| 10053431 | CV196256 | single nucleotide variant | NM_004560.4(ROR2):c.*16G>A | Autosomal recessive Robinow syndrome [RCV000357547]|Brachydactyly type B1 [RCV000305022]|not provided [RCV001689719]|not specified [RCV000180605] | benign | 9 | 91723646 | 91723646 | Human | 2 | name |
| 11604471 | CV313571 | single nucleotide variant | NM_004560.4(ROR2):c.-36A>G | Autosomal recessive Robinow syndrome [RCV000309212]|Brachydactyly type B1 [RCV000359270] | likely benign|uncertain significance | 9 | 91949999 | 91949999 | Human | 2 | name |
| 11599321 | CV313573 | single nucleotide variant | NM_004560.4(ROR2):c.-60G>T | Autosomal recessive Robinow syndrome [RCV000324615]|Brachydactyly type B1 [RCV000264551] | benign|likely benign | 9 | 91950023 | 91950023 | Human | 2 | name |
| 11598935 | CV319357 | single nucleotide variant | NM_004560.4(ROR2):c.-91G>A | Autosomal recessive Robinow syndrome [RCV000261212]|Brachydactyly type B1 [RCV000379180]|not provided [RCV001558892] | benign|likely benign | 9 | 91950054 | 91950054 | Human | 2 | name |
| 28886411 | CV902474 | single nucleotide variant | NM_004560.4(ROR2):c.*46C>T | Autosomal recessive Robinow syndrome [RCV001169058]|Brachydactyly type B1 [RCV001169057] | uncertain significance | 9 | 91723616 | 91723616 | Human | 2 | name |
| 28886419 | CV902475 | single nucleotide variant | NM_004560.4(ROR2):c.*38G>A | Autosomal recessive Robinow syndrome [RCV001169060]|Brachydactyly type B1 [RCV001169059] | uncertain significance | 9 | 91723624 | 91723624 | Human | 2 | name |
| 28879206 | CV902501 | single nucleotide variant | NM_004560.4(ROR2):c.-66G>T | Autosomal recessive Robinow syndrome [RCV001166971]|Brachydactyly type B1 [RCV001166972] | uncertain significance | 9 | 91950029 | 91950029 | Human | 2 | name |
| 28879213 | CV902502 | single nucleotide variant | NM_004560.4(ROR2):c.-90A>G | Autosomal recessive Robinow syndrome [RCV001166973]|Brachydactyly type B1 [RCV001168685] | uncertain significance | 9 | 91950053 | 91950053 | Human | 2 | name |
| 127258707 | CV1098355 | single nucleotide variant | NM_004560.4(ROR2):c.97+7T>C | Brachydactyly type B1 [RCV002501512]|not provided [RCV001427417] | likely benign | 9 | 91949860 | 91949860 | Human | 1 | name |
| 11601368 | CV308858 | single nucleotide variant | NM_004560.4(ROR2):c.*927C>T | Autosomal recessive Robinow syndrome [RCV000281887]|Brachydactyly type B1 [RCV000376446] | benign|likely benign | 9 | 91722735 | 91722735 | Human | 2 | name |
| 11606870 | CV308859 | single nucleotide variant | NM_004560.4(ROR2):c.*886G>T | Autosomal recessive Robinow syndrome [RCV000336945]|Brachydactyly type B1 [RCV000393410] | benign|likely benign | 9 | 91722776 | 91722776 | Human | 2 | name |
| 11601321 | CV308866 | single nucleotide variant | NM_004560.4(ROR2):c.*487C>G | Autosomal recessive Robinow syndrome [RCV000317349]|Brachydactyly type B1 [RCV000281231] | uncertain significance | 9 | 91723175 | 91723175 | Human | 2 | name |
| 11608118 | CV308867 | single nucleotide variant | NM_004560.4(ROR2):c.*229C>T | Autosomal recessive Robinow syndrome [RCV000351316]|Brachydactyly type B1 [RCV000397429]|not provided [RCV001591042] | benign|likely benign | 9 | 91723433 | 91723433 | Human | 2 | name |
| 11609022 | CV308871 | single nucleotide variant | NM_004560.4(ROR2):c.*135G>T | Autosomal recessive Robinow syndrome [RCV000363114]|Brachydactyly type B1 [RCV000401563]|Brachydactyly type B1 [RCV002480256] | uncertain significance | 9 | 91723527 | 91723527 | Human | 2 | name |
| 11603009 | CV308898 | single nucleotide variant | NM_004560.4(ROR2):c.-135G>C | Autosomal recessive Robinow syndrome [RCV000385667]|Brachydactyly type B1 [RCV000295759] | uncertain significance | 9 | 91950098 | 91950098 | Human | 2 | name |
| 11600989 | CV313508 | single nucleotide variant | NM_004560.4(ROR2):c.*766T>C | Autosomal dominant Robinow syndrome 1 [RCV000352288]|Brachydactyly [RCV000278490] | likely benign | 9 | 91722896 | 91722896 | Human | 3 | name |
| 11604691 | CV313523 | single nucleotide variant | NM_004560.4(ROR2):c.*736A>G | Autosomal recessive Robinow syndrome [RCV000312100]|Brachydactyly type B1 [RCV000399174]|not provided [RCV002285323] | benign|likely benign | 9 | 91722926 | 91722926 | Human | 2 | name |
| 11609311 | CV313540 | single nucleotide variant | NM_004560.4(ROR2):c.*712C>T | Autosomal recessive Robinow syndrome [RCV000366805]|Brachydactyly type B1 [RCV000400639]|not provided [RCV001692080] | benign | 9 | 91722950 | 91722950 | Human | 2 | name |
| 11604384 | CV313545 | single nucleotide variant | NM_004560.4(ROR2):c.*682C>G | Autosomal recessive Robinow syndrome [RCV000363658]|Brachydactyly type B1 [RCV000309031] | uncertain significance | 9 | 91722980 | 91722980 | Human | 2 | name |
| 11599883 | CV313549 | single nucleotide variant | NM_004560.4(ROR2):c.*558C>T | Autosomal recessive Robinow syndrome [RCV000269046]|Brachydactyly type B1 [RCV000324079] | likely benign|uncertain significance | 9 | 91723104 | 91723104 | Human | 2 | name |
| 11599490 | CV313550 | single nucleotide variant | NM_004560.4(ROR2):c.*521G>A | Autosomal recessive Robinow syndrome [RCV000265904]|Brachydactyly type B1 [RCV000360137] | benign|likely benign | 9 | 91723141 | 91723141 | Human | 2 | name |
| 11602688 | CV313553 | single nucleotide variant | NM_004560.4(ROR2):c.*180C>A | Autosomal recessive Robinow syndrome [RCV000293163]|Brachydactyly type B1 [RCV000347975] | uncertain significance | 9 | 91723482 | 91723482 | Human | 2 | name |
| 11603080 | CV319314 | single nucleotide variant | NM_004560.4(ROR2):c.*245A>G | Autosomal recessive Robinow syndrome [RCV000296399]|Brachydactyly type B1 [RCV000372063]|not provided [RCV002285324] | benign|likely benign | 9 | 91723417 | 91723417 | Human | 2 | name |
| 11601258 | CV319358 | single nucleotide variant | NM_004560.4(ROR2):c.-121A>C | Autosomal recessive Robinow syndrome [RCV000280726]|Brachydactyly type B1 [RCV000349772] | likely benign|uncertain significance | 9 | 91950084 | 91950084 | Human | 2 | name |
| 11608085 | CV319359 | single nucleotide variant | NM_004560.4(ROR2):c.-154G>C | Autosomal recessive Robinow syndrome [RCV000398130]|Brachydactyly type B1 [RCV000350680] | uncertain significance | 9 | 91950117 | 91950117 | Human | 2 | name |
| 11605531 | CV319924 | single nucleotide variant | NM_004560.4(ROR2):c.*520C>T | Autosomal recessive Robinow syndrome [RCV000320989]|Brachydactyly type B1 [RCV000375734] | benign|uncertain significance | 9 | 91723142 | 91723142 | Human | 2 | name |
| 11605129 | CV319958 | single nucleotide variant | NM_004560.4(ROR2):c.-102G>T | Autosomal recessive Robinow syndrome [RCV000316428]|Brachydactyly type B1 [RCV000375208]|Brachydactyly type B1 [RCV002480257] | uncertain significance | 9 | 91950065 | 91950065 | Human | 2 | name |
| 408366285 | CV3500159 | single nucleotide variant | NM_004560.4(ROR2):c.*236G>A | not provided [RCV004722202] | likely benign | 9 | 91723426 | 91723426 | Human | | name |
| 28886199 | CV902466 | single nucleotide variant | NM_004560.4(ROR2):c.*571G>C | Autosomal recessive Robinow syndrome [RCV001168994]|Brachydactyly type B1 [RCV001168995] | uncertain significance | 9 | 91723091 | 91723091 | Human | 2 | name |
| 28886206 | CV902467 | single nucleotide variant | NM_004560.4(ROR2):c.*553G>A | Autosomal recessive Robinow syndrome [RCV001168997]|Brachydactyly type B1 [RCV001168996] | uncertain significance | 9 | 91723109 | 91723109 | Human | 2 | name |
| 38598720 | CV902468 | single nucleotide variant | NM_004560.4(ROR2):c.*433C>T | Autosomal recessive Robinow syndrome [RCV001254020]|Brachydactyly type B1 [RCV001254021] | uncertain significance | 9 | 91723229 | 91723229 | Human | 2 | name |
| 28877866 | CV902469 | single nucleotide variant | NM_004560.4(ROR2):c.*398G>C | Autosomal recessive Robinow syndrome [RCV001166571]|Brachydactyly type B1 [RCV001166572] | uncertain significance | 9 | 91723264 | 91723264 | Human | 2 | name |
| 28877872 | CV902470 | single nucleotide variant | NM_004560.4(ROR2):c.*369G>C | Autosomal recessive Robinow syndrome [RCV001166574]|Brachydactyly type B1 [RCV001166573] | uncertain significance | 9 | 91723293 | 91723293 | Human | 2 | name |
| 28883822 | CV902471 | single nucleotide variant | NM_004560.4(ROR2):c.*125C>A | Autosomal recessive Robinow syndrome [RCV001168321]|Brachydactyly type B1 [RCV001168320] | uncertain significance | 9 | 91723537 | 91723537 | Human | 2 | name |
| 28883827 | CV902472 | single nucleotide variant | NM_004560.4(ROR2):c.*107G>C | Autosomal recessive Robinow syndrome [RCV001168323]|Brachydactyly type B1 [RCV001168322] | uncertain significance | 9 | 91723555 | 91723555 | Human | 2 | name |
| 28886405 | CV902473 | single nucleotide variant | NM_004560.4(ROR2):c.*106C>T | Autosomal recessive Robinow syndrome [RCV001169055]|Brachydactyly type B1 [RCV001169056] | benign|uncertain significance | 9 | 91723556 | 91723556 | Human | 2 | name |
| 28885144 | CV902503 | single nucleotide variant | NM_004560.4(ROR2):c.-118C>T | Autosomal recessive Robinow syndrome [RCV001168686]|Brachydactyly type B1 [RCV001168687] | uncertain significance | 9 | 91950081 | 91950081 | Human | 2 | name |
| 127244688 | CV1055878 | single nucleotide variant | NM_004560.4(ROR2):c.175+1G>A | Brachydactyly type B1 [RCV002499774]|not provided [RCV001377292] | likely pathogenic | 9 | 91775740 | 91775740 | Human | 1 | name |
| 150430117 | CV1231992 | single nucleotide variant | NM_004560.4(ROR2):c.98-67A>G | not provided [RCV001641254] | benign | 9 | 91775885 | 91775885 | Human | | name |
| 150460338 | CV1264159 | single nucleotide variant | NM_004560.4(ROR2):c.97+93C>T | not provided [RCV001682075] | benign | 9 | 91949774 | 91949774 | Human | | name |
| 151713951 | CV1473298 | single nucleotide variant | NM_004560.4(ROR2):c.175+3G>T | Brachydactyly type B1 [RCV002482612]|Inborn genetic diseases [RCV002552239]|not provided [RCV001889950] | uncertain significance | 9 | 91775738 | 91775738 | Human | 2 | name |
| 152043325 | CV1637670 | single nucleotide variant | NM_004560.4(ROR2):c.97+12C>T | not provided [RCV002144789] | likely benign | 9 | 91949855 | 91949855 | Human | | name |
| 9683730 | CV168811 | single nucleotide variant | NM_004560.4(ROR2):c.98-15G>C | Autosomal recessive Robinow syndrome [RCV000312010]|Brachydactyly type B1 [RCV000352624]|not provided [RCV001709498]|not specified [RCV000147394] | benign | 9 | 91775833 | 91775833 | Human | 2 | name |
| 402515316 | CV3178880 | single nucleotide variant | NM_004560.4(ROR2):c.175+5G>A | not provided [RCV003879313] | uncertain significance | 9 | 91775736 | 91775736 | Human | | name |
| 11602002 | CV319299 | single nucleotide variant | NM_004560.4(ROR2):c.*1016T>G | Autosomal recessive Robinow syndrome [RCV000340496]|Brachydactyly type B1 [RCV000286975]|not provided [RCV004712773] | benign | 9 | 91722646 | 91722646 | Human | 2 | name |
| 597880813 | CV3744863 | single nucleotide variant | NM_004560.4(ROR2):c.622+7G>A | not provided [RCV005069888] | likely benign | 9 | 91737384 | 91737384 | Human | | name |
| 597935863 | CV3759486 | single nucleotide variant | NM_004560.4(ROR2):c.463+8G>A | not provided [RCV005076606] | likely benign | 9 | 91757264 | 91757264 | Human | | name |
| 13834710 | CV585959 | single nucleotide variant | NM_004560.4(ROR2):c.938-6G>C | not provided [RCV000730296] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91731161 | 91731161 | Human | | name |
| 150331915 | CV1172016 | single nucleotide variant | NM_004560.4(ROR2):c.494+24C>T | not provided [RCV001538830] | likely benign | 9 | 91756047 | 91756047 | Human | | name |
| 150478660 | CV1207702 | single nucleotide variant | NM_004560.4(ROR2):c.98-204G>A | not provided [RCV001589978] | likely benign | 9 | 91776022 | 91776022 | Human | | name |
| 150492681 | CV1225523 | single nucleotide variant | NM_004560.4(ROR2):c.98-100G>A | not provided [RCV001619039] | benign | 9 | 91775918 | 91775918 | Human | | name |
| 150513979 | CV1227995 | single nucleotide variant | NM_004560.4(ROR2):c.622+55C>T | not provided [RCV001638273] | benign | 9 | 91737336 | 91737336 | Human | | name |
| 150454231 | CV1232234 | single nucleotide variant | NM_004560.4(ROR2):c.98-288C>T | not provided [RCV001648247] | benign | 9 | 91776106 | 91776106 | Human | | name |
| 150440207 | CV1247826 | single nucleotide variant | NM_004560.4(ROR2):c.97+218A>G | not provided [RCV001666193] | benign | 9 | 91949649 | 91949649 | Human | | name |
| 150482880 | CV1261691 | single nucleotide variant | NM_004560.4(ROR2):c.97+200C>A | not provided [RCV001686295] | benign | 9 | 91949667 | 91949667 | Human | | name |
| 150441637 | CV1265589 | single nucleotide variant | NM_004560.4(ROR2):c.623-22G>A | not provided [RCV001679293] | benign | 9 | 91733458 | 91733458 | Human | | name |
| 151356408 | CV1329172 | single nucleotide variant | NM_004560.4(ROR2):c.463+10A>G | not provided [RCV005095282]|not specified [RCV001822761] | likely benign|uncertain significance | 9 | 91757262 | 91757262 | Human | | name |
| 152111278 | CV1537135 | single nucleotide variant | NM_004560.4(ROR2):c.494+17C>T | Brachydactyly type B1 [RCV002494127]|not provided [RCV002215525] | likely benign | 9 | 91756054 | 91756054 | Human | 1 | name |
| 152123270 | CV1546144 | single nucleotide variant | NM_004560.4(ROR2):c.937+16C>T | Brachydactyly type B1 [RCV002486901]|not provided [RCV002118118] | benign | 9 | 91733106 | 91733106 | Human | 1 | name |
| 152081542 | CV1558553 | single nucleotide variant | NM_004560.4(ROR2):c.937+11G>A | not provided [RCV002149377] | likely benign | 9 | 91733111 | 91733111 | Human | | name |
| 152031488 | CV1561213 | single nucleotide variant | NM_004560.4(ROR2):c.937+19G>A | not provided [RCV002106168] | likely benign | 9 | 91733103 | 91733103 | Human | | name |
| 152132161 | CV1633332 | single nucleotide variant | NM_004560.4(ROR2):c.463+11C>A | not provided [RCV002137064] | likely benign | 9 | 91757261 | 91757261 | Human | | name |
| 152081815 | CV1641426 | single nucleotide variant | NM_004560.4(ROR2):c.175+17A>G | Brachydactyly type B1 [RCV002498205]|not provided [RCV002211519] | benign|likely benign | 9 | 91775724 | 91775724 | Human | 1 | name |
| 152977784 | CV1671143 | single nucleotide variant | NM_004560.4(ROR2):c.1184-1G>T | Autosomal recessive Robinow syndrome [RCV002226817] | pathogenic | 9 | 91726744 | 91726744 | Human | 1 | name |
| 10048995 | CV195336 | single nucleotide variant | NM_004560.4(ROR2):c.937+10C>T | Autosomal recessive Robinow syndrome [RCV000293352]|Brachydactyly type B1 [RCV000385746]|Brachydactyly type B1 [RCV002500510]|not provided [RCV000971909]|not specified [RCV000179444] | benign|likely benign|conflicting interpretations of pathogenicity | 9 | 91733112 | 91733112 | Human | 2 | name |
| 156395305 | CV1958871 | single nucleotide variant | NM_004560.4(ROR2):c.623-13G>A | not provided [RCV002584307] | likely benign | 9 | 91733449 | 91733449 | Human | | name |
| 156188605 | CV1961477 | single nucleotide variant | NM_004560.4(ROR2):c.937+18C>T | not provided [RCV002574339] | likely benign | 9 | 91733104 | 91733104 | Human | | name |
| 156340216 | CV1961634 | single nucleotide variant | NM_004560.4(ROR2):c.176-15C>T | not provided [RCV002580465] | likely benign | 9 | 91757574 | 91757574 | Human | | name |
| 156230946 | CV1965646 | single nucleotide variant | NM_004560.4(ROR2):c.938-17G>A | not provided [RCV002596806] | likely benign | 9 | 91731172 | 91731172 | Human | | name |
| 156348800 | CV1968150 | single nucleotide variant | NM_004560.4(ROR2):c.176-10T>G | not provided [RCV002601671] | likely benign | 9 | 91757569 | 91757569 | Human | | name |
| 156177697 | CV1978643 | single nucleotide variant | NM_004560.4(ROR2):c.938-18C>T | not provided [RCV002594967] | likely benign | 9 | 91731173 | 91731173 | Human | | name |
| 156012305 | CV1988250 | single nucleotide variant | NM_004560.4(ROR2):c.175+17A>C | not provided [RCV002618967] | likely benign | 9 | 91775724 | 91775724 | Human | | name |
| 155950521 | CV2046682 | single nucleotide variant | NM_004560.4(ROR2):c.176-14G>A | not provided [RCV002775751] | likely benign | 9 | 91757573 | 91757573 | Human | | name |
| 156236087 | CV2145346 | single nucleotide variant | NM_004560.4(ROR2):c.1183+9T>C | not provided [RCV003007926] | likely benign | 9 | 91730901 | 91730901 | Human | | name |
| 11545089 | CV253584 | single nucleotide variant | NM_004560.4(ROR2):c.938-33C>T | not provided [RCV001618433]|not specified [RCV000244669] | benign | 9 | 91731188 | 91731188 | Human | | name |
| 11549088 | CV253585 | single nucleotide variant | NM_004560.4(ROR2):c.494+25G>A | Autosomal recessive Robinow syndrome [RCV001795453]|Brachydactyly type B1 [RCV001795452]|not provided [RCV001640532]|not specified [RCV000249961] | benign | 9 | 91756046 | 91756046 | Human | 2 | name |
| 405160735 | CV3159972 | single nucleotide variant | NM_004560.4(ROR2):c.463+17A>G | not provided [RCV003857043] | likely benign | 9 | 91757255 | 91757255 | Human | | name |
| 404998547 | CV3173004 | single nucleotide variant | NM_004560.4(ROR2):c.623-20G>A | not provided [RCV003882286] | likely benign | 9 | 91733456 | 91733456 | Human | | name |
| 11604355 | CV319315 | microsatellite | NM_004560.4(ROR2):c.*170AG[1] | Autosomal dominant Robinow syndrome 1 [RCV000397410]|Brachydactyly [RCV000308467]|not provided [RCV001692081] | benign | 9 | 91723487 | 91723490 | Human | | name |
| 597716346 | CV3719695 | single nucleotide variant | NM_004560.4(ROR2):c.1386+6C>T | Brachydactyly type B1 [RCV005049218] | uncertain significance | 9 | 91726535 | 91726535 | Human | 1 | name |
| 28884673 | CV903443 | single nucleotide variant | NM_004560.4(ROR2):c.938-15G>A | Autosomal recessive Robinow syndrome [RCV001168555]|Brachydactyly type B1 [RCV001168556] | uncertain significance | 9 | 91731170 | 91731170 | Human | 2 | name |
| 126909901 | CV971530 | single nucleotide variant | NM_004560.4(ROR2):c.623-11G>A | Autosomal recessive Robinow syndrome [RCV001353129]|not provided [RCV001732097] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91733447 | 91733447 | Human | 1 | name |
| 150428917 | CV1187520 | duplication | NM_004560.4(ROR2):c.623-286dup | not provided [RCV001562899] | likely benign | 9 | 91733718 | 91733719 | Human | | name |
| 150410195 | CV1190998 | single nucleotide variant | NM_004560.4(ROR2):c.464-221A>G | not provided [RCV001565923] | likely benign | 9 | 91756322 | 91756322 | Human | | name |
| 150458069 | CV1202707 | single nucleotide variant | NM_004560.4(ROR2):c.464-142C>T | not provided [RCV001586360] | likely benign | 9 | 91756243 | 91756243 | Human | | name |
| 150458726 | CV1202807 | single nucleotide variant | NM_004560.4(ROR2):c.1183+53T>C | not provided [RCV001586460] | likely benign | 9 | 91730857 | 91730857 | Human | | name |
| 150441425 | CV1204548 | single nucleotide variant | NM_004560.4(ROR2):c.1386+25C>T | not provided [RCV001583655] | likely benign | 9 | 91726516 | 91726516 | Human | | name |
| 150470852 | CV1209413 | single nucleotide variant | NM_004560.4(ROR2):c.1386+40A>G | not provided [RCV001588524] | likely benign | 9 | 91726501 | 91726501 | Human | | name |
| 150510442 | CV1211684 | single nucleotide variant | NM_004560.4(ROR2):c.937+119C>T | not provided [RCV001597578] | benign | 9 | 91733003 | 91733003 | Human | | name |
| 150512320 | CV1212966 | single nucleotide variant | NM_004560.4(ROR2):c.495-164A>G | not provided [RCV001598198] | benign | 9 | 91737682 | 91737682 | Human | | name |
| 150468355 | CV1218902 | single nucleotide variant | NM_004560.4(ROR2):c.176-319C>T | not provided [RCV001614654] | benign | 9 | 91757878 | 91757878 | Human | | name |
| 150493719 | CV1224460 | single nucleotide variant | NM_004560.4(ROR2):c.495-165C>T | not provided [RCV001619236] | benign | 9 | 91737683 | 91737683 | Human | | name |
| 150491867 | CV1225374 | single nucleotide variant | NM_004560.4(ROR2):c.622+154G>T | not provided [RCV001618889] | benign | 9 | 91737237 | 91737237 | Human | | name |
| 150514857 | CV1228653 | single nucleotide variant | NM_004560.4(ROR2):c.463+193G>A | not provided [RCV001638641] | benign | 9 | 91757079 | 91757079 | Human | | name |
| 150501698 | CV1238469 | single nucleotide variant | NM_004560.4(ROR2):c.463+206G>C | not provided [RCV001656899] | benign | 9 | 91757066 | 91757066 | Human | | name |
| 150502143 | CV1241153 | single nucleotide variant | NM_004560.4(ROR2):c.623-122C>T | not provided [RCV001657049] | benign | 9 | 91733558 | 91733558 | Human | | name |
| 150511257 | CV1242657 | deletion | NM_004560.4(ROR2):c.623-297del | not provided [RCV001661009] | benign | 9 | 91733733 | 91733733 | Human | | name |
| 150482790 | CV1245003 | single nucleotide variant | NM_004560.4(ROR2):c.176-115G>A | not provided [RCV001653180] | benign | 9 | 91757674 | 91757674 | Human | | name |
| 150480612 | CV1258758 | single nucleotide variant | NM_004560.4(ROR2):c.1387-70G>A | not provided [RCV001685888] | benign | 9 | 91725177 | 91725177 | Human | | name |
| 150459411 | CV1268339 | single nucleotide variant | NM_004560.4(ROR2):c.937+118C>T | not provided [RCV001693336] | benign | 9 | 91733004 | 91733004 | Human | | name |
| 151235930 | CV1319358 | duplication | NM_004560.4(ROR2):c.937+143dup | not provided [RCV001797303] | likely benign | 9 | 91732978 | 91732979 | Human | | name |
| 151864244 | CV1336803 | duplication | NM_004560.4(ROR2):c.1386+85dup | not provided [RCV002034843] | likely benign | 9 | 91726455 | 91726456 | Human | | name |
| 156443832 | CV1941207 | single nucleotide variant | NM_004560.4(ROR2):c.1386+16A>G | not provided [RCV003114741] | likely benign | 9 | 91726525 | 91726525 | Human | | name |
| 156176011 | CV1953132 | single nucleotide variant | NM_004560.4(ROR2):c.1184-20G>A | not provided [RCV002573962] | likely benign | 9 | 91726763 | 91726763 | Human | | name |
| 156120735 | CV2039849 | single nucleotide variant | NM_004560.4(ROR2):c.1183+20T>G | not provided [RCV002785780] | likely benign | 9 | 91730890 | 91730890 | Human | | name |
| 156315909 | CV2130346 | single nucleotide variant | NM_004560.4(ROR2):c.1386+11C>A | not provided [RCV002962900] | likely benign | 9 | 91726530 | 91726530 | Human | | name |
| 156339604 | CV2174736 | single nucleotide variant | NM_004560.4(ROR2):c.1183+14C>G | not provided [RCV003047667] | likely benign | 9 | 91730896 | 91730896 | Human | | name |
| 11545896 | CV253583 | single nucleotide variant | NM_004560.4(ROR2):c.1184-39A>T | not specified [RCV000245752] | likely benign | 9 | 91726782 | 91726782 | Human | | name |
| 402523997 | CV3011531 | single nucleotide variant | NM_004560.4(ROR2):c.1184-18A>G | not provided [RCV003716645] | likely benign | 9 | 91726761 | 91726761 | Human | | name |
| 11599139 | CV308888 | single nucleotide variant | NM_004560.4(ROR2):c.1184-10T>C | Autosomal recessive Robinow syndrome [RCV000359431]|Brachydactyly type B1 [RCV000263077] | likely benign|uncertain significance | 9 | 91726753 | 91726753 | Human | 2 | name |
| 150406601 | CV1194265 | duplication | NM_004560.4(ROR2):c.1387-109dup | not provided [RCV001572063] | likely benign | 9 | 91725210 | 91725211 | Human | | name |
| 150405916 | CV1194266 | single nucleotide variant | NM_004560.4(ROR2):c.1386+255C>T | not provided [RCV001571846] | likely benign | 9 | 91726286 | 91726286 | Human | | name |
| 150498491 | CV1208930 | single nucleotide variant | NM_004560.4(ROR2):c.1183+123C>G | not provided [RCV001594147] | likely benign | 9 | 91730787 | 91730787 | Human | | name |
| 150508035 | CV1227037 | single nucleotide variant | NM_004560.4(ROR2):c.1386+233T>C | not provided [RCV001636110] | benign | 9 | 91726308 | 91726308 | Human | | name |
| 150490444 | CV1267614 | single nucleotide variant | NM_004560.4(ROR2):c.1184-187G>A | not provided [RCV001687638] | benign | 9 | 91726930 | 91726930 | Human | | name |
| 597841506 | CV3752844 | microsatellite | NM_004560.4(ROR2):c.1183+10CT[4] | not provided [RCV005086573] | likely benign | 9 | 91730891 | 91730892 | Human | | name |
| 126909890 | CV971531 | microsatellite | NM_004560.4(ROR2):c.494+4_494+7del | Autosomal recessive Robinow syndrome [RCV001353122] | likely pathogenic | 9 | 91756064 | 91756067 | Human | | name |
| 9683729 | CV168812 | single nucleotide variant | NM_004560.4(ROR2):c.75G>A (p.Leu25=) | Autosomal recessive Robinow syndrome [RCV000147393]|Brachydactyly type B1 [RCV000308365]|not provided [RCV000974248]|not specified [RCV000173351] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91949889 | 91949889 | Human | 2 | name |
| 10049455 | CV190451 | single nucleotide variant | NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) | Autosomal recessive Robinow syndrome [RCV000272869]|Brachydactyly type B1 [RCV000363075]|Brachydactyly type B1 [RCV002485118]|not provided [RCV001309610]|not specified [RCV000173350] | benign|likely benign|uncertain significance | 9 | 91949957 | 91949957 | Human | 2 | name |
| 11643523 | CV270532 | single nucleotide variant | NM_004560.4(ROR2):c.51C>A (p.Ala17=) | not provided [RCV000395548] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91949913 | 91949913 | Human | | name |
| 405246452 | CV3048110 | single nucleotide variant | NM_004560.4(ROR2):c.51C>T (p.Ala17=) | not provided [RCV003720543] | likely benign | 9 | 91949913 | 91949913 | Human | | name |
| 597711411 | CV3719745 | single nucleotide variant | NM_004560.4(ROR2):c.8G>A (p.Arg3Gln) | Brachydactyly type B1 [RCV005048745] | uncertain significance | 9 | 91949956 | 91949956 | Human | 1 | name |
| 597865478 | CV3767406 | single nucleotide variant | NM_004560.4(ROR2):c.8G>T (p.Arg3Leu) | not provided [RCV005106742] | uncertain significance | 9 | 91949956 | 91949956 | Human | | name |
| 126909888 | CV971534 | single nucleotide variant | NM_004560.4(ROR2):c.2T>G (p.Met1Arg) | Autosomal recessive Robinow syndrome [RCV001353121] | pathogenic | 9 | 91949962 | 91949962 | Human | 1 | name |
| 126773330 | CV1008713 | single nucleotide variant | NM_004560.4(ROR2):c.25C>G (p.Arg9Gly) | not provided [RCV001324269] | uncertain significance | 9 | 91949939 | 91949939 | Human | | name |
| 151887359 | CV1471959 | single nucleotide variant | NM_004560.4(ROR2):c.280C>A (p.Arg94=) | not provided [RCV002000866] | likely benign|uncertain significance | 9 | 91757455 | 91757455 | Human | | name |
| 152102939 | CV1579129 | single nucleotide variant | NM_004560.4(ROR2):c.258A>G (p.Ala86=) | not provided [RCV002079225] | likely benign | 9 | 91757477 | 91757477 | Human | | name |
| 152168912 | CV1598308 | single nucleotide variant | NM_004560.4(ROR2):c.159G>A (p.Pro53=) | not provided [RCV002142610] | likely benign | 9 | 91775757 | 91775757 | Human | | name |
| 152091308 | CV1616165 | single nucleotide variant | NM_004560.4(ROR2):c.123C>T (p.Asn41=) | not provided [RCV002114112] | likely benign | 9 | 91775793 | 91775793 | Human | | name |
| 11642180 | CV265910 | single nucleotide variant | NM_004560.4(ROR2):c.174A>G (p.Lys58=) | Brachydactyly type B1 [RCV005049511]|not provided [RCV000370250] | uncertain significance | 9 | 91775742 | 91775742 | Human | 1 | name |
| 405183437 | CV2920239 | single nucleotide variant | NM_004560.4(ROR2):c.162T>A (p.Ile54=) | not provided [RCV003564215] | likely benign | 9 | 91775754 | 91775754 | Human | | name |
| 11601513 | CV308893 | single nucleotide variant | NM_004560.4(ROR2):c.276C>T (p.Asn92=) | Autosomal recessive Robinow syndrome [RCV000282689]|Brachydactyly type B1 [RCV000372574]|not provided [RCV000961953] | benign | 9 | 91757459 | 91757459 | Human | 2 | name |
| 11606938 | CV319956 | single nucleotide variant | NM_004560.4(ROR2):c.153C>T (p.Asp51=) | Autosomal recessive Robinow syndrome [RCV000337763]|Brachydactyly type B1 [RCV000395571]|ROR2-related disorder [RCV004544718]|not provided [RCV000899530] | likely benign|uncertain significance | 9 | 91775763 | 91775763 | Human | 2 | name , trait , alternate_id |
| 597940814 | CV3757286 | single nucleotide variant | NM_004560.4(ROR2):c.219T>C (p.Ile73=) | not provided [RCV005077472] | likely benign | 9 | 91757516 | 91757516 | Human | | name |
| 597920913 | CV3852081 | single nucleotide variant | NM_004560.4(ROR2):c.291G>A (p.Lys97=) | not provided [RCV005205061] | likely benign | 9 | 91757444 | 91757444 | Human | | name |
| 13523751 | CV493857 | single nucleotide variant | NM_004560.4(ROR2):c.234G>A (p.Thr78=) | not provided [RCV000593398] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91757501 | 91757501 | Human | | name |
| 15155246 | CV712063 | single nucleotide variant | NM_004560.4(ROR2):c.255G>A (p.Val85=) | not provided [RCV000968889] | likely benign | 9 | 91757480 | 91757480 | Human | | name |
| 127232309 | CV1076709 | single nucleotide variant | NM_004560.4(ROR2):c.381G>A (p.Thr127=) | not provided [RCV001395634] | likely benign | 9 | 91757354 | 91757354 | Human | | name |
| 127276017 | CV1098354 | single nucleotide variant | NM_004560.4(ROR2):c.921C>T (p.Ala307=) | not provided [RCV001432600] | likely benign | 9 | 91733138 | 91733138 | Human | | name |
| 151790130 | CV1397209 | single nucleotide variant | NM_004560.4(ROR2):c.768C>T (p.Cys256=) | Brachydactyly type B1 [RCV002484529]|not provided [RCV001951967] | likely benign|uncertain significance | 9 | 91733291 | 91733291 | Human | 1 | name |
| 151848216 | CV1441780 | single nucleotide variant | NM_004560.4(ROR2):c.660G>A (p.Ser220=) | not provided [RCV001995616] | likely benign|uncertain significance | 9 | 91733399 | 91733399 | Human | | name |
| 151778875 | CV1472286 | single nucleotide variant | NM_004560.4(ROR2):c.888C>T (p.Asp296=) | Brachydactyly type B1 [RCV002498048]|ROR2-related disorder [RCV004543684]|not provided [RCV002026068] | likely benign | 9 | 91733171 | 91733171 | Human | 2 | name , trait , alternate_id |
| 151892298 | CV1480824 | single nucleotide variant | NM_004560.4(ROR2):c.95C>A (p.Ser32Ter) | not provided [RCV001943968] | pathogenic | 9 | 91949869 | 91949869 | Human | | name |
| 152109581 | CV1530109 | single nucleotide variant | NM_004560.4(ROR2):c.501T>C (p.Asp167=) | not provided [RCV002196590] | likely benign | 9 | 91737512 | 91737512 | Human | | name |
| 152082856 | CV1565115 | single nucleotide variant | NM_004560.4(ROR2):c.654C>T (p.His218=) | not provided [RCV002093082] | likely benign | 9 | 91733405 | 91733405 | Human | | name |
| 152076716 | CV1565987 | single nucleotide variant | NM_004560.4(ROR2):c.720C>T (p.Asp240=) | not provided [RCV002075832] | likely benign | 9 | 91733339 | 91733339 | Human | | name |
| 152033740 | CV1573010 | single nucleotide variant | NM_004560.4(ROR2):c.954C>T (p.Asn318=) | Brachydactyly type B1 [RCV002494063]|not provided [RCV002187143] | likely benign | 9 | 91731139 | 91731139 | Human | 1 | name |
| 152147596 | CV1618725 | single nucleotide variant | NM_004560.4(ROR2):c.489C>T (p.Asn163=) | not provided [RCV002121290] | likely benign | 9 | 91756076 | 91756076 | Human | | name |
| 9683727 | CV168810 | single nucleotide variant | NM_004560.4(ROR2):c.498T>C (p.Asp166=) | Autosomal recessive Robinow syndrome [RCV000270797]|Brachydactyly type B1 [RCV000381562]|not provided [RCV001509912]|not specified [RCV000147391] | benign | 9 | 91737515 | 91737515 | Human | 2 | name |
| 156369229 | CV1905046 | single nucleotide variant | NM_004560.4(ROR2):c.474C>T (p.His158=) | not provided [RCV002582298] | likely benign | 9 | 91756091 | 91756091 | Human | | name |
| 10051533 | CV193554 | single nucleotide variant | NM_004560.4(ROR2):c.372C>T (p.Asp124=) | Autosomal recessive Robinow syndrome [RCV000286337]|Brachydactyly type B1 [RCV000341308]|Brachydactyly type B1 [RCV002485156]|not provided [RCV000969995]|not specified [RCV000246827] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91757363 | 91757363 | Human | 2 | name |
| 156437036 | CV1936864 | single nucleotide variant | NM_004560.4(ROR2):c.729C>G (p.Ser243=) | not provided [RCV003106564] | likely benign | 9 | 91733330 | 91733330 | Human | | name |
| 156446040 | CV1951067 | single nucleotide variant | NM_004560.4(ROR2):c.750G>A (p.Glu250=) | not provided [RCV003117003] | likely benign | 9 | 91733309 | 91733309 | Human | | name |
| 156117766 | CV1952478 | single nucleotide variant | NM_004560.4(ROR2):c.405C>T (p.Cys135=) | not provided [RCV002571741] | likely benign | 9 | 91757330 | 91757330 | Human | | name |
| 156128466 | CV1966099 | single nucleotide variant | NM_004560.4(ROR2):c.444C>T (p.Gly148=) | not provided [RCV002593403] | likely benign | 9 | 91757291 | 91757291 | Human | | name |
| 156285156 | CV2134086 | single nucleotide variant | NM_004560.4(ROR2):c.426G>A (p.Lys142=) | not provided [RCV003009741] | likely benign | 9 | 91757309 | 91757309 | Human | | name |
| 401745404 | CV2681258 | single nucleotide variant | NM_004560.4(ROR2):c.47C>G (p.Pro16Arg) | Brachydactyly type B1 [RCV005047495]|Inborn genetic diseases [RCV003252364] | uncertain significance | 9 | 91949917 | 91949917 | Human | 2 | name |
| 11638080 | CV271191 | single nucleotide variant | NM_004560.4(ROR2):c.822C>T (p.Asn274=) | not provided [RCV000297018] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91733237 | 91733237 | Human | | name |
| 11580348 | CV274924 | single nucleotide variant | NM_004560.4(ROR2):c.678C>T (p.Phe226=) | Autosomal recessive Robinow syndrome [RCV000368671]|Brachydactyly type B1 [RCV000330462]|not provided [RCV000331211] | likely benign|uncertain significance | 9 | 91733381 | 91733381 | Human | 2 | name |
| 402471692 | CV2912002 | single nucleotide variant | NM_004560.4(ROR2):c.645G>A (p.Thr215=) | not provided [RCV003570633] | likely benign | 9 | 91733414 | 91733414 | Human | | name |
| 405117314 | CV2949579 | single nucleotide variant | NM_004560.4(ROR2):c.712C>T (p.Leu238=) | not provided [RCV003667060] | likely benign | 9 | 91733347 | 91733347 | Human | | name |
| 402495707 | CV2978536 | single nucleotide variant | NM_004560.4(ROR2):c.906C>T (p.Arg302=) | not provided [RCV003714140] | likely benign | 9 | 91733153 | 91733153 | Human | | name |
| 404978765 | CV3013130 | single nucleotide variant | NM_004560.4(ROR2):c.810C>T (p.Ile270=) | not provided [RCV003690849] | likely benign | 9 | 91733249 | 91733249 | Human | | name |
| 405242044 | CV3078588 | single nucleotide variant | NM_004560.4(ROR2):c.414C>T (p.Thr138=) | not provided [RCV003737489] | likely benign | 9 | 91757321 | 91757321 | Human | | name |
| 11600903 | CV308892 | single nucleotide variant | NM_004560.4(ROR2):c.702C>T (p.Phe234=) | Autosomal recessive Robinow syndrome [RCV000369670]|Brachydactyly type B1 [RCV000277682]|not provided [RCV002058821] | likely benign|uncertain significance | 9 | 91733357 | 91733357 | Human | 2 | name |
| 405122070 | CV3126220 | single nucleotide variant | NM_004560.4(ROR2):c.984A>G (p.Ala328=) | not provided [RCV003814972] | likely benign | 9 | 91731109 | 91731109 | Human | | name |
| 11602118 | CV313566 | single nucleotide variant | NM_004560.4(ROR2):c.864G>A (p.Ala288=) | Autosomal recessive Robinow syndrome [RCV000287985]|Brachydactyly type B1 [RCV000345180]|not provided [RCV000900090] | likely benign|uncertain significance | 9 | 91733195 | 91733195 | Human | 2 | name |
| 405055605 | CV3138580 | single nucleotide variant | NM_004560.4(ROR2):c.672A>G (p.Ser224=) | not provided [RCV003832425] | likely benign | 9 | 91733387 | 91733387 | Human | | name |
| 405166810 | CV3153648 | single nucleotide variant | NM_004560.4(ROR2):c.88C>G (p.Arg30Gly) | not provided [RCV003841193] | uncertain significance | 9 | 91949876 | 91949876 | Human | | name |
| 405093834 | CV3164180 | duplication | NM_004560.4(ROR2):c.139dup (p.Leu47fs) | not provided [RCV003852495] | pathogenic | 9 | 91775776 | 91775777 | Human | | name |
| 402471507 | CV3171579 | single nucleotide variant | NM_004560.4(ROR2):c.82G>A (p.Val28Met) | not provided [RCV003874363] | uncertain significance | 9 | 91949882 | 91949882 | Human | | name |
| 402508343 | CV3181688 | single nucleotide variant | NM_004560.4(ROR2):c.417C>T (p.Asn139=) | not provided [RCV003878522] | likely benign | 9 | 91757318 | 91757318 | Human | | name |
| 11601919 | CV319350 | single nucleotide variant | NM_004560.4(ROR2):c.751C>T (p.Leu251=) | Autosomal recessive Robinow syndrome [RCV000286613]|Brachydactyly type B1 [RCV000403944]|Brachydactyly type B1 [RCV005044602]|ROR2-related disorder [RCV004530493]|not provided [RCV000933747] | benign|likely benign | 9 | 91733308 | 91733308 | Human | 2 | name , trait , alternate_id |
| 11607098 | CV319351 | single nucleotide variant | NM_004560.4(ROR2):c.744G>A (p.Pro248=) | Autosomal recessive Robinow syndrome [RCV000397233]|Brachydactyly type B1 [RCV000339264]|ROR2-related disorder [RCV004530494]|not provided [RCV002058820] | benign|likely benign | 9 | 91733315 | 91733315 | Human | 2 | name , trait , alternate_id |
| 11603280 | CV319353 | single nucleotide variant | NM_004560.4(ROR2):c.717C>T (p.Cys239=) | Autosomal recessive Robinow syndrome [RCV000401720]|Brachydactyly type B1 [RCV000298671]|Brachydactyly type B1 [RCV002504195]|not provided [RCV000881890] | benign|likely benign | 9 | 91733342 | 91733342 | Human | 2 | name |
| 11605791 | CV319939 | single nucleotide variant | NM_004560.4(ROR2):c.471G>A (p.Thr157=) | Autosomal recessive Robinow syndrome [RCV000380521]|Brachydactyly type B1 [RCV000323552]|Brachydactyly type B1 [RCV002504196]|not provided [RCV000906005] | benign|likely benign | 9 | 91756094 | 91756094 | Human | 2 | name |
| 405291729 | CV3206066 | single nucleotide variant | NM_004560.4(ROR2):c.762C>T (p.Asp254=) | ROR2-related disorder [RCV004545691] | likely benign | 9 | 91733297 | 91733297 | Human | | name , trait , alternate_id |
| 597711375 | CV3719741 | single nucleotide variant | NM_004560.4(ROR2):c.92C>T (p.Thr31Ile) | Brachydactyly type B1 [RCV005048741] | uncertain significance | 9 | 91949872 | 91949872 | Human | 1 | name |
| 597711383 | CV3719742 | single nucleotide variant | NM_004560.4(ROR2):c.86C>T (p.Ser29Phe) | Brachydactyly type B1 [RCV005048742] | uncertain significance | 9 | 91949878 | 91949878 | Human | 1 | name |
| 597711393 | CV3719743 | single nucleotide variant | NM_004560.4(ROR2):c.46C>A (p.Pro16Thr) | Brachydactyly type B1 [RCV005048743] | uncertain significance | 9 | 91949918 | 91949918 | Human | 1 | name |
| 597711403 | CV3719744 | single nucleotide variant | NM_004560.4(ROR2):c.41G>A (p.Cys14Tyr) | Brachydactyly type B1 [RCV005048744] | uncertain significance | 9 | 91949923 | 91949923 | Human | 1 | name |
| 597865470 | CV3767405 | single nucleotide variant | NM_004560.4(ROR2):c.29G>A (p.Arg10Gln) | not provided [RCV005106741] | uncertain significance | 9 | 91949935 | 91949935 | Human | | name |
| 597941426 | CV3769183 | single nucleotide variant | NM_004560.4(ROR2):c.723G>A (p.Ala241=) | not provided [RCV005118678] | likely benign | 9 | 91733336 | 91733336 | Human | | name |
| 597973715 | CV3820564 | single nucleotide variant | NM_004560.4(ROR2):c.600G>A (p.Gly200=) | not provided [RCV005168081] | likely benign | 9 | 91737413 | 91737413 | Human | | name |
| 597857852 | CV3822326 | single nucleotide variant | NM_004560.4(ROR2):c.639C>T (p.Ile213=) | not provided [RCV005174624] | likely benign | 9 | 91733420 | 91733420 | Human | | name |
| 597877396 | CV3825782 | single nucleotide variant | NM_004560.4(ROR2):c.585G>A (p.Ser195=) | not provided [RCV005177656] | likely benign | 9 | 91737428 | 91737428 | Human | | name |
| 597964822 | CV3848045 | single nucleotide variant | NM_004560.4(ROR2):c.624G>A (p.Ala208=) | not provided [RCV005193924] | likely benign | 9 | 91733435 | 91733435 | Human | | name |
| 597903945 | CV3856276 | single nucleotide variant | NM_004560.4(ROR2):c.885C>T (p.Pro295=) | not provided [RCV005202504] | likely benign | 9 | 91733174 | 91733174 | Human | | name |
| 13834511 | CV585759 | single nucleotide variant | NM_004560.4(ROR2):c.37C>G (p.Leu13Val) | Brachydactyly type B1 [RCV002493319]|Inborn genetic diseases [RCV005268740]|ROR2-related disorder [RCV004540048]|not provided [RCV000730048] | uncertain significance | 9 | 91949927 | 91949927 | Human | 3 | name , trait , alternate_id |
| 15104371 | CV751815 | single nucleotide variant | NM_004560.4(ROR2):c.981G>C (p.Thr327=) | not provided [RCV000915338] | likely benign | 9 | 91731112 | 91731112 | Human | | name |
| 15099569 | CV751816 | single nucleotide variant | NM_004560.4(ROR2):c.828C>T (p.Leu276=) | not provided [RCV000914475] | likely benign | 9 | 91733231 | 91733231 | Human | | name |
| 15165667 | CV751817 | single nucleotide variant | NM_004560.4(ROR2):c.825G>A (p.Pro275=) | not provided [RCV000926683] | likely benign | 9 | 91733234 | 91733234 | Human | | name |
| 15198229 | CV751818 | single nucleotide variant | NM_004560.4(ROR2):c.792C>T (p.Cys264=) | not provided [RCV000912198] | likely benign | 9 | 91733267 | 91733267 | Human | | name |
| 15197522 | CV751819 | single nucleotide variant | NM_004560.4(ROR2):c.777G>T (p.Leu259=) | Brachydactyly type B1 [RCV005047147]|not provided [RCV000911996] | likely benign|uncertain significance | 9 | 91733282 | 91733282 | Human | 1 | name |
| 15112857 | CV767506 | single nucleotide variant | NM_004560.4(ROR2):c.525G>A (p.Gln175=) | Brachydactyly type B1 [RCV002489257]|not provided [RCV000939020] | likely benign | 9 | 91737488 | 91737488 | Human | 1 | name |
| 15175305 | CV767507 | single nucleotide variant | NM_004560.4(ROR2):c.306G>A (p.Val102=) | not provided [RCV000928643] | likely benign | 9 | 91757429 | 91757429 | Human | | name |
| 15100539 | CV783480 | single nucleotide variant | NM_004560.4(ROR2):c.435C>T (p.Thr145=) | ROR2-related disorder [RCV004535984]|not provided [RCV000975426] | likely benign | 9 | 91757300 | 91757300 | Human | 1 | name , trait , alternate_id |
| 126765075 | CV1008712 | single nucleotide variant | NM_004560.4(ROR2):c.256G>T (p.Ala86Ser) | Brachydactyly type B1 [RCV005040175]|not provided [RCV001319906] | uncertain significance | 9 | 91757479 | 91757479 | Human | 1 | name |
| 127277160 | CV1076708 | single nucleotide variant | NM_004560.4(ROR2):c.1137G>A (p.Thr379=) | ROR2-related disorder [RCV004531240]|not provided [RCV001407598] | likely benign | 9 | 91730956 | 91730956 | Human | 1 | name , trait , alternate_id |
| 127295338 | CV1119943 | single nucleotide variant | NM_004560.4(ROR2):c.2460C>T (p.Pro820=) | not provided [RCV001477072] | likely benign | 9 | 91724034 | 91724034 | Human | | name |
| 127312111 | CV1119944 | single nucleotide variant | NM_004560.4(ROR2):c.1605C>T (p.Asn535=) | Brachydactyly type B1 [RCV002506538]|not provided [RCV001464294] | likely benign | 9 | 91724889 | 91724889 | Human | 1 | name |
| 127303487 | CV1140771 | single nucleotide variant | NM_004560.4(ROR2):c.1104C>T (p.Pro368=) | Brachydactyly type B1 [RCV002476789]|not provided [RCV001479257] | likely benign | 9 | 91730989 | 91730989 | Human | 1 | name |
| 151801435 | CV1338023 | single nucleotide variant | NM_004560.4(ROR2):c.2415G>A (p.Lys805=) | not provided [RCV001932347] | likely benign|uncertain significance | 9 | 91724079 | 91724079 | Human | | name |
| 151770026 | CV1442145 | single nucleotide variant | NM_004560.4(ROR2):c.281G>A (p.Arg94Gln) | Brachydactyly type B1 [RCV002486515]|not provided [RCV002025267] | uncertain significance | 9 | 91757454 | 91757454 | Human | 1 | name |
| 151786970 | CV1504599 | single nucleotide variant | NM_004560.4(ROR2):c.2442G>A (p.Pro814=) | Brachydactyly type B1 [RCV002497894]|not provided [RCV001951650] | likely benign | 9 | 91724052 | 91724052 | Human | 1 | name |
| 152144890 | CV1543197 | single nucleotide variant | NM_004560.4(ROR2):c.1872C>T (p.Tyr624=) | not provided [RCV002178571] | likely benign | 9 | 91724622 | 91724622 | Human | | name |
| 152150266 | CV1545542 | single nucleotide variant | NM_004560.4(ROR2):c.2358C>T (p.Tyr786=) | not provided [RCV002121641] | likely benign | 9 | 91724136 | 91724136 | Human | | name |
| 152164380 | CV1557592 | single nucleotide variant | NM_004560.4(ROR2):c.2346C>T (p.Ser782=) | not provided [RCV002141509] | likely benign | 9 | 91724148 | 91724148 | Human | | name |
| 152045365 | CV1588780 | single nucleotide variant | NM_004560.4(ROR2):c.2094C>T (p.Asn698=) | not provided [RCV002188773] | likely benign | 9 | 91724400 | 91724400 | Human | | name |
| 152073709 | CV1599035 | single nucleotide variant | NM_004560.4(ROR2):c.2022C>T (p.Asp674=) | not provided [RCV002148428] | likely benign | 9 | 91724472 | 91724472 | Human | | name |
| 152062966 | CV1612001 | single nucleotide variant | NM_004560.4(ROR2):c.2478G>A (p.Pro826=) | Brachydactyly type B1 [RCV002500251]|not provided [RCV002128571] | likely benign | 9 | 91724016 | 91724016 | Human | 1 | name |
| 152081968 | CV1612343 | single nucleotide variant | NM_004560.4(ROR2):c.2388C>T (p.Phe796=) | not provided [RCV002130935] | likely benign | 9 | 91724106 | 91724106 | Human | | name |
| 152062900 | CV1612520 | single nucleotide variant | NM_004560.4(ROR2):c.1317G>T (p.Pro439=) | not provided [RCV002168225] | likely benign | 9 | 91726610 | 91726610 | Human | | name |
| 152077814 | CV1613026 | single nucleotide variant | NM_004560.4(ROR2):c.1548C>T (p.Pro516=) | not provided [RCV002075971] | likely benign | 9 | 91724946 | 91724946 | Human | | name |
| 152108929 | CV1614006 | single nucleotide variant | NM_004560.4(ROR2):c.1800G>A (p.Ala600=) | not provided [RCV002174079] | likely benign | 9 | 91724694 | 91724694 | Human | | name |
| 152153752 | CV1626226 | single nucleotide variant | NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) | Brachydactyly type B1 [RCV002500272]|not provided [RCV002139899] | likely benign | 9 | 91724496 | 91724496 | Human | 1 | name |
| 152048516 | CV1627563 | single nucleotide variant | NM_004560.4(ROR2):c.1549C>T (p.Leu517=) | not provided [RCV002108643] | likely benign | 9 | 91724945 | 91724945 | Human | | name |
| 152147879 | CV1647402 | single nucleotide variant | NM_004560.4(ROR2):c.1992C>T (p.Ile664=) | not provided [RCV002201507] | likely benign | 9 | 91724502 | 91724502 | Human | | name |
| 152046597 | CV1656364 | single nucleotide variant | NM_004560.4(ROR2):c.2604C>T (p.Ser868=) | Brachydactyly type B1 [RCV002499987]|not provided [RCV002126714] | likely benign | 9 | 91723890 | 91723890 | Human | 1 | name |
| 152150761 | CV1661648 | single nucleotide variant | NM_004560.4(ROR2):c.2724C>T (p.Thr908=) | Brachydactyly type B1 [RCV002494038]|not provided [RCV002179412] | likely benign | 9 | 91723770 | 91723770 | Human | 1 | name |
| 152122761 | CV1664264 | single nucleotide variant | NM_004560.4(ROR2):c.1323G>A (p.Arg441=) | ROR2-related disorder [RCV004531515]|not provided [RCV002154471] | likely benign | 9 | 91726604 | 91726604 | Human | 1 | name , trait , alternate_id |
| 152026005 | CV1666154 | single nucleotide variant | NM_004560.4(ROR2):c.1942C>T (p.Leu648=) | not provided [RCV002084655] | likely benign | 9 | 91724552 | 91724552 | Human | | name |
| 9683723 | CV168801 | single nucleotide variant | NM_004560.4(ROR2):c.2154C>T (p.Pro718=) | Autosomal recessive Robinow syndrome [RCV000327784]|Brachydactyly type B1 [RCV000384620]|not provided [RCV001514499]|not specified [RCV000147387] | benign | 9 | 91724340 | 91724340 | Human | 2 | name |
| 9683722 | CV168802 | single nucleotide variant | NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) | Autosomal recessive Robinow syndrome [RCV000269125]|Brachydactyly type B1 [RCV000326426]|not provided [RCV001522559]|not specified [RCV000147386] | benign | 9 | 91724406 | 91724406 | Human | 2 | name |
| 9683719 | CV168805 | single nucleotide variant | NM_004560.4(ROR2):c.1959G>A (p.Leu653=) | Autosomal recessive Robinow syndrome [RCV000147383]|Brachydactyly type B1 [RCV000374484]|not provided [RCV000886960] | benign|likely benign|uncertain significance | 9 | 91724535 | 91724535 | Human | 2 | name |
| 9683718 | CV168806 | single nucleotide variant | NM_004560.4(ROR2):c.1710G>A (p.Pro570=) | Autosomal recessive Robinow syndrome [RCV000273070]|Brachydactyly type B1 [RCV000307221]|not provided [RCV001515731]|not specified [RCV000147382] | benign|likely benign | 9 | 91724784 | 91724784 | Human | 2 | name |
| 156004205 | CV1869698 | single nucleotide variant | NM_004560.4(ROR2):c.154G>A (p.Gly52Ser) | Brachydactyly type B1 [RCV005045217]|Inborn genetic diseases [RCV004070301]|not provided [RCV003076738] | likely benign|uncertain significance | 9 | 91775762 | 91775762 | Human | 2 | name |
| 156377438 | CV1906613 | single nucleotide variant | NM_004560.4(ROR2):c.1162C>T (p.Leu388=) | not provided [RCV003092988] | likely benign | 9 | 91730931 | 91730931 | Human | | name |
| 155958698 | CV1911930 | single nucleotide variant | NM_004560.4(ROR2):c.2193G>A (p.Glu731=) | not provided [RCV002616623] | likely benign | 9 | 91724301 | 91724301 | Human | | name |
| 156271847 | CV1915367 | single nucleotide variant | NM_004560.4(ROR2):c.1140G>A (p.Gln380=) | not provided [RCV002628123] | likely benign | 9 | 91730953 | 91730953 | Human | | name |
| 156414187 | CV1915797 | single nucleotide variant | NM_004560.4(ROR2):c.1047C>T (p.His349=) | not provided [RCV002588461] | likely benign | 9 | 91731046 | 91731046 | Human | | name |
| 156436930 | CV1936752 | single nucleotide variant | NM_004560.4(ROR2):c.2142C>T (p.Pro714=) | not provided [RCV003106455] | likely benign | 9 | 91724352 | 91724352 | Human | | name |
| 156439196 | CV1944060 | single nucleotide variant | NM_004560.4(ROR2):c.1170C>T (p.Asp390=) | not provided [RCV003109152] | likely benign | 9 | 91730923 | 91730923 | Human | | name |
| 156447474 | CV1945429 | single nucleotide variant | NM_004560.4(ROR2):c.2199C>A (p.Pro733=) | not provided [RCV003119002] | likely benign | 9 | 91724295 | 91724295 | Human | | name |
| 156438783 | CV1947402 | single nucleotide variant | NM_004560.4(ROR2):c.2166T>C (p.Tyr722=) | not provided [RCV003108730] | likely benign | 9 | 91724328 | 91724328 | Human | | name |
| 156445971 | CV1950995 | single nucleotide variant | NM_004560.4(ROR2):c.1524G>T (p.Thr508=) | not provided [RCV003116934] | likely benign | 9 | 91724970 | 91724970 | Human | | name |
| 10053226 | CV195972 | single nucleotide variant | NM_004560.4(ROR2):c.1251C>T (p.Val417=) | not provided [RCV000180264] | uncertain significance | 9 | 91726676 | 91726676 | Human | | name |
| 156409855 | CV1961983 | single nucleotide variant | NM_004560.4(ROR2):c.231G>C (p.Gln77His) | not provided [RCV002586959] | uncertain significance | 9 | 91757504 | 91757504 | Human | | name |
| 156410051 | CV1962090 | single nucleotide variant | NM_004560.4(ROR2):c.1086C>T (p.His362=) | not provided [RCV002587030] | likely benign | 9 | 91731007 | 91731007 | Human | | name |
| 155902332 | CV1975729 | single nucleotide variant | NM_004560.4(ROR2):c.1677C>G (p.Gly559=) | not provided [RCV002613463] | likely benign | 9 | 91724817 | 91724817 | Human | | name |
| 156220801 | CV1981284 | single nucleotide variant | NM_004560.4(ROR2):c.280C>T (p.Arg94Trp) | not provided [RCV002626439] | uncertain significance | 9 | 91757455 | 91757455 | Human | | name |
| 156055753 | CV2003362 | single nucleotide variant | NM_004560.4(ROR2):c.2709T>C (p.Asp903=) | not provided [RCV002659515] | likely benign | 9 | 91723785 | 91723785 | Human | | name |
| 156061809 | CV2008294 | single nucleotide variant | NM_004560.4(ROR2):c.2217C>T (p.Phe739=) | not provided [RCV002705412] | likely benign | 9 | 91724277 | 91724277 | Human | | name |
| 156014023 | CV2009027 | single nucleotide variant | NM_004560.4(ROR2):c.137C>A (p.Pro46His) | not provided [RCV002690669] | uncertain significance | 9 | 91775779 | 91775779 | Human | | name |
| 156077861 | CV2011869 | single nucleotide variant | NM_004560.4(ROR2):c.1797C>T (p.Ile599=) | not provided [RCV002705891] | likely benign | 9 | 91724697 | 91724697 | Human | | name |
| 155931270 | CV2035073 | single nucleotide variant | NM_004560.4(ROR2):c.1092C>T (p.Tyr364=) | not provided [RCV002751172] | likely benign | 9 | 91731001 | 91731001 | Human | | name |
| 156258834 | CV2037577 | single nucleotide variant | NM_004560.4(ROR2):c.1179G>A (p.Ser393=) | not provided [RCV002806256] | likely benign | 9 | 91730914 | 91730914 | Human | | name |
| 155950636 | CV2046690 | single nucleotide variant | NM_004560.4(ROR2):c.2070G>A (p.Leu690=) | not provided [RCV002775757] | likely benign | 9 | 91724424 | 91724424 | Human | | name |
| 156026657 | CV2055863 | single nucleotide variant | NM_004560.4(ROR2):c.2169C>T (p.Ala723=) | not provided [RCV002820877] | likely benign | 9 | 91724325 | 91724325 | Human | | name |
| 156041526 | CV2089668 | single nucleotide variant | NM_004560.4(ROR2):c.1143T>C (p.Asn381=) | not provided [RCV002867459] | likely benign | 9 | 91730950 | 91730950 | Human | | name |
| 156118904 | CV2107453 | single nucleotide variant | NM_004560.4(ROR2):c.1851C>T (p.Ala617=) | not provided [RCV002914080] | likely benign | 9 | 91724643 | 91724643 | Human | | name |
| 156130003 | CV2114785 | single nucleotide variant | NM_004560.4(ROR2):c.1272G>A (p.Leu424=) | not provided [RCV002914515] | uncertain significance | 9 | 91726655 | 91726655 | Human | | name |
| 156235847 | CV2118410 | single nucleotide variant | NM_004560.4(ROR2):c.2064C>T (p.Tyr688=) | not provided [RCV002958685] | benign | 9 | 91724430 | 91724430 | Human | | name |
| 156221411 | CV2124382 | single nucleotide variant | NM_004560.4(ROR2):c.2304G>A (p.Thr768=) | ROR2-related disorder [RCV004536473]|not provided [RCV002958156] | likely benign | 9 | 91724190 | 91724190 | Human | 1 | name , trait , alternate_id |
| 155946054 | CV2139449 | single nucleotide variant | NM_004560.4(ROR2):c.2484G>A (p.Pro828=) | not provided [RCV002994348] | likely benign | 9 | 91724010 | 91724010 | Human | | name |
| 156308817 | CV2163851 | single nucleotide variant | NM_004560.4(ROR2):c.140T>A (p.Leu47His) | not provided [RCV003045915] | uncertain significance | 9 | 91775776 | 91775776 | Human | | name |
| 155916072 | CV2281888 | single nucleotide variant | NM_004560.4(ROR2):c.233C>A (p.Thr78Lys) | Inborn genetic diseases [RCV002858979] | uncertain significance | 9 | 91757502 | 91757502 | Human | 1 | name |
| 156391042 | CV2385050 | single nucleotide variant | NM_004560.4(ROR2):c.211A>G (p.Ile71Val) | Inborn genetic diseases [RCV002724751] | uncertain significance | 9 | 91757524 | 91757524 | Human | 1 | name |
| 11551872 | CV253582 | single nucleotide variant | NM_004560.4(ROR2):c.1770C>T (p.Pro590=) | not provided [RCV002058167]|not specified [RCV000253617] | likely benign | 9 | 91724724 | 91724724 | Human | | name |
| 11577762 | CV265732 | single nucleotide variant | NM_004560.4(ROR2):c.1686C>T (p.His562=) | Autosomal recessive Robinow syndrome [RCV000267312]|Brachydactyly type B1 [RCV000364214]|ROR2-related disorder [RCV004535258]|not provided [RCV000953607]|not specified [RCV000354763] | benign | 9 | 91724808 | 91724808 | Human | 2 | name , trait , alternate_id |
| 11643169 | CV268635 | single nucleotide variant | NM_004560.4(ROR2):c.233C>T (p.Thr78Met) | not provided [RCV000388915] | uncertain significance | 9 | 91757502 | 91757502 | Human | | name |
| 11640111 | CV269094 | single nucleotide variant | NM_004560.4(ROR2):c.1671G>A (p.Ser557=) | not provided [RCV000332851] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724823 | 91724823 | Human | | name |
| 11577491 | CV271928 | single nucleotide variant | NM_004560.4(ROR2):c.2727G>A (p.Val909=) | Autosomal recessive Robinow syndrome [RCV000353928]|Brachydactyly type B1 [RCV000261324]|not provided [RCV000961951]|not specified [RCV000264658] | benign|likely benign | 9 | 91723767 | 91723767 | Human | 2 | name |
| 11641710 | CV273458 | single nucleotide variant | NM_004560.4(ROR2):c.2445G>A (p.Pro815=) | ROR2-related disorder [RCV004535425]|not provided [RCV000361595] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724049 | 91724049 | Human | 1 | name , trait , alternate_id |
| 11578927 | CV273667 | single nucleotide variant | NM_004560.4(ROR2):c.2466C>T (p.Asn822=) | Autosomal recessive Robinow syndrome [RCV000291795]|Brachydactyly type B1 [RCV000383743]|not provided [RCV000907683]|not specified [RCV000266094] | benign|likely benign | 9 | 91724028 | 91724028 | Human | 2 | name |
| 405071186 | CV2876545 | single nucleotide variant | NM_004560.4(ROR2):c.1800G>C (p.Ala600=) | not provided [RCV003548542] | likely benign | 9 | 91724694 | 91724694 | Human | | name |
| 405221518 | CV2884318 | single nucleotide variant | NM_004560.4(ROR2):c.2233C>A (p.Arg745=) | not provided [RCV003553841] | likely benign | 9 | 91724261 | 91724261 | Human | | name |
| 405175375 | CV2915559 | single nucleotide variant | NM_004560.4(ROR2):c.2460C>G (p.Pro820=) | not provided [RCV003563490] | likely benign | 9 | 91724034 | 91724034 | Human | | name |
| 405201206 | CV2918599 | single nucleotide variant | NM_004560.4(ROR2):c.2067C>T (p.Gly689=) | not provided [RCV003565963] | likely benign | 9 | 91724427 | 91724427 | Human | | name |
| 402488798 | CV2941534 | single nucleotide variant | NM_004560.4(ROR2):c.1887G>A (p.Val629=) | not provided [RCV003660272] | likely benign | 9 | 91724607 | 91724607 | Human | | name |
| 402493158 | CV2945948 | single nucleotide variant | NM_004560.4(ROR2):c.277G>A (p.Val93Met) | not provided [RCV003660749] | uncertain significance | 9 | 91757458 | 91757458 | Human | | name |
| 405117105 | CV2953430 | single nucleotide variant | NM_004560.4(ROR2):c.2223C>T (p.Asp741=) | not provided [RCV003667039] | likely benign | 9 | 91724271 | 91724271 | Human | | name |
| 405159891 | CV2955063 | single nucleotide variant | NM_004560.4(ROR2):c.1321C>A (p.Arg441=) | not provided [RCV003670651] | likely benign | 9 | 91726606 | 91726606 | Human | | name |
| 405152037 | CV2959784 | single nucleotide variant | NM_004560.4(ROR2):c.219T>G (p.Ile73Met) | not provided [RCV003674017] | uncertain significance | 9 | 91757516 | 91757516 | Human | | name |
| 405213907 | CV2971389 | single nucleotide variant | NM_004560.4(ROR2):c.1368C>T (p.Leu456=) | not provided [RCV003679765] | likely benign | 9 | 91726559 | 91726559 | Human | | name |
| 405023714 | CV3002918 | single nucleotide variant | NM_004560.4(ROR2):c.2430C>G (p.Pro810=) | not provided [RCV003695047] | likely benign | 9 | 91724064 | 91724064 | Human | | name |
| 405227143 | CV3039581 | single nucleotide variant | NM_004560.4(ROR2):c.145G>T (p.Gly49Trp) | not provided [RCV003710900] | uncertain significance | 9 | 91775771 | 91775771 | Human | | name |
| 405243109 | CV3043929 | single nucleotide variant | NM_004560.4(ROR2):c.1896A>G (p.Ser632=) | not provided [RCV003719657] | likely benign | 9 | 91724598 | 91724598 | Human | | name |
| 405126152 | CV3053456 | single nucleotide variant | NM_004560.4(ROR2):c.119C>T (p.Pro40Leu) | not provided [RCV003724391] | uncertain significance | 9 | 91775797 | 91775797 | Human | | name |
| 405216639 | CV3055689 | single nucleotide variant | NM_004560.4(ROR2):c.2229C>T (p.His743=) | not provided [RCV003732740] | likely benign | 9 | 91724265 | 91724265 | Human | | name |
| 405199363 | CV3056626 | single nucleotide variant | NM_004560.4(ROR2):c.2544G>A (p.Pro848=) | not provided [RCV003730603] | likely benign | 9 | 91723950 | 91723950 | Human | | name |
| 405157049 | CV3065049 | single nucleotide variant | NM_004560.4(ROR2):c.1341G>A (p.Ser447=) | not provided [RCV003726832] | likely benign | 9 | 91726586 | 91726586 | Human | | name |
| 405214483 | CV3066451 | single nucleotide variant | NM_004560.4(ROR2):c.2517G>A (p.Pro839=) | not provided [RCV003732453] | likely benign | 9 | 91723977 | 91723977 | Human | | name |
| 405204770 | CV3068010 | single nucleotide variant | NM_004560.4(ROR2):c.1803G>A (p.Ala601=) | not provided [RCV003731193] | likely benign | 9 | 91724691 | 91724691 | Human | | name |
| 405242054 | CV3078592 | single nucleotide variant | NM_004560.4(ROR2):c.1731C>T (p.Thr577=) | not provided [RCV003737491] | likely benign | 9 | 91724763 | 91724763 | Human | | name |
| 11600568 | CV308873 | single nucleotide variant | NM_004560.4(ROR2):c.2190C>T (p.Asn730=) | Autosomal recessive Robinow syndrome [RCV000275056]|Brachydactyly type B1 [RCV000367313]|not provided [RCV002058817] | benign|likely benign|uncertain significance | 9 | 91724304 | 91724304 | Human | 2 | name |
| 11603094 | CV308874 | single nucleotide variant | NM_004560.4(ROR2):c.1491G>A (p.Pro497=) | Autosomal recessive Robinow syndrome [RCV000349239]|Brachydactyly type B1 [RCV000296550]|ROR2-related disorder [RCV004530492]|not provided [RCV000903900] | benign|likely benign|uncertain significance | 9 | 91725003 | 91725003 | Human | 2 | name , trait , alternate_id |
| 405068907 | CV3140189 | single nucleotide variant | NM_004560.4(ROR2):c.2076C>G (p.Pro692=) | not provided [RCV003833344] | likely benign | 9 | 91724418 | 91724418 | Human | | name |
| 405059051 | CV3147903 | single nucleotide variant | NM_004560.4(ROR2):c.1716G>C (p.Ser572=) | not provided [RCV003850133] | likely benign | 9 | 91724778 | 91724778 | Human | | name |
| 405189710 | CV3149587 | single nucleotide variant | NM_004560.4(ROR2):c.2106G>A (p.Val702=) | not provided [RCV003843313] | likely benign | 9 | 91724388 | 91724388 | Human | | name |
| 405170444 | CV3150006 | single nucleotide variant | NM_004560.4(ROR2):c.2013C>T (p.Ile671=) | not provided [RCV003841477] | likely benign | 9 | 91724481 | 91724481 | Human | | name |
| 402472313 | CV3171759 | single nucleotide variant | NM_004560.4(ROR2):c.2556T>G (p.Pro852=) | not provided [RCV003874543] | likely benign | 9 | 91723938 | 91723938 | Human | | name |
| 402503663 | CV3181395 | single nucleotide variant | NM_004560.4(ROR2):c.1539G>A (p.Ala513=) | not provided [RCV003878229] | likely benign | 9 | 91724955 | 91724955 | Human | | name |
| 11607832 | CV319346 | single nucleotide variant | NM_004560.4(ROR2):c.1416G>A (p.Ala472=) | Autosomal recessive Robinow syndrome [RCV000347862]|Brachydactyly type B1 [RCV000397540]|not provided [RCV001464193] | likely benign|uncertain significance | 9 | 91725078 | 91725078 | Human | 2 | name |
| 11603171 | CV319932 | single nucleotide variant | NM_004560.4(ROR2):c.2277G>A (p.Ala759=) | Autosomal recessive Robinow syndrome [RCV000354523]|Brachydactyly type B1 [RCV000297240]|not provided [RCV003766112] | benign|likely benign|uncertain significance | 9 | 91724217 | 91724217 | Human | 2 | name |
| 405294160 | CV3214643 | single nucleotide variant | NM_004560.4(ROR2):c.1674C>T (p.His558=) | ROR2-related disorder [RCV004532167] | likely benign | 9 | 91724820 | 91724820 | Human | | name , trait , alternate_id |
| 405718792 | CV3309790 | single nucleotide variant | NM_004560.4(ROR2):c.224A>G (p.Gln75Arg) | Inborn genetic diseases [RCV004449538] | uncertain significance | 9 | 91757511 | 91757511 | Human | 1 | name |
| 408368460 | CV3512407 | single nucleotide variant | NM_004560.4(ROR2):c.1902G>A (p.Leu634=) | ROR2-related disorder [RCV004735204] | likely benign | 9 | 91724592 | 91724592 | Human | | name , trait , alternate_id |
| 597719104 | CV3586948 | single nucleotide variant | NM_004560.4(ROR2):c.1929C>T (p.Ala643=) | Inborn genetic diseases [RCV004960275] | likely benign | 9 | 91724565 | 91724565 | Human | 1 | name |
| 597710945 | CV3719678 | single nucleotide variant | NM_004560.4(ROR2):c.1950G>T (p.Gly650=) | Brachydactyly type B1 [RCV005048693] | uncertain significance | 9 | 91724544 | 91724544 | Human | 1 | name |
| 597716310 | CV3719684 | single nucleotide variant | NM_004560.4(ROR2):c.1842G>A (p.Lys614=) | Brachydactyly type B1 [RCV005049214] | uncertain significance | 9 | 91724652 | 91724652 | Human | 1 | name |
| 597711083 | CV3719702 | single nucleotide variant | NM_004560.4(ROR2):c.1200C>T (p.Ser400=) | Brachydactyly type B1 [RCV005048708] | uncertain significance | 9 | 91726727 | 91726727 | Human | 1 | name |
| 597711128 | CV3719708 | single nucleotide variant | NM_004560.4(ROR2):c.1104C>A (p.Pro368=) | Brachydactyly type B1 [RCV005048713] | uncertain significance | 9 | 91730989 | 91730989 | Human | 1 | name |
| 597711341 | CV3719738 | single nucleotide variant | NM_004560.4(ROR2):c.268C>T (p.Pro90Ser) | Brachydactyly type B1 [RCV005048737] | uncertain significance | 9 | 91757467 | 91757467 | Human | 1 | name |
| 597711357 | CV3719739 | single nucleotide variant | NM_004560.4(ROR2):c.140T>G (p.Leu47Arg) | Brachydactyly type B1 [RCV005048739] | uncertain significance | 9 | 91775776 | 91775776 | Human | 1 | name |
| 597711367 | CV3719740 | single nucleotide variant | NM_004560.4(ROR2):c.124G>T (p.Asp42Tyr) | Brachydactyly type B1 [RCV005048740] | uncertain significance | 9 | 91775792 | 91775792 | Human | 1 | name |
| 597845081 | CV3736238 | single nucleotide variant | NM_004560.4(ROR2):c.1608C>T (p.Val536=) | not provided [RCV005065586] | likely benign | 9 | 91724886 | 91724886 | Human | | name |
| 597846689 | CV3746229 | single nucleotide variant | NM_004560.4(ROR2):c.1479C>T (p.Phe493=) | not provided [RCV005060046] | likely benign | 9 | 91725015 | 91725015 | Human | | name |
| 597844620 | CV3752639 | single nucleotide variant | NM_004560.4(ROR2):c.2619C>T (p.Tyr873=) | not provided [RCV005087045] | likely benign | 9 | 91723875 | 91723875 | Human | | name |
| 597949314 | CV3772322 | single nucleotide variant | NM_004560.4(ROR2):c.1761G>A (p.Leu587=) | not provided [RCV005120641] | likely benign | 9 | 91724733 | 91724733 | Human | | name |
| 597898829 | CV3807003 | single nucleotide variant | NM_004560.4(ROR2):c.179A>G (p.Tyr60Cys) | not provided [RCV005152390] | uncertain significance | 9 | 91757556 | 91757556 | Human | | name |
| 597914601 | CV3851157 | single nucleotide variant | NM_004560.4(ROR2):c.2116C>A (p.Arg706=) | not provided [RCV005204125] | likely benign | 9 | 91724378 | 91724378 | Human | | name |
| 13515637 | CV490301 | single nucleotide variant | NM_004560.4(ROR2):c.2628G>A (p.Thr876=) | Brachydactyly type B1 [RCV005044884]|not provided [RCV000594530]|not specified [RCV005418229] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91723866 | 91723866 | Human | 1 | name |
| 13517746 | CV491542 | single nucleotide variant | NM_004560.4(ROR2):c.2286G>A (p.Ser762=) | not provided [RCV000596777] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724208 | 91724208 | Human | | name |
| 13832841 | CV584065 | single nucleotide variant | NM_004560.4(ROR2):c.2517G>C (p.Pro839=) | not provided [RCV000727923] | uncertain significance | 9 | 91723977 | 91723977 | Human | | name |
| 13834103 | CV585345 | single nucleotide variant | NM_004560.4(ROR2):c.233C>G (p.Thr78Arg) | not provided [RCV000729540] | uncertain significance | 9 | 91757502 | 91757502 | Human | | name |
| 13834961 | CV586212 | single nucleotide variant | NM_004560.4(ROR2):c.1236C>T (p.Ile412=) | not provided [RCV000730621] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91726691 | 91726691 | Human | | name |
| 13835311 | CV586568 | single nucleotide variant | NM_004560.4(ROR2):c.2424C>T (p.Ile808=) | not provided [RCV000731069] | uncertain significance | 9 | 91724070 | 91724070 | Human | | name |
| 15153553 | CV723655 | single nucleotide variant | NM_004560.4(ROR2):c.2454C>T (p.Tyr818=) | not provided [RCV000880033] | likely benign | 9 | 91724040 | 91724040 | Human | | name |
| 15108658 | CV723657 | single nucleotide variant | NM_004560.4(ROR2):c.2274G>A (p.Ser758=) | Brachydactyly type B1 [RCV002495404]|not provided [RCV000893708]|not specified [RCV001818688] | likely benign | 9 | 91724220 | 91724220 | Human | 1 | name |
| 15201377 | CV723658 | single nucleotide variant | NM_004560.4(ROR2):c.1863G>A (p.Val621=) | Brachydactyly type B1 [RCV002479016]|ROR2-related disorder [RCV004541826]|not provided [RCV000891175] | likely benign | 9 | 91724631 | 91724631 | Human | 2 | name , trait , alternate_id |
| 15113150 | CV723659 | single nucleotide variant | NM_004560.4(ROR2):c.1524G>A (p.Thr508=) | Brachydactyly type B1 [RCV002495413]|ROR2-related disorder [RCV004541844]|not provided [RCV000894607] | likely benign | 9 | 91724970 | 91724970 | Human | 2 | name , trait , alternate_id |
| 15151374 | CV737226 | single nucleotide variant | NM_004560.4(ROR2):c.2757T>C (p.Ser919=) | not provided [RCV000901351] | likely benign | 9 | 91723737 | 91723737 | Human | | name |
| 15119374 | CV737227 | single nucleotide variant | NM_004560.4(ROR2):c.2613A>C (p.Thr871=) | Brachydactyly type B1 [RCV002502619]|not provided [RCV000895714] | likely benign | 9 | 91723881 | 91723881 | Human | 1 | name |
| 15169138 | CV737228 | single nucleotide variant | NM_004560.4(ROR2):c.2451C>T (p.Leu817=) | Brachydactyly type B1 [RCV002502685]|not provided [RCV000904998] | likely benign | 9 | 91724043 | 91724043 | Human | 1 | name |
| 15168962 | CV737229 | single nucleotide variant | NM_004560.4(ROR2):c.2133G>A (p.Leu711=) | not provided [RCV000904964] | likely benign | 9 | 91724361 | 91724361 | Human | | name |
| 15178704 | CV737231 | single nucleotide variant | NM_004560.4(ROR2):c.1830C>T (p.His610=) | not provided [RCV000906937] | likely benign | 9 | 91724664 | 91724664 | Human | | name |
| 15147638 | CV737232 | single nucleotide variant | NM_004560.4(ROR2):c.1776C>T (p.Phe592=) | not provided [RCV000900561] | likely benign | 9 | 91724718 | 91724718 | Human | | name |
| 15158471 | CV737233 | single nucleotide variant | NM_004560.4(ROR2):c.1716G>A (p.Ser572=) | Autosomal recessive Robinow syndrome [RCV001169181]|Brachydactyly type B1 [RCV001169180]|not provided [RCV000902740] | likely benign|uncertain significance | 9 | 91724778 | 91724778 | Human | 2 | name |
| 15140124 | CV737234 | single nucleotide variant | NM_004560.4(ROR2):c.1017G>A (p.Pro339=) | not provided [RCV000899262] | likely benign | 9 | 91731076 | 91731076 | Human | | name |
| 15154396 | CV751810 | single nucleotide variant | NM_004560.4(ROR2):c.2682T>G (p.Ala894=) | not provided [RCV000924252] | likely benign | 9 | 91723812 | 91723812 | Human | | name |
| 15163438 | CV751812 | single nucleotide variant | NM_004560.4(ROR2):c.1860T>C (p.Asn620=) | not provided [RCV000926128] | benign | 9 | 91724634 | 91724634 | Human | | name |
| 15169509 | CV751813 | single nucleotide variant | NM_004560.4(ROR2):c.1647G>A (p.Leu549=) | not provided [RCV000927513] | likely benign | 9 | 91724847 | 91724847 | Human | | name |
| 15199406 | CV751814 | single nucleotide variant | NM_004560.4(ROR2):c.1572G>A (p.Glu524=) | Brachydactyly type B1 [RCV002505343]|not provided [RCV000912538] | likely benign | 9 | 91724922 | 91724922 | Human | 1 | name |
| 15177397 | CV767504 | single nucleotide variant | NM_004560.4(ROR2):c.1737T>C (p.Asp579=) | not provided [RCV000929145] | likely benign | 9 | 91724757 | 91724757 | Human | | name |
| 15100946 | CV767505 | single nucleotide variant | NM_004560.4(ROR2):c.1222T>C (p.Leu408=) | not provided [RCV000936708] | likely benign | 9 | 91726705 | 91726705 | Human | | name |
| 15137084 | CV783476 | single nucleotide variant | NM_004560.4(ROR2):c.2586C>T (p.His862=) | Brachydactyly type B1 [RCV002489449]|not provided [RCV000982227] | likely benign | 9 | 91723908 | 91723908 | Human | 1 | name |
| 15145361 | CV783477 | single nucleotide variant | NM_004560.4(ROR2):c.2349C>T (p.Asn783=) | not provided [RCV000983649] | likely benign | 9 | 91724145 | 91724145 | Human | | name |
| 15143517 | CV783478 | single nucleotide variant | NM_004560.4(ROR2):c.1707G>A (p.Ser569=) | not provided [RCV000983341] | likely benign | 9 | 91724787 | 91724787 | Human | | name |
| 15141298 | CV783479 | single nucleotide variant | NM_004560.4(ROR2):c.1179G>T (p.Ser393=) | not provided [RCV000982956] | likely benign | 9 | 91730914 | 91730914 | Human | | name |
| 28884049 | CV902478 | single nucleotide variant | NM_004560.4(ROR2):c.2382G>A (p.Pro794=) | Autosomal recessive Robinow syndrome [RCV001168383]|Brachydactyly type B1 [RCV001168384]|not provided [RCV001399464] | benign|likely benign|uncertain significance | 9 | 91724112 | 91724112 | Human | 2 | name |
| 28876762 | CV902480 | single nucleotide variant | NM_004560.4(ROR2):c.2208G>T (p.Arg736=) | Autosomal recessive Robinow syndrome [RCV001166212]|Brachydactyly type B1 [RCV001166211] | uncertain significance | 9 | 91724286 | 91724286 | Human | 2 | name |
| 28878320 | CV902481 | single nucleotide variant | NM_004560.4(ROR2):c.2034C>T (p.Tyr678=) | Autosomal recessive Robinow syndrome [RCV001166715]|Brachydactyly type B1 [RCV001166714]|not provided [RCV001436466] | benign|likely benign|uncertain significance | 9 | 91724460 | 91724460 | Human | 2 | name |
| 28884255 | CV902483 | single nucleotide variant | NM_004560.4(ROR2):c.1956G>A (p.Ser652=) | Autosomal recessive Robinow syndrome [RCV001168441]|Brachydactyly type B1 [RCV001168440]|not provided [RCV002559617] | likely benign|uncertain significance | 9 | 91724538 | 91724538 | Human | 2 | name |
| 28878577 | CV902485 | single nucleotide variant | NM_004560.4(ROR2):c.1644C>A (p.Pro548=) | Autosomal recessive Robinow syndrome [RCV001166784]|Brachydactyly type B1 [RCV001166785] | uncertain significance | 9 | 91724850 | 91724850 | Human | 2 | name |
| 28878583 | CV902486 | single nucleotide variant | NM_004560.4(ROR2):c.1596A>G (p.Gln532=) | Autosomal recessive Robinow syndrome [RCV001166787]|Brachydactyly type B1 [RCV001166786]|not provided [RCV002067814] | benign|likely benign|uncertain significance | 9 | 91724898 | 91724898 | Human | 2 | name |
| 28884468 | CV902487 | single nucleotide variant | NM_004560.4(ROR2):c.1566G>T (p.Arg522=) | Autosomal recessive Robinow syndrome [RCV001168502]|Brachydactyly type B1 [RCV001168501] | uncertain significance | 9 | 91724928 | 91724928 | Human | 2 | name |
| 28887062 | CV902489 | single nucleotide variant | NM_004560.4(ROR2):c.1317G>A (p.Pro439=) | Autosomal recessive Robinow syndrome [RCV001169238]|Brachydactyly type B1 [RCV001169239]|not provided [RCV002068036] | benign|uncertain significance | 9 | 91726610 | 91726610 | Human | 2 | name |
| 28887575 | CV902498 | single nucleotide variant | NM_004560.4(ROR2):c.179A>C (p.Tyr60Ser) | Autosomal recessive Robinow syndrome [RCV001169379]|Brachydactyly type B1 [RCV001169380] | uncertain significance | 9 | 91757556 | 91757556 | Human | 2 | name |
| 28887582 | CV902499 | single nucleotide variant | NM_004560.4(ROR2):c.155G>A (p.Gly52Asp) | Autosomal recessive Robinow syndrome [RCV001169381]|Brachydactyly type B1 [RCV001169382]|not provided [RCV002068039] | likely benign|uncertain significance | 9 | 91775761 | 91775761 | Human | 2 | name |
| 28877438 | CV902500 | single nucleotide variant | NM_004560.4(ROR2):c.146G>T (p.Gly49Val) | Autosomal recessive Robinow syndrome [RCV001166439]|Brachydactyly type B1 [RCV001166440] | benign|uncertain significance | 9 | 91775770 | 91775770 | Human | 2 | name |
| 126909902 | CV971529 | deletion | NM_004560.4(ROR2):c.675del (p.Gln225fs) | Autosomal recessive Robinow syndrome [RCV001353130] | pathogenic | 9 | 91733384 | 91733384 | Human | 1 | name |
| 126909898 | CV971532 | single nucleotide variant | NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) | Autosomal recessive Robinow syndrome [RCV001353127] | likely pathogenic | 9 | 91757487 | 91757487 | Human | 1 | name |
| 40886529 | CV973109 | deletion | NM_004560.4(ROR2):c.990del (p.Thr331fs) | Autosomal recessive Robinow syndrome [RCV001265650] | pathogenic | 9 | 91731103 | 91731103 | Human | 1 | name |
| 126732221 | CV993532 | single nucleotide variant | NM_004560.4(ROR2):c.1746G>A (p.Thr582=) | Brachydactyly type B1 [RCV002493595]|not provided [RCV001304048] | likely benign|uncertain significance | 9 | 91724748 | 91724748 | Human | 1 | name |
| 126730155 | CV1000009 | single nucleotide variant | NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) | Brachydactyly type B1 [RCV002504472]|Short stature [RCV001310268]|not provided [RCV002543545] | uncertain significance | 9 | 91733290 | 91733290 | Human | 3 | name |
| 126730153 | CV1000010 | single nucleotide variant | NM_004560.4(ROR2):c.553T>C (p.Phe185Leu) | Short stature [RCV001310266] | uncertain significance | 9 | 91737460 | 91737460 | Human | 2 | name |
| 126730154 | CV1000011 | single nucleotide variant | NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) | Brachydactyly type B1 [RCV002476436]|Short stature [RCV001310267]|not provided [RCV002545032] | uncertain significance | 9 | 91757433 | 91757433 | Human | 3 | name |
| 126754719 | CV1008710 | single nucleotide variant | NM_004560.4(ROR2):c.725G>A (p.Arg242His) | ROR2-related disorder [RCV004528460]|not provided [RCV001316772] | uncertain significance | 9 | 91733334 | 91733334 | Human | 1 | name , trait , alternate_id |
| 126771381 | CV1008711 | single nucleotide variant | NM_004560.4(ROR2):c.329T>C (p.Ile110Thr) | not provided [RCV001323131] | uncertain significance | 9 | 91757406 | 91757406 | Human | | name |
| 126736718 | CV1020659 | single nucleotide variant | NM_004560.4(ROR2):c.361C>T (p.Arg121Ter) | Brachydactyly type B1 [RCV001335148] | pathogenic | 9 | 91757374 | 91757374 | Human | 1 | name |
| 126913784 | CV1046248 | single nucleotide variant | NM_004560.4(ROR2):c.863C>T (p.Ala288Val) | Inborn genetic diseases [RCV004034525]|not provided [RCV001359305] | uncertain significance | 9 | 91733196 | 91733196 | Human | 1 | name |
| 126918529 | CV1046249 | single nucleotide variant | NM_004560.4(ROR2):c.533G>A (p.Arg178Gln) | Brachydactyly type B1 [RCV002488102]|Inborn genetic diseases [RCV002547782]|not provided [RCV001361774] | uncertain significance | 9 | 91737480 | 91737480 | Human | 2 | name |
| 127274410 | CV1065712 | single nucleotide variant | NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) | Autosomal recessive Robinow syndrome [RCV001391176] | likely pathogenic | 9 | 91731143 | 91731143 | Human | 1 | name |
| 150547242 | CV1291952 | single nucleotide variant | NM_004560.4(ROR2):c.362G>A (p.Arg121Gln) | Autosomal recessive Robinow syndrome [RCV001733618]|Inborn genetic diseases [RCV004656643] | uncertain significance | 9 | 91757373 | 91757373 | Human | 2 | name |
| 150548466 | CV1294325 | single nucleotide variant | NM_004560.4(ROR2):c.746G>A (p.Arg249His) | Brachydactyly type B1 [RCV005040347]|not provided [RCV001751817] | uncertain significance | 9 | 91733313 | 91733313 | Human | 1 | name |
| 150543190 | CV1309355 | single nucleotide variant | NM_004560.4(ROR2):c.929T>G (p.Leu310Arg) | not provided [RCV003238427] | uncertain significance | 9 | 91733130 | 91733130 | Human | | name |
| 151787062 | CV1345569 | single nucleotide variant | NM_004560.4(ROR2):c.663C>G (p.Asp221Glu) | Brachydactyly type B1 [RCV005042459]|not provided [RCV001897802] | uncertain significance | 9 | 91733396 | 91733396 | Human | 1 | name |
| 151827722 | CV1348133 | single nucleotide variant | NM_004560.4(ROR2):c.934C>T (p.Arg312Cys) | not provided [RCV001870228] | uncertain significance | 9 | 91733125 | 91733125 | Human | | name |
| 151824096 | CV1352326 | single nucleotide variant | NM_004560.4(ROR2):c.496G>T (p.Asp166Tyr) | not provided [RCV002013675] | uncertain significance | 9 | 91737517 | 91737517 | Human | | name |
| 151877181 | CV1360396 | single nucleotide variant | NM_004560.4(ROR2):c.634A>G (p.Met212Val) | not provided [RCV001907213] | uncertain significance | 9 | 91733425 | 91733425 | Human | | name |
| 151807963 | CV1365364 | single nucleotide variant | NM_004560.4(ROR2):c.765G>C (p.Glu255Asp) | not provided [RCV001899677] | uncertain significance | 9 | 91733294 | 91733294 | Human | | name |
| 151721762 | CV1389024 | single nucleotide variant | NM_004560.4(ROR2):c.902T>A (p.Met301Lys) | not provided [RCV002040186] | uncertain significance | 9 | 91733157 | 91733157 | Human | | name |
| 151767005 | CV1393925 | single nucleotide variant | NM_004560.4(ROR2):c.457C>T (p.Arg153Trp) | Brachydactyly type B1 [RCV002492248]|Inborn genetic diseases [RCV003170382]|not provided [RCV002008480] | uncertain significance | 9 | 91757278 | 91757278 | Human | 2 | name |
| 151878805 | CV1398548 | single nucleotide variant | NM_004560.4(ROR2):c.334C>T (p.Arg112Trp) | Brachydactyly type B1 [RCV002486634]|Inborn genetic diseases [RCV003170535]|not provided [RCV002019877] | uncertain significance | 9 | 91757401 | 91757401 | Human | 2 | name |
| 151774301 | CV1402355 | single nucleotide variant | NM_004560.4(ROR2):c.922G>A (p.Glu308Lys) | Brachydactyly type B1 [RCV005050428]|not provided [RCV001929827] | uncertain significance | 9 | 91733137 | 91733137 | Human | 1 | name |
| 151771081 | CV1410860 | single nucleotide variant | NM_004560.4(ROR2):c.317C>T (p.Pro106Leu) | not provided [RCV001971189] | likely benign | 9 | 91757418 | 91757418 | Human | | name |
| 151795525 | CV1421264 | single nucleotide variant | NM_004560.4(ROR2):c.879G>C (p.Glu293Asp) | not provided [RCV001917221] | uncertain significance | 9 | 91733180 | 91733180 | Human | | name |
| 151767735 | CV1450690 | single nucleotide variant | NM_004560.4(ROR2):c.626C>T (p.Ala209Val) | not provided [RCV001929218] | uncertain significance | 9 | 91733433 | 91733433 | Human | | name |
| 151851179 | CV1460544 | single nucleotide variant | NM_004560.4(ROR2):c.622G>A (p.Ala208Thr) | not provided [RCV001904115] | uncertain significance | 9 | 91737391 | 91737391 | Human | | name |
| 152087945 | CV1594778 | single nucleotide variant | NM_004560.4(ROR2):c.532C>T (p.Arg178Trp) | not provided [RCV002113669] | likely benign | 9 | 91737481 | 91737481 | Human | | name |
| 152042950 | CV1621778 | single nucleotide variant | NM_004560.4(ROR2):c.485A>G (p.His162Arg) | Brachydactyly type B1 [RCV002479908]|not provided [RCV002107987] | benign|likely benign | 9 | 91756080 | 91756080 | Human | 1 | name |
| 152120122 | CV1659382 | single nucleotide variant | NM_004560.4(ROR2):c.538A>G (p.Ile180Val) | not provided [RCV002175458] | benign | 9 | 91737475 | 91737475 | Human | | name |
| 9683731 | CV168808 | single nucleotide variant | NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) | Autosomal recessive Robinow syndrome [RCV000147395]|Brachydactyly type B1 [RCV000276095]|ROR2-related disorder [RCV004544344]|not provided [RCV000894196] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91731107 | 91731107 | Human | 2 | name , trait , alternate_id |
| 9683728 | CV168809 | single nucleotide variant | NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) | Autosomal recessive Robinow syndrome [RCV000299600]|Brachydactyly type B1 [RCV000357148]|not provided [RCV001522560]|not specified [RCV000147392] | benign|likely benign|conflicting interpretations of pathogenicity | 9 | 91733326 | 91733326 | Human | 2 | name |
| 153348763 | CV1692807 | single nucleotide variant | NM_004560.4(ROR2):c.536G>T (p.Gly179Val) | not provided [RCV002274663] | uncertain significance | 9 | 91737477 | 91737477 | Human | | name |
| 156306605 | CV1877794 | single nucleotide variant | NM_004560.4(ROR2):c.623C>T (p.Ala208Val) | not provided [RCV003062219] | uncertain significance | 9 | 91733436 | 91733436 | Human | | name |
| 156153575 | CV1934617 | single nucleotide variant | NM_004560.4(ROR2):c.394T>C (p.Tyr132His) | not provided [RCV002663979] | uncertain significance | 9 | 91757341 | 91757341 | Human | | name |
| 10051532 | CV193553 | single nucleotide variant | NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) | Brachydactyly type B1 [RCV005396538]|not provided [RCV000724079]|not specified [RCV000177208] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91757437 | 91757437 | Human | 1 | name |
| 156444500 | CV1938359 | single nucleotide variant | NM_004560.4(ROR2):c.794G>A (p.Arg265His) | Brachydactyly type B1 [RCV005047419]|not provided [RCV003115424] | uncertain significance | 9 | 91733265 | 91733265 | Human | 1 | name |
| 10052788 | CV195337 | single nucleotide variant | NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) | Autosomal recessive Robinow syndrome [RCV000779586]|Brachydactyly type B1 [RCV001166901]|not provided [RCV001511051]|not specified [RCV000179445] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91733329 | 91733329 | Human | 2 | name |
| 156120594 | CV1969156 | single nucleotide variant | NM_004560.4(ROR2):c.934C>A (p.Arg312Ser) | Inborn genetic diseases [RCV002593115]|not provided [RCV002593114] | uncertain significance | 9 | 91733125 | 91733125 | Human | 1 | name |
| 156419734 | CV1970397 | single nucleotide variant | NM_004560.4(ROR2):c.406G>A (p.Val136Met) | not provided [RCV002612975] | uncertain significance | 9 | 91757329 | 91757329 | Human | | name |
| 156163549 | CV1971348 | single nucleotide variant | NM_004560.4(ROR2):c.824C>T (p.Pro275Leu) | not provided [RCV002594549] | uncertain significance | 9 | 91733235 | 91733235 | Human | | name |
| 156288917 | CV1998051 | single nucleotide variant | NM_004560.4(ROR2):c.743C>T (p.Pro248Leu) | Brachydactyly type B1 [RCV005042943]|Inborn genetic diseases [RCV004958680]|not provided [RCV002647115] | uncertain significance | 9 | 91733316 | 91733316 | Human | 2 | name |
| 156044694 | CV1999185 | single nucleotide variant | NM_004560.4(ROR2):c.310C>T (p.Gln104Ter) | not provided [RCV002659166] | pathogenic | 9 | 91757425 | 91757425 | Human | | name |
| 156362244 | CV2003283 | single nucleotide variant | NM_004560.4(ROR2):c.378C>A (p.Asp126Glu) | not provided [RCV002676324] | uncertain significance | 9 | 91757357 | 91757357 | Human | | name |
| 156208500 | CV2032162 | single nucleotide variant | NM_004560.4(ROR2):c.853A>G (p.Lys285Glu) | not provided [RCV002711672] | uncertain significance | 9 | 91733206 | 91733206 | Human | | name |
| 156284608 | CV2061612 | deletion | NM_004560.4(ROR2):c.2290del (p.Ala764fs) | not provided [RCV002832960] | uncertain significance | 9 | 91724204 | 91724204 | Human | | name |
| 10404026 | CV207728 | single nucleotide variant | NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) | Autosomal recessive Robinow syndrome [RCV001353133]|Brachydactyly type B1 [RCV002503756]|not specified [RCV000193988] | pathogenic|likely pathogenic|uncertain significance | 9 | 91733155 | 91733155 | Human | 2 | name |
| 156101976 | CV2088047 | deletion | NM_004560.4(ROR2):c.1067del (p.Pro356fs) | not provided [RCV002848118] | pathogenic | 9 | 91731026 | 91731026 | Human | | name |
| 156029101 | CV2105306 | single nucleotide variant | NM_004560.4(ROR2):c.980C>T (p.Thr327Met) | not provided [RCV002909982] | uncertain significance | 9 | 91731113 | 91731113 | Human | | name |
| 156007071 | CV2127456 | single nucleotide variant | NM_004560.4(ROR2):c.722C>T (p.Ala241Val) | Inborn genetic diseases [RCV004958862]|not provided [RCV002948068] | uncertain significance | 9 | 91733337 | 91733337 | Human | 1 | name |
| 156179367 | CV2155318 | single nucleotide variant | NM_004560.4(ROR2):c.835A>G (p.Met279Val) | not provided [RCV003005656] | uncertain significance | 9 | 91733224 | 91733224 | Human | | name |
| 8559824 | CV22345 | deletion | NM_004560.4(ROR2):c.2249del (p.Gly750fs) | Brachydactyly type B1 [RCV000007729] | pathogenic | 9 | 91724245 | 91724245 | Human | 1 | name |
| 8597487 | CV22347 | single nucleotide variant | NM_004560.4(ROR2):c.550C>T (p.Arg184Cys) | Autosomal recessive Robinow syndrome [RCV000007731]|Brachydactyly type B1 [RCV005042008] | pathogenic|likely pathogenic | 9 | 91737463 | 91737463 | Human | 2 | name |
| 8597489 | CV22349 | single nucleotide variant | NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) | Autosomal recessive Robinow syndrome [RCV000007733] | pathogenic | 9 | 91737400 | 91737400 | Human | 1 | name |
| 8597491 | CV22353 | single nucleotide variant | NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) | Autosomal recessive Robinow syndrome [RCV000007738]|not provided [RCV000238984] | pathogenic | 9 | 91757380 | 91757380 | Human | 1 | name |
| 8559827 | CV22354 | deletion | NM_004560.4(ROR2):c.622+762_1184-1036del | Autosomal recessive Robinow syndrome [RCV000007739] | pathogenic | 9 | 91727779 | 91736629 | Human | 1 | name |
| 8559828 | CV22355 | duplication | NM_004560.4(ROR2):c.1366dup (p.Leu456fs) | Brachydactyly type B1 [RCV000007740]|not provided [RCV004589500] | pathogenic | 9 | 91726560 | 91726561 | Human | 1 | name |
| 8559829 | CV22356 | deletion | NM_004560.4(ROR2):c.2244del (p.Trp749fs) | Brachydactyly type B1 [RCV000007741] | pathogenic | 9 | 91724250 | 91724250 | Human | 1 | name |
| 156262061 | CV2282451 | single nucleotide variant | NM_004560.4(ROR2):c.727T>G (p.Ser243Ala) | Inborn genetic diseases [RCV002831773] | uncertain significance | 9 | 91733332 | 91733332 | Human | 1 | name |
| 156347299 | CV2315228 | single nucleotide variant | NM_004560.4(ROR2):c.335G>A (p.Arg112Gln) | Inborn genetic diseases [RCV002939341] | uncertain significance | 9 | 91757400 | 91757400 | Human | 1 | name |
| 156168731 | CV2373820 | single nucleotide variant | NM_004560.4(ROR2):c.319C>T (p.Arg107Trp) | Inborn genetic diseases [RCV002698698]|not provided [RCV005099097] | uncertain significance | 9 | 91757416 | 91757416 | Human | 1 | name |
| 156205846 | CV2401520 | single nucleotide variant | NM_004560.4(ROR2):c.640G>C (p.Gly214Arg) | Autosomal recessive Robinow syndrome [RCV002790050] | likely pathogenic | 9 | 91733419 | 91733419 | Human | 1 | name |
| 329847326 | CV2534510 | single nucleotide variant | NM_004560.4(ROR2):c.854A>G (p.Lys285Arg) | Autosomal recessive Robinow syndrome [RCV003228722] | likely pathogenic | 9 | 91733205 | 91733205 | Human | 1 | name |
| 401763604 | CV2704002 | single nucleotide variant | NM_004560.4(ROR2):c.673C>G (p.Gln225Glu) | Inborn genetic diseases [RCV003281582] | uncertain significance | 9 | 91733386 | 91733386 | Human | 1 | name |
| 11642514 | CV270772 | single nucleotide variant | NM_004560.4(ROR2):c.380C>T (p.Thr127Met) | not provided [RCV000376962] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91757355 | 91757355 | Human | | name |
| 11577986 | CV272374 | single nucleotide variant | NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) | Autosomal recessive Robinow syndrome [RCV000329348]|Brachydactyly type B1 [RCV000271810]|Brachydactyly type B1 [RCV005044545]|not provided [RCV000337531] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91737445 | 91737445 | Human | 2 | name |
| 401761979 | CV2726987 | single nucleotide variant | NM_004560.4(ROR2):c.902T>C (p.Met301Thr) | Inborn genetic diseases [RCV003300042]|not provided [RCV003777086] | uncertain significance | 9 | 91733157 | 91733157 | Human | 1 | name |
| 401918764 | CV2794671 | deletion | NM_004560.4(ROR2):c.2254del (p.Leu752fs) | Brachydactyly type B1 [RCV003388345]|not provided [RCV005104271] | pathogenic|uncertain significance | 9 | 91724240 | 91724240 | Human | 1 | name |
| 402478469 | CV2854568 | single nucleotide variant | NM_004560.4(ROR2):c.377A>C (p.Asp126Ala) | not provided [RCV003543751] | uncertain significance | 9 | 91757358 | 91757358 | Human | | name |
| 402494375 | CV2874373 | single nucleotide variant | NM_004560.4(ROR2):c.388A>T (p.Thr130Ser) | not provided [RCV003545240] | uncertain significance | 9 | 91757347 | 91757347 | Human | | name |
| 405212171 | CV2878616 | single nucleotide variant | NM_004560.4(ROR2):c.640G>A (p.Gly214Ser) | not provided [RCV003552753] | uncertain significance | 9 | 91733419 | 91733419 | Human | | name |
| 402515963 | CV2936373 | single nucleotide variant | NM_004560.4(ROR2):c.637A>G (p.Ile213Val) | not provided [RCV003662951] | uncertain significance | 9 | 91733422 | 91733422 | Human | | name |
| 405179387 | CV2956096 | single nucleotide variant | NM_004560.4(ROR2):c.752T>C (p.Leu251Pro) | not provided [RCV003676121] | uncertain significance | 9 | 91733307 | 91733307 | Human | | name |
| 405233008 | CV2965240 | single nucleotide variant | NM_004560.4(ROR2):c.448C>G (p.Leu150Val) | not provided [RCV003682495] | uncertain significance | 9 | 91757287 | 91757287 | Human | | name |
| 405238007 | CV2970008 | single nucleotide variant | NM_004560.4(ROR2):c.888C>G (p.Asp296Glu) | not provided [RCV003683386] | uncertain significance | 9 | 91733171 | 91733171 | Human | | name |
| 405115989 | CV3020056 | single nucleotide variant | NM_004560.4(ROR2):c.604A>G (p.Ile202Val) | not provided [RCV003700245] | uncertain significance | 9 | 91737409 | 91737409 | Human | | name |
| 405178399 | CV3056363 | single nucleotide variant | NM_004560.4(ROR2):c.731G>C (p.Arg244Pro) | Inborn genetic diseases [RCV004953456]|not provided [RCV003728487] | uncertain significance | 9 | 91733328 | 91733328 | Human | 1 | name |
| 402523983 | CV3123602 | single nucleotide variant | NM_004560.4(ROR2):c.941A>G (p.His314Arg) | not provided [RCV003825028] | uncertain significance | 9 | 91731152 | 91731152 | Human | | name |
| 405091009 | CV3138197 | single nucleotide variant | NM_004560.4(ROR2):c.757C>T (p.Arg253Cys) | Brachydactyly type B1 [RCV005040551]|Inborn genetic diseases [RCV004953583]|not provided [RCV003834715] | uncertain significance | 9 | 91733302 | 91733302 | Human | 2 | name |
| 11606089 | CV319349 | single nucleotide variant | NM_004560.4(ROR2):c.935G>A (p.Arg312His) | Autosomal recessive Robinow syndrome [RCV000384676]|Brachydactyly type B1 [RCV000327244]|ROR2-related disorder [RCV004544717]|Short stature [RCV001310265]|not provided [RCV002058819] | benign|likely benign|uncertain significance | 9 | 91733124 | 91733124 | Human | 4 | name , trait , alternate_id |
| 407487202 | CV3479897 | single nucleotide variant | NM_004560.4(ROR2):c.839G>A (p.Arg280Gln) | Inborn genetic diseases [RCV004665620] | uncertain significance | 9 | 91733220 | 91733220 | Human | 1 | name |
| 407513564 | CV3479898 | single nucleotide variant | NM_004560.4(ROR2):c.954C>G (p.Asn318Lys) | Inborn genetic diseases [RCV004674171] | uncertain significance | 9 | 91731139 | 91731139 | Human | 1 | name |
| 596924471 | CV3532274 | single nucleotide variant | NM_004560.4(ROR2):c.685C>A (p.Pro229Thr) | not provided [RCV004777385] | uncertain significance | 9 | 91733374 | 91733374 | Human | | name |
| 596927494 | CV3541104 | duplication | NM_004560.4(ROR2):c.1205dup (p.Met402fs) | Brachydactyly type B1 [RCV004796974] | pathogenic | 9 | 91726721 | 91726722 | Human | 1 | name |
| 597719436 | CV3586943 | single nucleotide variant | NM_004560.4(ROR2):c.708T>G (p.Phe236Leu) | Inborn genetic diseases [RCV004960270] | uncertain significance | 9 | 91733351 | 91733351 | Human | 1 | name |
| 597710823 | CV3719663 | deletion | NM_004560.4(ROR2):c.2353del (p.Arg785fs) | Brachydactyly type B1 [RCV005048679] | likely pathogenic | 9 | 91724141 | 91724141 | Human | 1 | name |
| 597710974 | CV3719683 | deletion | NM_004560.4(ROR2):c.1855del (p.Arg619fs) | Brachydactyly type B1 [RCV005048696] | likely pathogenic | 9 | 91724639 | 91724639 | Human | 1 | name |
| 597711111 | CV3719705 | deletion | NM_004560.4(ROR2):c.1137del (p.Gln380fs) | Brachydactyly type B1 [RCV005048711] | likely pathogenic | 9 | 91730956 | 91730956 | Human | 1 | name |
| 597716364 | CV3719710 | duplication | NM_004560.4(ROR2):c.1083dup (p.His362fs) | Brachydactyly type B1 [RCV005049220] | likely pathogenic | 9 | 91731009 | 91731010 | Human | 1 | name |
| 597711155 | CV3719712 | single nucleotide variant | NM_004560.4(ROR2):c.919G>C (p.Ala307Pro) | Brachydactyly type B1 [RCV005048716] | uncertain significance | 9 | 91733140 | 91733140 | Human | 1 | name |
| 597716373 | CV3719713 | single nucleotide variant | NM_004560.4(ROR2):c.896A>T (p.Asn299Ile) | Brachydactyly type B1 [RCV005049221] | uncertain significance | 9 | 91733163 | 91733163 | Human | 1 | name |
| 597711181 | CV3719716 | single nucleotide variant | NM_004560.4(ROR2):c.847C>G (p.Leu283Val) | Brachydactyly type B1 [RCV005048719] | uncertain significance | 9 | 91733212 | 91733212 | Human | 1 | name |
| 597716382 | CV3719717 | single nucleotide variant | NM_004560.4(ROR2):c.839G>T (p.Arg280Leu) | Brachydactyly type B1 [RCV005049222] | uncertain significance | 9 | 91733220 | 91733220 | Human | 1 | name |
| 597711190 | CV3719718 | single nucleotide variant | NM_004560.4(ROR2):c.837G>T (p.Met279Ile) | Brachydactyly type B1 [RCV005048720] | uncertain significance | 9 | 91733222 | 91733222 | Human | 1 | name |
| 597716390 | CV3719719 | single nucleotide variant | NM_004560.4(ROR2):c.811G>A (p.Ala271Thr) | Brachydactyly type B1 [RCV005049223] | uncertain significance | 9 | 91733248 | 91733248 | Human | 1 | name |
| 597711200 | CV3719720 | single nucleotide variant | NM_004560.4(ROR2):c.799G>T (p.Glu267Ter) | Brachydactyly type B1 [RCV005048721] | likely pathogenic | 9 | 91733260 | 91733260 | Human | 1 | name |
| 597716402 | CV3719722 | single nucleotide variant | NM_004560.4(ROR2):c.768C>G (p.Cys256Trp) | Brachydactyly type B1 [RCV005049224] | uncertain significance | 9 | 91733291 | 91733291 | Human | 1 | name |
| 597711217 | CV3719723 | single nucleotide variant | NM_004560.4(ROR2):c.745C>T (p.Arg249Cys) | Brachydactyly type B1 [RCV005048723] | uncertain significance | 9 | 91733314 | 91733314 | Human | 1 | name |
| 597711225 | CV3719724 | single nucleotide variant | NM_004560.4(ROR2):c.725G>T (p.Arg242Leu) | Brachydactyly type B1 [RCV005048724] | uncertain significance | 9 | 91733334 | 91733334 | Human | 1 | name |
| 597711235 | CV3719725 | single nucleotide variant | NM_004560.4(ROR2):c.713T>C (p.Leu238Pro) | Brachydactyly type B1 [RCV005048725] | uncertain significance | 9 | 91733346 | 91733346 | Human | 1 | name |
| 597711243 | CV3719726 | single nucleotide variant | NM_004560.4(ROR2):c.674A>G (p.Gln225Arg) | Brachydactyly type B1 [RCV005048726] | uncertain significance | 9 | 91733385 | 91733385 | Human | 1 | name |
| 597711253 | CV3719727 | single nucleotide variant | NM_004560.4(ROR2):c.649A>G (p.Thr217Ala) | Brachydactyly type B1 [RCV005048727] | uncertain significance | 9 | 91733410 | 91733410 | Human | 1 | name |
| 597711259 | CV3719728 | single nucleotide variant | NM_004560.4(ROR2):c.644C>T (p.Thr215Met) | Brachydactyly type B1 [RCV005048728] | uncertain significance | 9 | 91733415 | 91733415 | Human | 1 | name |
| 597711265 | CV3719729 | single nucleotide variant | NM_004560.4(ROR2):c.605T>C (p.Ile202Thr) | Brachydactyly type B1 [RCV005048729] | uncertain significance | 9 | 91737408 | 91737408 | Human | 1 | name |
| 597711275 | CV3719730 | single nucleotide variant | NM_004560.4(ROR2):c.565C>T (p.Arg189Trp) | Brachydactyly type B1 [RCV005048730] | uncertain significance | 9 | 91737448 | 91737448 | Human | 1 | name |
| 597711284 | CV3719731 | single nucleotide variant | NM_004560.4(ROR2):c.557T>C (p.Ile186Thr) | Brachydactyly type B1 [RCV005048731] | uncertain significance | 9 | 91737456 | 91737456 | Human | 1 | name |
| 597711294 | CV3719732 | single nucleotide variant | NM_004560.4(ROR2):c.508G>A (p.Glu170Lys) | Brachydactyly type B1 [RCV005048732] | uncertain significance | 9 | 91737505 | 91737505 | Human | 1 | name |
| 597716412 | CV3719733 | single nucleotide variant | NM_004560.4(ROR2):c.477C>A (p.Ser159Arg) | Brachydactyly type B1 [RCV005049225] | uncertain significance | 9 | 91756088 | 91756088 | Human | 1 | name |
| 597711313 | CV3719734 | single nucleotide variant | NM_004560.4(ROR2):c.439A>G (p.Thr147Ala) | Brachydactyly type B1 [RCV005048734] | uncertain significance | 9 | 91757296 | 91757296 | Human | 1 | name |
| 597716422 | CV3719735 | single nucleotide variant | NM_004560.4(ROR2):c.437C>T (p.Ala146Val) | Brachydactyly type B1 [RCV005049226] | uncertain significance | 9 | 91757298 | 91757298 | Human | 1 | name |
| 597711321 | CV3719736 | single nucleotide variant | NM_004560.4(ROR2):c.301C>T (p.Pro101Ser) | Brachydactyly type B1 [RCV005048735] | uncertain significance | 9 | 91757434 | 91757434 | Human | 1 | name |
| 597711330 | CV3719737 | single nucleotide variant | NM_004560.4(ROR2):c.299C>A (p.Ala100Asp) | Brachydactyly type B1 [RCV005048736] | uncertain significance | 9 | 91757436 | 91757436 | Human | 1 | name |
| 597831137 | CV3739920 | single nucleotide variant | NM_004560.4(ROR2):c.907A>G (p.Ile303Val) | not provided [RCV005062618] | uncertain significance | 9 | 91733152 | 91733152 | Human | | name |
| 597928582 | CV3749155 | single nucleotide variant | NM_004560.4(ROR2):c.527C>T (p.Pro176Leu) | not provided [RCV005075611] | uncertain significance | 9 | 91737486 | 91737486 | Human | | name |
| 597868823 | CV3749713 | single nucleotide variant | NM_004560.4(ROR2):c.584C>T (p.Ser195Leu) | not provided [RCV005068394] | uncertain significance | 9 | 91737429 | 91737429 | Human | | name |
| 597850213 | CV3761767 | single nucleotide variant | NM_004560.4(ROR2):c.347A>G (p.Tyr116Cys) | not provided [RCV005087863] | uncertain significance | 9 | 91757388 | 91757388 | Human | | name |
| 597876084 | CV3766565 | single nucleotide variant | NM_004560.4(ROR2):c.701T>C (p.Phe234Ser) | not provided [RCV005108505] | uncertain significance | 9 | 91733358 | 91733358 | Human | | name |
| 597922273 | CV3775673 | single nucleotide variant | NM_004560.4(ROR2):c.531C>G (p.Tyr177Ter) | not provided [RCV005115388] | pathogenic | 9 | 91737482 | 91737482 | Human | | name |
| 597898680 | CV3782600 | single nucleotide variant | NM_004560.4(ROR2):c.913A>T (p.Ile305Phe) | not provided [RCV005126825] | uncertain significance | 9 | 91733146 | 91733146 | Human | | name |
| 597947497 | CV3807538 | single nucleotide variant | NM_004560.4(ROR2):c.679G>A (p.Ala227Thr) | not provided [RCV005160173] | uncertain significance | 9 | 91733380 | 91733380 | Human | | name |
| 597863532 | CV3814040 | single nucleotide variant | NM_004560.4(ROR2):c.315G>T (p.Glu105Asp) | not provided [RCV005147109] | uncertain significance | 9 | 91757420 | 91757420 | Human | | name |
| 597859154 | CV3822449 | single nucleotide variant | NM_004560.4(ROR2):c.794G>T (p.Arg265Leu) | not provided [RCV005174747] | uncertain significance | 9 | 91733265 | 91733265 | Human | | name |
| 598126835 | CV3882293 | deletion | NM_004560.4(ROR2):c.1083del (p.His362fs) | not provided [RCV005233844] | likely pathogenic | 9 | 91731010 | 91731010 | Human | | name |
| 598219649 | CV3906125 | single nucleotide variant | NM_004560.4(ROR2):c.602A>G (p.Glu201Gly) | Inborn genetic diseases [RCV005272108] | uncertain significance | 9 | 91737411 | 91737411 | Human | 1 | name |
| 598176879 | CV4008203 | single nucleotide variant | NM_004560.4(ROR2):c.805A>T (p.Thr269Ser) | Brachydactyly type B1 [RCV005393719] | uncertain significance | 9 | 91733254 | 91733254 | Human | 1 | name |
| 13516140 | CV488545 | single nucleotide variant | NM_004560.4(ROR2):c.871A>G (p.Met291Val) | Brachydactyly type B1 [RCV002483574]|Inborn genetic diseases [RCV004955679]|not provided [RCV000595147] | uncertain significance | 9 | 91733188 | 91733188 | Human | 2 | name |
| 13519388 | CV489879 | single nucleotide variant | NM_004560.4(ROR2):c.808A>G (p.Ile270Val) | Fetal akinesia deformation sequence 1 [RCV000855499]|not provided [RCV000597894] | likely pathogenic|uncertain significance | 9 | 91733251 | 91733251 | Human | 3 | name |
| 15040406 | CV615894 | single nucleotide variant | NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) | Autosomal recessive Robinow syndrome [RCV000855449] | likely pathogenic | 9 | 91757412 | 91757412 | Human | 1 | name |
| 15145404 | CV751820 | single nucleotide variant | NM_004560.4(ROR2):c.721G>A (p.Ala241Thr) | Brachydactyly type B1 [RCV002487999]|Inborn genetic diseases [RCV004029477]|not provided [RCV000922535] | likely benign | 9 | 91733338 | 91733338 | Human | 2 | name |
| 28878775 | CV902493 | single nucleotide variant | NM_004560.4(ROR2):c.989C>T (p.Thr330Ile) | Autosomal recessive Robinow syndrome [RCV001166842]|Brachydactyly type B1 [RCV001166841]|not provided [RCV005093697] | uncertain significance | 9 | 91731104 | 91731104 | Human | 2 | name |
| 28887337 | CV902494 | single nucleotide variant | NM_004560.4(ROR2):c.886G>A (p.Asp296Asn) | Autosomal recessive Robinow syndrome [RCV001169312]|Brachydactyly type B1 [RCV001169311]|not provided [RCV002558681] | uncertain significance | 9 | 91733173 | 91733173 | Human | 2 | name |
| 28887343 | CV902495 | single nucleotide variant | NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) | Autosomal recessive Robinow syndrome [RCV001169314]|Brachydactyly type B1 [RCV001169313]|Brachydactyly type B1 [RCV005394779]|not provided [RCV002067833] | benign|likely benign|uncertain significance | 9 | 91733299 | 91733299 | Human | 2 | name |
| 28877231 | CV902496 | single nucleotide variant | NM_004560.4(ROR2):c.731G>A (p.Arg244Gln) | Autosomal recessive Robinow syndrome [RCV001166380]|Brachydactyly type B1 [RCV001166381] | uncertain significance | 9 | 91733328 | 91733328 | Human | 2 | name |
| 28878982 | CV902497 | single nucleotide variant | NM_004560.4(ROR2):c.722C>A (p.Ala241Glu) | Autosomal recessive Robinow syndrome [RCV001166903]|Brachydactyly type B1 [RCV001166902]|Inborn genetic diseases [RCV004960511]|not provided [RCV001751297] | likely benign|uncertain significance | 9 | 91733337 | 91733337 | Human | 3 | name |
| 126909905 | CV971527 | single nucleotide variant | NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) | Autosomal recessive Robinow syndrome [RCV001353132] | likely pathogenic | 9 | 91733160 | 91733160 | Human | 1 | name |
| 126909903 | CV971528 | single nucleotide variant | NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) | Autosomal recessive Robinow syndrome [RCV001353131] | likely pathogenic | 9 | 91733342 | 91733342 | Human | 1 | name |
| 126909896 | CV971533 | microsatellite | NM_004560.4(ROR2):c.79_80del (p.Ser29fs) | Autosomal recessive Robinow syndrome [RCV001353126] | pathogenic | 9 | 91949884 | 91949885 | Human | | name |
| 126729834 | CV985742 | duplication | NM_004560.4(ROR2):c.2625dup (p.Thr876fs) | Brachydactyly type B1 [RCV001293680]|Short stature [RCV001310271] | likely pathogenic|uncertain significance | 9 | 91723868 | 91723869 | Human | 3 | name |
| 126746325 | CV993533 | single nucleotide variant | NM_004560.4(ROR2):c.703G>A (p.Val235Met) | not provided [RCV001296562] | uncertain significance | 9 | 91733356 | 91733356 | Human | | name |
| 126730161 | CV1000005 | single nucleotide variant | NM_004560.4(ROR2):c.2236C>T (p.Leu746Phe) | Short stature [RCV001310269]|not provided [RCV002543546] | uncertain significance | 9 | 91724258 | 91724258 | Human | 2 | name |
| 126730147 | CV1000006 | single nucleotide variant | NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln) | Short stature [RCV001310264]|not provided [RCV002543544] | likely benign|uncertain significance | 9 | 91724377 | 91724377 | Human | 2 | name |
| 126730163 | CV1000007 | single nucleotide variant | NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) | Brachydactyly type B1 [RCV002476437]|Short stature [RCV001310270]|not provided [RCV003558804] | uncertain significance | 9 | 91724480 | 91724480 | Human | 3 | name |
| 126730144 | CV1000008 | single nucleotide variant | NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn) | Short stature [RCV001310263]|not provided [RCV002070131] | likely benign|uncertain significance | 9 | 91724564 | 91724564 | Human | 2 | name |
| 126735303 | CV1008709 | single nucleotide variant | NM_004560.4(ROR2):c.2820G>C (p.Gln940His) | not provided [RCV001313703] | uncertain significance | 9 | 91723674 | 91723674 | Human | | name |
| 126727554 | CV1017221 | single nucleotide variant | NM_004560.4(ROR2):c.2305C>T (p.Gln769Ter) | Brachydactyly type B1 [RCV001332481]|not provided [RCV001773668] | pathogenic|uncertain significance | 9 | 91724189 | 91724189 | Human | 1 | name |
| 126773917 | CV1029269 | single nucleotide variant | NM_004560.4(ROR2):c.1285C>T (p.Arg429Trp) | Brachydactyly type B1 [RCV005040205]|not provided [RCV001346625] | uncertain significance | 9 | 91726642 | 91726642 | Human | 1 | name |
| 126909746 | CV1046245 | single nucleotide variant | NM_004560.4(ROR2):c.2354G>A (p.Arg785His) | Brachydactyly type B1 [RCV002488145]|Inborn genetic diseases [RCV002550077]|not provided [RCV001368629] | uncertain significance | 9 | 91724140 | 91724140 | Human | 2 | name |
| 126923184 | CV1046246 | single nucleotide variant | NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn) | Brachydactyly type B1 [RCV002476668]|not provided [RCV001365551] | uncertain significance | 9 | 91724621 | 91724621 | Human | 1 | name |
| 126917019 | CV1046247 | single nucleotide variant | NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala) | Brachydactyly type B1 [RCV002488175]|Inborn genetic diseases [RCV002550138]|not provided [RCV001371838] | uncertain significance | 9 | 91724864 | 91724864 | Human | 2 | name |
| 127331591 | CV1140770 | single nucleotide variant | NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr) | Brachydactyly type B1 [RCV005040290]|not provided [RCV001488912] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91723796 | 91723796 | Human | 1 | name |
| 150410053 | CV1177236 | single nucleotide variant | NM_004560.4(ROR2):c.1969C>T (p.Arg657Cys) | Brachydactyly type B1 [RCV005040315]|ROR2-related disorder [RCV004734227]|not provided [RCV001546462] | likely pathogenic|uncertain significance | 9 | 91724525 | 91724525 | Human | 2 | name , trait , alternate_id |
| 150549637 | CV1297161 | single nucleotide variant | NM_004560.4(ROR2):c.1927G>A (p.Ala643Thr) | not provided [RCV001765259] | uncertain significance | 9 | 91724567 | 91724567 | Human | | name |
| 150555645 | CV1304799 | single nucleotide variant | NM_004560.4(ROR2):c.2249G>A (p.Gly750Asp) | Brachydactyly type B1 [RCV005040365]|not provided [RCV001773047] | uncertain significance | 9 | 91724245 | 91724245 | Human | 1 | name |
| 151354086 | CV1327638 | single nucleotide variant | NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys) | Brachydactyly type B1 [RCV002482357]|not provided [RCV001885328]|not specified [RCV001817582] | uncertain significance | 9 | 91724807 | 91724807 | Human | 1 | name |
| 151801472 | CV1365933 | single nucleotide variant | NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn) | Brachydactyly type B1 [RCV002506992]|not provided [RCV001917758] | uncertain significance | 9 | 91724723 | 91724723 | Human | 1 | name |
| 151878664 | CV1370140 | single nucleotide variant | NM_004560.4(ROR2):c.1255G>A (p.Ala419Thr) | not provided [RCV001961360] | uncertain significance | 9 | 91726672 | 91726672 | Human | | name |
| 151801241 | CV1373244 | single nucleotide variant | NM_004560.4(ROR2):c.1715C>T (p.Ser572Leu) | Brachydactyly type B1 [RCV005040434]|Inborn genetic diseases [RCV005271417]|not provided [RCV001932329] | uncertain significance | 9 | 91724779 | 91724779 | Human | 2 | name |
| 151776927 | CV1380999 | single nucleotide variant | NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn) | Brachydactyly type B1 [RCV002486702]|Inborn genetic diseases [RCV003161223]|not provided [RCV002045776] | uncertain significance | 9 | 91724992 | 91724992 | Human | 2 | name |
| 151835843 | CV1382958 | single nucleotide variant | NM_004560.4(ROR2):c.1564C>T (p.Arg522Trp) | Brachydactyly type B1 [RCV005042519]|Inborn genetic diseases [RCV004955837]|not provided [RCV001935544] | uncertain significance | 9 | 91724930 | 91724930 | Human | 2 | name |
| 151831080 | CV1384544 | single nucleotide variant | NM_004560.4(ROR2):c.2725G>A (p.Val909Met) | Inborn genetic diseases [RCV004043644]|not provided [RCV001955687] | uncertain significance | 9 | 91723769 | 91723769 | Human | 1 | name |
| 151765960 | CV1387626 | single nucleotide variant | NM_004560.4(ROR2):c.1240A>G (p.Ile414Val) | Brachydactyly type B1 [RCV002497847]|not provided [RCV001987779] | uncertain significance | 9 | 91726687 | 91726687 | Human | 1 | name |
| 151714665 | CV1392407 | single nucleotide variant | NM_004560.4(ROR2):c.2523G>C (p.Gln841His) | not provided [RCV001908723] | uncertain significance | 9 | 91723971 | 91723971 | Human | | name |
| 151796913 | CV1392696 | single nucleotide variant | NM_004560.4(ROR2):c.1601C>A (p.Pro534His) | Brachydactyly type B1 [RCV002507004]|Inborn genetic diseases [RCV002555315]|not provided [RCV001898701] | uncertain significance | 9 | 91724893 | 91724893 | Human | 2 | name |
| 151711038 | CV1394914 | single nucleotide variant | NM_004560.4(ROR2):c.2467G>A (p.Gly823Ser) | Brachydactyly type B1 [RCV005042625]|not provided [RCV001964300] | uncertain significance | 9 | 91724027 | 91724027 | Human | 1 | name |
| 151833556 | CV1396365 | single nucleotide variant | NM_004560.4(ROR2):c.1757C>T (p.Ala586Val) | not provided [RCV001902047] | uncertain significance | 9 | 91724737 | 91724737 | Human | | name |
| 151828231 | CV1400661 | single nucleotide variant | NM_004560.4(ROR2):c.1955C>T (p.Ser652Leu) | not provided [RCV001976388] | uncertain significance | 9 | 91724539 | 91724539 | Human | | name |
| 151773318 | CV1401281 | single nucleotide variant | NM_004560.4(ROR2):c.2782G>C (p.Asp928His) | Brachydactyly type B1 [RCV002486647]|Inborn genetic diseases [RCV002675459]|not provided [RCV002045458] | uncertain significance | 9 | 91723712 | 91723712 | Human | 2 | name |
| 151788858 | CV1413102 | single nucleotide variant | NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn) | Brachydactyly type B1 [RCV002479568]|not provided [RCV001989877] | uncertain significance | 9 | 91724762 | 91724762 | Human | 1 | name |
| 151740791 | CV1425334 | single nucleotide variant | NM_004560.4(ROR2):c.1604A>G (p.Asn535Ser) | Brachydactyly type B1 [RCV005042529]|not provided [RCV001926448] | uncertain significance | 9 | 91724890 | 91724890 | Human | 1 | name |
| 151794144 | CV1434220 | single nucleotide variant | NM_004560.4(ROR2):c.2725G>C (p.Val909Leu) | not provided [RCV001866523] | uncertain significance | 9 | 91723769 | 91723769 | Human | | name |
| 151789075 | CV1434381 | single nucleotide variant | NM_004560.4(ROR2):c.2233C>T (p.Arg745Trp) | not provided [RCV001876334] | uncertain significance | 9 | 91724261 | 91724261 | Human | | name |
| 151795614 | CV1434494 | single nucleotide variant | NM_004560.4(ROR2):c.1574C>G (p.Ala525Gly) | not provided [RCV001866653] | uncertain significance | 9 | 91724920 | 91724920 | Human | | name |
| 151870429 | CV1436791 | single nucleotide variant | NM_004560.4(ROR2):c.2828C>A (p.Ala943Asp) | not provided [RCV002018865] | uncertain significance | 9 | 91723666 | 91723666 | Human | | name |
| 151867800 | CV1437897 | single nucleotide variant | NM_004560.4(ROR2):c.2359G>A (p.Val787Met) | not provided [RCV001906093] | uncertain significance | 9 | 91724135 | 91724135 | Human | | name |
| 151710876 | CV1443517 | single nucleotide variant | NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu) | Brachydactyly type B1 [RCV002503446]|Inborn genetic diseases [RCV004040547]|not provided [RCV001907976] | uncertain significance | 9 | 91723973 | 91723973 | Human | 2 | name |
| 151777219 | CV1454002 | single nucleotide variant | NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln) | Brachydactyly type B1 [RCV002478320]|Inborn genetic diseases [RCV005271481]|not provided [RCV001915542] | uncertain significance | 9 | 91724581 | 91724581 | Human | 2 | name |
| 151731864 | CV1454337 | single nucleotide variant | NM_004560.4(ROR2):c.1606G>A (p.Val536Ile) | Brachydactyly type B1 [RCV005042544]|not provided [RCV001967194] | uncertain significance | 9 | 91724888 | 91724888 | Human | 1 | name |
| 151774640 | CV1455665 | single nucleotide variant | NM_004560.4(ROR2):c.2267A>G (p.Asn756Ser) | not provided [RCV002045573] | uncertain significance | 9 | 91724227 | 91724227 | Human | | name |
| 151876727 | CV1461438 | single nucleotide variant | NM_004560.4(ROR2):c.2770G>C (p.Glu924Gln) | not provided [RCV001925912] | uncertain significance | 9 | 91723724 | 91723724 | Human | | name |
| 151887023 | CV1464422 | single nucleotide variant | NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) | Autosomal recessive Robinow syndrome [RCV003444965]|Brachydactyly type B1 [RCV005050482]|not provided [RCV001942300] | pathogenic|likely pathogenic | 9 | 91724912 | 91724912 | Human | 2 | name |
| 151832419 | CV1480449 | single nucleotide variant | NM_004560.4(ROR2):c.2378C>T (p.Ala793Val) | Brachydactyly type B1 [RCV005042494]|not provided [RCV001935190] | uncertain significance | 9 | 91724116 | 91724116 | Human | 1 | name |
| 151819191 | CV1488207 | single nucleotide variant | NM_004560.4(ROR2):c.1360A>G (p.Met454Val) | not provided [RCV001975561] | uncertain significance | 9 | 91726567 | 91726567 | Human | | name |
| 151820117 | CV1488510 | single nucleotide variant | NM_004560.4(ROR2):c.2143G>A (p.Asp715Asn) | Inborn genetic diseases [RCV002569321]|not provided [RCV001975644] | uncertain significance | 9 | 91724351 | 91724351 | Human | 1 | name |
| 151760726 | CV1497291 | single nucleotide variant | NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln) | Brachydactyly type B1 [RCV002484671]|Inborn genetic diseases [RCV004955914]|not provided [RCV001987237] | uncertain significance | 9 | 91724941 | 91724941 | Human | 2 | name |
| 151709879 | CV1502016 | single nucleotide variant | NM_004560.4(ROR2):c.2713G>C (p.Ala905Pro) | not provided [RCV001907767] | uncertain significance | 9 | 91723781 | 91723781 | Human | | name |
| 151772799 | CV1504726 | single nucleotide variant | NM_004560.4(ROR2):c.1321C>T (p.Arg441Trp) | not provided [RCV002009009] | uncertain significance | 9 | 91726606 | 91726606 | Human | | name |
| 151811647 | CV1506764 | single nucleotide variant | NM_004560.4(ROR2):c.1624G>A (p.Val542Met) | Brachydactyly type B1 [RCV002484436]|not provided [RCV001918668] | uncertain significance | 9 | 91724870 | 91724870 | Human | 1 | name |
| 151824174 | CV1506889 | single nucleotide variant | NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys) | Brachydactyly type B1 [RCV002479497]|Inborn genetic diseases [RCV004042883]|not provided [RCV001955060] | uncertain significance | 9 | 91724497 | 91724497 | Human | 2 | name |
| 151735816 | CV1506908 | single nucleotide variant | NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln) | Brachydactyly type B1 [RCV002484658]|not provided [RCV001984700] | uncertain significance | 9 | 91725095 | 91725095 | Human | 1 | name |
| 151865446 | CV1507869 | single nucleotide variant | NM_004560.4(ROR2):c.1799C>T (p.Ala600Val) | Brachydactyly type B1 [RCV002492150]|not provided [RCV001997672] | uncertain significance | 9 | 91724695 | 91724695 | Human | 1 | name |
| 151876417 | CV1508094 | single nucleotide variant | NM_004560.4(ROR2):c.2203C>T (p.Arg735Trp) | not provided [RCV001961097] | uncertain significance | 9 | 91724291 | 91724291 | Human | | name |
| 151861214 | CV1511170 | single nucleotide variant | NM_004560.4(ROR2):c.1678G>A (p.Asp560Asn) | Brachydactyly type B1 [RCV005042617]|not provided [RCV001959248] | uncertain significance | 9 | 91724816 | 91724816 | Human | 1 | name |
| 151717143 | CV1513201 | single nucleotide variant | NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys) | Brachydactyly type B1 [RCV002482648]|not provided [RCV001890505] | uncertain significance | 9 | 91724855 | 91724855 | Human | 1 | name |
| 152110799 | CV1519582 | single nucleotide variant | NM_004560.4(ROR2):c.2694G>C (p.Gln898His) | Inborn genetic diseases [RCV003250461]|ROR2-related disorder [RCV004531426]|not provided [RCV002153028] | likely benign|uncertain significance | 9 | 91723800 | 91723800 | Human | 2 | name , trait , alternate_id |
| 152138540 | CV1570923 | single nucleotide variant | NM_004560.4(ROR2):c.1703G>A (p.Arg568His) | Brachydactyly type B1 [RCV005042729]|not provided [RCV002120040] | likely benign|uncertain significance | 9 | 91724791 | 91724791 | Human | 1 | name |
| 152117722 | CV1601003 | single nucleotide variant | NM_004560.4(ROR2):c.1087G>A (p.Ala363Thr) | Brachydactyly type B1 [RCV005050537]|Inborn genetic diseases [RCV004045782]|not provided [RCV002097722] | likely benign|uncertain significance | 9 | 91731006 | 91731006 | Human | 2 | name |
| 152052838 | CV1665094 | single nucleotide variant | NM_004560.4(ROR2):c.1480G>A (p.Gly494Ser) | Brachydactyly type B1 [RCV005042709]|not provided [RCV002089373] | likely benign|uncertain significance | 9 | 91725014 | 91725014 | Human | 1 | name |
| 152041272 | CV1669844 | single nucleotide variant | NM_004560.4(ROR2):c.2030C>T (p.Ser677Phe) | not provided [RCV002224746] | uncertain significance | 9 | 91724464 | 91724464 | Human | | name |
| 152045632 | CV1670310 | single nucleotide variant | NM_004560.4(ROR2):c.1510G>A (p.Val504Met) | Brachydactyly type B1 [RCV002225162] | uncertain significance | 9 | 91724984 | 91724984 | Human | 1 | name |
| 152979419 | CV1675552 | single nucleotide variant | NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr) | Autosomal recessive Robinow syndrome [RCV002244142]|Brachydactyly type B1 [RCV005042752]|not provided [RCV003120847] | uncertain significance | 9 | 91724480 | 91724480 | Human | 2 | name |
| 9683726 | CV168798 | single nucleotide variant | NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) | Autosomal recessive Robinow syndrome [RCV000147390]|Brachydactyly type B1 [RCV000262682]|not provided [RCV000513925]|not specified [RCV000180606] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91723689 | 91723689 | Human | 2 | name |
| 9683725 | CV168799 | single nucleotide variant | NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) | Autosomal dominant Robinow syndrome 1 [RCV000382446]|Autosomal recessive Robinow syndrome [RCV001095340]|Brachydactyly type B1 [RCV000344414]|not provided [RCV001522558]|not specified [RCV000147389] | benign|likely benign|conflicting interpretations of pathogenicity | 9 | 91724039 | 91724039 | Human | 8 | name |
| 9683724 | CV168800 | single nucleotide variant | NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) | Autosomal recessive Robinow syndrome [RCV000398258]|Brachydactyly type B1 [RCV000337021]|Brachydactyly, type B1Robinow syndrome, autosomal recessive [RCV000147388]|not provided [RCV000180603] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724209 | 91724209 | Human | 2 | name |
| 9683721 | CV168803 | single nucleotide variant | NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) | Autosomal recessive Robinow syndrome [RCV000378747]|Brachydactyly type B1 [RCV000286668]|not provided [RCV000906153]|not specified [RCV000147385] | benign | 9 | 91724411 | 91724411 | Human | 2 | name |
| 9683720 | CV168804 | single nucleotide variant | NM_004560.4(ROR2):c.1970G>A (p.Arg657His) | Autosomal recessive Robinow syndrome [RCV001353137]|Brachydactyly type B1 [RCV005042286]|Brachydactyly, type B1Robinow syndrome, autosomal recessive [RCV000147384]|not provided [RCV000171424] | pathogenic|likely pathogenic|uncertain significance | 9 | 91724524 | 91724524 | Human | 2 | name |
| 9683717 | CV168807 | single nucleotide variant | NM_004560.4(ROR2):c.1045C>G (p.His349Asp) | Autosomal recessive Robinow syndrome [RCV000315906]|Brachydactyly type B1 [RCV000354471]|not provided [RCV000224263]|not specified [RCV000147381] | benign | 9 | 91731048 | 91731048 | Human | 2 | name |
| 155266273 | CV1699717 | single nucleotide variant | NM_004560.4(ROR2):c.1801G>A (p.Ala601Thr) | Inborn genetic diseases [RCV003164422]|not provided [RCV005058232]|not specified [RCV002281819] | uncertain significance | 9 | 91724693 | 91724693 | Human | 1 | name |
| 155734776 | CV1774422 | single nucleotide variant | NM_004560.4(ROR2):c.2107G>A (p.Glu703Lys) | not provided [RCV002301878] | uncertain significance | 9 | 91724387 | 91724387 | Human | | name |
| 156306573 | CV1877792 | single nucleotide variant | NM_004560.4(ROR2):c.2278C>T (p.Gln760Ter) | not provided [RCV003062218] | pathogenic | 9 | 91724216 | 91724216 | Human | | name |
| 156202924 | CV1877793 | single nucleotide variant | NM_004560.4(ROR2):c.1742G>A (p.Arg581His) | not provided [RCV003058224] | uncertain significance | 9 | 91724752 | 91724752 | Human | | name |
| 156414674 | CV1909026 | single nucleotide variant | NM_004560.4(ROR2):c.1538C>T (p.Ala513Val) | Inborn genetic diseases [RCV004961090]|not provided [RCV002588744] | uncertain significance | 9 | 91724956 | 91724956 | Human | 1 | name |
| 156449215 | CV1944473 | single nucleotide variant | NM_004560.4(ROR2):c.2353C>T (p.Arg785Cys) | Brachydactyly type B1 [RCV005047415]|not provided [RCV003121328] | likely benign|uncertain significance | 9 | 91724141 | 91724141 | Human | 1 | name |
| 156434300 | CV1946927 | single nucleotide variant | NM_004560.4(ROR2):c.2204G>A (p.Arg735Gln) | not provided [RCV003104381]|not specified [RCV004690386] | uncertain significance | 9 | 91724290 | 91724290 | Human | | name |
| 156443773 | CV1952080 | single nucleotide variant | NM_004560.4(ROR2):c.2645C>G (p.Ser882Cys) | ROR2-related disorder [RCV004529240]|not provided [RCV003114153] | uncertain significance | 9 | 91723849 | 91723849 | Human | 1 | name , trait , alternate_id |
| 156389137 | CV1955160 | single nucleotide variant | NM_004560.4(ROR2):c.2150G>C (p.Cys717Ser) | not provided [RCV002583717] | uncertain significance | 9 | 91724344 | 91724344 | Human | | name |
| 10053020 | CV195675 | single nucleotide variant | NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly) | Brachydactyly type B1 [RCV005049459]|not provided [RCV000179888] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91731039 | 91731039 | Human | 1 | name |
| 156396103 | CV1958967 | single nucleotide variant | NM_004560.4(ROR2):c.1807A>G (p.Met603Val) | Brachydactyly type B1 [RCV005042883]|Inborn genetic diseases [RCV004064571]|not provided [RCV002584374] | uncertain significance | 9 | 91724687 | 91724687 | Human | 2 | name |
| 10053225 | CV195971 | single nucleotide variant | NM_004560.4(ROR2):c.1339T>G (p.Ser447Ala) | not provided [RCV000180263] | uncertain significance | 9 | 91726588 | 91726588 | Human | | name |
| 156079184 | CV1959751 | single nucleotide variant | NM_004560.4(ROR2):c.2446C>A (p.Gln816Lys) | Inborn genetic diseases [RCV004064343]|not provided [RCV002569852] | uncertain significance | 9 | 91724048 | 91724048 | Human | 1 | name |
| 156141992 | CV1959752 | single nucleotide variant | NM_004560.4(ROR2):c.2428C>A (p.Pro810Thr) | Inborn genetic diseases [RCV004064344]|not provided [RCV002572604] | uncertain significance | 9 | 91724066 | 91724066 | Human | 1 | name |
| 156384261 | CV1961099 | single nucleotide variant | NM_004560.4(ROR2):c.1174C>T (p.Pro392Ser) | not provided [RCV002583376] | uncertain significance | 9 | 91730919 | 91730919 | Human | | name |
| 10053430 | CV196255 | single nucleotide variant | NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) | Autosomal recessive Robinow syndrome [RCV000285938]|Brachydactyly type B1 [RCV000343192]|ROR2-related disorder [RCV004537514]|not provided [RCV000180604] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724099 | 91724099 | Human | 2 | name , trait , alternate_id |
| 10053432 | CV196257 | single nucleotide variant | NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) | Autosomal recessive Robinow syndrome [RCV000660425]|Brachydactyly type B1 [RCV002503700]|not provided [RCV000180607] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724414 | 91724414 | Human | 2 | name |
| 156111523 | CV1988797 | single nucleotide variant | NM_004560.4(ROR2):c.1375C>T (p.Gln459Ter) | not provided [RCV002622597] | pathogenic | 9 | 91726552 | 91726552 | Human | | name |
| 156124147 | CV1992835 | single nucleotide variant | NM_004560.4(ROR2):c.2485G>A (p.Ala829Thr) | not provided [RCV002623059] | uncertain significance | 9 | 91724009 | 91724009 | Human | | name |
| 155909423 | CV2017538 | single nucleotide variant | NM_004560.4(ROR2):c.1165T>C (p.Cys389Arg) | not provided [RCV002681605] | uncertain significance | 9 | 91730928 | 91730928 | Human | | name |
| 156020525 | CV2019325 | single nucleotide variant | NM_004560.4(ROR2):c.2062T>G (p.Tyr688Asp) | not provided [RCV002690977] | uncertain significance | 9 | 91724432 | 91724432 | Human | | name |
| 156146383 | CV2026628 | single nucleotide variant | NM_004560.4(ROR2):c.1739A>T (p.Asp580Val) | not provided [RCV002741080] | uncertain significance | 9 | 91724755 | 91724755 | Human | | name |
| 155946801 | CV2035935 | single nucleotide variant | NM_004560.4(ROR2):c.1340C>T (p.Ser447Leu) | not provided [RCV002775531] | uncertain significance | 9 | 91726587 | 91726587 | Human | | name |
| 156010276 | CV2039101 | single nucleotide variant | NM_004560.4(ROR2):c.1016C>T (p.Pro339Leu) | not provided [RCV002795062] | uncertain significance | 9 | 91731077 | 91731077 | Human | | name |
| 156281064 | CV2055028 | single nucleotide variant | NM_004560.4(ROR2):c.1117G>A (p.Glu373Lys) | not provided [RCV002832841] | uncertain significance | 9 | 91730976 | 91730976 | Human | | name |
| 156201663 | CV2092522 | single nucleotide variant | NM_004560.4(ROR2):c.1834G>C (p.Val612Leu) | not provided [RCV002917808] | likely benign | 9 | 91724660 | 91724660 | Human | | name |
| 156340308 | CV2106958 | single nucleotide variant | NM_004560.4(ROR2):c.1745C>T (p.Thr582Met) | Brachydactyly type B1 [RCV005045082]|Inborn genetic diseases [RCV004661510]|not provided [RCV002938861] | uncertain significance | 9 | 91724749 | 91724749 | Human | 2 | name |
| 156378304 | CV2121606 | single nucleotide variant | NM_004560.4(ROR2):c.2230A>T (p.Ser744Cys) | Brachydactyly type B1 [RCV005045095]|not provided [RCV002942936] | uncertain significance | 9 | 91724264 | 91724264 | Human | 1 | name |
| 155908435 | CV2130963 | single nucleotide variant | NM_004560.4(ROR2):c.1355T>C (p.Met452Thr) | not provided [RCV002967864] | uncertain significance | 9 | 91726572 | 91726572 | Human | | name |
| 156154486 | CV2150712 | single nucleotide variant | NM_004560.4(ROR2):c.1422G>T (p.Arg474Ser) | not provided [RCV003022970] | uncertain significance | 9 | 91725072 | 91725072 | Human | | name |
| 156148376 | CV2154284 | single nucleotide variant | NM_004560.4(ROR2):c.1325G>A (p.Arg442Gln) | not provided [RCV003022766] | uncertain significance | 9 | 91726602 | 91726602 | Human | | name |
| 156007725 | CV2175652 | single nucleotide variant | NM_004560.4(ROR2):c.1811A>G (p.Glu604Gly) | not provided [RCV003035073] | uncertain significance | 9 | 91724683 | 91724683 | Human | | name |
| 155956919 | CV2182522 | single nucleotide variant | NM_004560.4(ROR2):c.1576A>G (p.Met526Val) | not provided [RCV003032733] | uncertain significance | 9 | 91724918 | 91724918 | Human | | name |
| 156293663 | CV2183156 | single nucleotide variant | NM_004560.4(ROR2):c.2374A>G (p.Lys792Glu) | not provided [RCV003027783] | uncertain significance | 9 | 91724120 | 91724120 | Human | | name |
| 156172509 | CV2194257 | single nucleotide variant | NM_004560.4(ROR2):c.2058C>A (p.Phe686Leu) | Inborn genetic diseases [RCV002664810]|not provided [RCV005059198] | uncertain significance | 9 | 91724436 | 91724436 | Human | 1 | name |
| 156231864 | CV2199693 | single nucleotide variant | NM_004560.4(ROR2):c.1709C>T (p.Pro570Leu) | Brachydactyly type B1 [RCV005050764]|Inborn genetic diseases [RCV002645004]|not provided [RCV005099444] | uncertain significance | 9 | 91724785 | 91724785 | Human | 2 | name |
| 156284892 | CV2232752 | single nucleotide variant | NM_004560.4(ROR2):c.2065G>A (p.Gly689Ser) | Inborn genetic diseases [RCV002747340] | uncertain significance | 9 | 91724429 | 91724429 | Human | 1 | name |
| 8597484 | CV22343 | single nucleotide variant | NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter) | Brachydactyly type B1 [RCV000007727]|not provided [RCV002468964] | pathogenic | 9 | 91724229 | 91724229 | Human | 1 | name |
| 8597485 | CV22344 | single nucleotide variant | NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter) | Brachydactyly type B1 [RCV000007728] | pathogenic | 9 | 91724248 | 91724248 | Human | 1 | name |
| 8597486 | CV22346 | single nucleotide variant | NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) | Autosomal recessive Robinow syndrome [RCV000007730] | pathogenic | 9 | 91724990 | 91724990 | Human | 1 | name |
| 8597488 | CV22348 | single nucleotide variant | NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter) | Autosomal recessive Robinow syndrome [RCV000007732] | pathogenic | 9 | 91724334 | 91724334 | Human | 1 | name |
| 8597490 | CV22351 | single nucleotide variant | NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter) | Brachydactyly type B1 [RCV000007736] | pathogenic | 9 | 91724247 | 91724247 | Human | 1 | name |
| 8597492 | CV22357 | single nucleotide variant | NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) | Autosomal recessive Robinow syndrome [RCV000761457]|Brachydactyly type B1 [RCV005042009]|Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly [RCV000007742]|not provided [RCV003441709] | pathogenic | 9 | 91726603 | 91726603 | Human | 2 | name |
| 156298826 | CV2248556 | single nucleotide variant | NM_004560.4(ROR2):c.2633C>A (p.Pro878His) | Inborn genetic diseases [RCV002807921]|not provided [RCV003777763] | uncertain significance | 9 | 91723861 | 91723861 | Human | 1 | name |
| 156113591 | CV2263842 | single nucleotide variant | NM_004560.4(ROR2):c.2167G>C (p.Ala723Pro) | Inborn genetic diseases [RCV002848603] | uncertain significance | 9 | 91724327 | 91724327 | Human | 1 | name |
| 156154781 | CV2266100 | single nucleotide variant | NM_004560.4(ROR2):c.2110A>G (p.Met704Val) | Inborn genetic diseases [RCV002827004] | uncertain significance | 9 | 91724384 | 91724384 | Human | 1 | name |
| 156041577 | CV2279217 | single nucleotide variant | NM_004560.4(ROR2):c.1681C>T (p.Leu561Phe) | Inborn genetic diseases [RCV002846101] | uncertain significance | 9 | 91724813 | 91724813 | Human | 1 | name |
| 156091377 | CV2300043 | single nucleotide variant | NM_004560.4(ROR2):c.1499A>T (p.Gln500Leu) | Inborn genetic diseases [RCV002869846] | uncertain significance | 9 | 91724995 | 91724995 | Human | 1 | name |
| 156242541 | CV2347006 | single nucleotide variant | NM_004560.4(ROR2):c.1523C>T (p.Thr508Met) | Brachydactyly type B1 [RCV005047367]|Inborn genetic diseases [RCV002987471]|not provided [RCV005099008] | uncertain significance | 9 | 91724971 | 91724971 | Human | 2 | name |
| 156083540 | CV2369034 | single nucleotide variant | NM_004560.4(ROR2):c.1711C>T (p.His571Tyr) | Brachydactyly type B1 [RCV005047372]|Inborn genetic diseases [RCV003001434] | uncertain significance | 9 | 91724783 | 91724783 | Human | 2 | name |
| 156113010 | CV2387975 | single nucleotide variant | NM_004560.4(ROR2):c.2467G>C (p.Gly823Arg) | Brachydactyly type B1 [RCV005399240]|Inborn genetic diseases [RCV002739841] | uncertain significance | 9 | 91724027 | 91724027 | Human | 2 | name |
| 156205829 | CV2401519 | single nucleotide variant | NM_004560.4(ROR2):c.1856G>A (p.Arg619His) | Autosomal recessive Robinow syndrome [RCV002790049]|Inborn genetic diseases [RCV003269526] | likely pathogenic|uncertain significance | 9 | 91724638 | 91724638 | Human | 2 | name |
| 243051135 | CV2413773 | single nucleotide variant | NM_004560.4(ROR2):c.1331T>G (p.Leu444Arg) | not provided [RCV003130417] | uncertain significance | 9 | 91726596 | 91726596 | Human | | name |
| 329350831 | CV2421848 | single nucleotide variant | NM_004560.4(ROR2):c.1133T>C (p.Phe378Ser) | Autosomal recessive Robinow syndrome [RCV003159550] | uncertain significance | 9 | 91730960 | 91730960 | Human | 1 | name |
| 11637855 | CV265630 | single nucleotide variant | NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln) | Inborn genetic diseases [RCV002518815]|not provided [RCV000293401] | conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724929 | 91724929 | Human | 1 | name |
| 11638992 | CV265666 | single nucleotide variant | NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) | Autosomal recessive Robinow syndrome [RCV001169179]|Brachydactyly type B1 [RCV001169178]|ROR2-related disorder [RCV004542985]|not provided [RCV000312525] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724758 | 91724758 | Human | 2 | name , trait , alternate_id |
| 11580163 | CV266997 | single nucleotide variant | NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) | Autosomal recessive Robinow syndrome [RCV000324883]|Brachydactyly type B1 [RCV000377123]|Inborn genetic diseases [RCV002519120]|not provided [RCV000406751] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724824 | 91724824 | Human | 3 | name |
| 11579843 | CV268846 | single nucleotide variant | NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) | Autosomal recessive Robinow syndrome [RCV000395654]|Brachydactyly type B1 [RCV000314104]|ROR2-related disorder [RCV004543050]|not provided [RCV000324852] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724738 | 91724738 | Human | 2 | name , trait , alternate_id |
| 11578330 | CV268870 | single nucleotide variant | NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) | Autosomal recessive Robinow syndrome [RCV000279061]|Brachydactyly type B1 [RCV000509126]|not provided [RCV000891712]|not specified [RCV000288113] | benign|likely benign|uncertain significance|not provided | 9 | 91724905 | 91724905 | Human | 2 | name |
| 11643758 | CV270521 | single nucleotide variant | NM_004560.4(ROR2):c.1885G>A (p.Val629Met) | Brachydactyly type B1 [RCV002487234]|Inborn genetic diseases [RCV005268583]|not provided [RCV000399951] | uncertain significance | 9 | 91724609 | 91724609 | Human | 2 | name |
| 11637996 | CV270530 | single nucleotide variant | NM_004560.4(ROR2):c.2240G>A (p.Arg747Gln) | Brachydactyly type B1 [RCV005049514]|Inborn genetic diseases [RCV002519220]|not provided [RCV000659115] | likely benign|uncertain significance | 9 | 91724254 | 91724254 | Human | 2 | name |
| 11641871 | CV270562 | single nucleotide variant | NM_004560.4(ROR2):c.2155G>A (p.Ala719Thr) | Brachydactyly type B1 [RCV002487235]|not provided [RCV000363220] | uncertain significance | 9 | 91724339 | 91724339 | Human | 1 | name |
| 401741809 | CV2706373 | single nucleotide variant | NM_004560.4(ROR2):c.2320A>C (p.Ser774Arg) | Inborn genetic diseases [RCV003292684]|not provided [RCV003561279] | uncertain significance | 9 | 91724174 | 91724174 | Human | 1 | name |
| 401776122 | CV2706892 | single nucleotide variant | NM_004560.4(ROR2):c.1573G>A (p.Ala525Thr) | Inborn genetic diseases [RCV003263125] | uncertain significance | 9 | 91724921 | 91724921 | Human | 1 | name |
| 11636142 | CV271177 | single nucleotide variant | NM_004560.4(ROR2):c.1153C>T (p.Arg385Cys) | not provided [RCV000263816] | uncertain significance | 9 | 91730940 | 91730940 | Human | | name |
| 11580427 | CV271564 | single nucleotide variant | NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) | Autosomal recessive Robinow syndrome [RCV000389667]|Brachydactyly type B1 [RCV000332907]|not provided [RCV000330356] | benign|likely benign|uncertain significance | 9 | 91723810 | 91723810 | Human | 2 | name |
| 11643296 | CV273293 | single nucleotide variant | NM_004560.4(ROR2):c.1736A>G (p.Asp579Gly) | not provided [RCV000391310] | uncertain significance | 9 | 91724758 | 91724758 | Human | | name |
| 11638077 | CV273505 | single nucleotide variant | NM_004560.4(ROR2):c.2489A>G (p.Tyr830Cys) | Inborn genetic diseases [RCV002518078]|not provided [RCV000296968] | uncertain significance | 9 | 91724005 | 91724005 | Human | 1 | name |
| 11579791 | CV273661 | single nucleotide variant | NM_004560.4(ROR2):c.1712A>G (p.His571Arg) | Autosomal recessive Robinow syndrome [RCV000365373]|Brachydactyly type B1 [RCV000312844]|Brachydactyly type B1 [RCV002480043]|not provided [RCV000907684]|not specified [RCV000273411] | benign|likely benign | 9 | 91724782 | 91724782 | Human | 2 | name |
| 401887168 | CV2775735 | single nucleotide variant | NM_004560.4(ROR2):c.2324C>G (p.Thr775Ser) | Inborn genetic diseases [RCV003352261] | uncertain significance | 9 | 91724170 | 91724170 | Human | 1 | name |
| 401881867 | CV2784864 | single nucleotide variant | NM_004560.4(ROR2):c.2033A>G (p.Tyr678Cys) | Inborn genetic diseases [RCV003365086] | uncertain significance | 9 | 91724461 | 91724461 | Human | 1 | name |
| 401905242 | CV2796156 | single nucleotide variant | NM_004560.4(ROR2):c.2429C>T (p.Pro810Leu) | ROR2-related disorder [RCV004538980] | uncertain significance | 9 | 91724065 | 91724065 | Human | | name , trait , alternate_id |
| 401934029 | CV2802447 | single nucleotide variant | NM_004560.4(ROR2):c.2632C>G (p.Pro878Ala) | ROR2-related disorder [RCV004536673]|not provided [RCV005099985] | uncertain significance | 9 | 91723862 | 91723862 | Human | 1 | name , trait , alternate_id |
| 401901763 | CV2804604 | single nucleotide variant | NM_004560.4(ROR2):c.2729A>G (p.Gln910Arg) | ROR2-related disorder [RCV004534413] | uncertain significance | 9 | 91723765 | 91723765 | Human | | name , trait , alternate_id |
| 401918288 | CV2826193 | single nucleotide variant | NM_004560.4(ROR2):c.1079G>C (p.Gly360Ala) | not provided [RCV003430128] | uncertain significance | 9 | 91731014 | 91731014 | Human | | name |
| 401918289 | CV2826194 | single nucleotide variant | NM_004560.4(ROR2):c.1034C>G (p.Pro345Arg) | not provided [RCV003430129] | uncertain significance | 9 | 91731059 | 91731059 | Human | | name |
| 402502213 | CV2869291 | single nucleotide variant | NM_004560.4(ROR2):c.2411T>C (p.Met804Thr) | Brachydactyly type B1 [RCV005051325]|not provided [RCV003546025] | uncertain significance | 9 | 91724083 | 91724083 | Human | 1 | name |
| 405207013 | CV2874069 | single nucleotide variant | NM_004560.4(ROR2):c.1366C>T (p.Leu456Phe) | not provided [RCV003552070] | uncertain significance | 9 | 91726561 | 91726561 | Human | | name |
| 402505846 | CV2880622 | single nucleotide variant | NM_004560.4(ROR2):c.1199G>C (p.Ser400Thr) | not provided [RCV003546354] | uncertain significance | 9 | 91726728 | 91726728 | Human | | name |
| 405237643 | CV2881230 | single nucleotide variant | NM_004560.4(ROR2):c.2134C>T (p.Pro712Ser) | not provided [RCV003556716] | uncertain significance | 9 | 91724360 | 91724360 | Human | | name |
| 402495166 | CV2883700 | single nucleotide variant | NM_004560.4(ROR2):c.1300G>C (p.Ala434Pro) | not provided [RCV003573410] | uncertain significance | 9 | 91726627 | 91726627 | Human | | name |
| 405203493 | CV2915237 | single nucleotide variant | NM_004560.4(ROR2):c.2597G>C (p.Ser866Thr) | not provided [RCV003566205] | uncertain significance | 9 | 91723897 | 91723897 | Human | | name |
| 405200826 | CV2918551 | single nucleotide variant | NM_004560.4(ROR2):c.2479G>T (p.Val827Leu) | not provided [RCV003565928] | uncertain significance | 9 | 91724015 | 91724015 | Human | | name |
| 402464063 | CV2919951 | single nucleotide variant | NM_004560.4(ROR2):c.2549A>T (p.Gln850Leu) | not provided [RCV003568915] | uncertain significance | 9 | 91723945 | 91723945 | Human | | name |
| 402464066 | CV2919952 | single nucleotide variant | NM_004560.4(ROR2):c.1318C>T (p.Gln440Ter) | not provided [RCV003568916] | pathogenic | 9 | 91726609 | 91726609 | Human | | name |
| 405194831 | CV2925670 | single nucleotide variant | NM_004560.4(ROR2):c.1027C>T (p.Gln343Ter) | not provided [RCV003565192] | pathogenic | 9 | 91731066 | 91731066 | Human | | name |
| 402505250 | CV2927675 | single nucleotide variant | NM_004560.4(ROR2):c.2135C>T (p.Pro712Leu) | not provided [RCV003574391] | uncertain significance | 9 | 91724359 | 91724359 | Human | | name |
| 405123720 | CV2942602 | single nucleotide variant | NM_004560.4(ROR2):c.2789A>T (p.Asp930Val) | Brachydactyly type B1 [RCV005047723]|not provided [RCV003671747] | uncertain significance | 9 | 91723705 | 91723705 | Human | 1 | name |
| 402512710 | CV2948494 | single nucleotide variant | NM_004560.4(ROR2):c.1490C>A (p.Pro497Gln) | not provided [RCV003662696] | uncertain significance | 9 | 91725004 | 91725004 | Human | | name |
| 405211316 | CV2966967 | single nucleotide variant | NM_004560.4(ROR2):c.1853C>T (p.Thr618Ile) | not provided [RCV003679435] | uncertain significance | 9 | 91724641 | 91724641 | Human | | name |
| 405214892 | CV2967650 | single nucleotide variant | NM_004560.4(ROR2):c.1531G>A (p.Asp511Asn) | not provided [RCV003679835] | uncertain significance | 9 | 91724963 | 91724963 | Human | | name |
| 405115312 | CV2985637 | single nucleotide variant | NM_004560.4(ROR2):c.1148A>G (p.Asn383Ser) | not provided [RCV003723195] | uncertain significance | 9 | 91730945 | 91730945 | Human | | name |
| 402489235 | CV2987628 | single nucleotide variant | NM_004560.4(ROR2):c.1852A>G (p.Thr618Ala) | not provided [RCV003713487] | uncertain significance | 9 | 91724642 | 91724642 | Human | | name |
| 405015782 | CV2995335 | single nucleotide variant | NM_004560.4(ROR2):c.1436T>C (p.Leu479Pro) | not provided [RCV003694380] | uncertain significance | 9 | 91725058 | 91725058 | Human | | name |
| 405178245 | CV3027460 | single nucleotide variant | NM_004560.4(ROR2):c.2693A>G (p.Gln898Arg) | not provided [RCV003705234] | uncertain significance | 9 | 91723801 | 91723801 | Human | | name |
| 405234842 | CV3040708 | single nucleotide variant | NM_004560.4(ROR2):c.2213G>A (p.Arg738His) | Brachydactyly type B1 [RCV005047793]|Inborn genetic diseases [RCV004373912]|not provided [RCV003712151] | uncertain significance | 9 | 91724281 | 91724281 | Human | 2 | name |
| 405242993 | CV3043876 | single nucleotide variant | NM_004560.4(ROR2):c.2191G>A (p.Glu731Lys) | not provided [RCV003719631] | uncertain significance | 9 | 91724303 | 91724303 | Human | | name |
| 405225474 | CV3058462 | single nucleotide variant | NM_004560.4(ROR2):c.1841A>G (p.Lys614Arg) | not provided [RCV003733966] | uncertain significance | 9 | 91724653 | 91724653 | Human | | name |
| 405162356 | CV3062697 | single nucleotide variant | NM_004560.4(ROR2):c.2116C>T (p.Arg706Trp) | Inborn genetic diseases [RCV004673964]|not provided [RCV003727189] | uncertain significance | 9 | 91724378 | 91724378 | Human | 1 | name |
| 405153381 | CV3068642 | single nucleotide variant | NM_004560.4(ROR2):c.1646T>C (p.Leu549Pro) | not provided [RCV003726579] | uncertain significance | 9 | 91724848 | 91724848 | Human | | name |
| 405227403 | CV3069597 | single nucleotide variant | NM_004560.4(ROR2):c.1831G>A (p.Val611Met) | Inborn genetic diseases [RCV004953488]|not provided [RCV003734289] | uncertain significance | 9 | 91724663 | 91724663 | Human | 1 | name |
| 405236056 | CV3079617 | single nucleotide variant | NM_004560.4(ROR2):c.2273C>T (p.Ser758Leu) | not provided [RCV003735920] | uncertain significance | 9 | 91724221 | 91724221 | Human | | name |
| 11602419 | CV308875 | single nucleotide variant | NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) | Autosomal recessive Robinow syndrome [RCV000290524]|Brachydactyly type B1 [RCV000397545]|not provided [RCV000731519] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91725046 | 91725046 | Human | 2 | name |
| 11603649 | CV308887 | single nucleotide variant | NM_004560.4(ROR2):c.1234A>G (p.Ile412Val) | Autosomal recessive Robinow syndrome [RCV000401531]|Brachydactyly type B1 [RCV000302280] | uncertain significance | 9 | 91726693 | 91726693 | Human | 2 | name |
| 405093931 | CV3118861 | single nucleotide variant | NM_004560.4(ROR2):c.2747A>C (p.Glu916Ala) | Brachydactyly type B1 [RCV005040531]|not provided [RCV003811312] | uncertain significance | 9 | 91723747 | 91723747 | Human | 1 | name |
| 405179109 | CV3119735 | single nucleotide variant | NM_004560.4(ROR2):c.1823G>A (p.Ser608Asn) | not provided [RCV003819828] | uncertain significance | 9 | 91724671 | 91724671 | Human | | name |
| 405092656 | CV3122657 | single nucleotide variant | NM_004560.4(ROR2):c.1706C>T (p.Ser569Leu) | not provided [RCV003811222] | uncertain significance | 9 | 91724788 | 91724788 | Human | | name |
| 402522620 | CV3127014 | single nucleotide variant | NM_004560.4(ROR2):c.1261C>G (p.Leu421Val) | not provided [RCV003824932] | benign | 9 | 91726666 | 91726666 | Human | | name |
| 404978420 | CV3127407 | single nucleotide variant | NM_004560.4(ROR2):c.1720G>A (p.Val574Met) | Brachydactyly type B1 [RCV005040539]|not provided [RCV003825631] | uncertain significance | 9 | 91724774 | 91724774 | Human | 1 | name |
| 405122280 | CV3131675 | single nucleotide variant | NM_004560.4(ROR2):c.2806G>A (p.Glu936Lys) | not provided [RCV003837539] | benign | 9 | 91723688 | 91723688 | Human | | name |
| 11601439 | CV313554 | single nucleotide variant | NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe) | Autosomal recessive Robinow syndrome [RCV000335096]|Brachydactyly type B1 [RCV000282386]|not provided [RCV003422376] | uncertain significance | 9 | 91724674 | 91724674 | Human | 2 | name |
| 11599360 | CV313555 | single nucleotide variant | NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) | Autosomal recessive Robinow syndrome [RCV000265108]|Brachydactyly type B1 [RCV000319060]|not provided [RCV000961952] | benign|likely benign | 9 | 91724852 | 91724852 | Human | 2 | name |
| 11604314 | CV313565 | single nucleotide variant | NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) | Autosomal recessive Robinow syndrome [RCV000360660]|Brachydactyly type B1 [RCV000308020]|Brachydactyly type B1 [RCV005049531]|Inborn genetic diseases [RCV002524607]|not provided [RCV002058818] | benign|likely benign|uncertain significance | 9 | 91726620 | 91726620 | Human | 3 | name |
| 405215582 | CV3143280 | single nucleotide variant | NM_004560.4(ROR2):c.1495G>C (p.Glu499Gln) | not provided [RCV003846444] | uncertain significance | 9 | 91724999 | 91724999 | Human | | name |
| 405205727 | CV3144272 | single nucleotide variant | NM_004560.4(ROR2):c.1369A>G (p.Ile457Val) | Brachydactyly type B1 [RCV005051402]|not provided [RCV003845062] | uncertain significance | 9 | 91726558 | 91726558 | Human | 1 | name |
| 405137486 | CV3144714 | single nucleotide variant | NM_004560.4(ROR2):c.1794G>C (p.Gln598His) | not provided [RCV003855231] | uncertain significance | 9 | 91724700 | 91724700 | Human | | name |
| 405194056 | CV3146076 | single nucleotide variant | NM_004560.4(ROR2):c.2731G>A (p.Glu911Lys) | not provided [RCV003843623] | uncertain significance | 9 | 91723763 | 91723763 | Human | | name |
| 405206838 | CV3149302 | single nucleotide variant | NM_004560.4(ROR2):c.2477C>A (p.Pro826Gln) | not provided [RCV003845212] | uncertain significance | 9 | 91724017 | 91724017 | Human | | name |
| 405155628 | CV3159348 | single nucleotide variant | NM_004560.4(ROR2):c.1286G>A (p.Arg429Gln) | not provided [RCV003856613] | uncertain significance | 9 | 91726641 | 91726641 | Human | | name |
| 405185671 | CV3160161 | single nucleotide variant | NM_004560.4(ROR2):c.1802C>G (p.Ala601Gly) | not provided [RCV003859216] | uncertain significance | 9 | 91724692 | 91724692 | Human | | name |
| 405235666 | CV3166309 | single nucleotide variant | NM_004560.4(ROR2):c.1316C>T (p.Pro439Leu) | Brachydactyly type B1 [RCV005040572]|not provided [RCV003853758] | uncertain significance | 9 | 91726611 | 91726611 | Human | 1 | name |
| 402480583 | CV3170581 | single nucleotide variant | NM_004560.4(ROR2):c.1777G>A (p.Val593Met) | Brachydactyly type B1 [RCV005040594]|Inborn genetic diseases [RCV004953614]|not provided [RCV003875783] | uncertain significance | 9 | 91724717 | 91724717 | Human | 2 | name |
| 404999036 | CV3173110 | single nucleotide variant | NM_004560.4(ROR2):c.2350G>A (p.Ala784Thr) | not provided [RCV003882393] | uncertain significance | 9 | 91724144 | 91724144 | Human | | name |
| 405240477 | CV3176747 | single nucleotide variant | NM_004560.4(ROR2):c.2627C>T (p.Thr876Met) | Brachydactyly type B1 [RCV005040589]|not provided [RCV003867185] | uncertain significance | 9 | 91723867 | 91723867 | Human | 1 | name |
| 11602715 | CV319319 | single nucleotide variant | NM_004560.4(ROR2):c.2649G>A (p.Met883Ile) | Autosomal recessive Robinow syndrome [RCV000331525]|Brachydactyly type B1 [RCV000293100]|not provided [RCV001861351] | likely benign|uncertain significance | 9 | 91723845 | 91723845 | Human | 2 | name |
| 11603771 | CV319327 | single nucleotide variant | NM_004560.4(ROR2):c.2314T>A (p.Ser772Thr) | Autosomal recessive Robinow syndrome [RCV000303094]|Brachydactyly type B1 [RCV000397085] | uncertain significance | 9 | 91724180 | 91724180 | Human | 2 | name |
| 11600718 | CV319343 | single nucleotide variant | NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) | Autosomal recessive Robinow syndrome [RCV000276157]|Brachydactyly type B1 [RCV000314957]|Brachydactyly type B1 [RCV005049530]|ROR2-related disorder [RCV004530491]|Short stature [RCV001310262]|not provided [RCV002523819] | benign|likely benign|uncertain significance | 9 | 91724282 | 91724282 | Human | 4 | name , trait , alternate_id |
| 11608217 | CV319934 | single nucleotide variant | NM_004560.4(ROR2):c.1720G>T (p.Val574Leu) | Autosomal recessive Robinow syndrome [RCV000352520]|Brachydactyly type B1 [RCV000400229]|not provided [RCV002523820] | benign|likely benign|uncertain significance | 9 | 91724774 | 91724774 | Human | 2 | name |
| 11605266 | CV319938 | single nucleotide variant | NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) | Autosomal recessive Robinow syndrome [RCV000317822]|Brachydactyly type B1 [RCV000388602]|Brachydactyly type B1 [RCV002481260]|not provided [RCV005243219] | likely benign|uncertain significance | 9 | 91724942 | 91724942 | Human | 2 | name |
| 405718687 | CV3227748 | single nucleotide variant | NM_004560.4(ROR2):c.1086C>G (p.His362Gln) | Autosomal recessive Robinow syndrome [RCV003992089] | uncertain significance | 9 | 91731007 | 91731007 | Human | 1 | name |
| 405718755 | CV3309786 | single nucleotide variant | NM_004560.4(ROR2):c.1362G>A (p.Met454Ile) | Inborn genetic diseases [RCV004449534] | uncertain significance | 9 | 91726565 | 91726565 | Human | 1 | name |
| 405718775 | CV3309788 | single nucleotide variant | NM_004560.4(ROR2):c.1752G>C (p.Lys584Asn) | Inborn genetic diseases [RCV004449536] | uncertain significance | 9 | 91724742 | 91724742 | Human | 1 | name |
| 405718785 | CV3309789 | single nucleotide variant | NM_004560.4(ROR2):c.1763A>T (p.Glu588Val) | Inborn genetic diseases [RCV004449537] | uncertain significance | 9 | 91724731 | 91724731 | Human | 1 | name |
| 405718806 | CV3309791 | single nucleotide variant | NM_004560.4(ROR2):c.2290G>A (p.Ala764Thr) | Brachydactyly type B1 [RCV005051438]|Inborn genetic diseases [RCV004449539] | uncertain significance | 9 | 91724204 | 91724204 | Human | 2 | name |
| 405718810 | CV3309792 | single nucleotide variant | NM_004560.4(ROR2):c.2381C>T (p.Pro794Leu) | Brachydactyly type B1 [RCV005051439]|Inborn genetic diseases [RCV004449540] | uncertain significance | 9 | 91724113 | 91724113 | Human | 2 | name |
| 405718828 | CV3309794 | single nucleotide variant | NM_004560.4(ROR2):c.2447A>G (p.Gln816Arg) | Inborn genetic diseases [RCV004449542] | uncertain significance | 9 | 91724047 | 91724047 | Human | 1 | name |
| 405718835 | CV3309795 | single nucleotide variant | NM_004560.4(ROR2):c.2785T>C (p.Cys929Arg) | Inborn genetic diseases [RCV004449543] | uncertain significance | 9 | 91723709 | 91723709 | Human | 1 | name |
| 405855142 | CV3395740 | single nucleotide variant | NM_004560.4(ROR2):c.2358C>G (p.Tyr786Ter) | Autosomal recessive Robinow syndrome [RCV004556003] | uncertain significance | 9 | 91724136 | 91724136 | Human | 1 | name |
| 407426261 | CV3409795 | single nucleotide variant | NM_004560.4(ROR2):c.1906C>G (p.Leu636Val) | not provided [RCV004585727] | uncertain significance | 9 | 91724588 | 91724588 | Human | | name |
| 408391395 | CV3523174 | single nucleotide variant | NM_004560.4(ROR2):c.1037A>T (p.His346Leu) | not provided [RCV004770546] | uncertain significance | 9 | 91731056 | 91731056 | Human | | name |
| 596930950 | CV3529792 | single nucleotide variant | NM_004560.4(ROR2):c.1415C>T (p.Ala472Val) | not provided [RCV004780842] | uncertain significance | 9 | 91725079 | 91725079 | Human | | name |
| 596941245 | CV3542455 | single nucleotide variant | NM_004560.4(ROR2):c.2027G>A (p.Trp676Ter) | Cleft lip [RCV004797701] | uncertain significance | 9 | 91724467 | 91724467 | Human | 2 | name |
| 596942846 | CV3542685 | single nucleotide variant | NM_004560.4(ROR2):c.2152C>T (p.Pro718Ser) | not provided [RCV004798269] | uncertain significance | 9 | 91724342 | 91724342 | Human | | name |
| 597627570 | CV3586940 | single nucleotide variant | NM_004560.4(ROR2):c.2477C>T (p.Pro826Leu) | Brachydactyly type B1 [RCV005040812]|Inborn genetic diseases [RCV004960268] | uncertain significance | 9 | 91724017 | 91724017 | Human | 2 | name |
| 597719075 | CV3586942 | single nucleotide variant | NM_004560.4(ROR2):c.1588C>T (p.Arg530Trp) | Inborn genetic diseases [RCV004960269] | uncertain significance | 9 | 91724906 | 91724906 | Human | 1 | name |
| 597719085 | CV3586944 | single nucleotide variant | NM_004560.4(ROR2):c.2035G>A (p.Gly679Ser) | Inborn genetic diseases [RCV004960271]|not provided [RCV005061549] | uncertain significance | 9 | 91724459 | 91724459 | Human | 1 | name |
| 597719090 | CV3586945 | single nucleotide variant | NM_004560.4(ROR2):c.1514C>T (p.Ala505Val) | Inborn genetic diseases [RCV004960272] | uncertain significance | 9 | 91724980 | 91724980 | Human | 1 | name |
| 597719097 | CV3586946 | single nucleotide variant | NM_004560.4(ROR2):c.2777T>G (p.Leu926Arg) | Inborn genetic diseases [RCV004960273] | uncertain significance | 9 | 91723717 | 91723717 | Human | 1 | name |
| 597627574 | CV3586947 | single nucleotide variant | NM_004560.4(ROR2):c.2509T>G (p.Phe837Val) | Brachydactyly type B1 [RCV005040813]|Inborn genetic diseases [RCV004960274] | uncertain significance | 9 | 91723985 | 91723985 | Human | 2 | name |
| 597710789 | CV3719658 | single nucleotide variant | NM_004560.4(ROR2):c.2788G>A (p.Asp930Asn) | Brachydactyly type B1 [RCV005048675] | uncertain significance | 9 | 91723706 | 91723706 | Human | 1 | name |
| 597716270 | CV3719659 | single nucleotide variant | NM_004560.4(ROR2):c.2773C>G (p.Leu925Val) | Brachydactyly type B1 [RCV005049210] | uncertain significance | 9 | 91723721 | 91723721 | Human | 1 | name |
| 597710798 | CV3719660 | single nucleotide variant | NM_004560.4(ROR2):c.2688C>G (p.Asp896Glu) | Brachydactyly type B1 [RCV005048676]|not provided [RCV005063344] | uncertain significance | 9 | 91723806 | 91723806 | Human | 1 | name |
| 597716279 | CV3719661 | single nucleotide variant | NM_004560.4(ROR2):c.2410A>G (p.Met804Val) | Brachydactyly type B1 [RCV005049211] | uncertain significance | 9 | 91724084 | 91724084 | Human | 1 | name |
| 597710815 | CV3719662 | single nucleotide variant | NM_004560.4(ROR2):c.2407C>G (p.Pro803Ala) | Brachydactyly type B1 [RCV005048678] | uncertain significance | 9 | 91724087 | 91724087 | Human | 1 | name |
| 597710842 | CV3719664 | single nucleotide variant | NM_004560.4(ROR2):c.2333T>C (p.Val778Ala) | Brachydactyly type B1 [RCV005048681] | uncertain significance | 9 | 91724161 | 91724161 | Human | 1 | name |
| 597710851 | CV3719665 | single nucleotide variant | NM_004560.4(ROR2):c.2312G>A (p.Ser771Asn) | Brachydactyly type B1 [RCV005048682] | uncertain significance | 9 | 91724182 | 91724182 | Human | 1 | name |
| 597710860 | CV3719666 | single nucleotide variant | NM_004560.4(ROR2):c.2249G>T (p.Gly750Val) | Brachydactyly type B1 [RCV005048683] | uncertain significance | 9 | 91724245 | 91724245 | Human | 1 | name |
| 597710868 | CV3719667 | single nucleotide variant | NM_004560.4(ROR2):c.2242G>C (p.Ala748Pro) | Brachydactyly type B1 [RCV005048684] | uncertain significance | 9 | 91724252 | 91724252 | Human | 1 | name |
| 597710877 | CV3719669 | single nucleotide variant | NM_004560.4(ROR2):c.2179G>C (p.Glu727Gln) | Brachydactyly type B1 [RCV005048685] | uncertain significance | 9 | 91724315 | 91724315 | Human | 1 | name |
| 597710884 | CV3719670 | single nucleotide variant | NM_004560.4(ROR2):c.2158T>C (p.Trp720Arg) | Brachydactyly type B1 [RCV005048686] | uncertain significance | 9 | 91724336 | 91724336 | Human | 1 | name |
| 597710892 | CV3719671 | single nucleotide variant | NM_004560.4(ROR2):c.2129T>C (p.Val710Ala) | Brachydactyly type B1 [RCV005048687] | uncertain significance | 9 | 91724365 | 91724365 | Human | 1 | name |
| 597710903 | CV3719672 | single nucleotide variant | NM_004560.4(ROR2):c.2127G>C (p.Gln709His) | Brachydactyly type B1 [RCV005048688] | uncertain significance | 9 | 91724367 | 91724367 | Human | 1 | name |
| 597710911 | CV3719673 | single nucleotide variant | NM_004560.4(ROR2):c.2093A>G (p.Asn698Ser) | Brachydactyly type B1 [RCV005048689] | uncertain significance | 9 | 91724401 | 91724401 | Human | 1 | name |
| 597716290 | CV3719674 | single nucleotide variant | NM_004560.4(ROR2):c.2018C>G (p.Ser673Ter) | Brachydactyly type B1 [RCV005049212] | likely pathogenic | 9 | 91724476 | 91724476 | Human | 1 | name |
| 597710928 | CV3719675 | single nucleotide variant | NM_004560.4(ROR2):c.1994T>C (p.Met665Thr) | Brachydactyly type B1 [RCV005048691] | uncertain significance | 9 | 91724500 | 91724500 | Human | 1 | name |
| 597710937 | CV3719677 | single nucleotide variant | NM_004560.4(ROR2):c.1964C>T (p.Pro655Leu) | Brachydactyly type B1 [RCV005048692] | uncertain significance | 9 | 91724530 | 91724530 | Human | 1 | name |
| 597710955 | CV3719679 | single nucleotide variant | NM_004560.4(ROR2):c.1927G>C (p.Ala643Pro) | Brachydactyly type B1 [RCV005048694] | uncertain significance | 9 | 91724567 | 91724567 | Human | 1 | name |
| 597716299 | CV3719680 | single nucleotide variant | NM_004560.4(ROR2):c.1919T>C (p.Val640Ala) | Brachydactyly type B1 [RCV005049213]|not provided [RCV005105334] | uncertain significance | 9 | 91724575 | 91724575 | Human | 1 | name |
| 597710964 | CV3719681 | single nucleotide variant | NM_004560.4(ROR2):c.1859A>G (p.Asn620Ser) | Brachydactyly type B1 [RCV005048695] | uncertain significance | 9 | 91724635 | 91724635 | Human | 1 | name |
| 597710983 | CV3719685 | single nucleotide variant | NM_004560.4(ROR2):c.1798G>A (p.Ala600Thr) | Brachydactyly type B1 [RCV005048697] | uncertain significance | 9 | 91724696 | 91724696 | Human | 1 | name |
| 597710992 | CV3719686 | single nucleotide variant | NM_004560.4(ROR2):c.1768C>T (p.Pro590Ser) | Brachydactyly type B1 [RCV005048698] | uncertain significance | 9 | 91724726 | 91724726 | Human | 1 | name |
| 597710999 | CV3719687 | single nucleotide variant | NM_004560.4(ROR2):c.1741C>T (p.Arg581Cys) | Brachydactyly type B1 [RCV005048699] | uncertain significance | 9 | 91724753 | 91724753 | Human | 1 | name |
| 597716320 | CV3719688 | single nucleotide variant | NM_004560.4(ROR2):c.1699A>T (p.Met567Leu) | Brachydactyly type B1 [RCV005049215]|not provided [RCV005105335] | uncertain significance | 9 | 91724795 | 91724795 | Human | 1 | name |
| 597711008 | CV3719689 | single nucleotide variant | NM_004560.4(ROR2):c.1624G>T (p.Val542Leu) | Brachydactyly type B1 [RCV005048700] | uncertain significance | 9 | 91724870 | 91724870 | Human | 1 | name |
| 597711019 | CV3719690 | single nucleotide variant | NM_004560.4(ROR2):c.1573G>T (p.Ala525Ser) | Brachydactyly type B1 [RCV005048701] | uncertain significance | 9 | 91724921 | 91724921 | Human | 1 | name |
| 597716328 | CV3719691 | single nucleotide variant | NM_004560.4(ROR2):c.1483C>T (p.Pro495Ser) | Brachydactyly type B1 [RCV005049216] | uncertain significance | 9 | 91725011 | 91725011 | Human | 1 | name |
| 597716338 | CV3719692 | single nucleotide variant | NM_004560.4(ROR2):c.1481G>A (p.Gly494Asp) | Brachydactyly type B1 [RCV005049217] | uncertain significance | 9 | 91725013 | 91725013 | Human | 1 | name |
| 597711027 | CV3719694 | single nucleotide variant | NM_004560.4(ROR2):c.1447C>G (p.Arg483Gly) | Brachydactyly type B1 [RCV005048702] | uncertain significance | 9 | 91725047 | 91725047 | Human | 1 | name |
| 597711038 | CV3719696 | single nucleotide variant | NM_004560.4(ROR2):c.1363C>T (p.Pro455Ser) | Brachydactyly type B1 [RCV005048703] | uncertain significance | 9 | 91726564 | 91726564 | Human | 1 | name |
| 597711044 | CV3719697 | single nucleotide variant | NM_004560.4(ROR2):c.1352A>G (p.Asp451Gly) | Brachydactyly type B1 [RCV005048704] | uncertain significance | 9 | 91726575 | 91726575 | Human | 1 | name |
| 597711054 | CV3719698 | single nucleotide variant | NM_004560.4(ROR2):c.1300G>T (p.Ala434Ser) | Brachydactyly type B1 [RCV005048705] | uncertain significance | 9 | 91726627 | 91726627 | Human | 1 | name |
| 597711064 | CV3719700 | single nucleotide variant | NM_004560.4(ROR2):c.1238C>T (p.Ala413Val) | Brachydactyly type B1 [RCV005048706]|not provided [RCV005105336] | uncertain significance | 9 | 91726689 | 91726689 | Human | 1 | name |
| 597711072 | CV3719701 | single nucleotide variant | NM_004560.4(ROR2):c.1237G>A (p.Ala413Thr) | Brachydactyly type B1 [RCV005048707] | uncertain significance | 9 | 91726690 | 91726690 | Human | 1 | name |
| 597711093 | CV3719703 | single nucleotide variant | NM_004560.4(ROR2):c.1156A>G (p.Met386Val) | Brachydactyly type B1 [RCV005048709] | uncertain significance | 9 | 91730937 | 91730937 | Human | 1 | name |
| 597711102 | CV3719704 | single nucleotide variant | NM_004560.4(ROR2):c.1150G>A (p.Val384Ile) | Brachydactyly type B1 [RCV005048710] | uncertain significance | 9 | 91730943 | 91730943 | Human | 1 | name |
| 597717630 | CV3719706 | single nucleotide variant | NM_004560.4(ROR2):c.1109G>A (p.Gly370Asp) | Brachydactyly type B1 [RCV005049219] | uncertain significance | 9 | 91730984 | 91730984 | Human | 1 | name |
| 597711136 | CV3719709 | single nucleotide variant | NM_004560.4(ROR2):c.1091A>G (p.Tyr364Cys) | Brachydactyly type B1 [RCV005048714] | uncertain significance | 9 | 91731002 | 91731002 | Human | 1 | name |
| 597711146 | CV3719711 | single nucleotide variant | NM_004560.4(ROR2):c.1055G>A (p.Ser352Asn) | Brachydactyly type B1 [RCV005048715] | uncertain significance | 9 | 91731038 | 91731038 | Human | 1 | name |
| 597888309 | CV3739244 | single nucleotide variant | NM_004560.4(ROR2):c.2210C>T (p.Pro737Leu) | not provided [RCV005070791] | uncertain significance | 9 | 91724284 | 91724284 | Human | | name |
| 597850026 | CV3746835 | single nucleotide variant | NM_004560.4(ROR2):c.1802C>T (p.Ala601Val) | not provided [RCV005060462] | uncertain significance | 9 | 91724692 | 91724692 | Human | | name |
| 597876321 | CV3747848 | single nucleotide variant | NM_004560.4(ROR2):c.1522A>G (p.Thr508Ala) | Inborn genetic diseases [RCV005269112]|not provided [RCV005069339] | uncertain significance | 9 | 91724972 | 91724972 | Human | 1 | name |
| 597838696 | CV3758266 | single nucleotide variant | NM_004560.4(ROR2):c.2179G>A (p.Glu727Lys) | not provided [RCV005086101] | uncertain significance | 9 | 91724315 | 91724315 | Human | | name |
| 597865461 | CV3767404 | single nucleotide variant | NM_004560.4(ROR2):c.2641A>G (p.Thr881Ala) | not provided [RCV005106740] | uncertain significance | 9 | 91723853 | 91723853 | Human | | name |
| 597903943 | CV3784437 | single nucleotide variant | NM_004560.4(ROR2):c.1666T>C (p.Cys556Arg) | not provided [RCV005127489] | uncertain significance | 9 | 91724828 | 91724828 | Human | | name |
| 597879023 | CV3786823 | single nucleotide variant | NM_004560.4(ROR2):c.1255G>T (p.Ala419Ser) | not provided [RCV005123899] | uncertain significance | 9 | 91726672 | 91726672 | Human | | name |
| 597952430 | CV3795128 | single nucleotide variant | NM_004560.4(ROR2):c.1501A>G (p.Thr501Ala) | not provided [RCV005136340] | uncertain significance | 9 | 91724993 | 91724993 | Human | | name |
| 597954073 | CV3795693 | single nucleotide variant | NM_004560.4(ROR2):c.1609G>A (p.Val537Ile) | not provided [RCV005136703] | uncertain significance | 9 | 91724885 | 91724885 | Human | | name |
| 597944444 | CV3812496 | single nucleotide variant | NM_004560.4(ROR2):c.1544G>A (p.Gly515Glu) | not provided [RCV005159706] | uncertain significance | 9 | 91724950 | 91724950 | Human | | name |
| 597932171 | CV3827213 | single nucleotide variant | NM_004560.4(ROR2):c.1313C>T (p.Thr438Ile) | not provided [RCV005157226] | uncertain significance | 9 | 91726614 | 91726614 | Human | | name |
| 597845080 | CV3827566 | single nucleotide variant | NM_004560.4(ROR2):c.2402T>G (p.Phe801Cys) | not provided [RCV005172837] | uncertain significance | 9 | 91724092 | 91724092 | Human | | name |
| 597834358 | CV3827807 | single nucleotide variant | NM_004560.4(ROR2):c.1037A>G (p.His346Arg) | not provided [RCV005170897] | uncertain significance | 9 | 91731056 | 91731056 | Human | | name |
| 597970362 | CV3832448 | single nucleotide variant | NM_004560.4(ROR2):c.1034C>T (p.Pro345Leu) | not provided [RCV005166527] | uncertain significance | 9 | 91731059 | 91731059 | Human | | name |
| 597970468 | CV3832492 | single nucleotide variant | NM_004560.4(ROR2):c.1995G>A (p.Met665Ile) | not provided [RCV005166571] | uncertain significance | 9 | 91724499 | 91724499 | Human | | name |
| 597971681 | CV3833144 | single nucleotide variant | NM_004560.4(ROR2):c.2204G>T (p.Arg735Leu) | not provided [RCV005167041] | uncertain significance | 9 | 91724290 | 91724290 | Human | | name |
| 597954472 | CV3844428 | single nucleotide variant | NM_004560.4(ROR2):c.1578G>T (p.Met526Ile) | not provided [RCV005191101] | uncertain significance | 9 | 91724916 | 91724916 | Human | | name |
| 597898497 | CV3854463 | single nucleotide variant | NM_004560.4(ROR2):c.1357G>T (p.Glu453Ter) | not provided [RCV005201570] | pathogenic | 9 | 91726570 | 91726570 | Human | | name |
| 597936123 | CV3863712 | single nucleotide variant | NM_004560.4(ROR2):c.1613G>T (p.Cys538Phe) | not provided [RCV005207525] | uncertain significance | 9 | 91724881 | 91724881 | Human | | name |
| 598207355 | CV3906120 | single nucleotide variant | NM_004560.4(ROR2):c.2543C>T (p.Pro848Leu) | Inborn genetic diseases [RCV005270030] | uncertain significance | 9 | 91723951 | 91723951 | Human | 1 | name |
| 598219662 | CV3906122 | single nucleotide variant | NM_004560.4(ROR2):c.1702C>T (p.Arg568Cys) | Inborn genetic diseases [RCV005272105] | uncertain significance | 9 | 91724792 | 91724792 | Human | 1 | name |
| 598219657 | CV3906123 | single nucleotide variant | NM_004560.4(ROR2):c.1999G>A (p.Gly667Ser) | Inborn genetic diseases [RCV005272106] | uncertain significance | 9 | 91724495 | 91724495 | Human | 1 | name |
| 598219653 | CV3906124 | single nucleotide variant | NM_004560.4(ROR2):c.2702C>T (p.Pro901Leu) | Inborn genetic diseases [RCV005272107] | uncertain significance | 9 | 91723792 | 91723792 | Human | 1 | name |
| 13490002 | CV444526 | single nucleotide variant | NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg) | Brachydactyly type B1 [RCV002490926]|not provided [RCV000524072] | uncertain significance | 9 | 91730988 | 91730988 | Human | 1 | name |
| 13522764 | CV491325 | single nucleotide variant | NM_004560.4(ROR2):c.1490C>T (p.Pro497Leu) | Brachydactyly type B1 [RCV002497269]|not provided [RCV000592155] | uncertain significance | 9 | 91725004 | 91725004 | Human | 1 | name |
| 13518865 | CV491333 | single nucleotide variant | NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) | Autosomal recessive Robinow syndrome [RCV001168499]|Brachydactyly type B1 [RCV001168500]|Inborn genetic diseases [RCV002532489]|not provided [RCV000597656]|not specified [RCV005418232] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724911 | 91724911 | Human | 3 | name |
| 13519509 | CV491703 | single nucleotide variant | NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) | ROR2-related disorder [RCV004543363]|not provided [RCV000597971] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724033 | 91724033 | Human | 1 | name , trait , alternate_id |
| 13705322 | CV536352 | single nucleotide variant | NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter) | Autosomal recessive Robinow syndrome [RCV002226720]|not provided [RCV000657780] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724255 | 91724255 | Human | 1 | name |
| 13705489 | CV536780 | single nucleotide variant | NM_004560.4(ROR2):c.1868T>C (p.Val623Ala) | not provided [RCV000658037] | likely pathogenic | 9 | 91724626 | 91724626 | Human | | name |
| 13706433 | CV537533 | single nucleotide variant | NM_004560.4(ROR2):c.1322G>A (p.Arg441Gln) | Brachydactyly type B1 [RCV002485502]|Inborn genetic diseases [RCV003243244]|not provided [RCV000659116] | uncertain significance | 9 | 91726605 | 91726605 | Human | 2 | name |
| 13831628 | CV582125 | single nucleotide variant | NM_004560.4(ROR2):c.1400A>G (p.Glu467Gly) | not provided [RCV000722307] | uncertain significance | 9 | 91725094 | 91725094 | Human | | name |
| 13832102 | CV582593 | single nucleotide variant | NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe) | Brachydactyly type B1 [RCV002493298]|not provided [RCV000722785] | uncertain significance | 9 | 91725082 | 91725082 | Human | 1 | name |
| 13832834 | CV584058 | single nucleotide variant | NM_004560.4(ROR2):c.1940A>G (p.Lys647Arg) | Brachydactyly type B1 [RCV002499339]|Inborn genetic diseases [RCV003279032]|not provided [RCV000727912] | uncertain significance | 9 | 91724554 | 91724554 | Human | 2 | name |
| 13835318 | CV586575 | single nucleotide variant | NM_004560.4(ROR2):c.1966A>G (p.Ile656Val) | Brachydactyly type B1 [RCV005046989]|not provided [RCV000731077] | uncertain significance | 9 | 91724528 | 91724528 | Human | 1 | name |
| 13836512 | CV587787 | single nucleotide variant | NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) | Brachydactyly type B1 [RCV005047000]|Fetal akinesia deformation sequence 1 [RCV000855500]|Short stature [RCV001310261]|not provided [RCV000903196]|not specified [RCV000732649] | likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 9 | 91724819 | 91724819 | Human | 6 | name |
| 13837552 | CV588842 | single nucleotide variant | NM_004560.4(ROR2):c.2582C>T (p.Ser861Leu) | not provided [RCV000734005] | uncertain significance | 9 | 91723912 | 91723912 | Human | | name |
| 15201704 | CV723654 | single nucleotide variant | NM_004560.4(ROR2):c.2620G>A (p.Val874Ile) | not provided [RCV000891267] | benign | 9 | 91723874 | 91723874 | Human | | name |
| 15197169 | CV723656 | single nucleotide variant | NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu) | Brachydactyly type B1 [RCV005047143]|Inborn genetic diseases [RCV005268803]|not provided [RCV000889980]|not specified [RCV001818658] | likely benign|uncertain significance | 9 | 91724050 | 91724050 | Human | 2 | name |
| 15169632 | CV737230 | single nucleotide variant | NM_004560.4(ROR2):c.2109G>T (p.Glu703Asp) | not provided [RCV000905098] | benign | 9 | 91724385 | 91724385 | Human | | name |
| 15103904 | CV751811 | single nucleotide variant | NM_004560.4(ROR2):c.2399A>C (p.Gln800Pro) | not provided [RCV000915253] | benign | 9 | 91724095 | 91724095 | Human | | name |
| 25318593 | CV805624 | duplication | NM_004560.4(ROR2):c.2264dup (p.Tyr755Ter) | not provided [RCV001008721] | likely pathogenic | 9 | 91724229 | 91724230 | Human | | name |
| 26918722 | CV836283 | single nucleotide variant | NM_004560.4(ROR2):c.2550G>C (p.Gln850His) | Inborn genetic diseases [RCV004031346]|not provided [RCV001044130] | uncertain significance | 9 | 91723944 | 91723944 | Human | 1 | name |
| 26889669 | CV836284 | single nucleotide variant | NM_004560.4(ROR2):c.1154G>A (p.Arg385His) | Brachydactyly type B1 [RCV002489654]|not provided [RCV001058431] | uncertain significance | 9 | 91730939 | 91730939 | Human | 1 | name |
| 8633434 | CV88649 | single nucleotide variant | NM_004560.3(ROR2):c.2377G>T (p.Ala793Ser) | Malignant melanoma [RCV000068742] | not provided | 9 | 91724117 | 91724117 | Human | | name |
| 28876470 | CV902476 | single nucleotide variant | NM_004560.4(ROR2):c.2782G>A (p.Asp928Asn) | Autosomal recessive Robinow syndrome [RCV001166155]|Brachydactyly type B1 [RCV001166154] | uncertain significance | 9 | 91723712 | 91723712 | Human | 2 | name |
| 28878090 | CV902477 | single nucleotide variant | NM_004560.4(ROR2):c.2458C>G (p.Pro820Ala) | Autosomal recessive Robinow syndrome [RCV001166643]|Brachydactyly type B1 [RCV001166642] | uncertain significance | 9 | 91724036 | 91724036 | Human | 2 | name |
| 28886713 | CV902479 | single nucleotide variant | NM_004560.4(ROR2):c.2242G>T (p.Ala748Ser) | Autosomal recessive Robinow syndrome [RCV001169141]|Brachydactyly type B1 [RCV001169140] | uncertain significance | 9 | 91724252 | 91724252 | Human | 2 | name |
| 28878324 | CV902482 | single nucleotide variant | NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) | Autosomal recessive Robinow syndrome [RCV001166717]|Brachydactyly type B1 [RCV001166716] | benign|uncertain significance | 9 | 91724499 | 91724499 | Human | 2 | name |
| 28884262 | CV902484 | single nucleotide variant | NM_004560.4(ROR2):c.1870T>A (p.Tyr624Asn) | Autosomal recessive Robinow syndrome [RCV001168442]|Brachydactyly type B1 [RCV001168443] | uncertain significance | 9 | 91724624 | 91724624 | Human | 2 | name |
| 28887055 | CV902488 | single nucleotide variant | NM_004560.4(ROR2):c.1347C>G (p.Ser449Arg) | Autosomal recessive Robinow syndrome [RCV001169237]|Brachydactyly type B1 [RCV001169236] | uncertain significance | 9 | 91726580 | 91726580 | Human | 2 | name |
| 28877020 | CV902490 | single nucleotide variant | NM_004560.4(ROR2):c.1300G>A (p.Ala434Thr) | Autosomal recessive Robinow syndrome [RCV001166323]|Brachydactyly type B1 [RCV001166322]|Brachydactyly type B1 [RCV005039988]|not provided [RCV005093694] | uncertain significance | 9 | 91726627 | 91726627 | Human | 2 | name |
| 28877022 | CV902491 | single nucleotide variant | NM_004560.4(ROR2):c.1279A>G (p.Met427Val) | Autosomal recessive Robinow syndrome [RCV001166325]|Brachydactyly type B1 [RCV001166324]|not provided [RCV001859078] | uncertain significance | 9 | 91726648 | 91726648 | Human | 2 | name |
| 28878771 | CV902492 | single nucleotide variant | NM_004560.4(ROR2):c.1103C>G (p.Pro368Arg) | Autosomal recessive Robinow syndrome [RCV001166840]|Brachydactyly type B1 [RCV001166839]|not provided [RCV005056976] | uncertain significance | 9 | 91730990 | 91730990 | Human | 2 | name |
| 126909914 | CV971519 | single nucleotide variant | NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) | Autosomal recessive Robinow syndrome [RCV001353140] | likely pathogenic | 9 | 91724279 | 91724279 | Human | 1 | name |
| 126909913 | CV971520 | single nucleotide variant | NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) | Autosomal recessive Robinow syndrome [RCV001353139]|not provided [RCV005057179] | likely pathogenic|uncertain significance | 9 | 91724287 | 91724287 | Human | 1 | name |
| 126909911 | CV971521 | single nucleotide variant | NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) | Autosomal recessive Robinow syndrome [RCV001353138] | likely pathogenic | 9 | 91724420 | 91724420 | Human | 1 | name |
| 126909910 | CV971522 | single nucleotide variant | NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) | Autosomal recessive Robinow syndrome [RCV001353136] | likely pathogenic | 9 | 91724639 | 91724639 | Human | 1 | name |
| 126909909 | CV971523 | single nucleotide variant | NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) | Autosomal recessive Robinow syndrome [RCV001353135] | likely pathogenic | 9 | 91724978 | 91724978 | Human | 1 | name |
| 126909894 | CV971524 | single nucleotide variant | NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) | Autosomal recessive Robinow syndrome [RCV001353124]|Brachydactyly type B1 [RCV003314001]|not provided [RCV003433099] | pathogenic | 9 | 91726738 | 91726738 | Human | 2 | name |
| 126909893 | CV971525 | single nucleotide variant | NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) | Autosomal recessive Robinow syndrome [RCV001353123] | likely pathogenic | 9 | 91730993 | 91730993 | Human | 1 | name |
| 126909907 | CV971526 | single nucleotide variant | NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) | Autosomal recessive Robinow syndrome [RCV001353134]|Brachydactyly type B1 [RCV002499451] | likely pathogenic | 9 | 91730997 | 91730997 | Human | 2 | name |
| 126756148 | CV993531 | single nucleotide variant | NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp) | Brachydactyly type B1 [RCV002486145]|Inborn genetic diseases [RCV002541867]|not provided [RCV001298507] | uncertain significance | 9 | 91724288 | 91724288 | Human | 2 | name |
| 13520555 | CV495438 | duplication | NM_004560.4(ROR2):c.566_569dup (p.Ile191fs) | not provided [RCV000598728] | pathogenic | 9 | 91737443 | 91737444 | Human | | name |
| 151809106 | CV1384104 | microsatellite | NM_004560.4(ROR2):c.2555CTC[1] (p.Pro853del) | not provided [RCV001878080] | uncertain significance | 9 | 91723934 | 91723936 | Human | | name |
| 150404458 | CV1178828 | deletion | NM_004560.4(ROR2):c.1353_1360del (p.Met452fs) | Autosomal recessive Robinow syndrome [RCV001548753] | pathogenic | 9 | 91726567 | 91726574 | Human | 1 | name |
| 156416745 | CV1898072 | microsatellite | NM_004560.4(ROR2):c.2794_2795del (p.Leu932fs) | Brachydactyly type B1 [RCV005045311]|not provided [RCV002610340] | uncertain significance | 9 | 91723699 | 91723700 | Human | | name |
| 8559825 | CV22350 | deletion | NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) | Brachydactyly type B1 [RCV000007734]|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals [RCV000007735] | pathogenic | 9 | 91726602 | 91726606 | Human | 2 | name |
| 8559826 | CV22352 | deletion | NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs) | Autosomal recessive Robinow syndrome [RCV000007737] | pathogenic | 9 | 91724551 | 91724557 | Human | 1 | name |
| 596928533 | CV3541527 | deletion | NM_004560.4(ROR2):c.1397_1398del (p.Lys466fs) | Brachydactyly type B1 [RCV004797399] | likely pathogenic | 9 | 91725096 | 91725097 | Human | 1 | name |
| 151836879 | CV1467959 | insertion | NM_004560.4(ROR2):c.1399_1400insT (p.Glu467fs) | not provided [RCV001956272] | pathogenic | 9 | 91725094 | 91725095 | Human | | name |
| 405181285 | CV2914138 | deletion | NM_004560.4(ROR2):c.1603_1605del (p.Asn535del) | not provided [RCV003563993] | uncertain significance | 9 | 91724889 | 91724891 | Human | | name |
| 151823961 | CV1350760 | indel | NM_004560.4(ROR2):c.769_770delinsTT (p.Glu257Leu) | not provided [RCV001919846] | uncertain significance | 9 | 91733289 | 91733290 | Human | | name |
| 15040405 | CV615893 | indel | NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) | Autosomal recessive Robinow syndrome [RCV000855448] | likely pathogenic | 9 | 91724925 | 91724929 | Human | | name |
| 151751609 | CV1407035 | duplication | NM_004560.4(ROR2):c.1639_1677dup (p.Gln547_Gly559dup) | not provided [RCV002023433] | uncertain significance | 9 | 91724816 | 91724817 | Human | | name |
| 151722045 | CV1489674 | deletion | NM_004560.4(ROR2):c.2443_2517del (p.Pro815_Pro839del) | not provided [RCV001891249] | uncertain significance | 9 | 91723977 | 91724051 | Human | | name |
| 597972334 | CV3790243 | deletion | NM_004560.4(ROR2):c.2448_2453del (p.Gln816_Tyr818delinsHis) | not provided [RCV005142666] | uncertain significance | 9 | 91724041 | 91724046 | Human | | name |
| 597711173 | CV3719715 | indel | NM_004560.4(ROR2):c.873_874delinsTT (p.Met291_Pro292delinsIleSer) | Brachydactyly type B1 [RCV005048718] | uncertain significance | 9 | 91733185 | 91733186 | Human | | name |
| 11634323 | CV266826 | duplication | NM_004560.4(ROR2):c.2130_2151dup (p.Pro718delinsAlaAlaLeuProArgTer) | not provided [RCV000395342] | pathogenic | 9 | 91724342 | 91724343 | Human | | name |