| 155908721 | CV2354732 | single nucleotide variant | NM_003986.3(BBOX1):c.8G>C (p.Cys3Ser) | not specified [RCV004202681] | uncertain significance | 11 | 27055438 | 27055438 | Human | | name |
| 598260581 | CV3931376 | single nucleotide variant | NM_003986.3(BBOX1):c.16C>G (p.Gln6Glu) | not specified [RCV005300455] | uncertain significance | 11 | 27055446 | 27055446 | Human | | name |
| 156265775 | CV2312260 | single nucleotide variant | NM_003986.3(BBOX1):c.77A>C (p.Glu26Ala) | not specified [RCV004166974] | uncertain significance | 11 | 27055507 | 27055507 | Human | | name |
| 405285134 | CV3202397 | single nucleotide variant | NM_003986.3(BBOX1):c.960C>A (p.Leu320=) | BBOX1-related disorder [RCV003909667] | likely benign | 11 | 27125777 | 27125777 | Human | | name , trait , alternate_id |
| 407495077 | CV3417559 | single nucleotide variant | NM_003986.3(BBOX1):c.37G>A (p.Gly13Arg) | not specified [RCV004605739] | uncertain significance | 11 | 27055467 | 27055467 | Human | | name |
| 407495081 | CV3417560 | single nucleotide variant | NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp) | not specified [RCV004605740] | uncertain significance | 11 | 27055471 | 27055471 | Human | | name |
| 15101837 | CV701714 | single nucleotide variant | NM_003986.3(BBOX1):c.930T>C (p.Phe310=) | not provided [RCV000959171] | benign | 11 | 27125747 | 27125747 | Human | | name |
| 15117025 | CV712774 | single nucleotide variant | NM_003986.3(BBOX1):c.621C>T (p.Ala207=) | not provided [RCV000962133] | benign | 11 | 27115539 | 27115539 | Human | | name |
| 15195065 | CV752629 | single nucleotide variant | NM_003986.3(BBOX1):c.399T>C (p.Tyr133=) | not provided [RCV000911306] | benign | 11 | 27093232 | 27093232 | Human | | name |
| 156072396 | CV2233367 | single nucleotide variant | NM_003986.3(BBOX1):c.151C>T (p.Arg51Trp) | not specified [RCV004105732] | uncertain significance | 11 | 27055581 | 27055581 | Human | | name |
| 155969589 | CV2244598 | single nucleotide variant | NM_003986.3(BBOX1):c.247T>A (p.Tyr83Asn) | not specified [RCV004102322] | uncertain significance | 11 | 27057228 | 27057228 | Human | | name |
| 156183819 | CV2255384 | single nucleotide variant | NM_003986.3(BBOX1):c.116C>T (p.Pro39Leu) | not specified [RCV004117752] | uncertain significance | 11 | 27055546 | 27055546 | Human | | name |
| 155954933 | CV2274393 | single nucleotide variant | NM_003986.3(BBOX1):c.241G>A (p.Glu81Lys) | not specified [RCV004136768] | uncertain significance | 11 | 27057222 | 27057222 | Human | | name |
| 156259578 | CV2277842 | single nucleotide variant | NM_003986.3(BBOX1):c.266A>T (p.Asp89Val) | not specified [RCV004147262] | uncertain significance | 11 | 27057247 | 27057247 | Human | | name |
| 401872792 | CV2776223 | single nucleotide variant | NM_003986.3(BBOX1):c.209A>T (p.Asp70Val) | not specified [RCV004353592] | uncertain significance | 11 | 27055639 | 27055639 | Human | | name |
| 405705603 | CV3301601 | single nucleotide variant | NM_003986.3(BBOX1):c.232T>A (p.Trp78Arg) | not specified [RCV004426028] | uncertain significance | 11 | 27057213 | 27057213 | Human | | name |
| 598260515 | CV3931356 | single nucleotide variant | NM_003986.3(BBOX1):c.242A>T (p.Glu81Val) | not specified [RCV005300442] | uncertain significance | 11 | 27057223 | 27057223 | Human | | name |
| 156069995 | CV2232320 | single nucleotide variant | NM_003986.3(BBOX1):c.981G>C (p.Lys327Asn) | not specified [RCV004098960] | uncertain significance | 11 | 27125798 | 27125798 | Human | | name |
| 156148970 | CV2292871 | single nucleotide variant | NM_003986.3(BBOX1):c.616C>G (p.Pro206Ala) | not specified [RCV004148378] | uncertain significance | 11 | 27115534 | 27115534 | Human | | name |
| 155980146 | CV2336878 | single nucleotide variant | NM_003986.3(BBOX1):c.363G>C (p.Gln121His) | not specified [RCV004190496] | uncertain significance | 11 | 27093196 | 27093196 | Human | | name |
| 401741503 | CV2697563 | single nucleotide variant | NM_003986.3(BBOX1):c.505A>C (p.Met169Leu) | not specified [RCV004298319] | uncertain significance | 11 | 27093338 | 27093338 | Human | | name |
| 401765323 | CV2712645 | single nucleotide variant | NM_003986.3(BBOX1):c.959T>G (p.Leu320Arg) | not specified [RCV004307969] | uncertain significance | 11 | 27125776 | 27125776 | Human | | name |
| 401760300 | CV2718791 | single nucleotide variant | NM_003986.3(BBOX1):c.346T>C (p.Trp116Arg) | not specified [RCV004328537] | uncertain significance | 11 | 27093179 | 27093179 | Human | | name |
| 401855258 | CV2757220 | single nucleotide variant | NM_003986.3(BBOX1):c.350G>T (p.Gly117Val) | not specified [RCV004338818] | uncertain significance | 11 | 27093183 | 27093183 | Human | | name |
| 405705611 | CV3301602 | single nucleotide variant | NM_003986.3(BBOX1):c.535C>T (p.His179Tyr) | not specified [RCV004426029] | uncertain significance | 11 | 27115453 | 27115453 | Human | | name |
| 405705626 | CV3301604 | single nucleotide variant | NM_003986.3(BBOX1):c.626A>G (p.His209Arg) | not specified [RCV004426031] | uncertain significance | 11 | 27115544 | 27115544 | Human | | name |
| 405705634 | CV3301605 | single nucleotide variant | NM_003986.3(BBOX1):c.743C>T (p.Ala248Val) | not specified [RCV004426032] | uncertain significance | 11 | 27119752 | 27119752 | Human | | name |
| 405705648 | CV3301606 | single nucleotide variant | NM_003986.3(BBOX1):c.770T>C (p.Val257Ala) | not specified [RCV004426033] | uncertain significance | 11 | 27119779 | 27119779 | Human | | name |
| 405705653 | CV3301607 | single nucleotide variant | NM_003986.3(BBOX1):c.841G>C (p.Asp281His) | not specified [RCV004426034] | uncertain significance | 11 | 27125658 | 27125658 | Human | | name |
| 597759735 | CV3642936 | single nucleotide variant | NM_003986.3(BBOX1):c.862C>T (p.Arg288Cys) | not specified [RCV004894612] | uncertain significance | 11 | 27125679 | 27125679 | Human | | name |
| 597759738 | CV3642938 | single nucleotide variant | NM_003986.3(BBOX1):c.910G>C (p.Val304Leu) | not specified [RCV004894613] | uncertain significance | 11 | 27125727 | 27125727 | Human | | name |
| 597759743 | CV3642939 | single nucleotide variant | NM_003986.3(BBOX1):c.680G>A (p.Gly227Asp) | not specified [RCV004894614] | uncertain significance | 11 | 27119689 | 27119689 | Human | | name |
| 597759752 | CV3642941 | single nucleotide variant | NM_003986.3(BBOX1):c.408C>A (p.His136Gln) | not specified [RCV004894616] | uncertain significance | 11 | 27093241 | 27093241 | Human | | name |
| 597759757 | CV3642942 | single nucleotide variant | NM_003986.3(BBOX1):c.562G>A (p.Asp188Asn) | not specified [RCV004894617] | uncertain significance | 11 | 27115480 | 27115480 | Human | | name |
| 598247879 | CV3931316 | single nucleotide variant | NM_003986.3(BBOX1):c.959T>A (p.Leu320His) | not specified [RCV005297942] | uncertain significance | 11 | 27125776 | 27125776 | Human | | name |
| 598183816 | CV3931365 | single nucleotide variant | NM_003986.3(BBOX1):c.581A>T (p.Tyr194Phe) | not specified [RCV005311463] | uncertain significance | 11 | 27115499 | 27115499 | Human | | name |
| 156032830 | CV2214531 | single nucleotide variant | NM_003986.3(BBOX1):c.1013T>A (p.Ile338Asn) | not specified [RCV004088582] | uncertain significance | 11 | 27127302 | 27127302 | Human | | name |
| 156184433 | CV2239202 | single nucleotide variant | NM_003986.3(BBOX1):c.1007A>T (p.Asp336Val) | not specified [RCV004112182] | uncertain significance | 11 | 27127296 | 27127296 | Human | | name |
| 401738410 | CV2714448 | single nucleotide variant | NM_003986.3(BBOX1):c.1157G>A (p.Gly386Glu) | not specified [RCV004317975] | uncertain significance | 11 | 27127446 | 27127446 | Human | | name |
| 405705585 | CV3301599 | single nucleotide variant | NM_003986.3(BBOX1):c.1043G>T (p.Gly348Val) | not specified [RCV004426026] | uncertain significance | 11 | 27127332 | 27127332 | Human | | name |
| 597759748 | CV3642940 | single nucleotide variant | NM_003986.3(BBOX1):c.1052G>A (p.Ser351Asn) | not specified [RCV004894615] | uncertain significance | 11 | 27127341 | 27127341 | Human | | name |
| 598183779 | CV3931346 | single nucleotide variant | NM_003986.3(BBOX1):c.1041T>A (p.His347Gln) | not specified [RCV005311458] | uncertain significance | 11 | 27127330 | 27127330 | Human | | name |