| 405291662 | CV3205914 | single nucleotide variant | NM_004527.4(MEOX1):c.-9G>A | MEOX1-related disorder [RCV003964026] | likely benign | 17 | 43661543 | 43661543 | Human | | name , trait , alternate_id |
| 152123227 | CV1546131 | single nucleotide variant | NM_004527.4(MEOX1):c.642+4C>A | not provided [RCV002118113] | benign | 17 | 43643484 | 43643484 | Human | | name |
| 405000143 | CV3120148 | single nucleotide variant | NM_004527.4(MEOX1):c.470-4C>T | not provided [RCV003827938] | likely benign | 17 | 43643664 | 43643664 | Human | | name |
| 597921707 | CV3861060 | single nucleotide variant | NM_004527.4(MEOX1):c.642+8C>T | not provided [RCV005196408] | likely benign | 17 | 43643480 | 43643480 | Human | | name |
| 152032663 | CV1546376 | single nucleotide variant | NM_004527.4(MEOX1):c.470-16G>A | not provided [RCV002124791] | benign | 17 | 43643676 | 43643676 | Human | | name |
| 156146012 | CV1954286 | single nucleotide variant | NM_004527.4(MEOX1):c.642+11G>A | not provided [RCV002572743] | likely benign|uncertain significance | 17 | 43643477 | 43643477 | Human | | name |
| 155901893 | CV2151593 | single nucleotide variant | NM_004527.4(MEOX1):c.642+17C>A | not provided [RCV003011682] | likely benign | 17 | 43643471 | 43643471 | Human | | name |
| 402505448 | CV3038985 | single nucleotide variant | NM_004527.4(MEOX1):c.643-11T>C | not provided [RCV003715151] | likely benign | 17 | 43642043 | 43642043 | Human | | name |
| 150512042 | CV1212901 | single nucleotide variant | NM_004527.4(MEOX1):c.469+218A>G | not provided [RCV001598133] | benign | 17 | 43660848 | 43660848 | Human | | name |
| 150516250 | CV1228285 | single nucleotide variant | NM_004527.4(MEOX1):c.643-220C>T | not provided [RCV001639091] | benign | 17 | 43642252 | 43642252 | Human | | name |
| 150506396 | CV1257329 | single nucleotide variant | NM_004527.4(MEOX1):c.470-174A>G | not provided [RCV001678168] | benign | 17 | 43643834 | 43643834 | Human | | name |
| 8585363 | CV119949 | single nucleotide variant | NM_001040002.1(MEOX1):c.124+7623C>T | Lung cancer [RCV000100469] | uncertain significance | 17 | 43653443 | 43653443 | Human | | name |
| 15124170 | CV740798 | single nucleotide variant | NM_004527.4(MEOX1):c.12G>A (p.Ala4=) | MEOX1-related disorder [RCV004757307]|not provided [RCV000896540] | likely benign | 17 | 43661523 | 43661523 | Human | 1 | name , trait , alternate_id |
| 151855977 | CV1401812 | single nucleotide variant | NM_004527.4(MEOX1):c.81G>A (p.Ser27=) | not provided [RCV002017182] | likely benign|uncertain significance | 17 | 43661454 | 43661454 | Human | | name |
| 15189343 | CV771559 | single nucleotide variant | NM_004527.4(MEOX1):c.90T>C (p.Asn30=) | not provided [RCV000932212] | likely benign | 17 | 43661445 | 43661445 | Human | | name |
| 152162958 | CV1593403 | single nucleotide variant | NM_004527.4(MEOX1):c.174G>A (p.Ala58=) | not provided [RCV002104146] | likely benign | 17 | 43661361 | 43661361 | Human | | name |
| 11550145 | CV256177 | single nucleotide variant | NM_004527.4(MEOX1):c.11C>T (p.Ala4Val) | not provided [RCV000887239]|not specified [RCV000251353] | benign | 17 | 43661524 | 43661524 | Human | | name |
| 405268597 | CV3201028 | single nucleotide variant | NM_004527.4(MEOX1):c.165G>A (p.Ala55=) | MEOX1-related disorder [RCV003899139] | likely benign | 17 | 43661370 | 43661370 | Human | | name , trait , alternate_id |
| 597837998 | CV3758130 | single nucleotide variant | NM_004527.4(MEOX1):c.120C>T (p.Pro40=) | not provided [RCV005085964] | likely benign | 17 | 43661415 | 43661415 | Human | | name |
| 597884342 | CV3819422 | single nucleotide variant | NM_004527.4(MEOX1):c.138C>T (p.His46=) | not provided [RCV005159232] | likely benign | 17 | 43661397 | 43661397 | Human | | name |
| 8570474 | CV48106 | deletion | NM_004527.4(MEOX1):c.94del (p.Ala32fs) | Klippel-Feil syndrome 2, autosomal recessive [RCV000032703] | pathogenic|likely pathogenic | 17 | 43661441 | 43661441 | Human | 1 | name |
| 13522845 | CV489981 | single nucleotide variant | NM_004527.4(MEOX1):c.126G>A (p.Pro42=) | MEOX1-related disorder [RCV004757255]|not provided [RCV000592257] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 43661409 | 43661409 | Human | 1 | name , trait , alternate_id |
| 15172045 | CV740796 | single nucleotide variant | NM_004527.4(MEOX1):c.258C>T (p.Pro86=) | not provided [RCV000905591] | likely benign | 17 | 43661277 | 43661277 | Human | | name |
| 15138857 | CV740797 | single nucleotide variant | NM_004527.4(MEOX1):c.189A>G (p.Ser63=) | not provided [RCV000899053] | likely benign | 17 | 43661346 | 43661346 | Human | | name |
| 126725201 | CV1018296 | deletion | NM_004527.4(MEOX1):c.125del (p.Pro42fs) | Klippel-Feil syndrome 2, autosomal recessive [RCV001331257] | pathogenic | 17 | 43661410 | 43661410 | Human | | name |
| 151782950 | CV1350117 | single nucleotide variant | NM_004527.4(MEOX1):c.68G>A (p.Arg23Gln) | not provided [RCV001989302] | uncertain significance | 17 | 43661467 | 43661467 | Human | | name |
| 151712584 | CV1370912 | single nucleotide variant | NM_004527.4(MEOX1):c.40C>A (p.Pro14Thr) | Inborn genetic diseases [RCV004039069]|not provided [RCV001908308] | uncertain significance | 17 | 43661495 | 43661495 | Human | 1 | name |
| 152131923 | CV1521824 | single nucleotide variant | NM_004527.4(MEOX1):c.726T>G (p.Pro242=) | not provided [RCV002199439] | likely benign | 17 | 43641949 | 43641949 | Human | | name |
| 152129610 | CV1549324 | single nucleotide variant | NM_004527.4(MEOX1):c.556C>T (p.Leu186=) | not provided [RCV002099304] | likely benign | 17 | 43643574 | 43643574 | Human | | name |
| 152062061 | CV1594438 | single nucleotide variant | NM_004527.4(MEOX1):c.606T>C (p.Tyr202=) | not provided [RCV002110230] | likely benign | 17 | 43643524 | 43643524 | Human | | name |
| 152136437 | CV1595142 | single nucleotide variant | NM_004527.4(MEOX1):c.681G>A (p.Lys227=) | not provided [RCV002200005] | likely benign | 17 | 43641994 | 43641994 | Human | | name |
| 152073702 | CV1660409 | single nucleotide variant | NM_004527.4(MEOX1):c.378C>T (p.Thr126=) | not provided [RCV002169623] | likely benign | 17 | 43661157 | 43661157 | Human | | name |
| 156007905 | CV1870566 | single nucleotide variant | NM_004527.4(MEOX1):c.393C>T (p.Gly131=) | not provided [RCV003076921] | benign | 17 | 43661142 | 43661142 | Human | | name |
| 156053886 | CV1974482 | single nucleotide variant | NM_004527.4(MEOX1):c.621C>T (p.Asn207=) | not provided [RCV002590748] | uncertain significance | 17 | 43643509 | 43643509 | Human | | name |
| 156124812 | CV2012316 | single nucleotide variant | NM_004527.4(MEOX1):c.65T>C (p.Leu22Pro) | not provided [RCV002696178] | uncertain significance | 17 | 43661470 | 43661470 | Human | | name |
| 155989230 | CV2066720 | single nucleotide variant | NM_004527.4(MEOX1):c.636G>A (p.Glu212=) | not provided [RCV002842888] | likely benign | 17 | 43643494 | 43643494 | Human | | name |
| 155961161 | CV2089032 | single nucleotide variant | NM_004527.4(MEOX1):c.588G>A (p.Leu196=) | not provided [RCV002881023] | likely benign | 17 | 43643542 | 43643542 | Human | | name |
| 155921422 | CV2102424 | single nucleotide variant | NM_004527.4(MEOX1):c.597C>T (p.Leu199=) | not provided [RCV002903373] | likely benign | 17 | 43643533 | 43643533 | Human | | name |
| 156040928 | CV2121573 | single nucleotide variant | NM_004527.4(MEOX1):c.537C>T (p.Thr179=) | not provided [RCV002923914] | likely benign | 17 | 43643593 | 43643593 | Human | | name |
| 156103494 | CV2149253 | single nucleotide variant | NM_004527.4(MEOX1):c.489G>A (p.Gly163=) | not provided [RCV003021133] | likely benign | 17 | 43643641 | 43643641 | Human | | name |
| 11545179 | CV256176 | single nucleotide variant | NM_004527.4(MEOX1):c.80C>T (p.Ser27Leu) | not provided [RCV001610648]|not specified [RCV000244787] | benign | 17 | 43661455 | 43661455 | Human | | name |
| 405176582 | CV2951975 | single nucleotide variant | NM_004527.4(MEOX1):c.663C>T (p.Asn221=) | not provided [RCV003675883] | likely benign | 17 | 43642012 | 43642012 | Human | | name |
| 405140176 | CV2961923 | single nucleotide variant | NM_004527.4(MEOX1):c.451C>A (p.Arg151=) | not provided [RCV003673156] | likely benign | 17 | 43661084 | 43661084 | Human | | name |
| 405232612 | CV2985379 | single nucleotide variant | NM_004527.4(MEOX1):c.708C>T (p.Ser236=) | not provided [RCV003711769] | likely benign | 17 | 43641967 | 43641967 | Human | | name |
| 405047533 | CV3137833 | single nucleotide variant | NM_004527.4(MEOX1):c.402C>T (p.Tyr134=) | not provided [RCV003831871] | likely benign | 17 | 43661133 | 43661133 | Human | | name |
| 405158057 | CV3159781 | single nucleotide variant | NM_004527.4(MEOX1):c.519G>A (p.Lys173=) | not provided [RCV003856852] | likely benign | 17 | 43643611 | 43643611 | Human | | name |
| 597917959 | CV3844117 | single nucleotide variant | NM_004527.4(MEOX1):c.741C>T (p.Ser247=) | not provided [RCV005192964] | likely benign | 17 | 43641934 | 43641934 | Human | | name |
| 15159327 | CV715477 | single nucleotide variant | NM_004527.4(MEOX1):c.444A>G (p.Ser148=) | not provided [RCV000969688] | benign | 17 | 43661091 | 43661091 | Human | | name |
| 15149353 | CV727197 | single nucleotide variant | NM_004527.4(MEOX1):c.327G>C (p.Pro109=) | not provided [RCV000879147] | benign | 17 | 43661208 | 43661208 | Human | | name |
| 15150737 | CV727198 | single nucleotide variant | NM_004527.4(MEOX1):c.327G>A (p.Pro109=) | not provided [RCV000879446] | benign | 17 | 43661208 | 43661208 | Human | | name |
| 15139696 | CV740793 | single nucleotide variant | NM_004527.4(MEOX1):c.729G>A (p.Glu243=) | not provided [RCV000899190] | likely benign | 17 | 43641946 | 43641946 | Human | | name |
| 15190256 | CV740794 | single nucleotide variant | NM_004527.4(MEOX1):c.690G>A (p.Lys230=) | Inborn genetic diseases [RCV004950041]|not provided [RCV000909895] | likely benign | 17 | 43641985 | 43641985 | Human | 1 | name |
| 151821576 | CV1354968 | single nucleotide variant | NM_004527.4(MEOX1):c.254A>C (p.His85Pro) | Inborn genetic diseases [RCV002562143]|not provided [RCV001934196] | uncertain significance | 17 | 43661281 | 43661281 | Human | 1 | name |
| 151804842 | CV1371885 | single nucleotide variant | NM_004527.4(MEOX1):c.269A>G (p.Gln90Arg) | not provided [RCV001953262] | uncertain significance | 17 | 43661266 | 43661266 | Human | | name |
| 151809647 | CV1483709 | single nucleotide variant | NM_004527.4(MEOX1):c.259G>A (p.Ala87Thr) | Inborn genetic diseases [RCV004042746]|not provided [RCV001918477] | uncertain significance | 17 | 43661276 | 43661276 | Human | 1 | name |
| 151711464 | CV1497382 | single nucleotide variant | NM_004527.4(MEOX1):c.190G>A (p.Ala64Thr) | not provided [RCV002002058] | uncertain significance | 17 | 43661345 | 43661345 | Human | | name |
| 9687378 | CV171847 | single nucleotide variant | NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter) | Klippel-Feil syndrome 2, autosomal recessive [RCV000149546] | pathogenic | 17 | 43661285 | 43661285 | Human | 1 | name |
| 156315735 | CV1901206 | single nucleotide variant | NM_004527.4(MEOX1):c.116C>T (p.Pro39Leu) | not provided [RCV002578940] | uncertain significance | 17 | 43661419 | 43661419 | Human | | name |
| 156223140 | CV2009279 | single nucleotide variant | NM_004527.4(MEOX1):c.279C>A (p.Asn93Lys) | Inborn genetic diseases [RCV005370278]|not provided [RCV002701082] | uncertain significance | 17 | 43661256 | 43661256 | Human | 1 | name |
| 156204440 | CV2063063 | deletion | NM_004527.4(MEOX1):c.736del (p.Asp246fs) | not provided [RCV002829060] | uncertain significance | 17 | 43641939 | 43641939 | Human | | name |
| 156192096 | CV2206233 | single nucleotide variant | NM_004527.4(MEOX1):c.253C>T (p.His85Tyr) | Inborn genetic diseases [RCV002665947] | uncertain significance | 17 | 43661282 | 43661282 | Human | 1 | name |
| 401741710 | CV2676508 | single nucleotide variant | NM_004527.4(MEOX1):c.191C>G (p.Ala64Gly) | Inborn genetic diseases [RCV003251517] | uncertain significance | 17 | 43661344 | 43661344 | Human | 1 | name |
| 401759099 | CV2712410 | single nucleotide variant | NM_004527.4(MEOX1):c.163G>A (p.Ala55Thr) | Inborn genetic diseases [RCV003299088] | uncertain significance | 17 | 43661372 | 43661372 | Human | 1 | name |
| 405693663 | CV3281992 | single nucleotide variant | NM_004527.4(MEOX1):c.184T>C (p.Phe62Leu) | Inborn genetic diseases [RCV004424144] | uncertain significance | 17 | 43661351 | 43661351 | Human | 1 | name |
| 597681944 | CV3556670 | single nucleotide variant | NM_004527.4(MEOX1):c.278A>G (p.Asn93Ser) | Inborn genetic diseases [RCV004952049] | uncertain significance | 17 | 43661257 | 43661257 | Human | 1 | name |
| 597926484 | CV3857176 | single nucleotide variant | NM_004527.4(MEOX1):c.282G>A (p.Trp94Ter) | Klippel-Feil syndrome 2, autosomal recessive [RCV005230869]|not provided [RCV005201040] | pathogenic|likely pathogenic | 17 | 43661253 | 43661253 | Human | 1 | name |
| 598226555 | CV3895818 | single nucleotide variant | NM_004527.4(MEOX1):c.268C>T (p.Gln90Ter) | Klippel-Feil syndrome 2, autosomal recessive [RCV005362110] | likely pathogenic | 17 | 43661267 | 43661267 | Human | 1 | name |
| 151816640 | CV1342297 | single nucleotide variant | NM_004527.4(MEOX1):c.308G>A (p.Arg103His) | Inborn genetic diseases [RCV004946945]|not provided [RCV001975322] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 43661227 | 43661227 | Human | 1 | name |
| 151722274 | CV1346365 | single nucleotide variant | NM_004527.4(MEOX1):c.505A>G (p.Ser169Gly) | not provided [RCV001966150] | uncertain significance | 17 | 43643625 | 43643625 | Human | | name |
| 151873349 | CV1359571 | single nucleotide variant | NM_004527.4(MEOX1):c.551G>A (p.Arg184Gln) | not provided [RCV002019227] | uncertain significance | 17 | 43643579 | 43643579 | Human | | name |
| 151804864 | CV1371887 | single nucleotide variant | NM_004527.4(MEOX1):c.502A>G (p.Ser168Gly) | not provided [RCV001953264] | uncertain significance | 17 | 43643628 | 43643628 | Human | | name |
| 151811401 | CV1376697 | single nucleotide variant | NM_004527.4(MEOX1):c.665G>A (p.Arg222Gln) | not provided [RCV001899988] | uncertain significance | 17 | 43642010 | 43642010 | Human | | name |
| 151811636 | CV1376725 | single nucleotide variant | NM_004527.4(MEOX1):c.317A>C (p.Asn106Thr) | not provided [RCV001900010] | uncertain significance | 17 | 43661218 | 43661218 | Human | | name |
| 151845076 | CV1381580 | single nucleotide variant | NM_004527.4(MEOX1):c.682C>T (p.Arg228Cys) | Inborn genetic diseases [RCV003365504]|not provided [RCV001881836] | uncertain significance | 17 | 43641993 | 43641993 | Human | 1 | name |
| 151767370 | CV1387741 | single nucleotide variant | NM_004527.4(MEOX1):c.503G>A (p.Ser168Asn) | Inborn genetic diseases [RCV004946961]|not provided [RCV001970841] | uncertain significance | 17 | 43643627 | 43643627 | Human | 1 | name |
| 151790483 | CV1399850 | single nucleotide variant | NM_004527.4(MEOX1):c.304C>T (p.Arg102Trp) | Inborn genetic diseases [RCV004955854]|not provided [RCV001916769] | uncertain significance | 17 | 43661231 | 43661231 | Human | 1 | name |
| 151772615 | CV1414213 | single nucleotide variant | NM_004527.4(MEOX1):c.305G>A (p.Arg102Gln) | not provided [RCV001874600] | uncertain significance | 17 | 43661230 | 43661230 | Human | | name |
| 151865081 | CV1443105 | single nucleotide variant | NM_004527.4(MEOX1):c.529G>T (p.Ala177Ser) | not provided [RCV002034955] | uncertain significance | 17 | 43643601 | 43643601 | Human | | name |
| 151804983 | CV1444276 | single nucleotide variant | NM_004527.4(MEOX1):c.494C>T (p.Pro165Leu) | not provided [RCV001918063] | uncertain significance | 17 | 43643636 | 43643636 | Human | | name |
| 151726774 | CV1445745 | single nucleotide variant | NM_004527.4(MEOX1):c.740C>T (p.Ser247Phe) | not provided [RCV002040781] | uncertain significance | 17 | 43641935 | 43641935 | Human | | name |
| 151741549 | CV1466823 | single nucleotide variant | NM_004527.4(MEOX1):c.356G>A (p.Ser119Asn) | not provided [RCV001911973] | uncertain significance | 17 | 43661179 | 43661179 | Human | | name |
| 151793203 | CV1467623 | single nucleotide variant | NM_004527.4(MEOX1):c.527C>T (p.Thr176Met) | Inborn genetic diseases [RCV004946903]|not provided [RCV001931617] | uncertain significance | 17 | 43643603 | 43643603 | Human | 1 | name |
| 151713554 | CV1476580 | single nucleotide variant | NM_004527.4(MEOX1):c.755G>A (p.Ser252Asn) | not provided [RCV001908499] | uncertain significance | 17 | 43641920 | 43641920 | Human | | name |
| 151791164 | CV1486194 | single nucleotide variant | NM_004527.4(MEOX1):c.301G>A (p.Ala101Thr) | Inborn genetic diseases [RCV004038909]|not provided [RCV002047125] | uncertain significance | 17 | 43661234 | 43661234 | Human | 1 | name |
| 151876757 | CV1490263 | single nucleotide variant | NM_004527.4(MEOX1):c.302C>A (p.Ala101Asp) | not provided [RCV001940488] | uncertain significance | 17 | 43661233 | 43661233 | Human | | name |
| 156295176 | CV1892358 | single nucleotide variant | NM_004527.4(MEOX1):c.614C>T (p.Ala205Val) | not provided [RCV003061628] | uncertain significance | 17 | 43643516 | 43643516 | Human | | name |
| 156410271 | CV1962177 | single nucleotide variant | NM_004527.4(MEOX1):c.391G>A (p.Gly131Ser) | Inborn genetic diseases [RCV002589115]|not provided [RCV002587096] | uncertain significance | 17 | 43661144 | 43661144 | Human | 1 | name |
| 156337733 | CV1976977 | single nucleotide variant | NM_004527.4(MEOX1):c.388C>T (p.Pro130Ser) | not provided [RCV002601120] | uncertain significance | 17 | 43661147 | 43661147 | Human | | name |
| 156415223 | CV1990879 | single nucleotide variant | NM_004527.4(MEOX1):c.365G>T (p.Gly122Val) | not provided [RCV002609568] | uncertain significance | 17 | 43661170 | 43661170 | Human | | name |
| 156392258 | CV2005834 | single nucleotide variant | NM_004527.4(MEOX1):c.311G>A (p.Arg104Lys) | not provided [RCV002680882] | uncertain significance | 17 | 43661224 | 43661224 | Human | | name |
| 155904804 | CV2048018 | single nucleotide variant | NM_004527.4(MEOX1):c.518A>G (p.Lys173Arg) | not provided [RCV002771200] | uncertain significance | 17 | 43643612 | 43643612 | Human | | name |
| 156292376 | CV2111470 | single nucleotide variant | NM_004527.4(MEOX1):c.452G>A (p.Arg151Gln) | not provided [RCV002922207] | uncertain significance | 17 | 43661083 | 43661083 | Human | | name |
| 155908249 | CV2387262 | single nucleotide variant | NM_004527.4(MEOX1):c.484A>G (p.Arg162Gly) | Inborn genetic diseases [RCV002749801] | uncertain significance | 17 | 43643646 | 43643646 | Human | 1 | name |
| 329398225 | CV2464878 | single nucleotide variant | NM_004527.4(MEOX1):c.480G>C (p.Glu160Asp) | Inborn genetic diseases [RCV003220374] | uncertain significance | 17 | 43643650 | 43643650 | Human | 1 | name |
| 401719096 | CV2704953 | single nucleotide variant | NM_004527.4(MEOX1):c.593G>A (p.Arg198Gln) | Inborn genetic diseases [RCV003266770] | uncertain significance | 17 | 43643537 | 43643537 | Human | 1 | name |
| 405125955 | CV2939453 | microsatellite | NM_004527.4(MEOX1):c.44_50dup (p.Val18fs) | not provided [RCV003671955] | pathogenic | 17 | 43661484 | 43661485 | Human | | name |
| 405179827 | CV3027730 | single nucleotide variant | NM_004527.4(MEOX1):c.535A>G (p.Thr179Ala) | not provided [RCV003705421] | uncertain significance | 17 | 43643595 | 43643595 | Human | | name |
| 405693671 | CV3281993 | single nucleotide variant | NM_004527.4(MEOX1):c.331G>A (p.Gly111Arg) | Inborn genetic diseases [RCV004424145] | uncertain significance | 17 | 43661204 | 43661204 | Human | 1 | name |
| 405693676 | CV3281994 | single nucleotide variant | NM_004527.4(MEOX1):c.349G>C (p.Gly117Arg) | Inborn genetic diseases [RCV004424146] | uncertain significance | 17 | 43661186 | 43661186 | Human | 1 | name |
| 405693692 | CV3281996 | single nucleotide variant | NM_004527.4(MEOX1):c.643G>A (p.Val215Ile) | Inborn genetic diseases [RCV004424148] | uncertain significance | 17 | 43642032 | 43642032 | Human | 1 | name |
| 405693696 | CV3281997 | single nucleotide variant | NM_004527.4(MEOX1):c.727G>A (p.Glu243Lys) | Inborn genetic diseases [RCV004424149] | uncertain significance | 17 | 43641948 | 43641948 | Human | 1 | name |
| 407518115 | CV3449887 | single nucleotide variant | NM_004527.4(MEOX1):c.683G>A (p.Arg228His) | Inborn genetic diseases [RCV004628758] | uncertain significance | 17 | 43641992 | 43641992 | Human | 1 | name |
| 408393921 | CV3521630 | single nucleotide variant | NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys) | Klippel-Feil syndrome 2, autosomal recessive [RCV004764428] | likely pathogenic | 17 | 43643616 | 43643616 | Human | 1 | name |
| 597699688 | CV3556668 | single nucleotide variant | NM_004527.4(MEOX1):c.451C>T (p.Arg151Trp) | Inborn genetic diseases [RCV004956423] | uncertain significance | 17 | 43661084 | 43661084 | Human | 1 | name |
| 597681937 | CV3556669 | single nucleotide variant | NM_004527.4(MEOX1):c.710C>T (p.Pro237Leu) | Inborn genetic diseases [RCV004952048] | uncertain significance | 17 | 43641965 | 43641965 | Human | 1 | name |
| 598241624 | CV3985839 | single nucleotide variant | NM_004527.4(MEOX1):c.583T>C (p.Tyr195His) | Inborn genetic diseases [RCV005364847] | uncertain significance | 17 | 43643547 | 43643547 | Human | 1 | name |
| 598225765 | CV3985840 | single nucleotide variant | NM_004527.4(MEOX1):c.308G>T (p.Arg103Leu) | Inborn genetic diseases [RCV005380461] | uncertain significance | 17 | 43661227 | 43661227 | Human | 1 | name |
| 8570475 | CV48107 | single nucleotide variant | NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter) | Klippel-Feil syndrome 2, autosomal recessive [RCV000032704] | pathogenic | 17 | 43642011 | 43642011 | Human | 1 | name |
| 13515833 | CV489979 | single nucleotide variant | NM_004527.4(MEOX1):c.721G>C (p.Asp241His) | Inborn genetic diseases [RCV004024741]|not provided [RCV000594781] | uncertain significance | 17 | 43641954 | 43641954 | Human | 1 | name |
| 15186854 | CV727196 | single nucleotide variant | NM_004527.4(MEOX1):c.713A>G (p.Asn238Ser) | MEOX1-related disorder [RCV003910496]|not provided [RCV000887090] | likely benign | 17 | 43641962 | 43641962 | Human | 1 | name , trait , alternate_id |
| 15188521 | CV740795 | single nucleotide variant | NM_004527.4(MEOX1):c.578A>G (p.His193Arg) | not provided [RCV000909391] | likely benign | 17 | 43643552 | 43643552 | Human | | name |
| 15196426 | CV755881 | single nucleotide variant | NM_004527.4(MEOX1):c.700C>A (p.Pro234Thr) | MEOX1-related disorder [RCV003923166]|not provided [RCV000911693] | likely benign | 17 | 43641975 | 43641975 | Human | 1 | name , trait , alternate_id |