| 156289648 | CV2115165 | single nucleotide variant | NM_017686.4(GDAP2):c.1030+1G>T | not provided [RCV002922099] | likely pathogenic | 1 | 117887697 | 117887697 | Human | | name |
| 401928172 | CV2809111 | single nucleotide variant | NM_017686.4(GDAP2):c.1302+3A>G | GDAP2-related disorder [RCV003919072]|not provided [RCV003406709] | likely benign | 1 | 117881820 | 117881820 | Human | 1 | name , trait , alternate_id |
| 405700851 | CV3224926 | single nucleotide variant | NM_017686.4(GDAP2):c.1107+1G>T | Spinocerebellar ataxia, autosomal recessive 27 [RCV003989210] | likely pathogenic | 1 | 117886576 | 117886576 | Human | 1 | name |
| 405278426 | CV3221868 | single nucleotide variant | NM_017686.4(GDAP2):c.1303-10T>C | GDAP2-related disorder [RCV003976428] | benign | 1 | 117878162 | 117878162 | Human | | name , trait , alternate_id |
| 598244423 | CV3895666 | deletion | NM_017686.4(GDAP2):c.1446+40del | Spinocerebellar ataxia, autosomal recessive 27 [RCV005365673] | uncertain significance | 1 | 117877969 | 117877969 | Human | 1 | name |
| 405280673 | CV3195628 | single nucleotide variant | NM_017686.4(GDAP2):c.66A>G (p.Ser22=) | GDAP2-related disorder [RCV003906866] | benign | 1 | 117920292 | 117920292 | Human | | name , trait , alternate_id |
| 405275906 | CV3199494 | single nucleotide variant | NM_017686.4(GDAP2):c.264T>C (p.Ser88=) | GDAP2-related disorder [RCV003916893] | benign | 1 | 117918649 | 117918649 | Human | | name , trait , alternate_id |
| 156289669 | CV2333195 | single nucleotide variant | NM_017686.4(GDAP2):c.68G>A (p.Cys23Tyr) | not specified [RCV004194483] | uncertain significance | 1 | 117920290 | 117920290 | Human | | name |
| 156106905 | CV2387105 | single nucleotide variant | NM_017686.4(GDAP2):c.40G>A (p.Asp14Asn) | not specified [RCV004226841] | uncertain significance | 1 | 117920318 | 117920318 | Human | | name |
| 405267530 | CV3186851 | single nucleotide variant | NM_017686.4(GDAP2):c.339A>G (p.Lys113=) | not provided [RCV003886934] | likely benign | 1 | 117912661 | 117912661 | Human | | name |
| 405276179 | CV3199622 | single nucleotide variant | NM_017686.4(GDAP2):c.561C>G (p.Arg187=) | GDAP2-related disorder [RCV003917011] | benign | 1 | 117906581 | 117906581 | Human | | name , trait , alternate_id |
| 405286953 | CV3213837 | single nucleotide variant | NM_017686.4(GDAP2):c.759A>G (p.Arg253=) | GDAP2-related disorder [RCV003924233]|not provided [RCV004721775] | likely benign | 1 | 117899094 | 117899094 | Human | 1 | name , trait , alternate_id |
| 405273532 | CV3213940 | single nucleotide variant | NM_017686.4(GDAP2):c.753T>C (p.Pro251=) | GDAP2-related disorder [RCV003914740]|not provided [RCV004721776] | likely benign | 1 | 117899100 | 117899100 | Human | 1 | name , trait , alternate_id |
| 408386154 | CV3496750 | deletion | NM_017686.4(GDAP2):c.134del (p.Pro45fs) | Spinocerebellar ataxia, autosomal recessive 27 [RCV004767703] | likely pathogenic | 1 | 117920224 | 117920224 | Human | 1 | name |
| 597703430 | CV3677171 | single nucleotide variant | NM_017686.4(GDAP2):c.91G>A (p.Asp31Asn) | not specified [RCV004916684] | uncertain significance | 1 | 117920267 | 117920267 | Human | | name |
| 598219027 | CV3970552 | single nucleotide variant | NM_017686.4(GDAP2):c.76G>A (p.Glu26Lys) | not specified [RCV005340233] | uncertain significance | 1 | 117920282 | 117920282 | Human | | name |
| 156005552 | CV2401104 | single nucleotide variant | NM_017686.4(GDAP2):c.154G>A (p.Val52Ile) | not specified [RCV004245675] | likely benign | 1 | 117920204 | 117920204 | Human | | name |
| 329401402 | CV2460869 | single nucleotide variant | NM_017686.4(GDAP2):c.140T>A (p.Leu47His) | not specified [RCV004271174] | uncertain significance | 1 | 117920218 | 117920218 | Human | | name |
| 401928281 | CV2809110 | single nucleotide variant | NM_017686.4(GDAP2):c.1467A>C (p.Thr489=) | not provided [RCV003406708] | likely benign | 1 | 117870596 | 117870596 | Human | | name |
| 597703472 | CV3677176 | single nucleotide variant | NM_017686.4(GDAP2):c.125T>C (p.Val42Ala) | not specified [RCV004916688] | uncertain significance | 1 | 117920233 | 117920233 | Human | | name |
| 597703484 | CV3677178 | single nucleotide variant | NM_017686.4(GDAP2):c.214G>A (p.Val72Met) | not specified [RCV004916689] | uncertain significance | 1 | 117918699 | 117918699 | Human | | name |
| 598219010 | CV3970550 | single nucleotide variant | NM_017686.4(GDAP2):c.206C>T (p.Thr69Ile) | not specified [RCV005340231] | uncertain significance | 1 | 117918707 | 117918707 | Human | | name |
| 598219036 | CV3970553 | single nucleotide variant | NM_017686.4(GDAP2):c.277G>A (p.Ala93Thr) | not specified [RCV005340234] | uncertain significance | 1 | 117918636 | 117918636 | Human | | name |
| 126914285 | CV1036929 | single nucleotide variant | NM_017686.4(GDAP2):c.343A>G (p.Thr115Ala) | not provided [RCV001358121] | uncertain significance | 1 | 117912657 | 117912657 | Human | | name |
| 156203509 | CV2110163 | single nucleotide variant | NM_017686.4(GDAP2):c.757C>T (p.Arg253Ter) | not provided [RCV002957468] | pathogenic | 1 | 117899096 | 117899096 | Human | | name |
| 156115922 | CV2209038 | single nucleotide variant | NM_017686.4(GDAP2):c.407G>A (p.Arg136His) | not specified [RCV004093284] | uncertain significance | 1 | 117912593 | 117912593 | Human | | name |
| 156112312 | CV2261922 | single nucleotide variant | NM_017686.4(GDAP2):c.638G>A (p.Gly213Asp) | not specified [RCV004127969] | uncertain significance | 1 | 117899215 | 117899215 | Human | | name |
| 156050067 | CV2271852 | single nucleotide variant | NM_017686.4(GDAP2):c.355A>C (p.Asn119His) | not specified [RCV004130676] | uncertain significance | 1 | 117912645 | 117912645 | Human | | name |
| 156183437 | CV2382236 | single nucleotide variant | NM_017686.4(GDAP2):c.962G>A (p.Arg321His) | not specified [RCV004228182] | uncertain significance | 1 | 117887766 | 117887766 | Human | | name |
| 329367929 | CV2442581 | single nucleotide variant | NM_017686.4(GDAP2):c.805G>A (p.Glu269Lys) | not specified [RCV004264945] | uncertain significance | 1 | 117896981 | 117896981 | Human | | name |
| 329392875 | CV2449349 | single nucleotide variant | NM_017686.4(GDAP2):c.497T>A (p.Phe166Tyr) | not specified [RCV004266513] | uncertain significance | 1 | 117912056 | 117912056 | Human | | name |
| 405785303 | CV3258041 | single nucleotide variant | NM_017686.4(GDAP2):c.745G>C (p.Val249Leu) | not specified [RCV004387544] | uncertain significance | 1 | 117899108 | 117899108 | Human | | name |
| 405785308 | CV3258042 | single nucleotide variant | NM_017686.4(GDAP2):c.848G>A (p.Gly283Asp) | not specified [RCV004387545] | uncertain significance | 1 | 117896938 | 117896938 | Human | | name |
| 405785585 | CV3258043 | single nucleotide variant | NM_017686.4(GDAP2):c.970T>C (p.Cys324Arg) | not specified [RCV004387546] | uncertain significance | 1 | 117887758 | 117887758 | Human | | name |
| 405853108 | CV3393539 | single nucleotide variant | NM_017686.4(GDAP2):c.704C>T (p.Pro235Leu) | not provided [RCV004546269] | likely benign | 1 | 117899149 | 117899149 | Human | | name |
| 407512414 | CV3432886 | single nucleotide variant | NM_017686.4(GDAP2):c.644A>G (p.Tyr215Cys) | not specified [RCV004626815] | uncertain significance | 1 | 117899209 | 117899209 | Human | | name |
| 407512418 | CV3432887 | single nucleotide variant | NM_017686.4(GDAP2):c.533T>C (p.Leu178Ser) | not specified [RCV004626816] | uncertain significance | 1 | 117912020 | 117912020 | Human | | name |
| 596932397 | CV3539017 | single nucleotide variant | NM_017686.4(GDAP2):c.481A>G (p.Met161Val) | not provided [RCV004793143] | uncertain significance | 1 | 117912072 | 117912072 | Human | | name |
| 597703441 | CV3677172 | single nucleotide variant | NM_017686.4(GDAP2):c.509A>G (p.Asn170Ser) | not specified [RCV004916685] | uncertain significance | 1 | 117912044 | 117912044 | Human | | name |
| 597758270 | CV3677173 | single nucleotide variant | NM_017686.4(GDAP2):c.413G>A (p.Arg138His) | not specified [RCV004925254] | uncertain significance | 1 | 117912587 | 117912587 | Human | | name |
| 597703452 | CV3677174 | single nucleotide variant | NM_017686.4(GDAP2):c.428G>A (p.Ser143Asn) | not specified [RCV004916686] | uncertain significance | 1 | 117912572 | 117912572 | Human | | name |
| 597703464 | CV3677175 | single nucleotide variant | NM_017686.4(GDAP2):c.944A>G (p.His315Arg) | not specified [RCV004916687] | uncertain significance | 1 | 117896842 | 117896842 | Human | | name |
| 598219001 | CV3970549 | single nucleotide variant | NM_017686.4(GDAP2):c.790C>G (p.Pro264Ala) | not specified [RCV005340230] | uncertain significance | 1 | 117899063 | 117899063 | Human | | name |
| 598219019 | CV3970551 | single nucleotide variant | NM_017686.4(GDAP2):c.892A>G (p.Arg298Gly) | not specified [RCV005340232] | uncertain significance | 1 | 117896894 | 117896894 | Human | | name |
| 14398860 | CV613437 | single nucleotide variant | NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter) | Spinocerebellar ataxia, autosomal recessive 27 [RCV000766186] | pathogenic|likely pathogenic | 1 | 117896840 | 117896840 | Human | 1 | name |
| 14398847 | CV613438 | duplication | NM_017686.4(GDAP2):c.1305dup (p.Ser436fs) | Spinocerebellar ataxia, autosomal recessive 27 [RCV000766187] | pathogenic | 1 | 117878149 | 117878150 | Human | 1 | name |
| 155965851 | CV2206597 | single nucleotide variant | NM_017686.4(GDAP2):c.1117T>C (p.Tyr373His) | not specified [RCV004080941] | uncertain significance | 1 | 117883618 | 117883618 | Human | | name |
| 155972207 | CV2271505 | single nucleotide variant | NM_017686.4(GDAP2):c.1189G>A (p.Glu397Lys) | not specified [RCV004128598] | uncertain significance | 1 | 117883546 | 117883546 | Human | | name |
| 156148624 | CV2358103 | single nucleotide variant | NM_017686.4(GDAP2):c.1294C>T (p.Arg432Cys) | not specified [RCV004211912] | uncertain significance | 1 | 117881831 | 117881831 | Human | | name |
| 329395476 | CV2458406 | single nucleotide variant | NM_017686.4(GDAP2):c.1114T>G (p.Leu372Val) | not specified [RCV004266041] | uncertain significance | 1 | 117883621 | 117883621 | Human | | name |
| 329359715 | CV2462237 | single nucleotide variant | NM_017686.4(GDAP2):c.1274A>G (p.Tyr425Cys) | not specified [RCV004266239] | uncertain significance | 1 | 117881851 | 117881851 | Human | | name |
| 401751241 | CV2716332 | single nucleotide variant | NM_017686.4(GDAP2):c.1155G>T (p.Glu385Asp) | not specified [RCV004325328] | uncertain significance | 1 | 117883580 | 117883580 | Human | | name |
| 401933946 | CV2802448 | single nucleotide variant | NM_017686.4(GDAP2):c.1048C>T (p.Arg350Ter) | GDAP2-related disorder [RCV003410827] | likely pathogenic | 1 | 117886636 | 117886636 | Human | | name , trait , alternate_id |
| 405281993 | CV3210044 | single nucleotide variant | NM_017686.4(GDAP2):c.1465A>G (p.Thr489Ala) | GDAP2-related disorder [RCV003907383] | benign | 1 | 117870598 | 117870598 | Human | | name , trait , alternate_id |
| 405711076 | CV3225765 | single nucleotide variant | NM_017686.4(GDAP2):c.1291T>G (p.Phe431Val) | Spinocerebellar ataxia, autosomal recessive 27 [RCV003990823] | uncertain significance | 1 | 117881834 | 117881834 | Human | 1 | name |
| 405785282 | CV3258037 | single nucleotide variant | NM_017686.4(GDAP2):c.1253A>G (p.Lys418Arg) | not specified [RCV004387540] | uncertain significance | 1 | 117881872 | 117881872 | Human | | name |
| 405785287 | CV3258038 | single nucleotide variant | NM_017686.4(GDAP2):c.1295G>A (p.Arg432His) | not specified [RCV004387541] | uncertain significance | 1 | 117881830 | 117881830 | Human | | name |
| 405785292 | CV3258039 | single nucleotide variant | NM_017686.4(GDAP2):c.1317T>A (p.Phe439Leu) | not specified [RCV004387542] | uncertain significance | 1 | 117878138 | 117878138 | Human | | name |
| 14398848 | CV613439 | insertion | NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs) | Spinocerebellar ataxia, autosomal recessive 27 [RCV000766188] | pathogenic | 1 | 117883536 | 117883537 | Human | 1 | name |
