| 598167138 | CV3893758 | single nucleotide variant | ALX3, GLN202TER | Frontorhiny [RCV005256498] | pathogenic | | | | Human | 1 | name |
| 8558181 | CV19681 | single nucleotide variant | NM_006492.3(ALX3):c.595-2A>T | Frontorhiny [RCV000004905] | pathogenic | 1 | 110061565 | 110061565 | Human | 1 | name |
| 597924024 | CV3856991 | single nucleotide variant | NM_006492.3(ALX3):c.595-5C>A | not provided [RCV005198791] | likely benign | 1 | 110061568 | 110061568 | Human | | name |
| 15164724 | CV758814 | single nucleotide variant | NM_006492.3(ALX3):c.278-6T>C | not provided [RCV000926452] | benign | 1 | 110064909 | 110064909 | Human | | name |
| 150404547 | CV1178848 | single nucleotide variant | NM_006492.3(ALX3):c.277+33C>T | Frontorhiny [RCV001548883]|not provided [RCV001647413] | benign | 1 | 110070303 | 110070303 | Human | 1 | name |
| 597871446 | CV3816678 | single nucleotide variant | NM_006492.3(ALX3):c.277+18G>A | not provided [RCV005146251] | likely benign | 1 | 110070318 | 110070318 | Human | | name |
| 150464807 | CV1241380 | single nucleotide variant | NM_006492.3(ALX3):c.594+263G>C | not provided [RCV001649891] | benign | 1 | 110064324 | 110064324 | Human | | name |
| 150469255 | CV1243127 | single nucleotide variant | NM_006492.3(ALX3):c.594+190T>C | not provided [RCV001650646] | benign | 1 | 110064397 | 110064397 | Human | | name |
| 150488904 | CV1265322 | single nucleotide variant | NM_006492.3(ALX3):c.277+296T>C | not provided [RCV001687358] | benign | 1 | 110070040 | 110070040 | Human | | name |
| 150510127 | CV1286690 | single nucleotide variant | NM_006492.3(ALX3):c.277+231A>G | not provided [RCV001720925] | benign | 1 | 110070105 | 110070105 | Human | | name |
| 15121764 | CV745554 | single nucleotide variant | NM_006492.3(ALX3):c.84G>A (p.Pro28=) | not provided [RCV000918536] | likely benign | 1 | 110070529 | 110070529 | Human | | name |
| 155954611 | CV2389790 | single nucleotide variant | NM_006492.3(ALX3):c.20C>T (p.Ala7Val) | Inborn genetic diseases [RCV002753395] | uncertain significance | 1 | 110070593 | 110070593 | Human | 1 | name |
| 15164072 | CV731565 | single nucleotide variant | NM_006492.3(ALX3):c.204C>T (p.Pro68=) | not provided [RCV000903919] | benign | 1 | 110070409 | 110070409 | Human | | name |
| 329390310 | CV2453913 | single nucleotide variant | NM_006492.3(ALX3):c.92C>G (p.Thr31Ser) | Inborn genetic diseases [RCV003191554] | uncertain significance | 1 | 110070521 | 110070521 | Human | 1 | name |
| 11542396 | CV249362 | single nucleotide variant | NM_006492.3(ALX3):c.627G>A (p.Arg209=) | not provided [RCV000911637]|not specified [RCV000253012] | benign|likely benign | 1 | 110061531 | 110061531 | Human | | name |
| 405177138 | CV2915857 | single nucleotide variant | NM_006492.3(ALX3):c.414G>A (p.Pro138=) | ALX3-related disorder [RCV003966533]|not provided [RCV003563636] | benign|likely benign | 1 | 110064767 | 110064767 | Human | 1 | name , trait , alternate_id |
| 405287968 | CV3203404 | single nucleotide variant | NM_006492.3(ALX3):c.975C>T (p.Leu325=) | ALX3-related disorder [RCV003924635] | likely benign | 1 | 110060790 | 110060790 | Human | | name , trait , alternate_id |
| 598179312 | CV3976014 | single nucleotide variant | NM_006492.3(ALX3):c.64G>C (p.Gly22Arg) | Inborn genetic diseases [RCV005352134] | uncertain significance | 1 | 110070549 | 110070549 | Human | 1 | name |
| 598179354 | CV3976024 | single nucleotide variant | NM_006492.3(ALX3):c.34G>A (p.Gly12Arg) | Inborn genetic diseases [RCV005352141] | uncertain significance | 1 | 110070579 | 110070579 | Human | 1 | name |
| 15168227 | CV718078 | single nucleotide variant | NM_006492.3(ALX3):c.915C>T (p.Pro305=) | not provided [RCV000883019] | benign | 1 | 110060850 | 110060850 | Human | | name |
| 15098823 | CV745550 | single nucleotide variant | NM_006492.3(ALX3):c.876G>A (p.Ala292=) | not provided [RCV000914337] | likely benign | 1 | 110060889 | 110060889 | Human | | name |
| 15149411 | CV745551 | single nucleotide variant | NM_006492.3(ALX3):c.642T>C (p.Tyr214=) | not provided [RCV000923281] | likely benign | 1 | 110061516 | 110061516 | Human | | name |
| 15114018 | CV745552 | single nucleotide variant | NM_006492.3(ALX3):c.480C>T (p.Phe160=) | not provided [RCV000917199] | likely benign | 1 | 110064701 | 110064701 | Human | | name |
| 15126349 | CV745553 | single nucleotide variant | NM_006492.3(ALX3):c.438G>A (p.Leu146=) | not provided [RCV000919309] | likely benign | 1 | 110064743 | 110064743 | Human | | name |
| 156312579 | CV2120115 | single nucleotide variant | NM_006492.3(ALX3):c.155C>T (p.Pro52Leu) | not provided [RCV002962706] | likely benign | 1 | 110070458 | 110070458 | Human | | name |
| 156227308 | CV2212742 | single nucleotide variant | NM_006492.3(ALX3):c.116A>T (p.His39Leu) | Inborn genetic diseases [RCV002712524] | uncertain significance | 1 | 110070497 | 110070497 | Human | 1 | name |
| 156327288 | CV2219812 | single nucleotide variant | NM_006492.3(ALX3):c.191C>T (p.Pro64Leu) | Inborn genetic diseases [RCV002717564] | uncertain significance | 1 | 110070422 | 110070422 | Human | 1 | name |
| 155960475 | CV2285406 | single nucleotide variant | NM_006492.3(ALX3):c.182T>A (p.Leu61His) | Inborn genetic diseases [RCV002841272] | uncertain significance | 1 | 110070431 | 110070431 | Human | 1 | name |
| 156147355 | CV2289409 | single nucleotide variant | NM_006492.3(ALX3):c.232G>A (p.Gly78Ser) | Inborn genetic diseases [RCV002850681] | uncertain significance | 1 | 110070381 | 110070381 | Human | 1 | name |
| 155931245 | CV2370854 | single nucleotide variant | NM_006492.3(ALX3):c.232G>C (p.Gly78Arg) | Inborn genetic diseases [RCV002684204] | uncertain significance | 1 | 110070381 | 110070381 | Human | 1 | name |
| 156086386 | CV2390828 | single nucleotide variant | NM_006492.3(ALX3):c.166C>T (p.Pro56Ser) | Inborn genetic diseases [RCV002784040] | uncertain significance | 1 | 110070447 | 110070447 | Human | 1 | name |
| 401774140 | CV2691531 | single nucleotide variant | NM_006492.3(ALX3):c.111C>G (p.His37Gln) | Inborn genetic diseases [RCV003285646] | uncertain significance | 1 | 110070502 | 110070502 | Human | 1 | name |
| 401775272 | CV2692319 | single nucleotide variant | NM_006492.3(ALX3):c.127C>T (p.Pro43Ser) | Inborn genetic diseases [RCV003286038] | uncertain significance | 1 | 110070486 | 110070486 | Human | 1 | name |
| 401863154 | CV2776725 | single nucleotide variant | NM_006492.3(ALX3):c.109C>T (p.His37Tyr) | Inborn genetic diseases [RCV003378484] | uncertain significance | 1 | 110070504 | 110070504 | Human | 1 | name |
| 401881413 | CV2784684 | single nucleotide variant | NM_006492.3(ALX3):c.193G>A (p.Ala65Thr) | Inborn genetic diseases [RCV003364973] | uncertain significance | 1 | 110070420 | 110070420 | Human | 1 | name |
| 402509029 | CV2998365 | single nucleotide variant | NM_006492.3(ALX3):c.181C>G (p.Leu61Val) | not provided [RCV003689364] | uncertain significance | 1 | 110070432 | 110070432 | Human | | name |
| 405816734 | CV3272307 | single nucleotide variant | NM_006492.3(ALX3):c.118C>G (p.Pro40Ala) | Inborn genetic diseases [RCV004411743] | uncertain significance | 1 | 110070495 | 110070495 | Human | 1 | name |
| 405816744 | CV3272317 | single nucleotide variant | NM_006492.3(ALX3):c.137C>G (p.Pro46Arg) | Inborn genetic diseases [RCV004411753] | uncertain significance | 1 | 110070476 | 110070476 | Human | 1 | name |
| 598179273 | CV3976002 | single nucleotide variant | NM_006492.3(ALX3):c.100G>A (p.Ala34Thr) | Inborn genetic diseases [RCV005352126] | uncertain significance | 1 | 110070513 | 110070513 | Human | 1 | name |
| 155803728 | CV1858294 | single nucleotide variant | NM_006492.3(ALX3):c.556C>G (p.Leu186Val) | not provided [RCV002462603] | uncertain significance | 1 | 110064625 | 110064625 | Human | | name |
| 156007923 | CV1870567 | single nucleotide variant | NM_006492.3(ALX3):c.592C>T (p.Gln198Ter) | not provided [RCV003076922] | pathogenic | 1 | 110064589 | 110064589 | Human | | name |
| 8558182 | CV19682 | single nucleotide variant | NM_006492.3(ALX3):c.608A>G (p.Asn203Ser) | Frontorhiny [RCV000004906] | pathogenic | 1 | 110061550 | 110061550 | Human | 1 | name |
| 8558183 | CV19683 | single nucleotide variant | NM_006492.3(ALX3):c.502C>G (p.Leu168Val) | Frontorhiny [RCV000004907] | pathogenic | 1 | 110064679 | 110064679 | Human | 1 | name |
| 8558184 | CV19684 | single nucleotide variant | NM_006492.3(ALX3):c.547C>T (p.Arg183Trp) | Frontorhiny [RCV000004908]|not provided [RCV005089170] | pathogenic|uncertain significance | 1 | 110064634 | 110064634 | Human | 1 | name |
| 8558185 | CV19685 | single nucleotide variant | NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter) | Frontorhiny [RCV000004909] | pathogenic | 1 | 110064638 | 110064638 | Human | 1 | name |
| 8558187 | CV19687 | single nucleotide variant | NM_006492.3(ALX3):c.586C>T (p.Arg196Trp) | Frontorhiny [RCV000004911] | pathogenic | 1 | 110064595 | 110064595 | Human | 1 | name |
| 10403686 | CV206700 | single nucleotide variant | NM_006492.3(ALX3):c.748C>G (p.Pro250Ala) | not provided [RCV000966760]|not specified [RCV000193142] | benign|likely benign | 1 | 110061017 | 110061017 | Human | | name |
| 155996472 | CV2109442 | single nucleotide variant | NM_006492.3(ALX3):c.959A>G (p.Tyr320Cys) | Inborn genetic diseases [RCV002947583]|not provided [RCV002914683] | uncertain significance | 1 | 110060806 | 110060806 | Human | 1 | name |
| 156252875 | CV2212487 | single nucleotide variant | NM_006492.3(ALX3):c.862C>T (p.Pro288Ser) | Inborn genetic diseases [RCV002702553] | uncertain significance | 1 | 110060903 | 110060903 | Human | 1 | name |
| 156234058 | CV2227814 | single nucleotide variant | NM_006492.3(ALX3):c.778C>T (p.Leu260Phe) | Inborn genetic diseases [RCV002712949] | uncertain significance | 1 | 110060987 | 110060987 | Human | 1 | name |
| 156169732 | CV2247336 | single nucleotide variant | NM_006492.3(ALX3):c.694G>A (p.Val232Met) | Inborn genetic diseases [RCV002787990] | uncertain significance | 1 | 110061464 | 110061464 | Human | 1 | name |
| 156178060 | CV2287900 | single nucleotide variant | NM_006492.3(ALX3):c.683A>G (p.Tyr228Cys) | Inborn genetic diseases [RCV002873498] | uncertain significance | 1 | 110061475 | 110061475 | Human | 1 | name |
| 156344499 | CV2294091 | single nucleotide variant | NM_006492.3(ALX3):c.349G>A (p.Gly117Arg) | Inborn genetic diseases [RCV002900687] | uncertain significance | 1 | 110064832 | 110064832 | Human | 1 | name |
| 156097481 | CV2294464 | single nucleotide variant | NM_006492.3(ALX3):c.406C>G (p.Leu136Val) | Inborn genetic diseases [RCV002870224] | uncertain significance | 1 | 110064775 | 110064775 | Human | 1 | name |
| 155972464 | CV2335803 | single nucleotide variant | NM_006492.3(ALX3):c.346G>C (p.Asp116His) | Inborn genetic diseases [RCV002973103] | uncertain significance | 1 | 110064835 | 110064835 | Human | 1 | name |
| 401743708 | CV2684764 | single nucleotide variant | NM_006492.3(ALX3):c.998A>C (p.Lys333Thr) | Inborn genetic diseases [RCV003252003] | uncertain significance | 1 | 110060767 | 110060767 | Human | 1 | name |
| 401767584 | CV2729771 | single nucleotide variant | NM_006492.3(ALX3):c.662G>A (p.Arg221Gln) | Frontorhiny [RCV004698583]|Inborn genetic diseases [RCV003302261] | likely benign|uncertain significance | 1 | 110061496 | 110061496 | Human | 2 | name |
| 401882877 | CV2788632 | single nucleotide variant | NM_006492.3(ALX3):c.993G>C (p.Lys331Asn) | Inborn genetic diseases [RCV003385940] | uncertain significance | 1 | 110060772 | 110060772 | Human | 1 | name |
| 405067382 | CV3140096 | single nucleotide variant | NM_006492.3(ALX3):c.393C>G (p.Ser131Arg) | not provided [RCV003833251] | uncertain significance | 1 | 110064788 | 110064788 | Human | | name |
| 405688378 | CV3228528 | single nucleotide variant | NM_006492.3(ALX3):c.364C>T (p.Gln122Ter) | Frontorhiny [RCV004006260] | pathogenic | 1 | 110064817 | 110064817 | Human | 1 | name |
| 405816800 | CV3272349 | single nucleotide variant | NM_006492.3(ALX3):c.392G>A (p.Ser131Asn) | Inborn genetic diseases [RCV004411785] | uncertain significance | 1 | 110064789 | 110064789 | Human | 1 | name |
| 405816808 | CV3272357 | single nucleotide variant | NM_006492.3(ALX3):c.510G>T (p.Lys170Asn) | Inborn genetic diseases [RCV004411793] | uncertain significance | 1 | 110064671 | 110064671 | Human | 1 | name |
| 405816811 | CV3272360 | single nucleotide variant | NM_006492.3(ALX3):c.631C>A (p.Arg211Ser) | Inborn genetic diseases [RCV004411796] | uncertain significance | 1 | 110061527 | 110061527 | Human | 1 | name |
| 405816822 | CV3272371 | single nucleotide variant | NM_006492.3(ALX3):c.704G>A (p.Arg235His) | Inborn genetic diseases [RCV004411807] | uncertain significance | 1 | 110061454 | 110061454 | Human | 1 | name |
| 405816831 | CV3272380 | single nucleotide variant | NM_006492.3(ALX3):c.988G>A (p.Val330Ile) | Inborn genetic diseases [RCV004411816] | uncertain significance | 1 | 110060777 | 110060777 | Human | 1 | name |
| 407482519 | CV3453073 | single nucleotide variant | NM_006492.3(ALX3):c.689T>G (p.Ile230Ser) | Inborn genetic diseases [RCV004640160] | uncertain significance | 1 | 110061469 | 110061469 | Human | 1 | name |
| 407482551 | CV3453083 | single nucleotide variant | NM_006492.3(ALX3):c.987G>C (p.Arg329Ser) | Inborn genetic diseases [RCV004640167] | uncertain significance | 1 | 110060778 | 110060778 | Human | 1 | name |
| 407482599 | CV3453094 | single nucleotide variant | NM_006492.3(ALX3):c.416G>A (p.Gly139Glu) | Inborn genetic diseases [RCV004640175] | uncertain significance | 1 | 110064765 | 110064765 | Human | 1 | name |
| 408383024 | CV3504571 | single nucleotide variant | NM_006492.3(ALX3):c.437T>G (p.Leu146Trp) | ALX3-related disorder [RCV004730356]|Inborn genetic diseases [RCV004987196] | uncertain significance | 1 | 110064744 | 110064744 | Human | 2 | name , trait , alternate_id |
| 597685435 | CV3695190 | single nucleotide variant | NM_006492.3(ALX3):c.749C>T (p.Pro250Leu) | Inborn genetic diseases [RCV004983996] | uncertain significance | 1 | 110061016 | 110061016 | Human | 1 | name |
| 597685442 | CV3695210 | single nucleotide variant | NM_006492.3(ALX3):c.869C>G (p.Pro290Arg) | Inborn genetic diseases [RCV004983997] | uncertain significance | 1 | 110060896 | 110060896 | Human | 1 | name |
| 597685450 | CV3695221 | single nucleotide variant | NM_006492.3(ALX3):c.887G>A (p.Gly296Asp) | Inborn genetic diseases [RCV004983998] | uncertain significance | 1 | 110060878 | 110060878 | Human | 1 | name |
| 597685456 | CV3695231 | single nucleotide variant | NM_006492.3(ALX3):c.611G>A (p.Arg204His) | Inborn genetic diseases [RCV004983999] | uncertain significance | 1 | 110061547 | 110061547 | Human | 1 | name |
| 597685461 | CV3695242 | single nucleotide variant | NM_006492.3(ALX3):c.527A>T (p.His176Leu) | Inborn genetic diseases [RCV004984000] | uncertain significance | 1 | 110064654 | 110064654 | Human | 1 | name |
| 597685467 | CV3695251 | single nucleotide variant | NM_006492.3(ALX3):c.516C>A (p.Phe172Leu) | Inborn genetic diseases [RCV004984001] | uncertain significance | 1 | 110064665 | 110064665 | Human | 1 | name |
| 598224181 | CV3892046 | single nucleotide variant | NM_006492.3(ALX3):c.553C>T (p.Gln185Ter) | Frontorhiny [RCV005253385] | pathogenic | 1 | 110064628 | 110064628 | Human | 1 | name |
| 598179237 | CV3975995 | single nucleotide variant | NM_006492.3(ALX3):c.902A>G (p.His301Arg) | Inborn genetic diseases [RCV005352119] | uncertain significance | 1 | 110060863 | 110060863 | Human | 1 | name |
| 598207258 | CV3976008 | single nucleotide variant | NM_006492.3(ALX3):c.661C>T (p.Arg221Trp) | Inborn genetic diseases [RCV005337945] | uncertain significance | 1 | 110061497 | 110061497 | Human | 1 | name |
| 401735541 | CV2699294 | single nucleotide variant | NM_006492.3(ALX3):c.1004C>T (p.Pro335Leu) | Inborn genetic diseases [RCV003291087] | uncertain significance | 1 | 110060761 | 110060761 | Human | 1 | name |
| 21071644 | CV794367 | microsatellite | NM_006492.3(ALX3):c.284AGA[1] (p.Lys96del) | not provided [RCV000994065] | uncertain significance | 1 | 110064892 | 110064894 | Human | | name |
| 8558186 | CV19686 | microsatellite | NM_006492.3(ALX3):c.578_581del (p.Thr193fs) | Frontorhiny [RCV000004910] | pathogenic | 1 | 110064600 | 110064603 | Human | | name |
| 13783908 | CV550573 | deletion | NM_006492.3(ALX3):c.736_737del (p.Leu246fs) | Frontorhiny [RCV000677633] | likely pathogenic | 1 | 110061028 | 110061029 | Human | 1 | name |
| 150509399 | CV1229879 | insertion | NM_006492.3(ALX3):c.*68_*69insCCTGCCTGGACACCACGGAGGAAGCACC | not provided [RCV001636459] | benign | 1 | 110060664 | 110060665 | Human | | name |
