | | name |
| 156321911 | CV2123874 | single nucleotide variant | NM_015158.5(KANK1):c.287A>G (p.Asn96Ser) | not provided [RCV002963264]|not specified [RCV004065074] | uncertain significance | 9 | 711053 | 711053 | Human | | name |
| 155906339 | CV2130797 | single nucleotide variant | NM_015158.5(KANK1):c.2163A>G (p.Glu721=) | KANK1-related disorder [RCV004545465]|not provided [RCV002967734] | likely benign | 9 | 712929 | 712929 | Human | 1 | name , trait , alternate_id |
| 156097019 | CV2135823 | single nucleotide variant | NM_015158.5(KANK1):c.1371G>A (p.Leu457=) | not provided [RCV002979832] | likely benign | 9 | 712137 | 712137 | Human | | name |
| 155956907 | CV2140236 | single nucleotide variant | NM_015158.5(KANK1):c.197G>A (p.Arg66Lys) | not provided [RCV002994945] | uncertain significance | 9 | 710963 | 710963 | Human | | name |
| 156110858 | CV2146067 | single nucleotide variant | NM_015158.5(KANK1):c.265A>G (p.Thr89Ala) | not provided [RCV003021405] | uncertain significance | 9 | 711031 | 711031 | Human | | name |
| 156020897 | CV2174184 | single nucleotide variant | NM_015158.5(KANK1):c.1182G>A (p.Glu394=) | not provided [RCV003035725] | likely benign | 9 | 711948 | 711948 | Human | | name |
| 156280025 | CV2186794 | single nucleotide variant | NM_015158.5(KANK1):c.2598C>T (p.Leu866=) | not provided [RCV003044749] | likely benign | 9 | 713364 | 713364 | Human | | name |
| 156267726 | CV2189328 | single nucleotide variant | NM_015158.5(KANK1):c.205C>T (p.Pro69Ser) | not provided [RCV003044341] | uncertain significance | 9 | 710971 | 710971 | Human | | name |
| 156388071 | CV2383581 | single nucleotide variant | NM_015158.5(KANK1):c.290G>C (p.Ser97Thr) | not provided [RCV005099089]|not specified [RCV004224450] | uncertain significance | 9 | 711056 | 711056 | Human | | name |
| 401875410 | CV2749933 | single nucleotide variant | NM_015158.5(KANK1):c.271T>A (p.Ser91Thr) | Cerebral palsy, spastic quadriplegic, 2 [RCV003333340] | uncertain significance | 9 | 711037 | 711037 | Human | 1 | name |
| 405076468 | CV2869512 | single nucleotide variant | NM_015158.5(KANK1):c.211G>A (p.Val71Met) | not provided [RCV003548842]|not specified [RCV004369099] | uncertain significance | 9 | 710977 | 710977 | Human | | name |
| 402495499 | CV2883777 | single nucleotide variant | NM_015158.5(KANK1):c.1782T>C (p.Ser594=) | not provided [RCV003573456] | likely benign | 9 | 712548 | 712548 | Human | | name |
| 405187651 | CV2917727 | single nucleotide variant | NM_015158.5(KANK1):c.1851G>A (p.Lys617=) | not provided [RCV003564584] | likely benign | 9 | 712617 | 712617 | Human | | name |
| 405087538 | CV2943314 | single nucleotide variant | NM_015158.5(KANK1):c.2376C>G (p.Ala792=) | not provided [RCV003665054] | likely benign | 9 | 713142 | 713142 | Human | | name |
| 405143390 | CV2946000 | single nucleotide variant | NM_015158.5(KANK1):c.144T>G (p.Tyr48Ter) | not provided [RCV003669464] | uncertain significance | 9 | 710910 | 710910 | Human | | name |
| 405170150 | CV2951236 | single nucleotide variant | NM_015158.5(KANK1):c.1413C>T (p.Arg471=) | not provided [RCV003675353] | likely benign | 9 | 712179 | 712179 | Human | | name |
| 405138404 | CV2954414 | single nucleotide variant | NM_015158.5(KANK1):c.1260G>A (p.Arg420=) | not provided [RCV003672928] | likely benign | 9 | 712026 | 712026 | Human | | name |
| 402492613 | CV2981280 | single nucleotide variant | NM_015158.5(KANK1):c.206C>G (p.Pro69Arg) | not provided [RCV003713924] | uncertain significance | 9 | 710972 | 710972 | Human | | name |
| 402489548 | CV2984500 | single nucleotide variant | NM_015158.5(KANK1):c.2241G>A (p.Gly747=) | not provided [RCV003713640] | likely benign | 9 | 713007 | 713007 | Human | | name |
| 405204512 | CV2986310 | single nucleotide variant | NM_015158.5(KANK1):c.1842A>C (p.Thr614=) | not provided [RCV003678516] | likely benign | 9 | 712608 | 712608 | Human | | name |
| 405184359 | CV3040224 | single nucleotide variant | NM_015158.5(KANK1):c.2640A>G (p.Ala880=) | not provided [RCV003705869] | likely benign | 9 | 713406 | 713406 | Human | | name |
| 405093555 | CV3045590 | single nucleotide variant | NM_015158.5(KANK1):c.2970A>C (p.Ala990=) | not provided [RCV003717995] | likely benign | 9 | 731231 | 731231 | Human | | name |
| 405140045 | CV3045895 | single nucleotide variant | NM_015158.5(KANK1):c.1119C>T (p.Asp373=) | not provided [RCV003725567] | likely benign | 9 | 711885 | 711885 | Human | | name |
| 405158912 | CV3061639 | single nucleotide variant | NM_015158.5(KANK1):c.1353T>C (p.Ala451=) | not provided [RCV003726955] | benign | 9 | 712119 | 712119 | Human | | name |
| 405041954 | CV3064088 | single nucleotide variant | NM_015158.5(KANK1):c.2967C>T (p.Gly989=) | not provided [RCV003739966] | likely benign | 9 | 731228 | 731228 | Human | | name |
| 405156173 | CV3064930 | single nucleotide variant | NM_015158.5(KANK1):c.2220G>T (p.Thr740=) | not provided [RCV003726767] | likely benign | 9 | 712986 | 712986 | Human | | name |
| 405141288 | CV3131147 | single nucleotide variant | NM_015158.5(KANK1):c.103A>G (p.Thr35Ala) | not provided [RCV003839187]|not specified [RCV004927958] | likely benign|uncertain significance | 9 | 710869 | 710869 | Human | | name |
| 405141414 | CV3131175 | single nucleotide variant | NM_015158.5(KANK1):c.191A>G (p.Gln64Arg) | not provided [RCV003839215] | uncertain significance | 9 | 710957 | 710957 | Human | | name |
| 405125974 | CV3132745 | single nucleotide variant | NM_015158.5(KANK1):c.2166C>T (p.Gly722=) | not provided [RCV003837908] | likely benign | 9 | 712932 | 712932 | Human | | name |
| 405112487 | CV3133610 | single nucleotide variant | NM_015158.5(KANK1):c.2406C>T (p.Asp802=) | not provided [RCV003836403] | likely benign | 9 | 713172 | 713172 | Human | | name |
| 405230821 | CV3153942 | single nucleotide variant | NM_015158.5(KANK1):c.2199G>A (p.Thr733=) | not provided [RCV003848810] | likely benign | 9 | 712965 | 712965 | Human | | name |
| 405245476 | CV3161839 | single nucleotide variant | NM_015158.5(KANK1):c.140A>G (p.Lys47Arg) | not provided [RCV003868552] | uncertain significance | 9 | 710906 | 710906 | Human | | name |
| 405234195 | CV3168374 | single nucleotide variant | NM_015158.5(KANK1):c.2547A>G (p.Ala849=) | not provided [RCV003865848] | likely benign | 9 | 713313 | 713313 | Human | | name |
| 402471302 | CV3171534 | single nucleotide variant | NM_015158.5(KANK1):c.1800C>T (p.Cys600=) | not provided [RCV003874318] | likely benign | 9 | 712566 | 712566 | Human | | name |
| 405241853 | CV3173196 | single nucleotide variant | NM_015158.5(KANK1):c.1317C>T (p.Ser439=) | not provided [RCV003867481] | likely benign | 9 | 712083 | 712083 | Human | | name |
| 402504786 | CV3181497 | single nucleotide variant | NM_015158.5(KANK1):c.1152C>T (p.Ser384=) | not provided [RCV003878331] | likely benign | 9 | 711918 | 711918 | Human | | name |
| 405280056 | CV3200290 | single nucleotide variant | NM_015158.5(KANK1):c.1794C>T (p.Ser598=) | KANK1-related disorder [RCV004542505] | likely benign | 9 | 712560 | 712560 | Human | | name , trait , alternate_id |
| 405268509 | CV3201052 | single nucleotide variant | NM_015158.5(KANK1):c.2322C>T (p.Leu774=) | KANK1-related disorder [RCV004531834] | likely benign | 9 | 713088 | 713088 | Human | | name , trait , alternate_id |
| 405801580 | CV3271802 | single nucleotide variant | NM_015158.5(KANK1):c.266C>A (p.Thr89Asn) | not specified [RCV004403500] | uncertain significance | 9 | 711032 | 711032 | Human | | name |
| 407426167 | CV3409755 | single nucleotide variant | NM_015158.5(KANK1):c.1170A>G (p.Ser390=) | not provided [RCV004585687] | likely benign | 9 | 711936 | 711936 | Human | | name |
| 408371208 | CV3504983 | single nucleotide variant | NM_015158.5(KANK1):c.266C>G (p.Thr89Ser) | KANK1-related disorder [RCV004724570] | uncertain significance | 9 | 711032 | 711032 | Human | | name , trait , alternate_id |
| 408375910 | CV3506693 | single nucleotide variant | NM_015158.5(KANK1):c.2211T>C (p.Gly737=) | KANK1-related disorder [RCV004726451] | likely benign | 9 | 712977 | 712977 | Human | | name , trait , alternate_id |
| 12849491 | CV364228 | single nucleotide variant | NM_015158.5(KANK1):c.149A>T (p.Asp50Val) | Amyotrophic lateral sclerosis [RCV003105894]|not provided [RCV000430887]|not specified [RCV000598207] | benign|likely benign|uncertain significance | 9 | 710915 | 710915 | Human | 2 | name |
| 597864765 | CV3742233 | single nucleotide variant | NM_015158.5(KANK1):c.1287A>G (p.Thr429=) | not provided [RCV005067849] | likely benign | 9 | 712053 | 712053 | Human | | name |
| 597852413 | CV3743394 | single nucleotide variant | NM_015158.5(KANK1):c.1920C>T (p.Cys640=) | not provided [RCV005060744] | likely benign | 9 | 712686 | 712686 | Human | | name |
| 597975793 | CV3795928 | single nucleotide variant | NM_015158.5(KANK1):c.221C>G (p.Pro74Arg) | not provided [RCV005144759] | uncertain significance | 9 | 710987 | 710987 | Human | | name |
| 597955467 | CV3796177 | single nucleotide variant | NM_015158.5(KANK1):c.1617G>C (p.Gly539=) | not provided [RCV005136994] | likely benign | 9 | 712383 | 712383 | Human | | name |
| 597970223 | CV3801903 | single nucleotide variant | NM_015158.5(KANK1):c.2883C>T (p.Ala961=) | not provided [RCV005141695] | likely benign | 9 | 730235 | 730235 | Human | | name |
| 597878688 | CV3813720 | single nucleotide variant | NM_015158.5(KANK1):c.1395G>A (p.Leu465=) | not provided [RCV005149462] | likely benign | 9 | 712161 | 712161 | Human | | name |
| 597973105 | CV3820097 | single nucleotide variant | NM_015158.5(KANK1):c.211G>T (p.Val71Leu) | not provided [RCV005167811] | uncertain significance | 9 | 710977 | 710977 | Human | | name |
| 597846749 | CV3828021 | single nucleotide variant | NM_015158.5(KANK1):c.1419A>G (p.Glu473=) | not provided [RCV005173096] | likely benign | 9 | 712185 | 712185 | Human | | name |
| 597923899 | CV3839954 | single nucleotide variant | NM_015158.5(KANK1):c.1785G>C (p.Val595=) | not provided [RCV005184693] | likely benign | 9 | 712551 | 712551 | Human | | name |
| 597942176 | CV3847199 | single nucleotide variant | NM_015158.5(KANK1):c.1965T>C (p.Val655=) | not provided [RCV005188119] | likely benign | 9 | 712731 | 712731 | Human | | name |
| 597871433 | CV3849322 | single nucleotide variant | NM_015158.5(KANK1):c.2928C>T (p.Ser976=) | not provided [RCV005197503] | likely benign | 9 | 731189 | 731189 | Human | | name |
| 597872794 | CV3849558 | single nucleotide variant | NM_015158.5(KANK1):c.2253A>G (p.Pro751=) | not provided [RCV005197739] | likely benign | 9 | 713019 | 713019 | Human | | name |
| 598128417 | CV3887621 | single nucleotide variant | NM_015158.5(KANK1):c.1581C>T (p.Val527=) | not provided [RCV005243794] | likely benign | 9 | 712347 | 712347 | Human | | name |
| 598127027 | CV3887965 | single nucleotide variant | NM_015158.5(KANK1):c.2793C>G (p.Thr931=) | not provided [RCV005242651] | likely benign | 9 | 730145 | 730145 | Human | | name |
| 13611402 | CV514597 | duplication | NM_015158.5(KANK1):c.876dup (p.Val293fs) | not provided [RCV000627490] | uncertain significance | 9 | 711641 | 711642 | Human | | name |
| 13706431 | CV537531 | single nucleotide variant | NM_015158.5(KANK1):c.260C>A (p.Thr87Asn) | not provided [RCV000659113] | uncertain significance | 9 | 711026 | 711026 | Human | | name |
| 13831401 | CV583105 | single nucleotide variant | NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) | Cerebral palsy, spastic quadriplegic, 2 [RCV000723309] | uncertain significance | 9 | 710896 | 710896 | Human | 1 | name |
| 15104424 | CV701043 | single nucleotide variant | NM_015158.5(KANK1):c.2556C>T (p.Phe852=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002489343]|not provided [RCV000959683] | likely benign | 9 | 713322 | 713322 | Human | 1 | name |
| 15127535 | CV712007 | single nucleotide variant | NM_015158.5(KANK1):c.1533T>C (p.Val511=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002503015]|KANK1-related disorder [RCV004535933]|not provided [RCV000963921] | likely benign | 9 | 712299 | 712299 | Human | 1 | name , trait , alternate_id |
| 15140830 | CV712008 | single nucleotide variant | NM_015158.5(KANK1):c.2202G>T (p.Arg734=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479122]|KANK1-related disorder [RCV004535943]|not provided [RCV000966208] | likely benign | 9 | 712968 | 712968 | Human | 1 | name , trait , alternate_id |
| 15169476 | CV723609 | single nucleotide variant | NM_015158.5(KANK1):c.206C>T (p.Pro69Leu) | not provided [RCV000883274]|not specified [RCV001729731] | benign|likely benign | 9 | 710972 | 710972 | Human | | name |
| 15151588 | CV723612 | single nucleotide variant | NM_015158.5(KANK1):c.1377G>A (p.Gln459=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002501365]|not provided [RCV000879627] | benign|likely benign | 9 | 712143 | 712143 | Human | 1 | name |
| 15098870 | CV723613 | single nucleotide variant | NM_015158.5(KANK1):c.1491G>A (p.Ser497=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002495396]|not provided [RCV000891833] | likely benign | 9 | 712257 | 712257 | Human | 1 | name |
| 15200978 | CV723616 | single nucleotide variant | NM_015158.5(KANK1):c.2544G>C (p.Leu848=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002495393]|KANK1-related disorder [RCV004530966]|not provided [RCV000891062] | likely benign | 9 | 713310 | 713310 | Human | 1 | name , trait , alternate_id |
| 15175799 | CV723619 | single nucleotide variant | NM_015158.5(KANK1):c.2847G>A (p.Thr949=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002501408]|not provided [RCV000884449] | likely benign | 9 | 730199 | 730199 | Human | 1 | name |
| 15137651 | CV751752 | single nucleotide variant | NM_015158.5(KANK1):c.1011G>A (p.Arg337=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002505365]|not provided [RCV000921207] | likely benign | 9 | 711777 | 711777 | Human | 1 | name |
| 15165340 | CV751754 | single nucleotide variant | NM_015158.5(KANK1):c.2091C>T (p.Asn697=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479075]|KANK1-related disorder [RCV004543480]|not provided [RCV000926599] | likely benign | 9 | 712857 | 712857 | Human | 1 | name , trait , alternate_id |
| 15193627 | CV767464 | single nucleotide variant | NM_015158.5(KANK1):c.1608G>A (p.Thr536=) | not provided [RCV000933415] | likely benign | 9 | 712374 | 712374 | Human | | name |
| 15172324 | CV767465 | single nucleotide variant | NM_015158.5(KANK1):c.2064G>A (p.Thr688=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002495569]|not provided [RCV000928090] | likely benign | 9 | 712830 | 712830 | Human | 1 | name |
| 15187827 | CV767467 | single nucleotide variant | NM_015158.5(KANK1):c.2268C>T (p.Thr756=) | not provided [RCV000931772] | likely benign | 9 | 713034 | 713034 | Human | | name |
| 15190990 | CV767468 | single nucleotide variant | NM_015158.5(KANK1):c.2373A>C (p.Thr791=) | not provided [RCV000932675] | likely benign | 9 | 713139 | 713139 | Human | | name |
| 15191892 | CV767469 | single nucleotide variant | NM_015158.5(KANK1):c.2646T>G (p.Thr882=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002502854]|not provided [RCV000932928] | benign|likely benign | 9 | 713412 | 713412 | Human | 1 | name |
| 15133096 | CV783437 | single nucleotide variant | NM_015158.5(KANK1):c.1263C>T (p.Ser421=) | not provided [RCV000981498] | likely benign | 9 | 712029 | 712029 | Human | | name |
| 38467951 | CV920811 | single nucleotide variant | NM_015158.5(KANK1):c.2367G>A (p.Gly789=) | not provided [RCV001200493] | likely benign | 9 | 713133 | 713133 | Human | | name |
| 127311116 | CV1156243 | single nucleotide variant | NM_015158.5(KANK1):c.630C>G (p.His210Gln) | not provided [RCV001518500] | benign | 9 | 711396 | 711396 | Human | | name |
| 127301050 | CV1156256 | single nucleotide variant | NM_015158.5(KANK1):c.3483C>T (p.Asn1161=) | not provided [RCV001514493] | benign | 9 | 738434 | 738434 | Human | | name |
| 127311137 | CV1156257 | single nucleotide variant | NM_015158.5(KANK1):c.3663C>T (p.Phe1221=) | not provided [RCV001518503] | benign | 9 | 740901 | 740901 | Human | | name |
| 127320263 | CV1156258 | single nucleotide variant | NM_015158.5(KANK1):c.3834A>G (p.Gly1278=) | not provided [RCV001522546] | benign | 9 | 742342 | 742342 | Human | | name |
| 150520808 | CV1289916 | single nucleotide variant | NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002488489]|not provided [RCV001730292]|not specified [RCV004040019] | uncertain significance | 9 | 744589 | 744589 | Human | 1 | name |
| 151866403 | CV1342115 | single nucleotide variant | NM_015158.5(KANK1):c.975T>A (p.Ser325Arg) | not provided [RCV001997783] | uncertain significance | 9 | 711741 | 711741 | Human | | name |
| 151749986 | CV1358994 | single nucleotide variant | NM_015158.5(KANK1):c.3486C>T (p.Gly1162=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002484851]|not provided [RCV001969092] | likely benign|uncertain significance | 9 | 738437 | 738437 | Human | 1 | name |
| 151830339 | CV1377771 | single nucleotide variant | NM_015158.5(KANK1):c.980G>C (p.Gly327Ala) | not provided [RCV002014251] | uncertain significance | 9 | 711746 | 711746 | Human | | name |
| 151874624 | CV1388202 | single nucleotide variant | NM_015158.5(KANK1):c.516G>T (p.Met172Ile) | not provided [RCV001981743] | uncertain significance | 9 | 711282 | 711282 | Human | | name |
| 151742074 | CV1390809 | single nucleotide variant | NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) | Cerebral palsy, spastic quadriplegic, 2 [RCV002497841]|not provided [RCV001985334] | uncertain significance | 9 | 711449 | 711449 | Human | 1 | name |
| 151711789 | CV1396567 | single nucleotide variant | NM_015158.5(KANK1):c.560T>A (p.Phe187Tyr) | not provided [RCV001889539] | uncertain significance | 9 | 711326 | 711326 | Human | | name |
| 151743768 | CV1404541 | single nucleotide variant | NM_015158.5(KANK1):c.790C>T (p.Arg264Cys) | not provided [RCV002022589]|not specified [RCV004927791] | uncertain significance | 9 | 711556 | 711556 | Human | | name |
| 151731307 | CV1420754 | single nucleotide variant | NM_015158.5(KANK1):c.325G>A (p.Ala109Thr) | not provided [RCV002021324]|not specified [RCV004631933] | uncertain significance | 9 | 711091 | 711091 | Human | | name |
| 151888049 | CV1434028 | single nucleotide variant | NM_015158.5(KANK1):c.674A>G (p.Tyr225Cys) | not provided [RCV002038318] | uncertain significance | 9 | 711440 | 711440 | Human | | name |
| 151800828 | CV1442210 | single nucleotide variant | NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492359]|not provided [RCV002011553]|not specified [RCV004927793] | uncertain significance | 9 | 711101 | 711101 | Human | 1 | name |
| 151767995 | CV1445316 | single nucleotide variant | NM_015158.5(KANK1):c.873C>G (p.Ile291Met) | not provided [RCV002025085] | uncertain significance | 9 | 711639 | 711639 | Human | | name |
| 151756056 | CV1449311 | single nucleotide variant | NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492286]|not provided [RCV001986759]|not specified [RCV004045422] | uncertain significance | 9 | 711199 | 711199 | Human | 1 | name |
| 151746581 | CV1462243 | single nucleotide variant | NM_015158.5(KANK1):c.424C>T (p.Pro142Ser) | not provided [RCV001968709] | uncertain significance | 9 | 711190 | 711190 | Human | | name |
| 151886897 | CV1464362 | single nucleotide variant | NM_015158.5(KANK1):c.3879C>T (p.Asn1293=) | not provided [RCV001942271] | likely benign | 9 | 742387 | 742387 | Human | | name |
| 151836653 | CV1469242 | single nucleotide variant | NM_015158.5(KANK1):c.3897C>T (p.Asn1299=) | not provided [RCV002051284] | uncertain significance | 9 | 742405 | 742405 | Human | | name |
| 151716564 | CV1470665 | single nucleotide variant | NM_015158.5(KANK1):c.3552C>T (p.Ala1184=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002482799]|KANK1-related disorder [RCV004542168]|not provided [RCV001909057] | likely benign|uncertain significance | 9 | 738503 | 738503 | Human | 1 | name , trait , alternate_id |
| 151842269 | CV1473535 | single nucleotide variant | NM_015158.5(KANK1):c.298A>G (p.Asn100Asp) | not provided [RCV002031961] | uncertain significance | 9 | 711064 | 711064 | Human | | name |
| 151887014 | CV1496025 | single nucleotide variant | NM_015158.5(KANK1):c.793G>A (p.Glu265Lys) | not provided [RCV001887681]|not specified [RCV004038977] | uncertain significance | 9 | 711559 | 711559 | Human | | name |
| 151787458 | CV1504699 | single nucleotide variant | NM_015158.5(KANK1):c.917A>G (p.Lys306Arg) | not provided [RCV001951702] | uncertain significance | 9 | 711683 | 711683 | Human | | name |
| 151724887 | CV1515033 | single nucleotide variant | NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479693]|not provided [RCV001983558]|not specified [RCV004045309] | uncertain significance | 9 | 711232 | 711232 | Human | 1 | name |
| 151756919 | CV1517271 | single nucleotide variant | NM_015158.5(KANK1):c.526C>T (p.Pro176Ser) | not provided [RCV002043837]|not specified [RCV004046971] | uncertain significance | 9 | 711292 | 711292 | Human | | name |
| 152131955 | CV1521851 | single nucleotide variant | NM_015158.5(KANK1):c.857T>A (p.Val286Glu) | Cerebral palsy, spastic quadriplegic, 2 [RCV002498179]|KANK1-related disorder [RCV004543719]|not provided [RCV002199443] | likely benign | 9 | 711623 | 711623 | Human | 1 | name , trait , alternate_id |
| 152030626 | CV1534308 | single nucleotide variant | NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002486860]|KANK1-related disorder [RCV004531352]|not provided [RCV002086184] | likely benign | 9 | 742315 | 742315 | Human | 1 | name , trait , alternate_id |
| 152055369 | CV1582109 | single nucleotide variant | NM_015158.5(KANK1):c.3243G>A (p.Glu1081=) | not provided [RCV002089641] | likely benign | 9 | 732615 | 732615 | Human | | name |
| 152134259 | CV1609206 | single nucleotide variant | NM_015158.5(KANK1):c.3177G>A (p.Lys1059=) | not provided [RCV002177214] | likely benign | 9 | 732549 | 732549 | Human | | name |
| 152096534 | CV1623320 | single nucleotide variant | NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002498248]|not provided [RCV002213434] | benign|likely benign | 9 | 740856 | 740856 | Human | 1 | name |
| 152141640 | CV1625334 | single nucleotide variant | NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002494136]|not provided [RCV002219452] | likely benign | 9 | 732429 | 732429 | Human | 1 | name |
| 152081312 | CV1641338 | single nucleotide variant | NM_015158.5(KANK1):c.3444A>T (p.Pro1148=) | not provided [RCV002211457] | likely benign | 9 | 738395 | 738395 | Human | | name |
| 152167463 | CV1644693 | single nucleotide variant | NM_015158.5(KANK1):c.3060G>A (p.Glu1020=) | KANK1-related disorder [RCV004734451]|not provided [RCV002142168] | likely benign | 9 | 732432 | 732432 | Human | 1 | name , trait , alternate_id |
| 152142350 | CV1654250 | single nucleotide variant | NM_015158.5(KANK1):c.3855G>A (p.Leu1285=) | not provided [RCV002200740] | likely benign | 9 | 742363 | 742363 | Human | | name |
| 152103672 | CV1667495 | single nucleotide variant | NM_015158.5(KANK1):c.817C>T (p.Arg273Cys) | not provided [RCV002214483] | likely benign | 9 | 711583 | 711583 | Human | | name |
| 152103678 | CV1667497 | single nucleotide variant | NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002496149]|not provided [RCV002214485] | likely benign | 9 | 742252 | 742252 | Human | 1 | name |
| 155700966 | CV1771127 | single nucleotide variant | NM_015158.5(KANK1):c.556A>G (p.Ser186Gly) | not provided [RCV002295626] | uncertain significance | 9 | 711322 | 711322 | Human | | name |
| 156092442 | CV1909858 | single nucleotide variant | NM_015158.5(KANK1):c.3570T>C (p.Asp1190=) | KANK1-related disorder [RCV004538809]|not provided [RCV002591960] | likely benign | 9 | 740808 | 740808 | Human | 1 | name , trait , alternate_id |
| 156025890 | CV1917633 | single nucleotide variant | NM_015158.5(KANK1):c.3699G>A (p.Ala1233=) | not provided [RCV002619628] | likely benign | 9 | 742207 | 742207 | Human | | name |
| 155932683 | CV1919707 | single nucleotide variant | NM_015158.5(KANK1):c.3825C>T (p.Ser1275=) | KANK1-related disorder [RCV004540566]|not provided [RCV002615092] | benign|likely benign | 9 | 742333 | 742333 | Human | 1 | name , trait , alternate_id |
| 156054557 | CV1935067 | single nucleotide variant | NM_015158.5(KANK1):c.356C>G (p.Ser119Ter) | not specified [RCV002510354] | uncertain significance | 9 | 711122 | 711122 | Human | | name |
| 156444848 | CV1948892 | single nucleotide variant | NM_015158.5(KANK1):c.3795C>T (p.Asp1265=) | not provided [RCV003115778] | likely benign | 9 | 742303 | 742303 | Human | | name |
| 156354677 | CV1962293 | single nucleotide variant | NM_015158.5(KANK1):c.323T>G (p.Ile108Arg) | not provided [RCV002581307] | uncertain significance | 9 | 711089 | 711089 | Human | | name |
| 156250489 | CV1967191 | single nucleotide variant | NM_015158.5(KANK1):c.3708G>A (p.Thr1236=) | not provided [RCV002597453] | likely benign | 9 | 742216 | 742216 | Human | | name |
| 156352202 | CV1978537 | single nucleotide variant | NM_015158.5(KANK1):c.313A>G (p.Asn105Asp) | not provided [RCV002601906] | uncertain significance | 9 | 711079 | 711079 | Human | | name |
| 156088647 | CV1983913 | single nucleotide variant | NM_015158.5(KANK1):c.800T>C (p.Met267Thr) | not provided [RCV002621783]|not specified [RCV004617067] | uncertain significance | 9 | 711566 | 711566 | Human | | name |
| 156089939 | CV1983997 | single nucleotide variant | NM_015158.5(KANK1):c.612C>G (p.Asn204Lys) | not provided [RCV002621824] | uncertain significance | 9 | 711378 | 711378 | Human | | name |
| 156390761 | CV1990102 | single nucleotide variant | NM_015158.5(KANK1):c.704T>C (p.Met235Thr) | not provided [RCV002604647]|not specified [RCV005350973] | likely benign|uncertain significance | 9 | 711470 | 711470 | Human | | name |
| 156391154 | CV1990143 | single nucleotide variant | NM_015158.5(KANK1):c.545C>A (p.Pro182His) | not provided [RCV002604679] | uncertain significance | 9 | 711311 | 711311 | Human | | name |
| 156100916 | CV2001075 | single nucleotide variant | NM_015158.5(KANK1):c.3172T>C (p.Leu1058=) | not provided [RCV002639579] | likely benign | 9 | 732544 | 732544 | Human | | name |
| 156292245 | CV2009791 | single nucleotide variant | NM_015158.5(KANK1):c.677C>T (p.Ala226Val) | not provided [RCV002715703] | uncertain significance | 9 | 711443 | 711443 | Human | | name |
| 156132153 | CV2022785 | single nucleotide variant | NM_015158.5(KANK1):c.3672G>A (p.Gly1224=) | not provided [RCV002740605] | likely benign | 9 | 740910 | 740910 | Human | | name |
| 156011193 | CV2043075 | single nucleotide variant | NM_015158.5(KANK1):c.3906C>T (p.Ser1302=) | not provided [RCV002756694] | likely benign | 9 | 744499 | 744499 | Human | | name |
| 155901204 | CV2043585 | single nucleotide variant | NM_015158.5(KANK1):c.3123A>G (p.Glu1041=) | KANK1-related disorder [RCV004545394]|not provided [RCV002770981] | likely benign | 9 | 732495 | 732495 | Human | 1 | name , trait , alternate_id |
| 156153102 | CV2049178 | single nucleotide variant | NM_015158.5(KANK1):c.646T>C (p.Tyr216His) | not provided [RCV002801357] | uncertain significance | 9 | 711412 | 711412 | Human | | name |
| 156262759 | CV2053838 | single nucleotide variant | NM_015158.5(KANK1):c.452A>C (p.Asn151Thr) | not provided [RCV002792073] | uncertain significance | 9 | 711218 | 711218 | Human | | name |
| 155940969 | CV2110728 | single nucleotide variant | NM_015158.5(KANK1):c.977C>T (p.Ala326Val) | not provided [RCV002904469] | uncertain significance | 9 | 711743 | 711743 | Human | | name |
| 156309497 | CV2111193 | single nucleotide variant | NM_015158.5(KANK1):c.983A>G (p.Asn328Ser) | not provided [RCV002937082] | uncertain significance | 9 | 711749 | 711749 | Human | | name |
| 156025563 | CV2112463 | single nucleotide variant | NM_015158.5(KANK1):c.3240A>G (p.Arg1080=) | not provided [RCV002909819] | benign | 9 | 732612 | 732612 | Human | | name |
| 156104266 | CV2113531 | single nucleotide variant | NM_015158.5(KANK1):c.3828G>A (p.Glu1276=) | not provided [RCV002952854] | likely benign | 9 | 742336 | 742336 | Human | | name |
| 156002409 | CV2119084 | single nucleotide variant | NM_015158.5(KANK1):c.454C>A (p.Leu152Ile) | not provided [RCV002975247] | uncertain significance | 9 | 711220 | 711220 | Human | | name |
| 156392811 | CV2123638 | single nucleotide variant | NM_015158.5(KANK1):c.380C>T (p.Thr127Ile) | not provided [RCV002944086]|not specified [RCV004068343] | uncertain significance | 9 | 711146 | 711146 | Human | | name |
| 155947905 | CV2151006 | single nucleotide variant | NM_015158.5(KANK1):c.977C>G (p.Ala326Gly) | not provided [RCV003014680] | uncertain significance | 9 | 711743 | 711743 | Human | | name |
| 156136387 | CV2181559 | single nucleotide variant | NM_015158.5(KANK1):c.323T>C (p.Ile108Thr) | not provided [RCV003039881] | uncertain significance | 9 | 711089 | 711089 | Human | | name |
| 156116470 | CV2209086 | single nucleotide variant | NM_015158.5(KANK1):c.824A>G (p.Lys275Arg) | not specified [RCV004093318] | uncertain significance | 9 | 711590 | 711590 | Human | | name |
| 156296762 | CV2240782 | single nucleotide variant | NM_015158.5(KANK1):c.627G>C (p.Lys209Asn) | not specified [RCV004102083] | uncertain significance | 9 | 711393 | 711393 | Human | | name |
| 156285851 | CV2292028 | single nucleotide variant | NM_015158.5(KANK1):c.413G>A (p.Arg138Gln) | not specified [RCV004160311] | likely benign | 9 | 711179 | 711179 | Human | | name |
| 156200826 | CV2362980 | single nucleotide variant | NM_015158.5(KANK1):c.984C>A (p.Asn328Lys) | KANK1-related disorder [RCV004736297]|not provided [RCV003778547]|not specified [RCV004211124] | uncertain significance | 9 | 711750 | 711750 | Human | 1 | name , trait , alternate_id |
| 155956676 | CV2387333 | single nucleotide variant | NM_015158.5(KANK1):c.427C>T (p.Pro143Ser) | not specified [RCV004238417] | uncertain significance | 9 | 711193 | 711193 | Human | | name |
| 329355784 | CV2430486 | single nucleotide variant | NM_015158.5(KANK1):c.705G>A (p.Met235Ile) | not specified [RCV004252072] | uncertain significance | 9 | 711471 | 711471 | Human | | name |
| 329401262 | CV2442260 | single nucleotide variant | NM_015158.5(KANK1):c.580A>G (p.Ser194Gly) | not specified [RCV004264745] | uncertain significance | 9 | 711346 | 711346 | Human | | name |
| 329374049 | CV2452806 | single nucleotide variant | NM_015158.5(KANK1):c.717C>G (p.Ile239Met) | not specified [RCV004275338] | uncertain significance | 9 | 711483 | 711483 | Human | | name |
| 329396977 | CV2463726 | single nucleotide variant | NM_015158.5(KANK1):c.815A>C (p.Lys272Thr) | not specified [RCV004279292] | uncertain significance | 9 | 711581 | 711581 | Human | | name |
| 402493758 | CV2874250 | single nucleotide variant | NM_015158.5(KANK1):c.3723G>A (p.Ala1241=) | not provided [RCV003545181] | likely benign | 9 | 742231 | 742231 | Human | | name |
| 405223757 | CV2887597 | single nucleotide variant | NM_015158.5(KANK1):c.470C>G (p.Thr157Arg) | not provided [RCV003554316] | uncertain significance | 9 | 711236 | 711236 | Human | | name |
| 405223101 | CV2891241 | single nucleotide variant | NM_015158.5(KANK1):c.638A>G (p.Gln213Arg) | KANK1-related disorder [RCV004536852]|not provided [RCV003554223] | uncertain significance | 9 | 711404 | 711404 | Human | 1 | name , trait , alternate_id |
| 402523358 | CV2900276 | single nucleotide variant | NM_015158.5(KANK1):c.458A>G (p.His153Arg) | not provided [RCV003576027] | uncertain significance | 9 | 711224 | 711224 | Human | | name |
| 402503130 | CV2937733 | single nucleotide variant | NM_015158.5(KANK1):c.3759T>C (p.Leu1253=) | not provided [RCV003661791] | likely benign | 9 | 742267 | 742267 | Human | | name |
| 405074639 | CV2940571 | single nucleotide variant | NM_015158.5(KANK1):c.935C>T (p.Ser312Phe) | not provided [RCV003659566] | uncertain significance | 9 | 711701 | 711701 | Human | | name |
| 405130599 | CV2953700 | single nucleotide variant | NM_015158.5(KANK1):c.607G>A (p.Gly203Arg) | not provided [RCV003672373]|not specified [RCV004634305] | uncertain significance | 9 | 711373 | 711373 | Human | | name |
| 405121199 | CV2957669 | single nucleotide variant | NM_015158.5(KANK1):c.302A>G (p.Lys101Arg) | not provided [RCV003667370] | uncertain significance | 9 | 711068 | 711068 | Human | | name |
| 405235579 | CV2976595 | single nucleotide variant | NM_015158.5(KANK1):c.939G>C (p.Gln313His) | not provided [RCV003683022] | uncertain significance | 9 | 711705 | 711705 | Human | | name |
| 405239370 | CV2979715 | single nucleotide variant | NM_015158.5(KANK1):c.623C>G (p.Ala208Gly) | not provided [RCV003683705] | uncertain significance | 9 | 711389 | 711389 | Human | | name |
| 405077751 | CV3004367 | single nucleotide variant | NM_015158.5(KANK1):c.3690T>G (p.Ala1230=) | not provided [RCV003716895] | likely benign | 9 | 740928 | 740928 | Human | | name |
| 405208409 | CV3037182 | single nucleotide variant | NM_015158.5(KANK1):c.3681T>C (p.Asn1227=) | not provided [RCV003708311] | likely benign | 9 | 740919 | 740919 | Human | | name |
| 405221657 | CV3038603 | single nucleotide variant | NM_015158.5(KANK1):c.551T>C (p.Leu184Pro) | not provided [RCV003710064] | uncertain significance | 9 | 711317 | 711317 | Human | | name |
| 405204797 | CV3068015 | single nucleotide variant | NM_015158.5(KANK1):c.685G>A (p.Ala229Thr) | not provided [RCV003731196] | uncertain significance | 9 | 711451 | 711451 | Human | | name |
| 405189646 | CV3069701 | single nucleotide variant | NM_015158.5(KANK1):c.758C>G (p.Thr253Ser) | not provided [RCV003729601] | uncertain significance | 9 | 711524 | 711524 | Human | | name |
| 405243521 | CV3071907 | single nucleotide variant | NM_015158.5(KANK1):c.566G>A (p.Gly189Asp) | not provided [RCV003737819] | uncertain significance | 9 | 711332 | 711332 | Human | | name |
| 405214535 | CV3078342 | single nucleotide variant | NM_015158.5(KANK1):c.985G>A (p.Ala329Thr) | not provided [RCV003732379] | uncertain significance | 9 | 711751 | 711751 | Human | | name |
| 405189549 | CV3117957 | single nucleotide variant | NM_015158.5(KANK1):c.506G>C (p.Arg169Thr) | not provided [RCV003820867] | uncertain significance | 9 | 711272 | 711272 | Human | | name |
| 405187514 | CV3121215 | single nucleotide variant | NM_015158.5(KANK1):c.3771G>C (p.Gly1257=) | not provided [RCV003820671] | likely benign | 9 | 742279 | 742279 | Human | | name |
| 405192174 | CV3145998 | single nucleotide variant | NM_015158.5(KANK1):c.745T>C (p.Ser249Pro) | not provided [RCV003843545] | uncertain significance | 9 | 711511 | 711511 | Human | | name |
| 405059127 | CV3147908 | single nucleotide variant | NM_015158.5(KANK1):c.364C>A (p.Pro122Thr) | not provided [RCV003850138] | uncertain significance | 9 | 711130 | 711130 | Human | | name |
| 405061544 | CV3148303 | single nucleotide variant | NM_015158.5(KANK1):c.3648T>C (p.Ile1216=) | not provided [RCV003850259] | likely benign | 9 | 740886 | 740886 | Human | | name |
| 405238310 | CV3166962 | single nucleotide variant | NM_015158.5(KANK1):c.3096T>C (p.Leu1032=) | not provided [RCV003854217] | likely benign | 9 | 732468 | 732468 | Human | | name |
| 405288972 | CV3204894 | single nucleotide variant | NM_015158.5(KANK1):c.3507C>T (p.Ser1169=) | KANK1-related disorder [RCV004544113] | likely benign | 9 | 738458 | 738458 | Human | | name , trait , alternate_id |
| 405290564 | CV3207512 | single nucleotide variant | NM_015158.5(KANK1):c.3567G>C (p.Val1189=) | KANK1-related disorder [RCV004532037] | likely benign | 9 | 740805 | 740805 | Human | | name , trait , alternate_id |
| 405698949 | CV3227050 | single nucleotide variant | NM_015158.5(KANK1):c.386T>C (p.Leu129Pro) | not provided [RCV003993444] | uncertain significance | 9 | 711152 | 711152 | Human | | name |
| 405801600 | CV3271811 | single nucleotide variant | NM_015158.5(KANK1):c.715A>C (p.Ile239Leu) | not specified [RCV004403509] | uncertain significance | 9 | 711481 | 711481 | Human | | name |
| 405801604 | CV3271813 | single nucleotide variant | NM_015158.5(KANK1):c.773T>C (p.Met258Thr) | not specified [RCV004403511] | uncertain significance | 9 | 711539 | 711539 | Human | | name |
| 407467293 | CV3448228 | single nucleotide variant | NM_015158.5(KANK1):c.470C>T (p.Thr157Ile) | KANK1-related disorder [RCV004736446]|not specified [RCV004635856] | uncertain significance | 9 | 711236 | 711236 | Human | 1 | name , trait , alternate_id |
| 407467325 | CV3448235 | single nucleotide variant | NM_015158.5(KANK1):c.544C>T (p.Pro182Ser) | not specified [RCV004635863] | uncertain significance | 9 | 711310 | 711310 | Human | | name |
| 408368520 | CV3513175 | single nucleotide variant | NM_015158.5(KANK1):c.3228G>A (p.Lys1076=) | KANK1-related disorder [RCV004735260] | likely benign | 9 | 732600 | 732600 | Human | | name , trait , alternate_id |
| 597778162 | CV3691585 | single nucleotide variant | NM_015158.5(KANK1):c.764T>G (p.Val255Gly) | not specified [RCV004930064] | uncertain significance | 9 | 711530 | 711530 | Human | | name |
| 597778166 | CV3691586 | single nucleotide variant | NM_015158.5(KANK1):c.710G>A (p.Ser237Asn) | not specified [RCV004930065] | uncertain significance | 9 | 711476 | 711476 | Human | | name |
| 597778195 | CV3691593 | single nucleotide variant | NM_015158.5(KANK1):c.370C>G (p.Pro124Ala) | not specified [RCV004930072] | likely benign | 9 | 711136 | 711136 | Human | | name |
| 597778202 | CV3691595 | single nucleotide variant | NM_015158.5(KANK1):c.643G>A (p.Gly215Arg) | not specified [RCV004930074] | uncertain significance | 9 | 711409 | 711409 | Human | | name |
| 597918241 | CV3737811 | single nucleotide variant | NM_015158.5(KANK1):c.676G>A (p.Ala226Thr) | not provided [RCV005074410] | uncertain significance | 9 | 711442 | 711442 | Human | | name |
| 597918613 | CV3737858 | single nucleotide variant | NM_015158.5(KANK1):c.3270G>A (p.Leu1090=) | not provided [RCV005074457] | likely benign | 9 | 734772 | 734772 | Human | | name |
| 597831248 | CV3739956 | single nucleotide variant | NM_015158.5(KANK1):c.805A>G (p.Ile269Val) | not provided [RCV005062654] | uncertain significance | 9 | 711571 | 711571 | Human | | name |
| 597832241 | CV3740149 | single nucleotide variant | NM_015158.5(KANK1):c.818G>A (p.Arg273His) | not provided [RCV005062848] | uncertain significance | 9 | 711584 | 711584 | Human | | name |
| 597830324 | CV3742990 | single nucleotide variant | NM_015158.5(KANK1):c.3360C>T (p.His1120=) | not provided [RCV005061998] | likely benign | 9 | 738311 | 738311 | Human | | name |
| 597958500 | CV3751876 | single nucleotide variant | NM_015158.5(KANK1):c.3837C>T (p.His1279=) | not provided [RCV005081005] | likely benign | 9 | 742345 | 742345 | Human | | name |
| 597954730 | CV3754109 | single nucleotide variant | NM_015158.5(KANK1):c.961A>C (p.Lys321Gln) | not provided [RCV005080152] | uncertain significance | 9 | 711727 | 711727 | Human | | name |
| 597950078 | CV3759318 | single nucleotide variant | NM_015158.5(KANK1):c.3441C>T (p.Ser1147=) | not provided [RCV005079115] | likely benign | 9 | 738392 | 738392 | Human | | name |
| 597961172 | CV3794841 | single nucleotide variant | NM_015158.5(KANK1):c.587T>C (p.Leu196Pro) | not provided [RCV005138746] | uncertain significance | 9 | 711353 | 711353 | Human | | name |
| 597953258 | CV3795497 | single nucleotide variant | NM_015158.5(KANK1):c.965G>A (p.Arg322Gln) | not provided [RCV005136507] | uncertain significance | 9 | 711731 | 711731 | Human | | name |
| 597953949 | CV3795665 | single nucleotide variant | NM_015158.5(KANK1):c.3276A>G (p.Ala1092=) | not provided [RCV005136675] | likely benign | 9 | 734778 | 734778 | Human | | name |
| 597871984 | CV3805231 | single nucleotide variant | NM_015158.5(KANK1):c.3885C>T (p.His1295=) | not provided [RCV005148509] | likely benign | 9 | 742393 | 742393 | Human | | name |
| 597922229 | CV3808144 | single nucleotide variant | NM_015158.5(KANK1):c.3006G>A (p.Gly1002=) | not provided [RCV005155852] | uncertain significance | 9 | 732378 | 732378 | Human | | name |
| 597932593 | CV3812757 | single nucleotide variant | NM_015158.5(KANK1):c.311C>T (p.Pro104Leu) | not provided [RCV005157289] | uncertain significance | 9 | 711077 | 711077 | Human | | name |
| 597929705 | CV3826860 | single nucleotide variant | NM_015158.5(KANK1):c.784C>T (p.His262Tyr) | not provided [RCV005156873] | uncertain significance | 9 | 711550 | 711550 | Human | | name |
| 597976003 | CV3829019 | single nucleotide variant | NM_015158.5(KANK1):c.3978T>C (p.Phe1326=) | not provided [RCV005169468] | likely benign | 9 | 744571 | 744571 | Human | | name |
| 597832141 | CV3830917 | single nucleotide variant | NM_015158.5(KANK1):c.783G>C (p.Gln261His) | not provided [RCV005170315] | uncertain significance | 9 | 711549 | 711549 | Human | | name |
| 597872621 | CV3849528 | single nucleotide variant | NM_015158.5(KANK1):c.994C>A (p.Leu332Met) | not provided [RCV005197709] | uncertain significance | 9 | 711760 | 711760 | Human | | name |
| 597904197 | CV3856297 | single nucleotide variant | NM_015158.5(KANK1):c.683C>T (p.Ala228Val) | not provided [RCV005202525] | uncertain significance | 9 | 711449 | 711449 | Human | | name |
| 598223645 | CV3894031 | single nucleotide variant | NM_015158.5(KANK1):c.3615C>T (p.Leu1205=) | not provided [RCV005257274] | likely benign | 9 | 740853 | 740853 | Human | | name |
| 598258943 | CV3979880 | single nucleotide variant | NM_015158.5(KANK1):c.377A>C (p.Glu126Ala) | not specified [RCV005347313] | likely benign | 9 | 711143 | 711143 | Human | | name |
| 598258949 | CV3979881 | single nucleotide variant | NM_015158.5(KANK1):c.743T>G (p.Ile248Ser) | not specified [RCV005347314] | uncertain significance | 9 | 711509 | 711509 | Human | | name |
| 598212349 | CV3979885 | single nucleotide variant | NM_015158.5(KANK1):c.845G>A (p.Arg282Gln) | not specified [RCV005358814] | likely benign | 9 | 711611 | 711611 | Human | | name |
| 598233916 | CV3979886 | single nucleotide variant | NM_015158.5(KANK1):c.376G>C (p.Glu126Gln) | not specified [RCV005363433] | uncertain significance | 9 | 711142 | 711142 | Human | | name |
| 598212375 | CV3979891 | single nucleotide variant | NM_015158.5(KANK1):c.617A>G (p.Asn206Ser) | not specified [RCV005358817] | likely benign | 9 | 711383 | 711383 | Human | | name |
| 598199571 | CV4007330 | single nucleotide variant | NM_015158.5(KANK1):c.310C>G (p.Pro104Ala) | Cerebral palsy, spastic quadriplegic, 2 [RCV005398158] | uncertain significance | 9 | 711076 | 711076 | Human | 1 | name |
| 13462514 | CV438804 | single nucleotide variant | NM_015158.5(KANK1):c.633G>C (p.Gln211His) | not provided [RCV000514287] | likely benign | 9 | 711399 | 711399 | Human | | name |
| 13489556 | CV444510 | single nucleotide variant | NM_015158.5(KANK1):c.385C>T (p.Leu129Phe) | not provided [RCV000523927] | uncertain significance | 9 | 711151 | 711151 | Human | | name |
| 13518147 | CV493710 | single nucleotide variant | NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) | Cerebral palsy, spastic quadriplegic, 2 [RCV002506441]|not provided [RCV000597072] | uncertain significance | 9 | 711738 | 711738 | Human | 1 | name |
| 13515906 | CV493715 | single nucleotide variant | NM_015158.5(KANK1):c.565G>A (p.Gly189Ser) | KANK1-related disorder [RCV004530720]|not provided [RCV000906302]|not specified [RCV000594868] | likely benign | 9 | 711331 | 711331 | Human | 1 | name , trait , alternate_id |
| 13831804 | CV582302 | deletion | NM_015158.5(KANK1):c.1791del (p.Ser598fs) | not provided [RCV000722487] | uncertain significance | 9 | 712557 | 712557 | Human | | name |
| 13832419 | CV582913 | duplication | NM_015158.5(KANK1):c.1576dup (p.Met526fs) | not provided [RCV000723107] | uncertain significance | 9 | 712339 | 712340 | Human | | name |
| 15202966 | CV701045 | single nucleotide variant | NM_015158.5(KANK1):c.3102A>G (p.Glu1034=) | not provided [RCV000958136] | likely benign | 9 | 732474 | 732474 | Human | | name |
| 15134233 | CV712005 | single nucleotide variant | NM_015158.5(KANK1):c.346A>G (p.Thr116Ala) | not provided [RCV000965091] | benign|likely benign | 9 | 711112 | 711112 | Human | | name |
| 15127526 | CV712006 | single nucleotide variant | NM_015158.5(KANK1):c.593C>T (p.Ser198Phe) | not provided [RCV000963920] | benign | 9 | 711359 | 711359 | Human | | name |
| 15157028 | CV712012 | single nucleotide variant | NM_015158.5(KANK1):c.3372C>T (p.Arg1124=) | not provided [RCV000969230] | benign|likely benign | 9 | 738323 | 738323 | Human | | name |
| 15167103 | CV712013 | single nucleotide variant | NM_015158.5(KANK1):c.3609G>A (p.Ala1203=) | KANK1-related disorder [RCV004535961]|not provided [RCV000971328] | benign|likely benign | 9 | 740847 | 740847 | Human | 1 | name , trait , alternate_id |
| 15194363 | CV723620 | single nucleotide variant | NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002495380]|not provided [RCV000889203] | benign | 9 | 742378 | 742378 | Human | 1 | name |
| 15196361 | CV723621 | single nucleotide variant | NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) | Cerebral palsy, spastic quadriplegic, 2 [RCV002505268]|not provided [RCV000889755] | benign|likely benign | 9 | 744505 | 744505 | Human | 1 | name |
| 15132184 | CV737177 | single nucleotide variant | NM_015158.5(KANK1):c.3354C>G (p.Leu1118=) | not provided [RCV000897911] | likely benign | 9 | 738305 | 738305 | Human | | name |
| 15188085 | CV737178 | single nucleotide variant | NM_015158.5(KANK1):c.3477C>T (p.Asp1159=) | not provided [RCV000909269] | benign|likely benign | 9 | 738428 | 738428 | Human | | name |
| 15162064 | CV737179 | single nucleotide variant | NM_015158.5(KANK1):c.4023G>A (p.Thr1341=) | KANK1-related disorder [RCV004541902]|not provided [RCV000903476] | likely benign | 9 | 745199 | 745199 | Human | 1 | name , trait , alternate_id |
| 39456272 | CV966516 | single nucleotide variant | NM_015158.5(KANK1):c.511A>G (p.Thr171Ala) | Rare genetic intellectual disability [RCV001257026]|not provided [RCV003727959] | uncertain significance | 9 | 711277 | 711277 | Human | | name |
| 126737942 | CV1017208 | single nucleotide variant | NM_015158.5(KANK1):c.1086G>C (p.Gln362His) | Cerebral palsy, spastic quadriplegic, 2 [RCV001328857]|not provided [RCV002546280]|not specified [RCV005369828] | uncertain significance | 9 | 711852 | 711852 | Human | 1 | name |
| 126741403 | CV1020653 | single nucleotide variant | NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) | Cerebral palsy, spastic quadriplegic, 2 [RCV001336248]|not specified [RCV004629581] | uncertain significance | 9 | 712786 | 712786 | Human | 1 | name |
| 126741410 | CV1020654 | single nucleotide variant | NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV001336249]|not provided [RCV002547352] | uncertain significance | 9 | 713449 | 713449 | Human | 1 | name |
| 126741414 | CV1020656 | deletion | NM_015158.5(KANK1):c.3709del (p.Ala1237fs) | Cerebral palsy, spastic quadriplegic, 2 [RCV001336250]|not provided [RCV003727986] | uncertain significance | 9 | 742216 | 742216 | Human | 1 | name |
| 126912684 | CV1037934 | single nucleotide variant | NM_015158.5(KANK1):c.1173G>T (p.Glu391Asp) | not provided [RCV001356721] | uncertain significance | 9 | 711939 | 711939 | Human | | name |
| 126909967 | CV1037935 | single nucleotide variant | NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) | Cerebral palsy, spastic quadriplegic, 2 [RCV001354202] | uncertain significance | 9 | 712667 | 712667 | Human | 1 | name |
| 127301002 | CV1119833 | single nucleotide variant | NM_015158.5(KANK1):c.1357A>G (p.Lys453Glu) | KANK1-related disorder [RCV004533791]|not provided [RCV001461260]|not specified [RCV004038599] | likely benign|uncertain significance | 9 | 712123 | 712123 | Human | 1 | name , trait , alternate_id |
| 127302681 | CV1156244 | single nucleotide variant | NM_015158.5(KANK1):c.1294G>C (p.Glu432Gln) | not provided [RCV001515159] | benign | 9 | 712060 | 712060 | Human | | name |
| 127316400 | CV1156247 | single nucleotide variant | NM_015158.5(KANK1):c.1390T>G (p.Ser464Ala) | not provided [RCV001520478] | benign | 9 | 712156 | 712156 | Human | | name |
| 127301030 | CV1156250 | single nucleotide variant | NM_015158.5(KANK1):c.2000G>A (p.Arg667His) | not provided [RCV001514490] | benign | 9 | 712766 | 712766 | Human | 3 | name |
| 127301030 | CV1156250 | single nucleotide variant | NM_015158.5(KANK1):c.2000G>A (p.Arg667His) | not provided [RCV001514490] | benign | 9 | 712766 | 712767 | Human | 3 | name |
| 127311129 | CV1156252 | single nucleotide variant | NM_015158.5(KANK1):c.2702A>G (p.Asn901Ser) | not provided [RCV001518502] | benign | 9 | 730054 | 730054 | Human | | name |
| 150410938 | CV1196043 | single nucleotide variant | NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg) | not provided [RCV001573393]|not specified [RCV004039411] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 713452 | 713452 | Human | | name |
| 150509116 | CV1229810 | insertion | NM_015158.5(KANK1):c.2699-270_2699-269insG | not provided [RCV001636389] | benign | 9 | 729781 | 729782 | Human | | name |
| 150532076 | CV1292001 | single nucleotide variant | NM_015158.5(KANK1):c.2615C>G (p.Ser872Cys) | KANK1-related disorder [RCV004542099]|not provided [RCV002077180]|not specified [RCV001733667] | likely benign | 9 | 713381 | 713381 | Human | 1 | name , trait , alternate_id |
| 151350863 | CV1325792 | duplication | NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) | Cerebral palsy, spastic quadriplegic, 2 [RCV002478046]|not specified [RCV001815138] | uncertain significance | 9 | 732583 | 732584 | Human | 1 | name |
| 151777613 | CV1336998 | single nucleotide variant | NM_015158.5(KANK1):c.2198C>T (p.Thr733Met) | not provided [RCV002025953] | uncertain significance | 9 | 712964 | 712964 | Human | | name |
| 151883480 | CV1337918 | single nucleotide variant | NM_015158.5(KANK1):c.2657G>C (p.Arg886Thr) | not provided [RCV001962138] | uncertain significance | 9 | 713423 | 713423 | Human | | name |
| 151753969 | CV1339920 | single nucleotide variant | NM_015158.5(KANK1):c.2186C>G (p.Ser729Cys) | not provided [RCV001894616] | uncertain significance | 9 | 712952 | 712952 | Human | | name |
| 151867104 | CV1342431 | single nucleotide variant | NM_015158.5(KANK1):c.2952C>G (p.Asn984Lys) | not provided [RCV001997868] | uncertain significance | 9 | 731213 | 731213 | Human | | name |
| 151838431 | CV1344757 | single nucleotide variant | NM_015158.5(KANK1):c.2740T>G (p.Ser914Ala) | not provided [RCV002015046] | uncertain significance | 9 | 730092 | 730092 | Human | | name |
| 151785222 | CV1344786 | single nucleotide variant | NM_015158.5(KANK1):c.2474A>G (p.His825Arg) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492292]|not provided [RCV001989502]|not specified [RCV004045452] | uncertain significance | 9 | 713240 | 713240 | Human | 1 | name |
| 151856558 | CV1347721 | single nucleotide variant | NM_015158.5(KANK1):c.2110G>A (p.Asp704Asn) | not provided [RCV001979596]|not specified [RCV004044585] | likely benign|uncertain significance | 9 | 712876 | 712876 | Human | | name |
| 151822494 | CV1351249 | single nucleotide variant | NM_015158.5(KANK1):c.1569A>C (p.Arg523Ser) | not provided [RCV001992917] | uncertain significance | 9 | 712335 | 712335 | Human | | name |
| 151736356 | CV1351398 | single nucleotide variant | NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479571]|not provided [RCV002021857] | uncertain significance | 9 | 712035 | 712035 | Human | 1 | name |
| 151874030 | CV1356468 | single nucleotide variant | NM_015158.5(KANK1):c.2884G>T (p.Ala962Ser) | not provided [RCV001925584] | uncertain significance | 9 | 730236 | 730236 | Human | | name |
| 151878876 | CV1359786 | single nucleotide variant | NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479837]|not provided [RCV002036598]|not specified [RCV004044884] | likely benign|uncertain significance | 9 | 731229 | 731229 | Human | 1 | name |
| 151758151 | CV1361537 | single nucleotide variant | NM_015158.5(KANK1):c.1870G>C (p.Glu624Gln) | not provided [RCV001928199]|not specified [RCV004043401] | uncertain significance | 9 | 712636 | 712636 | Human | | name |
| 151780147 | CV1363580 | single nucleotide variant | NM_015158.5(KANK1):c.2389G>A (p.Val797Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV002478139]|not provided [RCV001864886] | uncertain significance | 9 | 713155 | 713155 | Human | 1 | name |
| 151839704 | CV1368878 | single nucleotide variant | NM_015158.5(KANK1):c.1020A>C (p.Arg340Ser) | not provided [RCV002015182] | uncertain significance | 9 | 711786 | 711786 | Human | | name |
| 151778302 | CV1370635 | single nucleotide variant | NM_015158.5(KANK1):c.1322C>T (p.Thr441Ile) | not provided [RCV001864726] | uncertain significance | 9 | 712088 | 712088 | Human | | name |
| 151711250 | CV1373584 | single nucleotide variant | NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) | Cerebral palsy, spastic quadriplegic, 2 [RCV002490134]|not provided [RCV001889430] | uncertain significance | 9 | 712909 | 712909 | Human | 1 | name |
| 151856297 | CV1376468 | single nucleotide variant | NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492305]|not provided [RCV002033815]|not specified [RCV004045908] | uncertain significance | 9 | 712763 | 712763 | Human | 1 | name |
| 151752002 | CV1379517 | single nucleotide variant | NM_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 significance | 9 | 712727 | 712727 | Human | 1 | name , trait , alternate_id |
| 151821426 | CV1387287 | single nucleotide variant | NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) | Cerebral palsy, spastic quadriplegic, 2 [RCV002497843]|not provided [RCV001992813]|not specified [RCV004927776] | likely benign|uncertain significance | 9 | 712709 | 712709 | Human | 1 | name |
| 151738892 | CV1390107 | single nucleotide variant | NM_015158.5(KANK1):c.2018C>G (p.Thr673Ser) | KANK1-related disorder [RCV004538587]|not provided [RCV001893072] | uncertain significance | 9 | 712784 | 712784 | Human | 1 | name , trait , alternate_id |
| 151854735 | CV1391011 | single nucleotide variant | NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) | Cerebral palsy, spastic quadriplegic, 2 [RCV002484753]|not provided [RCV001958448]|not specified [RCV004043754] | uncertain significance | 9 | 711835 | 711835 | Human | 1 | name |
| 151821082 | CV1391040 | single nucleotide variant | NM_015158.5(KANK1):c.1412G>A (p.Arg471His) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492080]|not provided [RCV001992777]|not specified [RCV004043756] | uncertain significance | 9 | 712178 | 712178 | Human | 1 | name |
| 151825878 | CV1404270 | single nucleotide variant | NM_015158.5(KANK1):c.2374G>A (p.Ala792Thr) | not provided [RCV001976179] | uncertain significance | 9 | 713140 | 713140 | Human | | name |
| 151722879 | CV1412333 | single nucleotide variant | NM_015158.5(KANK1):c.1004T>C (p.Leu335Pro) | not provided [RCV001891353] | uncertain significance | 9 | 711770 | 711770 | Human | | name |
| 151872734 | CV1426361 | single nucleotide variant | NM_015158.5(KANK1):c.1909G>A (p.Val637Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479648]|not provided [RCV002019158] | uncertain significance | 9 | 712675 | 712675 | Human | 1 | name |
| 151775821 | CV1427520 | single nucleotide variant | NM_015158.5(KANK1):c.2765C>T (p.Thr922Ile) | not provided [RCV001864503] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 730117 | 730117 | Human | | name |
| 151737948 | CV1432359 | single nucleotide variant | NM_015158.5(KANK1):c.1006T>C (p.Ser336Pro) | not provided [RCV002022028] | uncertain significance | 9 | 711772 | 711772 | Human | | name |
| 151801449 | CV1436793 | single nucleotide variant | NM_015158.5(KANK1):c.1607C>T (p.Thr536Met) | not provided [RCV001973944]|not specified [RCV004042355] | uncertain significance | 9 | 712373 | 712373 | Human | | name |
| 151724066 | CV1436990 | single nucleotide variant | NM_015158.5(KANK1):c.1658C>G (p.Pro553Arg) | not provided [RCV002004050] | uncertain significance | 9 | 712424 | 712424 | Human | | name |
| 151759057 | CV1443746 | single nucleotide variant | NM_015158.5(KANK1):c.1633A>G (p.Asn545Asp) | not provided [RCV001873026] | uncertain significance | 9 | 712399 | 712399 | Human | | name |
| 151813369 | CV1447910 | single nucleotide variant | NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV002478375]|not provided [RCV001918836] | uncertain significance | 9 | 713132 | 713132 | Human | 1 | name |
| 151811325 | CV1448602 | single nucleotide variant | NM_015158.5(KANK1):c.1039A>G (p.Ile347Val) | not provided [RCV001974803] | uncertain significance | 9 | 711805 | 711805 | Human | | name |
| 151811452 | CV1448646 | single nucleotide variant | NM_015158.5(KANK1):c.2845A>G (p.Thr949Ala) | not provided [RCV001974815]|not specified [RCV004043048] | uncertain significance | 9 | 730197 | 730197 | Human | | name |
| 151805589 | CV1457146 | single nucleotide variant | NM_015158.5(KANK1):c.2669T>A (p.Phe890Tyr) | not provided [RCV001877770] | uncertain significance | 9 | 713435 | 713435 | Human | | name |
| 151746076 | CV1457413 | single nucleotide variant | NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) | Cerebral palsy, spastic quadriplegic, 2 [RCV002490207]|not provided [RCV001947604] | uncertain significance | 9 | 713027 | 713027 | Human | 1 | name |
| 151751957 | CV1459092 | single nucleotide variant | NM_015158.5(KANK1):c.1663T>C (p.Cys555Arg) | not provided [RCV002043375] | uncertain significance | 9 | 712429 | 712429 | Human | | name |
| 151829916 | CV1465575 | single nucleotide variant | NM_015158.5(KANK1):c.2635T>C (p.Ser879Pro) | not provided [RCV002014211]|not specified [RCV004046687] | uncertain significance | 9 | 713401 | 713401 | Human | | name |
| 151749998 | CV1465591 | single nucleotide variant | NM_015158.5(KANK1):c.2059G>T (p.Glu687Ter) | not provided [RCV002043192] | uncertain significance | 9 | 712825 | 712825 | Human | | name |
| 151828814 | CV1468643 | single nucleotide variant | NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492253]|not provided [RCV002030596] | uncertain significance | 9 | 731190 | 731190 | Human | 1 | name |
| 151796211 | CV1476356 | single nucleotide variant | NM_015158.5(KANK1):c.2513A>G (p.Gln838Arg) | not provided [RCV001931888] | uncertain significance | 9 | 713279 | 713279 | Human | | name |
| 151733334 | CV1477516 | single nucleotide variant | NM_015158.5(KANK1):c.2951A>T (p.Asn984Ile) | not provided [RCV001967336]|not specified [RCV004041912] | uncertain significance | 9 | 731212 | 731212 | Human | | name |
| 151833457 | CV1478979 | single nucleotide variant | NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) | Cerebral palsy, spastic quadriplegic, 2 [RCV002482423]|not provided [RCV002050951] | uncertain significance | 9 | 712373 | 712373 | Human | 1 | name |
| 151839753 | CV1487672 | single nucleotide variant | NM_015158.5(KANK1):c.1885G>A (p.Gly629Ser) | not provided [RCV001935963] | uncertain significance | 9 | 712651 | 712651 | Human | | name |
| 151721606 | CV1488974 | single nucleotide variant | NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) | Cerebral palsy, spastic quadriplegic, 2 [RCV002486618]|not provided [RCV002040165]|not specified [RCV004045950] | uncertain significance | 9 | 711982 | 711982 | Human | 1 | name |
| 151739196 | CV1492289 | single nucleotide variant | NM_015158.5(KANK1):c.1624G>A (p.Val542Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV002478105]|not provided [RCV002042065] | uncertain significance | 9 | 712390 | 712390 | Human | 1 | name |
| 151765380 | CV1495813 | single nucleotide variant | NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) | Cerebral palsy, spastic quadriplegic, 2 [RCV002506884]|not provided [RCV001863551]|not specified [RCV004038970] | uncertain significance | 9 | 713108 | 713108 | Human | 1 | name |
| 151761250 | CV1496372 | single nucleotide variant | NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV002490107]|not provided [RCV001895346]|not specified [RCV004041230] | uncertain significance | 9 | 712829 | 712829 | Human | 1 | name |
| 151720273 | CV1496678 | single nucleotide variant | NM_015158.5(KANK1):c.1514C>G (p.Thr505Arg) | not provided [RCV001909616]|not specified [RCV004042813] | uncertain significance | 9 | 712280 | 712280 | Human | | name |
| 151825740 | CV1507181 | single nucleotide variant | NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479502]|not provided [RCV001955195] | uncertain significance | 9 | 712026 | 712026 | Human | 1 | name |
| 151800184 | CV1509449 | single nucleotide variant | NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV002482467]|not provided [RCV001867054] | uncertain significance | 9 | 712648 | 712648 | Human | 1 | name |
| 151797394 | CV1512848 | single nucleotide variant | NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) | Cerebral palsy, spastic quadriplegic, 2 [RCV002489962]|not provided [RCV001866811] | uncertain significance | 9 | 712919 | 712919 | Human | 1 | name |
| 152139322 | CV1533457 | single nucleotide variant | NM_015158.5(KANK1):c.2496G>C (p.Lys832Asn) | KANK1-related disorder [RCV004543766]|not provided [RCV002083942] | likely benign | 9 | 713262 | 713262 | Human | 1 | name , trait , alternate_id |
| 152153800 | CV1579376 | single nucleotide variant | NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) | Cerebral palsy, spastic quadriplegic, 2 [RCV002494488]|KANK1-related disorder [RCV004543901]|not provided [RCV002158583] | likely benign | 9 | 711962 | 711962 | Human | 1 | name , trait , alternate_id |
| 152131067 | CV1635313 | single nucleotide variant | NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) | Cerebral palsy, spastic quadriplegic, 2 [RCV002498095]|KANK1-related disorder [RCV004538761]|not provided [RCV002099492] | likely benign | 9 | 711869 | 711869 | Human | 1 | name , trait , alternate_id |
| 152035522 | CV1670160 | single nucleotide variant | NM_015158.5(KANK1):c.1710T>G (p.Ile570Met) | not provided [RCV002223694] | uncertain significance | 9 | 712476 | 712476 | Human | | name |
| 153349774 | CV1693948 | deletion | NM_015158.5(KANK1):c.3755del (p.Gly1252fs) | not provided [RCV002276193] | uncertain significance | 9 | 742261 | 742261 | Human | | name |
| 155706625 | CV1772682 | single nucleotide variant | NM_015158.5(KANK1):c.1171G>C (p.Glu391Gln) | not provided [RCV002300337] | uncertain significance | 9 | 711937 | 711937 | Human | | name |
| 155750006 | CV1774862 | single nucleotide variant | NM_015158.5(KANK1):c.1895A>G (p.Asp632Gly) | not provided [RCV002305252] | uncertain significance | 9 | 712661 | 712661 | Human | | name |
| 156390273 | CV1869793 | single nucleotide variant | NM_015158.5(KANK1):c.1678G>A (p.Val560Ile) | not provided [RCV003067940]|not specified [RCV004070305] | uncertain significance | 9 | 712444 | 712444 | Human | | name |
| 156368359 | CV1887736 | single nucleotide variant | NM_015158.5(KANK1):c.1457C>T (p.Thr486Ile) | not provided [RCV003092226] | uncertain significance | 9 | 712223 | 712223 | Human | | name |
| 156406375 | CV1894926 | single nucleotide variant | NM_015158.5(KANK1):c.2903C>T (p.Thr968Ile) | not provided [RCV003070339] | uncertain significance | 9 | 731164 | 731164 | Human | | name |
| 156313082 | CV1896531 | single nucleotide variant | NM_015158.5(KANK1):c.2432C>T (p.Pro811Leu) | not provided [RCV003088564] | uncertain significance | 9 | 713198 | 713198 | Human | | name |
| 156289983 | CV1897383 | single nucleotide variant | NM_015158.5(KANK1):c.1979C>T (p.Ala660Val) | not provided [RCV002598713]|not specified [RCV004927886] | likely benign|uncertain significance | 9 | 712745 | 712745 | Human | | name |
| 156182971 | CV1898203 | single nucleotide variant | NM_015158.5(KANK1):c.2176G>A (p.Asp726Asn) | not provided [RCV002595121] | uncertain significance | 9 | 712942 | 712942 | Human | | name |
| 156360492 | CV1904364 | single nucleotide variant | NM_015158.5(KANK1):c.1868A>G (p.Lys623Arg) | not provided [RCV002581691]|not specified [RCV004073355] | uncertain significance | 9 | 712634 | 712634 | Human | | name |
| 156370591 | CV1905214 | single nucleotide variant | NM_015158.5(KANK1):c.2809A>G (p.Ile937Val) | not provided [RCV002582383]|not specified [RCV004068778] | likely benign|uncertain significance | 9 | 730161 | 730161 | Human | | name |
| 156353971 | CV1910470 | single nucleotide variant | NM_015158.5(KANK1):c.1191G>T (p.Glu397Asp) | not provided [RCV002632188] | uncertain significance | 9 | 711957 | 711957 | Human | | name |
| 155961545 | CV1922516 | single nucleotide variant | NM_015158.5(KANK1):c.1984G>A (p.Val662Ile) | not provided [RCV002616756] | uncertain significance | 9 | 712750 | 712750 | Human | | name |
| 156352290 | CV1923527 | single nucleotide variant | NM_015158.5(KANK1):c.2471A>G (p.Asp824Gly) | KANK1-related disorder [RCV004538839]|not provided [RCV002650984] | likely benign|uncertain significance | 9 | 713237 | 713237 | Human | 1 | name , trait , alternate_id |
| 156419155 | CV1926126 | single nucleotide variant | NM_015158.5(KANK1):c.1591A>G (p.Met531Val) | not provided [RCV002612374] | uncertain significance | 9 | 712357 | 712357 | Human | | name |
| 156174189 | CV1927586 | single nucleotide variant | NM_015158.5(KANK1):c.2881G>A (p.Ala961Thr) | not provided [RCV002624813]|not specified [RCV004070843] | uncertain significance | 9 | 730233 | 730233 | Human | | name |
| 156394564 | CV1931052 | single nucleotide variant | NM_015158.5(KANK1):c.2062A>T (p.Thr688Ser) | not provided [RCV002654770] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 712828 | 712828 | Human | | name |
| 156361972 | CV1931746 | single nucleotide variant | NM_015158.5(KANK1):c.2416G>C (p.Glu806Gln) | not provided [RCV002632741] | uncertain significance | 9 | 713182 | 713182 | Human | | name |
| 156448949 | CV1948260 | single nucleotide variant | NM_015158.5(KANK1):c.1526C>T (p.Pro509Leu) | not provided [RCV003121057] | uncertain significance | 9 | 712292 | 712292 | Human | | name |
| 156174872 | CV1956513 | single nucleotide variant | NM_015158.5(KANK1):c.2621A>G (p.Asn874Ser) | not provided [RCV002573926] | uncertain significance | 9 | 713387 | 713387 | Human | | name |
| 156245257 | CV1956926 | single nucleotide variant | NM_015158.5(KANK1):c.2279G>A (p.Gly760Asp) | not provided [RCV002576363]|not specified [RCV004064397] | uncertain significance | 9 | 713045 | 713045 | Human | | name |
| 156264022 | CV1960778 | single nucleotide variant | NM_015158.5(KANK1):c.2761C>G (p.Gln921Glu) | not provided [RCV002576941] | uncertain significance | 9 | 730113 | 730113 | Human | | name |
| 156380935 | CV1964277 | single nucleotide variant | NM_015158.5(KANK1):c.1834G>A (p.Asp612Asn) | not provided [RCV002583161]|not specified [RCV004064450] | uncertain significance | 9 | 712600 | 712600 | Human | | name |
| 156198508 | CV1967970 | single nucleotide variant | NM_015158.5(KANK1):c.1501G>A (p.Val501Ile) | not provided [RCV002625647]|not specified [RCV004065689] | uncertain significance | 9 | 712267 | 712267 | Human | | name |
| 156283780 | CV1968094 | single nucleotide variant | NM_015158.5(KANK1):c.2765C>A (p.Thr922Lys) | not provided [RCV002598481] | uncertain significance | 9 | 730117 | 730117 | Human | | name |
| 155902243 | CV1975723 | single nucleotide variant | NM_015158.5(KANK1):c.1765T>C (p.Cys589Arg) | not provided [RCV002613458] | uncertain significance | 9 | 712531 | 712531 | Human | | name |
| 156416281 | CV1976506 | single nucleotide variant | NM_015158.5(KANK1):c.2074A>C (p.Ile692Leu) | not provided [RCV002589618] | uncertain significance | 9 | 712840 | 712840 | Human | | name |
| 155970393 | CV1978228 | single nucleotide variant | NM_015158.5(KANK1):c.1582G>A (p.Gly528Ser) | not provided [RCV002617153]|not specified [RCV004065696] | uncertain significance | 9 | 712348 | 712348 | Human | | name |
| 155918379 | CV1981077 | single nucleotide variant | NM_015158.5(KANK1):c.1147G>A (p.Asp383Asn) | not provided [RCV002614429] | uncertain significance | 9 | 711913 | 711913 | Human | | name |
| 156224936 | CV1981526 | single nucleotide variant | NM_015158.5(KANK1):c.1165T>G (p.Ser389Ala) | not provided [RCV002626584]|not specified [RCV004065927] | uncertain significance | 9 | 711931 | 711931 | Human | | name |
| 156164544 | CV1986125 | single nucleotide variant | NM_015158.5(KANK1):c.2894A>G (p.Tyr965Cys) | not provided [RCV002642529]|not specified [RCV004066657] | uncertain significance | 9 | 730246 | 730246 | Human | | name |
| 156083018 | CV1992859 | single nucleotide variant | NM_015158.5(KANK1):c.2884G>A (p.Ala962Thr) | not provided [RCV002638960] | uncertain significance | 9 | 730236 | 730236 | Human | | name |
| 156402967 | CV1992951 | single nucleotide variant | NM_015158.5(KANK1):c.2281G>A (p.Val761Met) | not provided [RCV002657753] | uncertain significance | 9 | 713047 | 713047 | Human | | name |
| 156100151 | CV2001018 | single nucleotide variant | NM_015158.5(KANK1):c.2956G>T (p.Asp986Tyr) | not provided [RCV002639551] | uncertain significance | 9 | 731217 | 731217 | Human | | name |
| 156142719 | CV2002831 | single nucleotide variant | NM_015158.5(KANK1):c.2674A>C (p.Lys892Gln) | not provided [RCV002663627] | uncertain significance | 9 | 713440 | 713440 | Human | | name |
| 156292277 | CV2009792 | single nucleotide variant | NM_015158.5(KANK1):c.2003C>G (p.Thr668Ser) | not provided [RCV002715704] | uncertain significance | 9 | 712769 | 712769 | Human | | name |
| 156401205 | CV2013375 | single nucleotide variant | NM_015158.5(KANK1):c.2947G>C (p.Gly983Arg) | not provided [RCV002726019] | uncertain significance | 9 | 731208 | 731208 | Human | | name |
| 156199065 | CV2034632 | single nucleotide variant | NM_015158.5(KANK1):c.1027G>A (p.Gly343Arg) | not provided [RCV002766168] | uncertain significance | 9 | 711793 | 711793 | Human | | name |
| 155945135 | CV2039557 | single nucleotide variant | NM_015158.5(KANK1):c.2017A>G (p.Thr673Ala) | not provided [RCV002775434] | uncertain significance | 9 | 712783 | 712783 | Human | | name |
| 155956881 | CV2040192 | single nucleotide variant | NM_015158.5(KANK1):c.2239G>C (p.Gly747Arg) | not provided [RCV002776063] | uncertain significance | 9 | 713005 | 713005 | Human | | name |
| 156108122 | CV2046079 | single nucleotide variant | NM_015158.5(KANK1):c.2159G>C (p.Gly720Ala) | not provided [RCV002785287] | uncertain significance | 9 | 712925 | 712925 | Human | | name |
| 156036432 | CV2052548 | single nucleotide variant | NM_015158.5(KANK1):c.1039A>C (p.Ile347Leu) | not provided [RCV002796267] | uncertain significance | 9 | 711805 | 711805 | Human | | name |
| 156236764 | CV2108883 | single nucleotide variant | NM_015158.5(KANK1):c.1009C>T (p.Arg337Trp) | not provided [RCV002933052]|not specified [RCV004632102] | uncertain significance | 9 | 711775 | 711775 | Human | | name |
| 156240174 | CV2109129 | single nucleotide variant | NM_015158.5(KANK1):c.1397A>G (p.Lys466Arg) | not provided [RCV002933172] | uncertain significance | 9 | 712163 | 712163 | Human | | name |
| 156196633 | CV2113715 | single nucleotide variant | NM_015158.5(KANK1):c.2420C>A (p.Ser807Tyr) | not provided [RCV002957234] | uncertain significance | 9 | 713186 | 713186 | Human | | name |
| 156354128 | CV2118985 | single nucleotide variant | NM_015158.5(KANK1):c.1010G>A (p.Arg337Gln) | not provided [RCV002966527]|not specified [RCV004068140] | uncertain significance | 9 | 711776 | 711776 | Human | | name |
| 156238842 | CV2119387 | single nucleotide variant | NM_015158.5(KANK1):c.2200C>T (p.Arg734Trp) | not provided [RCV002958794] | uncertain significance | 9 | 712966 | 712966 | Human | | name |
| 156219065 | CV2128142 | single nucleotide variant | NM_015158.5(KANK1):c.2663C>G (p.Pro888Arg) | not provided [RCV002958067]|not specified [RCV004067303] | uncertain significance | 9 | 713429 | 713429 | Human | | name |
| 155957578 | CV2141895 | single nucleotide variant | NM_015158.5(KANK1):c.2741C>T (p.Ser914Leu) | KANK1-related disorder [RCV004736237]|not provided [RCV002972211]|not specified [RCV004065112] | uncertain significance | 9 | 730093 | 730093 | Human | 1 | name , trait , alternate_id |
| 155941035 | CV2142939 | single nucleotide variant | NM_015158.5(KANK1):c.1283G>A (p.Gly428Glu) | not provided [RCV002994056]|not specified [RCV004065267] | uncertain significance | 9 | 712049 | 712049 | Human | | name |
| 10449890 | CV215403 | single nucleotide variant | NM_015158.5(KANK1):c.2486G>A (p.Arg829His) | not provided [RCV001853269]|not specified [RCV000203061] | uncertain significance | 9 | 713252 | 713252 | Human | | name |
| 156250591 | CV2162599 | single nucleotide variant | NM_015158.5(KANK1):c.2475C>G (p.His825Gln) | not provided [RCV003026325] | uncertain significance | 9 | 713241 | 713241 | Human | | name |
| 156234915 | CV2180673 | single nucleotide variant | NM_015158.5(KANK1):c.2306A>G (p.Asn769Ser) | not provided [RCV003043229] | uncertain significance | 9 | 713072 | 713072 | Human | | name |
| 155960877 | CV2183465 | single nucleotide variant | NM_015158.5(KANK1):c.2090A>G (p.Asn697Ser) | not provided [RCV003032930] | uncertain significance | 9 | 712856 | 712856 | Human | | name |
| 156283853 | CV2187017 | single nucleotide variant | NM_015158.5(KANK1):c.1567A>G (p.Arg523Gly) | not provided [RCV003044869] | uncertain significance | 9 | 712333 | 712333 | Human | | name |
| 156377259 | CV2189133 | single nucleotide variant | NM_015158.5(KANK1):c.2074A>G (p.Ile692Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV003134592]|not provided [RCV003050209]|not specified [RCV004070096] | likely benign|uncertain significance | 9 | 712840 | 712840 | Human | 1 | name |
| 156397753 | CV2197513 | single nucleotide variant | NM_015158.5(KANK1):c.1798T>A (p.Cys600Ser) | not specified [RCV004081239] | uncertain significance | 9 | 712564 | 712564 | Human | | name |
| 156187303 | CV2226674 | single nucleotide variant | NM_015158.5(KANK1):c.2831C>T (p.Pro944Leu) | not specified [RCV004101907] | uncertain significance | 9 | 730183 | 730183 | Human | | name |
| 156232612 | CV2227695 | single nucleotide variant | NM_015158.5(KANK1):c.2912A>G (p.Glu971Gly) | not specified [RCV004094085] | uncertain significance | 9 | 731173 | 731173 | Human | | name |
| 156050942 | CV2237881 | single nucleotide variant | NM_015158.5(KANK1):c.1774A>T (p.Ser592Cys) | not specified [RCV004109109] | uncertain significance | 9 | 712540 | 712540 | Human | | name |
| 156057980 | CV2239167 | single nucleotide variant | NM_015158.5(KANK1):c.1555G>T (p.Val519Leu) | not specified [RCV004112154] | uncertain significance | 9 | 712321 | 712321 | Human | | name |
| 155940883 | CV2294155 | single nucleotide variant | NM_015158.5(KANK1):c.2897C>T (p.Ala966Val) | not specified [RCV004149522] | likely benign | 9 | 731158 | 731158 | Human | | name |
| 156273034 | CV2323493 | single nucleotide variant | NM_015158.5(KANK1):c.2582C>T (p.Ser861Phe) | not specified [RCV004165701] | uncertain significance | 9 | 713348 | 713348 | Human | | name |
| 156308310 | CV2369907 | single nucleotide variant | NM_015158.5(KANK1):c.1616G>A (p.Gly539Glu) | not specified [RCV004208376] | uncertain significance | 9 | 712382 | 712382 | Human | | name |
| 156264569 | CV2388962 | single nucleotide variant | NM_015158.5(KANK1):c.1002G>T (p.Gln334His) | not specified [RCV004241961] | uncertain significance | 9 | 711768 | 711768 | Human | | name |
| 155928724 | CV2388964 | single nucleotide variant | NM_015158.5(KANK1):c.1003C>T (p.Leu335Phe) | not specified [RCV004241963] | uncertain significance | 9 | 711769 | 711769 | Human | | name |
| 156153563 | CV2394995 | single nucleotide variant | NM_015158.5(KANK1):c.2059G>A (p.Glu687Lys) | not provided [RCV003738356]|not specified [RCV004236689] | uncertain significance | 9 | 712825 | 712825 | Human | | name |
| 155969760 | CV2400792 | single nucleotide variant | NM_015158.5(KANK1):c.1730T>G (p.Met577Arg) | not specified [RCV004242452] | uncertain significance | 9 | 712496 | 712496 | Human | | name |
| 243057925 | CV2405578 | single nucleotide variant | NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr) | Cerebral palsy, spastic quadriplegic, 2 [RCV003133771] | uncertain significance | 9 | 712940 | 712940 | Human | 1 | name |
| 243053672 | CV2405579 | single nucleotide variant | NM_015158.5(KANK1):c.1225A>G (p.Met409Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV003131294]|not specified [RCV004246006] | uncertain significance | 9 | 711991 | 711991 | Human | 1 | name |
| 329390803 | CV2437282 | single nucleotide variant | NM_015158.5(KANK1):c.1573C>A (p.Gln525Lys) | not specified [RCV004256165] | uncertain significance | 9 | 712339 | 712339 | Human | | name |
| 329393919 | CV2449958 | single nucleotide variant | NM_015158.5(KANK1):c.1453A>T (p.Met485Leu) | not specified [RCV004269025] | uncertain significance | 9 | 712219 | 712219 | Human | | name |
| 401731922 | CV2674520 | single nucleotide variant | NM_015158.5(KANK1):c.1190A>G (p.Glu397Gly) | not specified [RCV004291399] | uncertain significance | 9 | 711956 | 711956 | Human | | name |
| 401734698 | CV2690656 | single nucleotide variant | NM_015158.5(KANK1):c.2258C>G (p.Ala753Gly) | not specified [RCV004298390] | uncertain significance | 9 | 713024 | 713024 | Human | | name |
| 401775531 | CV2692406 | single nucleotide variant | NM_015158.5(KANK1):c.1490C>G (p.Ser497Trp) | not specified [RCV004312169] | uncertain significance | 9 | 712256 | 712256 | Human | | name |
| 401760093 | CV2694920 | single nucleotide variant | NM_015158.5(KANK1):c.1885G>C (p.Gly629Arg) | not specified [RCV004301309] | uncertain significance | 9 | 712651 | 712651 | Human | | name |
| 401731047 | CV2707673 | single nucleotide variant | NM_015158.5(KANK1):c.1952A>C (p.Asn651Thr) | not specified [RCV004306933] | uncertain significance | 9 | 712718 | 712718 | Human | | name |
| 401734237 | CV2709418 | single nucleotide variant | NM_015158.5(KANK1):c.1735G>A (p.Asp579Asn) | not provided [RCV005061194]|not specified [RCV004318674] | uncertain significance | 9 | 712501 | 712501 | Human | | name |
| 401779464 | CV2718566 | single nucleotide variant | NM_015158.5(KANK1):c.2435A>C (p.Gln812Pro) | not specified [RCV004318365] | uncertain significance | 9 | 713201 | 713201 | Human | | name |
| 401743877 | CV2726186 | single nucleotide variant | NM_015158.5(KANK1):c.1233C>A (p.Asp411Glu) | not specified [RCV004326663] | uncertain significance | 9 | 711999 | 711999 | Human | | name |
| 11638252 | CV274625 | single nucleotide variant | NM_015158.5(KANK1):c.1417G>A (p.Glu473Lys) | not provided [RCV000300034] | uncertain significance | 9 | 712183 | 712183 | Human | | name |
| 401897969 | CV2769875 | single nucleotide variant | NM_015158.5(KANK1):c.1892G>A (p.Gly631Glu) | not specified [RCV004353724] | uncertain significance | 9 | 712658 | 712658 | Human | | name |
| 401879307 | CV2773009 | single nucleotide variant | NM_015158.5(KANK1):c.2223G>C (p.Leu741Phe) | not specified [RCV004351461] | uncertain significance | 9 | 712989 | 712989 | Human | | name |
| 401926917 | CV2796767 | single nucleotide variant | NM_015158.5(KANK1):c.2335A>G (p.Ile779Val) | KANK1-related disorder [RCV004528629] | uncertain significance | 9 | 713101 | 713101 | Human | | name , trait , alternate_id |
| 401913541 | CV2797547 | single nucleotide variant | NM_015158.5(KANK1):c.2118G>T (p.Gln706His) | KANK1-related disorder [RCV004531709] | uncertain significance | 9 | 712884 | 712884 | Human | | name , trait , alternate_id |
| 405088807 | CV2859181 | single nucleotide variant | NM_015158.5(KANK1):c.1462C>G (p.Leu488Val) | not provided [RCV003549756] | uncertain significance | 9 | 712228 | 712228 | Human | | name |
| 405214978 | CV2876038 | single nucleotide variant | NM_015158.5(KANK1):c.1739G>A (p.Arg580Gln) | not provided [RCV003553100] | uncertain significance | 9 | 712505 | 712505 | Human | | name |
| 402494271 | CV2890434 | single nucleotide variant | NM_015158.5(KANK1):c.1448G>A (p.Arg483Gln) | not provided [RCV003573219]|not specified [RCV004927923] | likely benign|uncertain significance | 9 | 712214 | 712214 | Human | | name |
| 405128640 | CV2893383 | single nucleotide variant | NM_015158.5(KANK1):c.2079G>T (p.Glu693Asp) | not provided [RCV003559822] | uncertain significance | 9 | 712845 | 712845 | Human | | name |
| 405187662 | CV2917728 | single nucleotide variant | NM_015158.5(KANK1):c.2086A>C (p.Thr696Pro) | not provided [RCV003564585] | uncertain significance | 9 | 712852 | 712852 | Human | | name |
| 405124482 | CV2942405 | single nucleotide variant | NM_015158.5(KANK1):c.1304A>G (p.Asn435Ser) | not provided [RCV003671625] | uncertain significance | 9 | 712070 | 712070 | Human | | name |
| 405124141 | CV2942495 | single nucleotide variant | NM_015158.5(KANK1):c.1250G>A (p.Arg417Lys) | not provided [RCV003671682] | uncertain significance | 9 | 712016 | 712016 | Human | | name |
| 405115951 | CV2953243 | single nucleotide variant | NM_015158.5(KANK1):c.1625T>C (p.Val542Ala) | not provided [RCV003666921] | uncertain significance | 9 | 712391 | 712391 | Human | | name |
| 405123426 | CV2954287 | single nucleotide variant | NM_015158.5(KANK1):c.2414G>A (p.Gly805Glu) | not provided [RCV003667686] | uncertain significance | 9 | 713180 | 713180 | Human | | name |
| 405137492 | CV2963254 | single nucleotide variant | NM_015158.5(KANK1):c.2240G>A (p.Gly747Glu) | not provided [RCV003668913] | uncertain significance | 9 | 713006 | 713006 | Human | | name |
| 405247083 | CV2966595 | single nucleotide variant | NM_015158.5(KANK1):c.1205C>T (p.Ala402Val) | not provided [RCV003685585] | uncertain significance | 9 | 711971 | 711971 | Human | | name |
| 405234036 | CV2975586 | single nucleotide variant | NM_015158.5(KANK1):c.1210G>T (p.Gly404Cys) | not provided [RCV003682735] | uncertain significance | 9 | 711976 | 711976 | Human | | name |
| 405200677 | CV2978878 | single nucleotide variant | NM_015158.5(KANK1):c.1277C>G (p.Ala426Gly) | not provided [RCV003678152] | uncertain significance | 9 | 712043 | 712043 | Human | | name |
| 405200782 | CV2978900 | single nucleotide variant | NM_015158.5(KANK1):c.1447C>T (p.Arg483Trp) | not provided [RCV003678161] | uncertain significance | 9 | 712213 | 712213 | Human | | name |
| 405239080 | CV2996964 | single nucleotide variant | NM_015158.5(KANK1):c.2713T>C (p.Tyr905His) | not provided [RCV003718783] | uncertain significance | 9 | 730065 | 730065 | Human | | name |
| 405249703 | CV3000844 | single nucleotide variant | NM_015158.5(KANK1):c.2236T>G (p.Ser746Ala) | not provided [RCV003721415] | uncertain significance | 9 | 713002 | 713002 | Human | | name |
| 405041195 | CV3007489 | deletion | NM_015158.5(KANK1):c.3237del (p.Arg1080fs) | not provided [RCV003696336] | uncertain significance | 9 | 732609 | 732609 | Human | | name |
| 405041594 | CV3007545 | single nucleotide variant | NM_015158.5(KANK1):c.2772G>C (p.Gln924His) | not provided [RCV003696365] | uncertain significance | 9 | 730124 | 730124 | Human | | name |
| 405181777 | CV3024377 | single nucleotide variant | NM_015158.5(KANK1):c.2485C>T (p.Arg829Cys) | not provided [RCV003705605]|not specified [RCV005356500] | likely benign|uncertain significance | 9 | 713251 | 713251 | Human | | name |
| 405182028 | CV3024402 | single nucleotide variant | NM_015158.5(KANK1):c.1699A>C (p.Asn567His) | not provided [RCV003705630] | uncertain significance | 9 | 712465 | 712465 | Human | | name |
| 405220367 | CV3032135 | single nucleotide variant | NM_015158.5(KANK1):c.1325A>G (p.Glu442Gly) | not provided [RCV003709880] | uncertain significance | 9 | 712091 | 712091 | Human | | name |
| 402512612 | CV3039760 | single nucleotide variant | NM_015158.5(KANK1):c.2075T>C (p.Ile692Thr) | not provided [RCV003715812] | uncertain significance | 9 | 712841 | 712841 | Human | | name |
| 405253821 | CV3045025 | single nucleotide variant | NM_015158.5(KANK1):c.1535T>C (p.Phe512Ser) | not provided [RCV003722710] | uncertain significance | 9 | 712301 | 712301 | Human | | name |
| 405093573 | CV3045591 | single nucleotide variant | NM_015158.5(KANK1):c.2980C>T (p.Leu994Phe) | not provided [RCV003717996] | uncertain significance | 9 | 731241 | 731241 | Human | | name |
| 405141722 | CV3046139 | single nucleotide variant | NM_015158.5(KANK1):c.2702A>T (p.Asn901Ile) | not provided [RCV003725703] | uncertain significance | 9 | 730054 | 730054 | Human | | name |
| 405103269 | CV3119661 | single nucleotide variant | NM_015158.5(KANK1):c.1483G>A (p.Ala495Thr) | not provided [RCV003811923] | uncertain significance | 9 | 712249 | 712249 | Human | | name |
| 405178220 | CV3123539 | single nucleotide variant | NM_015158.5(KANK1):c.1558G>A (p.Val520Met) | not provided [RCV003819748] | likely benign | 9 | 712324 | 712324 | Human | | name |
| 405109130 | CV3136715 | single nucleotide variant | NM_015158.5(KANK1):c.2917A>T (p.Thr973Ser) | not provided [RCV003835869] | uncertain significance | 9 | 731178 | 731178 | Human | | name |
| 405068159 | CV3140145 | single nucleotide variant | NM_015158.5(KANK1):c.1508A>G (p.Lys503Arg) | not provided [RCV003833300] | uncertain significance | 9 | 712274 | 712274 | Human | | name |
| 405065447 | CV3144817 | single nucleotide variant | NM_015158.5(KANK1):c.2200C>G (p.Arg734Gly) | not provided [RCV003850594] | uncertain significance | 9 | 712966 | 712966 | Human | | name |
| 405054153 | CV3151384 | single nucleotide variant | NM_015158.5(KANK1):c.1195C>T (p.Arg399Trp) | KANK1-related disorder [RCV004539171]|not provided [RCV003849793] | uncertain significance | 9 | 711961 | 711961 | Human | 1 | name , trait , alternate_id |
| 405200405 | CV3164553 | single nucleotide variant | NM_015158.5(KANK1):c.1723G>A (p.Val575Met) | not provided [RCV003860610] | uncertain significance | 9 | 712489 | 712489 | Human | | name |
| 402484365 | CV3171253 | single nucleotide variant | NM_015158.5(KANK1):c.1968C>A (p.Ser656Arg) | not provided [RCV003876280] | uncertain significance | 9 | 712734 | 712734 | Human | | name |
| 402472623 | CV3171714 | single nucleotide variant | NM_015158.5(KANK1):c.1051G>A (p.Glu351Lys) | not provided [RCV003874498] | uncertain significance | 9 | 711817 | 711817 | Human | | name |
| 404983099 | CV3184282 | single nucleotide variant | NM_015158.5(KANK1):c.1936G>A (p.Ala646Thr) | not provided [RCV003880774] | uncertain significance | 9 | 712702 | 712702 | Human | | name |
| 405264415 | CV3189951 | single nucleotide variant | NM_015158.5(KANK1):c.1561C>A (p.Gln521Lys) | KANK1-related disorder [RCV004534459] | uncertain significance | 9 | 712327 | 712327 | Human | | name , trait , alternate_id |
| 405268785 | CV3201151 | single nucleotide variant | NM_015158.5(KANK1):c.1576A>T (p.Met526Leu) | KANK1-related disorder [RCV004531850] | uncertain significance | 9 | 712342 | 712342 | Human | | name , trait , alternate_id |
| 405274609 | CV3208954 | single nucleotide variant | NM_015158.5(KANK1):c.1915G>A (p.Val639Ile) | KANK1-related disorder [RCV004542372] | likely benign | 9 | 712681 | 712681 | Human | | name , trait , alternate_id |
| 405287899 | CV3217983 | single nucleotide variant | NM_015158.5(KANK1):c.2724G>C (p.Lys908Asn) | KANK1-related disorder [RCV004542575]|not specified [RCV005358080] | uncertain significance | 9 | 730076 | 730076 | Human | 1 | name , trait , alternate_id |
| 405699679 | CV3227223 | single nucleotide variant | NM_015158.5(KANK1):c.1507A>G (p.Lys503Glu) | Cerebral palsy, spastic quadriplegic, 2 [RCV003993574] | uncertain significance | 9 | 712273 | 712273 | Human | 1 | name |
| 405690443 | CV3227395 | single nucleotide variant | NM_015158.5(KANK1):c.2918C>T (p.Thr973Ile) | Cerebral palsy, spastic quadriplegic, 2 [RCV003991739] | uncertain significance | 9 | 731179 | 731179 | Human | 1 | name |
| 405801551 | CV3271788 | single nucleotide variant | NM_015158.5(KANK1):c.1069G>A (p.Val357Ile) | not specified [RCV004403486] | uncertain significance | 9 | 711835 | 711835 | Human | | name |
| 405801553 | CV3271789 | single nucleotide variant | NM_015158.5(KANK1):c.1165T>C (p.Ser389Pro) | not specified [RCV004403487] | uncertain significance | 9 | 711931 | 711931 | Human | | name |
| 405801561 | CV3271793 | single nucleotide variant | NM_015158.5(KANK1):c.1721G>C (p.Arg574Thr) | not specified [RCV004403491] | uncertain significance | 9 | 712487 | 712487 | Human | | name |
| 405801566 | CV3271795 | single nucleotide variant | NM_015158.5(KANK1):c.1886G>C (p.Gly629Ala) | not specified [RCV004403493] | uncertain significance | 9 | 712652 | 712652 | Human | | name |
| 405801568 | CV3271796 | single nucleotide variant | NM_015158.5(KANK1):c.2014G>A (p.Asp672Asn) | not specified [RCV004403494] | uncertain significance | 9 | 712780 | 712780 | Human | | name |
| 405801570 | CV3271797 | single nucleotide variant | NM_015158.5(KANK1):c.2026G>T (p.Asp676Tyr) | not specified [RCV004403495] | uncertain significance | 9 | 712792 | 712792 | Human | | name |
| 405801572 | CV3271798 | single nucleotide variant | NM_015158.5(KANK1):c.2075T>A (p.Ile692Lys) | not specified [RCV004403496] | uncertain significance | 9 | 712841 | 712841 | Human | | name |
| 405801574 | CV3271799 | single nucleotide variant | NM_015158.5(KANK1):c.2144G>A (p.Arg715Gln) | not specified [RCV004403497] | uncertain significance | 9 | 712910 | 712910 | Human | | name |
| 405801576 | CV3271800 | single nucleotide variant | NM_015158.5(KANK1):c.2168G>A (p.Arg723His) | not provided [RCV005065047]|not specified [RCV004403498] | uncertain significance | 9 | 712934 | 712934 | Human | | name |
| 405801578 | CV3271801 | single nucleotide variant | NM_015158.5(KANK1):c.2624C>G (p.Ser875Cys) | not provided [RCV005104487]|not specified [RCV004403499] | uncertain significance | 9 | 713390 | 713390 | Human | | name |
| 405801584 | CV3271804 | single nucleotide variant | NM_015158.5(KANK1):c.2822A>T (p.Asp941Val) | not specified [RCV004403502] | uncertain significance | 9 | 730174 | 730174 | Human | | name |
| 407467269 | CV3448222 | single nucleotide variant | NM_015158.5(KANK1):c.1411C>T (p.Arg471Cys) | not specified [RCV004635850] | uncertain significance | 9 | 712177 | 712177 | Human | | name |
| 407467273 | CV3448223 | single nucleotide variant | NM_015158.5(KANK1):c.1616G>C (p.Gly539Ala) | not specified [RCV004635851] | uncertain significance | 9 | 712382 | 712382 | Human | | name |
| 407467276 | CV3448224 | single nucleotide variant | NM_015158.5(KANK1):c.1356C>G (p.Asp452Glu) | not specified [RCV004635852] | uncertain significance | 9 | 712122 | 712122 | Human | | name |
| 407467298 | CV3448229 | single nucleotide variant | NM_015158.5(KANK1):c.1331T>C (p.Met444Thr) | not specified [RCV004635857] | uncertain significance | 9 | 712097 | 712097 | Human | | name |
| 407467307 | CV3448231 | single nucleotide variant | NM_015158.5(KANK1):c.2645C>T (p.Thr882Ile) | not specified [RCV004635859] | uncertain significance | 9 | 713411 | 713411 | Human | | name |
| 407467312 | CV3448232 | single nucleotide variant | NM_015158.5(KANK1):c.2441A>C (p.Gln814Pro) | not specified [RCV004635860] | uncertain significance | 9 | 713207 | 713207 | Human | | name |
| 407467321 | CV3448234 | single nucleotide variant | NM_015158.5(KANK1):c.2164G>T (p.Gly722Cys) | not specified [RCV004635862] | uncertain significance | 9 | 712930 | 712930 | Human | | name |
| 408380628 | CV3501223 | single nucleotide variant | NM_015158.5(KANK1):c.2846C>G (p.Thr949Arg) | not provided [RCV004727312] | uncertain significance | 9 | 730198 | 730198 | Human | | name |
| 408379715 | CV3507117 | single nucleotide variant | NM_015158.5(KANK1):c.1451A>T (p.Glu484Val) | KANK1-related disorder [RCV004728543] | uncertain significance | 9 | 712217 | 712217 | Human | | name , trait , alternate_id |
| 408369020 | CV3507497 | single nucleotide variant | NM_015158.5(KANK1):c.1423C>T (p.Gln475Ter) | KANK1-related disorder [RCV004736483] | uncertain significance | 9 | 712189 | 712189 | Human | | name , trait , alternate_id |
| 408368692 | CV3513526 | single nucleotide variant | NM_015158.5(KANK1):c.1136A>G (p.Gln379Arg) | KANK1-related disorder [RCV004735286] | uncertain significance | 9 | 711902 | 711902 | Human | | name , trait , alternate_id |
| 12850133 | CV363800 | single nucleotide variant | NM_015158.5(KANK1):c.2479A>G (p.Ile827Val) | not provided [RCV000441945] | uncertain significance | 9 | 713245 | 713245 | Human | | name |
| 597778129 | CV3691577 | single nucleotide variant | NM_015158.5(KANK1):c.1102C>T (p.Arg368Trp) | not specified [RCV004930056] | likely benign | 9 | 711868 | 711868 | Human | | name |
| 597778150 | CV3691582 | single nucleotide variant | NM_015158.5(KANK1):c.2278G>C (p.Gly760Arg) | not specified [RCV004930061] | uncertain significance | 9 | 713044 | 713044 | Human | | name |
| 597778159 | CV3691584 | single nucleotide variant | NM_015158.5(KANK1):c.1166C>T (p.Ser389Phe) | not specified [RCV004930063] | likely benign | 9 | 711932 | 711932 | Human | | name |
| 597778179 | CV3691589 | single nucleotide variant | NM_015158.5(KANK1):c.2635T>A (p.Ser879Thr) | not specified [RCV004930068] | uncertain significance | 9 | 713401 | 713401 | Human | | name |
| 597778187 | CV3691591 | single nucleotide variant | NM_015158.5(KANK1):c.1825T>C (p.Ser609Pro) | not specified [RCV004930070] | uncertain significance | 9 | 712591 | 712591 | Human | | name |
| 597778191 | CV3691592 | single nucleotide variant | NM_015158.5(KANK1):c.1874T>G (p.Val625Gly) | not specified [RCV004930071] | uncertain significance | 9 | 712640 | 712640 | Human | | name |
| 597778206 | CV3691596 | single nucleotide variant | NM_015158.5(KANK1):c.1642G>A (p.Gly548Ser) | not provided [RCV005110389]|not specified [RCV004930075] | uncertain significance | 9 | 712408 | 712408 | Human | | name |
| 597903379 | CV3741615 | single nucleotide variant | NM_015158.5(KANK1):c.2288A>C (p.Gln763Pro) | not provided [RCV005072586] | uncertain significance | 9 | 713054 | 713054 | Human | | name |
| 597970574 | CV3750292 | single nucleotide variant | NM_015158.5(KANK1):c.2788G>C (p.Gly930Arg) | not provided [RCV005084233] | uncertain significance | 9 | 730140 | 730140 | Human | | name |
| 597932556 | CV3789827 | single nucleotide variant | NM_015158.5(KANK1):c.1150A>G (p.Ser384Gly) | not provided [RCV005131906] | uncertain significance | 9 | 711916 | 711916 | Human | | name |
| 597974942 | CV3798633 | single nucleotide variant | NM_015158.5(KANK1):c.2678C>A (p.Thr893Asn) | not provided [RCV005144221] | uncertain significance | 9 | 713444 | 713444 | Human | | name |
| 597971706 | CV3802667 | single nucleotide variant | NM_015158.5(KANK1):c.2978A>G (p.Asn993Ser) | not provided [RCV005142265] | uncertain significance | 9 | 731239 | 731239 | Human | | name |
| 597937048 | CV3807765 | single nucleotide variant | NM_015158.5(KANK1):c.2916T>G (p.Ser972Arg) | not provided [RCV005158144] | uncertain significance | 9 | 731177 | 731177 | Human | | name |
| 597856598 | CV3816599 | single nucleotide variant | NM_015158.5(KANK1):c.2833A>C (p.Thr945Pro) | not provided [RCV005146172] | uncertain significance | 9 | 730185 | 730185 | Human | | name |
| 597976354 | CV3829572 | single nucleotide variant | NM_015158.5(KANK1):c.1539T>A (p.Ser513Arg) | not provided [RCV005169839] | uncertain significance | 9 | 712305 | 712305 | Human | | name |
| 597975263 | CV3832304 | single nucleotide variant | NM_015158.5(KANK1):c.1199C>A (p.Ser400Tyr) | not provided [RCV005169041] | uncertain significance | 9 | 711965 | 711965 | Human | | name |
| 597895523 | CV3833692 | single nucleotide variant | NM_015158.5(KANK1):c.2245G>A (p.Asp749Asn) | not provided [RCV005180384] | uncertain significance | 9 | 713011 | 713011 | Human | | name |
| 597929120 | CV3837389 | single nucleotide variant | NM_015158.5(KANK1):c.2872G>A (p.Asp958Asn) | not provided [RCV005185547] | uncertain significance | 9 | 730224 | 730224 | Human | | name |
| 597953861 | CV3844282 | single nucleotide variant | NM_015158.5(KANK1):c.2465G>C (p.Gly822Ala) | not provided [RCV005190955] | uncertain significance | 9 | 713231 | 713231 | Human | | name |
| 597934060 | CV3844806 | single nucleotide variant | NM_015158.5(KANK1):c.2201G>A (p.Arg734Gln) | not provided [RCV005186312] | uncertain significance | 9 | 712967 | 712967 | Human | | name |
| 597875019 | CV3846426 | single nucleotide variant | NM_015158.5(KANK1):c.1240G>A (p.Val414Met) | not provided [RCV005177309] | uncertain significance | 9 | 712006 | 712006 | Human | | name |
| 597943294 | CV3847646 | single nucleotide variant | NM_015158.5(KANK1):c.1460A>G (p.Lys487Arg) | not provided [RCV005188374] | uncertain significance | 9 | 712226 | 712226 | Human | | name |
| 597943299 | CV3847647 | single nucleotide variant | NM_015158.5(KANK1):c.2228C>G (p.Ser743Cys) | not provided [RCV005188375] | uncertain significance | 9 | 712994 | 712994 | Human | | name |
| 597947818 | CV3852353 | single nucleotide variant | NM_015158.5(KANK1):c.2141C>T (p.Thr714Met) | not provided [RCV005189430] | uncertain significance | 9 | 712907 | 712907 | Human | | name |
| 597965989 | CV3859010 | single nucleotide variant | NM_015158.5(KANK1):c.1877G>A (p.Arg626Gln) | not provided [RCV005194405] | uncertain significance | 9 | 712643 | 712643 | Human | | name |
| 597919141 | CV3861652 | deletion | NM_015158.5(KANK1):c.3429del (p.Phe1143fs) | not provided [RCV005204808] | uncertain significance | 9 | 738377 | 738377 | Human | | name |
| 598129159 | CV3888452 | single nucleotide variant | NM_015158.5(KANK1):c.2621A>C (p.Asn874Thr) | not provided [RCV005244626] | uncertain significance | 9 | 713387 | 713387 | Human | | name |
| 12896655 | CV389871 | single nucleotide variant | NM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter) | not provided [RCV001861660]|not specified [RCV000455643] | uncertain significance | 9 | 711804 | 711804 | Human | | name |
| 598258933 | CV3979875 | single nucleotide variant | NM_015158.5(KANK1):c.1174C>G (p.Leu392Val) | not specified [RCV005347311] | uncertain significance | 9 | 711940 | 711940 | Human | | name |
| 598258938 | CV3979879 | single nucleotide variant | NM_015158.5(KANK1):c.2198C>G (p.Thr733Arg) | not specified [RCV005347312] | likely benign | 9 | 712964 | 712964 | Human | | name |
| 598258954 | CV3979883 | single nucleotide variant | NM_015158.5(KANK1):c.1286C>T (p.Thr429Ile) | not specified [RCV005347315] | uncertain significance | 9 | 712052 | 712052 | Human | | name |
| 598258957 | CV3979884 | single nucleotide variant | NM_015158.5(KANK1):c.2617A>G (p.Ile873Val) | not specified [RCV005347316] | uncertain significance | 9 | 713383 | 713383 | Human | | name |
| 598212356 | CV3979888 | single nucleotide variant | NM_015158.5(KANK1):c.1744G>C (p.Ala582Pro) | not specified [RCV005358815] | likely benign | 9 | 712510 | 712510 | Human | | name |
| 598199563 | CV4007329 | single nucleotide variant | NM_015158.5(KANK1):c.2351C>G (p.Pro784Arg) | Cerebral palsy, spastic quadriplegic, 2 [RCV005398157] | uncertain significance | 9 | 713117 | 713117 | Human | 1 | name |
| 12892783 | CV404783 | single nucleotide variant | NM_015158.5(KANK1):c.2933T>C (p.Met978Thr) | Cerebral palsy, spastic quadriplegic, 2 [RCV000477905] | likely pathogenic|uncertain significance | 9 | 731194 | 731194 | Human | 1 | name |
| 12906635 | CV415200 | single nucleotide variant | NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) | Cerebral palsy, spastic quadriplegic, 2 [RCV002489197]|not provided [RCV000489460]|not specified [RCV004023257] | uncertain significance | 9 | 712418 | 712418 | Human | 1 | name |
| 13627095 | CV425216 | single nucleotide variant | NM_015158.5(KANK1):c.2885C>T (p.Ala962Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV000655956] | uncertain significance | 9 | 730237 | 730237 | Human | 1 | name |
| 13462922 | CV438790 | single nucleotide variant | NM_015158.5(KANK1):c.1801G>A (p.Glu601Lys) | not provided [RCV000515083] | likely benign|conflicting interpretations of pathogenicity | 9 | 712567 | 712567 | Human | | name |
| 13462624 | CV439024 | single nucleotide variant | NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) | not provided [RCV000514494] | benign|likely benign | 9 | 712526 | 712526 | Human | | name |
| 13462113 | CV439839 | single nucleotide variant | NM_015158.5(KANK1):c.1360G>A (p.Glu454Lys) | not provided [RCV000515615] | uncertain significance | 9 | 712126 | 712126 | Human | | name |
| 13484479 | CV444511 | single nucleotide variant | NM_015158.5(KANK1):c.1579G>A (p.Val527Ile) | not provided [RCV000522345] | uncertain significance | 9 | 712345 | 712345 | Human | | name |
| 13481216 | CV444512 | single nucleotide variant | NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) | Cerebral palsy, spastic quadriplegic, 2 [RCV002481716]|KANK1-related disorder [RCV000709863]|not provided [RCV000521449] | uncertain significance|not provided | 9 | 712577 | 712577 | Human | 1 | name , trait , alternate_id |
| 13706432 | CV537532 | single nucleotide variant | NM_015158.5(KANK1):c.1697T>C (p.Met566Thr) | not provided [RCV000659114] | uncertain significance | 9 | 712463 | 712463 | Human | | name |
| 15123362 | CV712009 | single nucleotide variant | NM_015158.5(KANK1):c.2825C>A (p.Ala942Asp) | KANK1-related disorder [RCV004535926]|not provided [RCV000963227] | benign|likely benign | 9 | 730177 | 730177 | Human | 4 | name , trait , alternate_id |
| 15123362 | CV712009 | single nucleotide variant | NM_015158.5(KANK1):c.2825C>A (p.Ala942Asp) | KANK1-related disorder [RCV004535926]|not provided [RCV000963227] | benign|likely benign | 9 | 730177 | 730178 | Human | 4 | name , trait , alternate_id |
| 15151595 | CV723614 | single nucleotide variant | NM_015158.5(KANK1):c.1517T>C (p.Met506Thr) | not provided [RCV000879628] | likely benign | 9 | 712283 | 712283 | Human | | name |
| 15185393 | CV723615 | single nucleotide variant | NM_015158.5(KANK1):c.1600G>A (p.Val534Met) | Cerebral palsy, spastic quadriplegic, 2 [RCV002501423]|KANK1-related disorder [RCV004541805]|not provided [RCV000886683] | likely benign | 9 | 712366 | 712366 | Human | 1 | name , trait , alternate_id |
| 15099163 | CV723618 | single nucleotide variant | NM_015158.5(KANK1):c.2725T>G (p.Cys909Gly) | not provided [RCV000891895] | benign|likely benign | 9 | 730077 | 730077 | Human | | name |
| 15181300 | CV737175 | single nucleotide variant | NM_015158.5(KANK1):c.1988T>C (p.Met663Thr) | KANK1-related disorder [RCV004541924]|not provided [RCV000907551] | likely benign | 9 | 712754 | 712754 | Human | 1 | name , trait , alternate_id |
| 15125892 | CV737176 | single nucleotide variant | NM_015158.5(KANK1):c.1991C>T (p.Ala664Val) | not provided [RCV000896841] | benign | 9 | 712757 | 712757 | Human | | name |
| 15161792 | CV751753 | single nucleotide variant | NM_015158.5(KANK1):c.1732C>T (p.His578Tyr) | KANK1-related disorder [RCV004543477]|not provided [RCV000925757] | likely benign | 9 | 712498 | 712498 | Human | 1 | name , trait , alternate_id |
| 15126451 | CV751755 | single nucleotide variant | NM_015158.5(KANK1):c.2662C>G (p.Pro888Ala) | not provided [RCV000919328] | likely benign | 9 | 713428 | 713428 | Human | | name |
| 15177034 | CV767466 | single nucleotide variant | NM_015158.5(KANK1):c.2113A>G (p.Lys705Glu) | KANK1-related disorder [RCV004533576]|not provided [RCV000929059] | likely benign | 9 | 712879 | 712879 | Human | 1 | name , trait , alternate_id |
| 21069900 | CV796329 | single nucleotide variant | NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) | Cerebral palsy, spastic quadriplegic, 2 [RCV002505525]|not provided [RCV000999117]|not specified [RCV004030251] | uncertain significance | 9 | 712843 | 712843 | Human | 1 | name |
| 126770491 | CV1008701 | single nucleotide variant | NM_015158.5(KANK1):c.3182C>T (p.Ala1061Val) | not provided [RCV001322602] | uncertain significance | 9 | 732554 | 732554 | Human | | name |
| 127301043 | CV1156253 | single nucleotide variant | NM_015158.5(KANK1):c.3164T>C (p.Ile1055Thr) | not provided [RCV001514492] | benign | 9 | 732536 | 732536 | Human | | name |
| 151761411 | CV1346387 | single nucleotide variant | NM_015158.5(KANK1):c.3128C>T (p.Thr1043Ile) | not provided [RCV001970234] | uncertain significance | 9 | 732500 | 732500 | Human | | name |
| 151811970 | CV1346872 | single nucleotide variant | NM_015158.5(KANK1):c.3770G>A (p.Gly1257Glu) | not provided [RCV002048942] | uncertain significance | 9 | 742278 | 742278 | Human | | name |
| 151734346 | CV1354559 | single nucleotide variant | NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) | Cerebral palsy, spastic quadriplegic, 2 [RCV002482652]|not provided [RCV001892578]|not specified [RCV004041292] | uncertain significance | 9 | 742272 | 742272 | Human | 1 | name |
| 151723640 | CV1358292 | single nucleotide variant | NM_015158.5(KANK1):c.3454C>T (p.Arg1152Cys) | not provided [RCV001945249] | uncertain significance | 9 | 738405 | 738405 | Human | | name |
| 151867051 | CV1358780 | single nucleotide variant | NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492047]|not provided [RCV001939285]|not specified [RCV004927772] | likely benign|uncertain significance | 9 | 738333 | 738333 | Human | 1 | name |
| 151848379 | CV1362116 | single nucleotide variant | NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479532]|not provided [RCV001937025]|not specified [RCV005370061] | likely benign|uncertain significance | 9 | 742377 | 742377 | Human | 1 | name |
| 151808336 | CV1362744 | single nucleotide variant | NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) | Cerebral palsy, spastic quadriplegic, 2 [RCV002486594]|not provided [RCV001991584]|not specified [RCV004631909] | uncertain significance | 9 | 734783 | 734783 | Human | 1 | name |
| 151812427 | CV1376867 | single nucleotide variant | NM_015158.5(KANK1):c.3867G>C (p.Gln1289His) | not provided [RCV001900083]|not specified [RCV004039797] | uncertain significance | 9 | 742375 | 742375 | Human | | name |
| 151835191 | CV1394466 | single nucleotide variant | NM_015158.5(KANK1):c.3974A>G (p.Asn1325Ser) | not provided [RCV002051128] | uncertain significance | 9 | 744567 | 744567 | Human | | name |
| 151794027 | CV1394870 | single nucleotide variant | NM_015158.5(KANK1):c.3946A>G (p.Ile1316Val) | not provided [RCV001973315]|not specified [RCV004044717] | uncertain significance | 9 | 744539 | 744539 | Human | | name |
| 151727546 | CV1412735 | single nucleotide variant | NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) | Cerebral palsy, spastic quadriplegic, 2 [RCV002503619]|not provided [RCV001945712]|not specified [RCV004044172] | uncertain significance | 9 | 742388 | 742388 | Human | 1 | name |
| 151834484 | CV1413100 | single nucleotide variant | NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492100]|not provided [RCV002014637] | uncertain significance | 9 | 742241 | 742241 | Human | 1 | name |
| 151837645 | CV1417076 | single nucleotide variant | NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) | Cerebral palsy, spastic quadriplegic, 2 [RCV002497934]|not provided [RCV002014966]|not specified [RCV004042331] | uncertain significance | 9 | 744588 | 744588 | Human | 1 | name |
| 151806600 | CV1426255 | single nucleotide variant | NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479645]|not provided [RCV001974393]|not specified [RCV004042379] | uncertain significance | 9 | 732509 | 732509 | Human | 1 | name |
| 151806701 | CV1426268 | single nucleotide variant | NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) | Cerebral palsy, spastic quadriplegic, 2 [RCV002479646]|not provided [RCV001974401] | uncertain significance | 9 | 742350 | 742350 | Human | 1 | name |
| 151817579 | CV1427452 | single nucleotide variant | NM_015158.5(KANK1):c.3689C>G (p.Ala1230Gly) | not provided [RCV001878900] | uncertain significance | 9 | 740927 | 740927 | Human | | name |
| 151873533 | CV1430320 | single nucleotide variant | NM_015158.5(KANK1):c.3037T>A (p.Ser1013Thr) | not provided [RCV002035977] | uncertain significance | 9 | 732409 | 732409 | Human | | name |
| 151769764 | CV1451045 | single nucleotide variant | NM_015158.5(KANK1):c.3991T>C (p.Ser1331Pro) | not provided [RCV001929404] | uncertain significance | 9 | 744584 | 744584 | Human | | name |
| 151806144 | CV1453398 | single nucleotide variant | NM_015158.5(KANK1):c.3741A>G (p.Ile1247Met) | not provided [RCV001877821]|not specified [RCV005350695] | uncertain significance | 9 | 742249 | 742249 | Human | | name |
| 151761904 | CV1455947 | single nucleotide variant | NM_015158.5(KANK1):c.3994C>G (p.Pro1332Ala) | not provided [RCV002044378] | uncertain significance | 9 | 744587 | 744587 | Human | | name |
| 151839964 | CV1462894 | single nucleotide variant | NM_015158.5(KANK1):c.3050C>A (p.Ser1017Tyr) | not provided [RCV002031701] | uncertain significance | 9 | 732422 | 732422 | Human | | name |
| 151839985 | CV1462897 | single nucleotide variant | NM_015158.5(KANK1):c.3068A>G (p.Asp1023Gly) | not provided [RCV002031703] | uncertain significance | 9 | 732440 | 732440 | Human | | name |
| 151779928 | CV1473915 | single nucleotide variant | NM_015158.5(KANK1):c.3371G>A (p.Arg1124His) | not provided [RCV001864868]|not specified [RCV004039715] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 738322 | 738322 | Human | | name |
| 151852111 | CV1476096 | single nucleotide variant | NM_015158.5(KANK1):c.3374T>C (p.Val1125Ala) | not provided [RCV001996099]|not specified [RCV005350842] | likely benign|uncertain significance | 9 | 738325 | 738325 | Human | | name |
| 151777503 | CV1493165 | single nucleotide variant | NM_015158.5(KANK1):c.3350C>T (p.Thr1117Ile) | not provided [RCV001915568] | uncertain significance | 9 | 738301 | 738301 | Human | | name |
| 151778881 | CV1496657 | single nucleotide variant | NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) | Cerebral palsy, spastic quadriplegic, 2 [RCV002503569]|not provided [RCV001930241] | uncertain significance | 9 | 740846 | 740846 | Human | 1 | name |
| 151810311 | CV1497271 | single nucleotide variant | NM_015158.5(KANK1):c.3067G>A (p.Asp1023Asn) | not provided [RCV001974703]|not specified [RCV004042948] | uncertain significance | 9 | 732439 | 732439 | Human | | name |
| 151719988 | CV1498217 | single nucleotide variant | NM_015158.5(KANK1):c.3757C>T (p.Leu1253Phe) | not provided [RCV001965823] | uncertain significance | 9 | 742265 | 742265 | Human | | name |
| 151723941 | CV1500370 | single nucleotide variant | NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) | Cerebral palsy, spastic quadriplegic, 2 [RCV002490250]|not provided [RCV001910104] | uncertain significance | 9 | 738477 | 738477 | Human | 1 | name |
| 151824610 | CV1506976 | single nucleotide variant | NM_015158.5(KANK1):c.3619G>C (p.Ala1207Pro) | not provided [RCV001955097] | uncertain significance | 9 | 740857 | 740857 | Human | | name |
| 151828285 | CV1510106 | single nucleotide variant | NM_015158.5(KANK1):c.3815T>C (p.Met1272Thr) | not provided [RCV001920237] | uncertain significance | 9 | 742323 | 742323 | Human | | name |
| 152103255 | CV1574587 | single nucleotide variant | NM_015158.5(KANK1):c.3722C>T (p.Ala1241Val) | not provided [RCV002095806] | likely benign | 9 | 742230 | 742230 | Human | | name |
| 152042218 | CV1603401 | single nucleotide variant | NM_015158.5(KANK1):c.3484G>A (p.Gly1162Ser) | not provided [RCV002071168] | likely benign | 9 | 738435 | 738435 | Human | | name |
| 155685941 | CV1771086 | single nucleotide variant | NM_015158.5(KANK1):c.3685A>C (p.Lys1229Gln) | not provided [RCV002298965] | uncertain significance | 9 | 740923 | 740923 | Human | | name |
| 155743359 | CV1777501 | single nucleotide variant | NM_015158.5(KANK1):c.3514C>A (p.His1172Asn) | not provided [RCV002302992] | uncertain significance | 9 | 738465 | 738465 | Human | | name |
| 155748986 | CV1779033 | single nucleotide variant | NM_015158.5(KANK1):c.3091C>T (p.Pro1031Ser) | not provided [RCV002304135] | uncertain significance | 9 | 732463 | 732463 | Human | | name |
| 156398817 | CV1881176 | single nucleotide variant | NM_015158.5(KANK1):c.3106G>A (p.Glu1036Lys) | not provided [RCV003068929] | uncertain significance | 9 | 732478 | 732478 | Human | | name |
| 156093656 | CV1895756 | single nucleotide variant | NM_015158.5(KANK1):c.3467A>G (p.Asn1156Ser) | not provided [RCV003080319]|not specified [RCV004073181] | uncertain significance | 9 | 738418 | 738418 | Human | | name |
| 156025969 | CV1896262 | single nucleotide variant | NM_015158.5(KANK1):c.3694C>G (p.Gln1232Glu) | not provided [RCV003100426] | uncertain significance | 9 | 740932 | 740932 | Human | | name |
| 156316521 | CV1901262 | single nucleotide variant | NM_015158.5(KANK1):c.3526G>A (p.Glu1176Lys) | not provided [RCV002578981]|not specified [RCV004073425] | uncertain significance | 9 | 738477 | 738477 | Human | | name |
| 155953671 | CV1915199 | single nucleotide variant | NM_015158.5(KANK1):c.3886C>G (p.Leu1296Val) | not provided [RCV002616360] | uncertain significance | 9 | 742394 | 742394 | Human | | name |
| 156352323 | CV1923539 | single nucleotide variant | NM_015158.5(KANK1):c.3217G>C (p.Glu1073Gln) | not provided [RCV002650986]|not specified [RCV004070739] | likely benign|uncertain significance | 9 | 732589 | 732589 | Human | | name |
| 156434573 | CV1940117 | single nucleotide variant | NM_015158.5(KANK1):c.3643C>T (p.Arg1215Trp) | not provided [RCV003104529] | uncertain significance | 9 | 740881 | 740881 | Human | | name |
| 156054442 | CV1945142 | single nucleotide variant | NM_015158.5(KANK1):c.3131G>A (p.Arg1044Gln) | not provided [RCV003111733]|not specified [RCV004197400] | uncertain significance | 9 | 732503 | 732503 | Human | | name |
| 156447465 | CV1945419 | single nucleotide variant | NM_015158.5(KANK1):c.3931G>A (p.Ala1311Thr) | not provided [RCV003118993] | uncertain significance | 9 | 744524 | 744524 | Human | | name |
| 156328433 | CV1953131 | single nucleotide variant | NM_015158.5(KANK1):c.3832G>A (p.Gly1278Arg) | Cerebral palsy, spastic quadriplegic, 2 [RCV003989771]|not provided [RCV002579857]|not specified [RCV004927818] | uncertain significance | 9 | 742340 | 742340 | Human | 1 | name |
| 156385079 | CV1961171 | single nucleotide variant | NM_015158.5(KANK1):c.3050C>T (p.Ser1017Phe) | not provided [RCV002583430] | uncertain significance | 9 | 732422 | 732422 | Human | | name |
| 156314160 | CV1966638 | single nucleotide variant | NM_015158.5(KANK1):c.3416A>G (p.Tyr1139Cys) | KANK1-related disorder [RCV004534135]|not provided [RCV002578857] | uncertain significance | 9 | 738367 | 738367 | Human | 1 | name , trait , alternate_id |
| 156251483 | CV1993418 | single nucleotide variant | NM_015158.5(KANK1):c.3412G>T (p.Asp1138Tyr) | not provided [RCV002627465] | uncertain significance | 9 | 738363 | 738363 | Human | | name |
| 156245669 | CV1996556 | single nucleotide variant | NM_015158.5(KANK1):c.3959T>C (p.Leu1320Pro) | not provided [RCV002668083] | uncertain significance | 9 | 744552 | 744552 | Human | | name |
| 156149757 | CV2003136 | single nucleotide variant | NM_015158.5(KANK1):c.3247T>C (p.Tyr1083His) | not provided [RCV002663855] | uncertain significance | 9 | 734749 | 734749 | Human | | name |
| 156097196 | CV2004695 | single nucleotide variant | NM_015158.5(KANK1):c.3443C>G (p.Pro1148Arg) | not provided [RCV002639443] | uncertain significance | 9 | 738394 | 738394 | Human | | name |
| 155912426 | CV2011058 | single nucleotide variant | NM_015158.5(KANK1):c.3092C>T (p.Pro1031Leu) | not provided [RCV002681818] | uncertain significance | 9 | 732464 | 732464 | Human | | name |
| 156075782 | CV2011786 | single nucleotide variant | NM_015158.5(KANK1):c.3477C>G (p.Asp1159Glu) | not provided [RCV002705825] | uncertain significance | 9 | 738428 | 738428 | Human | | name |
| 156395668 | CV2012243 | single nucleotide variant | NM_015158.5(KANK1):c.3911C>T (p.Ala1304Val) | not provided [RCV002725523] | uncertain significance | 9 | 744504 | 744504 | Human | | name |
| 155906640 | CV2048213 | single nucleotide variant | NM_015158.5(KANK1):c.3236T>A (p.Ile1079Asn) | not provided [RCV002771302] | uncertain significance | 9 | 732608 | 732608 | Human | | name |
| 10411788 | CV205467 | single nucleotide variant | NM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys) | Abnormality of neuronal migration [RCV000201344] | benign|uncertain significance | 9 | 744585 | 744585 | Human | 1 | name |
| 156091378 | CV2057039 | single nucleotide variant | NM_015158.5(KANK1):c.3091C>G (p.Pro1031Ala) | not provided [RCV002824198] | uncertain significance | 9 | 732463 | 732463 | Human | | name |
| 155943818 | CV2062048 | single nucleotide variant | NM_015158.5(KANK1):c.3710C>T (p.Ala1237Val) | not provided [RCV002815862] | uncertain significance | 9 | 742218 | 742218 | Human | | name |
| 156164723 | CV2091641 | single nucleotide variant | NM_015158.5(KANK1):c.3871G>A (p.Gly1291Ser) | not provided [RCV002891132]|not specified [RCV004066045] | uncertain significance | 9 | 742379 | 742379 | Human | | name |
| 156309724 | CV2119909 | single nucleotide variant | NM_015158.5(KANK1):c.3941A>G (p.Lys1314Arg) | KANK1-related disorder [RCV004736234]|not provided [RCV002962549] | uncertain significance | 9 | 744534 | 744534 | Human | 1 | name , trait , alternate_id |
| 156223597 | CV2121695 | single nucleotide variant | NM_015158.5(KANK1):c.3625G>A (p.Glu1209Lys) | not provided [RCV002958240]|not specified [RCV004068045] | uncertain significance | 9 | 740863 | 740863 | Human | | name |
| 155937689 | CV2125830 | single nucleotide variant | NM_015158.5(KANK1):c.3448G>T (p.Val1150Phe) | not provided [RCV002971066]|not specified [RCV004068159] | uncertain significance | 9 | 738399 | 738399 | Human | | name |
| 156309445 | CV2133100 | single nucleotide variant | NM_015158.5(KANK1):c.3736C>T (p.Arg1246Trp) | not provided [RCV003011022] | uncertain significance | 9 | 742244 | 742244 | Human | | name |
| 156265963 | CV2189216 | single nucleotide variant | NM_015158.5(KANK1):c.3299T>C (p.Ile1100Thr) | not provided [RCV003044284] | uncertain significance | 9 | 734801 | 734801 | Human | | name |
| 156369220 | CV2190604 | single nucleotide variant | NM_015158.5(KANK1):c.3686A>T (p.Lys1229Ile) | not provided [RCV003066163] | uncertain significance | 9 | 740924 | 740924 | Human | | name |
| 156384076 | CV2220277 | single nucleotide variant | NM_015158.5(KANK1):c.3472G>A (p.Ala1158Thr) | not specified [RCV004095705] | uncertain significance | 9 | 738423 | 738423 | Human | | name |
| 155934099 | CV2229083 | single nucleotide variant | NM_015158.5(KANK1):c.3955C>G (p.Leu1319Val) | not specified [RCV004098854] | uncertain significance | 9 | 744548 | 744548 | Human | | name |
| 156242933 | CV2231468 | single nucleotide variant | NM_015158.5(KANK1):c.3980C>T (p.Ala1327Val) | not specified [RCV004096540] | uncertain significance | 9 | 744573 | 744573 | Human | | name |
| 156276472 | CV2255795 | single nucleotide variant | NM_015158.5(KANK1):c.3641T>G (p.Met1214Arg) | not specified [RCV004120169] | uncertain significance | 9 | 740879 | 740879 | Human | | name |
| 156034321 | CV2256652 | single nucleotide variant | NM_015158.5(KANK1):c.3298A>G (p.Ile1100Val) | not provided [RCV003546889]|not specified [RCV004118834] | uncertain significance | 9 | 734800 | 734800 | Human | | name |
| 155952558 | CV2264239 | single nucleotide variant | NM_015158.5(KANK1):c.3881G>A (p.Gly1294Asp) | not specified [RCV004138168] | uncertain significance | 9 | 742389 | 742389 | Human | | name |
| 156283064 | CV2291791 | single nucleotide variant | NM_015158.5(KANK1):c.3053C>A (p.Ser1018Tyr) | not specified [RCV004158330] | uncertain significance | 9 | 732425 | 732425 | Human | | name |
| 155941550 | CV2300870 | single nucleotide variant | NM_015158.5(KANK1):c.3323G>C (p.Ser1108Thr) | not specified [RCV004158073] | uncertain significance | 9 | 734825 | 734825 | Human | | name |
| 156068945 | CV2320529 | single nucleotide variant | NM_015158.5(KANK1):c.3620C>A (p.Ala1207Asp) | not specified [RCV004172156] | uncertain significance | 9 | 740858 | 740858 | Human | | name |
| 156356517 | CV2320802 | single nucleotide variant | NM_015158.5(KANK1):c.3436A>T (p.Ile1146Phe) | not specified [RCV004172638] | uncertain significance | 9 | 738387 | 738387 | Human | | name |
| 155924582 | CV2352107 | single nucleotide variant | NM_015158.5(KANK1):c.3213A>T (p.Glu1071Asp) | not provided [RCV003561139]|not specified [RCV004191199] | uncertain significance | 9 | 732585 | 732585 | Human | | name |
| 156345927 | CV2373001 | single nucleotide variant | NM_015158.5(KANK1):c.4043G>A (p.Arg1348Gln) | not provided [RCV003730367]|not specified [RCV004224032] | uncertain significance | 9 | 745219 | 745219 | Human | | name |
| 156265878 | CV2389109 | single nucleotide variant | NM_015158.5(KANK1):c.3100G>C (p.Glu1034Gln) | not specified [RCV004235443] | uncertain significance | 9 | 732472 | 732472 | Human | | name |
| 156160918 | CV2398229 | single nucleotide variant | NM_015158.5(KANK1):c.3422C>G (p.Ala1141Gly) | not specified [RCV004235143] | uncertain significance | 9 | 738373 | 738373 | Human | | name |
| 329385878 | CV2458515 | single nucleotide variant | NM_015158.5(KANK1):c.3103G>A (p.Glu1035Lys) | not specified [RCV004268208] | uncertain significance | 9 | 732475 | 732475 | Human | | name |
| 329402933 | CV2462037 | single nucleotide variant | NM_015158.5(KANK1):c.3758T>G (p.Leu1253Arg) | not specified [RCV004272215] | uncertain significance | 9 | 742266 | 742266 | Human | | name |
| 329374653 | CV2464228 | single nucleotide variant | NM_015158.5(KANK1):c.3890A>T (p.Glu1297Val) | not specified [RCV004273903] | uncertain significance | 9 | 742398 | 742398 | Human | | name |
| 329380172 | CV2466465 | single nucleotide variant | NM_015158.5(KANK1):c.4040A>T (p.His1347Leu) | not specified [RCV004274018] | uncertain significance | 9 | 745216 | 745216 | Human | | name |
| 329388201 | CV2468757 | single nucleotide variant | NM_015158.5(KANK1):c.3243G>C (p.Glu1081Asp) | not specified [RCV004280077] | uncertain significance | 9 | 732615 | 732615 | Human | | name |
| 401752537 | CV2682853 | single nucleotide variant | NM_015158.5(KANK1):c.3220C>T (p.Pro1074Ser) | not specified [RCV004283653] | uncertain significance | 9 | 732592 | 732592 | Human | | name |
| 401732354 | CV2698292 | single nucleotide variant | NM_015158.5(KANK1):c.3493G>A (p.Ala1165Thr) | not specified [RCV004304841] | uncertain significance | 9 | 738444 | 738444 | Human | | name |
| 401745069 | CV2698458 | single nucleotide variant | NM_015158.5(KANK1):c.3577A>C (p.Asn1193His) | not specified [RCV004298969] | uncertain significance | 9 | 740815 | 740815 | Human | | name |
| 401769938 | CV2718958 | single nucleotide variant | NM_015158.5(KANK1):c.3446A>G (p.Asp1149Gly) | not specified [RCV004322551] | uncertain significance | 9 | 738397 | 738397 | Human | | name |
| 401783865 | CV2724323 | single nucleotide variant | NM_015158.5(KANK1):c.4033C>A (p.Pro1345Thr) | not specified [RCV004328186] | uncertain significance | 9 | 745209 | 745209 | Human | | name |
| 11635990 | CV274627 | single nucleotide variant | NM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp) | Cerebral palsy, spastic quadriplegic, 2 [RCV002494893]|not provided [RCV000259968] | uncertain significance | 9 | 732502 | 732502 | Human | 1 | name |
| 401862601 | CV2762260 | single nucleotide variant | NM_015158.5(KANK1):c.3058G>A (p.Glu1020Lys) | not provided [RCV003777515]|not specified [RCV004335382] | uncertain significance | 9 | 732430 | 732430 | Human | | name |
| 401896306 | CV2773879 | single nucleotide variant | NM_015158.5(KANK1):c.3285A>C (p.Leu1095Phe) | not specified [RCV004358315] | uncertain significance | 9 | 734787 | 734787 | Human | | name |
| 401910927 | CV2828717 | single nucleotide variant | NM_015158.5(KANK1):c.3478G>A (p.Gly1160Ser) | not provided [RCV003425597] | uncertain significance | 9 | 738429 | 738429 | Human | | name |
| 401924253 | CV2828718 | single nucleotide variant | NM_015158.5(KANK1):c.4003C>T (p.Pro1335Ser) | not provided [RCV003435678] | uncertain significance | 9 | 745179 | 745179 | Human | | name |
| 402495823 | CV2875254 | single nucleotide variant | NM_015158.5(KANK1):c.3445G>C (p.Asp1149His) | not provided [RCV003545410]|not specified [RCV005363132] | likely benign|uncertain significance | 9 | 738396 | 738396 | Human | | name |
| 405124685 | CV2889409 | single nucleotide variant | NM_015158.5(KANK1):c.3732C>A (p.His1244Gln) | not provided [RCV003559363] | uncertain significance | 9 | 742240 | 742240 | Human | | name |
| 405026057 | CV2889823 | single nucleotide variant | NM_015158.5(KANK1):c.3391G>C (p.Ala1131Pro) | not provided [RCV003577989] | uncertain significance | 9 | 738342 | 738342 | Human | | name |
| 402524134 | CV2900120 | single nucleotide variant | NM_015158.5(KANK1):c.3902G>A (p.Gly1301Asp) | not provided [RCV003575955]|not specified [RCV004369323] | uncertain significance | 9 | 744495 | 744495 | Human | | name |
| 405055499 | CV2931953 | single nucleotide variant | NM_015158.5(KANK1):c.3020C>G (p.Ser1007Ter) | not provided [RCV003580101] | uncertain significance | 9 | 732392 | 732392 | Human | | name |
| 405100426 | CV2938239 | single nucleotide variant | NM_015158.5(KANK1):c.3148C>T (p.His1050Tyr) | not provided [RCV003665872] | uncertain significance | 9 | 732520 | 732520 | Human | | name |
| 405159473 | CV2956707 | single nucleotide variant | NM_015158.5(KANK1):c.3932C>T (p.Ala1311Val) | not provided [RCV003674506] | uncertain significance | 9 | 744525 | 744525 | Human | | name |
| 405147607 | CV2960105 | single nucleotide variant | NM_015158.5(KANK1):c.3901G>A (p.Gly1301Ser) | not provided [RCV003669815] | uncertain significance | 9 | 744494 | 744494 | Human | | name |
| 405189750 | CV2968492 | single nucleotide variant | NM_015158.5(KANK1):c.3949G>T (p.Ala1317Ser) | not provided [RCV003677095] | uncertain significance | 9 | 744542 | 744542 | Human | | name |
| 405216356 | CV2975297 | single nucleotide variant | NM_015158.5(KANK1):c.3548A>T (p.Asp1183Val) | not provided [RCV003679971] | uncertain significance | 9 | 738499 | 738499 | Human | | name |
| 405036376 | CV3016793 | single nucleotide variant | NM_015158.5(KANK1):c.3090T>A (p.Tyr1030Ter) | not provided [RCV003695976] | uncertain significance | 9 | 732462 | 732462 | Human | | name |
| 405180347 | CV3027676 | single nucleotide variant | NM_015158.5(KANK1):c.3508G>T (p.Val1170Leu) | not provided [RCV003705384] | uncertain significance | 9 | 738459 | 738459 | Human | | name |
| 405175089 | CV3052655 | single nucleotide variant | NM_015158.5(KANK1):c.3398C>T (p.Pro1133Leu) | not provided [RCV003728246]|not specified [RCV005363231] | likely benign|uncertain significance | 9 | 738349 | 738349 | Human | | name |
| 405155243 | CV3064759 | single nucleotide variant | NM_015158.5(KANK1):c.3737G>A (p.Arg1246Gln) | not provided [RCV003726698] | uncertain significance | 9 | 742245 | 742245 | Human | | name |
| 405175230 | CV3123005 | single nucleotide variant | NM_015158.5(KANK1):c.3161A>C (p.Asn1054Thr) | not provided [RCV003819403] | uncertain significance | 9 | 732533 | 732533 | Human | | name |
| 405142704 | CV3125911 | single nucleotide variant | NM_015158.5(KANK1):c.3448G>A (p.Val1150Ile) | not provided [RCV003816826] | uncertain significance | 9 | 738399 | 738399 | Human | | name |
| 404977187 | CV3127082 | single nucleotide variant | NM_015158.5(KANK1):c.3994C>T (p.Pro1332Ser) | not provided [RCV003825305] | uncertain significance | 9 | 744587 | 744587 | Human | | name |
| 405125484 | CV3132699 | single nucleotide variant | NM_015158.5(KANK1):c.3050C>G (p.Ser1017Cys) | not provided [RCV003837862]|not specified [RCV005363281] | likely benign|uncertain significance | 9 | 732422 | 732422 | Human | | name |
| 405218310 | CV3135695 | single nucleotide variant | NM_015158.5(KANK1):c.3616G>A (p.Ala1206Thr) | not provided [RCV003824320] | uncertain significance | 9 | 740854 | 740854 | Human | | name |
| 405044287 | CV3141542 | single nucleotide variant | NM_015158.5(KANK1):c.3573C>G (p.His1191Gln) | not provided [RCV003831643] | uncertain significance | 9 | 740811 | 740811 | Human | | name |
| 405044306 | CV3141543 | single nucleotide variant | NM_015158.5(KANK1):c.3640A>C (p.Met1214Leu) | not provided [RCV003831644] | uncertain significance | 9 | 740878 | 740878 | Human | | name |
| 405209475 | CV3145736 | single nucleotide variant | NM_015158.5(KANK1):c.3649G>A (p.Val1217Met) | not provided [RCV003845466] | uncertain significance | 9 | 740887 | 740887 | Human | | name |
| 405197266 | CV3146721 | single nucleotide variant | NM_015158.5(KANK1):c.3525C>A (p.Phe1175Leu) | not provided [RCV003844076] | uncertain significance | 9 | 738476 | 738476 | Human | | name |
| 405230833 | CV3153944 | single nucleotide variant | NM_015158.5(KANK1):c.3631G>A (p.Glu1211Lys) | not provided [RCV003848812] | uncertain significance | 9 | 740869 | 740869 | Human | | name |
| 404991320 | CV3176223 | single nucleotide variant | NM_015158.5(KANK1):c.3428T>C (p.Phe1143Ser) | not provided [RCV003881548] | uncertain significance | 9 | 738379 | 738379 | Human | | name |
| 405264429 | CV3190008 | single nucleotide variant | NM_015158.5(KANK1):c.3707C>T (p.Thr1236Met) | KANK1-related disorder [RCV004534470] | uncertain significance | 9 | 742215 | 742215 | Human | | name , trait , alternate_id |
| 405285443 | CV3212472 | single nucleotide variant | NM_015158.5(KANK1):c.3133G>A (p.Gly1045Arg) | KANK1-related disorder [RCV004544062]|not provided [RCV005064865] | uncertain significance | 9 | 732505 | 732505 | Human | 1 | name , trait , alternate_id |
| 405801586 | CV3271805 | single nucleotide variant | NM_015158.5(KANK1):c.3122A>G (p.Glu1041Gly) | not specified [RCV004403503] | uncertain significance | 9 | 732494 | 732494 | Human | | name |
| 405801591 | CV3271807 | single nucleotide variant | NM_015158.5(KANK1):c.3387G>C (p.Lys1129Asn) | not specified [RCV004403505] | uncertain significance | 9 | 738338 | 738338 | Human | | name |
| 405801593 | CV3271808 | single nucleotide variant | NM_015158.5(KANK1):c.3607G>A (p.Ala1203Thr) | not specified [RCV004403506] | uncertain significance | 9 | 740845 | 740845 | Human | | name |
| 405801595 | CV3271809 | single nucleotide variant | NM_015158.5(KANK1):c.3611C>T (p.Ala1204Val) | not specified [RCV004403507] | uncertain significance | 9 | 740849 | 740849 | Human | | name |
| 407467285 | CV3448226 | single nucleotide variant | NM_015158.5(KANK1):c.3637G>A (p.Asp1213Asn) | not specified [RCV004635854] | uncertain significance | 9 | 740875 | 740875 | Human | | name |
| 407467289 | CV3448227 | single nucleotide variant | NM_015158.5(KANK1):c.3496C>G (p.Leu1166Val) | not specified [RCV004635855] | uncertain significance | 9 | 738447 | 738447 | Human | | name |
| 407467302 | CV3448230 | single nucleotide variant | NM_015158.5(KANK1):c.3692G>A (p.Ser1231Asn) | not specified [RCV004635858] | uncertain significance | 9 | 740930 | 740930 | Human | | name |
| 407467316 | CV3448233 | single nucleotide variant | NM_015158.5(KANK1):c.4020G>T (p.Lys1340Asn) | not specified [RCV004635861] | uncertain significance | 9 | 745196 | 745196 | Human | | name |
| 597778124 | CV3691576 | single nucleotide variant | NM_015158.5(KANK1):c.3644G>A (p.Arg1215Gln) | not specified [RCV004930055] | likely benign | 9 | 740882 | 740882 | Human | | name |
| 597778133 | CV3691578 | single nucleotide variant | NM_015158.5(KANK1):c.3800G>A (p.Gly1267Asp) | not specified [RCV004930057] | uncertain significance | 9 | 742308 | 742308 | Human | | name |
| 597778142 | CV3691580 | single nucleotide variant | NM_015158.5(KANK1):c.3814A>G (p.Met1272Val) | not specified [RCV004930059] | uncertain significance | 9 | 742322 | 742322 | Human | | name |
| 597778155 | CV3691583 | single nucleotide variant | NM_015158.5(KANK1):c.3701G>A (p.Gly1234Glu) | not specified [RCV004930062] | uncertain significance | 9 | 742209 | 742209 | Human | | name |
| 597778170 | CV3691587 | single nucleotide variant | NM_015158.5(KANK1):c.3114G>C (p.Glu1038Asp) | not specified [RCV004930066] | uncertain significance | 9 | 732486 | 732486 | Human | | name |
| 597844802 | CV3736177 | single nucleotide variant | NM_015158.5(KANK1):c.3712C>G (p.Leu1238Val) | not provided [RCV005065525] | uncertain significance | 9 | 742220 | 742220 | Human | | name |
| 597919841 | CV3738007 | single nucleotide variant | NM_015158.5(KANK1):c.3574C>G (p.Gln1192Glu) | not provided [RCV005074606] | uncertain significance | 9 | 740812 | 740812 | Human | | name |
| 597969991 | CV3753478 | single nucleotide variant | NM_015158.5(KANK1):c.3182C>G (p.Ala1061Gly) | not provided [RCV005083963] | uncertain significance | 9 | 732554 | 732554 | Human | | name |
| 597832940 | CV3760347 | single nucleotide variant | NM_015158.5(KANK1):c.3868C>G (p.Pro1290Ala) | not provided [RCV005085090] | uncertain significance | 9 | 742376 | 742376 | Human | | name |
| 597858520 | CV3769640 | single nucleotide variant | NM_015158.5(KANK1):c.3889G>C (p.Glu1297Gln) | not provided [RCV005105682] | uncertain significance | 9 | 742397 | 742397 | Human | | name |
| 597931605 | CV3780384 | single nucleotide variant | NM_015158.5(KANK1):c.3092C>G (p.Pro1031Arg) | not provided [RCV005116704] | uncertain significance | 9 | 732464 | 732464 | Human | | name |
| 597931613 | CV3780385 | single nucleotide variant | NM_015158.5(KANK1):c.3161A>T (p.Asn1054Ile) | not provided [RCV005116705] | uncertain significance | 9 | 732533 | 732533 | Human | | name |
| 597882767 | CV3784149 | single nucleotide variant | NM_015158.5(KANK1):c.3311A>G (p.Lys1104Arg) | not provided [RCV005124437] | uncertain significance | 9 | 734813 | 734813 | Human | | name |
| 597906403 | CV3785137 | single nucleotide variant | NM_015158.5(KANK1):c.3281A>C (p.Asn1094Thr) | not provided [RCV005127980] | uncertain significance | 9 | 734783 | 734783 | Human | | name |
| 597971156 | CV3802464 | single nucleotide variant | NM_015158.5(KANK1):c.3506G>C (p.Ser1169Thr) | not provided [RCV005142062] | uncertain significance | 9 | 738457 | 738457 | Human | | name |
| 597956309 | CV3809664 | single nucleotide variant | NM_015158.5(KANK1):c.3317T>G (p.Leu1106Trp) | not provided [RCV005162390] | uncertain significance | 9 | 734819 | 734819 | Human | | name |
| 597862580 | CV3822682 | single nucleotide variant | NM_015158.5(KANK1):c.3990G>C (p.Gln1330His) | not provided [RCV005175214] | uncertain significance | 9 | 744583 | 744583 | Human | | name |
| 597918037 | CV3842190 | single nucleotide variant | NM_015158.5(KANK1):c.3536A>G (p.Lys1179Arg) | not provided [RCV005183865] | uncertain significance | 9 | 738487 | 738487 | Human | | name |
| 597897708 | CV3854419 | single nucleotide variant | NM_015158.5(KANK1):c.3335G>C (p.Arg1112Thr) | not provided [RCV005201526] | uncertain significance | 9 | 738286 | 738286 | Human | | name |
| 12858896 | CV389139 | single nucleotide variant | NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met) | Abnormal brain morphology [RCV000454209] | likely pathogenic | 9 | 732609 | 732609 | Human | 1 | name |
| 598233898 | CV3979877 | single nucleotide variant | NM_015158.5(KANK1):c.3923C>T (p.Ala1308Val) | not specified [RCV005363430] | uncertain significance | 9 | 744516 | 744516 | Human | | name |
| 598233921 | CV3979887 | single nucleotide variant | NM_015158.5(KANK1):c.3564T>A (p.Asn1188Lys) | not specified [RCV005363434] | uncertain significance | 9 | 740802 | 740802 | Human | | name |
| 616939505 | CV4013999 | single nucleotide variant | NM_015158.5(KANK1):c.3995C>A (p.Pro1332Gln) | not provided [RCV005413491] | uncertain significance | 9 | 744588 | 744588 | Human | | name |
| 617152429 | CV4018073 | single nucleotide variant | NM_015158.5(KANK1):c.3418A>C (p.Ile1140Leu) | not specified [RCV005417863] | uncertain significance | 9 | 738369 | 738369 | Human | | name |
| 13509712 | CV481860 | single nucleotide variant | NM_015158.5(KANK1):c.3202C>T (p.Gln1068Ter) | not provided [RCV000578682] | uncertain significance | 9 | 732574 | 732574 | Human | | name |
| 13832371 | CV582865 | single nucleotide variant | NM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter) | not provided [RCV000723058] | uncertain significance | 9 | 738312 | 738312 | Human | | name |
| 13832372 | CV582866 | single nucleotide variant | NM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter) | not provided [RCV000723059] | uncertain significance | 9 | 732484 | 732484 | Human | | name |
| 15158639 | CV712014 | single nucleotide variant | NM_015158.5(KANK1):c.3647T>C (p.Ile1216Thr) | not provided [RCV000969554] | benign|likely benign | 9 | 740885 | 740885 | Human | | name |
| 15123368 | CV712015 | single nucleotide variant | NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) | KANK1-related disorder [RCV004535927]|Rare genetic intellectual disability [RCV001257027]|not provided [RCV000963228] | likely benign|uncertain significance | 9 | 742280 | 742280 | Human | 1 | name , trait , alternate_id |
| 15156054 | CV712016 | single nucleotide variant | NM_015158.5(KANK1):c.3878A>G (p.Asn1293Ser) | KANK1-related disorder [RCV004535950]|not provided [RCV000969038] | likely benign | 9 | 742386 | 742386 | Human | 1 | name , trait , alternate_id |
| 151754178 | CV1343097 | microsatellite | NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) | Cerebral palsy, spastic quadriplegic, 2 [RCV002486753]|not provided [RCV002043589] | uncertain significance | 9 | 711356 | 711358 | Human | | name |
| 156211982 | CV2028455 | duplication | NM_015158.5(KANK1):c.504_514dup (p.Met172fs) | not provided [RCV002711798] | uncertain significance | 9 | 711268 | 711269 | Human | | name |
| 401902524 | CV2802106 | indel | NM_015158.5(KANK1):c.1_2delinsTG (p.Met1Trp) | KANK1-related disorder [RCV004534232] | uncertain significance | 9 | 676973 | 676974 | Human | | name , trait , alternate_id |
| 405128049 | CV2893214 | microsatellite | NM_015158.5(KANK1):c.297CAA[1] (p.Asn100del) | not provided [RCV003559767] | uncertain significance | 9 | 711062 | 711064 | Human | | name |
| 151744546 | CV1428032 | microsatellite | NM_015158.5(KANK1):c.2610GTC[1] (p.Ser872del) | not provided [RCV001926813] | uncertain significance | 9 | 713376 | 713378 | Human | | name |
| 152173691 | CV1655758 | microsatellite | NM_015158.5(KANK1):c.3105GGA[4] (p.Glu1039del) | KANK1-related disorder [RCV004545241]|not provided [RCV002184260] | likely benign | 9 | 732475 | 732477 | Human | | name , trait , alternate_id |
| 156166313 | CV1971518 | microsatellite | NM_015158.5(KANK1):c.3099AGA[1] (p.Glu1039del) | not provided [RCV002594635] | likely benign | 9 | 732469 | 732471 | Human | | name |
| 597899295 | CV3740923 | deletion | NM_015158.5(KANK1):c.2910_2913del (p.Asn970fs) | not provided [RCV005072086] | uncertain significance | 9 | 731169 | 731172 | Human | | name |
| 13521224 | CV495426 | deletion | NM_015158.5(KANK1):c.1469_1470del (p.Gln490fs) | not provided [RCV000599285] | uncertain significance | 9 | 712235 | 712236 | Human | | name |
| 15180814 | CV712011 | microsatellite | NM_015158.5(KANK1):c.3105GGA[6] (p.Glu1039dup) | KANK1-related disorder [RCV004535980]|not provided [RCV000974242] | likely benign | 9 | 732474 | 732475 | Human | | name , trait , alternate_id |
| 151802880 | CV1354423 | deletion | NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) | Cerebral palsy, spastic quadriplegic, 2 [RCV002478123]|not provided [RCV001867286] | uncertain significance | 9 | 712584 | 712586 | Human | 1 | name |
| 151860720 | CV1374105 | deletion | NM_015158.5(KANK1):c.1867_1869del (p.Lys623del) | not provided [RCV001938506] | uncertain significance | 9 | 712633 | 712635 | Human | | name |
| 405126400 | CV2882790 | deletion | NM_015158.5(KANK1):c.1485_1487del (p.Gly496del) | not provided [RCV003559611] | uncertain significance | 9 | 712251 | 712253 | Human | | name |
| 405213340 | CV3142661 | microsatellite | NM_015158.5(KANK1):c.3244_3245del (p.Arg1082fs) | not provided [RCV003846018] | uncertain significance | 9 | 732610 | 732611 | Human | | name |
| 13832369 | CV582863 | duplication | NM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3]) | not provided [RCV000723056] | uncertain significance | 9 | 732486 | 732487 | Human | | name |
| 151731149 | CV1425766 | deletion | NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) | Cerebral palsy, spastic quadriplegic, 2 [RCV002492104]|not provided [RCV002004788] | uncertain significance | 9 | 740870 | 740872 | Human | 1 | name |
| 156117065 | CV2017094 | deletion | NM_015158.5(KANK1):c.3776_3778del (p.Asp1259del) | not provided [RCV002740055] | uncertain significance | 9 | 742282 | 742284 | Human | | name |
| 151793675 | CV1372471 | microsatellite | NM_015158.5(KANK1):c.4059_*3dup (p.Phe1351_Ter1353=) | not provided [RCV001973282] | uncertain significance | 9 | 745227 | 745228 | Human | | name |
| 151709624 | CV1409322 | microsatellite | NM_015158.5(KANK1):c.3105GGA[3] (p.Glu1038_Glu1039del) | not provided [RCV001907714] | uncertain significance | 9 | 732475 | 732480 | Human | | name |
| 151744448 | CV1427766 | microsatellite | NM_015158.5(KANK1):c.3105GGA[7] (p.Glu1038_Glu1039dup) | not provided [RCV001893611] | uncertain significance | 9 | 732474 | 732475 | Human | | name |
| 152025868 | CV1627673 | duplication | NM_015158.5(KANK1):c.1277_1282dup (p.Ala426_Val427dup) | KANK1-related disorder [RCV004543856]|not provided [RCV002104356] | benign|likely benign | 9 | 712040 | 712041 | Human | 1 | name , trait , alternate_id |
| 597898538 | CV3740835 | deletion | NM_015158.5(KANK1):c.1130_1138del (p.Leu377_Lys380delinsGln) | not provided [RCV005071998] | uncertain significance | 9 | 711896 | 711904 | Human | | name |
| 597831568 | CV3830815 | indel | NM_015158.5(KANK1):c.633_634delinsTA (p.Gln211_Leu212delinsHisIle) | not provided [RCV005170213] | uncertain significance | 9 | 711399 | 711400 | Human | | name |
| 401906105 | CV2802390 | duplication | NM_015158.3:c.3554_3556dupATG | KANK1-related condition [RCV003421046] | uncertain significance | | | | Human | | trait |