| 405279260 | CV3217446 | single nucleotide variant | NM_001276309.3(NOL3):c.-4G>T | NOL3-related disorder [RCV003976858] | likely benign | 16 | 67174166 | 67174166 | Human | | name , trait , alternate_id |
| 405286195 | CV3218745 | single nucleotide variant | NM_001276309.3(NOL3):c.*50G>A | NOL3-related disorder [RCV003959461] | benign | 16 | 67175104 | 67175104 | Human | | name , trait , alternate_id |
| 405293136 | CV3221292 | single nucleotide variant | NM_001276309.3(NOL3):c.*22G>T | NOL3-related disorder [RCV003966814] | likely benign | 16 | 67175076 | 67175076 | Human | | name , trait , alternate_id |
| 401924748 | CV2805102 | single nucleotide variant | NM_001276309.3(NOL3):c.-8-14C>T | not specified [RCV003404921] | likely benign | 16 | 67174148 | 67174148 | Human | | name |
| 401963631 | CV2843212 | single nucleotide variant | NM_001276309.3(NOL3):c.-8-158C>T | not specified [RCV003479554] | uncertain significance | 16 | 67174004 | 67174004 | Human | | name |
| 405285938 | CV3221625 | single nucleotide variant | NM_001276309.3(NOL3):c.-8-132C>T | NOL3-related disorder [RCV003981335] | benign | 16 | 67174030 | 67174030 | Human | 1 | name , trait , alternate_id |
| 405285938 | CV3221625 | single nucleotide variant | NM_001276309.3(NOL3):c.-8-132C>T | NOL3-related disorder [RCV003981335] | benign | 16 | 67174030 | 67174031 | Human | 1 | name , trait , alternate_id |
| 126739628 | CV1021497 | deletion | NM_003946.6(NOL3):c.449del (p.Pro150fs) | Myoclonus, familial 1 [RCV001335801] | pathogenic | 16 | 67174771 | 67174771 | Human | | name |
| 405289593 | CV3205205 | single nucleotide variant | NM_001276309.3(NOL3):c.75G>A (p.Ala25=) | NOL3-related disorder [RCV003961794] | benign | 16 | 67174244 | 67174244 | Human | | name , trait , alternate_id |
| 405853311 | CV3392640 | single nucleotide variant | NM_001276309.3(NOL3):c.30G>A (p.Glu10=) | not specified [RCV004526364] | likely benign | 16 | 67174199 | 67174199 | Human | | name |
| 401864564 | CV2760957 | single nucleotide variant | NM_001276309.3(NOL3):c.297C>A (p.Gly99=) | not specified [RCV004336589] | uncertain significance | 16 | 67174622 | 67174622 | Human | | name |
| 156231209 | CV2348746 | single nucleotide variant | NM_001276309.3(NOL3):c.95A>G (p.Asp32Gly) | not specified [RCV004201153] | uncertain significance | 16 | 67174264 | 67174264 | Human | | name |
| 401722149 | CV2706399 | single nucleotide variant | NM_001276309.3(NOL3):c.453G>A (p.Glu151=) | not specified [RCV004317236] | uncertain significance | 16 | 67174778 | 67174778 | Human | | name |
| 401721494 | CV2709987 | single nucleotide variant | NM_001276309.3(NOL3):c.333C>A (p.Gly111=) | not specified [RCV004315053] | uncertain significance | 16 | 67174658 | 67174658 | Human | | name |
| 401750402 | CV2715629 | single nucleotide variant | NM_001276309.3(NOL3):c.585C>T (p.Pro195=) | not specified [RCV004327012] | uncertain significance | 16 | 67174910 | 67174910 | Human | | name |
| 401871931 | CV2783638 | single nucleotide variant | NM_001276309.3(NOL3):c.483C>T (p.Ala161=) | not specified [RCV004360285] | uncertain significance | 16 | 67174808 | 67174808 | Human | | name |
| 405165276 | CV2960734 | single nucleotide variant | NM_001276309.3(NOL3):c.68T>C (p.Leu23Pro) | not provided [RCV003674983] | uncertain significance | 16 | 67174237 | 67174237 | Human | | name |
| 405271523 | CV3209413 | single nucleotide variant | NM_001276309.3(NOL3):c.76G>T (p.Asp26Tyr) | NOL3-related disorder [RCV003949740] | likely benign | 16 | 67174245 | 67174245 | Human | | name , trait , alternate_id |
| 405273534 | CV3213966 | single nucleotide variant | NM_001276309.3(NOL3):c.408C>G (p.Ala136=) | NOL3-related disorder [RCV003914741] | likely benign | 16 | 67174733 | 67174733 | Human | | name , trait , alternate_id |
| 405677336 | CV3355467 | single nucleotide variant | NM_001276309.3(NOL3):c.615C>T (p.Ser205=) | not specified [RCV004487917] | likely benign | 16 | 67174940 | 67174940 | Human | | name |
| 405677340 | CV3355468 | single nucleotide variant | NM_001276309.3(NOL3):c.95A>T (p.Asp32Val) | not specified [RCV004487918] | uncertain significance | 16 | 67174264 | 67174264 | Human | | name |
| 597671822 | CV3563023 | single nucleotide variant | NM_001276309.3(NOL3):c.360G>C (p.Ser120=) | not specified [RCV004829873] | uncertain significance | 16 | 67174685 | 67174685 | Human | | name |
| 597671832 | CV3563024 | single nucleotide variant | NM_001276309.3(NOL3):c.501G>A (p.Pro167=) | not specified [RCV004829874] | uncertain significance | 16 | 67174826 | 67174826 | Human | | name |
| 597671848 | CV3563026 | single nucleotide variant | NM_001276309.3(NOL3):c.360G>A (p.Ser120=) | not specified [RCV004829876] | likely benign | 16 | 67174685 | 67174685 | Human | | name |
| 598206730 | CV4004510 | single nucleotide variant | NM_001276309.3(NOL3):c.507G>A (p.Pro169=) | not specified [RCV005376979] | uncertain significance | 16 | 67174832 | 67174832 | Human | | name |
| 598240019 | CV4004511 | single nucleotide variant | NM_001276309.3(NOL3):c.432G>A (p.Ala144=) | not specified [RCV005383030] | likely benign | 16 | 67174757 | 67174757 | Human | | name |
| 8604378 | CV48402 | single nucleotide variant | NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln) | Myoclonus, familial, 1 [RCV000033024] | pathogenic|uncertain significance | 16 | 67174230 | 67174230 | Human | 1 | name |
| 15166082 | CV726734 | single nucleotide variant | NM_001276309.3(NOL3):c.342G>C (p.Thr114=) | not provided [RCV000882553]|not specified [RCV004028317] | likely benign|uncertain significance | 16 | 67174667 | 67174667 | Human | | name |
| 21075406 | CV797353 | single nucleotide variant | NM_001276309.3(NOL3):c.555G>A (p.Pro185=) | not provided [RCV000996284] | uncertain significance | 16 | 67174880 | 67174880 | Human | | name |
| 126739635 | CV1021498 | duplication | NM_001276309.3(NOL3):c.489dup (p.Glu164fs) | Myoclonus, familial [RCV005362263] | pathogenic|uncertain significance | 16 | 67174811 | 67174812 | Human | 1 | name |
| 156184225 | CV2349912 | single nucleotide variant | NM_001276309.3(NOL3):c.182T>C (p.Leu61Pro) | not specified [RCV004206327] | uncertain significance | 16 | 67174351 | 67174351 | Human | | name |
| 401722891 | CV2703533 | single nucleotide variant | NM_001276309.3(NOL3):c.154C>A (p.Pro52Thr) | not specified [RCV004317707] | uncertain significance | 16 | 67174323 | 67174323 | Human | | name |
| 401867534 | CV2748986 | single nucleotide variant | NM_001276309.3(NOL3):c.199G>A (p.Gly67Ser) | not specified [RCV003331810] | uncertain significance | 16 | 67174368 | 67174368 | Human | | name |
| 405654804 | CV3228341 | single nucleotide variant | NM_001276309.3(NOL3):c.227T>A (p.Leu76Gln) | not specified [RCV003995076] | uncertain significance | 16 | 67174396 | 67174396 | Human | | name |
| 407498038 | CV3469056 | single nucleotide variant | NM_001276309.3(NOL3):c.179G>A (p.Arg60His) | not specified [RCV004643901] | uncertain significance | 16 | 67174348 | 67174348 | Human | | name |
| 598206736 | CV4004513 | single nucleotide variant | NM_001276309.3(NOL3):c.113G>A (p.Gly38Asp) | not specified [RCV005376980] | uncertain significance | 16 | 67174282 | 67174282 | Human | | name |
| 126739623 | CV1021496 | single nucleotide variant | NM_001276309.3(NOL3):c.383C>A (p.Pro128His) | Myoclonus, familial, 1 [RCV001335800] | uncertain significance | 16 | 67174708 | 67174708 | Human | 1 | name |
| 155978716 | CV2215082 | single nucleotide variant | NM_001276309.3(NOL3):c.609C>A (p.Asp203Glu) | not specified [RCV004084850] | uncertain significance | 16 | 67174934 | 67174934 | Human | | name |
| 156139507 | CV2246875 | single nucleotide variant | NM_001276309.3(NOL3):c.350C>T (p.Ala117Val) | not specified [RCV004112680] | uncertain significance | 16 | 67174675 | 67174675 | Human | | name |
| 401908882 | CV2803610 | single nucleotide variant | NM_001276309.3(NOL3):c.547C>T (p.Pro183Ser) | NOL3-related disorder [RCV003397715] | uncertain significance | 16 | 67174872 | 67174872 | Human | | name , trait , alternate_id |
| 405677332 | CV3355466 | single nucleotide variant | NM_001276309.3(NOL3):c.527A>G (p.Glu176Gly) | not specified [RCV004487916] | uncertain significance | 16 | 67174852 | 67174852 | Human | | name |
| 407509629 | CV3469055 | single nucleotide variant | NM_001276309.3(NOL3):c.540A>C (p.Glu180Asp) | not specified [RCV004647473] | uncertain significance | 16 | 67174865 | 67174865 | Human | | name |
| 407509633 | CV3469057 | single nucleotide variant | NM_001276309.3(NOL3):c.475G>A (p.Ala159Thr) | not specified [RCV004647474] | likely benign | 16 | 67174800 | 67174800 | Human | | name |
| 407509636 | CV3469058 | single nucleotide variant | NM_001276309.3(NOL3):c.430G>A (p.Ala144Thr) | not specified [RCV004647475] | likely benign | 16 | 67174755 | 67174755 | Human | | name |
| 407509640 | CV3469059 | single nucleotide variant | NM_001276309.3(NOL3):c.431C>A (p.Ala144Glu) | not specified [RCV004647476] | likely benign | 16 | 67174756 | 67174756 | Human | | name |
| 597671839 | CV3563025 | single nucleotide variant | NM_001276309.3(NOL3):c.514G>A (p.Glu172Lys) | not specified [RCV004829875] | likely benign | 16 | 67174839 | 67174839 | Human | | name |
| 597671859 | CV3563027 | single nucleotide variant | NM_001276309.3(NOL3):c.386G>A (p.Arg129Lys) | not specified [RCV004829877] | uncertain significance | 16 | 67174711 | 67174711 | Human | | name |
| 598240027 | CV4004512 | single nucleotide variant | NM_001276309.3(NOL3):c.553C>T (p.Pro185Ser) | not specified [RCV005383031] | likely benign | 16 | 67174878 | 67174878 | Human | | name |
| 15197608 | CV726733 | single nucleotide variant | NM_001276309.3(NOL3):c.331G>A (p.Gly111Ser) | not provided [RCV000890108] | likely benign | 16 | 67174656 | 67174656 | Human | | name |
| 155796290 | CV1861769 | deletion | NM_001276309.3(NOL3):c.475_528del (p.Ala159_Glu176del) | not specified [RCV002470051] | uncertain significance | 16 | 67174778 | 67174831 | Human | | name |