| 151355165 | CV1328232 | single nucleotide variant | NM_033022.4(RPS24):c.-4C>T | RPS24-related disorder [RCV003948744]|not specified [RCV001820237] | likely benign|uncertain significance | 10 | 78033898 | 78033898 | Human | 1 | name , trait , alternate_id |
| 401938445 | CV2809414 | single nucleotide variant | NM_033022.4(RPS24):c.-5C>T | not provided [RCV003417542] | likely benign | 10 | 78033897 | 78033897 | Human | | name |
| 11665966 | CV322683 | single nucleotide variant | NM_033022.4(RPS24):c.-8T>G | Diamond-Blackfan anemia 3 [RCV001103178]|Diamond-Blackfan anemia [RCV000305511]|POLR-related leukodystrophy [RCV000329929]|not provided [RCV002286729]|not specified [RCV000500183] | benign|likely benign | 10 | 78033894 | 78033894 | Human | 4 | name |
| 597717107 | CV3726518 | single nucleotide variant | NM_033022.4(RPS24):c.-8T>A | Diamond-Blackfan anemia 3 [RCV005049289] | uncertain significance | 10 | 78033894 | 78033894 | Human | 1 | name |
| 597656167 | CV3726519 | single nucleotide variant | NM_033022.4(RPS24):c.-4C>G | Diamond-Blackfan anemia 3 [RCV005041632] | uncertain significance | 10 | 78033898 | 78033898 | Human | 1 | name |
| 28898931 | CV866352 | single nucleotide variant | NM_033022.4(RPS24):c.-7C>A | Diamond-Blackfan anemia 3 [RCV001103179] | benign | 10 | 78033895 | 78033895 | Human | 1 | name |
| 156373503 | CV1932910 | single nucleotide variant | NM_033022.4(RPS24):c.3+7C>G | Diamond-Blackfan anemia [RCV002633619] | likely benign | 10 | 78033911 | 78033911 | Human | 2 | name |
| 156441746 | CV1941399 | single nucleotide variant | NM_033022.4(RPS24):c.4-3C>T | Diamond-Blackfan anemia 3 [RCV005047416]|Diamond-Blackfan anemia [RCV003112078] | uncertain significance | 10 | 78035349 | 78035349 | Human | 3 | name |
| 11607191 | CV311240 | single nucleotide variant | NM_033022.3(RPS24):c.-50G>A | Diamond-Blackfan anemia 3 [RCV000340639]|not specified [RCV000615848] | likely benign | 10 | 78033852 | 78033852 | Human | 1 | name |
| 11611894 | CV322682 | single nucleotide variant | NM_033022.4(RPS24):c.-36T>G | Diamond-Blackfan anemia 3 [RCV000400663] | benign|likely benign | 10 | 78033866 | 78033866 | Human | 1 | name |
| 11600708 | CV322696 | single nucleotide variant | NM_033022.4(RPS24):c.*21C>T | Diamond-Blackfan anemia 3 [RCV000276044]|RPS24-related disorder [RCV003930271]|not provided [RCV003417979] | benign|likely benign | 10 | 78040616 | 78040616 | Human | 1 | name , trait , alternate_id |
| 11606018 | CV323403 | single nucleotide variant | NM_033022.4(RPS24):c.*99T>C | Diamond-Blackfan anemia 3 [RCV000326342]|not provided [RCV004718325] | benign|likely benign | 10 | 78040694 | 78040694 | Human | 1 | name |
| 597863618 | CV3800460 | single nucleotide variant | NM_033022.4(RPS24):c.4-3C>G | Diamond-Blackfan anemia [RCV005137552] | uncertain significance | 10 | 78035349 | 78035349 | Human | 2 | name |
| 598128350 | CV3887554 | single nucleotide variant | NM_033022.4(RPS24):c.*22G>A | not provided [RCV005243727] | likely benign | 10 | 78040617 | 78040617 | Human | | name |
| 13213716 | CV429131 | single nucleotide variant | NM_033022.4(RPS24):c.*11G>A | Diamond-Blackfan anemia 3 [RCV002481627]|not provided [RCV001595011]|not specified [RCV000500351] | likely benign | 10 | 78040217 | 78040217 | Human | 1 | name |
| 15125340 | CV685276 | single nucleotide variant | NM_033022.4(RPS24):c.3+7C>T | Diamond-Blackfan anemia 3 [RCV001105092]|Diamond-Blackfan anemia [RCV002064457] | likely benign|uncertain significance | 10 | 78033911 | 78033911 | Human | 3 | name |
| 15120381 | CV695487 | single nucleotide variant | NM_033022.4(RPS24):c.3+9C>T | Diamond-Blackfan anemia [RCV003768677] | likely benign | 10 | 78033913 | 78033913 | Human | 2 | name |
| 28898918 | CV866348 | single nucleotide variant | NM_033022.3(RPS24):c.-47T>G | Diamond-Blackfan anemia 3 [RCV001103174] | uncertain significance | 10 | 78033855 | 78033855 | Human | 1 | name |
| 28898920 | CV866349 | single nucleotide variant | NM_033022.4(RPS24):c.-37C>T | Diamond-Blackfan anemia 3 [RCV001103175] | likely benign | 10 | 78033865 | 78033865 | Human | 1 | name |
| 28898924 | CV866350 | single nucleotide variant | NM_033022.4(RPS24):c.-32C>T | Diamond-Blackfan anemia 3 [RCV001103176] | benign | 10 | 78033870 | 78033870 | Human | 1 | name |
| 28898926 | CV866351 | single nucleotide variant | NM_033022.4(RPS24):c.-23C>T | Diamond-Blackfan anemia 3 [RCV001103177] | likely benign | 10 | 78033879 | 78033879 | Human | 1 | name |
| 28903362 | CV868513 | single nucleotide variant | NM_033022.4(RPS24):c.4-7T>C | Diamond-Blackfan anemia 3 [RCV001105094] | uncertain significance | 10 | 78035345 | 78035345 | Human | 1 | name |
| 151349300 | CV1170259 | single nucleotide variant | NM_033022.4(RPS24):c.69+1G>T | Abnormality of blood and blood-forming tissues [RCV001814508] | likely pathogenic | 10 | 78035418 | 78035418 | Human | 1 | name |
| 151233756 | CV1318592 | single nucleotide variant | NM_033022.4(RPS24):c.3+26C>T | Diamond-Blackfan anemia 3 [RCV001794920]|not provided [RCV004718974] | benign | 10 | 78033930 | 78033930 | Human | 1 | name |
| 152027685 | CV1529536 | single nucleotide variant | NM_033022.4(RPS24):c.4-20C>G | Diamond-Blackfan anemia [RCV002185584] | likely benign | 10 | 78035332 | 78035332 | Human | 2 | name |
| 152083299 | CV1569431 | single nucleotide variant | NM_033022.4(RPS24):c.3+17C>T | Diamond-Blackfan anemia [RCV002113051] | likely benign | 10 | 78033921 | 78033921 | Human | 2 | name |
| 155912040 | CV2029456 | single nucleotide variant | NM_033022.4(RPS24):c.3+16C>T | Diamond-Blackfan anemia [RCV002750214] | likely benign | 10 | 78033920 | 78033920 | Human | 2 | name |
| 402496265 | CV2875381 | single nucleotide variant | NM_033022.4(RPS24):c.4-16G>C | Diamond-Blackfan anemia [RCV003508218] | likely benign | 10 | 78035336 | 78035336 | Human | 2 | name |
| 405113883 | CV2950127 | single nucleotide variant | NM_033022.4(RPS24):c.4-11T>C | Diamond-Blackfan anemia [RCV003616092] | likely benign | 10 | 78035341 | 78035341 | Human | 2 | name |
| 405115819 | CV2988255 | single nucleotide variant | NM_033022.4(RPS24):c.3+20T>A | Diamond-Blackfan anemia [RCV003616392] | likely benign | 10 | 78033924 | 78033924 | Human | 2 | name |
| 405122559 | CV3056369 | single nucleotide variant | NM_033022.4(RPS24):c.3+14G>C | Diamond-Blackfan anemia [RCV003617244] | likely benign | 10 | 78033918 | 78033918 | Human | 2 | name |
| 11662305 | CV322670 | single nucleotide variant | NM_033022.3(RPS24):c.-142A>G | Diamond-Blackfan anemia 3 [RCV000384671] | uncertain significance | 10 | 78033760 | 78033760 | Human | 1 | name |
| 11665483 | CV322671 | single nucleotide variant | NM_033022.3(RPS24):c.-109A>G | Diamond-Blackfan anemia 3 [RCV001108353]|Diamond-Blackfan anemia [RCV000290077]|POLR-related leukodystrophy [RCV000274775]|not provided [RCV004718323] | benign | 10 | 78033793 | 78033793 | Human | 4 | name |
| 597909601 | CV3839941 | single nucleotide variant | NM_033022.4(RPS24):c.3+12T>C | Diamond-Blackfan anemia [RCV005184680] | likely benign | 10 | 78033916 | 78033916 | Human | 2 | name |
| 28903360 | CV868512 | single nucleotide variant | NM_033022.4(RPS24):c.3+15G>A | Diamond-Blackfan anemia 3 [RCV001105093] | likely benign | 10 | 78033919 | 78033919 | Human | 1 | name |
| 127242524 | CV1099190 | single nucleotide variant | NM_033022.4(RPS24):c.69+10G>A | Diamond-Blackfan anemia [RCV001423754] | likely benign | 10 | 78035427 | 78035427 | Human | 2 | name |
| 150482994 | CV1210059 | single nucleotide variant | NM_033022.4(RPS24):c.4-289G>A | not provided [RCV001590758] | likely benign | 10 | 78035063 | 78035063 | Human | | name |
| 150459585 | CV1248689 | single nucleotide variant | NM_033022.4(RPS24):c.3+215C>T | not provided [RCV001669299] | benign | 10 | 78034119 | 78034119 | Human | | name |
| 150442725 | CV1264482 | single nucleotide variant | NM_033022.4(RPS24):c.3+220C>T | not provided [RCV001679465] | benign | 10 | 78034124 | 78034124 | Human | | name |
| 151819491 | CV1375377 | duplication | NM_033022.4(RPS24):c.390+3dup | Diamond-Blackfan anemia [RCV001960310] | uncertain significance | 10 | 78037306 | 78037307 | Human | 2 | name |
| 151713838 | CV1398254 | duplication | NM_033022.4(RPS24):c.279+2dup | Diamond-Blackfan anemia [RCV002013342] | uncertain significance | 10 | 78035721 | 78035722 | Human | 2 | name |
| 155686197 | CV1853393 | single nucleotide variant | NM_033022.4(RPS24):c.279+5G>T | Diamond-Blackfan anemia [RCV002441408] | likely pathogenic | 10 | 78035725 | 78035725 | Human | 2 | name |
| 156379394 | CV1927400 | single nucleotide variant | NM_033022.4(RPS24):c.69+17C>T | Diamond-Blackfan anemia [RCV002634144] | likely benign | 10 | 78035434 | 78035434 | Human | 2 | name |
| 156047419 | CV2030942 | single nucleotide variant | NM_033022.4(RPS24):c.280-6A>G | Diamond-Blackfan anemia [RCV002736397] | likely benign | 10 | 78037188 | 78037188 | Human | 2 | name |
| 156329122 | CV2065053 | duplication | NM_033022.4(RPS24):c.391-4dup | Diamond-Blackfan anemia [RCV002835191] | likely benign | 10 | 78040198 | 78040199 | Human | 2 | name |
| 156390256 | CV2122410 | single nucleotide variant | NM_033022.4(RPS24):c.391-6A>G | Diamond-Blackfan anemia [RCV002943825] | likely benign | 10 | 78040198 | 78040198 | Human | 2 | name |
| 402475508 | CV2850919 | single nucleotide variant | NM_033022.4(RPS24):c.390+4T>C | Diamond-Blackfan anemia 3 [RCV003486224]|Diamond-Blackfan anemia [RCV003779254] | uncertain significance | 10 | 78037308 | 78037308 | Human | 3 | name |
| 402498961 | CV2885100 | single nucleotide variant | NM_033022.4(RPS24):c.70-14A>G | Diamond-Blackfan anemia [RCV003508503] | likely benign | 10 | 78035497 | 78035497 | Human | 2 | name |
| 402498540 | CV2887551 | single nucleotide variant | NM_033022.4(RPS24):c.69+11G>A | Diamond-Blackfan anemia [RCV003508459] | likely benign | 10 | 78035428 | 78035428 | Human | 2 | name |
| 405119300 | CV3007407 | single nucleotide variant | NM_033022.4(RPS24):c.70-15G>T | Diamond-Blackfan anemia [RCV003616834] | likely benign | 10 | 78035496 | 78035496 | Human | 2 | name |
| 405122471 | CV3046009 | single nucleotide variant | NM_033022.4(RPS24):c.280-6A>C | Diamond-Blackfan anemia [RCV003617230] | likely benign | 10 | 78037188 | 78037188 | Human | 2 | name |
| 405122090 | CV3051420 | single nucleotide variant | NM_033022.4(RPS24):c.390+9C>T | Diamond-Blackfan anemia [RCV003617181] | likely benign | 10 | 78037313 | 78037313 | Human | 2 | name |
| 11609631 | CV311253 | single nucleotide variant | NM_033022.4(RPS24):c.391-3C>A | Diamond-Blackfan anemia 3 [RCV001093998]|Diamond-Blackfan anemia [RCV000371000]|RPS24-related disorder [RCV003967864]|not provided [RCV004718324]|not specified [RCV000506772] | benign | 10 | 78040201 | 78040201 | Human | 4 | name , trait , alternate_id |
| 408378324 | CV3512035 | single nucleotide variant | NM_033022.4(RPS24):c.279+4G>C | RPS24-related disorder [RCV004752215] | likely benign | 10 | 78035724 | 78035724 | Human | | name , trait , alternate_id |
| 15200458 | CV775553 | single nucleotide variant | NM_033022.4(RPS24):c.70-10C>T | Diamond-Blackfan anemia [RCV001398006] | likely benign | 10 | 78035501 | 78035501 | Human | 2 | name |
| 150414031 | CV1191104 | single nucleotide variant | NM_033022.4(RPS24):c.*19+60T>C | not provided [RCV001567387] | likely benign | 10 | 78040285 | 78040285 | Human | | name |
| 150471175 | CV1209493 | single nucleotide variant | NM_033022.4(RPS24):c.280-52G>A | not provided [RCV001588604] | likely benign | 10 | 78037142 | 78037142 | Human | | name |
| 152072369 | CV1552309 | single nucleotide variant | NM_033022.4(RPS24):c.390+14A>G | Diamond-Blackfan anemia [RCV002148256] | likely benign | 10 | 78037318 | 78037318 | Human | 2 | name |
| 152096826 | CV1623487 | single nucleotide variant | NM_033022.4(RPS24):c.391-14C>T | Diamond-Blackfan anemia [RCV002213471] | likely benign | 10 | 78040190 | 78040190 | Human | 2 | name |
| 156028052 | CV1893381 | single nucleotide variant | NM_033022.4(RPS24):c.280-19G>T | Diamond-Blackfan anemia [RCV003077966] | likely benign | 10 | 78037175 | 78037175 | Human | 2 | name |
| 156089301 | CV2017475 | single nucleotide variant | NM_033022.4(RPS24):c.279+17T>A | Diamond-Blackfan anemia [RCV002694885] | likely benign | 10 | 78035737 | 78035737 | Human | 2 | name |
| 402497827 | CV2869052 | single nucleotide variant | NM_033022.4(RPS24):c.391-11C>T | Diamond-Blackfan anemia [RCV003508331] | likely benign | 10 | 78040193 | 78040193 | Human | 2 | name |
| 405113197 | CV2943988 | single nucleotide variant | NM_033022.4(RPS24):c.280-14C>G | Diamond-Blackfan anemia [RCV003615997] | likely benign | 10 | 78037180 | 78037180 | Human | 2 | name |
| 405120073 | CV3023287 | single nucleotide variant | NM_033022.4(RPS24):c.390+13A>C | Diamond-Blackfan anemia [RCV003616933] | likely benign | 10 | 78037317 | 78037317 | Human | 2 | name |
| 597841595 | CV3783505 | single nucleotide variant | NM_033022.4(RPS24):c.280-17A>C | Diamond-Blackfan anemia [RCV005116193] | likely benign | 10 | 78037177 | 78037177 | Human | 2 | name |
| 597907623 | CV3829944 | single nucleotide variant | NM_033022.4(RPS24):c.279+18T>A | Diamond-Blackfan anemia [RCV005182513] | likely benign | 10 | 78035738 | 78035738 | Human | 2 | name |
| 150411838 | CV1177352 | single nucleotide variant | NM_001142285.2(RPS24):c.*100C>T | not provided [RCV001547316] | likely benign | 10 | 78055110 | 78055110 | Human | | name |
| 150417679 | CV1194386 | single nucleotide variant | NM_033022.4(RPS24):c.390+465C>T | not provided [RCV001568874] | likely benign | 10 | 78037769 | 78037769 | Human | | name |
| 150412001 | CV1198083 | single nucleotide variant | NM_033022.4(RPS24):c.390+967G>A | not provided [RCV001574216] | likely benign | 10 | 78038271 | 78038271 | Human | | name |
| 150412459 | CV1198084 | single nucleotide variant | NM_033022.4(RPS24):c.391-243C>T | not provided [RCV001574360] | likely benign | 10 | 78039961 | 78039961 | Human | | name |
| 150453214 | CV1205619 | single nucleotide variant | NM_001142285.2(RPS24):c.*205C>T | not provided [RCV001585520] | likely benign | 10 | 78055215 | 78055215 | Human | | name |
| 150490535 | CV1210215 | single nucleotide variant | NM_033022.4(RPS24):c.280-276C>T | not provided [RCV001592497] | likely benign | 10 | 78036918 | 78036918 | Human | | name |
| 150433583 | CV1216958 | single nucleotide variant | NM_033022.4(RPS24):c.390+622G>T | not provided [RCV001608860] | benign | 10 | 78037926 | 78037926 | Human | | name |
| 150498298 | CV1224114 | single nucleotide variant | NM_033022.4(RPS24):c.280-226G>C | not provided [RCV001620226] | benign | 10 | 78036968 | 78036968 | Human | | name |
| 150476894 | CV1251933 | single nucleotide variant | NM_033022.4(RPS24):c.280-149C>T | not provided [RCV001672132] | benign | 10 | 78037045 | 78037045 | Human | | name |
| 150464647 | CV1252735 | single nucleotide variant | NM_033022.4(RPS24):c.390+628C>T | not provided [RCV001670059] | benign | 10 | 78037932 | 78037932 | Human | | name |
| 150455013 | CV1261082 | single nucleotide variant | NM_033022.4(RPS24):c.279+102T>G | not provided [RCV001681280] | benign | 10 | 78035822 | 78035822 | Human | | name |
| 150491741 | CV1280578 | single nucleotide variant | NM_033022.4(RPS24):c.280-271A>T | not provided [RCV001716691] | benign | 10 | 78036923 | 78036923 | Human | | name |
| 151750763 | CV1335586 | single nucleotide variant | NM_033022.4(RPS24):c.390+436T>G | not provided [RCV001847428] | likely benign | 10 | 78037740 | 78037740 | Human | | name |
| 14696513 | CV622106 | single nucleotide variant | NM_001142285.2(RPS24):c.391-2A>T | not provided [RCV000782198] | uncertain significance | 10 | 78054529 | 78054529 | Human | | name |
| 150457089 | CV1269162 | microsatellite | NM_033022.4(RPS24):c.390+629CT[2] | not provided [RCV001692986] | benign | 10 | 78037933 | 78037934 | Human | | name |
| 150419230 | CV1198085 | single nucleotide variant | NM_001142285.2(RPS24):c.391-271G>A | not provided [RCV001577081] | likely benign | 10 | 78054260 | 78054260 | Human | | name |
| 13215487 | CV429129 | single nucleotide variant | NM_033022.4(RPS24):c.6C>T (p.Asn2=) | Diamond-Blackfan anemia [RCV000530352]|not specified [RCV000502571] | likely benign | 10 | 78035354 | 78035354 | Human | 2 | name |
| 127293337 | CV1120761 | single nucleotide variant | NM_033022.4(RPS24):c.21C>T (p.Ile7=) | Diamond-Blackfan anemia 3 [RCV005050380]|Diamond-Blackfan anemia [RCV001451962] | likely benign|uncertain significance | 10 | 78035369 | 78035369 | Human | 3 | name |
| 405122772 | CV3067376 | single nucleotide variant | NM_033022.4(RPS24):c.21C>A (p.Ile7=) | Diamond-Blackfan anemia [RCV003617271] | likely benign | 10 | 78035369 | 78035369 | Human | 2 | name |
| 15161866 | CV687674 | single nucleotide variant | NM_033022.4(RPS24):c.12C>T (p.Thr4=) | Diamond-Blackfan anemia [RCV001397895] | likely benign | 10 | 78035360 | 78035360 | Human | 2 | name |
| 127304688 | CV1120762 | single nucleotide variant | NM_033022.4(RPS24):c.90C>T (p.Pro30=) | Diamond-Blackfan anemia [RCV001455032] | likely benign | 10 | 78035531 | 78035531 | Human | 2 | name |
| 151356334 | CV1329098 | single nucleotide variant | NM_033022.4(RPS24):c.49C>T (p.Leu17=) | not specified [RCV001822687] | uncertain significance | 10 | 78035397 | 78035397 | Human | | name |
| 151793535 | CV1399282 | single nucleotide variant | NM_033022.4(RPS24):c.7G>A (p.Asp3Asn) | Diamond-Blackfan anemia [RCV001908594] | uncertain significance | 10 | 78035355 | 78035355 | Human | 2 | name |
| 152160560 | CV1530811 | deletion | NM_033022.4(RPS24):c.279+20_279+27del | Diamond-Blackfan anemia [RCV002123113] | likely benign | 10 | 78035739 | 78035746 | Human | 2 | name |
| 152059969 | CV1559121 | single nucleotide variant | NM_033022.4(RPS24):c.99G>A (p.Ala33=) | Diamond-Blackfan anemia [RCV002167881] | likely benign | 10 | 78035540 | 78035540 | Human | 2 | name |
| 152040488 | CV1644607 | single nucleotide variant | NM_033022.4(RPS24):c.60G>A (p.Arg20=) | Diamond-Blackfan anemia [RCV002165616] | likely benign | 10 | 78035408 | 78035408 | Human | 2 | name |
| 153345619 | CV1691205 | single nucleotide variant | NM_033022.4(RPS24):c.3G>A (p.Met1Ile) | Diamond-Blackfan anemia 3 [RCV002272686] | uncertain significance | 10 | 78033904 | 78033904 | Human | 1 | name |
| 155667101 | CV1855943 | single nucleotide variant | NM_033022.4(RPS24):c.2T>C (p.Met1Thr) | Diamond-Blackfan anemia [RCV002435644] | pathogenic | 10 | 78033903 | 78033903 | Human | 2 | name |
| 156400439 | CV1981811 | single nucleotide variant | NM_033022.4(RPS24):c.81C>A (p.Val27=) | Diamond-Blackfan anemia [RCV002605550] | likely benign | 10 | 78035522 | 78035522 | Human | 2 | name |
| 11560092 | CV259941 | single nucleotide variant | NM_033022.4(RPS24):c.1A>G (p.Met1Val) | Diamond-Blackfan anemia [RCV000551919]|not provided [RCV000255670] | pathogenic|likely pathogenic | 10 | 78033902 | 78033902 | Human | 2 | name |
| 405113190 | CV2943984 | deletion | NM_033022.4(RPS24):c.279+14_279+18del | Diamond-Blackfan anemia [RCV003615996] | likely benign | 10 | 78035731 | 78035735 | Human | 2 | name |
| 11659199 | CV323402 | deletion | NM_033022.4(RPS24):c.280-11_280-10del | Diamond-Blackfan anemia [RCV000355886] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 78037181 | 78037182 | Human | 2 | name |
| 127262388 | CV1099191 | single nucleotide variant | NM_033022.4(RPS24):c.276A>T (p.Ala92=) | Diamond-Blackfan anemia [RCV001438935] | likely benign | 10 | 78035717 | 78035717 | Human | 2 | name |
| 151805186 | CV1474523 | single nucleotide variant | NM_033022.4(RPS24):c.23G>A (p.Arg8His) | Diamond-Blackfan anemia 3 [RCV005042512]|Diamond-Blackfan anemia [RCV001930702] | uncertain significance | 10 | 78035371 | 78035371 | Human | 3 | name |
| 152094831 | CV1533861 | single nucleotide variant | NM_033022.4(RPS24):c.156G>T (p.Pro52=) | Diamond-Blackfan anemia [RCV002151060] | likely benign | 10 | 78035597 | 78035597 | Human | 2 | name |
| 152125450 | CV1580840 | single nucleotide variant | NM_033022.4(RPS24):c.234C>T (p.Ser78=) | Diamond-Blackfan anemia [RCV002082150] | likely benign | 10 | 78035675 | 78035675 | Human | 2 | name |
| 152030610 | CV1660673 | single nucleotide variant | NM_033022.4(RPS24):c.264A>G (p.Lys88=) | Diamond-Blackfan anemia [RCV002105964] | likely benign | 10 | 78035705 | 78035705 | Human | 2 | name |
| 156200419 | CV1928955 | single nucleotide variant | NM_033022.4(RPS24):c.277A>C (p.Arg93=) | Diamond-Blackfan anemia [RCV002643614] | likely benign | 10 | 78035718 | 78035718 | Human | 2 | name |
| 405122043 | CV3054750 | single nucleotide variant | NM_033022.4(RPS24):c.255T>C (p.Asn85=) | Diamond-Blackfan anemia [RCV003617175] | likely benign | 10 | 78035696 | 78035696 | Human | 2 | name |
| 405110802 | CV3061183 | single nucleotide variant | NM_033022.4(RPS24):c.171A>T (p.Val57=) | Diamond-Blackfan anemia [RCV003615545] | likely benign | 10 | 78035612 | 78035612 | Human | 2 | name |
| 405206178 | CV3161947 | single nucleotide variant | NM_033022.4(RPS24):c.156G>A (p.Pro52=) | Diamond-Blackfan anemia [RCV003861441] | likely benign | 10 | 78035597 | 78035597 | Human | 2 | name |
| 11603549 | CV316666 | single nucleotide variant | NM_033022.4(RPS24):c.235C>T (p.Leu79=) | Diamond-Blackfan anemia 3 [RCV001093982]|Diamond-Blackfan anemia [RCV000300971]|RPS24-related disorder [RCV003910099]|not specified [RCV001820876] | benign|likely benign | 10 | 78035676 | 78035676 | Human | 4 | name , trait , alternate_id |
| 11611888 | CV322688 | single nucleotide variant | NM_033022.4(RPS24):c.177A>G (p.Gly59=) | Diamond-Blackfan anemia 3 [RCV001093981]|Diamond-Blackfan anemia [RCV000400995]|RPS24-related disorder [RCV003897685]|not provided [RCV001705447] | benign|likely benign|conflicting interpretations of pathogenicity | 10 | 78035618 | 78035618 | Human | 4 | name , trait , alternate_id |
| 11607285 | CV323397 | single nucleotide variant | NM_033022.4(RPS24):c.168T>C (p.Phe56=) | Diamond-Blackfan anemia 3 [RCV001093980]|Diamond-Blackfan anemia [RCV000341734]|not provided [RCV003417978]|not specified [RCV001820875] | benign|likely benign | 10 | 78035609 | 78035609 | Human | 3 | name |
| 597656222 | CV3726520 | single nucleotide variant | NM_033022.4(RPS24):c.11C>T (p.Thr4Ile) | Diamond-Blackfan anemia 3 [RCV005041638] | uncertain significance | 10 | 78035359 | 78035359 | Human | 1 | name |
| 597960835 | CV3756309 | single nucleotide variant | NM_033022.4(RPS24):c.11C>A (p.Thr4Asn) | Diamond-Blackfan anemia [RCV005081626] | uncertain significance | 10 | 78035359 | 78035359 | Human | 2 | name |
| 13216424 | CV429130 | single nucleotide variant | NM_033022.4(RPS24):c.189T>C (p.His63=) | Diamond-Blackfan anemia [RCV000638829]|RPS24-related disorder [RCV003902793]|not specified [RCV000503744] | likely benign|uncertain significance | 10 | 78035630 | 78035630 | Human | 4 | name , trait , alternate_id |
| 13487609 | CV444660 | single nucleotide variant | NM_033022.4(RPS24):c.20T>G (p.Ile7Ser) | Diamond-Blackfan anemia [RCV003615846]|not provided [RCV000523287] | uncertain significance | 10 | 78035368 | 78035368 | Human | 2 | name |
| 15116977 | CV692890 | single nucleotide variant | NM_033022.4(RPS24):c.165C>T (p.Ile55=) | Diamond-Blackfan anemia [RCV001422833] | likely benign | 10 | 78035606 | 78035606 | Human | 2 | name |
| 15118257 | CV692891 | single nucleotide variant | NM_033022.4(RPS24):c.246A>C (p.Ala82=) | Diamond-Blackfan anemia [RCV002539171] | likely benign | 10 | 78035687 | 78035687 | Human | 2 | name |
| 15141173 | CV783751 | single nucleotide variant | NM_033022.4(RPS24):c.297G>A (p.Lys99=) | Diamond-Blackfan anemia [RCV001490188] | likely benign | 10 | 78037211 | 78037211 | Human | 2 | name |
| 126735853 | CV1009213 | single nucleotide variant | NM_033022.4(RPS24):c.82C>G (p.Leu28Val) | Diamond-Blackfan anemia [RCV001324577]|not provided [RCV001797171] | uncertain significance | 10 | 78035523 | 78035523 | Human | 2 | name |
| 127231371 | CV1077528 | single nucleotide variant | NM_033022.4(RPS24):c.324G>A (p.Lys108=) | Diamond-Blackfan anemia [RCV001413077] | likely benign | 10 | 78037238 | 78037238 | Human | 2 | name |
| 127328362 | CV1151155 | deletion | NM_033022.4(RPS24):c.157del (p.Asp53fs) | Diamond-Blackfan anemia 3 [RCV001507086] | likely pathogenic | 10 | 78035597 | 78035597 | Human | 1 | name |
| 127293103 | CV1156486 | single nucleotide variant | NM_033022.4(RPS24):c.306C>T (p.Thr102=) | Diamond-Blackfan anemia 3 [RCV002476812]|Diamond-Blackfan anemia [RCV001511170] | benign|likely benign | 10 | 78037220 | 78037220 | Human | 3 | name |
| 151235950 | CV1319378 | single nucleotide variant | NM_033022.4(RPS24):c.82C>T (p.Leu28Phe) | Diamond-Blackfan anemia [RCV003615880]|not provided [RCV001797323] | uncertain significance | 10 | 78035523 | 78035523 | Human | 2 | name |
| 151712079 | CV1455235 | single nucleotide variant | NM_033022.4(RPS24):c.47G>C (p.Arg16Pro) | Diamond-Blackfan anemia [RCV002005693] | uncertain significance | 10 | 78035395 | 78035395 | Human | 2 | name |
| 156118003 | CV1877538 | single nucleotide variant | NM_033022.4(RPS24):c.384C>G (p.Gly128=) | Diamond-Blackfan anemia [RCV003081316] | likely benign | 10 | 78037298 | 78037298 | Human | 2 | name |
| 156003766 | CV2064627 | single nucleotide variant | NM_033022.4(RPS24):c.47G>T (p.Arg16Leu) | Diamond-Blackfan anemia [RCV002843531] | uncertain significance | 10 | 78035395 | 78035395 | Human | 2 | name |
| 155947605 | CV2108162 | single nucleotide variant | NM_033022.4(RPS24):c.372T>C (p.Asn124=) | Diamond-Blackfan anemia [RCV002904867] | likely benign | 10 | 78037286 | 78037286 | Human | 2 | name |
| 8559780 | CV22285 | single nucleotide variant | NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) | Diamond-Blackfan anemia 3 [RCV000007668]|Diamond-Blackfan anemia [RCV000638824]|not provided [RCV004595876] | pathogenic | 10 | 78035394 | 78035394 | Human | 3 | name |
| 329954544 | CV2669543 | deletion | NM_033022.4(RPS24):c.273del (p.Ala92fs) | Diamond-Blackfan anemia 3 [RCV003232044] | likely pathogenic | 10 | 78035713 | 78035713 | Human | 1 | name |
| 402492023 | CV2931087 | single nucleotide variant | NM_033022.4(RPS24):c.348A>G (p.Lys116=) | Diamond-Blackfan anemia 3 [RCV005392647]|Diamond-Blackfan anemia [RCV003507739] | uncertain significance | 10 | 78037262 | 78037262 | Human | 3 | name |
| 405118167 | CV3011630 | single nucleotide variant | NM_033022.4(RPS24):c.97G>T (p.Ala33Ser) | Diamond-Blackfan anemia [RCV003616691] | uncertain significance | 10 | 78035538 | 78035538 | Human | 2 | name |
| 405226083 | CV3142468 | single nucleotide variant | NM_033022.4(RPS24):c.366G>A (p.Lys122=) | Diamond-Blackfan anemia [RCV003848007] | likely benign | 10 | 78037280 | 78037280 | Human | 2 | name |
| 11600629 | CV322695 | single nucleotide variant | NM_033022.4(RPS24):c.333G>A (p.Lys111=) | Diamond-Blackfan anemia 3 [RCV000275227]|Diamond-Blackfan anemia [RCV001479472] | likely benign|uncertain significance | 10 | 78037247 | 78037247 | Human | 3 | name |
| 597850802 | CV3785363 | single nucleotide variant | NM_033022.4(RPS24):c.38T>G (p.Met13Arg) | Diamond-Blackfan anemia [RCV005125949] | uncertain significance | 10 | 78035386 | 78035386 | Human | 2 | name |
| 598125211 | CV3881498 | single nucleotide variant | NM_033022.4(RPS24):c.64C>T (p.Gln22Ter) | not provided [RCV005232404] | likely pathogenic | 10 | 78035412 | 78035412 | Human | | name |
| 12882032 | CV397422 | single nucleotide variant | NM_033022.4(RPS24):c.363A>G (p.Ala121=) | Diamond-Blackfan anemia 3 [RCV002489129]|Diamond-Blackfan anemia [RCV000458897]|RPS24-related disorder [RCV003960100] | benign | 10 | 78037277 | 78037277 | Human | 4 | name , trait , alternate_id |
| 14713456 | CV639181 | single nucleotide variant | NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) | Diamond-Blackfan anemia 3 [RCV002501145]|Diamond-Blackfan anemia [RCV000823564] | uncertain significance | 10 | 78035532 | 78035532 | Human | 3 | name |
| 15117068 | CV684197 | single nucleotide variant | NM_033022.4(RPS24):c.378T>G (p.Gly126=) | Diamond-Blackfan anemia 3 [RCV002495215]|Diamond-Blackfan anemia [RCV000861061] | benign|likely benign | 10 | 78037292 | 78037292 | Human | 3 | name |
| 126727338 | CV1009214 | single nucleotide variant | NM_033022.4(RPS24):c.122G>A (p.Arg41Gln) | Diamond-Blackfan anemia 3 [RCV005040166]|Diamond-Blackfan anemia [RCV001312251] | uncertain significance | 10 | 78035563 | 78035563 | Human | 3 | name |
| 150336750 | CV1165955 | single nucleotide variant | NM_033022.4(RPS24):c.262A>G (p.Lys88Glu) | not provided [RCV001532126] | uncertain significance | 10 | 78035703 | 78035703 | Human | | name |
| 150551950 | CV1300781 | single nucleotide variant | NM_033022.4(RPS24):c.174T>G (p.Phe58Leu) | not provided [RCV001754641] | uncertain significance | 10 | 78035615 | 78035615 | Human | | name |
| 155803910 | CV1858478 | single nucleotide variant | NM_033022.4(RPS24):c.178T>A (p.Phe60Ile) | not provided [RCV002462788] | uncertain significance | 10 | 78035619 | 78035619 | Human | | name |
| 156280189 | CV2042773 | single nucleotide variant | NM_033022.4(RPS24):c.275C>A (p.Ala92Glu) | Diamond-Blackfan anemia [RCV002770356] | uncertain significance | 10 | 78035716 | 78035716 | Human | 2 | name |
| 156161447 | CV2074302 | single nucleotide variant | NM_033022.4(RPS24):c.155C>A (p.Pro52Gln) | Diamond-Blackfan anemia [RCV002851225] | uncertain significance | 10 | 78035596 | 78035596 | Human | 2 | name |
| 156206105 | CV2092727 | single nucleotide variant | NM_033022.4(RPS24):c.278G>A (p.Arg93Lys) | Diamond-Blackfan anemia [RCV002917973] | uncertain significance | 10 | 78035719 | 78035719 | Human | 2 | name |
| 243060235 | CV2410729 | single nucleotide variant | NM_033022.4(RPS24):c.149C>G (p.Thr50Ser) | Diamond-Blackfan anemia 3 [RCV003135803] | uncertain significance | 10 | 78035590 | 78035590 | Human | 1 | name |
| 401855219 | CV2752819 | single nucleotide variant | NM_033022.4(RPS24):c.155C>T (p.Pro52Leu) | Diamond-Blackfan anemia 3 [RCV003337873] | uncertain significance | 10 | 78035596 | 78035596 | Human | 1 | name |
| 402490851 | CV2858627 | single nucleotide variant | NM_033022.4(RPS24):c.292G>T (p.Glu98Ter) | Diamond-Blackfan anemia [RCV003507638] | pathogenic | 10 | 78037206 | 78037206 | Human | 2 | name |
| 402498282 | CV2870120 | single nucleotide variant | NM_033022.4(RPS24):c.280C>T (p.His94Tyr) | Diamond-Blackfan anemia [RCV003508431] | uncertain significance | 10 | 78037194 | 78037194 | Human | 2 | name |
| 402500149 | CV2882700 | single nucleotide variant | NM_033022.4(RPS24):c.240T>G (p.Asp80Glu) | Diamond-Blackfan anemia [RCV003508627] | uncertain significance | 10 | 78035681 | 78035681 | Human | 2 | name |
| 402484021 | CV2906685 | single nucleotide variant | NM_033022.4(RPS24):c.160G>A (p.Val54Ile) | Diamond-Blackfan anemia [RCV003506794] | uncertain significance | 10 | 78035601 | 78035601 | Human | 2 | name |
| 402485749 | CV2912834 | single nucleotide variant | NM_033022.4(RPS24):c.172T>C (p.Phe58Leu) | Diamond-Blackfan anemia [RCV003506961] | uncertain significance | 10 | 78035613 | 78035613 | Human | 2 | name |
| 402487870 | CV2924557 | single nucleotide variant | NM_033022.4(RPS24):c.158A>T (p.Asp53Val) | Diamond-Blackfan anemia [RCV003507191] | uncertain significance | 10 | 78035599 | 78035599 | Human | 2 | name |
| 405121285 | CV3036890 | single nucleotide variant | NM_033022.4(RPS24):c.271C>G (p.Leu91Val) | Diamond-Blackfan anemia [RCV003617083] | uncertain significance | 10 | 78035712 | 78035712 | Human | 2 | name |
| 405122746 | CV3067187 | single nucleotide variant | NM_033022.4(RPS24):c.297G>C (p.Lys99Asn) | Diamond-Blackfan anemia [RCV003617268] | uncertain significance | 10 | 78037211 | 78037211 | Human | 2 | name |
| 408391634 | CV3523289 | single nucleotide variant | NM_033022.4(RPS24):c.269G>C (p.Arg90Thr) | not provided [RCV004770662] | uncertain significance | 10 | 78035710 | 78035710 | Human | | name |
| 597656321 | CV3726521 | single nucleotide variant | NM_033022.4(RPS24):c.220A>G (p.Met74Val) | Diamond-Blackfan anemia 3 [RCV005041650] | uncertain significance | 10 | 78035661 | 78035661 | Human | 1 | name |
| 597656371 | CV3726522 | single nucleotide variant | NM_033022.4(RPS24):c.248A>G (p.Lys83Arg) | Diamond-Blackfan anemia 3 [RCV005041656] | uncertain significance | 10 | 78035689 | 78035689 | Human | 1 | name |
| 597656416 | CV3726523 | single nucleotide variant | NM_033022.4(RPS24):c.260C>T (p.Pro87Leu) | Diamond-Blackfan anemia 3 [RCV005041661] | uncertain significance | 10 | 78035701 | 78035701 | Human | 1 | name |
| 597903700 | CV3834142 | single nucleotide variant | NM_033022.4(RPS24):c.121C>T (p.Arg41Trp) | Diamond-Blackfan anemia [RCV005178461] | uncertain significance | 10 | 78035562 | 78035562 | Human | 2 | name |
| 598126283 | CV3886180 | single nucleotide variant | NM_033022.4(RPS24):c.100A>G (p.Thr34Ala) | not provided [RCV005241983] | uncertain significance | 10 | 78035541 | 78035541 | Human | | name |
| 13705916 | CV540530 | single nucleotide variant | NM_033022.4(RPS24):c.148A>C (p.Thr50Pro) | Diamond-Blackfan anemia 3 [RCV000664315] | pathogenic | 10 | 78035589 | 78035589 | Human | 1 | name |
| 14712415 | CV639180 | deletion | NM_033022.4(RPS24):c.13_14del (p.Val5fs) | Diamond-Blackfan anemia [RCV000820617] | pathogenic | 10 | 78035361 | 78035362 | Human | 2 | name |
| 155726173 | CV1811876 | deletion | NM_033022.4(RPS24):c.66_67del (p.Gln22fs) | Diamond-Blackfan anemia [RCV002364567] | pathogenic | 10 | 78035413 | 78035414 | Human | 2 | name |
| 156033141 | CV1932496 | single nucleotide variant | NM_033022.4(RPS24):c.320G>A (p.Arg107Gln) | Diamond-Blackfan anemia [RCV002637254] | uncertain significance | 10 | 78037234 | 78037234 | Human | 2 | name |
| 8559779 | CV22284 | single nucleotide variant | NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) | Diamond-Blackfan anemia 3 [RCV000007667] | pathogenic | 10 | 78037230 | 78037230 | Human | 1 | name |
| 11350485 | CV240848 | single nucleotide variant | NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) | Diamond-Blackfan anemia 3 [RCV001093983]|Diamond-Blackfan anemia [RCV000229998]|RPS24-related disorder [RCV003977688]|not specified [RCV001820770] | benign|likely benign | 10 | 78037285 | 78037285 | Human | 4 | name , trait , alternate_id |
| 597656987 | CV3726524 | single nucleotide variant | NM_033022.4(RPS24):c.350T>C (p.Val117Ala) | Diamond-Blackfan anemia 3 [RCV005041667] | uncertain significance | 10 | 78037264 | 78037264 | Human | 1 | name |
| 8626856 | CV82000 | single nucleotide variant | NM_001142284.1(RPS24):c.249G>A (p.Lys83=) | Malignant melanoma [RCV000062079] | not provided | 10 | 78035690 | 78035690 | Human | | name |
| 405271923 | CV3201595 | single nucleotide variant | NM_001142285.2(RPS24):c.468G>A (p.Ser156=) | RPS24-related disorder [RCV003899506] | likely benign | 10 | 78054608 | 78054608 | Human | | name , trait , alternate_id |
| 405277962 | CV3212589 | single nucleotide variant | NM_001142285.2(RPS24):c.624G>A (p.Ala208=) | RPS24-related disorder [RCV003959156] | likely benign | 10 | 78054764 | 78054764 | Human | | name , trait , alternate_id |
| 596939889 | CV3550667 | single nucleotide variant | NM_001142285.2(RPS24):c.660C>T (p.Ala220=) | not provided [RCV004814567] | uncertain significance | 10 | 78054800 | 78054800 | Human | | name |
| 126910184 | CV1037988 | single nucleotide variant | NM_001142285.2(RPS24):c.526G>A (p.Val176Met) | Diamond-Blackfan anemia 3 [RCV002504571]|not provided [RCV001354430] | uncertain significance | 10 | 78054666 | 78054666 | Human | 1 | name |
| 151232588 | CV1317606 | single nucleotide variant | NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala) | Diamond-Blackfan anemia 3 [RCV001788986] | uncertain significance | 10 | 78054939 | 78054939 | Human | 1 | name |
| 155794638 | CV1857800 | single nucleotide variant | NM_001142285.2(RPS24):c.634G>A (p.Glu212Lys) | not provided [RCV002461650] | uncertain significance | 10 | 78054774 | 78054774 | Human | | name |
| 329351436 | CV2478062 | single nucleotide variant | NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp) | Diamond-Blackfan anemia 3 [RCV003224728] | likely benign | 10 | 78054624 | 78054624 | Human | 1 | name |
| 401903253 | CV2797829 | single nucleotide variant | NM_001142285.2(RPS24):c.814C>T (p.His272Tyr) | RPS24-related disorder [RCV003410723] | uncertain significance | 10 | 78054954 | 78054954 | Human | | name , trait , alternate_id |
| 401902783 | CV2799343 | single nucleotide variant | NM_001142285.2(RPS24):c.835T>G (p.Ser279Ala) | RPS24-related disorder [RCV003400459] | uncertain significance | 10 | 78054975 | 78054975 | Human | | name , trait , alternate_id |
| 401904215 | CV2799752 | single nucleotide variant | NM_001142285.2(RPS24):c.734C>T (p.Pro245Leu) | RPS24-related disorder [RCV003419123] | uncertain significance | 10 | 78054874 | 78054874 | Human | | name , trait , alternate_id |
| 401903394 | CV2802788 | single nucleotide variant | NM_001142285.2(RPS24):c.428G>A (p.Arg143Lys) | RPS24-related disorder [RCV003412150] | uncertain significance | 10 | 78054568 | 78054568 | Human | | name , trait , alternate_id |
| 401902454 | CV2803573 | single nucleotide variant | NM_001142285.2(RPS24):c.629T>C (p.Leu210Pro) | RPS24-related disorder [RCV003391432] | uncertain significance | 10 | 78054769 | 78054769 | Human | | name , trait , alternate_id |
| 405270129 | CV3185647 | single nucleotide variant | NM_001142285.2(RPS24):c.668C>T (p.Ser223Leu) | RPS24-related disorder [RCV003949096]|not provided [RCV003886211] | likely benign | 10 | 78054808 | 78054808 | Human | 1 | name , trait , alternate_id |
| 408379890 | CV3512520 | single nucleotide variant | NM_001142285.2(RPS24):c.422T>C (p.Leu141Ser) | RPS24-related disorder [RCV004752247] | uncertain significance | 10 | 78054562 | 78054562 | Human | | name , trait , alternate_id |
| 408379896 | CV3516676 | single nucleotide variant | NM_001142285.2(RPS24):c.803T>C (p.Phe268Ser) | RPS24-related disorder [RCV004752465] | uncertain significance | 10 | 78054943 | 78054943 | Human | | name , trait , alternate_id |
| 408380707 | CV3519381 | single nucleotide variant | NM_001142285.2(RPS24):c.625T>A (p.Cys209Ser) | not provided [RCV004762690] | uncertain significance | 10 | 78054765 | 78054765 | Human | | name |
| 408381916 | CV3526643 | single nucleotide variant | NM_001142285.2(RPS24):c.838C>G (p.Pro280Ala) | not provided [RCV004771956] | uncertain significance | 10 | 78054978 | 78054978 | Human | | name |
| 597707000 | CV3726525 | single nucleotide variant | NM_001142285.2(RPS24):c.698C>T (p.Pro233Leu) | Diamond-Blackfan anemia 3 [RCV005041673] | uncertain significance | 10 | 78054838 | 78054838 | Human | 1 | name |
| 597707021 | CV3726527 | single nucleotide variant | NM_001142285.2(RPS24):c.712G>A (p.Gly238Ser) | Diamond-Blackfan anemia 3 [RCV005041684] | uncertain significance | 10 | 78054852 | 78054852 | Human | 1 | name |
| 597841700 | CV3735392 | single nucleotide variant | NM_001142285.2(RPS24):c.655G>A (p.Gly219Arg) | Diamond-Blackfan anemia 3 [RCV005055309] | uncertain significance | 10 | 78054795 | 78054795 | Human | 1 | name |
| 14349860 | CV590785 | single nucleotide variant | NM_001142285.2(RPS24):c.472G>T (p.Ala158Ser) | not specified [RCV000736103] | likely benign | 10 | 78054612 | 78054612 | Human | | name |
| 14696514 | CV622107 | single nucleotide variant | NM_001142285.2(RPS24):c.820G>T (p.Glu274Ter) | not provided [RCV000782199] | uncertain significance | 10 | 78054960 | 78054960 | Human | | name |
| 40888218 | CV961957 | single nucleotide variant | NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) | Diamond-Blackfan anemia 3 [RCV001267791] | likely benign | 10 | 78054968 | 78054968 | Human | 1 | name |
| 42723017 | CV985273 | single nucleotide variant | NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) | Diamond-Blackfan anemia 3 [RCV001293006] | uncertain significance | 10 | 78054549 | 78054549 | Human | 1 | name |
| 42722838 | CV985274 | single nucleotide variant | NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) | Diamond-Blackfan anemia 3 [RCV001292800] | uncertain significance | 10 | 78054579 | 78054579 | Human | 1 | name |
| 126730191 | CV986007 | single nucleotide variant | NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) | Diamond-Blackfan anemia 3 [RCV001294076] | uncertain significance | 10 | 78054799 | 78054799 | Human | 1 | name |
| 126730195 | CV986008 | single nucleotide variant | NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu) | Diamond-Blackfan anemia 3 [RCV001294077] | uncertain significance | 10 | 78054951 | 78054951 | Human | 1 | name |
| 126732326 | CV1029779 | deletion | NM_033022.4(RPS24):c.352_354del (p.Arg118del) | Diamond-Blackfan anemia [RCV001349581] | uncertain significance | 10 | 78037266 | 78037268 | Human | 2 | name |
| 597707010 | CV3726526 | inversion | NM_001142285.2(RPS24):c.700_701inv (p.His234Cys) | Diamond-Blackfan anemia 3 [RCV005041677] | uncertain significance | 10 | 78054840 | 78054841 | Human | | name |
| 243057209 | CV2415595 | deletion | NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer) | Diamond-Blackfan anemia 3 [RCV003148195] | uncertain significance | 10 | 78054661 | 78054661 | Human | 1 | name |
| 155714848 | CV1820880 | deletion | NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu) | Diamond-Blackfan anemia [RCV002447995] | uncertain significance | 10 | 78035527 | 78035544 | Human | 2 | name |
| 13832279 | CV582772 | deletion | NM_001142285.2(RPS24):c.508_516del (p.Val170_Gly172del) | not provided [RCV000722965] | uncertain significance | 10 | 78054647 | 78054655 | Human | | name |
| 8559781 | CV22286 | indel | NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) | Diamond-Blackfan anemia 3 [RCV000007669] | pathogenic | 10 | 78035352 | 78035354 | Human | | name |