| 150474409 | CV1234446 | single nucleotide variant | NM_001454.4(FOXJ1):c.*189G>A | not provided [RCV001651766] | benign | 17 | 76137164 | 76137164 | Human | | name |
| 150430322 | CV1230822 | duplication | NM_001454.4(FOXJ1):c.499-124dup | not provided [RCV001641371] | benign | 17 | 76138237 | 76138238 | Human | | name |
| 150495795 | CV1225164 | single nucleotide variant | NM_001454.4(FOXJ1):c.-169-173G>C | not provided [RCV001619642] | benign | 17 | 76140737 | 76140737 | Human | | name |
| 405279704 | CV3191470 | single nucleotide variant | NM_001454.4(FOXJ1):c.279G>A (p.Ser93=) | FOXJ1-related disorder [RCV003919624] | likely benign | 17 | 76140117 | 76140117 | Human | | name , trait , alternate_id |
| 405261330 | CV3209830 | single nucleotide variant | NM_001454.4(FOXJ1):c.222C>A (p.Pro74=) | FOXJ1-related disorder [RCV003944495] | likely benign | 17 | 76140174 | 76140174 | Human | | name , trait , alternate_id |
| 407494047 | CV3442727 | single nucleotide variant | NM_001454.4(FOXJ1):c.15G>T (p.Trp5Cys) | Inborn genetic diseases [RCV004621219] | uncertain significance | 17 | 76140381 | 76140381 | Human | 1 | name |
| 597669441 | CV3673193 | single nucleotide variant | NM_001454.4(FOXJ1):c.12C>G (p.Ser4Arg) | Inborn genetic diseases [RCV004980060] | uncertain significance | 17 | 76140384 | 76140384 | Human | 1 | name |
| 597629879 | CV3716291 | single nucleotide variant | NM_001454.4(FOXJ1):c.17T>G (p.Leu6Arg) | Ciliary dyskinesia, primary, 43 [RCV005022767] | uncertain significance | 17 | 76140379 | 76140379 | Human | 1 | name |
| 598222834 | CV3893926 | single nucleotide variant | NM_001454.4(FOXJ1):c.261G>A (p.Thr87=) | not provided [RCV005257169] | likely benign | 17 | 76140135 | 76140135 | Human | | name |
| 150458822 | CV1248997 | single nucleotide variant | NM_001454.4(FOXJ1):c.726G>A (p.Thr242=) | not provided [RCV001669174] | benign | 17 | 76137893 | 76137893 | Human | | name |
| 401914819 | CV2808409 | single nucleotide variant | NM_001454.4(FOXJ1):c.52G>A (p.Gly18Arg) | not provided [RCV003428485] | uncertain significance | 17 | 76140344 | 76140344 | Human | | name |
| 405274338 | CV3211727 | single nucleotide variant | NM_001454.4(FOXJ1):c.732T>C (p.Asn244=) | FOXJ1-related disorder [RCV003951527] | likely benign | 17 | 76137887 | 76137887 | Human | | name , trait , alternate_id |
| 408380428 | CV3517874 | single nucleotide variant | NM_001454.4(FOXJ1):c.798C>T (p.Gly266=) | FOXJ1-related disorder [RCV004754218] | likely benign | 17 | 76137821 | 76137821 | Human | | name , trait , alternate_id |
| 596938263 | CV3550070 | duplication | NM_001454.4(FOXJ1):c.223dup (p.Leu75fs) | Ciliary dyskinesia, primary, 43 [RCV004813375] | likely pathogenic | 17 | 76140172 | 76140173 | Human | 1 | name |
| 598217011 | CV3973852 | single nucleotide variant | NM_001454.4(FOXJ1):c.28G>A (p.Gly10Arg) | Inborn genetic diseases [RCV005339951] | uncertain significance | 17 | 76140368 | 76140368 | Human | 1 | name |
| 151235041 | CV1318300 | deletion | NM_001454.4(FOXJ1):c.837del (p.Lys280fs) | not provided [RCV001794623] | uncertain significance | 17 | 76137782 | 76137782 | Human | | name |
| 156232987 | CV2245215 | single nucleotide variant | NM_001454.4(FOXJ1):c.233A>C (p.Asp78Ala) | Inborn genetic diseases [RCV002767774] | uncertain significance | 17 | 76140163 | 76140163 | Human | 1 | name |
| 156277852 | CV2252036 | single nucleotide variant | NM_001454.4(FOXJ1):c.289T>G (p.Ser97Ala) | Inborn genetic diseases [RCV002792887] | uncertain significance | 17 | 76140107 | 76140107 | Human | 1 | name |
| 401936374 | CV2803214 | deletion | NM_001454.4(FOXJ1):c.832del (p.Leu278fs) | FOXJ1-related disorder [RCV003414355] | likely pathogenic | 17 | 76137787 | 76137787 | Human | | name , trait , alternate_id |
| 405161575 | CV2950390 | single nucleotide variant | NM_001454.4(FOXJ1):c.269A>G (p.Lys90Arg) | not provided [RCV003674721] | uncertain significance | 17 | 76140127 | 76140127 | Human | | name |
| 405274337 | CV3195093 | single nucleotide variant | NM_001454.4(FOXJ1):c.1086G>A (p.Ser362=) | FOXJ1-related disorder [RCV003902331] | likely benign | 17 | 76137533 | 76137533 | Human | | name , trait , alternate_id |
| 405744499 | CV3226118 | duplication | NM_001454.4(FOXJ1):c.913dup (p.Leu305fs) | Ciliary dyskinesia, primary, 43 [RCV003991109] | likely pathogenic | 17 | 76137705 | 76137706 | Human | 1 | name |
| 405747889 | CV3254022 | single nucleotide variant | NM_001454.4(FOXJ1):c.146C>T (p.Ala49Val) | Inborn genetic diseases [RCV004392287] | uncertain significance | 17 | 76140250 | 76140250 | Human | 1 | name |
| 407494041 | CV3442725 | single nucleotide variant | NM_001454.4(FOXJ1):c.289T>A (p.Ser97Thr) | Inborn genetic diseases [RCV004621217] | uncertain significance | 17 | 76140107 | 76140107 | Human | 1 | name |
| 408385191 | CV3505776 | single nucleotide variant | NM_001454.4(FOXJ1):c.161C>T (p.Pro54Leu) | FOXJ1-related disorder [RCV004732425] | uncertain significance | 17 | 76140235 | 76140235 | Human | | name , trait , alternate_id |
| 408366162 | CV3515605 | single nucleotide variant | NM_001454.4(FOXJ1):c.1023C>T (p.His341=) | FOXJ1-related disorder [RCV004755593] | likely benign | 17 | 76137596 | 76137596 | Human | | name , trait , alternate_id |
| 408366206 | CV3516851 | single nucleotide variant | NM_001454.4(FOXJ1):c.194T>C (p.Val65Ala) | FOXJ1-related disorder [RCV004755687] | uncertain significance | 17 | 76140202 | 76140202 | Human | | name , trait , alternate_id |
| 597669429 | CV3673191 | single nucleotide variant | NM_001454.4(FOXJ1):c.192G>C (p.Gln64His) | Inborn genetic diseases [RCV004980058] | uncertain significance | 17 | 76140204 | 76140204 | Human | 1 | name |
| 597669436 | CV3673192 | single nucleotide variant | NM_001454.4(FOXJ1):c.187C>G (p.His63Asp) | Inborn genetic diseases [RCV004980059] | uncertain significance | 17 | 76140209 | 76140209 | Human | 1 | name |
| 597669453 | CV3673195 | single nucleotide variant | NM_001454.4(FOXJ1):c.293G>C (p.Arg98Pro) | Inborn genetic diseases [RCV004980062] | uncertain significance | 17 | 76140103 | 76140103 | Human | 1 | name |
| 597669463 | CV3673198 | single nucleotide variant | NM_001454.4(FOXJ1):c.224T>C (p.Leu75Pro) | Inborn genetic diseases [RCV004980064] | uncertain significance | 17 | 76140172 | 76140172 | Human | 1 | name |
| 597656495 | CV3731581 | single nucleotide variant | NM_001454.4(FOXJ1):c.174C>A (p.Asp58Glu) | not provided [RCV005001762] | uncertain significance | 17 | 76140222 | 76140222 | Human | | name |
| 598216997 | CV3973850 | single nucleotide variant | NM_001454.4(FOXJ1):c.293G>A (p.Arg98Gln) | Inborn genetic diseases [RCV005339949] | uncertain significance | 17 | 76140103 | 76140103 | Human | 1 | name |
| 598177379 | CV4008284 | single nucleotide variant | NM_001454.4(FOXJ1):c.280T>C (p.Ser94Pro) | Ciliary dyskinesia, primary, 43 [RCV005393802] | uncertain significance | 17 | 76140116 | 76140116 | Human | 1 | name |
| 15146927 | CV788387 | deletion | NM_001454.4(FOXJ1):c.967del (p.Glu323fs) | Ciliary dyskinesia, primary, 43 [RCV000983976] | pathogenic | 17 | 76137652 | 76137652 | Human | 1 | name |
| 151235149 | CV1318410 | single nucleotide variant | NM_001454.4(FOXJ1):c.958C>G (p.Leu320Val) | not provided [RCV001794733] | uncertain significance | 17 | 76137661 | 76137661 | Human | | name |
| 156228366 | CV2199401 | single nucleotide variant | NM_001454.4(FOXJ1):c.973G>C (p.Gly325Arg) | Inborn genetic diseases [RCV002644783] | uncertain significance | 17 | 76137646 | 76137646 | Human | 1 | name |
| 156370658 | CV2204278 | single nucleotide variant | NM_001454.4(FOXJ1):c.857C>T (p.Pro286Leu) | Inborn genetic diseases [RCV002652780] | uncertain significance | 17 | 76137762 | 76137762 | Human | 1 | name |
| 155916959 | CV2278466 | single nucleotide variant | NM_001454.4(FOXJ1):c.740C>T (p.Ala247Val) | Inborn genetic diseases [RCV002859103] | uncertain significance | 17 | 76137879 | 76137879 | Human | 1 | name |
| 156290341 | CV2309814 | single nucleotide variant | NM_001454.4(FOXJ1):c.887C>T (p.Pro296Leu) | Inborn genetic diseases [RCV002897130] | uncertain significance | 17 | 76137732 | 76137732 | Human | 1 | name |
| 329387126 | CV2436277 | single nucleotide variant | NM_001454.4(FOXJ1):c.859C>T (p.Arg287Trp) | Inborn genetic diseases [RCV003189969] | uncertain significance | 17 | 76137760 | 76137760 | Human | 1 | name |
| 401748869 | CV2694523 | single nucleotide variant | NM_001454.4(FOXJ1):c.709C>G (p.Arg237Gly) | Inborn genetic diseases [RCV003253198] | uncertain significance | 17 | 76137910 | 76137910 | Human | 1 | name |
| 401770691 | CV2707351 | single nucleotide variant | NM_001454.4(FOXJ1):c.709C>T (p.Arg237Trp) | Inborn genetic diseases [RCV003261187] | likely benign | 17 | 76137910 | 76137910 | Human | 1 | name |
| 401948047 | CV2832162 | single nucleotide variant | NM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu) | Ciliary dyskinesia, primary, 43 [RCV003447687] | uncertain significance | 17 | 76139993 | 76139993 | Human | 1 | name |
| 405274049 | CV3194969 | single nucleotide variant | NM_001454.4(FOXJ1):c.782C>T (p.Ala261Val) | FOXJ1-related disorder [RCV003902211] | likely benign | 17 | 76137837 | 76137837 | Human | | name , trait , alternate_id |
| 405275413 | CV3204700 | single nucleotide variant | NM_001454.4(FOXJ1):c.725C>T (p.Thr242Met) | FOXJ1-related disorder [RCV003952095] | likely benign | 17 | 76137894 | 76137894 | Human | | name , trait , alternate_id |
| 405271934 | CV3206254 | single nucleotide variant | NM_001454.4(FOXJ1):c.331G>A (p.Asp111Asn) | FOXJ1-related disorder [RCV003971897] | likely benign | 17 | 76140065 | 76140065 | Human | | name , trait , alternate_id |
| 405710643 | CV3225710 | single nucleotide variant | NM_001454.4(FOXJ1):c.722T>C (p.Leu241Pro) | Ciliary dyskinesia, primary, 43 [RCV003990768] | uncertain significance | 17 | 76137897 | 76137897 | Human | 1 | name |
| 405747896 | CV3254023 | single nucleotide variant | NM_001454.4(FOXJ1):c.586C>T (p.Arg196Cys) | Inborn genetic diseases [RCV004392288] | uncertain significance | 17 | 76138033 | 76138033 | Human | 1 | name |
| 405747902 | CV3254024 | single nucleotide variant | NM_001454.4(FOXJ1):c.625G>A (p.Ala209Thr) | Inborn genetic diseases [RCV004392289] | uncertain significance | 17 | 76137994 | 76137994 | Human | 1 | name |
| 405747909 | CV3254025 | single nucleotide variant | NM_001454.4(FOXJ1):c.682G>T (p.Ala228Ser) | Inborn genetic diseases [RCV004392290] | uncertain significance | 17 | 76137937 | 76137937 | Human | 1 | name |
| 405747915 | CV3254026 | single nucleotide variant | NM_001454.4(FOXJ1):c.949G>T (p.Ala317Ser) | Inborn genetic diseases [RCV004392291] | uncertain significance | 17 | 76137670 | 76137670 | Human | 1 | name |
| 407453403 | CV3414879 | deletion | NM_001454.4(FOXJ1):c.1129del (p.Leu377fs) | Ciliary dyskinesia, primary, 43 [RCV004597215] | not provided | 17 | 76137490 | 76137490 | Human | | name |
| 407494043 | CV3442726 | single nucleotide variant | NM_001454.4(FOXJ1):c.676C>A (p.Arg226Ser) | Inborn genetic diseases [RCV004621218] | uncertain significance | 17 | 76137943 | 76137943 | Human | 1 | name |
| 408365660 | CV3508261 | single nucleotide variant | NM_001454.4(FOXJ1):c.322C>T (p.Pro108Ser) | FOXJ1-related disorder [RCV004755124]|Inborn genetic diseases [RCV004981184] | likely benign|uncertain significance | 17 | 76140074 | 76140074 | Human | 2 | name , trait , alternate_id |
| 408365984 | CV3512677 | single nucleotide variant | NM_001454.4(FOXJ1):c.821G>A (p.Arg274His) | FOXJ1-related disorder [RCV004755435] | uncertain significance | 17 | 76137798 | 76137798 | Human | | name , trait , alternate_id |
| 596933061 | CV3539691 | single nucleotide variant | NM_001454.4(FOXJ1):c.625G>C (p.Ala209Pro) | not provided [RCV004794316] | uncertain significance | 17 | 76137994 | 76137994 | Human | | name |
| 596933062 | CV3539692 | single nucleotide variant | NM_001454.4(FOXJ1):c.332A>G (p.Asp111Gly) | not provided [RCV004794317] | uncertain significance | 17 | 76140064 | 76140064 | Human | | name |
| 597669424 | CV3673190 | single nucleotide variant | NM_001454.4(FOXJ1):c.676C>T (p.Arg226Cys) | Inborn genetic diseases [RCV004980057] | uncertain significance | 17 | 76137943 | 76137943 | Human | 1 | name |
| 597669447 | CV3673194 | single nucleotide variant | NM_001454.4(FOXJ1):c.841C>T (p.Arg281Trp) | Inborn genetic diseases [RCV004980061] | uncertain significance | 17 | 76137778 | 76137778 | Human | 1 | name |
| 597669458 | CV3673196 | single nucleotide variant | NM_001454.4(FOXJ1):c.485A>T (p.Asp162Val) | Inborn genetic diseases [RCV004980063] | uncertain significance | 17 | 76139911 | 76139911 | Human | 1 | name |
| 597669471 | CV3673199 | single nucleotide variant | NM_001454.4(FOXJ1):c.850A>G (p.Lys284Glu) | Inborn genetic diseases [RCV004980065] | uncertain significance | 17 | 76137769 | 76137769 | Human | 1 | name |
| 597669478 | CV3673200 | single nucleotide variant | NM_001454.4(FOXJ1):c.755G>A (p.Arg252Gln) | Inborn genetic diseases [RCV004980066] | uncertain significance | 17 | 76137864 | 76137864 | Human | 1 | name |
| 598217004 | CV3973851 | single nucleotide variant | NM_001454.4(FOXJ1):c.724A>G (p.Thr242Ala) | Inborn genetic diseases [RCV005339950] | uncertain significance | 17 | 76137895 | 76137895 | Human | 1 | name |
| 598217025 | CV3973855 | single nucleotide variant | NM_001454.4(FOXJ1):c.559G>A (p.Asp187Asn) | Inborn genetic diseases [RCV005339954] | uncertain significance | 17 | 76138060 | 76138060 | Human | 1 | name |
| 617150715 | CV4018816 | single nucleotide variant | NM_001454.4(FOXJ1):c.509G>A (p.Arg170His) | not provided [RCV005423224] | uncertain significance | 17 | 76138110 | 76138110 | Human | | name |
| 15146921 | CV788384 | single nucleotide variant | NM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter) | Ciliary dyskinesia, primary, 43 [RCV000983973] | pathogenic | 17 | 76137718 | 76137718 | Human | 1 | name |
| 15146923 | CV788386 | single nucleotide variant | NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter) | Ciliary dyskinesia, primary, 43 [RCV000983975]|not provided [RCV003329352] | pathogenic | 17 | 76137793 | 76137793 | Human | 1 | name |
| 155800745 | CV1860234 | single nucleotide variant | NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr) | Ciliary dyskinesia, primary, 43 [RCV002466875]|Inborn genetic diseases [RCV004067558] | likely benign|uncertain significance | 17 | 76137604 | 76137604 | Human | 2 | name |
| 156140444 | CV2202981 | single nucleotide variant | NM_001454.4(FOXJ1):c.1036C>G (p.Leu346Val) | Inborn genetic diseases [RCV002641242] | uncertain significance | 17 | 76137583 | 76137583 | Human | 1 | name |
| 156102019 | CV2260385 | single nucleotide variant | NM_001454.4(FOXJ1):c.1129C>G (p.Leu377Val) | Inborn genetic diseases [RCV002799187] | uncertain significance | 17 | 76137490 | 76137490 | Human | 1 | name |
| 155985348 | CV2282273 | single nucleotide variant | NM_001454.4(FOXJ1):c.1220T>G (p.Leu407Arg) | Inborn genetic diseases [RCV002864030] | uncertain significance | 17 | 76137399 | 76137399 | Human | 1 | name |
| 156170627 | CV2296840 | single nucleotide variant | NM_001454.4(FOXJ1):c.1210G>A (p.Asp404Asn) | Inborn genetic diseases [RCV002891381] | uncertain significance | 17 | 76137409 | 76137409 | Human | 1 | name |
| 155955605 | CV2303929 | single nucleotide variant | NM_001454.4(FOXJ1):c.1051C>T (p.Arg351Cys) | Inborn genetic diseases [RCV002905526] | uncertain significance | 17 | 76137568 | 76137568 | Human | 1 | name |
| 156383271 | CV2361476 | single nucleotide variant | NM_001454.4(FOXJ1):c.1111G>A (p.Asp371Asn) | Inborn genetic diseases [RCV002679155] | uncertain significance | 17 | 76137508 | 76137508 | Human | 1 | name |
| 401907525 | CV2801144 | single nucleotide variant | NM_001454.4(FOXJ1):c.1116C>G (p.Phe372Leu) | FOXJ1-related disorder [RCV003397385] | uncertain significance | 17 | 76137503 | 76137503 | Human | | name , trait , alternate_id |
| 405289976 | CV3219151 | single nucleotide variant | NM_001454.4(FOXJ1):c.1263G>T (p.Leu421Phe) | FOXJ1-related disorder [RCV003962065] | likely benign | 17 | 76137356 | 76137356 | Human | | name , trait , alternate_id |
| 405747853 | CV3254017 | single nucleotide variant | NM_001454.4(FOXJ1):c.1024G>A (p.Val342Met) | Inborn genetic diseases [RCV004392282] | uncertain significance | 17 | 76137595 | 76137595 | Human | 1 | name |
| 405747860 | CV3254018 | single nucleotide variant | NM_001454.4(FOXJ1):c.1048G>A (p.Gly350Ser) | Inborn genetic diseases [RCV004392283] | uncertain significance | 17 | 76137571 | 76137571 | Human | 1 | name |
| 405747866 | CV3254019 | single nucleotide variant | NM_001454.4(FOXJ1):c.1148A>C (p.Gln383Pro) | Inborn genetic diseases [RCV004392284] | uncertain significance | 17 | 76137471 | 76137471 | Human | 1 | name |
| 405747874 | CV3254020 | single nucleotide variant | NM_001454.4(FOXJ1):c.1239C>G (p.Asp413Glu) | Inborn genetic diseases [RCV004392285] | uncertain significance | 17 | 76137380 | 76137380 | Human | 1 | name |
| 405747881 | CV3254021 | single nucleotide variant | NM_001454.4(FOXJ1):c.1249G>A (p.Val417Met) | Inborn genetic diseases [RCV004392286] | uncertain significance | 17 | 76137370 | 76137370 | Human | 1 | name |
| 408383690 | CV3506832 | single nucleotide variant | NM_001454.4(FOXJ1):c.1111G>C (p.Asp371His) | FOXJ1-related disorder [RCV004730725] | uncertain significance | 17 | 76137508 | 76137508 | Human | | name , trait , alternate_id |
| 596946216 | CV3550478 | single nucleotide variant | NM_001454.4(FOXJ1):c.1237G>T (p.Asp413Tyr) | Ciliary dyskinesia, primary, 43 [RCV004819019] | uncertain significance | 17 | 76137382 | 76137382 | Human | 1 | name |
| 598217016 | CV3973853 | single nucleotide variant | NM_001454.4(FOXJ1):c.1126T>C (p.Phe376Leu) | Inborn genetic diseases [RCV005339952] | uncertain significance | 17 | 76137493 | 76137493 | Human | 1 | name |
| 598217019 | CV3973854 | single nucleotide variant | NM_001454.4(FOXJ1):c.1051C>G (p.Arg351Gly) | Inborn genetic diseases [RCV005339953] | uncertain significance | 17 | 76137568 | 76137568 | Human | 1 | name |
| 598217028 | CV3973856 | single nucleotide variant | NM_001454.4(FOXJ1):c.1195C>G (p.Leu399Val) | Inborn genetic diseases [RCV005339955] | uncertain significance | 17 | 76137424 | 76137424 | Human | 1 | name |
| 15173331 | CV788385 | duplication | NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs) | Ciliary dyskinesia, primary, 43 [RCV000983974] | pathogenic | 17 | 76137747 | 76137748 | Human | 1 | name |
| 408384751 | CV3504563 | deletion | NM_001454.4(FOXJ1):c.464_466del (p.Phe155del) | FOXJ1-related disorder [RCV004732002] | uncertain significance | 17 | 76139930 | 76139932 | Human | | name , trait , alternate_id |
| 407424969 | CV3411017 | duplication | NM_001454.4(FOXJ1):c.1022_1040dup (p.Ile348fs) | not provided [RCV004588707] | uncertain significance | 17 | 76137578 | 76137579 | Human | | name |