| 155911927 | CV2021703 | single nucleotide variant | NM_016070.4(MRPS23):c.421-8C>A | not provided [RCV002726870] | likely benign | 17 | 57839943 | 57839943 | Human | | name |
| 156103118 | CV2180198 | single nucleotide variant | NM_016070.4(MRPS23):c.44+14G>C | not provided [RCV003054797] | likely benign | 17 | 57849953 | 57849953 | Human | | name |
| 405151189 | CV2956975 | single nucleotide variant | NM_016070.4(MRPS23):c.45-19G>A | not provided [RCV003670005] | likely benign | 17 | 57849429 | 57849429 | Human | | name |
| 405145107 | CV3141414 | single nucleotide variant | NM_016070.4(MRPS23):c.44+20G>A | not provided [RCV003839530] | likely benign | 17 | 57849947 | 57849947 | Human | | name |
| 152157352 | CV1629857 | single nucleotide variant | NM_016070.4(MRPS23):c.215+14C>T | not provided [RCV002202823] | likely benign | 17 | 57849226 | 57849226 | Human | | name |
| 152134726 | CV1634320 | single nucleotide variant | NM_016070.4(MRPS23):c.215+12G>C | not provided [RCV002218558] | benign | 17 | 57849228 | 57849228 | Human | | name |
| 156230371 | CV2115572 | single nucleotide variant | NM_016070.4(MRPS23):c.420+20A>G | not provided [RCV002932805] | likely benign|uncertain significance | 17 | 57840906 | 57840906 | Human | | name |
| 156107666 | CV1953890 | single nucleotide variant | NM_016070.4(MRPS23):c.6A>C (p.Ala2=) | not provided [RCV002571080] | likely benign | 17 | 57850005 | 57850005 | Human | | name |
| 156274158 | CV1971074 | single nucleotide variant | NM_016070.4(MRPS23):c.6A>G (p.Ala2=) | not provided [RCV002598189] | likely benign | 17 | 57850005 | 57850005 | Human | | name |
| 151857962 | CV1347538 | single nucleotide variant | NM_016070.4(MRPS23):c.16C>T (p.Leu6=) | not provided [RCV002034012] | likely benign|uncertain significance | 17 | 57849995 | 57849995 | Human | | name |
| 152116643 | CV1569675 | single nucleotide variant | NM_016070.4(MRPS23):c.51G>A (p.Arg17=) | not provided [RCV002117281] | likely benign | 17 | 57849404 | 57849404 | Human | | name |
| 152144560 | CV1576461 | single nucleotide variant | NM_016070.4(MRPS23):c.36C>T (p.Ile12=) | MRPS23-related disorder [RCV003968884]|not provided [RCV002101260] | likely benign | 17 | 57849975 | 57849975 | Human | 1 | name , trait , alternate_id |
| 152131852 | CV1631189 | single nucleotide variant | NM_016070.4(MRPS23):c.63G>T (p.Arg21=) | MRPS23-related disorder [RCV003951210]|not provided [RCV002119188] | likely benign | 17 | 57849392 | 57849392 | Human | 1 | name , trait , alternate_id |
| 405242633 | CV2967255 | deletion | NM_016070.4(MRPS23):c.420+11_420+14del | not provided [RCV003684329] | likely benign | 17 | 57840912 | 57840915 | Human | | name |
| 152151404 | CV1578141 | single nucleotide variant | NM_016070.4(MRPS23):c.285C>T (p.Thr95=) | not provided [RCV002158249] | likely benign | 17 | 57841191 | 57841191 | Human | | name |
| 156387771 | CV1888193 | single nucleotide variant | NM_016070.4(MRPS23):c.132C>G (p.Pro44=) | not provided [RCV003067703] | benign | 17 | 57849323 | 57849323 | Human | | name |
| 156331915 | CV2075824 | single nucleotide variant | NM_016070.4(MRPS23):c.156A>G (p.Arg52=) | not provided [RCV002835345] | likely benign | 17 | 57849299 | 57849299 | Human | | name |
| 404981493 | CV3121087 | single nucleotide variant | NM_016070.4(MRPS23):c.207G>T (p.Arg69=) | not provided [RCV003826079] | likely benign | 17 | 57849248 | 57849248 | Human | | name |
| 405291693 | CV3205956 | single nucleotide variant | NM_016070.4(MRPS23):c.111C>T (p.Ala37=) | MRPS23-related disorder [RCV003964060]|not provided [RCV005064887] | likely benign | 17 | 57849344 | 57849344 | Human | 1 | name , trait , alternate_id |
| 597948447 | CV3800963 | single nucleotide variant | NM_016070.4(MRPS23):c.294G>A (p.Arg98=) | not provided [RCV005135363] | uncertain significance | 17 | 57841052 | 57841052 | Human | | name |
| 151762059 | CV1455975 | single nucleotide variant | NM_016070.4(MRPS23):c.41C>T (p.Ser14Phe) | not provided [RCV002044396]|not specified [RCV004038806] | uncertain significance | 17 | 57849970 | 57849970 | Human | | name |
| 152035894 | CV1604317 | single nucleotide variant | NM_016070.4(MRPS23):c.408C>T (p.Gly136=) | not provided [RCV002087195] | benign | 17 | 57840938 | 57840938 | Human | | name |
| 156161724 | CV1906957 | single nucleotide variant | NM_016070.4(MRPS23):c.37T>A (p.Phe13Ile) | not provided [RCV003082920] | uncertain significance | 17 | 57849974 | 57849974 | Human | | name |
| 156103077 | CV2291562 | single nucleotide variant | NM_016070.4(MRPS23):c.61C>G (p.Arg21Gly) | not specified [RCV004155864] | uncertain significance | 17 | 57849394 | 57849394 | Human | | name |
| 405237966 | CV2881160 | single nucleotide variant | NM_016070.4(MRPS23):c.480T>C (p.Thr160=) | MRPS23-related disorder [RCV003984382]|not provided [RCV003556662] | likely benign | 17 | 57839876 | 57839876 | Human | 1 | name , trait , alternate_id |
| 405244326 | CV3072183 | single nucleotide variant | NM_016070.4(MRPS23):c.438C>T (p.His146=) | not provided [RCV003737901] | likely benign | 17 | 57839918 | 57839918 | Human | | name |
| 402469660 | CV3174721 | single nucleotide variant | NM_016070.4(MRPS23):c.453C>T (p.Ser151=) | not provided [RCV003873831] | likely benign | 17 | 57839903 | 57839903 | Human | | name |
| 405259299 | CV3194655 | single nucleotide variant | NM_016070.4(MRPS23):c.540T>C (p.Pro180=) | MRPS23-related disorder [RCV003894048] | likely benign | 17 | 57839816 | 57839816 | Human | | name , trait , alternate_id |
| 405277489 | CV3195808 | single nucleotide variant | NM_016070.4(MRPS23):c.315G>A (p.Glu105=) | MRPS23-related disorder [RCV003904340]|not provided [RCV005101675] | likely benign | 17 | 57841031 | 57841031 | Human | 1 | name , trait , alternate_id |
| 405786640 | CV3374906 | single nucleotide variant | NM_016070.4(MRPS23):c.33C>A (p.Ser11Arg) | not specified [RCV004504945] | uncertain significance | 17 | 57849978 | 57849978 | Human | | name |
| 405872323 | CV3398375 | single nucleotide variant | NM_016070.4(MRPS23):c.549G>A (p.Gln183=) | not provided [RCV004575376] | likely benign | 17 | 57839807 | 57839807 | Human | | name |
| 597872248 | CV3747141 | single nucleotide variant | NM_016070.4(MRPS23):c.495C>T (p.Asn165=) | not provided [RCV005068825] | likely benign | 17 | 57839861 | 57839861 | Human | | name |
| 597870699 | CV3749948 | single nucleotide variant | NM_016070.4(MRPS23):c.474A>G (p.Pro158=) | not provided [RCV005068629] | likely benign | 17 | 57839882 | 57839882 | Human | | name |
| 15103132 | CV704248 | single nucleotide variant | NM_016070.4(MRPS23):c.426C>T (p.His142=) | not provided [RCV000959419] | benign|likely benign | 17 | 57839930 | 57839930 | Human | | name |
| 151832336 | CV1439150 | single nucleotide variant | NM_016070.4(MRPS23):c.292C>T (p.Arg98Trp) | not provided [RCV001976767]|not specified [RCV004042395] | uncertain significance | 17 | 57841184 | 57841184 | Human | | name |
| 151827116 | CV1447329 | single nucleotide variant | NM_016070.4(MRPS23):c.125G>A (p.Arg42Lys) | not provided [RCV001870168] | uncertain significance | 17 | 57849330 | 57849330 | Human | | name |
| 152036770 | CV1521760 | single nucleotide variant | NM_016070.4(MRPS23):c.176C>A (p.Pro59His) | not provided [RCV002187633] | benign | 17 | 57849279 | 57849279 | Human | | name |
| 156003697 | CV2074781 | single nucleotide variant | NM_016070.4(MRPS23):c.139C>G (p.Gln47Glu) | not provided [RCV002843528] | uncertain significance | 17 | 57849316 | 57849316 | Human | | name |
| 329375862 | CV2441168 | single nucleotide variant | NM_016070.4(MRPS23):c.205C>T (p.Arg69Trp) | not specified [RCV004263564] | uncertain significance | 17 | 57849250 | 57849250 | Human | | name |
| 401750337 | CV2715596 | single nucleotide variant | NM_016070.4(MRPS23):c.218A>G (p.Lys73Arg) | not specified [RCV004326986] | uncertain significance | 17 | 57841258 | 57841258 | Human | | name |
| 405218564 | CV2907307 | single nucleotide variant | NM_016070.4(MRPS23):c.166G>A (p.Ala56Thr) | not provided [RCV003567981] | likely benign | 17 | 57849289 | 57849289 | Human | | name |
| 407474762 | CV3450427 | single nucleotide variant | NM_016070.4(MRPS23):c.184G>A (p.Asp62Asn) | not specified [RCV004638237] | uncertain significance | 17 | 57849271 | 57849271 | Human | | name |
| 408367036 | CV3511351 | single nucleotide variant | NM_016070.4(MRPS23):c.241G>A (p.Gly81Ser) | MRPS23-related disorder [RCV004757728] | likely benign | 17 | 57841235 | 57841235 | Human | | name , trait , alternate_id |
| 597634476 | CV3557409 | single nucleotide variant | NM_016070.4(MRPS23):c.157T>C (p.Tyr53His) | not specified [RCV004830979] | uncertain significance | 17 | 57849298 | 57849298 | Human | | name |
| 597634480 | CV3557410 | single nucleotide variant | NM_016070.4(MRPS23):c.109G>A (p.Ala37Thr) | not specified [RCV004830980] | uncertain significance | 17 | 57849346 | 57849346 | Human | | name |
| 598213297 | CV3993516 | single nucleotide variant | NM_016070.4(MRPS23):c.118C>T (p.Pro40Ser) | not specified [RCV005378323] | uncertain significance | 17 | 57849337 | 57849337 | Human | | name |
| 598213305 | CV3993517 | single nucleotide variant | NM_016070.4(MRPS23):c.148C>G (p.Arg50Gly) | not specified [RCV005378324] | uncertain significance | 17 | 57849307 | 57849307 | Human | | name |
| 38457521 | CV962273 | single nucleotide variant | NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg) | Combined oxidative phosphorylation deficiency 46 [RCV001250729] | pathogenic | 17 | 57849336 | 57849336 | Human | 1 | name |
| 40886746 | CV974062 | single nucleotide variant | NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) | Combined oxidative phosphorylation deficiency 46 [RCV003135907]|Inborn genetic diseases [RCV001265976]|not provided [RCV003770385] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 57849336 | 57849336 | Human | 2 | name |
| 151856743 | CV1401928 | single nucleotide variant | NM_016070.4(MRPS23):c.438C>G (p.His146Gln) | not provided [RCV002017273] | uncertain significance | 17 | 57839918 | 57839918 | Human | | name |
| 151880817 | CV1421592 | single nucleotide variant | NM_016070.4(MRPS23):c.412G>A (p.Ala138Thr) | not provided [RCV001886453] | uncertain significance | 17 | 57840934 | 57840934 | Human | | name |
| 156165388 | CV1907708 | single nucleotide variant | NM_016070.4(MRPS23):c.400C>T (p.Arg134Ter) | not provided [RCV003083054] | uncertain significance | 17 | 57840946 | 57840946 | Human | | name |
| 156165545 | CV2196146 | single nucleotide variant | NM_016070.4(MRPS23):c.445C>T (p.Arg149Trp) | not specified [RCV004073506] | likely benign | 17 | 57839911 | 57839911 | Human | | name |
| 155981630 | CV2337068 | single nucleotide variant | NM_016070.4(MRPS23):c.539C>G (p.Pro180Arg) | not specified [RCV004192832] | uncertain significance | 17 | 57839817 | 57839817 | Human | | name |
| 329389985 | CV2457409 | single nucleotide variant | NM_016070.4(MRPS23):c.368A>G (p.Lys123Arg) | not specified [RCV004267237] | uncertain significance | 17 | 57840978 | 57840978 | Human | | name |
| 401762589 | CV2714201 | single nucleotide variant | NM_016070.4(MRPS23):c.486G>T (p.Leu162Phe) | not specified [RCV004317434] | uncertain significance | 17 | 57839870 | 57839870 | Human | | name |
| 405206742 | CV3120395 | single nucleotide variant | NM_016070.4(MRPS23):c.337G>T (p.Asp113Tyr) | not provided [RCV003822729] | uncertain significance | 17 | 57841009 | 57841009 | Human | | name |
| 405786670 | CV3374911 | single nucleotide variant | NM_016070.4(MRPS23):c.345G>T (p.Glu115Asp) | not specified [RCV004504950] | uncertain significance | 17 | 57841001 | 57841001 | Human | | name |
| 405786698 | CV3374917 | single nucleotide variant | NM_016070.4(MRPS23):c.416G>A (p.Arg139Lys) | not specified [RCV004504956] | uncertain significance | 17 | 57840930 | 57840930 | Human | | name |
| 405786714 | CV3374920 | single nucleotide variant | NM_016070.4(MRPS23):c.499A>G (p.Thr167Ala) | not specified [RCV004504959] | uncertain significance | 17 | 57839857 | 57839857 | Human | | name |
| 407474754 | CV3450425 | single nucleotide variant | NM_016070.4(MRPS23):c.439G>A (p.Val147Ile) | not specified [RCV004638235] | uncertain significance | 17 | 57839917 | 57839917 | Human | | name |
| 597634495 | CV3557413 | single nucleotide variant | NM_016070.4(MRPS23):c.431G>C (p.Gly144Ala) | not specified [RCV004830983] | uncertain significance | 17 | 57839925 | 57839925 | Human | | name |
| 156312908 | CV1896492 | indel | NM_016070.4(MRPS23):c.539_540delinsGG (p.Pro180Arg) | not provided [RCV003088554] | uncertain significance | 17 | 57839816 | 57839817 | Human | | name |