| 150468282 | CV1241874 | single nucleotide variant | NM_134261.3(RORA):c.821-1G>C | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001650476] | likely pathogenic | 15 | 60505630 | 60505630 | Human | 1 | name |
| 401720386 | CV2737232 | single nucleotide variant | NM_134261.3(RORA):c.424+1G>A | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003314171] | pathogenic | 15 | 60514615 | 60514615 | Human | 1 | name |
| 401723501 | CV2737839 | single nucleotide variant | NM_134261.3(RORA):c.166+3A>G | not provided [RCV003315011] | uncertain significance | 15 | 61229050 | 61229050 | Human | | name |
| 401930073 | CV2814175 | single nucleotide variant | NM_134261.3(RORA):c.283-8T>C | not provided [RCV003390505] | likely benign | 15 | 60514765 | 60514765 | Human | | name |
| 408381722 | CV3526579 | single nucleotide variant | NM_134261.3(RORA):c.424+4A>C | not provided [RCV004771892] | uncertain significance | 15 | 60514612 | 60514612 | Human | | name |
| 597716959 | CV3733306 | single nucleotide variant | NM_134261.3(RORA):c.283-2A>G | not provided [RCV005052496] | pathogenic | 15 | 60514759 | 60514759 | Human | | name |
| 126728502 | CV1017936 | single nucleotide variant | NM_134261.3(RORA):c.197-11T>C | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001332869] | uncertain significance | 15 | 60531862 | 60531862 | Human | 1 | name |
| 153301248 | CV1689096 | single nucleotide variant | NM_134261.3(RORA):c.1183+8G>T | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002266824] | uncertain significance | 15 | 60502752 | 60502752 | Human | 1 | name |
| 127261677 | CV1087380 | single nucleotide variant | NM_134261.3(RORA):c.167-69528A>G | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001420577] | uncertain significance | 15 | 60748214 | 60748214 | Human | 1 | name |
| 8584507 | CV119080 | single nucleotide variant | NM_134261.2(RORA):c.196+56381T>C | Lung cancer [RCV000099600] | uncertain significance | 15 | 60622276 | 60622276 | Human | | name |
| 152043811 | CV1669005 | single nucleotide variant | NM_134261.3(RORA):c.197-26447T>C | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002223348] | uncertain significance | 15 | 60558298 | 60558298 | Human | 1 | name |
| 153301219 | CV1689067 | single nucleotide variant | NM_134261.3(RORA):c.166+91672A>G | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002266795] | uncertain significance | 15 | 61137381 | 61137381 | Human | 1 | name |
| 155267369 | CV1699577 | single nucleotide variant | NM_134261.3(RORA):c.196+51343A>G | Inborn genetic diseases [RCV003101623]|not specified [RCV002283370] | likely benign|uncertain significance | 15 | 60627314 | 60627314 | Human | 1 | name |
| 155927220 | CV2230752 | single nucleotide variant | NM_134261.3(RORA):c.196+51412G>T | Inborn genetic diseases [RCV002728254]|not provided [RCV004598243] | likely benign|uncertain significance | 15 | 60627245 | 60627245 | Human | 1 | name |
| 156150415 | CV2268878 | single nucleotide variant | NM_134261.3(RORA):c.197-26458C>T | Inborn genetic diseases [RCV002826746] | uncertain significance | 15 | 60558309 | 60558309 | Human | 1 | name |
| 156038217 | CV2332611 | single nucleotide variant | NM_134261.3(RORA):c.196+51356G>T | Inborn genetic diseases [RCV002977016] | likely benign|uncertain significance | 15 | 60627301 | 60627301 | Human | 1 | name |
| 155909615 | CV2359863 | single nucleotide variant | NM_134261.3(RORA):c.197-26379G>A | Inborn genetic diseases [RCV002991053]|not provided [RCV003883937] | likely benign | 15 | 60558230 | 60558230 | Human | 1 | name |
| 156348148 | CV2383050 | single nucleotide variant | NM_134261.3(RORA):c.197-26403G>T | Inborn genetic diseases [RCV002675294] | likely benign | 15 | 60558254 | 60558254 | Human | 1 | name |
| 243056736 | CV2418917 | single nucleotide variant | NM_134261.3(RORA):c.196+51339G>A | not specified [RCV003155885] | uncertain significance | 15 | 60627318 | 60627318 | Human | | name |
| 401875854 | CV2750114 | single nucleotide variant | NM_134261.3(RORA):c.196+51284T>A | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003333548] | uncertain significance | 15 | 60627373 | 60627373 | Human | 1 | name |
| 401904355 | CV2814176 | single nucleotide variant | NM_134261.3(RORA):c.197-26453A>G | not provided [RCV003394889] | uncertain significance | 15 | 60558304 | 60558304 | Human | | name |
| 401904358 | CV2814177 | single nucleotide variant | NM_134261.3(RORA):c.197-26462G>A | not provided [RCV003394890] | likely benign | 15 | 60558313 | 60558313 | Human | | name |
| 401916341 | CV2814178 | single nucleotide variant | NM_134261.3(RORA):c.196+51362G>A | not provided [RCV003400947] | likely benign | 15 | 60627295 | 60627295 | Human | | name |
| 405287549 | CV3205720 | single nucleotide variant | NM_134261.3(RORA):c.197-25064A>G | RORA-related disorder [RCV003959835] | likely benign | 15 | 60556915 | 60556915 | Human | | name , trait , alternate_id |
| 405271669 | CV3206216 | single nucleotide variant | NM_134261.3(RORA):c.197-26447T>A | RORA-related disorder [RCV003971869]|not provided [RCV004573444] | likely benign | 15 | 60558298 | 60558298 | Human | 1 | name , trait , alternate_id |
| 405718881 | CV3309800 | single nucleotide variant | NM_134261.3(RORA):c.197-25050C>G | Inborn genetic diseases [RCV004449548] | uncertain significance | 15 | 60556901 | 60556901 | Human | 1 | name |
| 405718899 | CV3309802 | single nucleotide variant | NM_134261.3(RORA):c.196+51380T>C | Inborn genetic diseases [RCV004449550] | uncertain significance | 15 | 60627277 | 60627277 | Human | 1 | name |
| 405852901 | CV3393329 | single nucleotide variant | NM_134261.3(RORA):c.196+63756G>A | not provided [RCV004546059] | likely benign | 15 | 60614901 | 60614901 | Human | | name |
| 405873120 | CV3398408 | single nucleotide variant | NM_134261.3(RORA):c.196+63654C>T | not provided [RCV004575904] | likely benign | 15 | 60615003 | 60615003 | Human | | name |
| 408383173 | CV3504764 | single nucleotide variant | NM_134261.3(RORA):c.197-26463C>G | RORA-related disorder [RCV004730423] | uncertain significance | 15 | 60558314 | 60558314 | Human | | name , trait , alternate_id |
| 596921094 | CV3534711 | single nucleotide variant | NM_134261.3(RORA):c.196+51420G>A | not provided [RCV004784268] | uncertain significance | 15 | 60627237 | 60627237 | Human | | name |
| 597719144 | CV3586956 | single nucleotide variant | NM_134261.3(RORA):c.196+51286A>C | Inborn genetic diseases [RCV004960282] | uncertain significance | 15 | 60627371 | 60627371 | Human | 1 | name |
| 598127403 | CV3888174 | single nucleotide variant | NM_134261.3(RORA):c.196+63645C>T | not provided [RCV005242860] | likely benign | 15 | 60615012 | 60615012 | Human | | name |
| 598217585 | CV3891493 | single nucleotide variant | NM_134261.3(RORA):c.196+51421T>A | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV005252335] | likely pathogenic | 15 | 60627236 | 60627236 | Human | 1 | name |
| 598235964 | CV3893514 | single nucleotide variant | NM_134261.3(RORA):c.196+51371A>G | not provided [RCV005256247] | uncertain significance | 15 | 60627286 | 60627286 | Human | | name |
| 598219633 | CV3906128 | single nucleotide variant | NM_134261.3(RORA):c.196+51347T>G | Inborn genetic diseases [RCV005272111] | uncertain significance | 15 | 60627310 | 60627310 | Human | 1 | name |
| 598219627 | CV3906129 | single nucleotide variant | NM_134261.3(RORA):c.197-26384C>G | Inborn genetic diseases [RCV005272112] | uncertain significance | 15 | 60558235 | 60558235 | Human | 1 | name |
| 598176886 | CV4008204 | single nucleotide variant | NM_134261.3(RORA):c.197-26402G>A | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV005393720] | uncertain significance | 15 | 60558253 | 60558253 | Human | 1 | name |
| 15117144 | CV770253 | single nucleotide variant | NM_134261.3(RORA):c.197-26380C>T | not provided [RCV000939784] | likely benign | 15 | 60558231 | 60558231 | Human | | name |
| 15111819 | CV770254 | single nucleotide variant | NM_134261.3(RORA):c.197-26401T>G | not provided [RCV000938823] | likely benign | 15 | 60558252 | 60558252 | Human | | name |
| 15118426 | CV779813 | single nucleotide variant | NM_134261.3(RORA):c.196+51424G>A | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001262870]|not provided [RCV000962377] | benign|likely benign | 15 | 60627233 | 60627233 | Human | 1 | name |
| 8584508 | CV119081 | single nucleotide variant | NM_134261.2(RORA):c.167-231789G>A | Lung cancer [RCV000099601] | uncertain significance | 15 | 60910475 | 60910475 | Human | | name |
| 153349170 | CV1694015 | single nucleotide variant | NM_134261.3(RORA):c.167-186181C>T | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002275562] | uncertain significance | 15 | 60864867 | 60864867 | Human | 1 | name |
| 401904360 | CV2814179 | single nucleotide variant | NM_134261.3(RORA):c.166+191459C>T | not provided [RCV003394891] | likely benign | 15 | 61037594 | 61037594 | Human | | name |
| 150528772 | CV1288489 | single nucleotide variant | NM_134261.3(RORA):c.90G>A (p.Pro30=) | RORA-related disorder [RCV003956341]|not provided [RCV001726957] | likely benign | 15 | 61229129 | 61229129 | Human | 1 | name , trait , alternate_id |
| 243056739 | CV2418918 | single nucleotide variant | NM_134261.3(RORA):c.57C>A (p.Gly19=) | not specified [RCV003155886] | likely benign | 15 | 61229162 | 61229162 | Human | | name |
| 405853976 | CV3393727 | single nucleotide variant | NM_134261.3(RORA):c.66G>A (p.Ala22=) | not provided [RCV004546953] | likely benign | 15 | 61229153 | 61229153 | Human | | name |
| 150528771 | CV1288488 | single nucleotide variant | NM_134261.3(RORA):c.132G>C (p.Pro44=) | not provided [RCV001726956] | likely benign | 15 | 61229087 | 61229087 | Human | | name |
| 243060224 | CV2413777 | single nucleotide variant | NM_134261.3(RORA):c.19G>T (p.Ala7Ser) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003135789] | uncertain significance | 15 | 61229200 | 61229200 | Human | 1 | name |
| 401797887 | CV2739126 | single nucleotide variant | NM_134261.3(RORA):c.22C>A (p.Pro8Thr) | not provided [RCV003318773] | uncertain significance | 15 | 61229197 | 61229197 | Human | | name |
| 405718872 | CV3309799 | single nucleotide variant | NM_134261.3(RORA):c.20C>T (p.Ala7Val) | Inborn genetic diseases [RCV004449547] | uncertain significance | 15 | 61229199 | 61229199 | Human | 1 | name |
| 14702843 | CV626241 | single nucleotide variant | NM_134261.3(RORA):c.17C>T (p.Ala6Val) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000791211] | uncertain significance | 15 | 61229202 | 61229202 | Human | 1 | name |
| 15200269 | CV703268 | variation | NM_134261.3(RORA):c.1428= (p.Thr476=) | not provided [RCV000957281] | benign | 15 | 60497599 | 60497599 | Human | | name |
| 150460144 | CV1264127 | single nucleotide variant | NM_134261.3(RORA):c.504G>A (p.Gln168=) | not provided [RCV001682042] | benign | 15 | 60511542 | 60511542 | Human | | name |
| 153301018 | CV1688858 | single nucleotide variant | NM_134261.3(RORA):c.32C>T (p.Ala11Val) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002266586] | uncertain significance | 15 | 61229187 | 61229187 | Human | 1 | name |
| 156345195 | CV2382117 | single nucleotide variant | NM_134261.3(RORA):c.82G>A (p.Glu28Lys) | Inborn genetic diseases [RCV002719624] | uncertain significance | 15 | 61229137 | 61229137 | Human | 1 | name |
| 243060226 | CV2413780 | single nucleotide variant | NM_134261.3(RORA):c.56G>C (p.Gly19Ala) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003135791] | uncertain significance | 15 | 61229163 | 61229163 | Human | 1 | name |
| 401904347 | CV2814170 | single nucleotide variant | NM_134261.3(RORA):c.774G>A (p.Ser258=) | not provided [RCV003394884] | likely benign | 15 | 60511272 | 60511272 | Human | | name |
| 401904348 | CV2814171 | single nucleotide variant | NM_134261.3(RORA):c.750A>G (p.Ala250=) | not provided [RCV003394885] | likely benign | 15 | 60511296 | 60511296 | Human | | name |
| 401904350 | CV2814172 | single nucleotide variant | NM_134261.3(RORA):c.651C>T (p.Ala217=) | not provided [RCV003394886] | likely benign | 15 | 60511395 | 60511395 | Human | | name |
| 401904353 | CV2814174 | single nucleotide variant | NM_134261.3(RORA):c.573C>T (p.Asn191=) | not provided [RCV003394888] | likely benign | 15 | 60511473 | 60511473 | Human | | name |
| 405295107 | CV3211008 | single nucleotide variant | NM_134261.3(RORA):c.466T>C (p.Leu156=) | RORA-related disorder [RCV003937011] | likely benign | 15 | 60511580 | 60511580 | Human | | name , trait , alternate_id |
| 405718888 | CV3309801 | single nucleotide variant | NM_134261.3(RORA):c.68C>A (p.Ala23Asp) | Inborn genetic diseases [RCV004449549] | uncertain significance | 15 | 61229151 | 61229151 | Human | 1 | name |
| 407487206 | CV3479899 | single nucleotide variant | NM_134261.3(RORA):c.61G>A (p.Asp21Asn) | Inborn genetic diseases [RCV004665621] | uncertain significance | 15 | 61229158 | 61229158 | Human | 1 | name |
| 596929220 | CV3540869 | single nucleotide variant | NM_134261.3(RORA):c.43C>G (p.Pro15Ala) | not provided [RCV004795198] | uncertain significance | 15 | 61229176 | 61229176 | Human | | name |
| 597719108 | CV3586950 | single nucleotide variant | NM_134261.3(RORA):c.62A>G (p.Asp21Gly) | Inborn genetic diseases [RCV004960276] | likely benign | 15 | 61229157 | 61229157 | Human | 1 | name |
| 597719114 | CV3586951 | single nucleotide variant | NM_134261.3(RORA):c.63C>G (p.Asp21Glu) | Inborn genetic diseases [RCV004960277] | uncertain significance | 15 | 61229156 | 61229156 | Human | 1 | name |
| 598122430 | CV3884392 | single nucleotide variant | NM_134261.3(RORA):c.40G>A (p.Glu14Lys) | not specified [RCV005237084] | uncertain significance | 15 | 61229179 | 61229179 | Human | | name |
| 617151574 | CV4021795 | single nucleotide variant | NM_134261.3(RORA):c.70G>A (p.Ala24Thr) | not provided [RCV005426756] | uncertain significance | 15 | 61229149 | 61229149 | Human | | name |
| 15200319 | CV703269 | single nucleotide variant | NM_134261.3(RORA):c.783C>T (p.Asn261=) | RORA-related disorder [RCV003926059]|not provided [RCV000957296] | benign | 15 | 60511263 | 60511263 | Human | 1 | name , trait , alternate_id |
| 15171270 | CV703270 | single nucleotide variant | NM_134261.3(RORA):c.648C>T (p.Ser216=) | not provided [RCV000949801] | likely benign | 15 | 60511398 | 60511398 | Human | | name |
| 15127966 | CV714514 | single nucleotide variant | NM_134261.3(RORA):c.987A>G (p.Glu329=) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002479117]|not provided [RCV000964000] | benign|likely benign | 15 | 60503623 | 60503623 | Human | 1 | name |
| 15186538 | CV726156 | single nucleotide variant | NM_134261.3(RORA):c.615C>T (p.Asp205=) | RORA-related disorder [RCV003930684]|not provided [RCV000887003] | benign | 15 | 60511431 | 60511431 | Human | 1 | name , trait , alternate_id |
| 126728499 | CV1017937 | single nucleotide variant | NM_134261.3(RORA):c.140G>C (p.Arg47Thr) | Inborn genetic diseases [RCV002546602]|Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001332868] | uncertain significance | 15 | 61229079 | 61229079 | Human | 2 | name |
| 150549269 | CV1295065 | single nucleotide variant | NM_134261.3(RORA):c.230G>T (p.Gly77Val) | not provided [RCV001765026] | uncertain significance | 15 | 60531818 | 60531818 | Human | | name |
| 150552231 | CV1301169 | single nucleotide variant | NM_134261.3(RORA):c.130C>G (p.Pro44Ala) | not provided [RCV001767579] | uncertain significance | 15 | 61229089 | 61229089 | Human | | name |
| 151235316 | CV1318585 | single nucleotide variant | NM_134261.3(RORA):c.1428C>A (p.Thr476=) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001794913]|not provided [RCV004716825] | benign | 15 | 60497599 | 60497599 | Human | 1 | name |
| 152080454 | CV1666962 | single nucleotide variant | NM_134261.3(RORA):c.1395A>T (p.Gly465=) | RORA-related disorder [RCV003971193]|not provided [RCV002211307] | likely benign | 15 | 60499904 | 60499904 | Human | 1 | name , trait , alternate_id |
| 152154847 | CV1667989 | single nucleotide variant | NM_134261.3(RORA):c.284G>A (p.Gly95Asp) | not provided [RCV002221883] | uncertain significance | 15 | 60514756 | 60514756 | Human | | name |
| 155643451 | CV1707851 | single nucleotide variant | NM_134261.3(RORA):c.215C>T (p.Pro72Leu) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002289312] | uncertain significance | 15 | 60531833 | 60531833 | Human | 1 | name |
| 155911994 | CV1935282 | single nucleotide variant | NM_134261.3(RORA):c.133G>A (p.Val45Met) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002510611] | uncertain significance | 15 | 61229086 | 61229086 | Human | 1 | name |
| 156009452 | CV2290889 | single nucleotide variant | NM_134261.3(RORA):c.184A>T (p.Lys62Ter) | Inborn genetic diseases [RCV002883967] | pathogenic | 15 | 60678669 | 60678669 | Human | 1 | name |
| 156451159 | CV2402534 | single nucleotide variant | NM_134261.3(RORA):c.203T>A (p.Ile68Asn) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003123340] | likely pathogenic | 15 | 60531845 | 60531845 | Human | 1 | name |
| 243051550 | CV2403925 | single nucleotide variant | NM_134261.3(RORA):c.147C>G (p.Ser49Arg) | not provided [RCV003128994] | uncertain significance | 15 | 61229072 | 61229072 | Human | | name |
| 401886065 | CV2771052 | single nucleotide variant | NM_134261.3(RORA):c.179C>T (p.Thr60Met) | Inborn genetic diseases [RCV003351880] | uncertain significance | 15 | 60678674 | 60678674 | Human | 1 | name |
| 401930075 | CV2814169 | single nucleotide variant | NM_134261.3(RORA):c.1134C>T (p.Thr378=) | not provided [RCV003390504] | likely benign | 15 | 60502809 | 60502809 | Human | | name |
| 405266530 | CV3211810 | single nucleotide variant | NM_134261.3(RORA):c.1014C>A (p.Ala338=) | RORA-related disorder [RCV003947100] | likely benign | 15 | 60503596 | 60503596 | Human | | name , trait , alternate_id |
| 405854710 | CV3394817 | single nucleotide variant | NM_134261.3(RORA):c.274G>A (p.Gly92Ser) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004551157] | likely pathogenic | 15 | 60531774 | 60531774 | Human | 1 | name |
| 408394431 | CV3518234 | duplication | NM_134261.3(RORA):c.731dup (p.Cys245fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004759557] | pathogenic | 15 | 60511314 | 60511315 | Human | 1 | name |
| 408389448 | CV3529421 | single nucleotide variant | NM_134261.3(RORA):c.127G>A (p.Ala43Thr) | not provided [RCV004774243] | uncertain significance | 15 | 61229092 | 61229092 | Human | | name |
| 596920313 | CV3532216 | single nucleotide variant | NM_134261.3(RORA):c.251A>C (p.His84Pro) | not provided [RCV004777327] | likely pathogenic | 15 | 60531797 | 60531797 | Human | | name |
| 616939848 | CV4014435 | single nucleotide variant | NM_134261.3(RORA):c.1308G>T (p.Leu436=) | not provided [RCV005413929] | likely benign | 15 | 60499991 | 60499991 | Human | | name |
| 13706750 | CV540568 | single nucleotide variant | NM_134261.3(RORA):c.275G>C (p.Gly92Ala) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000664413] | pathogenic | 15 | 60531773 | 60531773 | Human | 1 | name |
| 13706751 | CV540569 | single nucleotide variant | NM_134261.3(RORA):c.281A>G (p.Lys94Arg) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000664414] | pathogenic | 15 | 60531767 | 60531767 | Human | 1 | name |
| 126909178 | CV1053119 | single nucleotide variant | NM_134261.3(RORA):c.900G>A (p.Trp300Ter) | Neurodevelopmental disorder [RCV001375024] | likely pathogenic | 15 | 60505550 | 60505550 | Human | 1 | name |
| 150453104 | CV1203734 | single nucleotide variant | NM_134261.3(RORA):c.591C>G (p.His197Gln) | Inborn genetic diseases [RCV005271353]|Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001591690] | uncertain significance | 15 | 60511455 | 60511455 | Human | 2 | name |
| 150516229 | CV1287264 | single nucleotide variant | NM_134261.3(RORA):c.604A>G (p.Asn202Asp) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001723256] | uncertain significance | 15 | 60511442 | 60511442 | Human | 1 | name |
| 150520945 | CV1290697 | single nucleotide variant | NM_134261.3(RORA):c.439C>T (p.Arg147Ter) | not provided [RCV001732378] | pathogenic | 15 | 60511607 | 60511607 | Human | | name |
| 150551514 | CV1292763 | single nucleotide variant | NM_134261.3(RORA):c.773C>G (p.Ser258Trp) | not provided [RCV001754371] | uncertain significance | 15 | 60511273 | 60511273 | Human | | name |
| 151352847 | CV1326157 | single nucleotide variant | NM_134261.3(RORA):c.746C>G (p.Pro249Arg) | not provided [RCV001815781] | uncertain significance | 15 | 60511300 | 60511300 | Human | | name |
| 151663692 | CV1334158 | single nucleotide variant | NM_134261.3(RORA):c.932A>G (p.Tyr311Cys) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001839332] | uncertain significance | 15 | 60505518 | 60505518 | Human | 1 | name |
| 151761840 | CV1455934 | single nucleotide variant | NM_134261.3(RORA):c.842C>G (p.Ser281Cys) | not provided [RCV002044371] | uncertain significance | 15 | 60505608 | 60505608 | Human | | name |
| 152981800 | CV1677092 | single nucleotide variant | NM_134261.3(RORA):c.994C>A (p.Gln332Lys) | not specified [RCV002248161] | uncertain significance | 15 | 60503616 | 60503616 | Human | | name |
| 155642917 | CV1707563 | single nucleotide variant | NM_134261.3(RORA):c.919G>C (p.Glu307Gln) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002289024] | uncertain significance | 15 | 60505531 | 60505531 | Human | 1 | name |
| 156276656 | CV2276855 | single nucleotide variant | NM_134261.3(RORA):c.700C>A (p.Leu234Ile) | Inborn genetic diseases [RCV002832648] | uncertain significance | 15 | 60511346 | 60511346 | Human | 1 | name |
| 155929597 | CV2356920 | single nucleotide variant | NM_134261.3(RORA):c.516C>G (p.His172Gln) | Inborn genetic diseases [RCV002970517] | uncertain significance | 15 | 60511530 | 60511530 | Human | 1 | name |
| 156336541 | CV2360758 | single nucleotide variant | NM_134261.3(RORA):c.770G>C (p.Cys257Ser) | Inborn genetic diseases [RCV002673942] | uncertain significance | 15 | 60511276 | 60511276 | Human | 1 | name |
| 156448831 | CV2402250 | single nucleotide variant | NM_134261.3(RORA):c.788A>G (p.Glu263Gly) | not provided [RCV003120409] | uncertain significance | 15 | 60511258 | 60511258 | Human | | name |
| 243052040 | CV2404265 | single nucleotide variant | NM_134261.3(RORA):c.451A>C (p.Lys151Gln) | not provided [RCV003129291] | uncertain significance | 15 | 60511595 | 60511595 | Human | | name |
| 243051588 | CV2413774 | single nucleotide variant | NM_134261.3(RORA):c.592G>A (p.Asp198Asn) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003130418] | uncertain significance | 15 | 60511454 | 60511454 | Human | 1 | name |
| 243064089 | CV2413775 | single nucleotide variant | NM_134261.3(RORA):c.509G>A (p.Arg170His) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003142705]|not provided [RCV003883960] | uncertain significance | 15 | 60511537 | 60511537 | Human | 1 | name |
| 243060223 | CV2413776 | single nucleotide variant | NM_134261.3(RORA):c.613G>A (p.Asp205Asn) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003135788] | uncertain significance | 15 | 60511433 | 60511433 | Human | 1 | name |
| 329398414 | CV2465048 | single nucleotide variant | NM_134261.3(RORA):c.491G>A (p.Arg164Gln) | Inborn genetic diseases [RCV003220459] | uncertain significance | 15 | 60511555 | 60511555 | Human | 1 | name |
| 329955003 | CV2670939 | single nucleotide variant | NM_134261.3(RORA):c.443T>C (p.Met148Thr) | not provided [RCV003236207] | uncertain significance | 15 | 60511603 | 60511603 | Human | | name |
| 401796586 | CV2740752 | single nucleotide variant | NM_134261.3(RORA):c.631G>A (p.Gly211Arg) | Inborn genetic diseases [RCV004661631]|not provided [RCV003321422] | uncertain significance | 15 | 60511415 | 60511415 | Human | 1 | name |
| 401828509 | CV2743460 | single nucleotide variant | NM_134261.3(RORA):c.505C>T (p.Gln169Ter) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003326301] | pathogenic | 15 | 60511541 | 60511541 | Human | 1 | name |
| 401856483 | CV2752537 | single nucleotide variant | NM_134261.3(RORA):c.842C>T (p.Ser281Phe) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003340875] | uncertain significance | 15 | 60505608 | 60505608 | Human | 1 | name |
| 401904351 | CV2814173 | single nucleotide variant | NM_134261.3(RORA):c.616G>A (p.Gly206Arg) | See cases [RCV004798043]|not provided [RCV003394887] | likely benign|uncertain significance | 15 | 60511430 | 60511430 | Human | | name |
| 401914225 | CV2830631 | single nucleotide variant | NM_134261.3(RORA):c.506A>T (p.Gln169Leu) | not provided [RCV003442369] | uncertain significance | 15 | 60511540 | 60511540 | Human | | name |
| 401948182 | CV2832227 | single nucleotide variant | NM_134261.3(RORA):c.409G>A (p.Gly137Arg) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003447752] | uncertain significance | 15 | 60514631 | 60514631 | Human | 1 | name |
| 401962823 | CV2848523 | single nucleotide variant | NM_134261.3(RORA):c.440G>A (p.Arg147Gln) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003482906] | uncertain significance | 15 | 60511606 | 60511606 | Human | 1 | name |
| 405003749 | CV3184494 | single nucleotide variant | NM_134261.3(RORA):c.499C>T (p.Gln167Ter) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003883283] | pathogenic | 15 | 60511547 | 60511547 | Human | 1 | name |
| 405854873 | CV3394989 | single nucleotide variant | NM_134261.3(RORA):c.386G>C (p.Arg129Pro) | not provided [RCV004555130] | uncertain significance | 15 | 60514654 | 60514654 | Human | | name |
| 405853895 | CV3395311 | deletion | NM_134261.3(RORA):c.1345del (p.Ile449fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004555448] | likely pathogenic | 15 | 60499954 | 60499954 | Human | 1 | name |
| 405853897 | CV3395313 | single nucleotide variant | NM_134261.3(RORA):c.851A>C (p.His284Pro) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004555450] | uncertain significance | 15 | 60505599 | 60505599 | Human | 1 | name |
| 407427867 | CV3412165 | single nucleotide variant | NM_134261.3(RORA):c.419G>A (p.Arg140Gln) | not provided [RCV004592336] | uncertain significance | 15 | 60514621 | 60514621 | Human | | name |
| 407477014 | CV3495037 | single nucleotide variant | NM_134261.3(RORA):c.799A>G (p.Thr267Ala) | not specified [RCV004690939] | uncertain significance | 15 | 60511247 | 60511247 | Human | | name |
| 408383075 | CV3504677 | single nucleotide variant | NM_134261.3(RORA):c.823C>T (p.His275Tyr) | RORA-related disorder [RCV004730395] | uncertain significance | 15 | 60505627 | 60505627 | Human | | name , trait , alternate_id |
| 408387272 | CV3524478 | single nucleotide variant | NM_134261.3(RORA):c.370C>A (p.Arg124Ser) | not provided [RCV004768352] | uncertain significance | 15 | 60514670 | 60514670 | Human | | name |
| 596923778 | CV3532029 | single nucleotide variant | NM_134261.3(RORA):c.573C>G (p.Asn191Lys) | not provided [RCV004777140] | uncertain significance | 15 | 60511473 | 60511473 | Human | | name |
| 596921515 | CV3535137 | single nucleotide variant | NM_134261.3(RORA):c.437G>A (p.Gly146Asp) | not provided [RCV004784696] | uncertain significance | 15 | 60511609 | 60511609 | Human | | name |
| 596922285 | CV3537083 | single nucleotide variant | NM_134261.3(RORA):c.416C>G (p.Ser139Cys) | not provided [RCV004786078] | uncertain significance | 15 | 60514624 | 60514624 | Human | | name |
| 596942056 | CV3543958 | single nucleotide variant | NM_134261.3(RORA):c.641C>T (p.Ala214Val) | not specified [RCV004799948] | uncertain significance | 15 | 60511405 | 60511405 | Human | | name |
| 597719121 | CV3586952 | single nucleotide variant | NM_134261.3(RORA):c.652G>A (p.Val218Ile) | Inborn genetic diseases [RCV004960278] | likely benign | 15 | 60511394 | 60511394 | Human | 1 | name |
| 597719133 | CV3586954 | single nucleotide variant | NM_134261.3(RORA):c.622A>G (p.Thr208Ala) | Inborn genetic diseases [RCV004960280] | uncertain significance | 15 | 60511424 | 60511424 | Human | 1 | name |
| 597719140 | CV3586955 | single nucleotide variant | NM_134261.3(RORA):c.655A>G (p.Ser219Gly) | Inborn genetic diseases [RCV004960281] | uncertain significance | 15 | 60511391 | 60511391 | Human | 1 | name |
| 597719149 | CV3586957 | single nucleotide variant | NM_134261.3(RORA):c.838A>G (p.Ile280Val) | Inborn genetic diseases [RCV004960283] | uncertain significance | 15 | 60505612 | 60505612 | Human | 1 | name |
| 597719156 | CV3586958 | single nucleotide variant | NM_134261.3(RORA):c.553A>G (p.Thr185Ala) | Inborn genetic diseases [RCV004960284] | uncertain significance | 15 | 60511493 | 60511493 | Human | 1 | name |
| 597719163 | CV3586959 | single nucleotide variant | NM_134261.3(RORA):c.896C>T (p.Thr299Met) | Inborn genetic diseases [RCV004960285] | uncertain significance | 15 | 60505554 | 60505554 | Human | 1 | name |
| 597719170 | CV3586961 | single nucleotide variant | NM_134261.3(RORA):c.733T>C (p.Cys245Arg) | Inborn genetic diseases [RCV004960286] | uncertain significance | 15 | 60511313 | 60511313 | Human | 1 | name |
| 12741777 | CV361144 | deletion | NM_134261.3(RORA):c.1019del (p.Arg340fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000664410]|Severe intellectual deficiency [RCV000415103] | pathogenic|likely pathogenic | 15 | 60503591 | 60503591 | Human | 2 | name |
| 598123092 | CV3890196 | single nucleotide variant | NM_134261.3(RORA):c.475G>C (p.Glu159Gln) | not provided [RCV005250715] | uncertain significance | 15 | 60511571 | 60511571 | Human | | name |
| 616938244 | CV4013085 | single nucleotide variant | NM_134261.3(RORA):c.736G>T (p.Asp246Tyr) | not provided [RCV005410552] | uncertain significance | 15 | 60511310 | 60511310 | Human | | name |
| 21072688 | CV791477 | single nucleotide variant | NM_134261.3(RORA):c.386G>A (p.Arg129Gln) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000989340] | likely pathogenic | 15 | 60514654 | 60514654 | Human | 1 | name |
| 38465739 | CV920541 | single nucleotide variant | NM_134261.3(RORA):c.802G>A (p.Val268Met) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001199955]|See cases [RCV002252327] | uncertain significance | 15 | 60511244 | 60511244 | Human | 1 | name |
| 40887370 | CV973959 | single nucleotide variant | NM_134261.3(RORA):c.983C>G (p.Thr328Arg) | Inborn genetic diseases [RCV001266919]|not provided [RCV002305585] | uncertain significance | 15 | 60503627 | 60503627 | Human | 1 | name |
| 40889977 | CV975416 | single nucleotide variant | NM_134261.3(RORA):c.919G>T (p.Glu307Ter) | not provided [RCV001268522] | likely pathogenic | 15 | 60505531 | 60505531 | Human | | name |
| 126728496 | CV1017935 | single nucleotide variant | NM_134261.3(RORA):c.1210T>C (p.Phe404Leu) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001332867] | uncertain significance | 15 | 60501043 | 60501043 | Human | 1 | name |
| 150552263 | CV1301203 | single nucleotide variant | NM_134261.3(RORA):c.1397T>C (p.Ile466Thr) | not provided [RCV001767613] | uncertain significance | 15 | 60499902 | 60499902 | Human | | name |
| 150552035 | CV1302132 | single nucleotide variant | NM_134261.3(RORA):c.1072G>A (p.Ala358Thr) | not provided [RCV001767396] | uncertain significance | 15 | 60503538 | 60503538 | Human | | name |
| 150534681 | CV1311526 | single nucleotide variant | NM_134261.3(RORA):c.1355C>T (p.Ala452Val) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001779372] | likely benign | 15 | 60499944 | 60499944 | Human | 1 | name |
| 153001057 | CV1684270 | single nucleotide variant | NM_134261.3(RORA):c.1384C>T (p.Arg462Ter) | Inborn genetic diseases [RCV004958505]|not provided [RCV002255772] | pathogenic|likely pathogenic | 15 | 60499915 | 60499915 | Human | 1 | name |
| 153304629 | CV1687185 | single nucleotide variant | NM_134261.3(RORA):c.1096A>G (p.Ile366Val) | not provided [RCV002262473] | uncertain significance | 15 | 60502847 | 60502847 | Human | | name |
| 156049325 | CV1867632 | single nucleotide variant | NM_134261.3(RORA):c.1022T>C (p.Ile341Thr) | not provided [RCV002510104] | uncertain significance | 15 | 60503588 | 60503588 | Human | | name |
| 156141064 | CV2199904 | single nucleotide variant | NM_134261.3(RORA):c.1345A>G (p.Ile449Val) | Inborn genetic diseases [RCV002641280] | uncertain significance | 15 | 60499954 | 60499954 | Human | 1 | name |
| 243051145 | CV2413778 | single nucleotide variant | NM_134261.3(RORA):c.1560A>C (p.Gln520His) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003130419] | uncertain significance | 15 | 60497467 | 60497467 | Human | 1 | name |
| 243060225 | CV2413779 | single nucleotide variant | NM_134261.3(RORA):c.1165G>A (p.Asp389Asn) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003135790] | uncertain significance | 15 | 60502778 | 60502778 | Human | 1 | name |
| 243051402 | CV2415866 | single nucleotide variant | NM_134261.3(RORA):c.1251A>C (p.Glu417Asp) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003148482] | uncertain significance | 15 | 60501002 | 60501002 | Human | 1 | name |
| 243051730 | CV2415965 | single nucleotide variant | NM_134261.3(RORA):c.1069A>T (p.Lys357Ter) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003148589] | pathogenic | 15 | 60503541 | 60503541 | Human | 1 | name |
| 243052720 | CV2416208 | single nucleotide variant | NM_134261.3(RORA):c.1382A>G (p.His461Arg) | not provided [RCV003149269] | uncertain significance | 15 | 60499917 | 60499917 | Human | | name |
| 329847106 | CV2524174 | single nucleotide variant | NM_134261.3(RORA):c.1304G>A (p.Trp435Ter) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003226882] | likely pathogenic | 15 | 60499995 | 60499995 | Human | 1 | name |
| 401871486 | CV2749550 | single nucleotide variant | NM_134261.3(RORA):c.1087G>C (p.Val363Leu) | not provided [RCV003332678] | uncertain significance | 15 | 60502856 | 60502856 | Human | | name |
| 405718855 | CV3309797 | single nucleotide variant | NM_134261.3(RORA):c.1109G>A (p.Arg370His) | Inborn genetic diseases [RCV004449545] | uncertain significance | 15 | 60502834 | 60502834 | Human | 1 | name |
| 405853597 | CV3393147 | single nucleotide variant | NM_134261.3(RORA):c.1571A>T (p.Ter524Leu) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004546868] | uncertain significance | 15 | 60497456 | 60497456 | Human | 1 | name |
| 407487211 | CV3479900 | single nucleotide variant | NM_134261.3(RORA):c.1383C>A (p.His461Gln) | Inborn genetic diseases [RCV004665622] | uncertain significance | 15 | 60499916 | 60499916 | Human | 1 | name |
| 407487219 | CV3479902 | single nucleotide variant | NM_134261.3(RORA):c.1399C>G (p.Leu467Val) | Inborn genetic diseases [RCV004665624] | uncertain significance | 15 | 60499900 | 60499900 | Human | 1 | name |
| 408381930 | CV3502054 | single nucleotide variant | NM_134261.3(RORA):c.1013C>A (p.Ala338Asp) | not provided [RCV004729582] | likely pathogenic | 15 | 60503597 | 60503597 | Human | | name |
| 408389633 | CV3524676 | single nucleotide variant | NM_134261.3(RORA):c.1549C>G (p.Pro517Ala) | not provided [RCV004769571] | uncertain significance | 15 | 60497478 | 60497478 | Human | | name |
| 408390577 | CV3527623 | single nucleotide variant | NM_134261.3(RORA):c.1018C>T (p.Arg340Cys) | not provided [RCV004774890] | uncertain significance | 15 | 60503592 | 60503592 | Human | | name |
| 596921694 | CV3535320 | single nucleotide variant | NM_134261.3(RORA):c.1151A>G (p.Lys384Arg) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004784875] | uncertain significance | 15 | 60502792 | 60502792 | Human | 1 | name |
| 596922327 | CV3537125 | single nucleotide variant | NM_134261.3(RORA):c.1486C>G (p.Pro496Ala) | not provided [RCV004786120] | uncertain significance | 15 | 60497541 | 60497541 | Human | | name |
| 597719126 | CV3586953 | single nucleotide variant | NM_134261.3(RORA):c.1486C>T (p.Pro496Ser) | Inborn genetic diseases [RCV004960279] | uncertain significance | 15 | 60497541 | 60497541 | Human | 1 | name |
| 597719176 | CV3586962 | single nucleotide variant | NM_134261.3(RORA):c.1480A>G (p.Ile494Val) | Inborn genetic diseases [RCV004960287] | uncertain significance | 15 | 60497547 | 60497547 | Human | 1 | name |
| 597831829 | CV3863950 | single nucleotide variant | NM_134261.3(RORA):c.1436C>T (p.Ala479Val) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV005208364] | uncertain significance | 15 | 60497591 | 60497591 | Human | 1 | name |
| 598223518 | CV3894014 | single nucleotide variant | NM_134261.3(RORA):c.1456G>C (p.Glu486Gln) | not provided [RCV005257257] | likely benign | 15 | 60497571 | 60497571 | Human | | name |
| 598159173 | CV3897036 | single nucleotide variant | NM_134261.3(RORA):c.1079C>T (p.Ser360Phe) | not provided [RCV005368010] | uncertain significance | 15 | 60502864 | 60502864 | Human | | name |
| 598219644 | CV3906126 | single nucleotide variant | NM_134261.3(RORA):c.1168G>A (p.Val390Ile) | Inborn genetic diseases [RCV005272109] | likely benign | 15 | 60502775 | 60502775 | Human | 1 | name |
| 13706749 | CV540567 | single nucleotide variant | NM_134261.3(RORA):c.1385G>A (p.Arg462Gln) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000664412]|not provided [RCV002473101] | pathogenic|uncertain significance | 15 | 60499914 | 60499914 | Human | 1 | name |
| 13790385 | CV550291 | single nucleotide variant | NM_134261.3(RORA):c.1498C>T (p.Arg500Ter) | not provided [RCV000677292] | pathogenic | 15 | 60497529 | 60497529 | Human | | name |
| 39456967 | CV966286 | single nucleotide variant | NM_134261.3(RORA):c.1365C>A (p.His455Gln) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV004799419] | uncertain significance | 15 | 60499934 | 60499934 | Human | 1 | name |
| 40815101 | CV971024 | single nucleotide variant | NM_134261.3(RORA):c.1447C>T (p.Arg483Ter) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV001262438]|not provided [RCV002541591] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 60497580 | 60497580 | Human | 1 | name |
| 40887306 | CV973958 | single nucleotide variant | NM_134261.3(RORA):c.1016A>C (p.Lys339Thr) | Inborn genetic diseases [RCV001266825] | uncertain significance | 15 | 60503594 | 60503594 | Human | 1 | name |
| 41408070 | CV980724 | deletion | NM_134261.3(RORA):c.196+51382_196+51385del | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002275335]|not provided [RCV004692406] | likely benign|uncertain significance | 15 | 60627272 | 60627275 | Human | 1 | name |
| 127230448 | CV1087083 | deletion | NM_134261.3(RORA):c.626_627del (p.Pro209fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV002070260]|Neurodevelopmental disorder [RCV002276732]|See cases [RCV001420339] | pathogenic|likely pathogenic|uncertain significance | 15 | 60511419 | 60511420 | Human | 2 | name |
| 150508577 | CV1244866 | microsatellite | NM_134261.3(RORA):c.351_354del (p.Asp118fs) | not provided [RCV001659116] | pathogenic | 15 | 60514686 | 60514689 | Human | | name |
| 616933450 | CV4013697 | deletion | NM_134261.3(RORA):c.559_566del (p.Asn187fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV005411187] | likely pathogenic | 15 | 60511480 | 60511487 | Human | 1 | name |
| 13706747 | CV540566 | microsatellite | NM_134261.3(RORA):c.804_805del (p.Ser269fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000664411]|not provided [RCV001008156] | pathogenic | 15 | 60511241 | 60511242 | Human | | name |
| 21075037 | CV798688 | duplication | NM_134261.3(RORA):c.867_876dup (p.Glu293fs) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000995857] | pathogenic | 15 | 60505573 | 60505574 | Human | 1 | name |
| 41406190 | CV980271 | duplication | NM_134261.3(RORA):c.1092_1095dup (p.Ile366fs) | not provided [RCV001280791] | likely pathogenic | 15 | 60502847 | 60502848 | Human | | name |
| 598176573 | CV3891134 | indel | NM_134261.3(RORA):c.569_574delinsTC (p.Ala190fs) | not provided [RCV005251987] | pathogenic | 15 | 60511472 | 60511477 | Human | | name |
| 405744762 | CV3226145 | indel | NM_134261.3(RORA):c.974_975delinsAA (p.Ile325Lys) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003991136] | uncertain significance | 15 | 60503635 | 60503636 | Human | | name |
| 14698716 | CV624068 | indel | NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV000787966] | likely pathogenic | 15 | 60505623 | 60505646 | Human | | name |
| 156003214 | CV2293442 | indel | NM_134261.3(RORA):c.1268_1291delinsAT (p.Phe423fs) | Inborn genetic diseases [RCV002883450] | pathogenic | 15 | 60500962 | 60500985 | Human | | name |
| 155795467 | CV1861317 | deletion | NM_134261.3(RORA):c.1571_*29del (p.Ter524SerextTer?) | not provided [RCV002469599] | uncertain significance | 15 | 60497426 | 60497456 | Human | | name |
| 405853521 | CV3392823 | microsatellite | NM_134261.3(RORA):c.497AGC[5] (p.Gln169_Arg170insGln) | not provided [RCV004794676]|not specified [RCV004526549] | uncertain significance | 15 | 60511537 | 60511538 | Human | | name |
| 401946340 | CV2839691 | duplication | NM_134261.3(RORA):c.698_719dup (p.Lys240_Pro241insSerTer) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [RCV003458991] | likely pathogenic | 15 | 60511326 | 60511327 | Human | 1 | name |
