| 597707542 | CV3719752 | deletion | NM_173348.2(FAM149B1):c.898+1del | Joubert syndrome 36 [RCV005048333] | likely pathogenic | 10 | 73210438 | 73210438 | Human | 1 | name |
| 405854512 | CV3393100 | single nucleotide variant | NM_173348.2(FAM149B1):c.1128-2A>G | not specified [RCV004527257] | uncertain significance | 10 | 73232937 | 73232937 | Human | | name |
| 405867814 | CV3396636 | single nucleotide variant | NM_173348.2(FAM149B1):c.1127+1G>A | Joubert syndrome 36 [RCV004560508] | pathogenic | 10 | 73230526 | 73230526 | Human | 1 | name |
| 329952854 | CV2670199 | single nucleotide variant | NM_173348.2(FAM149B1):c.1023+35G>T | not provided [RCV003233409] | uncertain significance | 10 | 73228219 | 73228219 | Human | | name |
| 405677586 | CV3308087 | single nucleotide variant | NM_173348.2(FAM149B1):c.2T>G (p.Met1Arg) | Joubert syndrome 36 [RCV004442736]|not specified [RCV004701908] | uncertain significance | 10 | 73168341 | 73168341 | Human | 1 | name |
| 401912762 | CV2829983 | single nucleotide variant | NM_173348.2(FAM149B1):c.234C>T (p.Gly78=) | not provided [RCV003441197] | uncertain significance | 10 | 73177927 | 73177927 | Human | | name |
| 156195041 | CV2223396 | single nucleotide variant | NM_173348.2(FAM149B1):c.55A>T (p.Ile19Leu) | not specified [RCV004105984] | uncertain significance | 10 | 73174694 | 73174694 | Human | | name |
| 401938401 | CV2809369 | single nucleotide variant | NM_173348.2(FAM149B1):c.300C>T (p.Ala100=) | not provided [RCV003417497] | likely benign | 10 | 73192573 | 73192573 | Human | | name |
| 401938402 | CV2809370 | single nucleotide variant | NM_173348.2(FAM149B1):c.585T>C (p.Tyr195=) | not provided [RCV003417498] | likely benign | 10 | 73208661 | 73208661 | Human | | name |
| 401938403 | CV2809371 | single nucleotide variant | NM_173348.2(FAM149B1):c.621C>T (p.Ser207=) | not provided [RCV003417499] | likely benign | 10 | 73208697 | 73208697 | Human | | name |
| 401943174 | CV2839921 | single nucleotide variant | NM_173348.2(FAM149B1):c.660C>A (p.Ile220=) | not provided [RCV003456708] | likely benign | 10 | 73208736 | 73208736 | Human | | name |
| 155641356 | CV1709675 | single nucleotide variant | NM_173348.2(FAM149B1):c.1551G>A (p.Arg517=) | not provided [RCV002292775] | likely benign | 10 | 73235267 | 73235267 | Human | | name |
| 156346157 | CV2377933 | single nucleotide variant | NM_173348.2(FAM149B1):c.187T>G (p.Ser63Ala) | FAM149B1-related disorder [RCV003396878]|not specified [RCV004230499] | uncertain significance | 10 | 73177880 | 73177880 | Human | 1 | name , trait , alternate_id |
| 329378292 | CV2446924 | single nucleotide variant | NM_173348.2(FAM149B1):c.179C>G (p.Ser60Cys) | not specified [RCV004257770] | uncertain significance | 10 | 73177872 | 73177872 | Human | | name |
| 401740963 | CV2679844 | single nucleotide variant | NM_173348.2(FAM149B1):c.178T>C (p.Ser60Pro) | not specified [RCV004282299] | likely benign | 10 | 73177871 | 73177871 | Human | | name |
| 401797267 | CV2742099 | single nucleotide variant | NM_173348.2(FAM149B1):c.1023G>C (p.Pro341=) | not specified [RCV003324277] | uncertain significance | 10 | 73228184 | 73228184 | Human | | name |
| 401889716 | CV2758401 | single nucleotide variant | NM_173348.2(FAM149B1):c.173A>C (p.Glu58Ala) | not specified [RCV004335061] | uncertain significance | 10 | 73177866 | 73177866 | Human | | name |
| 401938405 | CV2809373 | single nucleotide variant | NM_173348.2(FAM149B1):c.1482C>T (p.Pro494=) | not provided [RCV003417501] | likely benign | 10 | 73235198 | 73235198 | Human | | name |
| 401943170 | CV2839922 | single nucleotide variant | NM_173348.2(FAM149B1):c.1485T>C (p.His495=) | not provided [RCV003456709] | likely benign | 10 | 73235201 | 73235201 | Human | | name |
| 405260549 | CV3185804 | single nucleotide variant | NM_173348.2(FAM149B1):c.1626A>G (p.Ser542=) | not provided [RCV003884880] | likely benign | 10 | 73239335 | 73239335 | Human | | name |
| 405271096 | CV3209297 | single nucleotide variant | NM_173348.2(FAM149B1):c.1389G>A (p.Pro463=) | FAM149B1-related disorder [RCV003949649] | likely benign | 10 | 73234853 | 73234853 | Human | | name , trait , alternate_id |
| 405727152 | CV3259876 | single nucleotide variant | NM_173348.2(FAM149B1):c.166A>G (p.Thr56Ala) | not specified [RCV004378757] | uncertain significance | 10 | 73177859 | 73177859 | Human | | name |
| 156334939 | CV2263575 | single nucleotide variant | NM_173348.2(FAM149B1):c.413T>G (p.Phe138Cys) | not specified [RCV004133798] | uncertain significance | 10 | 73192686 | 73192686 | Human | | name |
| 156297462 | CV2310526 | single nucleotide variant | NM_173348.2(FAM149B1):c.515C>A (p.Thr172Asn) | not specified [RCV004163548] | uncertain significance | 10 | 73193566 | 73193566 | Human | | name |
| 156182118 | CV2353130 | single nucleotide variant | NM_173348.2(FAM149B1):c.931G>A (p.Asp311Asn) | not specified [RCV004203609] | likely benign | 10 | 73228092 | 73228092 | Human | | name |
| 401749072 | CV2694561 | single nucleotide variant | NM_173348.2(FAM149B1):c.518T>C (p.Leu173Ser) | not specified [RCV004298686] | uncertain significance | 10 | 73193569 | 73193569 | Human | | name |
| 401872248 | CV2793049 | single nucleotide variant | NM_173348.2(FAM149B1):c.515C>T (p.Thr172Ile) | not specified [RCV004360379] | uncertain significance | 10 | 73193566 | 73193566 | Human | | name |
| 405727160 | CV3259877 | single nucleotide variant | NM_173348.2(FAM149B1):c.410G>A (p.Ser137Asn) | not specified [RCV004378758] | uncertain significance | 10 | 73192683 | 73192683 | Human | | name |
| 405727168 | CV3259878 | single nucleotide variant | NM_173348.2(FAM149B1):c.499G>A (p.Ala167Thr) | not specified [RCV004378759] | uncertain significance | 10 | 73193550 | 73193550 | Human | | name |
| 405727174 | CV3259879 | single nucleotide variant | NM_173348.2(FAM149B1):c.713A>T (p.Glu238Val) | not specified [RCV004378760] | uncertain significance | 10 | 73210253 | 73210253 | Human | | name |
| 405727185 | CV3259880 | single nucleotide variant | NM_173348.2(FAM149B1):c.789T>G (p.Phe263Leu) | not specified [RCV004378761] | uncertain significance | 10 | 73210329 | 73210329 | Human | | name |
| 405727201 | CV3259882 | single nucleotide variant | NM_173348.2(FAM149B1):c.848T>C (p.Val283Ala) | not specified [RCV004378763] | uncertain significance | 10 | 73210388 | 73210388 | Human | | name |
| 405727211 | CV3259883 | single nucleotide variant | NM_173348.2(FAM149B1):c.917C>A (p.Ala306Glu) | not specified [RCV004378764] | uncertain significance | 10 | 73228078 | 73228078 | Human | | name |
| 407508099 | CV3435498 | single nucleotide variant | NM_173348.2(FAM149B1):c.349G>A (p.Glu117Lys) | not specified [RCV004625303] | uncertain significance | 10 | 73192622 | 73192622 | Human | | name |
| 407508106 | CV3435500 | single nucleotide variant | NM_173348.2(FAM149B1):c.602C>G (p.Ser201Cys) | not specified [RCV004625305] | uncertain significance | 10 | 73208678 | 73208678 | Human | | name |
| 597737618 | CV3668585 | single nucleotide variant | NM_173348.2(FAM149B1):c.448A>C (p.Thr150Pro) | not specified [RCV004920869] | uncertain significance | 10 | 73193499 | 73193499 | Human | | name |
| 598224979 | CV3965909 | single nucleotide variant | NM_173348.2(FAM149B1):c.906G>C (p.Glu302Asp) | not specified [RCV005341372] | uncertain significance | 10 | 73228067 | 73228067 | Human | | name |
| 21404269 | CV799079 | single nucleotide variant | NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter) | Joubert syndrome 36 [RCV000999700] | pathogenic | 10 | 73193490 | 73193490 | Human | 1 | name |
| 155940068 | CV2221939 | single nucleotide variant | NM_173348.2(FAM149B1):c.1589C>G (p.Thr530Ser) | not specified [RCV004102947] | uncertain significance | 10 | 73235305 | 73235305 | Human | | name |
| 155917873 | CV2275093 | single nucleotide variant | NM_173348.2(FAM149B1):c.1212T>G (p.Phe404Leu) | not specified [RCV004136902] | likely benign | 10 | 73233023 | 73233023 | Human | | name |
| 155970932 | CV2309240 | single nucleotide variant | NM_173348.2(FAM149B1):c.1345G>A (p.Ala449Thr) | not specified [RCV004165410] | uncertain significance | 10 | 73233156 | 73233156 | Human | | name |
| 156249527 | CV2314165 | single nucleotide variant | NM_173348.2(FAM149B1):c.1093C>G (p.Gln365Glu) | not specified [RCV004166248] | uncertain significance | 10 | 73230491 | 73230491 | Human | | name |
| 156302973 | CV2329344 | single nucleotide variant | NM_173348.2(FAM149B1):c.1643C>T (p.Pro548Leu) | not specified [RCV004187363] | uncertain significance | 10 | 73239352 | 73239352 | Human | | name |
| 155901194 | CV2345755 | single nucleotide variant | NM_173348.2(FAM149B1):c.1349G>A (p.Arg450Gln) | not specified [RCV004205689] | uncertain significance | 10 | 73233160 | 73233160 | Human | | name |
| 155923216 | CV2347462 | single nucleotide variant | NM_173348.2(FAM149B1):c.1618C>T (p.Arg540Cys) | not specified [RCV004200413] | uncertain significance | 10 | 73239327 | 73239327 | Human | | name |
| 156285240 | CV2349082 | single nucleotide variant | NM_173348.2(FAM149B1):c.1516G>A (p.Val506Met) | not specified [RCV004205519] | uncertain significance | 10 | 73235232 | 73235232 | Human | | name |
| 156255359 | CV2358998 | single nucleotide variant | NM_173348.2(FAM149B1):c.1237G>A (p.Val413Met) | not specified [RCV004212325] | uncertain significance | 10 | 73233048 | 73233048 | Human | | name |
| 156305416 | CV2369472 | single nucleotide variant | NM_173348.2(FAM149B1):c.1022C>T (p.Pro341Leu) | not specified [RCV004210409] | uncertain significance | 10 | 73228183 | 73228183 | Human | | name |
| 155929552 | CV2369776 | single nucleotide variant | NM_173348.2(FAM149B1):c.1345G>C (p.Ala449Pro) | not specified [RCV004215163] | uncertain significance | 10 | 73233156 | 73233156 | Human | | name |
| 155938344 | CV2380703 | single nucleotide variant | NM_173348.2(FAM149B1):c.1255C>T (p.Arg419Cys) | not specified [RCV004218283] | uncertain significance | 10 | 73233066 | 73233066 | Human | | name |
| 329367754 | CV2427541 | single nucleotide variant | NM_173348.2(FAM149B1):c.1391C>A (p.Thr464Lys) | not specified [RCV004250179] | uncertain significance | 10 | 73234855 | 73234855 | Human | | name |
| 329390815 | CV2455500 | single nucleotide variant | NM_173348.2(FAM149B1):c.1648C>A (p.Gln550Lys) | not specified [RCV004276766] | uncertain significance | 10 | 73239357 | 73239357 | Human | | name |
| 329398169 | CV2466633 | single nucleotide variant | NM_173348.2(FAM149B1):c.1184G>A (p.Arg395Gln) | not specified [RCV004274155] | uncertain significance | 10 | 73232995 | 73232995 | Human | | name |
| 329952855 | CV2670200 | single nucleotide variant | NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter) | Joubert syndrome 36 [RCV003233410] | likely pathogenic | 10 | 73232994 | 73232994 | Human | 1 | name |
| 401734500 | CV2688544 | single nucleotide variant | NM_173348.2(FAM149B1):c.1631C>T (p.Ala544Val) | not specified [RCV004301508] | uncertain significance | 10 | 73239340 | 73239340 | Human | | name |
| 401938404 | CV2809372 | single nucleotide variant | NM_173348.2(FAM149B1):c.1028G>C (p.Ser343Thr) | not provided [RCV003417500] | likely benign | 10 | 73230426 | 73230426 | Human | | name |
| 404998153 | CV2850077 | single nucleotide variant | NM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly) | Joubert syndrome 36 [RCV003492999] | uncertain significance | 10 | 73233000 | 73233000 | Human | 1 | name |
| 405293006 | CV3207166 | single nucleotide variant | NM_173348.2(FAM149B1):c.1417C>T (p.Pro473Ser) | FAM149B1-related disorder [RCV003931572] | likely benign | 10 | 73234881 | 73234881 | Human | | name , trait , alternate_id |
| 405706431 | CV3224837 | single nucleotide variant | NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter) | Joubert syndrome 36 [RCV003990217] | likely pathogenic | 10 | 73234866 | 73234866 | Human | 1 | name |
| 405727082 | CV3259868 | single nucleotide variant | NM_173348.2(FAM149B1):c.1068T>G (p.Asp356Glu) | not specified [RCV004378749] | uncertain significance | 10 | 73230466 | 73230466 | Human | | name |
| 405727087 | CV3259869 | single nucleotide variant | NM_173348.2(FAM149B1):c.1079A>G (p.His360Arg) | not specified [RCV004378750] | uncertain significance | 10 | 73230477 | 73230477 | Human | | name |
| 405727095 | CV3259870 | single nucleotide variant | NM_173348.2(FAM149B1):c.1106T>G (p.Leu369Arg) | not specified [RCV004378751] | uncertain significance | 10 | 73230504 | 73230504 | Human | | name |
| 405727107 | CV3259871 | single nucleotide variant | NM_173348.2(FAM149B1):c.1188T>G (p.Asn396Lys) | not specified [RCV004378752] | uncertain significance | 10 | 73232999 | 73232999 | Human | | name |
| 405727617 | CV3259873 | single nucleotide variant | NM_173348.2(FAM149B1):c.1199G>A (p.Arg400Gln) | not specified [RCV004378754] | uncertain significance | 10 | 73233010 | 73233010 | Human | | name |
| 405727134 | CV3259874 | single nucleotide variant | NM_173348.2(FAM149B1):c.1273A>G (p.Thr425Ala) | not specified [RCV004378755] | uncertain significance | 10 | 73233084 | 73233084 | Human | | name |
| 405727143 | CV3259875 | single nucleotide variant | NM_173348.2(FAM149B1):c.1343G>A (p.Gly448Glu) | not specified [RCV004378756] | uncertain significance | 10 | 73233154 | 73233154 | Human | | name |
| 405867844 | CV3396602 | single nucleotide variant | NM_173348.2(FAM149B1):c.1198C>T (p.Arg400Ter) | Joubert syndrome 36 [RCV004560473] | pathogenic | 10 | 73233009 | 73233009 | Human | 1 | name |
| 407508102 | CV3435499 | single nucleotide variant | NM_173348.2(FAM149B1):c.1489G>A (p.Asp497Asn) | not specified [RCV004625304] | uncertain significance | 10 | 73235205 | 73235205 | Human | | name |
| 408381872 | CV3502034 | single nucleotide variant | NM_173348.2(FAM149B1):c.1610C>T (p.Thr537Ile) | not provided [RCV004729562] | uncertain significance | 10 | 73239319 | 73239319 | Human | | name |
| 408391574 | CV3528001 | single nucleotide variant | NM_173348.2(FAM149B1):c.1192C>T (p.Pro398Ser) | not provided [RCV004775273] | uncertain significance | 10 | 73233003 | 73233003 | Human | | name |
| 597737630 | CV3668587 | single nucleotide variant | NM_173348.2(FAM149B1):c.1597T>C (p.Phe533Leu) | not specified [RCV004920871] | uncertain significance | 10 | 73235313 | 73235313 | Human | | name |
| 597737635 | CV3668588 | single nucleotide variant | NM_173348.2(FAM149B1):c.1117G>C (p.Asp373His) | not specified [RCV004920872] | uncertain significance | 10 | 73230515 | 73230515 | Human | | name |
| 597737639 | CV3668589 | single nucleotide variant | NM_173348.2(FAM149B1):c.1004T>C (p.Leu335Pro) | not specified [RCV004920873] | uncertain significance | 10 | 73228165 | 73228165 | Human | | name |
| 597737644 | CV3668590 | single nucleotide variant | NM_173348.2(FAM149B1):c.1438G>A (p.Val480Met) | not specified [RCV004920874] | uncertain significance | 10 | 73234902 | 73234902 | Human | | name |
| 597834109 | CV3735759 | single nucleotide variant | NM_173348.2(FAM149B1):c.1388C>T (p.Pro463Leu) | not provided [RCV005063622]|not specified [RCV005336064] | uncertain significance | 10 | 73234852 | 73234852 | Human | | name |
| 598224985 | CV3965910 | single nucleotide variant | NM_173348.2(FAM149B1):c.1742G>C (p.Gly581Ala) | not specified [RCV005341373] | uncertain significance | 10 | 73241012 | 73241012 | Human | | name |
| 598201215 | CV4007577 | single nucleotide variant | NM_173348.2(FAM149B1):c.1654C>T (p.Arg552Ter) | Joubert syndrome 36 [RCV005398409] | uncertain significance | 10 | 73239363 | 73239363 | Human | 1 | name |
| 408391125 | CV3527896 | deletion | NM_173348.2(FAM149B1):c.592_598del (p.Lys198fs) | not provided [RCV004775167] | uncertain significance | 10 | 73208665 | 73208671 | Human | | name |
| 21404267 | CV799078 | deletion | NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) | Joubert syndrome 36 [RCV000999699]|Joubert syndrome [RCV001175205] | pathogenic|likely pathogenic | 10 | 73192629 | 73192630 | Human | 2 | name |
| 404998160 | CV2850078 | deletion | NM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs) | Joubert syndrome 36 [RCV003493000] | uncertain significance | 10 | 73235279 | 73235283 | Human | 1 | name |
| 408373194 | CV3502214 | deletion | NM_173348.2(FAM149B1):c.1396_1397del (p.Leu466fs) | not provided [RCV004725801] | uncertain significance | 10 | 73234860 | 73234861 | Human | | name |
| 598201221 | CV4007578 | deletion | NM_173348.2(FAM149B1):c.1714_1728del (p.Gly572_Ser576del) | Joubert syndrome 36 [RCV005398410] | benign | 10 | 73240984 | 73240998 | Human | 1 | name |
| 408391577 | CV3528000 | deletion | NM_173348.2(FAM149B1):c.666_669del (p.Glu223_Gly224insTer) | not provided [RCV004775272] | uncertain significance | 10 | 73208742 | 73208745 | Human | | name |