| 156384422 | CV2231081 | single nucleotide variant | NM_003099.5(SNX1):c.46C>T (p.Pro16Ser) | not specified [RCV004094306] | uncertain significance | 15 | 64096059 | 64096059 | Human | | name |
| 329373754 | CV2434576 | single nucleotide variant | NM_003099.5(SNX1):c.92G>A (p.Gly31Glu) | not specified [RCV004254274] | uncertain significance | 15 | 64096105 | 64096105 | Human | | name |
| 329390751 | CV2455435 | single nucleotide variant | NM_003099.5(SNX1):c.79G>A (p.Gly27Arg) | not specified [RCV004276707] | uncertain significance | 15 | 64096092 | 64096092 | Human | | name |
| 329362014 | CV2456646 | single nucleotide variant | NM_003099.5(SNX1):c.40C>G (p.Leu14Val) | not specified [RCV004277831] | uncertain significance | 15 | 64096053 | 64096053 | Human | | name |
| 401736755 | CV2689421 | single nucleotide variant | NM_003099.5(SNX1):c.88G>A (p.Gly30Arg) | not specified [RCV004306231] | uncertain significance | 15 | 64096101 | 64096101 | Human | | name |
| 597745180 | CV3607220 | single nucleotide variant | NM_003099.5(SNX1):c.32C>T (p.Ser11Leu) | not specified [RCV004865620] | uncertain significance | 15 | 64096045 | 64096045 | Human | | name |
| 156064647 | CV2317710 | single nucleotide variant | NM_003099.5(SNX1):c.253C>T (p.Pro85Ser) | not specified [RCV004174975] | uncertain significance | 15 | 64112666 | 64112666 | Human | | name |
| 156189321 | CV2356606 | single nucleotide variant | NM_003099.5(SNX1):c.142A>G (p.Thr48Ala) | not specified [RCV004201972] | uncertain significance | 15 | 64096155 | 64096155 | Human | | name |
| 401772156 | CV2708154 | single nucleotide variant | NM_003099.5(SNX1):c.280G>A (p.Val94Met) | not specified [RCV004311523] | uncertain significance | 15 | 64118125 | 64118125 | Human | | name |
| 405732260 | CV3326367 | single nucleotide variant | NM_003099.5(SNX1):c.277A>G (p.Thr93Ala) | not specified [RCV004464491] | uncertain significance | 15 | 64118122 | 64118122 | Human | | name |
| 407503813 | CV3484778 | single nucleotide variant | NM_003099.5(SNX1):c.268G>A (p.Ala90Thr) | not specified [RCV004670374] | uncertain significance | 15 | 64112681 | 64112681 | Human | | name |
| 597745196 | CV3607224 | single nucleotide variant | NM_003099.5(SNX1):c.212G>T (p.Gly71Val) | not specified [RCV004865623] | uncertain significance | 15 | 64112625 | 64112625 | Human | | name |
| 598171887 | CV3911650 | single nucleotide variant | NM_003099.5(SNX1):c.218A>T (p.Lys73Ile) | not specified [RCV005284885] | uncertain significance | 15 | 64112631 | 64112631 | Human | | name |
| 598171882 | CV3911651 | single nucleotide variant | NM_003099.5(SNX1):c.107C>G (p.Ala36Gly) | not specified [RCV005284886] | uncertain significance | 15 | 64096120 | 64096120 | Human | | name |
| 155990476 | CV2256346 | single nucleotide variant | NM_003099.5(SNX1):c.457G>A (p.Glu153Lys) | not specified [RCV004116802] | uncertain significance | 15 | 64118845 | 64118845 | Human | | name |
| 156314656 | CV2257186 | single nucleotide variant | NM_003099.5(SNX1):c.685T>C (p.Ser229Pro) | not specified [RCV004123136] | uncertain significance | 15 | 64127206 | 64127206 | Human | | name |
| 156003231 | CV2258043 | single nucleotide variant | NM_003099.5(SNX1):c.692C>A (p.Ser231Tyr) | not specified [RCV004129840] | uncertain significance | 15 | 64127213 | 64127213 | Human | | name |
| 156230284 | CV2267951 | single nucleotide variant | NM_003099.5(SNX1):c.811C>A (p.Pro271Thr) | not specified [RCV004136235] | uncertain significance | 15 | 64129919 | 64129919 | Human | | name |
| 156166666 | CV2279669 | single nucleotide variant | NM_003099.5(SNX1):c.617T>A (p.Phe206Tyr) | not specified [RCV004144293] | uncertain significance | 15 | 64126185 | 64126185 | Human | | name |
| 156051359 | CV2304653 | single nucleotide variant | NM_003099.5(SNX1):c.440T>G (p.Val147Gly) | not specified [RCV004166537] | uncertain significance | 15 | 64118828 | 64118828 | Human | | name |
| 156187915 | CV2328478 | single nucleotide variant | NM_003099.5(SNX1):c.853C>T (p.Leu285Phe) | not specified [RCV004175859] | uncertain significance | 15 | 64129961 | 64129961 | Human | | name |
| 156129362 | CV2364636 | single nucleotide variant | NM_003099.5(SNX1):c.388A>G (p.Thr130Ala) | not specified [RCV004219527] | uncertain significance | 15 | 64118233 | 64118233 | Human | | name |
| 405732266 | CV3326368 | single nucleotide variant | NM_003099.5(SNX1):c.337C>G (p.Leu113Val) | not specified [RCV004464492] | uncertain significance | 15 | 64118182 | 64118182 | Human | | name |
| 405732285 | CV3326370 | single nucleotide variant | NM_003099.5(SNX1):c.937C>G (p.Leu313Val) | not specified [RCV004464494] | uncertain significance | 15 | 64130243 | 64130243 | Human | | name |
| 407503810 | CV3484777 | single nucleotide variant | NM_003099.5(SNX1):c.374C>T (p.Ser125Leu) | not specified [RCV004670373] | uncertain significance | 15 | 64118219 | 64118219 | Human | | name |
| 597745175 | CV3607219 | single nucleotide variant | NM_003099.5(SNX1):c.580T>C (p.Tyr194His) | not specified [RCV004865619] | uncertain significance | 15 | 64126148 | 64126148 | Human | | name |
| 597745185 | CV3607222 | single nucleotide variant | NM_003099.5(SNX1):c.472G>A (p.Gly158Ser) | not specified [RCV004865621] | uncertain significance | 15 | 64123508 | 64123508 | Human | | name |
| 597745202 | CV3607225 | single nucleotide variant | NM_003099.5(SNX1):c.721G>A (p.Ala241Thr) | not specified [RCV004865624] | uncertain significance | 15 | 64127242 | 64127242 | Human | | name |
| 598238459 | CV3911648 | single nucleotide variant | NM_003099.5(SNX1):c.516C>G (p.Ser172Arg) | not specified [RCV005275836] | uncertain significance | 15 | 64126084 | 64126084 | Human | | name |
| 155919668 | CV2254909 | single nucleotide variant | NM_003099.5(SNX1):c.1025T>G (p.Leu342Arg) | not specified [RCV004117148] | uncertain significance | 15 | 64131696 | 64131696 | Human | | name |
| 156079139 | CV2300893 | single nucleotide variant | NM_003099.5(SNX1):c.1538C>A (p.Ala513Asp) | not specified [RCV004158092] | uncertain significance | 15 | 64137587 | 64137587 | Human | | name |
| 156083874 | CV2343117 | single nucleotide variant | NM_003099.5(SNX1):c.1256G>A (p.Arg419His) | not specified [RCV004192709] | uncertain significance | 15 | 64134698 | 64134698 | Human | | name |
| 156228666 | CV2352926 | single nucleotide variant | NM_003099.5(SNX1):c.1094G>A (p.Arg365Gln) | not specified [RCV004200971] | uncertain significance | 15 | 64131765 | 64131765 | Human | | name |
| 329368355 | CV2427990 | single nucleotide variant | NM_003099.5(SNX1):c.1292G>A (p.Arg431Gln) | not specified [RCV004254370] | uncertain significance | 15 | 64134734 | 64134734 | Human | | name |
| 329379902 | CV2456550 | single nucleotide variant | NM_003099.5(SNX1):c.1475A>G (p.His492Arg) | not specified [RCV004277478] | uncertain significance | 15 | 64136889 | 64136889 | Human | | name |
| 329374253 | CV2463469 | single nucleotide variant | NM_003099.5(SNX1):c.1477G>A (p.Val493Met) | not specified [RCV004277298] | uncertain significance | 15 | 64136891 | 64136891 | Human | | name |
| 329398050 | CV2464732 | single nucleotide variant | NM_003099.5(SNX1):c.1160A>C (p.Asn387Thr) | not specified [RCV004284699] | uncertain significance | 15 | 64131831 | 64131831 | Human | | name |
| 401890086 | CV2762162 | single nucleotide variant | NM_003099.5(SNX1):c.1082C>T (p.Thr361Met) | not specified [RCV004341976] | uncertain significance | 15 | 64131753 | 64131753 | Human | | name |
| 401856710 | CV2764898 | single nucleotide variant | NM_003099.5(SNX1):c.1220G>A (p.Arg407His) | not specified [RCV004334991] | uncertain significance | 15 | 64131891 | 64131891 | Human | | name |
| 401887597 | CV2773534 | single nucleotide variant | NM_003099.5(SNX1):c.1439G>A (p.Arg480Gln) | not specified [RCV004355946] | uncertain significance | 15 | 64136403 | 64136403 | Human | | name |
| 401887142 | CV2775653 | single nucleotide variant | NM_003099.5(SNX1):c.1291C>T (p.Arg431Trp) | not specified [RCV004350795] | uncertain significance | 15 | 64134733 | 64134733 | Human | | name |
| 405732248 | CV3326365 | single nucleotide variant | NM_003099.5(SNX1):c.1116G>T (p.Glu372Asp) | not specified [RCV004464489] | uncertain significance | 15 | 64131787 | 64131787 | Human | | name |
| 405732253 | CV3326366 | single nucleotide variant | NM_003099.5(SNX1):c.1370A>C (p.Glu457Ala) | not specified [RCV004464490] | uncertain significance | 15 | 64136334 | 64136334 | Human | | name |
| 597741003 | CV3607221 | single nucleotide variant | NM_003099.5(SNX1):c.1438C>T (p.Arg480Trp) | not specified [RCV004864772] | uncertain significance | 15 | 64136402 | 64136402 | Human | | name |
| 597745190 | CV3607223 | single nucleotide variant | NM_003099.5(SNX1):c.1255C>T (p.Arg419Cys) | not specified [RCV004865622] | uncertain significance | 15 | 64134697 | 64134697 | Human | | name |
| 598171892 | CV3911649 | single nucleotide variant | NM_003099.5(SNX1):c.1385A>G (p.Gln462Arg) | not specified [RCV005284884] | uncertain significance | 15 | 64136349 | 64136349 | Human | | name |
| 401854375 | CV2748940 | single nucleotide variant | NM_153816.6(SNX14):c.-18G>C | not specified [RCV003331762] | uncertain significance | 6 | 85593736 | 85593736 | Human | | name |
| 401854377 | CV2748941 | single nucleotide variant | NM_153816.6(SNX14):c.*14G>T | not specified [RCV003331763] | benign|uncertain significance | 6 | 85505953 | 85505953 | Human | | name |
| 150425276 | CV1183888 | single nucleotide variant | NM_153816.6(SNX14):c.*302G>A | not provided [RCV001557793] | likely benign | 6 | 85505665 | 85505665 | Human | | name |
| 150405359 | CV1193836 | single nucleotide variant | NM_153816.6(SNX14):c.*205C>T | not provided [RCV001571592] | likely benign | 6 | 85505762 | 85505762 | Human | | name |
| 151772801 | CV1367245 | single nucleotide variant | NM_013322.3(SNX10):c.25-9C>A | not provided [RCV001988404] | likely benign|uncertain significance | 7 | 26360966 | 26360966 | Human | | name |
| 151788814 | CV1479353 | single nucleotide variant | NM_013322.3(SNX10):c.24+1G>A | not provided [RCV002046900] | likely pathogenic | 7 | 26346467 | 26346467 | Human | | name |
| 152108298 | CV1547963 | single nucleotide variant | NM_013322.3(SNX10):c.25-4A>G | not provided [RCV002174007] | likely benign | 7 | 26360971 | 26360971 | Human | | name |
| 405242349 | CV2967264 | single nucleotide variant | NM_013322.3(SNX10):c.24+8A>G | not provided [RCV003684331] | likely benign | 7 | 26346474 | 26346474 | Human | | name |
| 15144768 | CV744332 | single nucleotide variant | NM_013322.3(SNX10):c.25-5T>C | SNX10-related disorder [RCV003922949]|not provided [RCV000900056] | benign | 7 | 26360970 | 26360970 | Human | 1 | name , trait , alternate_id |
| 126728973 | CV1016796 | single nucleotide variant | NM_153816.6(SNX14):c.140+9G>A | Autosomal recessive spinocerebellar ataxia 20 [RCV001333019] | uncertain significance | 6 | 85593570 | 85593570 | Human | 1 | name |
| 150425225 | CV1183890 | single nucleotide variant | NM_153816.6(SNX14):c.140+4A>G | not provided [RCV001557728] | likely benign|conflicting interpretations of pathogenicity | 6 | 85593575 | 85593575 | Human | | name |
| 150510668 | CV1210532 | single nucleotide variant | NM_013322.3(SNX10):c.24+68T>C | not provided [RCV001597711] | benign | 7 | 26346534 | 26346534 | Human | | name |
| 150435623 | CV1233909 | single nucleotide variant | NM_013322.3(SNX10):c.24+36T>A | Autosomal recessive osteopetrosis 8 [RCV001810179]|not provided [RCV001644036] | benign | 7 | 26346502 | 26346502 | Human | 1 | name |
| 150530021 | CV1311396 | single nucleotide variant | NM_153816.6(SNX14):c.867+1G>T | Cerebellar ataxia [RCV001775502] | likely pathogenic | 6 | 85548300 | 85548300 | Human | 2 | name |
| 151798403 | CV1347261 | single nucleotide variant | NM_153816.6(SNX14):c.913-1G>T | not provided [RCV002027862] | likely pathogenic | 6 | 85547398 | 85547398 | Human | | name |
| 151802263 | CV1378896 | single nucleotide variant | NM_013322.3(SNX10):c.524+1G>T | not provided [RCV001877477] | uncertain significance | 7 | 26372034 | 26372034 | Human | | name |
| 151715877 | CV1441752 | single nucleotide variant | NM_013322.3(SNX10):c.111+5G>A | not provided [RCV002002917] | uncertain significance | 7 | 26361066 | 26361066 | Human | | name |
| 151880950 | CV1475571 | single nucleotide variant | NM_013322.3(SNX10):c.111+5G>C | not provided [RCV001961663] | uncertain significance | 7 | 26361066 | 26361066 | Human | | name |
| 152043837 | CV1530719 | duplication | NM_013322.3(SNX10):c.312-8dup | SNX10-related disorder [RCV003923438]|not provided [RCV002071364] | benign | 7 | 26371803 | 26371804 | Human | 1 | name , trait , alternate_id |
| 152031591 | CV1546766 | single nucleotide variant | NM_013322.3(SNX10):c.24+18C>G | not provided [RCV002124590] | likely benign | 7 | 26346484 | 26346484 | Human | | name |
| 156186641 | CV1867245 | single nucleotide variant | NM_013322.3(SNX10):c.213-2A>G | not provided [RCV002508891] | likely pathogenic | 7 | 26365045 | 26365045 | Human | | name |
| 156395191 | CV1984548 | single nucleotide variant | NM_153816.6(SNX14):c.994-4C>G | not provided [RCV002635415] | likely benign | 6 | 85547230 | 85547230 | Human | | name |
| 155971778 | CV2024865 | single nucleotide variant | NM_013322.3(SNX10):c.213-5C>G | not provided [RCV002754926] | likely benign | 7 | 26365042 | 26365042 | Human | | name |
| 156257704 | CV2041331 | deletion | NM_013322.3(SNX10):c.312-8del | not provided [RCV002806222] | benign | 7 | 26371804 | 26371804 | Human | | name |
| 156371286 | CV2048874 | single nucleotide variant | NM_013322.3(SNX10):c.525-4C>G | not provided [RCV002814298] | likely benign | 7 | 26372487 | 26372487 | Human | | name |
| 156372405 | CV2059093 | single nucleotide variant | NM_153816.6(SNX14):c.635-6C>G | not provided [RCV002814403] | uncertain significance | 6 | 85549885 | 85549885 | Human | | name |
| 401910902 | CV2815626 | single nucleotide variant | NM_014748.4(SNX17):c.432+8G>A | not provided [RCV003425548] | likely benign | 2 | 27373979 | 27373979 | Human | | name |
| 405166832 | CV2954727 | single nucleotide variant | NM_013322.3(SNX10):c.111+1G>T | not provided [RCV003675101] | likely pathogenic | 7 | 26361062 | 26361062 | Human | | name |
| 405233458 | CV2981782 | single nucleotide variant | NM_013322.3(SNX10):c.312-7A>T | not provided [RCV003711898] | likely benign | 7 | 26371814 | 26371814 | Human | | name |
| 402496427 | CV3005868 | single nucleotide variant | NM_153816.6(SNX14):c.994-6A>G | not provided [RCV003688057] | likely benign | 6 | 85547232 | 85547232 | Human | | name |
| 405251207 | CV3181145 | single nucleotide variant | NM_013322.3(SNX10):c.525-4C>T | not provided [RCV003870146] | likely benign | 7 | 26372487 | 26372487 | Human | | name |
| 405291549 | CV3205783 | single nucleotide variant | NM_153816.6(SNX14):c.549+5A>G | SNX14-related disorder [RCV003963915] | likely benign | 6 | 85565327 | 85565327 | Human | | name , trait , alternate_id |
| 596944751 | CV3543278 | single nucleotide variant | NM_013322.3(SNX10):c.112-1G>C | Osteopetrosis [RCV004799150] | likely pathogenic | 7 | 26364534 | 26364534 | Human | 2 | name |
| 596943567 | CV3544285 | single nucleotide variant | NM_153816.6(SNX14):c.262-1G>A | Autosomal recessive spinocerebellar ataxia 20 [RCV004800765] | likely pathogenic | 6 | 85572375 | 85572375 | Human | 1 | name |
| 15189721 | CV730439 | single nucleotide variant | NM_153816.6(SNX14):c.418-6A>C | not provided [RCV000887900] | likely benign | 6 | 85567583 | 85567583 | Human | | name |
| 15105726 | CV730488 | single nucleotide variant | NM_013322.3(SNX10):c.312-8T>A | not provided [RCV000893136] | benign | 7 | 26371813 | 26371813 | Human | | name |
| 15174555 | CV744159 | deletion | NM_153816.6(SNX14):c.868-8del | SNX14-related disorder [RCV003923074]|not provided [RCV000905992] | benign|likely benign | 6 | 85547558 | 85547558 | Human | 1 | name , trait , alternate_id |
| 15190944 | CV744337 | single nucleotide variant | NM_013322.3(SNX10):c.212+4A>T | Autosomal recessive osteopetrosis 8 [RCV002479046]|SNX10-related disorder [RCV003932969]|not provided [RCV000910101] | benign|likely benign | 7 | 26364639 | 26364639 | Human | 1 | name , trait , alternate_id |
| 15150941 | CV759516 | single nucleotide variant | NM_153816.6(SNX14):c.994-5T>A | SNX14-related disorder [RCV003960423]|not provided [RCV000923571] | benign|likely benign|conflicting interpretations of pathogenicity | 6 | 85547231 | 85547231 | Human | 1 | name , trait , alternate_id |
| 15111069 | CV775251 | single nucleotide variant | NM_153816.6(SNX14):c.867+6A>C | not provided [RCV000938679] | benign|likely benign|conflicting interpretations of pathogenicity | 6 | 85548295 | 85548295 | Human | | name |
| 15185230 | CV777842 | single nucleotide variant | NM_013322.3(SNX10):c.312-6A>T | not provided [RCV000952919] | likely benign | 7 | 26371815 | 26371815 | Human | | name |
| 126909064 | CV1053084 | single nucleotide variant | NM_153816.6(SNX14):c.1476-8A>G | Neurodevelopmental disorder [RCV001374928] | uncertain significance | 6 | 85536932 | 85536932 | Human | 1 | name |
| 150413709 | CV1176827 | single nucleotide variant | NM_153816.6(SNX14):c.550-12G>A | not provided [RCV001547882] | benign|likely benign | 6 | 85558072 | 85558072 | Human | | name |
| 150415616 | CV1190564 | single nucleotide variant | NM_153816.6(SNX14):c.140+57G>A | not provided [RCV001568065] | likely benign | 6 | 85593522 | 85593522 | Human | | name |
| 150465160 | CV1201030 | microsatellite | NM_153816.6(SNX14):c.*252GA[1] | not provided [RCV001587510] | likely benign | 6 | 85505712 | 85505713 | Human | | name |
| 150455256 | CV1246889 | single nucleotide variant | NM_153816.6(SNX14):c.141-59G>A | not provided [RCV001668657] | benign | 6 | 85574437 | 85574437 | Human | | name |
| 150491275 | CV1267750 | single nucleotide variant | NM_013322.3(SNX10):c.112-84G>A | not provided [RCV001687775] | benign | 7 | 26364451 | 26364451 | Human | | name |
| 152142468 | CV1538237 | single nucleotide variant | NM_013322.3(SNX10):c.212+15G>A | not provided [RCV002219556] | likely benign | 7 | 26364650 | 26364650 | Human | | name |
| 152081241 | CV1554635 | deletion | NM_013322.3(SNX10):c.525-16del | not provided [RCV002193045] | benign | 7 | 26372471 | 26372471 | Human | | name |
| 152124552 | CV1587438 | single nucleotide variant | NM_013322.3(SNX10):c.212+19A>G | not provided [RCV002136150] | likely benign | 7 | 26364654 | 26364654 | Human | | name |
| 152063846 | CV1644862 | single nucleotide variant | NM_013322.3(SNX10):c.112-15A>C | not provided [RCV002147128] | likely benign | 7 | 26364520 | 26364520 | Human | | name |
| 152111290 | CV1651318 | single nucleotide variant | NM_013322.3(SNX10):c.111+11A>C | not provided [RCV002134518] | likely benign | 7 | 26361072 | 26361072 | Human | | name |
| 152047630 | CV1654024 | single nucleotide variant | NM_013322.3(SNX10):c.311+16C>G | not provided [RCV002088739] | likely benign | 7 | 26365161 | 26365161 | Human | | name |
| 153348823 | CV1692868 | deletion | NM_153816.6(SNX14):c.2149-4del | not provided [RCV002274724] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 85517879 | 85517879 | Human | | name |
| 10044326 | CV188146 | single nucleotide variant | NM_153816.6(SNX14):c.1894+1G>T | Autosomal recessive spinocerebellar ataxia 20 [RCV000170505]|SNX14-related disorder [RCV004752768] | pathogenic|likely pathogenic | 6 | 85530191 | 85530191 | Human | 1 | name , trait , alternate_id |
| 156200892 | CV1916765 | deletion | NM_153816.6(SNX14):c.2269-8del | not provided [RCV002595698] | benign | 6 | 85514637 | 85514637 | Human | | name |
| 155947737 | CV1921721 | duplication | NM_153816.6(SNX14):c.1609-5dup | not provided [RCV002616043] | benign | 6 | 85533804 | 85533805 | Human | | name |
| 156147463 | CV1932288 | single nucleotide variant | NM_153816.6(SNX14):c.2558-4T>G | not provided [RCV002623885] | likely benign | 6 | 85513899 | 85513899 | Human | | name |
| 156344661 | CV1958107 | single nucleotide variant | NM_153816.6(SNX14):c.550-15C>T | not provided [RCV002580702] | likely benign | 6 | 85558075 | 85558075 | Human | | name |
| 156396372 | CV1959014 | deletion | NM_153816.6(SNX14):c.338+12del | not provided [RCV002584402] | likely benign | 6 | 85572286 | 85572286 | Human | | name |
| 156280250 | CV1964354 | single nucleotide variant | NM_153816.6(SNX14):c.792-20A>G | not provided [RCV002577456] | benign | 6 | 85548396 | 85548396 | Human | | name |
| 156415986 | CV1983857 | single nucleotide variant | NM_013322.3(SNX10):c.524+11G>A | not provided [RCV002609939] | likely benign | 7 | 26372044 | 26372044 | Human | | name |
| 156173788 | CV2000172 | single nucleotide variant | NM_153816.6(SNX14):c.2803-3T>G | not provided [RCV002642803] | uncertain significance | 6 | 85506008 | 85506008 | Human | | name |
| 156395313 | CV2012185 | single nucleotide variant | NM_013322.3(SNX10):c.112-15A>G | not provided [RCV002725491] | likely benign | 7 | 26364520 | 26364520 | Human | | name |
| 155953947 | CV2014181 | single nucleotide variant | NM_153816.6(SNX14):c.994-13C>T | not provided [RCV002686168] | likely benign | 6 | 85547239 | 85547239 | Human | | name |
| 156178451 | CV2020374 | single nucleotide variant | NM_153816.6(SNX14):c.634+19A>G | not provided [RCV002710703] | likely benign | 6 | 85557957 | 85557957 | Human | | name |
| 155961188 | CV2040477 | single nucleotide variant | NM_153816.6(SNX14):c.140+14G>T | not provided [RCV002776275] | likely benign | 6 | 85593565 | 85593565 | Human | | name |
| 156236134 | CV2072539 | single nucleotide variant | NM_153816.6(SNX14):c.1390-2A>G | not provided [RCV002830237] | likely pathogenic | 6 | 85542045 | 85542045 | Human | | name |
| 156109581 | CV2072630 | single nucleotide variant | NM_013322.3(SNX10):c.213-20T>A | not provided [RCV002870840] | uncertain significance | 7 | 26365027 | 26365027 | Human | | name |
| 156089125 | CV2092271 | single nucleotide variant | NM_153816.6(SNX14):c.1449-4G>T | SNX14-related disorder [RCV003926476]|not provided [RCV002912974] | benign|likely benign | 6 | 85538868 | 85538868 | Human | 1 | name , trait , alternate_id |
| 156369426 | CV2109606 | single nucleotide variant | NM_013322.3(SNX10):c.525-20C>T | not provided [RCV002942208] | likely benign | 7 | 26372471 | 26372471 | Human | | name |
| 156090798 | CV2172840 | single nucleotide variant | NM_153816.6(SNX14):c.1449-3C>G | not provided [RCV003054352] | uncertain significance | 6 | 85538867 | 85538867 | Human | | name |
| 401724027 | CV2737942 | single nucleotide variant | NM_153816.6(SNX14):c.2746-2A>G | Autosomal recessive spinocerebellar ataxia 20 [RCV003315114]|not provided [RCV004823144] | likely pathogenic | 6 | 85507291 | 85507291 | Human | 1 | name |
| 401724036 | CV2737946 | single nucleotide variant | NM_153816.6(SNX14):c.2148+1G>T | Autosomal recessive spinocerebellar ataxia 20 [RCV003315118] | pathogenic | 6 | 85518007 | 85518007 | Human | 1 | name |
| 405176412 | CV2860879 | single nucleotide variant | NM_013322.3(SNX10):c.112-10C>T | not provided [RCV003542798] | likely benign | 7 | 26364525 | 26364525 | Human | | name |
| 402486801 | CV2865417 | single nucleotide variant | NM_013322.3(SNX10):c.525-14C>T | not provided [RCV003544551] | likely benign | 7 | 26372477 | 26372477 | Human | | name |
| 405223458 | CV2919101 | single nucleotide variant | NM_013322.3(SNX10):c.525-20C>A | not provided [RCV003568780] | likely benign | 7 | 26372471 | 26372471 | Human | | name |
| 405118259 | CV2949751 | single nucleotide variant | NM_013322.3(SNX10):c.111+11A>G | not provided [RCV003667159] | likely benign | 7 | 26361072 | 26361072 | Human | | name |
| 405158467 | CV2961031 | single nucleotide variant | NM_153816.6(SNX14):c.635-11A>C | not provided [RCV003670503] | likely benign | 6 | 85549890 | 85549890 | Human | | name |
| 405225355 | CV3042154 | single nucleotide variant | NM_153816.6(SNX14):c.868-20T>C | not provided [RCV003710602] | likely benign | 6 | 85547570 | 85547570 | Human | | name |
| 405135787 | CV3115693 | single nucleotide variant | NM_153816.6(SNX14):c.338+15T>C | not provided [RCV003816350] | likely benign | 6 | 85572283 | 85572283 | Human | | name |
| 405192010 | CV3118182 | single nucleotide variant | NM_153816.6(SNX14):c.141-14C>T | not provided [RCV003821092] | likely benign | 6 | 85574392 | 85574392 | Human | | name |
| 405048233 | CV3141710 | single nucleotide variant | NM_013322.3(SNX10):c.311+13A>C | not provided [RCV003831811] | likely benign | 7 | 26365158 | 26365158 | Human | | name |
| 405200964 | CV3143500 | single nucleotide variant | NM_153816.6(SNX14):c.912+14A>G | not provided [RCV003844486] | likely benign | 6 | 85547492 | 85547492 | Human | | name |
| 405129018 | CV3163300 | single nucleotide variant | NM_013322.3(SNX10):c.213-19G>T | not provided [RCV003854481] | likely benign | 7 | 26365028 | 26365028 | Human | | name |
| 404992743 | CV3176375 | single nucleotide variant | NM_153816.6(SNX14):c.461+14A>G | not provided [RCV003881807] | benign | 6 | 85567520 | 85567520 | Human | | name |
| 407507326 | CV3496268 | single nucleotide variant | NM_153816.6(SNX14):c.2148+1G>A | not provided [RCV004698109] | pathogenic | 6 | 85518007 | 85518007 | Human | | name |
| 12849144 | CV364068 | single nucleotide variant | NM_153816.6(SNX14):c.1608+1G>C | not provided [RCV000424791] | likely pathogenic | 6 | 85536791 | 85536791 | Human | | name |
| 597852229 | CV3758549 | single nucleotide variant | NM_013322.3(SNX10):c.213-10T>G | not provided [RCV005088108] | likely benign | 7 | 26365037 | 26365037 | Human | | name |
| 597931151 | CV3827063 | single nucleotide variant | NM_013322.3(SNX10):c.311+15A>G | not provided [RCV005157076] | likely benign | 7 | 26365160 | 26365160 | Human | | name |
| 597910994 | CV3854262 | single nucleotide variant | NM_153816.6(SNX14):c.1476-1G>A | not provided [RCV005203532] | likely pathogenic | 6 | 85536925 | 85536925 | Human | | name |
| 597922048 | CV3861864 | single nucleotide variant | NM_153816.6(SNX14):c.1390-1G>C | not provided [RCV005205240] | likely pathogenic | 6 | 85542044 | 85542044 | Human | | name |
| 616937485 | CV4013477 | single nucleotide variant | NM_153816.6(SNX14):c.1811-8A>G | Autosomal recessive spinocerebellar ataxia 20 [RCV005411040] | pathogenic | 6 | 85530283 | 85530283 | Human | 1 | name |
| 12894115 | CV406940 | single nucleotide variant | NM_153816.6(SNX14):c.2557+1G>A | Autosomal recessive spinocerebellar ataxia 20 [RCV001824804]|not provided [RCV000481561] | likely pathogenic|not provided | 6 | 85514069 | 85514069 | Human | 1 | name |
| 15155885 | CV744252 | single nucleotide variant | NM_153816.6(SNX14):c.1995+5A>T | not provided [RCV000902225] | likely benign | 6 | 85528257 | 85528257 | Human | | name |
| 15178047 | CV779324 | single nucleotide variant | NM_015132.5(SNX13):c.440+10C>T | not provided [RCV000973570] | benign | 7 | 17890353 | 17890353 | Human | | name |
| 21071525 | CV790664 | single nucleotide variant | NM_153816.6(SNX14):c.1608+1G>T | Autosomal recessive spinocerebellar ataxia 20 [RCV000987749] | pathogenic | 6 | 85536791 | 85536791 | Human | 1 | name |
| 150408791 | CV1176825 | single nucleotide variant | NM_153816.6(SNX14):c.2745+53G>T | not provided [RCV001546021] | likely benign | 6 | 85507915 | 85507915 | Human | | name |
| 150419682 | CV1180235 | single nucleotide variant | NM_153816.6(SNX14):c.1894+43G>A | not provided [RCV001551175] | likely benign | 6 | 85530149 | 85530149 | Human | | name |
| 150422912 | CV1180236 | single nucleotide variant | NM_153816.6(SNX14):c.261+158C>T | not provided [RCV001553295] | likely benign | 6 | 85574100 | 85574100 | Human | | name |
| 150428172 | CV1187140 | single nucleotide variant | NM_153816.6(SNX14):c.1108+47A>C | not provided [RCV001561908] | likely benign | 6 | 85547065 | 85547065 | Human | | name |
| 150427807 | CV1187141 | single nucleotide variant | NM_153816.6(SNX14):c.262-168T>A | not provided [RCV001561419] | likely benign | 6 | 85572542 | 85572542 | Human | | name |
| 150405585 | CV1190562 | single nucleotide variant | NM_153816.6(SNX14):c.461+132A>G | not provided [RCV001564349] | likely benign | 6 | 85567402 | 85567402 | Human | | name |
| 150414277 | CV1190563 | single nucleotide variant | NM_153816.6(SNX14):c.417+273C>T | not provided [RCV001567465] | likely benign | 6 | 85571864 | 85571864 | Human | | name |
| 150406725 | CV1193837 | deletion | NM_153816.6(SNX14):c.1390-91del | not provided [RCV001572108] | likely benign | 6 | 85542134 | 85542134 | Human | | name |
| 150417547 | CV1197590 | single nucleotide variant | NM_153816.6(SNX14):c.2745+53G>A | not provided [RCV001576344] | likely benign | 6 | 85507915 | 85507915 | Human | | name |
| 150417926 | CV1197592 | single nucleotide variant | NM_153816.6(SNX14):c.635-188G>T | not provided [RCV001576519] | likely benign | 6 | 85550067 | 85550067 | Human | | name |
| 150480252 | CV1207980 | single nucleotide variant | NM_153816.6(SNX14):c.2268+31G>A | not provided [RCV001590257] | likely benign | 6 | 85517725 | 85517725 | Human | | name |
| 150448561 | CV1214994 | single nucleotide variant | NM_013322.3(SNX10):c.-23-331T>C | not provided [RCV001611583] | benign | 7 | 26346089 | 26346089 | Human | | name |
| 150444405 | CV1216625 | single nucleotide variant | NM_153816.6(SNX14):c.2653+47G>A | not provided [RCV001610924] | benign | 6 | 85513753 | 85513753 | Human | | name |
| 150433324 | CV1216872 | single nucleotide variant | NM_153816.6(SNX14):c.2746-83A>G | not provided [RCV001608774] | benign | 6 | 85507372 | 85507372 | Human | | name |
| 150472239 | CV1217148 | single nucleotide variant | NM_153816.6(SNX14):c.791+128T>A | not provided [RCV001615443] | benign | 6 | 85549595 | 85549595 | Human | | name |
| 150515363 | CV1217467 | single nucleotide variant | NM_153816.6(SNX14):c.1475+96A>G | not provided [RCV001608373] | benign | 6 | 85538742 | 85538742 | Human | | name |
| 150499363 | CV1224577 | single nucleotide variant | NM_153816.6(SNX14):c.2746-72T>C | not provided [RCV001620408] | benign | 6 | 85507361 | 85507361 | Human | | name |
| 150508020 | CV1227032 | duplication | NM_153816.6(SNX14):c.261+127dup | not provided [RCV001636105] | benign | 6 | 85574119 | 85574120 | Human | | name |
| 150508571 | CV1229677 | single nucleotide variant | NM_013322.3(SNX10):c.-23-333C>T | not provided [RCV001636255] | benign | 7 | 26346087 | 26346087 | Human | | name |
| 150450350 | CV1232670 | deletion | NM_153816.6(SNX14):c.461+182del | not provided [RCV001647745] | benign | 6 | 85567352 | 85567352 | Human | | name |
| 150446175 | CV1233301 | single nucleotide variant | NM_153816.6(SNX14):c.140+206C>T | not provided [RCV001645975] | benign | 6 | 85593373 | 85593373 | Human | | name |
| 150491241 | CV1239248 | single nucleotide variant | NM_153816.6(SNX14):c.1895-22C>A | not provided [RCV001654816] | benign | 6 | 85528384 | 85528384 | Human | | name |
| 150472503 | CV1252255 | single nucleotide variant | NM_153816.6(SNX14):c.140+153G>C | not provided [RCV001671456] | benign | 6 | 85593426 | 85593426 | Human | | name |
| 150507342 | CV1256909 | single nucleotide variant | NM_153816.6(SNX14):c.791+236T>C | not provided [RCV001678412] | benign | 6 | 85549487 | 85549487 | Human | | name |
| 150507668 | CV1257195 | single nucleotide variant | NM_013322.3(SNX10):c.112-354A>G | not provided [RCV001678494] | benign | 7 | 26364181 | 26364181 | Human | | name |
| 150480677 | CV1258771 | single nucleotide variant | NM_153816.6(SNX14):c.868-267G>T | not provided [RCV001685901] | benign | 6 | 85547817 | 85547817 | Human | | name |
| 150445737 | CV1261248 | single nucleotide variant | NM_153816.6(SNX14):c.867+145T>G | not provided [RCV001679922] | benign | 6 | 85548156 | 85548156 | Human | | name |
| 150486871 | CV1262646 | duplication | NM_153816.6(SNX14):c.261+140dup | not provided [RCV001687043] | benign | 6 | 85574110 | 85574111 | Human | | name |
| 150467067 | CV1268879 | single nucleotide variant | NM_153816.6(SNX14):c.1476-67G>T | not provided [RCV001694576] | benign | 6 | 85536991 | 85536991 | Human | | name |
| 150463579 | CV1276245 | single nucleotide variant | NM_013322.3(SNX10):c.-23-214T>G | not provided [RCV001710190] | benign | 7 | 26346206 | 26346206 | Human | | name |
| 150477569 | CV1279473 | single nucleotide variant | NM_153816.6(SNX14):c.1811-15G>A | not provided [RCV001714150] | benign | 6 | 85530290 | 85530290 | Human | | name |
| 150482578 | CV1280014 | duplication | NM_153816.6(SNX14):c.1476-82dup | not provided [RCV001715045] | benign | 6 | 85536998 | 85536999 | Human | | name |
| 152040176 | CV1669686 | single nucleotide variant | NM_153816.6(SNX14):c.1811-31G>A | not provided [RCV002224587] | uncertain significance | 6 | 85530306 | 85530306 | Human | | name |
| 156406189 | CV1963512 | single nucleotide variant | NM_153816.6(SNX14):c.2269-12C>A | not provided [RCV002585820] | likely benign | 6 | 85514641 | 85514641 | Human | | name |
| 156406410 | CV1963610 | single nucleotide variant | NM_153816.6(SNX14):c.1265-15G>T | not provided [RCV002585900] | benign | 6 | 85543321 | 85543321 | Human | | name |
| 156009030 | CV1989586 | single nucleotide variant | NM_153816.6(SNX14):c.2802+18A>C | not provided [RCV002636125] | likely benign | 6 | 85507215 | 85507215 | Human | | name |
| 156357096 | CV2020116 | single nucleotide variant | NM_153816.6(SNX14):c.1810+14T>G | not provided [RCV002720607] | uncertain significance | 6 | 85533585 | 85533585 | Human | | name |
| 156066116 | CV2022347 | single nucleotide variant | NM_153816.6(SNX14):c.1109-17A>G | not provided [RCV002760172] | likely benign | 6 | 85543777 | 85543777 | Human | | name |
| 155975121 | CV2031892 | single nucleotide variant | NM_153816.6(SNX14):c.1895-11A>G | not provided [RCV002755066] | likely benign | 6 | 85528373 | 85528373 | Human | | name |
| 156144812 | CV2037256 | single nucleotide variant | NM_153816.6(SNX14):c.2557+16T>A | not provided [RCV002786649] | likely benign | 6 | 85514054 | 85514054 | Human | | name |
| 156134940 | CV2044294 | duplication | NM_153816.6(SNX14):c.1996-12dup | Autosomal recessive spinocerebellar ataxia 20 [RCV003989784]|not provided [RCV002786311] | benign|likely benign | 6 | 85526248 | 85526249 | Human | 1 | name |
| 156134976 | CV2044295 | single nucleotide variant | NM_153816.6(SNX14):c.1475+14A>G | not provided [RCV002786312] | likely benign | 6 | 85538824 | 85538824 | Human | | name |
| 156219660 | CV2047836 | single nucleotide variant | NM_153816.6(SNX14):c.2745+20G>A | not provided [RCV002790580] | benign | 6 | 85507948 | 85507948 | Human | | name |
| 155905893 | CV2048140 | single nucleotide variant | NM_153816.6(SNX14):c.2745+19C>G | not provided [RCV002771262] | likely benign | 6 | 85507949 | 85507949 | Human | | name |
| 156185147 | CV2086513 | single nucleotide variant | NM_153816.6(SNX14):c.1475+14A>C | not provided [RCV002851959] | likely benign | 6 | 85538824 | 85538824 | Human | | name |
| 156273911 | CV2187568 | single nucleotide variant | NM_153816.6(SNX14):c.1608+12G>A | not provided [RCV003044548] | likely benign | 6 | 85536780 | 85536780 | Human | | name |
| 401724592 | CV2472759 | single nucleotide variant | NM_153816.6(SNX14):c.462-589A>G | Autosomal recessive spinocerebellar ataxia 20 [RCV003315269] | likely pathogenic | 6 | 85566008 | 85566008 | Human | 1 | name |
| 405224638 | CV3142222 | single nucleotide variant | NM_153816.6(SNX14):c.1996-20G>A | not provided [RCV003847761] | likely benign | 6 | 85526257 | 85526257 | Human | | name |
| 405201451 | CV3143499 | single nucleotide variant | NM_153816.6(SNX14):c.1448+11T>C | not provided [RCV003844485] | likely benign | 6 | 85541974 | 85541974 | Human | | name |
| 405197523 | CV3168277 | single nucleotide variant | NM_153816.6(SNX14):c.1476-19A>G | not provided [RCV003860409] | likely benign | 6 | 85536943 | 85536943 | Human | | name |
| 405293544 | CV3214273 | single nucleotide variant | NM_013322.3(SNX10):c.25-3869G>A | SNX10-related disorder [RCV003931974] | likely benign | 7 | 26357106 | 26357106 | Human | | name , trait , alternate_id |
| 597955597 | CV3754440 | single nucleotide variant | NM_153816.6(SNX14):c.2802+16T>C | not provided [RCV005080290] | likely benign | 6 | 85507217 | 85507217 | Human | | name |
| 597898646 | CV3806980 | single nucleotide variant | NM_153816.6(SNX14):c.1448+16T>C | not provided [RCV005152367] | likely benign | 6 | 85541969 | 85541969 | Human | | name |
| 598224451 | CV3892000 | single nucleotide variant | NM_153816.6(SNX14):c.2269-13A>G | Autosomal recessive spinocerebellar ataxia 20 [RCV005253339] | uncertain significance | 6 | 85514642 | 85514642 | Human | 1 | name |
| 150336019 | CV1171630 | single nucleotide variant | NM_153816.6(SNX14):c.1109-119G>A | not provided [RCV001540804] | likely benign | 6 | 85543879 | 85543879 | Human | | name |
| 150408147 | CV1176826 | single nucleotide variant | NM_153816.6(SNX14):c.1475+171A>G | not provided [RCV001545798] | likely benign | 6 | 85538667 | 85538667 | Human | | name |
| 150423484 | CV1183889 | single nucleotide variant | NM_153816.6(SNX14):c.2269-167C>T | not provided [RCV001555383] | likely benign | 6 | 85514796 | 85514796 | Human | | name |
| 150427054 | CV1187138 | single nucleotide variant | NM_153816.6(SNX14):c.1810+254A>G | not provided [RCV001560408] | likely benign | 6 | 85533345 | 85533345 | Human | | name |
| 150413003 | CV1190561 | single nucleotide variant | NM_153816.6(SNX14):c.1449-264C>A | not provided [RCV001567076] | likely benign | 6 | 85539128 | 85539128 | Human | | name |
| 150412194 | CV1197591 | deletion | NM_153816.6(SNX14):c.2654-262del | not provided [RCV001574287] | likely benign | 6 | 85508321 | 85508321 | Human | | name |
| 150466763 | CV1206201 | single nucleotide variant | NM_153816.6(SNX14):c.1389+159G>A | not provided [RCV001587776] | likely benign | 6 | 85543023 | 85543023 | Human | | name |
| 150504312 | CV1212658 | single nucleotide variant | NM_153816.6(SNX14):c.2653+202A>G | not provided [RCV001595533] | benign | 6 | 85513598 | 85513598 | Human | | name |
| 150513859 | CV1227936 | single nucleotide variant | NM_153816.6(SNX14):c.2653+205C>T | not provided [RCV001638214] | benign | 6 | 85513595 | 85513595 | Human | | name |
| 150513033 | CV1228876 | single nucleotide variant | NM_153816.6(SNX14):c.1811-154C>T | not provided [RCV001637718] | benign | 6 | 85530429 | 85530429 | Human | | name |
| 150488241 | CV1237449 | duplication | NM_153816.6(SNX14):c.2654-281dup | not provided [RCV001654298] | benign | 6 | 85508320 | 85508321 | Human | | name |
| 150469826 | CV1243221 | single nucleotide variant | NM_153816.6(SNX14):c.2108-113T>C | not provided [RCV001650742] | benign | 6 | 85518161 | 85518161 | Human | | name |
| 150509132 | CV1245287 | single nucleotide variant | NM_153816.6(SNX14):c.1811-229C>G | not provided [RCV001659255] | benign | 6 | 85530504 | 85530504 | Human | | name |
| 150475231 | CV1251687 | single nucleotide variant | NM_153816.6(SNX14):c.1995+183T>C | not provided [RCV001671885] | benign | 6 | 85528079 | 85528079 | Human | | name |
| 150480103 | CV1258369 | single nucleotide variant | NM_153816.6(SNX14):c.1996-233G>T | not provided [RCV001685788] | benign | 6 | 85526470 | 85526470 | Human | | name |
| 150473533 | CV1262918 | single nucleotide variant | NM_153816.6(SNX14):c.2745+238C>A | not provided [RCV001684734] | benign | 6 | 85507730 | 85507730 | Human | | name |
| 150440493 | CV1265117 | single nucleotide variant | NM_153816.6(SNX14):c.1109-123A>G | not provided [RCV001679110] | benign | 6 | 85543883 | 85543883 | Human | | name |
| 150439861 | CV1266835 | single nucleotide variant | NM_153816.6(SNX14):c.1995+181C>T | not provided [RCV001690270] | benign | 6 | 85528081 | 85528081 | Human | | name |
| 150465633 | CV1268642 | single nucleotide variant | NM_153816.6(SNX14):c.2803-174G>A | not provided [RCV001694338] | benign | 6 | 85506179 | 85506179 | Human | | name |
| 150467468 | CV1269235 | single nucleotide variant | NM_153816.6(SNX14):c.2393-101A>C | not provided [RCV001694643] | benign | 6 | 85514335 | 85514335 | Human | | name |
| 150475383 | CV1271185 | duplication | NM_153816.6(SNX14):c.1108+128dup | not provided [RCV001696008] | benign | 6 | 85546965 | 85546966 | Human | | name |
| 8650691 | CV127266 | single nucleotide variant | NM_022133.3(SNX16):c.376-2474C>T | Lung cancer [RCV000107753] | uncertain significance | 8 | 81831990 | 81831990 | Human | | name |
| 150476020 | CV1279175 | single nucleotide variant | NM_153816.6(SNX14):c.1389+226A>G | not provided [RCV001713924] | benign | 6 | 85542956 | 85542956 | Human | | name |
| 8653160 | CV129735 | single nucleotide variant | NM_013306.4(SNX15):c.664+1249T>A | Lung cancer [RCV000110222] | uncertain significance | 11 | 65036912 | 65036912 | Human | | name |
| 151348014 | CV1325241 | duplication | NM_153816.6(SNX14):c.1109-188dup | not provided [RCV001813883] | likely benign | 6 | 85543947 | 85543948 | Human | | name |
| 404978595 | CV3127443 | microsatellite | NM_013322.3(SNX10):c.525-16CT[2] | not provided [RCV003825667] | likely benign | 7 | 26372475 | 26372476 | Human | | name |
| 150460633 | CV1253135 | microsatellite | NM_153816.6(SNX14):c.261+190TAT[2] | not provided [RCV001669464] | benign | 6 | 85574060 | 85574062 | Human | | name |
| 156273292 | CV2283818 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+55G>A | not specified [RCV004142333] | uncertain significance | 5 | 54519628 | 54519628 | Human | | name |
| 405189251 | CV2974239 | microsatellite | NM_153816.6(SNX14):c.2746-26ATT[3] | not provided [RCV003677006] | likely benign | 6 | 85507304 | 85507306 | Human | | name |
| 150505687 | CV1222949 | microsatellite | NM_153816.6(SNX14):c.141-9_141-6del | SNX14-related disorder [RCV003980812]|not provided [RCV001621884] | benign | 6 | 85574384 | 85574387 | Human | | name , trait , alternate_id |
| 156249078 | CV2215515 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+132G>A | not specified [RCV004089299] | uncertain significance | 5 | 54519705 | 54519705 | Human | | name |
| 155983841 | CV2344352 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+193A>G | not specified [RCV004195108] | uncertain significance | 5 | 54519766 | 54519766 | Human | | name |
| 156255312 | CV2359353 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+250C>T | not specified [RCV004212632] | uncertain significance | 5 | 54519823 | 54519823 | Human | | name |
| 156060143 | CV2391846 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+211A>C | not specified [RCV004235723] | uncertain significance | 5 | 54519784 | 54519784 | Human | | name |
| 329385479 | CV2432159 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+118G>T | not specified [RCV004249305] | uncertain significance | 5 | 54519691 | 54519691 | Human | | name |
| 401883705 | CV2785741 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+210G>A | not specified [RCV004364996] | uncertain significance | 5 | 54519783 | 54519783 | Human | | name |
| 405248032 | CV2977467 | deletion | NM_013322.3(SNX10):c.25-19_25-16del | not provided [RCV003720988] | likely benign | 7 | 26360953 | 26360956 | Human | | name |
| 405732747 | CV3322589 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+261T>C | not specified [RCV004464551] | uncertain significance | 5 | 54519834 | 54519834 | Human | | name |
| 407503951 | CV3484803 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+228G>T | not specified [RCV004670390] | uncertain significance | 5 | 54519801 | 54519801 | Human | | name |
| 597745330 | CV3607263 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+130A>G | not specified [RCV004865648] | uncertain significance | 5 | 54519703 | 54519703 | Human | | name |
| 598171758 | CV3911694 | single nucleotide variant | NM_001102575.2(SNX18):c.1621+202T>C | not specified [RCV005284929] | uncertain significance | 5 | 54519775 | 54519775 | Human | | name |
| 152029195 | CV1653069 | deletion | NM_013322.3(SNX10):c.212+20_212+21del | not provided [RCV002085719] | likely benign | 7 | 26364655 | 26364656 | Human | | name |
| 156204823 | CV1959215 | deletion | NM_153816.6(SNX14):c.994-24_994-19del | not provided [RCV002574918] | likely benign|uncertain significance | 6 | 85547245 | 85547250 | Human | | name |
| 405145519 | CV2962588 | duplication | NM_013322.3(SNX10):c.311+11_311+18dup | not provided [RCV003673609] | likely benign | 7 | 26365155 | 26365156 | Human | | name |
| 150476830 | CV1218539 | duplication | NM_153816.6(SNX14):c.261+127_261+128dup | not provided [RCV001616166] | benign | 6 | 85574119 | 85574120 | Human | | name |
| 150450768 | CV1232717 | duplication | NM_153816.6(SNX14):c.262-193_262-187dup | not provided [RCV001647792] | benign | 6 | 85572560 | 85572561 | Human | | name |
| 150462882 | CV1263724 | deletion | NM_153816.6(SNX14):c.261+124_261+126del | not provided [RCV001682425] | benign | 6 | 85574132 | 85574134 | Human | | name |
| 156080586 | CV1959925 | deletion | NM_153816.6(SNX14):c.1995+20_1995+23del | not provided [RCV002569897] | benign | 6 | 85528239 | 85528242 | Human | | name |
| 155936548 | CV2075255 | deletion | NM_153816.6(SNX14):c.1608+17_1608+21del | not provided [RCV002839117] | likely benign | 6 | 85536771 | 85536775 | Human | | name |
| 12896766 | CV390597 | duplication | NM_015132.5(SNX13):c.1954-22_1954-21dup | not specified [RCV000455793] | benign | 7 | 17814952 | 17814953 | Human | | name |
| 150426426 | CV1187139 | microsatellite | NM_153816.6(SNX14):c.1476-232_1476-229del | not provided [RCV001559569] | likely benign | 6 | 85537153 | 85537156 | Human | | name |
| 21404938 | CV801086 | deletion | NM_153816.6(SNX14):c.550-2454_634+1868del | Seizure [RCV001003859] | likely pathogenic | 6 | 85556108 | 85560514 | Human | 2 | name |
| 150476287 | CV1216789 | insertion | NM_153816.6(SNX14):c.549+220_549+221insTGTT | not provided [RCV001616082] | benign | 6 | 85565111 | 85565112 | Human | | name |
| 10044324 | CV188144 | deletion | NM_153816.2(SNX14):c.1108+1181_2108-2342del | Autosomal recessive spinocerebellar ataxia 20 [RCV000170503] | pathogenic | | | | Human | 1 | name |
| 405267508 | CV3186846 | deletion | NM_153816.6(SNX14):c.2108-3655_2108-3635del | not provided [RCV003886929] | uncertain significance | 6 | 85521683 | 85521703 | Human | | name |
| 150544993 | CV1315369 | single nucleotide variant | NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV001783786]|SNX14-related disorder [RCV003416452]|not provided [RCV002541213] | pathogenic|likely pathogenic | 6 | 85574267 | 85574267 | Human | 1 | name , trait , alternate_id |
| 152051577 | CV1617078 | single nucleotide variant | NM_013322.3(SNX10):c.504T>C (p.Asp168=) | SNX10-related disorder [RCV003923443]|not provided [RCV002072452] | likely benign | 7 | 26372013 | 26372013 | Human | 1 | name , trait , alternate_id |
| 152115518 | CV1637195 | single nucleotide variant | NM_013322.3(SNX10):c.537G>A (p.Gly179=) | SNX10-related disorder [RCV003923547]|not provided [RCV002216075] | benign|likely benign | 7 | 26372503 | 26372503 | Human | 1 | name , trait , alternate_id |
| 152119098 | CV1664678 | single nucleotide variant | NM_013322.3(SNX10):c.162T>C (p.Tyr54=) | SNX10-related disorder [RCV003958715]|not provided [RCV002117608] | likely benign | 7 | 26364585 | 26364585 | Human | 1 | name , trait , alternate_id |
| 156371203 | CV1901358 | single nucleotide variant | NM_153816.6(SNX14):c.1710A>G (p.Pro570=) | SNX14-related disorder [RCV003963666]|not provided [RCV002582426] | likely benign|uncertain significance | 6 | 85533699 | 85533699 | Human | 1 | name , trait , alternate_id |
| 401904423 | CV2798059 | single nucleotide variant | NM_153816.6(SNX14):c.1345C>T (p.Leu449Phe) | SNX14-related disorder [RCV003422452] | uncertain significance | 6 | 85543226 | 85543226 | Human | | name , trait , alternate_id |
| 405259083 | CV3194505 | single nucleotide variant | NM_014748.4(SNX17):c.318A>G (p.Gln106=) | SNX17-related disorder [RCV003893902] | likely benign | 2 | 27373308 | 27373308 | Human | | name , trait , alternate_id |
| 405276153 | CV3203146 | single nucleotide variant | NM_153816.6(SNX14):c.915T>C (p.Pro305=) | SNX14-related disorder [RCV003941759] | likely benign | 6 | 85547395 | 85547395 | Human | | name , trait , alternate_id |
| 405291007 | CV3203919 | single nucleotide variant | NM_014748.4(SNX17):c.1223A>C (p.Asp408Ala) | SNX17-related disorder [RCV003927361] | likely benign | 2 | 27376353 | 27376353 | Human | | name , trait , alternate_id |
| 405276816 | CV3211770 | single nucleotide variant | NM_153816.6(SNX14):c.1800T>C (p.Asp600=) | SNX14-related disorder [RCV003947063] | likely benign | 6 | 85533609 | 85533609 | Human | | name , trait , alternate_id |
| 405282418 | CV3212910 | single nucleotide variant | NM_014748.4(SNX17):c.873C>T (p.Ser291=) | SNX17-related disorder [RCV003957031] | likely benign | 2 | 27375604 | 27375604 | Human | | name , trait , alternate_id |
| 405279662 | CV3217583 | single nucleotide variant | NM_153816.6(SNX14):c.1818C>T (p.His606=) | SNX14-related disorder [RCV003976965]|not provided [RCV005103098] | likely benign | 6 | 85530268 | 85530268 | Human | 1 | name , trait , alternate_id |
| 15160884 | CV710633 | single nucleotide variant | NM_153816.6(SNX14):c.1239C>T (p.Pro413=) | SNX14-related disorder [RCV003918422]|not provided [RCV000969987] | benign|likely benign | 6 | 85543630 | 85543630 | Human | 1 | name , trait , alternate_id |
| 15110091 | CV722164 | single nucleotide variant | NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser) | SNX14-related disorder [RCV003950432]|not provided [RCV000893992]|not specified [RCV002249573] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 85547145 | 85547145 | Human | 1 | name , trait , alternate_id |
| 15116969 | CV735804 | single nucleotide variant | NM_153816.6(SNX14):c.1074C>T (p.Gly358=) | SNX14-related disorder [RCV003968180]|not provided [RCV000895296] | likely benign|conflicting interpretations of pathogenicity | 6 | 85547146 | 85547146 | Human | 1 | name , trait , alternate_id |
| 15196787 | CV750263 | single nucleotide variant | NM_153816.6(SNX14):c.99C>T (p.Phe33=) | SNX14-related disorder [RCV003932991]|not provided [RCV000911794] | likely benign | 6 | 85593620 | 85593620 | Human | 1 | name , trait , alternate_id |
| 152092731 | CV1631854 | single nucleotide variant | NM_013322.3(SNX10):c.9G>A (p.Pro3=) | not provided [RCV002132246] | benign | 7 | 26346451 | 26346451 | Human | | name |
| 15166853 | CV722167 | single nucleotide variant | NM_153816.6(SNX14):c.9C>T (p.Pro3=) | not provided [RCV000882723] | likely benign | 6 | 85593710 | 85593710 | Human | | name |
| 597951413 | CV3843299 | single nucleotide variant | NM_013322.3(SNX10):c.12A>G (p.Glu4=) | not provided [RCV005190349] | likely benign | 7 | 26346454 | 26346454 | Human | | name |
| 15111363 | CV768311 | single nucleotide variant | NM_014758.3(SNX19):c.15A>G (p.Thr5=) | not provided [RCV000938734] | likely benign | 11 | 130915925 | 130915925 | Human | | name |
| 151765149 | CV1407757 | single nucleotide variant | NM_013322.3(SNX10):c.8C>T (p.Pro3Leu) | not provided [RCV002044704] | uncertain significance | 7 | 26346450 | 26346450 | Human | | name |
| 156230897 | CV2048679 | single nucleotide variant | NM_013322.3(SNX10):c.45T>G (p.Val15=) | not provided [RCV002790994] | likely benign | 7 | 26360995 | 26360995 | Human | | name |
| 404978784 | CV3013137 | single nucleotide variant | NM_013322.3(SNX10):c.33A>G (p.Val11=) | not provided [RCV003690852] | likely benign | 7 | 26360983 | 26360983 | Human | | name |
| 405732478 | CV3322556 | single nucleotide variant | NM_153816.6(SNX14):c.4G>A (p.Val2Met) | Inborn genetic diseases [RCV004464518] | uncertain significance | 6 | 85593715 | 85593715 | Human | 1 | name |
| 15178345 | CV768310 | single nucleotide variant | NM_014758.3(SNX19):c.39A>C (p.Pro13=) | not provided [RCV000929376] | likely benign | 11 | 130915901 | 130915901 | Human | | name |
| 151852032 | CV1360851 | single nucleotide variant | NM_013322.3(SNX10):c.22G>A (p.Glu8Lys) | not provided [RCV001904226] | uncertain significance | 7 | 26346464 | 26346464 | Human | | name |
| 151808721 | CV1474846 | single nucleotide variant | NM_013322.3(SNX10):c.237A>G (p.Lys79=) | not provided [RCV001932983] | likely benign|uncertain significance | 7 | 26365071 | 26365071 | Human | | name |
| 151767390 | CV1492985 | single nucleotide variant | NM_013322.3(SNX10):c.16C>T (p.Gln6Ter) | not provided [RCV001914643] | pathogenic | 7 | 26346458 | 26346458 | Human | | name |
| 152142146 | CV1533090 | single nucleotide variant | NM_013322.3(SNX10):c.204G>A (p.Ala68=) | not provided [RCV002156913] | likely benign | 7 | 26364627 | 26364627 | Human | | name |
| 152164642 | CV1611088 | single nucleotide variant | NM_013322.3(SNX10):c.219G>C (p.Leu73=) | not provided [RCV002141562] | likely benign | 7 | 26365053 | 26365053 | Human | | name |
| 156435597 | CV1944031 | single nucleotide variant | NM_153816.6(SNX14):c.204A>G (p.Ser68=) | not provided [RCV003109044] | likely benign | 6 | 85574315 | 85574315 | Human | | name |
| 156375392 | CV1960162 | single nucleotide variant | NM_153816.6(SNX14):c.279A>G (p.Glu93=) | not provided [RCV002582759] | likely benign | 6 | 85572357 | 85572357 | Human | | name |
| 156007579 | CV1981279 | single nucleotide variant | NM_013322.3(SNX10):c.270C>T (p.His90=) | not provided [RCV002618740] | likely benign | 7 | 26365104 | 26365104 | Human | | name |
| 155947421 | CV2234813 | single nucleotide variant | NM_014758.3(SNX19):c.23C>T (p.Pro8Leu) | not specified [RCV004113040] | uncertain significance | 11 | 130915917 | 130915917 | Human | | name |
| 405239732 | CV2993322 | single nucleotide variant | NM_013322.3(SNX10):c.17A>C (p.Gln6Pro) | not provided [RCV003718875] | uncertain significance | 7 | 26346459 | 26346459 | Human | | name |
| 402467833 | CV3174188 | single nucleotide variant | NM_013322.3(SNX10):c.178C>T (p.Leu60=) | not provided [RCV003873471] | likely benign | 7 | 26364601 | 26364601 | Human | | name |
| 405732307 | CV3326373 | single nucleotide variant | NM_013323.3(SNX11):c.231G>A (p.Val77=) | not specified [RCV004464497] | likely benign | 17 | 48118704 | 48118704 | Human | | name |
| 597865922 | CV3742336 | single nucleotide variant | NM_153816.6(SNX14):c.189C>T (p.Val63=) | not provided [RCV005067952] | likely benign | 6 | 85574330 | 85574330 | Human | | name |
| 597831005 | CV3743740 | single nucleotide variant | NM_013322.3(SNX10):c.129T>C (p.Phe43=) | not provided [RCV005062557] | likely benign | 7 | 26364552 | 26364552 | Human | | name |
| 597938948 | CV3852940 | single nucleotide variant | NM_153816.6(SNX14):c.234A>T (p.Ile78=) | not provided [RCV005187341] | likely benign | 6 | 85574285 | 85574285 | Human | | name |
| 597911032 | CV3854256 | single nucleotide variant | NM_013322.3(SNX10):c.243G>A (p.Leu81=) | not provided [RCV005203526] | likely benign | 7 | 26365077 | 26365077 | Human | | name |
| 15135027 | CV750597 | single nucleotide variant | NM_013322.3(SNX10):c.171C>T (p.Phe57=) | not provided [RCV000920783] | likely benign | 7 | 26364594 | 26364594 | Human | | name |
| 15164503 | CV750598 | single nucleotide variant | NM_013322.3(SNX10):c.234T>C (p.Ser78=) | not provided [RCV000926397] | likely benign | 7 | 26365068 | 26365068 | Human | | name |
| 15138347 | CV782845 | single nucleotide variant | NM_013322.3(SNX10):c.198T>C (p.Ser66=) | not provided [RCV000982457] | likely benign | 7 | 26364621 | 26364621 | Human | | name |
| 151857210 | CV1348009 | single nucleotide variant | NM_013322.3(SNX10):c.94T>G (p.Tyr32Asp) | not provided [RCV001979672] | uncertain significance | 7 | 26361044 | 26361044 | Human | | name |
| 151852379 | CV1376062 | single nucleotide variant | NM_013322.3(SNX10):c.80A>G (p.His27Arg) | Inborn genetic diseases [RCV002625412]|not provided [RCV001996132] | uncertain significance | 7 | 26361030 | 26361030 | Human | 1 | name |
| 151736399 | CV1387764 | single nucleotide variant | NM_013322.3(SNX10):c.459T>C (p.Asn153=) | not provided [RCV002005349] | likely benign|uncertain significance | 7 | 26371968 | 26371968 | Human | | name |
| 151796982 | CV1392714 | single nucleotide variant | NM_013322.3(SNX10):c.88A>G (p.Ile30Val) | not provided [RCV001898707] | uncertain significance | 7 | 26361038 | 26361038 | Human | | name |
| 151712759 | CV1423368 | deletion | NM_013322.3(SNX10):c.230del (p.Pro77fs) | not provided [RCV002002304] | pathogenic | 7 | 26365063 | 26365063 | Human | | name |
| 151756858 | CV1426224 | single nucleotide variant | NM_013322.3(SNX10):c.87C>A (p.Tyr29Ter) | not provided [RCV002007416] | pathogenic | 7 | 26361037 | 26361037 | Human | | name |
| 8696082 | CV143196 | single nucleotide variant | NM_013322.3(SNX10):c.46C>T (p.Arg16Ter) | Autosomal recessive osteopetrosis 8 [RCV000128452]|not provided [RCV001849913] | pathogenic | 7 | 26360996 | 26360996 | Human | 1 | name |
| 151813754 | CV1494652 | single nucleotide variant | NM_013322.3(SNX10):c.42G>T (p.Trp14Cys) | not provided [RCV001954081] | uncertain significance | 7 | 26360992 | 26360992 | Human | | name |
| 152145456 | CV1582667 | single nucleotide variant | NM_013322.3(SNX10):c.354C>T (p.His118=) | not provided [RCV002201169] | likely benign | 7 | 26371863 | 26371863 | Human | | name |
| 156437229 | CV1937059 | single nucleotide variant | NM_153816.6(SNX14):c.507A>G (p.Thr169=) | not provided [RCV003106760] | likely benign | 6 | 85565374 | 85565374 | Human | | name |
| 156440527 | CV1943578 | single nucleotide variant | NM_013322.3(SNX10):c.396G>A (p.Ala132=) | not provided [RCV003110562] | likely benign | 7 | 26371905 | 26371905 | Human | | name |
| 156377622 | CV1956938 | single nucleotide variant | NM_153816.6(SNX14):c.996G>A (p.Val332=) | not provided [RCV002582933] | likely benign | 6 | 85547224 | 85547224 | Human | | name |
| 156237057 | CV1973035 | single nucleotide variant | NM_013322.3(SNX10):c.30T>G (p.Phe10Leu) | not provided [RCV002597014] | uncertain significance | 7 | 26360980 | 26360980 | Human | | name |
| 156002564 | CV2045655 | single nucleotide variant | NM_153816.6(SNX14):c.933G>A (p.Pro311=) | not provided [RCV002756280] | likely benign | 6 | 85547377 | 85547377 | Human | | name |
| 156365151 | CV2167264 | single nucleotide variant | NM_013322.3(SNX10):c.501T>C (p.Asn167=) | not provided [RCV003031836] | likely benign | 7 | 26372010 | 26372010 | Human | | name |
| 156165873 | CV2184712 | single nucleotide variant | NM_013322.3(SNX10):c.531C>G (p.Ser177=) | not provided [RCV003057068] | likely benign | 7 | 26372497 | 26372497 | Human | | name |
| 156083777 | CV2299013 | single nucleotide variant | NM_014758.3(SNX19):c.56A>G (p.His19Arg) | not specified [RCV004158534] | uncertain significance | 11 | 130915884 | 130915884 | Human | | name |
| 155972607 | CV2309425 | single nucleotide variant | NM_015132.5(SNX13):c.64A>G (p.Ile22Val) | not specified [RCV004165567] | likely benign | 7 | 17897395 | 17897395 | Human | | name |
| 156073044 | CV2325394 | single nucleotide variant | NM_013306.5(SNX15):c.88G>C (p.Val30Leu) | not specified [RCV004177761] | uncertain significance | 11 | 65027625 | 65027625 | Human | | name |
| 401747584 | CV2729862 | single nucleotide variant | NM_153816.6(SNX14):c.94T>A (p.Cys32Ser) | Inborn genetic diseases [RCV003288734]|not provided [RCV005102843] | uncertain significance | 6 | 85593625 | 85593625 | Human | 1 | name |
| 405213769 | CV2879499 | single nucleotide variant | NM_013322.3(SNX10):c.95A>C (p.Tyr32Ser) | not provided [RCV003552950] | likely pathogenic | 7 | 26361045 | 26361045 | Human | | name |
| 405157020 | CV2890591 | single nucleotide variant | NM_013322.3(SNX10):c.387C>T (p.Asp129=) | not provided [RCV003562010] | likely benign | 7 | 26371896 | 26371896 | Human | | name |
| 402508742 | CV2892639 | single nucleotide variant | NM_153816.6(SNX14):c.600G>A (p.Lys200=) | not provided [RCV003554781] | likely benign | 6 | 85558010 | 85558010 | Human | | name |
| 405118947 | CV2955925 | single nucleotide variant | NM_013322.3(SNX10):c.420C>T (p.Tyr140=) | not provided [RCV003671255] | likely benign | 7 | 26371929 | 26371929 | Human | | name |
| 405732692 | CV3322583 | single nucleotide variant | NM_014748.4(SNX17):c.53C>T (p.Ser18Phe) | not specified [RCV004464545] | uncertain significance | 2 | 27370796 | 27370796 | Human | | name |
| 405732917 | CV3322611 | single nucleotide variant | NM_014758.3(SNX19):c.29A>G (p.Gln10Arg) | not specified [RCV004464573] | uncertain significance | 11 | 130915911 | 130915911 | Human | | name |
| 407503966 | CV3484809 | single nucleotide variant | NM_014758.3(SNX19):c.40G>C (p.Ala14Pro) | not specified [RCV004670394] | uncertain significance | 11 | 130915900 | 130915900 | Human | | name |
| 407503969 | CV3484810 | single nucleotide variant | NM_014758.3(SNX19):c.61A>T (p.Asn21Tyr) | not specified [RCV004670395] | uncertain significance | 11 | 130915879 | 130915879 | Human | | name |
| 597741008 | CV3607227 | single nucleotide variant | NM_013323.3(SNX11):c.74G>A (p.Arg25Gln) | not specified [RCV004864773] | uncertain significance | 17 | 48112605 | 48112605 | Human | | name |
| 597741037 | CV3607252 | single nucleotide variant | NM_152836.3(SNX16):c.34A>G (p.Ile12Val) | not specified [RCV004864779] | uncertain significance | 8 | 81839953 | 81839953 | Human | | name |
| 597745377 | CV3607278 | single nucleotide variant | NM_014758.3(SNX19):c.43G>A (p.Gly15Arg) | not specified [RCV004865657] | uncertain significance | 11 | 130915897 | 130915897 | Human | | name |
| 597741098 | CV3607285 | single nucleotide variant | NM_014758.3(SNX19):c.80G>C (p.Arg27Pro) | not specified [RCV004864792] | uncertain significance | 11 | 130915860 | 130915860 | Human | | name |
| 597745408 | CV3607288 | single nucleotide variant | NM_014758.3(SNX19):c.79C>T (p.Arg27Trp) | not specified [RCV004865663] | uncertain significance | 11 | 130915861 | 130915861 | Human | | name |
| 597703242 | CV3719046 | duplication | NM_013322.3(SNX10):c.86dup (p.Tyr29Ter) | Autosomal recessive osteopetrosis 8 [RCV005033703] | likely pathogenic | 7 | 26361035 | 26361036 | Human | 1 | name |
| 597842128 | CV3825654 | single nucleotide variant | NM_013322.3(SNX10):c.603C>T (p.Ser201=) | not provided [RCV005172337] | likely benign | 7 | 26372569 | 26372569 | Human | | name |
| 597975141 | CV3832242 | single nucleotide variant | NM_153816.6(SNX14):c.756T>C (p.Phe252=) | not provided [RCV005168978] | likely benign | 6 | 85549758 | 85549758 | Human | | name |
| 597831895 | CV3863981 | single nucleotide variant | NM_153816.6(SNX14):c.28C>T (p.Gln10Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV005208396] | likely pathogenic | 6 | 85593691 | 85593691 | Human | 1 | name |
| 598171664 | CV3911676 | single nucleotide variant | NM_152836.3(SNX16):c.92G>A (p.Gly31Asp) | not specified [RCV005284911] | uncertain significance | 8 | 81839895 | 81839895 | Human | | name |
| 616939911 | CV4014372 | single nucleotide variant | NM_153816.6(SNX14):c.498G>A (p.Leu166=) | not provided [RCV005413866] | uncertain significance | 6 | 85565383 | 85565383 | Human | | name |
| 15169150 | CV722165 | single nucleotide variant | NM_153816.6(SNX14):c.516T>C (p.Phe172=) | not provided [RCV000883208] | benign|likely benign | 6 | 85565365 | 85565365 | Human | | name |
| 15189377 | CV736095 | single nucleotide variant | NM_013322.3(SNX10):c.339A>G (p.Ser113=) | not provided [RCV000909632] | benign | 7 | 26371848 | 26371848 | Human | | name |
| 15193431 | CV750599 | single nucleotide variant | NM_013322.3(SNX10):c.531C>T (p.Ser177=) | not provided [RCV000910836] | likely benign | 7 | 26372497 | 26372497 | Human | | name |
| 15111230 | CV765898 | single nucleotide variant | NM_153816.6(SNX14):c.561A>G (p.Pro187=) | not provided [RCV000938710] | likely benign | 6 | 85558049 | 85558049 | Human | | name |
| 8630289 | CV85444 | single nucleotide variant | NM_014748.3(SNX17):c.354C>T (p.Ser118=) | Malignant melanoma [RCV000065527] | not provided | 2 | 27373893 | 27373893 | Human | | name |
| 126728969 | CV1016797 | single nucleotide variant | NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) | Autosomal recessive spinocerebellar ataxia 20 [RCV001333018] | uncertain significance | 6 | 85593588 | 85593588 | Human | 1 | name |
| 126728964 | CV1016798 | single nucleotide variant | NM_153816.6(SNX14):c.119C>T (p.Ala40Val) | Autosomal recessive spinocerebellar ataxia 20 [RCV001333017] | uncertain significance | 6 | 85593600 | 85593600 | Human | 1 | name |
| 126775018 | CV1027995 | single nucleotide variant | NM_013322.3(SNX10):c.271G>A (p.Val91Met) | not provided [RCV001347894] | uncertain significance | 7 | 26365105 | 26365105 | Human | | name |
| 126909063 | CV1053085 | deletion | NM_153816.6(SNX14):c.512del (p.Arg171fs) | Neurodevelopmental disorder [RCV001374927]|not provided [RCV003120589] | pathogenic|likely pathogenic | 6 | 85565369 | 85565369 | Human | 1 | name |
| 150516225 | CV1287262 | single nucleotide variant | NM_153816.6(SNX14):c.295C>T (p.His99Tyr) | Autosomal recessive spinocerebellar ataxia 20 [RCV001723254] | uncertain significance | 6 | 85572341 | 85572341 | Human | 1 | name |
| 150535340 | CV1311855 | single nucleotide variant | NM_153816.6(SNX14):c.159G>T (p.Met53Ile) | Inborn genetic diseases [RCV004040795]|not provided [RCV001779665] | uncertain significance | 6 | 85574360 | 85574360 | Human | 1 | name |
| 151753632 | CV1405330 | single nucleotide variant | NM_013322.3(SNX10):c.143C>G (p.Ser48Cys) | not provided [RCV001927773] | uncertain significance | 7 | 26364566 | 26364566 | Human | | name |
| 151754267 | CV1407392 | single nucleotide variant | NM_013322.3(SNX10):c.259A>G (p.Asn87Asp) | not provided [RCV002023702] | uncertain significance | 7 | 26365093 | 26365093 | Human | | name |
| 151772407 | CV1418006 | single nucleotide variant | NM_013322.3(SNX10):c.194A>G (p.Gln65Arg) | not provided [RCV001874582] | uncertain significance | 7 | 26364617 | 26364617 | Human | | name |
| 151807699 | CV1462768 | single nucleotide variant | NM_013322.3(SNX10):c.262C>A (p.Arg88Ser) | not provided [RCV001991525] | uncertain significance | 7 | 26365096 | 26365096 | Human | | name |
| 151870617 | CV1466541 | single nucleotide variant | NM_013322.3(SNX10):c.203C>T (p.Ala68Val) | not provided [RCV001906428] | uncertain significance | 7 | 26364626 | 26364626 | Human | | name |
| 151858708 | CV1486431 | single nucleotide variant | NM_013322.3(SNX10):c.133A>G (p.Met45Val) | not provided [RCV001883648] | uncertain significance | 7 | 26364556 | 26364556 | Human | | name |
| 151846270 | CV1488150 | single nucleotide variant | NM_013322.3(SNX10):c.295G>C (p.Glu99Gln) | not provided [RCV001995375] | uncertain significance | 7 | 26365129 | 26365129 | Human | | name |
| 155268293 | CV1705322 | single nucleotide variant | NM_153816.6(SNX14):c.125C>G (p.Ser42Cys) | Inborn genetic diseases [RCV005281164]|not provided [RCV002285927] | uncertain significance | 6 | 85593594 | 85593594 | Human | 1 | name |
| 10044325 | CV188145 | duplication | NM_153816.6(SNX14):c.645dup (p.Glu216fs) | Autosomal recessive spinocerebellar ataxia 20 [RCV000170504] | pathogenic | 6 | 85549868 | 85549869 | Human | 1 | name |
| 155984473 | CV1883872 | single nucleotide variant | NM_013322.3(SNX10):c.260A>G (p.Asn87Ser) | Inborn genetic diseases [RCV003087571]|not provided [RCV003075820] | uncertain significance | 7 | 26365094 | 26365094 | Human | 1 | name |
| 156315382 | CV1901182 | single nucleotide variant | NM_153816.6(SNX14):c.1791A>G (p.Glu597=) | not provided [RCV002578923] | likely benign | 6 | 85533618 | 85533618 | Human | | name |
| 156416390 | CV1905076 | single nucleotide variant | NM_153816.6(SNX14):c.2580T>A (p.Thr860=) | not provided [RCV002610152] | likely benign | 6 | 85513873 | 85513873 | Human | | name |
| 156376980 | CV1930588 | single nucleotide variant | NM_013322.3(SNX10):c.262C>T (p.Arg88Cys) | not provided [RCV002633919] | uncertain significance | 7 | 26365096 | 26365096 | Human | | name |
| 156435839 | CV1945196 | single nucleotide variant | NM_153816.6(SNX14):c.2364A>G (p.Glu788=) | not provided [RCV003116136] | likely benign | 6 | 85514534 | 85514534 | Human | | name |
| 156288960 | CV1961355 | single nucleotide variant | NM_013322.3(SNX10):c.281G>A (p.Arg94His) | not provided [RCV002577753] | uncertain significance | 7 | 26365115 | 26365115 | Human | | name |
| 156415134 | CV1965202 | single nucleotide variant | NM_153816.6(SNX14):c.1038T>A (p.Leu346=) | not provided [RCV002588994] | likely benign | 6 | 85547182 | 85547182 | Human | | name |
| 156317692 | CV1971306 | single nucleotide variant | NM_153816.6(SNX14):c.1059T>C (p.Phe353=) | not provided [RCV002630155] | likely benign | 6 | 85547161 | 85547161 | Human | | name |
| 156415228 | CV1990886 | single nucleotide variant | NM_013322.3(SNX10):c.251A>G (p.Asn84Ser) | not provided [RCV002609570] | uncertain significance | 7 | 26365085 | 26365085 | Human | | name |
| 156356118 | CV2001490 | single nucleotide variant | NM_153816.6(SNX14):c.1374C>T (p.Phe458=) | not provided [RCV002675935] | likely benign | 6 | 85543197 | 85543197 | Human | | name |
| 156087461 | CV2007325 | single nucleotide variant | NM_013322.3(SNX10):c.172G>A (p.Val58Met) | not provided [RCV002694820] | uncertain significance | 7 | 26364595 | 26364595 | Human | | name |
| 156285987 | CV2039233 | single nucleotide variant | NM_013322.3(SNX10):c.263G>T (p.Arg88Leu) | not provided [RCV002770564] | uncertain significance | 7 | 26365097 | 26365097 | Human | | name |
| 156249913 | CV2060334 | single nucleotide variant | NM_153816.6(SNX14):c.2434T>C (p.Leu812=) | not provided [RCV002791656] | likely benign | 6 | 85514193 | 85514193 | Human | | name |
| 155950316 | CV2076334 | single nucleotide variant | NM_153816.6(SNX14):c.1665A>T (p.Thr555=) | not provided [RCV002862313] | likely benign | 6 | 85533744 | 85533744 | Human | | name |
| 156034637 | CV2097662 | single nucleotide variant | NM_153816.6(SNX14):c.2688G>A (p.Lys896=) | not provided [RCV002885553] | likely benign | 6 | 85508025 | 85508025 | Human | | name |
| 156224479 | CV2121738 | single nucleotide variant | NM_013322.3(SNX10):c.211G>A (p.Val71Ile) | not provided [RCV002958274] | uncertain significance | 7 | 26364634 | 26364634 | Human | | name |
| 156319980 | CV2137997 | single nucleotide variant | NM_153816.6(SNX14):c.268G>A (p.Gly90Arg) | not provided [RCV002963133] | uncertain significance | 6 | 85572368 | 85572368 | Human | | name |
| 155947993 | CV2151015 | single nucleotide variant | NM_153816.6(SNX14):c.1671T>C (p.Asn557=) | not provided [RCV003014685] | likely benign | 6 | 85533738 | 85533738 | Human | | name |
| 156304396 | CV2157071 | single nucleotide variant | NM_153816.6(SNX14):c.2433C>T (p.Leu811=) | not provided [RCV003028248] | likely benign | 6 | 85514194 | 85514194 | Human | | name |
| 156336390 | CV2168439 | single nucleotide variant | NM_013322.3(SNX10):c.160T>C (p.Tyr54His) | not provided [RCV003030047] | uncertain significance | 7 | 26364583 | 26364583 | Human | | name |
| 156122470 | CV2241102 | single nucleotide variant | NM_015132.5(SNX13):c.163T>A (p.Ser55Thr) | not specified [RCV004104138] | uncertain significance | 7 | 17893397 | 17893397 | Human | | name |
| 155977842 | CV2266452 | single nucleotide variant | NM_014758.3(SNX19):c.265C>T (p.Pro89Ser) | not specified [RCV004131034] | uncertain significance | 11 | 130915675 | 130915675 | Human | | name |
| 156011735 | CV2291176 | single nucleotide variant | NM_013346.4(SNX12):c.205C>T (p.Arg69Trp) | not specified [RCV004153479] | uncertain significance | X | 71062910 | 71062910 | Human | | name |
| 156103430 | CV2313745 | single nucleotide variant | NM_015132.5(SNX13):c.218G>A (p.Gly73Glu) | not specified [RCV004157657] | uncertain significance | 7 | 17893342 | 17893342 | Human | | name |
| 156193564 | CV2351785 | single nucleotide variant | NM_013322.3(SNX10):c.283C>T (p.Arg95Cys) | Inborn genetic diseases [RCV002957117] | uncertain significance | 7 | 26365117 | 26365117 | Human | 1 | name |
| 155996035 | CV2393136 | single nucleotide variant | NM_014758.3(SNX19):c.274C>T (p.Pro92Ser) | not specified [RCV004226615] | uncertain significance | 11 | 130915666 | 130915666 | Human | | name |
| 401771634 | CV2686275 | single nucleotide variant | NM_014758.3(SNX19):c.257C>T (p.Ala86Val) | not specified [RCV004297359] | uncertain significance | 11 | 130915683 | 130915683 | Human | | name |
| 401730925 | CV2686789 | single nucleotide variant | NM_152836.3(SNX16):c.286C>A (p.Gln96Lys) | not specified [RCV004301971] | uncertain significance | 8 | 81839701 | 81839701 | Human | | name |
| 401761566 | CV2699346 | single nucleotide variant | NM_014748.4(SNX17):c.181C>G (p.Pro61Ala) | not specified [RCV004305934] | uncertain significance | 2 | 27372665 | 27372665 | Human | | name |
| 401740449 | CV2706214 | single nucleotide variant | NM_013322.3(SNX10):c.247T>C (p.Phe83Leu) | Inborn genetic diseases [RCV003292377] | uncertain significance | 7 | 26365081 | 26365081 | Human | 1 | name |
| 401738981 | CV2708270 | single nucleotide variant | NM_013346.4(SNX12):c.217A>G (p.Ser73Gly) | not specified [RCV004311612] | uncertain significance | X | 71062898 | 71062898 | Human | | name |
| 401781969 | CV2722366 | single nucleotide variant | NM_015132.5(SNX13):c.158C>G (p.Thr53Arg) | not specified [RCV004322775] | uncertain significance | 7 | 17893402 | 17893402 | Human | | name |
| 401783403 | CV2723535 | single nucleotide variant | NM_013322.3(SNX10):c.280C>G (p.Arg94Gly) | Inborn genetic diseases [RCV003309542] | uncertain significance | 7 | 26365114 | 26365114 | Human | 1 | name |
| 401751587 | CV2727058 | single nucleotide variant | NM_013306.5(SNX15):c.286C>T (p.Arg96Trp) | not specified [RCV004325433] | uncertain significance | 11 | 65034876 | 65034876 | Human | | name |
| 401769564 | CV2731417 | single nucleotide variant | NM_015132.5(SNX13):c.237A>C (p.Glu79Asp) | not specified [RCV004330779] | uncertain significance | 7 | 17891627 | 17891627 | Human | | name |
| 401884203 | CV2762781 | single nucleotide variant | NM_014758.3(SNX19):c.287G>A (p.Arg96Lys) | not specified [RCV004340333] | uncertain significance | 11 | 130915653 | 130915653 | Human | | name |
| 401861036 | CV2772681 | single nucleotide variant | NM_013306.5(SNX15):c.157A>G (p.Ser53Gly) | not specified [RCV004355418] | uncertain significance | 11 | 65032452 | 65032452 | Human | | name |
| 401870004 | CV2792248 | single nucleotide variant | NM_014758.3(SNX19):c.151C>G (p.Leu51Val) | not specified [RCV004361444] | uncertain significance | 11 | 130915789 | 130915789 | Human | | name |
| 401905770 | CV2810027 | single nucleotide variant | NM_014758.3(SNX19):c.2973C>G (p.Ser991=) | not provided [RCV003396093] | likely benign | 11 | 130878428 | 130878428 | Human | | name |
| 401904883 | CV2820521 | single nucleotide variant | NM_153816.6(SNX14):c.2004G>A (p.Leu668=) | not provided [RCV003431933] | likely benign | 6 | 85526229 | 85526229 | Human | | name |
| 401925611 | CV2828327 | single nucleotide variant | NM_015132.5(SNX13):c.1152A>G (p.Leu384=) | not provided [RCV003436663] | likely benign | 7 | 17845608 | 17845608 | Human | | name |
| 401925612 | CV2828328 | single nucleotide variant | NM_015132.5(SNX13):c.1110C>T (p.Cys370=) | not provided [RCV003436664] | likely benign | 7 | 17845650 | 17845650 | Human | | name |
| 401905181 | CV2831403 | deletion | NM_013322.3(SNX10):c.302del (p.Phe101fs) | Autosomal recessive osteopetrosis 8 [RCV003444394] | likely pathogenic | 7 | 26365134 | 26365134 | Human | 1 | name |
| 402506509 | CV2854084 | single nucleotide variant | NM_153816.6(SNX14):c.1638T>C (p.Asp546=) | not provided [RCV003541996] | likely benign | 6 | 85533771 | 85533771 | Human | | name |
| 402511004 | CV2925124 | single nucleotide variant | NM_153816.6(SNX14):c.2325G>A (p.Lys775=) | not provided [RCV003567575] | likely benign | 6 | 85514573 | 85514573 | Human | | name |
| 402508388 | CV3036238 | single nucleotide variant | NM_013322.3(SNX10):c.263G>A (p.Arg88His) | not provided [RCV003715434] | uncertain significance | 7 | 26365097 | 26365097 | Human | | name |
| 405121200 | CV3116578 | single nucleotide variant | NM_153816.6(SNX14):c.2481T>G (p.Thr827=) | not provided [RCV003814880] | likely benign | 6 | 85514146 | 85514146 | Human | | name |
| 405166953 | CV3125717 | single nucleotide variant | NM_013322.3(SNX10):c.121A>G (p.Met41Val) | not provided [RCV003818800] | uncertain significance | 7 | 26364544 | 26364544 | Human | | name |
| 405732500 | CV3322559 | single nucleotide variant | NM_013306.5(SNX15):c.160G>A (p.Asp54Asn) | not specified [RCV004464521] | uncertain significance | 11 | 65032455 | 65032455 | Human | | name |
| 405732509 | CV3322560 | single nucleotide variant | NM_013306.5(SNX15):c.166C>A (p.Arg56Ser) | not specified [RCV004464522] | uncertain significance | 11 | 65032461 | 65032461 | Human | | name |
| 405732516 | CV3322561 | single nucleotide variant | NM_013306.5(SNX15):c.200G>A (p.Arg67His) | not specified [RCV004464523] | uncertain significance | 11 | 65032495 | 65032495 | Human | | name |
| 405732523 | CV3322562 | single nucleotide variant | NM_013306.5(SNX15):c.275T>G (p.Val92Gly) | not specified [RCV004464524] | uncertain significance | 11 | 65034865 | 65034865 | Human | | name |
| 405732569 | CV3322568 | single nucleotide variant | NM_152836.3(SNX16):c.185A>C (p.Asp62Ala) | not specified [RCV004464530] | uncertain significance | 8 | 81839802 | 81839802 | Human | | name |
| 405732575 | CV3322569 | single nucleotide variant | NM_152836.3(SNX16):c.194C>T (p.Ser65Leu) | not specified [RCV004464531] | uncertain significance | 8 | 81839793 | 81839793 | Human | | name |
| 405732582 | CV3322570 | single nucleotide variant | NM_152836.3(SNX16):c.199G>A (p.Val67Ile) | not specified [RCV004464532] | uncertain significance | 8 | 81839788 | 81839788 | Human | | name |
| 405732675 | CV3322581 | single nucleotide variant | NM_014748.4(SNX17):c.164T>C (p.Val55Ala) | not specified [RCV004464543] | uncertain significance | 2 | 27372648 | 27372648 | Human | | name |
| 405732799 | CV3322596 | single nucleotide variant | NM_014758.3(SNX19):c.115C>G (p.Leu39Val) | not specified [RCV004464558] | uncertain significance | 11 | 130915825 | 130915825 | Human | | name |
| 405732813 | CV3322598 | single nucleotide variant | NM_014758.3(SNX19):c.142G>T (p.Val48Leu) | not specified [RCV004464560] | uncertain significance | 11 | 130915798 | 130915798 | Human | | name |
| 405732293 | CV3326371 | single nucleotide variant | NM_013322.3(SNX10):c.254T>C (p.Met85Thr) | Inborn genetic diseases [RCV004464495] | uncertain significance | 7 | 26365088 | 26365088 | Human | 1 | name |
| 405732301 | CV3326372 | single nucleotide variant | NM_013323.3(SNX11):c.176G>A (p.Arg59His) | not specified [RCV004464496] | uncertain significance | 17 | 48113347 | 48113347 | Human | | name |
| 407503926 | CV3484787 | single nucleotide variant | NM_153816.6(SNX14):c.148C>G (p.His50Asp) | Inborn genetic diseases [RCV004670382] | uncertain significance | 6 | 85574371 | 85574371 | Human | 1 | name |
| 596922174 | CV3535722 | single nucleotide variant | NM_013322.3(SNX10):c.295G>T (p.Glu99Ter) | Autosomal recessive osteopetrosis 8 [RCV004785264] | likely pathogenic | 7 | 26365129 | 26365129 | Human | 1 | name |
| 597745211 | CV3607230 | single nucleotide variant | NM_013323.3(SNX11):c.134A>G (p.Asn45Ser) | not specified [RCV004865626] | uncertain significance | 17 | 48113305 | 48113305 | Human | | name |
| 597741018 | CV3607231 | single nucleotide variant | NM_013323.3(SNX11):c.182G>A (p.Arg61His) | not specified [RCV004864775] | uncertain significance | 17 | 48113353 | 48113353 | Human | | name |
| 597745216 | CV3607232 | single nucleotide variant | NM_013346.4(SNX12):c.206G>A (p.Arg69Gln) | not specified [RCV004865627] | uncertain significance | X | 71062909 | 71062909 | Human | | name |
| 597745249 | CV3607240 | single nucleotide variant | NM_015132.5(SNX13):c.293A>G (p.Asn98Ser) | not specified [RCV004865633] | uncertain significance | 7 | 17891571 | 17891571 | Human | | name |
| 597745287 | CV3607249 | single nucleotide variant | NM_013306.5(SNX15):c.115G>C (p.Asp39His) | not specified [RCV004865640] | uncertain significance | 11 | 65032183 | 65032183 | Human | | name |
| 597741032 | CV3607250 | single nucleotide variant | NM_013306.5(SNX15):c.223G>A (p.Glu75Lys) | not specified [RCV004864778] | uncertain significance | 11 | 65032518 | 65032518 | Human | | name |
| 597741088 | CV3607281 | single nucleotide variant | NM_014758.3(SNX19):c.256G>A (p.Ala86Thr) | not specified [RCV004864790] | uncertain significance | 11 | 130915684 | 130915684 | Human | | name |
| 597892098 | CV3813407 | single nucleotide variant | NM_153816.6(SNX14):c.2250T>C (p.Thr750=) | not provided [RCV005151407] | likely benign | 6 | 85517774 | 85517774 | Human | | name |
| 597963504 | CV3837671 | single nucleotide variant | NM_153816.6(SNX14):c.1992A>G (p.Leu664=) | not provided [RCV005193653] | likely benign | 6 | 85528265 | 85528265 | Human | | name |
| 597954222 | CV3844371 | single nucleotide variant | NM_153816.6(SNX14):c.2094A>G (p.Pro698=) | not provided [RCV005191044] | likely benign | 6 | 85526139 | 85526139 | Human | | name |
| 598171848 | CV3911658 | single nucleotide variant | NM_015132.5(SNX13):c.259A>G (p.Thr87Ala) | not specified [RCV005284893] | uncertain significance | 7 | 17891605 | 17891605 | Human | | name |
| 598171835 | CV3911661 | single nucleotide variant | NM_153816.6(SNX14):c.193T>C (p.Phe65Leu) | Inborn genetic diseases [RCV005284896] | uncertain significance | 6 | 85574326 | 85574326 | Human | 1 | name |
| 598171830 | CV3911662 | single nucleotide variant | NM_153816.6(SNX14):c.194T>A (p.Phe65Tyr) | Inborn genetic diseases [RCV005284897] | uncertain significance | 6 | 85574325 | 85574325 | Human | 1 | name |
| 598171821 | CV3911664 | single nucleotide variant | NM_153816.6(SNX14):c.254A>G (p.Lys85Arg) | Inborn genetic diseases [RCV005284899] | uncertain significance | 6 | 85574265 | 85574265 | Human | 1 | name |
| 598171813 | CV3911666 | single nucleotide variant | NM_153816.6(SNX14):c.216T>G (p.Asp72Glu) | Inborn genetic diseases [RCV005284901] | uncertain significance | 6 | 85574303 | 85574303 | Human | 1 | name |
| 598171802 | CV3911668 | single nucleotide variant | NM_013306.5(SNX15):c.242G>A (p.Arg81Gln) | not specified [RCV005284903] | uncertain significance | 11 | 65032537 | 65032537 | Human | | name |
| 598171634 | CV3911670 | single nucleotide variant | NM_013306.5(SNX15):c.215G>A (p.Arg72His) | not specified [RCV005284905] | uncertain significance | 11 | 65032510 | 65032510 | Human | | name |
| 598171638 | CV3911671 | single nucleotide variant | NM_013306.5(SNX15):c.167G>A (p.Arg56His) | not specified [RCV005284906] | uncertain significance | 11 | 65032462 | 65032462 | Human | | name |
| 598171653 | CV3911674 | single nucleotide variant | NM_013306.5(SNX15):c.238C>T (p.Pro80Ser) | not specified [RCV005284909] | uncertain significance | 11 | 65032533 | 65032533 | Human | | name |
| 598171686 | CV3911680 | single nucleotide variant | NM_014748.4(SNX17):c.273G>T (p.Leu91Phe) | not specified [RCV005284915] | uncertain significance | 2 | 27373263 | 27373263 | Human | | name |
| 598171940 | CV3911702 | single nucleotide variant | NM_014758.3(SNX19):c.268C>T (p.Pro90Ser) | not specified [RCV005284937] | uncertain significance | 11 | 130915672 | 130915672 | Human | | name |
| 13474028 | CV444118 | single nucleotide variant | NM_013322.3(SNX10):c.162T>A (p.Tyr54Ter) | not provided [RCV000519534] | pathogenic | 7 | 26364585 | 26364585 | Human | | name |
| 8570715 | CV48564 | single nucleotide variant | NM_013322.3(SNX10):c.152G>A (p.Arg51Gln) | Autosomal recessive osteopetrosis 8 [RCV000033149]|not provided [RCV002514140] | pathogenic | 7 | 26364575 | 26364575 | Human | 1 | name |
| 14695742 | CV622997 | single nucleotide variant | NM_013322.3(SNX10):c.284G>A (p.Arg95His) | Autosomal recessive osteopetrosis 8 [RCV003141769]|Infantile osteopetrosis [RCV000786018]|not provided [RCV003558590] | likely pathogenic|uncertain significance | 7 | 26365118 | 26365118 | Human | 2 | name |
| 15171188 | CV710632 | single nucleotide variant | NM_153816.6(SNX14):c.2412T>G (p.Val804=) | not provided [RCV000972149] | likely benign | 6 | 85514215 | 85514215 | Human | | name |
| 15178905 | CV722163 | single nucleotide variant | NM_153816.6(SNX14):c.2532G>A (p.Leu844=) | not provided [RCV000885169] | benign|likely benign | 6 | 85514095 | 85514095 | Human | | name |
| 15180106 | CV722166 | single nucleotide variant | NM_153816.6(SNX14):c.264G>T (p.Gln88His) | not provided [RCV000885446] | benign | 6 | 85572372 | 85572372 | Human | | name |
| 15172351 | CV722440 | single nucleotide variant | NM_015132.5(SNX13):c.1254A>G (p.Glu418=) | not provided [RCV000883824] | benign | 7 | 17839912 | 17839912 | Human | | name |
| 15115328 | CV735805 | single nucleotide variant | NM_153816.6(SNX14):c.1009T>C (p.Leu337=) | not provided [RCV000895005] | benign | 6 | 85547211 | 85547211 | Human | | name |
| 15112719 | CV783911 | single nucleotide variant | NM_014758.3(SNX19):c.2523C>T (p.Thr841=) | not provided [RCV000977881] | likely benign | 11 | 130903305 | 130903305 | Human | | name |
| 21068732 | CV788807 | single nucleotide variant | NM_153816.6(SNX14):c.1809A>G (p.Ala603=) | Autosomal recessive spinocerebellar ataxia 20 [RCV000984899]|not provided [RCV002290495] | uncertain significance | 6 | 85533600 | 85533600 | Human | 1 | name |
| 21072217 | CV792770 | single nucleotide variant | NM_013322.3(SNX10):c.151C>T (p.Arg51Ter) | Autosomal recessive osteopetrosis 8 [RCV000991381]|not provided [RCV002550624] | pathogenic|likely pathogenic | 7 | 26364574 | 26364574 | Human | 1 | name |
| 126737322 | CV1016795 | single nucleotide variant | NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) | Autosomal recessive spinocerebellar ataxia 20 [RCV001328723] | uncertain significance | 6 | 85547397 | 85547397 | Human | 1 | name |
| 8643623 | CV102888 | single nucleotide variant | NM_014758.3(SNX19):c.842C>T (p.Ala281Val) | not provided [RCV000083249] | not provided | 11 | 130915098 | 130915098 | Human | | name |
| 126916136 | CV1044910 | single nucleotide variant | NM_013322.3(SNX10):c.498A>C (p.Glu166Asp) | not provided [RCV001371322] | uncertain significance | 7 | 26372007 | 26372007 | Human | | name |
| 150483713 | CV1210179 | single nucleotide variant | NM_153816.6(SNX14):c.932C>T (p.Pro311Leu) | not provided [RCV001590878] | uncertain significance | 6 | 85547378 | 85547378 | Human | | name |
| 150514283 | CV1213406 | single nucleotide variant | NM_153816.6(SNX14):c.907A>C (p.Ser303Arg) | not provided [RCV001598997] | benign | 6 | 85547511 | 85547511 | Human | | name |
| 150548367 | CV1316271 | single nucleotide variant | NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) | Autosomal recessive spinocerebellar ataxia 20 [RCV001788838]|Inborn genetic diseases [RCV004671439]|not provided [RCV001786072] | uncertain significance | 6 | 85558038 | 85558038 | Human | 2 | name |
| 151872345 | CV1339556 | single nucleotide variant | NM_013322.3(SNX10):c.593C>T (p.Pro198Leu) | Inborn genetic diseases [RCV002545461]|not provided [RCV002035839] | likely benign|uncertain significance | 7 | 26372559 | 26372559 | Human | 1 | name |
| 151853221 | CV1349225 | single nucleotide variant | NM_013322.3(SNX10):c.432A>T (p.Glu144Asp) | Inborn genetic diseases [RCV005278960]|not provided [RCV001923073] | uncertain significance | 7 | 26371941 | 26371941 | Human | 1 | name |
| 151710748 | CV1365669 | single nucleotide variant | NM_013322.3(SNX10):c.340G>A (p.Asp114Asn) | not provided [RCV001907946] | uncertain significance | 7 | 26371849 | 26371849 | Human | | name |
| 151817068 | CV1427345 | single nucleotide variant | NM_013322.3(SNX10):c.487G>T (p.Gly163Ter) | not provided [RCV001878850] | uncertain significance | 7 | 26371996 | 26371996 | Human | | name |
| 151841945 | CV1436011 | single nucleotide variant | NM_013322.3(SNX10):c.529T>C (p.Ser177Pro) | not provided [RCV001956864] | uncertain significance | 7 | 26372495 | 26372495 | Human | | name |
| 151725241 | CV1462072 | single nucleotide variant | NM_013322.3(SNX10):c.443A>C (p.Lys148Thr) | not provided [RCV001966504] | uncertain significance | 7 | 26371952 | 26371952 | Human | | name |
| 151788612 | CV1479323 | single nucleotide variant | NM_013322.3(SNX10):c.382G>C (p.Glu128Gln) | not provided [RCV002046880] | uncertain significance | 7 | 26371891 | 26371891 | Human | | name |
| 151790667 | CV1512999 | single nucleotide variant | NM_013322.3(SNX10):c.535G>T (p.Gly179Trp) | not provided [RCV001876484] | uncertain significance | 7 | 26372501 | 26372501 | Human | | name |
| 151870204 | CV1516886 | single nucleotide variant | NM_013322.3(SNX10):c.464G>A (p.Arg155His) | not provided [RCV001981198] | uncertain significance | 7 | 26371973 | 26371973 | Human | | name |
| 153347018 | CV1691913 | single nucleotide variant | NM_153816.6(SNX14):c.800C>A (p.Thr267Asn) | Inborn genetic diseases [RCV005281158]|not provided [RCV002273396] | uncertain significance | 6 | 85548368 | 85548368 | Human | 1 | name |
| 155723368 | CV1774344 | single nucleotide variant | NM_013322.3(SNX10):c.413C>T (p.Thr138Ile) | not provided [RCV002296787] | uncertain significance | 7 | 26371922 | 26371922 | Human | | name |
| 155674175 | CV1775718 | single nucleotide variant | NM_153816.6(SNX14):c.794C>T (p.Ser265Phe) | not provided [RCV002296111] | uncertain significance | 6 | 85548374 | 85548374 | Human | | name |
| 155686452 | CV1777638 | single nucleotide variant | NM_013322.3(SNX10):c.319C>A (p.Gln107Lys) | not provided [RCV002299020] | uncertain significance | 7 | 26371828 | 26371828 | Human | | name |
| 10044327 | CV188148 | single nucleotide variant | NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV000170507] | pathogenic | 6 | 85567567 | 85567567 | Human | 1 | name |
| 156317773 | CV1897588 | single nucleotide variant | NM_153816.6(SNX14):c.677A>G (p.Tyr226Cys) | Inborn genetic diseases [RCV002602275]|not provided [RCV002579051] | uncertain significance | 6 | 85549837 | 85549837 | Human | 1 | name |
| 155935105 | CV1916345 | single nucleotide variant | NM_013322.3(SNX10):c.395C>T (p.Ala132Val) | not provided [RCV002615246] | uncertain significance | 7 | 26371904 | 26371904 | Human | | name |
| 156435749 | CV1948756 | single nucleotide variant | NM_153816.6(SNX14):c.565A>G (p.Ile189Val) | not provided [RCV003113003] | uncertain significance | 6 | 85558045 | 85558045 | Human | | name |
| 156419670 | CV1974019 | single nucleotide variant | NM_013322.3(SNX10):c.334C>A (p.Leu112Ile) | not provided [RCV002612909] | uncertain significance | 7 | 26371843 | 26371843 | Human | | name |
| 156322746 | CV1978983 | single nucleotide variant | NM_013322.3(SNX10):c.506T>C (p.Ile169Thr) | not provided [RCV002630458] | uncertain significance | 7 | 26372015 | 26372015 | Human | | name |
| 156163278 | CV2019558 | single nucleotide variant | NM_013322.3(SNX10):c.479A>G (p.Asp160Gly) | not provided [RCV002710251] | uncertain significance | 7 | 26371988 | 26371988 | Human | | name |
| 155978114 | CV2028513 | single nucleotide variant | NM_153816.6(SNX14):c.520G>A (p.Ala174Thr) | not provided [RCV002755197] | uncertain significance | 6 | 85565361 | 85565361 | Human | | name |
| 156029659 | CV2036810 | single nucleotide variant | NM_153816.6(SNX14):c.715G>C (p.Asp239His) | not provided [RCV002781058] | uncertain significance | 6 | 85549799 | 85549799 | Human | | name |
| 156120165 | CV2115914 | single nucleotide variant | NM_153816.6(SNX14):c.335A>C (p.His112Pro) | not provided [RCV002927782] | uncertain significance | 6 | 85572301 | 85572301 | Human | | name |
| 156265502 | CV2134957 | single nucleotide variant | NM_153816.6(SNX14):c.328A>G (p.Lys110Glu) | Autosomal recessive spinocerebellar ataxia 20 [RCV005045133]|Inborn genetic diseases [RCV002988626]|not provided [RCV002988627] | uncertain significance | 6 | 85572308 | 85572308 | Human | 2 | name |
| 156044548 | CV2143630 | single nucleotide variant | NM_153816.6(SNX14):c.694G>A (p.Val232Ile) | Inborn genetic diseases [RCV004068390]|not provided [RCV002999659] | uncertain significance | 6 | 85549820 | 85549820 | Human | 1 | name |
| 156246900 | CV2145537 | single nucleotide variant | NM_153816.6(SNX14):c.838C>T (p.Leu280Phe) | not provided [RCV003008302] | uncertain significance | 6 | 85548330 | 85548330 | Human | | name |
| 155952654 | CV2161388 | single nucleotide variant | NM_153816.6(SNX14):c.571A>G (p.Thr191Ala) | not provided [RCV003032521] | uncertain significance | 6 | 85558039 | 85558039 | Human | | name |
| 156249894 | CV2169020 | single nucleotide variant | NM_153816.6(SNX14):c.695T>C (p.Val232Ala) | not provided [RCV003026302] | uncertain significance | 6 | 85549819 | 85549819 | Human | | name |
| 156019019 | CV2173999 | single nucleotide variant | NM_013322.3(SNX10):c.458A>G (p.Asn153Ser) | not provided [RCV003035632] | uncertain significance | 7 | 26371967 | 26371967 | Human | | name |
| 156118854 | CV2174757 | single nucleotide variant | NM_013322.3(SNX10):c.301T>G (p.Phe101Val) | not provided [RCV003055388] | uncertain significance | 7 | 26365135 | 26365135 | Human | | name |
| 156139952 | CV2191719 | single nucleotide variant | NM_153816.6(SNX14):c.395A>G (p.Lys132Arg) | not provided [RCV003056144] | uncertain significance | 6 | 85572159 | 85572159 | Human | | name |
| 155919479 | CV2202627 | single nucleotide variant | NM_015132.5(SNX13):c.523G>A (p.Ala175Thr) | not specified [RCV004082883] | uncertain significance | 7 | 17875708 | 17875708 | Human | | name |
| 156322694 | CV2205211 | single nucleotide variant | NM_013323.3(SNX11):c.685C>T (p.Pro229Ser) | not specified [RCV004079843] | uncertain significance | 17 | 48121380 | 48121380 | Human | | name |
| 156042015 | CV2215729 | single nucleotide variant | NM_152836.3(SNX16):c.631C>G (p.Leu211Val) | not specified [RCV004095339] | uncertain significance | 8 | 81815375 | 81815375 | Human | | name |
| 156180234 | CV2225879 | single nucleotide variant | NM_013306.5(SNX15):c.646G>T (p.Asp216Tyr) | not specified [RCV004103271] | uncertain significance | 11 | 65035645 | 65035645 | Human | | name |
| 156385945 | CV2228075 | single nucleotide variant | NM_153816.6(SNX14):c.845C>T (p.Ser282Phe) | Inborn genetic diseases [RCV002723554] | uncertain significance | 6 | 85548323 | 85548323 | Human | 1 | name |
| 156282912 | CV2230851 | single nucleotide variant | NM_014748.4(SNX17):c.949C>T (p.Arg317Cys) | not specified [RCV004092332] | uncertain significance | 2 | 27375680 | 27375680 | Human | | name |
| 156238640 | CV2235822 | single nucleotide variant | NM_152836.3(SNX16):c.527A>G (p.Tyr176Cys) | not specified [RCV004111942] | uncertain significance | 8 | 81823876 | 81823876 | Human | | name |
| 156200484 | CV2237709 | single nucleotide variant | NM_015132.5(SNX13):c.653A>G (p.Lys218Arg) | not specified [RCV004100500] | uncertain significance | 7 | 17875491 | 17875491 | Human | | name |
| 156236454 | CV2239016 | single nucleotide variant | NM_013346.4(SNX12):c.419G>A (p.Arg140His) | not specified [RCV004109898] | uncertain significance | X | 71061086 | 71061086 | Human | | name |
| 156155427 | CV2242505 | single nucleotide variant | NM_013323.3(SNX11):c.758G>A (p.Gly253Glu) | not specified [RCV004111491] | uncertain significance | 17 | 48121453 | 48121453 | Human | | name |
| 156242503 | CV2246233 | single nucleotide variant | NM_152836.3(SNX16):c.941C>G (p.Ala314Gly) | not specified [RCV004107692] | uncertain significance | 8 | 81801591 | 81801591 | Human | | name |
| 155962878 | CV2254476 | single nucleotide variant | NM_013322.3(SNX10):c.602C>T (p.Ser201Phe) | Inborn genetic diseases [RCV002817004] | uncertain significance | 7 | 26372568 | 26372568 | Human | 1 | name |
| 156302816 | CV2258738 | single nucleotide variant | NM_153816.6(SNX14):c.921A>C (p.Lys307Asn) | Inborn genetic diseases [RCV002808258] | uncertain significance | 6 | 85547389 | 85547389 | Human | 1 | name |
| 155966911 | CV2261104 | single nucleotide variant | NM_153816.6(SNX14):c.656A>G (p.Gln219Arg) | Inborn genetic diseases [RCV002817356] | uncertain significance | 6 | 85549858 | 85549858 | Human | 1 | name |
| 156367931 | CV2266902 | single nucleotide variant | NM_014748.4(SNX17):c.529C>T (p.Arg177Trp) | not specified [RCV004131565] | uncertain significance | 2 | 27374351 | 27374351 | Human | | name |
| 155982777 | CV2273005 | single nucleotide variant | NM_013306.5(SNX15):c.983G>T (p.Arg328Leu) | not specified [RCV004137663] | uncertain significance | 11 | 65039746 | 65039746 | Human | | name |
| 155907350 | CV2276355 | single nucleotide variant | NM_153816.6(SNX14):c.913C>T (p.Pro305Ser) | Inborn genetic diseases [RCV002837433] | uncertain significance | 6 | 85547397 | 85547397 | Human | 1 | name |
| 156248747 | CV2277024 | single nucleotide variant | NM_013306.5(SNX15):c.430C>T (p.Pro144Ser) | not specified [RCV004140344] | uncertain significance | 11 | 65035116 | 65035116 | Human | | name |
| 156264644 | CV2282676 | single nucleotide variant | NM_013323.3(SNX11):c.379C>A (p.Gln127Lys) | not specified [RCV004135224] | uncertain significance | 17 | 48119026 | 48119026 | Human | | name |
| 156123928 | CV2285718 | single nucleotide variant | NM_014748.4(SNX17):c.644T>C (p.Met215Thr) | not specified [RCV004141868] | uncertain significance | 2 | 27374721 | 27374721 | Human | | name |
| 156169403 | CV2296610 | single nucleotide variant | NM_014748.4(SNX17):c.817C>T (p.Arg273Cys) | not specified [RCV004154671] | uncertain significance | 2 | 27375548 | 27375548 | Human | | name |
| 156208386 | CV2298121 | single nucleotide variant | NM_013306.5(SNX15):c.314G>A (p.Arg105His) | not specified [RCV004159787] | uncertain significance | 11 | 65034904 | 65034904 | Human | | name |
| 156202006 | CV2300596 | single nucleotide variant | NM_014748.4(SNX17):c.530G>A (p.Arg177Gln) | not specified [RCV004155556] | uncertain significance | 2 | 27374352 | 27374352 | Human | | name |
| 155902170 | CV2301396 | single nucleotide variant | NM_152836.3(SNX16):c.967A>G (p.Ser323Gly) | not specified [RCV004162334] | uncertain significance | 8 | 81801565 | 81801565 | Human | | name |
| 156098071 | CV2306431 | single nucleotide variant | NM_013323.3(SNX11):c.301C>G (p.Gln101Glu) | not specified [RCV004157058] | uncertain significance | 17 | 48118774 | 48118774 | Human | | name |
| 156167389 | CV2315305 | single nucleotide variant | NM_152836.3(SNX16):c.940G>C (p.Ala314Pro) | not specified [RCV004167290] | uncertain significance | 8 | 81801592 | 81801592 | Human | | name |
| 156073710 | CV2321600 | single nucleotide variant | NM_152836.3(SNX16):c.598G>A (p.Asp200Asn) | not specified [RCV004179624] | uncertain significance | 8 | 81823805 | 81823805 | Human | | name |
| 156084082 | CV2343178 | single nucleotide variant | NM_014758.3(SNX19):c.772G>T (p.Asp258Tyr) | not specified [RCV004194809] | uncertain significance | 11 | 130915168 | 130915168 | Human | | name |
| 156066580 | CV2346838 | single nucleotide variant | NM_013306.5(SNX15):c.680G>C (p.Ser227Thr) | not specified [RCV004199838] | uncertain significance | 11 | 65038587 | 65038587 | Human | | name |
| 156246324 | CV2347305 | single nucleotide variant | NM_013306.5(SNX15):c.530C>T (p.Pro177Leu) | not specified [RCV004206784] | uncertain significance | 11 | 65035529 | 65035529 | Human | | name |
| 156216213 | CV2347960 | single nucleotide variant | NM_013323.3(SNX11):c.748G>C (p.Ala250Pro) | not specified [RCV004197649] | uncertain significance | 17 | 48121443 | 48121443 | Human | | name |
| 156283886 | CV2348976 | single nucleotide variant | NM_013306.5(SNX15):c.706A>G (p.Thr236Ala) | not specified [RCV004203407] | likely benign | 11 | 65038613 | 65038613 | Human | | name |
| 155909422 | CV2359727 | single nucleotide variant | NM_013306.5(SNX15):c.689A>C (p.His230Pro) | not specified [RCV004210544] | uncertain significance | 11 | 65038596 | 65038596 | Human | | name |
| 155936502 | CV2379837 | single nucleotide variant | NM_013323.3(SNX11):c.769G>A (p.Val257Met) | not specified [RCV004219948] | uncertain significance | 17 | 48121464 | 48121464 | Human | | name |
| 156113024 | CV2387977 | single nucleotide variant | NM_015132.5(SNX13):c.882T>G (p.Ile294Met) | not specified [RCV004236512] | uncertain significance | 7 | 17850920 | 17850920 | Human | | name |
| 156054726 | CV2388627 | single nucleotide variant | NM_014748.4(SNX17):c.563C>G (p.Ser188Cys) | not specified [RCV004239508] | uncertain significance | 2 | 27374385 | 27374385 | Human | | name |
| 243056007 | CV2413290 | deletion | NM_153816.6(SNX14):c.44_45del (p.Arg15fs) | Autosomal recessive spinocerebellar ataxia 20 [RCV003132604] | likely pathogenic | 6 | 85593674 | 85593675 | Human | 1 | name |
| 329357886 | CV2427871 | single nucleotide variant | NM_014758.3(SNX19):c.712G>C (p.Val238Leu) | not specified [RCV004252643] | uncertain significance | 11 | 130915228 | 130915228 | Human | | name |
| 329360513 | CV2443590 | single nucleotide variant | NM_152836.3(SNX16):c.653G>A (p.Gly218Asp) | not specified [RCV004262414] | uncertain significance | 8 | 81815353 | 81815353 | Human | | name |
| 329351957 | CV2455527 | single nucleotide variant | NM_015132.5(SNX13):c.766C>G (p.Arg256Gly) | not specified [RCV004276789] | uncertain significance | 7 | 17868478 | 17868478 | Human | | name |
| 329401982 | CV2458029 | single nucleotide variant | NM_013323.3(SNX11):c.327G>C (p.Lys109Asn) | not specified [RCV004271596] | uncertain significance | 17 | 48118974 | 48118974 | Human | | name |
| 329394407 | CV2460747 | single nucleotide variant | NM_013322.3(SNX10):c.566C>T (p.Ser189Leu) | Inborn genetic diseases [RCV003193660] | uncertain significance | 7 | 26372532 | 26372532 | Human | 1 | name |
| 329374256 | CV2463470 | single nucleotide variant | NM_014748.4(SNX17):c.358G>A (p.Glu120Lys) | not specified [RCV004277299] | uncertain significance | 2 | 27373897 | 27373897 | Human | | name |
| 329361756 | CV2468275 | single nucleotide variant | NM_152836.3(SNX16):c.948T>A (p.Asn316Lys) | not specified [RCV004275837] | uncertain significance | 8 | 81801584 | 81801584 | Human | | name |
| 329394354 | CV2469828 | single nucleotide variant | NM_013306.5(SNX15):c.866C>T (p.Ala289Val) | not specified [RCV004285318] | uncertain significance | 11 | 65038773 | 65038773 | Human | | name |
| 329954047 | CV2670709 | single nucleotide variant | NM_153816.6(SNX14):c.810A>G (p.Ile270Met) | not provided [RCV003235977] | uncertain significance | 6 | 85548358 | 85548358 | Human | | name |
| 401732298 | CV2678060 | single nucleotide variant | NM_014748.4(SNX17):c.875C>T (p.Ala292Val) | not specified [RCV004296581] | uncertain significance | 2 | 27375606 | 27375606 | Human | | name |
| 401756512 | CV2687186 | single nucleotide variant | NM_152836.3(SNX16):c.338T>C (p.Leu113Pro) | not specified [RCV004298135] | uncertain significance | 8 | 81839649 | 81839649 | Human | | name |
| 401782612 | CV2697120 | single nucleotide variant | NM_152836.3(SNX16):c.805G>C (p.Glu269Gln) | not specified [RCV004302116] | uncertain significance | 8 | 81803105 | 81803105 | Human | | name |
| 401782736 | CV2697188 | single nucleotide variant | NM_152836.3(SNX16):c.701A>G (p.Glu234Gly) | not specified [RCV004303962] | uncertain significance | 8 | 81803209 | 81803209 | Human | | name |
| 401779035 | CV2702057 | single nucleotide variant | NM_014758.3(SNX19):c.548T>G (p.Val183Gly) | not specified [RCV004320635] | uncertain significance | 11 | 130915392 | 130915392 | Human | | name |
| 401761304 | CV2706294 | single nucleotide variant | NM_014748.4(SNX17):c.794C>T (p.Thr265Met) | not specified [RCV004314955] | uncertain significance | 2 | 27375525 | 27375525 | Human | | name |
| 401749392 | CV2706714 | single nucleotide variant | NM_013323.3(SNX11):c.644T>C (p.Val215Ala) | not specified [RCV004319279] | likely benign | 17 | 48121339 | 48121339 | Human | | name |
| 401763229 | CV2707598 | single nucleotide variant | NM_015132.5(SNX13):c.839T>C (p.Ile280Thr) | not specified [RCV004306539] | uncertain significance | 7 | 17850963 | 17850963 | Human | | name |
| 401745450 | CV2709069 | single nucleotide variant | NM_153816.6(SNX14):c.973C>A (p.Pro325Thr) | Inborn genetic diseases [RCV003262050] | uncertain significance | 6 | 85547337 | 85547337 | Human | 1 | name |
| 401733778 | CV2713213 | single nucleotide variant | NM_013323.3(SNX11):c.319C>T (p.Leu107Phe) | not specified [RCV004316747] | uncertain significance | 17 | 48118792 | 48118792 | Human | | name |
| 401749115 | CV2713755 | single nucleotide variant | NM_152836.3(SNX16):c.901C>G (p.Leu301Val) | not specified [RCV004321102] | uncertain significance | 8 | 81802417 | 81802417 | Human | | name |
| 401761812 | CV2713906 | single nucleotide variant | NM_153816.6(SNX14):c.488T>C (p.Val163Ala) | Inborn genetic diseases [RCV003257687] | uncertain significance | 6 | 85565393 | 85565393 | Human | 1 | name |
| 401770036 | CV2719005 | single nucleotide variant | NM_015132.5(SNX13):c.895A>G (p.Asn299Asp) | not specified [RCV004322592] | uncertain significance | 7 | 17850907 | 17850907 | Human | | name |
| 401761829 | CV2726923 | single nucleotide variant | NM_152836.3(SNX16):c.304A>G (p.Asn102Asp) | not specified [RCV004323207] | uncertain significance | 8 | 81839683 | 81839683 | Human | | name |
| 401750451 | CV2737933 | deletion | NM_153816.6(SNX14):c.1878del (p.Lys626fs) | Autosomal recessive spinocerebellar ataxia 20 [RCV003315105] | pathogenic | 6 | 85530208 | 85530208 | Human | 1 | name |
| 401861749 | CV2756477 | single nucleotide variant | NM_013306.5(SNX15):c.868G>A (p.Ala290Thr) | not specified [RCV004343008] | uncertain significance | 11 | 65038775 | 65038775 | Human | | name |
| 401883567 | CV2757991 | single nucleotide variant | NM_015132.5(SNX13):c.547G>A (p.Asp183Asn) | not specified [RCV004339164] | uncertain significance | 7 | 17875684 | 17875684 | Human | | name |
| 401864342 | CV2760791 | single nucleotide variant | NM_013306.5(SNX15):c.464G>A (p.Arg155Gln) | not specified [RCV004336433] | uncertain significance | 11 | 65035150 | 65035150 | Human | | name |
| 401868793 | CV2767344 | single nucleotide variant | NM_015132.5(SNX13):c.775C>A (p.Leu259Ile) | not specified [RCV004349506] | uncertain significance | 7 | 17868469 | 17868469 | Human | | name |
| 401893941 | CV2773583 | single nucleotide variant | NM_015132.5(SNX13):c.778C>T (p.Leu260Phe) | not specified [RCV004355989] | uncertain significance | 7 | 17868466 | 17868466 | Human | | name |
| 401873413 | CV2776576 | single nucleotide variant | NM_013323.3(SNX11):c.802T>G (p.Leu268Val) | not specified [RCV004355671] | uncertain significance | 17 | 48121497 | 48121497 | Human | | name |
| 401896065 | CV2777389 | single nucleotide variant | NM_015132.5(SNX13):c.740G>A (p.Arg247Gln) | not specified [RCV004354392] | uncertain significance | 7 | 17873541 | 17873541 | Human | | name |
| 401883179 | CV2785567 | single nucleotide variant | NM_152836.3(SNX16):c.968G>A (p.Ser323Asn) | not specified [RCV004363082] | uncertain significance | 8 | 81801564 | 81801564 | Human | | name |
| 401864833 | CV2791380 | single nucleotide variant | NM_014758.3(SNX19):c.721C>G (p.Leu241Val) | not specified [RCV004358782] | uncertain significance | 11 | 130915219 | 130915219 | Human | | name |
| 405118155 | CV2949733 | single nucleotide variant | NM_013322.3(SNX10):c.338C>G (p.Ser113Ter) | not provided [RCV003667148] | pathogenic | 7 | 26371847 | 26371847 | Human | | name |
| 405250144 | CV2997273 | single nucleotide variant | NM_013322.3(SNX10):c.411G>C (p.Gln137His) | not provided [RCV003721541] | uncertain significance | 7 | 26371920 | 26371920 | Human | | name |
| 405236707 | CV3036035 | single nucleotide variant | NM_013322.3(SNX10):c.502G>T (p.Asp168Tyr) | not provided [RCV003712482] | uncertain significance | 7 | 26372011 | 26372011 | Human | | name |
| 405226115 | CV3142473 | single nucleotide variant | NM_153816.6(SNX14):c.862G>A (p.Asp288Asn) | not provided [RCV003848012] | uncertain significance | 6 | 85548306 | 85548306 | Human | | name |
| 405732336 | CV3322538 | single nucleotide variant | NM_013346.4(SNX12):c.452T>C (p.Ile151Thr) | not specified [RCV004464500] | uncertain significance | X | 71061053 | 71061053 | Human | | name |
| 405732432 | CV3322550 | single nucleotide variant | NM_015132.5(SNX13):c.508C>G (p.Arg170Gly) | not specified [RCV004464512] | uncertain significance | 7 | 17875723 | 17875723 | Human | | name |
| 405732442 | CV3322551 | single nucleotide variant | NM_015132.5(SNX13):c.548A>G (p.Asp183Gly) | not specified [RCV004464513] | uncertain significance | 7 | 17875683 | 17875683 | Human | | name |
| 405732491 | CV3322558 | single nucleotide variant | NM_153816.6(SNX14):c.799A>G (p.Thr267Ala) | Inborn genetic diseases [RCV004464520] | uncertain significance | 6 | 85548369 | 85548369 | Human | 1 | name |
| 405732533 | CV3322563 | single nucleotide variant | NM_013306.5(SNX15):c.332C>G (p.Pro111Arg) | not specified [RCV004464525] | uncertain significance | 11 | 65034922 | 65034922 | Human | | name |
| 405732540 | CV3322564 | single nucleotide variant | NM_013306.5(SNX15):c.430C>A (p.Pro144Thr) | not specified [RCV004464526] | uncertain significance | 11 | 65035116 | 65035116 | Human | | name |
| 405732547 | CV3322565 | single nucleotide variant | NM_013306.5(SNX15):c.452C>G (p.Pro151Arg) | not specified [RCV004464527] | uncertain significance | 11 | 65035138 | 65035138 | Human | | name |
| 405732555 | CV3322566 | single nucleotide variant | NM_013306.5(SNX15):c.800C>T (p.Ala267Val) | not specified [RCV004464528] | uncertain significance | 11 | 65038707 | 65038707 | Human | | name |
| 405732592 | CV3322571 | single nucleotide variant | NM_152836.3(SNX16):c.544G>A (p.Glu182Lys) | not specified [RCV004464533] | uncertain significance | 8 | 81823859 | 81823859 | Human | | name |
| 405732601 | CV3322572 | single nucleotide variant | NM_152836.3(SNX16):c.734T>C (p.Leu245Pro) | not specified [RCV004464534] | uncertain significance | 8 | 81803176 | 81803176 | Human | | name |
| 405732608 | CV3322573 | single nucleotide variant | NM_152836.3(SNX16):c.952C>A (p.Pro318Thr) | not specified [RCV004464535] | uncertain significance | 8 | 81801580 | 81801580 | Human | | name |
| 405732683 | CV3322582 | single nucleotide variant | NM_014748.4(SNX17):c.500A>G (p.Glu167Gly) | not specified [RCV004464544] | uncertain significance | 2 | 27374152 | 27374152 | Human | | name |
| 405732706 | CV3322584 | single nucleotide variant | NM_014748.4(SNX17):c.950G>A (p.Arg317His) | not specified [RCV004464546] | uncertain significance | 2 | 27375681 | 27375681 | Human | | name |
| 405732925 | CV3322612 | single nucleotide variant | NM_014758.3(SNX19):c.311G>A (p.Arg104His) | not specified [RCV004464574] | uncertain significance | 11 | 130915629 | 130915629 | Human | | name |
| 405732933 | CV3322613 | single nucleotide variant | NM_014758.3(SNX19):c.347C>G (p.Ser116Cys) | not specified [RCV004464575] | uncertain significance | 11 | 130915593 | 130915593 | Human | | name |
| 405732942 | CV3322614 | single nucleotide variant | NM_014758.3(SNX19):c.447G>A (p.Met149Ile) | not specified [RCV004464576] | uncertain significance | 11 | 130915493 | 130915493 | Human | | name |
| 405732956 | CV3322616 | single nucleotide variant | NM_014758.3(SNX19):c.567G>T (p.Trp189Cys) | not specified [RCV004464578] | uncertain significance | 11 | 130915373 | 130915373 | Human | | name |
| 405732964 | CV3322617 | single nucleotide variant | NM_014758.3(SNX19):c.745C>T (p.Pro249Ser) | not specified [RCV004464579] | uncertain significance | 11 | 130915195 | 130915195 | Human | | name |
| 405732971 | CV3322618 | single nucleotide variant | NM_014758.3(SNX19):c.905A>G (p.Glu302Gly) | not specified [RCV004464580] | uncertain significance | 11 | 130915035 | 130915035 | Human | | name |
| 405732318 | CV3326374 | single nucleotide variant | NM_013323.3(SNX11):c.355G>C (p.Asp119His) | not specified [RCV004464498] | uncertain significance | 17 | 48119002 | 48119002 | Human | | name |
| 405732326 | CV3326375 | single nucleotide variant | NM_013323.3(SNX11):c.584C>T (p.Pro195Leu) | not specified [RCV004464499] | uncertain significance | 17 | 48121279 | 48121279 | Human | | name |
| 407503817 | CV3484779 | single nucleotide variant | NM_015132.5(SNX13):c.541G>A (p.Glu181Lys) | not specified [RCV004670375] | uncertain significance | 7 | 17875690 | 17875690 | Human | | name |
| 407525304 | CV3484793 | single nucleotide variant | NM_153816.6(SNX14):c.511C>T (p.Arg171Cys) | Inborn genetic diseases [RCV004679126] | uncertain significance | 6 | 85565370 | 85565370 | Human | 1 | name |
| 407525305 | CV3484794 | single nucleotide variant | NM_013306.5(SNX15):c.983G>A (p.Arg328Gln) | not specified [RCV004679127] | uncertain significance | 11 | 65039746 | 65039746 | Human | | name |
| 407503941 | CV3484796 | single nucleotide variant | NM_013306.5(SNX15):c.985G>A (p.Ala329Thr) | not specified [RCV004670387] | uncertain significance | 11 | 65039748 | 65039748 | Human | | name |
| 407503944 | CV3484797 | single nucleotide variant | NM_013306.5(SNX15):c.472C>G (p.Gln158Glu) | not specified [RCV004670388] | uncertain significance | 11 | 65035158 | 65035158 | Human | | name |
| 408388953 | CV3529156 | single nucleotide variant | NM_013322.3(SNX10):c.406G>T (p.Gly136Trp) | not provided [RCV004773978] | uncertain significance | 7 | 26371915 | 26371915 | Human | | name |
| 596925136 | CV3536930 | single nucleotide variant | NM_153816.6(SNX14):c.739C>G (p.Leu247Val) | Autosomal recessive spinocerebellar ataxia 20 [RCV004785924] | uncertain significance | 6 | 85549775 | 85549775 | Human | 1 | name |
| 597730345 | CV3607226 | single nucleotide variant | NM_013322.3(SNX10):c.320A>G (p.Gln107Arg) | Inborn genetic diseases [RCV004963896] | uncertain significance | 7 | 26371829 | 26371829 | Human | 1 | name |
| 597741013 | CV3607228 | single nucleotide variant | NM_013323.3(SNX11):c.616G>C (p.Val206Leu) | not specified [RCV004864774] | uncertain significance | 17 | 48121311 | 48121311 | Human | | name |
| 597745206 | CV3607229 | single nucleotide variant | NM_013323.3(SNX11):c.458G>A (p.Arg153Gln) | not specified [RCV004865625] | uncertain significance | 17 | 48119105 | 48119105 | Human | | name |
| 597745233 | CV3607236 | single nucleotide variant | NM_015132.5(SNX13):c.848C>T (p.Ser283Phe) | not specified [RCV004865630] | uncertain significance | 7 | 17850954 | 17850954 | Human | | name |
| 597741027 | CV3607239 | single nucleotide variant | NM_015132.5(SNX13):c.889A>T (p.Ser297Cys) | not specified [RCV004864777] | uncertain significance | 7 | 17850913 | 17850913 | Human | | name |
| 597730351 | CV3607243 | single nucleotide variant | NM_153816.6(SNX14):c.938C>T (p.Ser313Phe) | Inborn genetic diseases [RCV004963897] | uncertain significance | 6 | 85547372 | 85547372 | Human | 1 | name |
| 597730360 | CV3607244 | single nucleotide variant | NM_153816.6(SNX14):c.595A>G (p.Met199Val) | Inborn genetic diseases [RCV004963898] | uncertain significance | 6 | 85558015 | 85558015 | Human | 1 | name |
| 597745266 | CV3607245 | single nucleotide variant | NM_013306.5(SNX15):c.945G>C (p.Gln315His) | not specified [RCV004865636] | uncertain significance | 11 | 65039708 | 65039708 | Human | | name |
| 597745272 | CV3607246 | single nucleotide variant | NM_013306.5(SNX15):c.901G>A (p.Val301Ile) | not specified [RCV004865637] | likely benign | 11 | 65038808 | 65038808 | Human | | name |
| 597745277 | CV3607247 | single nucleotide variant | NM_013306.5(SNX15):c.826A>C (p.Ile276Leu) | not specified [RCV004865638] | uncertain significance | 11 | 65038733 | 65038733 | Human | | name |
| 597745282 | CV3607248 | single nucleotide variant | NM_013306.5(SNX15):c.484G>A (p.Ala162Thr) | not specified [RCV004865639] | uncertain significance | 11 | 65035170 | 65035170 | Human | | name |
| 597745292 | CV3607251 | single nucleotide variant | NM_152836.3(SNX16):c.569C>T (p.Ala190Val) | not specified [RCV004865641] | uncertain significance | 8 | 81823834 | 81823834 | Human | | name |
| 597745299 | CV3607253 | single nucleotide variant | NM_152836.3(SNX16):c.508C>T (p.Arg170Cys) | not specified [RCV004865642] | uncertain significance | 8 | 81823895 | 81823895 | Human | | name |
| 597745303 | CV3607254 | single nucleotide variant | NM_152836.3(SNX16):c.687C>G (p.Phe229Leu) | not specified [RCV004865643] | uncertain significance | 8 | 81803223 | 81803223 | Human | | name |
| 597745308 | CV3607255 | single nucleotide variant | NM_152836.3(SNX16):c.994A>G (p.Ile332Val) | not specified [RCV004865644] | uncertain significance | 8 | 81801538 | 81801538 | Human | | name |
| 597745313 | CV3607256 | single nucleotide variant | NM_014748.4(SNX17):c.346G>C (p.Glu116Gln) | not specified [RCV004865645] | uncertain significance | 2 | 27373885 | 27373885 | Human | | name |
| 597741042 | CV3607258 | single nucleotide variant | NM_014748.4(SNX17):c.626C>T (p.Ala209Val) | not specified [RCV004864780] | uncertain significance | 2 | 27374703 | 27374703 | Human | | name |
| 597745345 | CV3607270 | single nucleotide variant | NM_014758.3(SNX19):c.403A>C (p.Met135Leu) | not specified [RCV004865651] | uncertain significance | 11 | 130915537 | 130915537 | Human | | name |
| 597745350 | CV3607271 | single nucleotide variant | NM_014758.3(SNX19):c.979C>G (p.Pro327Ala) | not specified [RCV004865652] | uncertain significance | 11 | 130914961 | 130914961 | Human | | name |
| 597745355 | CV3607272 | single nucleotide variant | NM_014758.3(SNX19):c.448G>A (p.Asp150Asn) | not specified [RCV004865653] | uncertain significance | 11 | 130915492 | 130915492 | Human | | name |
| 597745387 | CV3607280 | single nucleotide variant | NM_014758.3(SNX19):c.757A>G (p.Arg253Gly) | not specified [RCV004865659] | uncertain significance | 11 | 130915183 | 130915183 | Human | | name |
| 597745392 | CV3607283 | single nucleotide variant | NM_014758.3(SNX19):c.512A>T (p.Gln171Leu) | not specified [RCV004865660] | uncertain significance | 11 | 130915428 | 130915428 | Human | | name |
| 597703252 | CV3719047 | single nucleotide variant | NM_013322.3(SNX10):c.398G>A (p.Cys133Tyr) | Autosomal recessive osteopetrosis 8 [RCV005033704] | uncertain significance | 7 | 26371907 | 26371907 | Human | 1 | name |
| 597833169 | CV3734908 | single nucleotide variant | NM_153816.6(SNX14):c.902A>G (p.Asp301Gly) | not provided [RCV005054641] | uncertain significance | 6 | 85547516 | 85547516 | Human | | name |
| 597960620 | CV3794704 | single nucleotide variant | NM_153816.6(SNX14):c.553G>T (p.Asp185Tyr) | not provided [RCV005138609] | uncertain significance | 6 | 85558057 | 85558057 | Human | | name |
| 597898363 | CV3854554 | single nucleotide variant | NM_013322.3(SNX10):c.303C>G (p.Phe101Leu) | not provided [RCV005201661] | uncertain significance | 7 | 26365137 | 26365137 | Human | | name |
| 12858960 | CV389131 | duplication | NM_153816.6(SNX14):c.1672dup (p.Thr558fs) | Abnormal brain morphology [RCV000454285] | likely pathogenic | 6 | 85533736 | 85533737 | Human | 1 | name |
| 598171877 | CV3911652 | single nucleotide variant | NM_013323.3(SNX11):c.722C>G (p.Thr241Ser) | not specified [RCV005284887] | uncertain significance | 17 | 48121417 | 48121417 | Human | | name |
| 598171873 | CV3911653 | single nucleotide variant | NM_013323.3(SNX11):c.311A>G (p.Gln104Arg) | not specified [RCV005284888] | uncertain significance | 17 | 48118784 | 48118784 | Human | | name |
| 598171868 | CV3911654 | single nucleotide variant | NM_013323.3(SNX11):c.679T>C (p.Ser227Pro) | not specified [RCV005284889] | uncertain significance | 17 | 48121374 | 48121374 | Human | | name |
| 598171863 | CV3911655 | single nucleotide variant | NM_013346.4(SNX12):c.431T>C (p.Met144Thr) | not specified [RCV005284890] | uncertain significance | X | 71061074 | 71061074 | Human | | name |
| 598171843 | CV3911659 | single nucleotide variant | NM_015132.5(SNX13):c.617A>G (p.Lys206Arg) | not specified [RCV005284894] | uncertain significance | 7 | 17875527 | 17875527 | Human | | name |
| 598171826 | CV3911663 | single nucleotide variant | NM_153816.6(SNX14):c.557T>C (p.Ile186Thr) | Inborn genetic diseases [RCV005284898] | uncertain significance | 6 | 85558053 | 85558053 | Human | 1 | name |
| 598171818 | CV3911665 | single nucleotide variant | NM_153816.6(SNX14):c.989C>T (p.Pro330Leu) | Inborn genetic diseases [RCV005284900] | uncertain significance | 6 | 85547321 | 85547321 | Human | 1 | name |
| 598171797 | CV3911669 | single nucleotide variant | NM_013306.5(SNX15):c.895G>A (p.Val299Met) | not specified [RCV005284904] | uncertain significance | 11 | 65038802 | 65038802 | Human | | name |
| 598171643 | CV3911672 | single nucleotide variant | NM_013306.5(SNX15):c.997C>G (p.Leu333Val) | not specified [RCV005284907] | uncertain significance | 11 | 65039760 | 65039760 | Human | | name |
| 598171648 | CV3911673 | single nucleotide variant | NM_013306.5(SNX15):c.455A>G (p.Asp152Gly) | not specified [RCV005284908] | uncertain significance | 11 | 65035141 | 65035141 | Human | | name |
| 598171659 | CV3911675 | single nucleotide variant | NM_152836.3(SNX16):c.586G>A (p.Val196Ile) | not specified [RCV005284910] | uncertain significance | 8 | 81823817 | 81823817 | Human | | name |
| 598171670 | CV3911677 | single nucleotide variant | NM_014748.4(SNX17):c.818G>A (p.Arg273His) | not specified [RCV005284912] | uncertain significance | 2 | 27375549 | 27375549 | Human | | name |
| 598171675 | CV3911678 | single nucleotide variant | NM_014748.4(SNX17):c.505G>A (p.Glu169Lys) | not specified [RCV005284913] | uncertain significance | 2 | 27374157 | 27374157 | Human | | name |
| 598171680 | CV3911679 | single nucleotide variant | NM_014748.4(SNX17):c.734G>A (p.Arg245Gln) | not specified [RCV005284914] | uncertain significance | 2 | 27375113 | 27375113 | Human | | name |
| 616937484 | CV4013476 | deletion | NM_153816.6(SNX14):c.1883del (p.Thr628fs) | Autosomal recessive spinocerebellar ataxia 20 [RCV005411039] | likely pathogenic | 6 | 85530203 | 85530203 | Human | 1 | name |
| 13486916 | CV444021 | single nucleotide variant | NM_153816.6(SNX14):c.919A>G (p.Lys307Glu) | not provided [RCV000523064] | uncertain significance | 6 | 85547391 | 85547391 | Human | | name |
| 13592699 | CV513288 | single nucleotide variant | NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV000625883] | pathogenic | 6 | 85572305 | 85572305 | Human | 1 | name |
| 14695713 | CV622885 | single nucleotide variant | NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV000785947] | likely pathogenic | 6 | 85572333 | 85572333 | Human | 1 | name |
| 15110385 | CV724315 | single nucleotide variant | NM_014758.3(SNX19):c.949A>G (p.Ser317Gly) | not provided [RCV000894051] | benign | 11 | 130914991 | 130914991 | Human | | name |
| 21068769 | CV788808 | deletion | NM_153816.6(SNX14):c.1725del (p.Phe575fs) | Autosomal recessive spinocerebellar ataxia 20 [RCV000984947] | likely pathogenic | 6 | 85533684 | 85533684 | Human | 1 | name |
| 8634285 | CV89505 | single nucleotide variant | NM_013306.4(SNX15):c.682C>T (p.Pro228Ser) | Malignant melanoma [RCV000069602] | not provided | 11 | 65038589 | 65038589 | Human | | name |
| 126760540 | CV1006991 | single nucleotide variant | NM_153816.6(SNX14):c.1358T>C (p.Val453Ala) | not provided [RCV001318370]|not specified [RCV003387994] | uncertain significance | 6 | 85543213 | 85543213 | Human | | name |
| 126737314 | CV1016793 | single nucleotide variant | NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) | Autosomal recessive spinocerebellar ataxia 20 [RCV001328722] | uncertain significance | 6 | 85508039 | 85508039 | Human | 1 | name |
| 126737311 | CV1016794 | single nucleotide variant | NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) | Autosomal recessive spinocerebellar ataxia 20 [RCV001328721]|not provided [RCV001597267] | likely benign|uncertain significance | 6 | 85514217 | 85514217 | Human | 1 | name |
| 126738373 | CV1020300 | single nucleotide variant | NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) | Autosomal recessive spinocerebellar ataxia 20 [RCV001335507]|not provided [RCV001751655] | uncertain significance | 6 | 85514232 | 85514232 | Human | 1 | name |
| 150555829 | CV1305316 | single nucleotide variant | NM_153816.6(SNX14):c.1075G>A (p.Ala359Thr) | not provided [RCV001773249] | uncertain significance | 6 | 85547145 | 85547145 | Human | | name |
| 151234658 | CV1320397 | single nucleotide variant | NM_153816.6(SNX14):c.1832G>C (p.Trp611Ser) | not provided [RCV001800021] | uncertain significance | 6 | 85530254 | 85530254 | Human | | name |
| 151353467 | CV1326604 | single nucleotide variant | NM_153816.6(SNX14):c.2524C>T (p.His842Tyr) | Inborn genetic diseases [RCV002542481]|not provided [RCV001816433] | uncertain significance | 6 | 85514103 | 85514103 | Human | 1 | name |
| 153347938 | CV1694987 | single nucleotide variant | NM_153816.6(SNX14):c.1690G>A (p.Ala564Thr) | not provided [RCV002278918] | uncertain significance | 6 | 85533719 | 85533719 | Human | | name |
| 155267595 | CV1704995 | single nucleotide variant | NM_153816.6(SNX14):c.1600G>C (p.Asp534His) | Inborn genetic diseases [RCV005281163]|not provided [RCV002285600] | uncertain significance | 6 | 85536800 | 85536800 | Human | 1 | name |
| 155674822 | CV1773147 | single nucleotide variant | NM_153816.6(SNX14):c.2280T>G (p.Asp760Glu) | not provided [RCV002296859] | uncertain significance | 6 | 85514618 | 85514618 | Human | | name |
| 10044323 | CV188143 | single nucleotide variant | NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV000170502] | pathogenic | 6 | 85513857 | 85513857 | Human | 1 | name |
| 10044824 | CV188147 | single nucleotide variant | NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV000170506]|Spinocerebellar atrophy [RCV004798794]|not provided [RCV002225490] | pathogenic | 6 | 85543737 | 85543737 | Human | 3 | name |
| 156340704 | CV1898760 | single nucleotide variant | NM_153816.6(SNX14):c.2176A>G (p.Met726Val) | not provided [RCV003090344] | uncertain significance | 6 | 85517848 | 85517848 | Human | | name |
| 156359080 | CV1910570 | single nucleotide variant | NM_153816.6(SNX14):c.1781T>C (p.Ile594Thr) | not provided [RCV002632546] | uncertain significance | 6 | 85533628 | 85533628 | Human | | name |
| 156206742 | CV1913238 | single nucleotide variant | NM_153816.6(SNX14):c.1898C>T (p.Ala633Val) | Inborn genetic diseases [RCV005266561]|not provided [RCV002595912] | uncertain significance | 6 | 85528359 | 85528359 | Human | 1 | name |
| 156405557 | CV1919394 | single nucleotide variant | NM_153816.6(SNX14):c.2636T>C (p.Met879Thr) | not provided [RCV002585674] | uncertain significance | 6 | 85513817 | 85513817 | Human | | name |
| 156085577 | CV1956574 | single nucleotide variant | NM_153816.6(SNX14):c.2558A>C (p.Asp853Ala) | Inborn genetic diseases [RCV002570049]|not provided [RCV002573958] | uncertain significance | 6 | 85513895 | 85513895 | Human | 1 | name |
| 156156280 | CV1957785 | single nucleotide variant | NM_153816.6(SNX14):c.1303A>G (p.Thr435Ala) | not provided [RCV002573066] | uncertain significance | 6 | 85543268 | 85543268 | Human | | name |
| 156415001 | CV1983126 | single nucleotide variant | NM_153816.6(SNX14):c.2095G>A (p.Asp699Asn) | not provided [RCV002609465] | uncertain significance | 6 | 85526138 | 85526138 | Human | | name |
| 156242270 | CV1996413 | single nucleotide variant | NM_153816.6(SNX14):c.1366C>T (p.Pro456Ser) | not provided [RCV002667967] | uncertain significance | 6 | 85543205 | 85543205 | Human | | name |
| 156007522 | CV2064961 | single nucleotide variant | NM_153816.6(SNX14):c.2267A>G (p.Lys756Arg) | not provided [RCV002843697] | uncertain significance | 6 | 85517757 | 85517757 | Human | | name |
| 155936110 | CV2114171 | single nucleotide variant | NM_153816.6(SNX14):c.1939C>T (p.Pro647Ser) | not provided [RCV002904147] | uncertain significance | 6 | 85528318 | 85528318 | Human | | name |
| 155938016 | CV2125857 | single nucleotide variant | NM_153816.6(SNX14):c.2261A>G (p.Asn754Ser) | not provided [RCV002971087] | uncertain significance | 6 | 85517763 | 85517763 | Human | | name |
| 156126159 | CV2185649 | single nucleotide variant | NM_153816.6(SNX14):c.1414G>A (p.Ala472Thr) | not provided [RCV003055660] | uncertain significance | 6 | 85542019 | 85542019 | Human | | name |
| 156268387 | CV2198899 | single nucleotide variant | NM_015132.5(SNX13):c.1453A>G (p.Ile485Val) | not specified [RCV004077932] | uncertain significance | 7 | 17834772 | 17834772 | Human | | name |
| 156228101 | CV2199380 | single nucleotide variant | NM_015132.5(SNX13):c.2572A>T (p.Ile858Phe) | not specified [RCV004070953] | uncertain significance | 7 | 17796881 | 17796881 | Human | | name |
| 155962351 | CV2200961 | single nucleotide variant | NM_153816.6(SNX14):c.2314A>G (p.Thr772Ala) | Inborn genetic diseases [RCV002686737] | uncertain significance | 6 | 85514584 | 85514584 | Human | 1 | name |
| 156322734 | CV2205221 | single nucleotide variant | NM_014758.3(SNX19):c.2794C>T (p.Arg932Trp) | not specified [RCV004079853] | uncertain significance | 11 | 130879676 | 130879676 | Human | | name |
| 156151392 | CV2209273 | single nucleotide variant | NM_153816.6(SNX14):c.2637G>C (p.Met879Ile) | Inborn genetic diseases [RCV002697667] | uncertain significance | 6 | 85513816 | 85513816 | Human | 1 | name |
| 156375979 | CV2210399 | single nucleotide variant | NM_014758.3(SNX19):c.1316C>T (p.Ser439Phe) | not specified [RCV004089548] | uncertain significance | 11 | 130914624 | 130914624 | Human | | name |
| 155978459 | CV2215033 | single nucleotide variant | NM_014758.3(SNX19):c.2660G>A (p.Gly887Asp) | not specified [RCV004084803] | uncertain significance | 11 | 130880720 | 130880720 | Human | | name |
| 156121005 | CV2226985 | single nucleotide variant | NM_014758.3(SNX19):c.2566G>A (p.Val856Ile) | not specified [RCV004097379] | likely benign | 11 | 130903262 | 130903262 | Human | | name |
| 156070544 | CV2232448 | single nucleotide variant | NM_153816.6(SNX14):c.1675C>T (p.Pro559Ser) | Inborn genetic diseases [RCV002737338] | uncertain significance | 6 | 85533734 | 85533734 | Human | 1 | name |
| 156126341 | CV2234329 | single nucleotide variant | NM_014758.3(SNX19):c.2255G>A (p.Gly752Asp) | not specified [RCV004100563] | uncertain significance | 11 | 130906632 | 130906632 | Human | | name |
| 155969634 | CV2244604 | single nucleotide variant | NM_015132.5(SNX13):c.2240T>C (p.Ile747Thr) | not specified [RCV004102326] | uncertain significance | 7 | 17801646 | 17801646 | Human | | name |
| 156104306 | CV2260565 | single nucleotide variant | NM_014758.3(SNX19):c.1346T>C (p.Ile449Thr) | not specified [RCV004123340] | uncertain significance | 11 | 130914594 | 130914594 | Human | | name |
| 156167923 | CV2270523 | single nucleotide variant | NM_014758.3(SNX19):c.2437G>A (p.Asp813Asn) | not provided [RCV004695476]|not specified [RCV004137480] | uncertain significance | 11 | 130905959 | 130905959 | Human | | name |
| 156137069 | CV2280560 | single nucleotide variant | NM_015132.5(SNX13):c.2293G>A (p.Asp765Asn) | not specified [RCV004143046] | uncertain significance | 7 | 17801593 | 17801593 | Human | | name |
| 155916446 | CV2282070 | single nucleotide variant | NM_014758.3(SNX19):c.1000G>C (p.Glu334Gln) | not specified [RCV004138817] | uncertain significance | 11 | 130914940 | 130914940 | Human | | name |
| 156242578 | CV2283202 | single nucleotide variant | NM_015132.5(SNX13):c.2776C>T (p.Arg926Cys) | not specified [RCV004145880] | uncertain significance | 7 | 17794143 | 17794143 | Human | | name |
| 156272031 | CV2286520 | single nucleotide variant | NM_014758.3(SNX19):c.2381G>A (p.Arg794His) | not specified [RCV004140020] | likely benign | 11 | 130906015 | 130906015 | Human | | name |
| 156141805 | CV2288585 | single nucleotide variant | NM_015132.5(SNX13):c.1412C>G (p.Thr471Ser) | not specified [RCV004152105] | uncertain significance | 7 | 17834813 | 17834813 | Human | | name |
| 155997112 | CV2288586 | single nucleotide variant | NM_015132.5(SNX13):c.2817G>A (p.Met939Ile) | not specified [RCV004152106] | uncertain significance | 7 | 17794102 | 17794102 | Human | | name |
| 156002611 | CV2293346 | single nucleotide variant | NM_014758.3(SNX19):c.1775G>A (p.Arg592His) | not specified [RCV004150826] | uncertain significance | 11 | 130911671 | 130911671 | Human | | name |
| 155955027 | CV2302325 | single nucleotide variant | NM_014758.3(SNX19):c.1271C>A (p.Ala424Asp) | not specified [RCV004161085] | uncertain significance | 11 | 130914669 | 130914669 | Human | | name |
| 156047913 | CV2315727 | single nucleotide variant | NM_014758.3(SNX19):c.1751G>A (p.Arg584Gln) | not specified [RCV004169740] | uncertain significance | 11 | 130911695 | 130911695 | Human | | name |
| 156274854 | CV2316409 | single nucleotide variant | NM_014748.4(SNX17):c.1025G>A (p.Gly342Asp) | not specified [RCV004169903] | uncertain significance | 2 | 27375892 | 27375892 | Human | | name |
| 156281612 | CV2321904 | single nucleotide variant | NM_153816.6(SNX14):c.1007A>C (p.Glu336Ala) | Inborn genetic diseases [RCV002921750] | uncertain significance | 6 | 85547213 | 85547213 | Human | 1 | name |
| 156259768 | CV2322256 | single nucleotide variant | NM_153816.6(SNX14):c.1611T>G (p.Ile537Met) | Inborn genetic diseases [RCV002959677] | uncertain significance | 6 | 85533798 | 85533798 | Human | 1 | name |
| 156352447 | CV2323973 | single nucleotide variant | NM_015132.5(SNX13):c.1798C>T (p.Arg600Cys) | not specified [RCV004176493] | uncertain significance | 7 | 17821556 | 17821556 | Human | | name |
| 156173412 | CV2326851 | single nucleotide variant | NM_014758.3(SNX19):c.2847G>T (p.Arg949Ser) | not specified [RCV004176680] | uncertain significance | 11 | 130878554 | 130878554 | Human | | name |
| 156166098 | CV2330099 | single nucleotide variant | NM_014758.3(SNX19):c.1601G>A (p.Arg534His) | not specified [RCV004185589] | uncertain significance | 11 | 130914339 | 130914339 | Human | | name |
| 155978911 | CV2335229 | single nucleotide variant | NM_013306.5(SNX15):c.1021C>G (p.Pro341Ala) | not specified [RCV004186799] | uncertain significance | 11 | 65039784 | 65039784 | Human | | name |
| 155927124 | CV2345341 | single nucleotide variant | NM_015132.5(SNX13):c.2119G>T (p.Val707Phe) | not specified [RCV004198121] | uncertain significance | 7 | 17803526 | 17803526 | Human | | name |
| 156127032 | CV2351091 | single nucleotide variant | NM_014758.3(SNX19):c.2462C>T (p.Ala821Val) | not specified [RCV004213953] | uncertain significance | 11 | 130903366 | 130903366 | Human | | name |
| 156078974 | CV2351150 | single nucleotide variant | NM_014758.3(SNX19):c.1111T>C (p.Ser371Pro) | not specified [RCV004214005] | uncertain significance | 11 | 130914829 | 130914829 | Human | | name |
| 156146933 | CV2357972 | single nucleotide variant | NM_015132.5(SNX13):c.1460G>A (p.Arg487Lys) | not specified [RCV004209752] | uncertain significance | 7 | 17834765 | 17834765 | Human | | name |
| 155925258 | CV2358294 | single nucleotide variant | NM_153816.6(SNX14):c.1084G>A (p.Val362Met) | Inborn genetic diseases [RCV002992522] | uncertain significance | 6 | 85547136 | 85547136 | Human | 1 | name |
| 156053291 | CV2361008 | single nucleotide variant | NM_014758.3(SNX19):c.2875A>G (p.Ile959Val) | not specified [RCV004216204] | uncertain significance | 11 | 130878526 | 130878526 | Human | | name |
| 155937844 | CV2364926 | single nucleotide variant | NM_015132.5(SNX13):c.2840A>C (p.Gln947Pro) | not specified [RCV004222222] | uncertain significance | 7 | 17794079 | 17794079 | Human | | name |
| 156050418 | CV2367506 | single nucleotide variant | NM_014758.3(SNX19):c.1127C>T (p.Pro376Leu) | not specified [RCV004211442] | uncertain significance | 11 | 130914813 | 130914813 | Human | | name |
| 155932967 | CV2372197 | single nucleotide variant | NM_014758.3(SNX19):c.1282C>T (p.Pro428Ser) | not specified [RCV004216977] | uncertain significance | 11 | 130914658 | 130914658 | Human | | name |
| 155933864 | CV2372351 | single nucleotide variant | NM_014758.3(SNX19):c.1250A>C (p.Glu417Ala) | not specified [RCV004217118] | uncertain significance | 11 | 130914690 | 130914690 | Human | | name |
| 156165237 | CV2376332 | single nucleotide variant | NM_014758.3(SNX19):c.1387G>C (p.Ala463Pro) | not specified [RCV004222592] | uncertain significance | 11 | 130914553 | 130914553 | Human | | name |
| 156061513 | CV2380251 | single nucleotide variant | NM_014758.3(SNX19):c.1693G>A (p.Gly565Ser) | not provided [RCV004703308]|not specified [RCV004224609] | likely benign | 11 | 130911753 | 130911753 | Human | | name |
| 156103281 | CV2400198 | single nucleotide variant | NM_014758.3(SNX19):c.1122G>T (p.Glu374Asp) | not specified [RCV004242992] | uncertain significance | 11 | 130914818 | 130914818 | Human | | name |
| 329356381 | CV2430722 | single nucleotide variant | NM_014758.3(SNX19):c.1000G>A (p.Glu334Lys) | not specified [RCV004253905] | uncertain significance | 11 | 130914940 | 130914940 | Human | | name |
| 329349838 | CV2438925 | single nucleotide variant | NM_153816.6(SNX14):c.2725C>G (p.Gln909Glu) | Inborn genetic diseases [RCV003192649] | uncertain significance | 6 | 85507988 | 85507988 | Human | 1 | name |
| 329402414 | CV2454204 | single nucleotide variant | NM_014758.3(SNX19):c.1933G>A (p.Glu645Lys) | not specified [RCV004265686] | uncertain significance | 11 | 130910119 | 130910119 | Human | | name |
| 329397477 | CV2466234 | single nucleotide variant | NM_014758.3(SNX19):c.1778T>C (p.Leu593Pro) | not specified [RCV004279867] | uncertain significance | 11 | 130911668 | 130911668 | Human | | name |
| 329847858 | CV2534193 | single nucleotide variant | NM_153816.6(SNX14):c.2654A>G (p.Asp885Gly) | not provided [RCV003228400] | uncertain significance | 6 | 85508059 | 85508059 | Human | | name |
| 13211223 | CV263760 | single nucleotide variant | NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) | Autosomal recessive spinocerebellar ataxia 20 [RCV000498500] | pathogenic | 6 | 85547112 | 85547112 | Human | 1 | name |
| 401771369 | CV2675572 | single nucleotide variant | NM_014758.3(SNX19):c.1687C>T (p.Leu563Phe) | not specified [RCV004295185] | uncertain significance | 11 | 130911759 | 130911759 | Human | | name |
| 401728213 | CV2676012 | single nucleotide variant | NM_015132.5(SNX13):c.2576G>A (p.Arg859Gln) | not specified [RCV004282002] | uncertain significance | 7 | 17796877 | 17796877 | Human | | name |
| 401743579 | CV2679257 | single nucleotide variant | NM_153816.6(SNX14):c.1630A>G (p.Met544Val) | Inborn genetic diseases [RCV003239793] | uncertain significance | 6 | 85533779 | 85533779 | Human | 1 | name |
| 401757447 | CV2693007 | single nucleotide variant | NM_015132.5(SNX13):c.1098T>G (p.Phe366Leu) | not specified [RCV004306512] | uncertain significance | 7 | 17845662 | 17845662 | Human | | name |
| 401760507 | CV2695065 | single nucleotide variant | NM_014758.3(SNX19):c.1915C>A (p.Gln639Lys) | not specified [RCV004303223] | uncertain significance | 11 | 130910137 | 130910137 | Human | | name |
| 401725347 | CV2697373 | single nucleotide variant | NM_014758.3(SNX19):c.1546T>C (p.Phe516Leu) | not specified [RCV004304123] | uncertain significance | 11 | 130914394 | 130914394 | Human | | name |
| 401748296 | CV2698342 | single nucleotide variant | NM_015132.5(SNX13):c.1757A>T (p.His586Leu) | not specified [RCV004304884] | uncertain significance | 7 | 17821597 | 17821597 | Human | | name |
| 401730614 | CV2711416 | single nucleotide variant | NM_015132.5(SNX13):c.1412C>T (p.Thr471Ile) | not specified [RCV004313168] | uncertain significance | 7 | 17834813 | 17834813 | Human | | name |
| 401761616 | CV2713821 | single nucleotide variant | NM_001102575.2(SNX18):c.34A>G (p.Arg12Gly) | not specified [RCV004315269] | uncertain significance | 5 | 54517986 | 54517986 | Human | | name |
| 401752100 | CV2714116 | single nucleotide variant | NM_014748.4(SNX17):c.1237G>A (p.Val413Met) | not specified [RCV004317372] | uncertain significance | 2 | 27376367 | 27376367 | Human | | name |
| 401784295 | CV2721241 | single nucleotide variant | NM_015132.5(SNX13):c.1382A>G (p.Asp461Gly) | not specified [RCV004330181] | uncertain significance | 7 | 17834843 | 17834843 | Human | | name |
| 401856977 | CV2759910 | single nucleotide variant | NM_015132.5(SNX13):c.2105A>C (p.Asn702Thr) | not specified [RCV004345336] | uncertain significance | 7 | 17803540 | 17803540 | Human | | name |
| 401893745 | CV2762033 | single nucleotide variant | NM_015132.5(SNX13):c.1888A>G (p.Thr630Ala) | not specified [RCV004341854] | uncertain significance | 7 | 17816247 | 17816247 | Human | | name |
| 401890031 | CV2763599 | single nucleotide variant | NM_014748.4(SNX17):c.1208C>T (p.Thr403Ile) | not specified [RCV004343108] | uncertain significance | 2 | 27376338 | 27376338 | Human | | name |
| 401887216 | CV2773239 | single nucleotide variant | NM_014758.3(SNX19):c.1388C>T (p.Ala463Val) | not specified [RCV004353916] | uncertain significance | 11 | 130914552 | 130914552 | Human | | name |
| 401856743 | CV2775289 | single nucleotide variant | NM_153816.6(SNX14):c.2617A>G (p.Lys873Glu) | Inborn genetic diseases [RCV003343211] | uncertain significance | 6 | 85513836 | 85513836 | Human | 1 | name |
| 401892284 | CV2776046 | single nucleotide variant | NM_015132.5(SNX13):c.2248A>G (p.Thr750Ala) | not specified [RCV004353152] | uncertain significance | 7 | 17801638 | 17801638 | Human | | name |
| 401859271 | CV2783544 | single nucleotide variant | NM_153816.6(SNX14):c.1184A>G (p.Lys395Arg) | Inborn genetic diseases [RCV003381571] | uncertain significance | 6 | 85543685 | 85543685 | Human | 1 | name |
| 401897431 | CV2787036 | single nucleotide variant | NM_014758.3(SNX19):c.1940C>T (p.Ala647Val) | not specified [RCV004366156] | uncertain significance | 11 | 130910112 | 130910112 | Human | | name |
| 401858636 | CV2788227 | single nucleotide variant | NM_153816.6(SNX14):c.1903C>T (p.Pro635Ser) | Inborn genetic diseases [RCV003371573] | uncertain significance | 6 | 85528354 | 85528354 | Human | 1 | name |
| 401859248 | CV2788923 | single nucleotide variant | NM_153816.6(SNX14):c.1026G>C (p.Glu342Asp) | Inborn genetic diseases [RCV003381362] | uncertain significance | 6 | 85547194 | 85547194 | Human | 1 | name |
| 401876029 | CV2789270 | single nucleotide variant | NM_015132.5(SNX13):c.2788A>G (p.Asn930Asp) | not specified [RCV004365299] | uncertain significance | 7 | 17794131 | 17794131 | Human | | name |
| 405732341 | CV3322539 | single nucleotide variant | NM_015132.5(SNX13):c.1090G>C (p.Ala364Pro) | not specified [RCV004464501] | uncertain significance | 7 | 17845670 | 17845670 | Human | | name |
| 405732348 | CV3322540 | single nucleotide variant | NM_015132.5(SNX13):c.1268G>A (p.Arg423His) | not specified [RCV004464502] | uncertain significance | 7 | 17839898 | 17839898 | Human | | name |
| 405732356 | CV3322541 | single nucleotide variant | NM_015132.5(SNX13):c.1418A>G (p.Asn473Ser) | not specified [RCV004464503] | uncertain significance | 7 | 17834807 | 17834807 | Human | | name |
| 405732365 | CV3322542 | single nucleotide variant | NM_015132.5(SNX13):c.1531C>T (p.Arg511Cys) | not specified [RCV004464504] | uncertain significance | 7 | 17834118 | 17834118 | Human | | name |
| 405732376 | CV3322543 | single nucleotide variant | NM_015132.5(SNX13):c.1719T>A (p.Asp573Glu) | not specified [RCV004464505] | uncertain significance | 7 | 17821635 | 17821635 | Human | | name |
| 405732385 | CV3322544 | single nucleotide variant | NM_015132.5(SNX13):c.1762C>T (p.Arg588Cys) | not specified [RCV004464506] | uncertain significance | 7 | 17821592 | 17821592 | Human | | name |
| 405732393 | CV3322545 | single nucleotide variant | NM_015132.5(SNX13):c.1982C>T (p.Ala661Val) | not specified [RCV004464507] | uncertain significance | 7 | 17814916 | 17814916 | Human | | name |
| 405732403 | CV3322546 | single nucleotide variant | NM_015132.5(SNX13):c.2138G>A (p.Ser713Asn) | not specified [RCV004464508] | uncertain significance | 7 | 17803507 | 17803507 | Human | | name |
| 405732409 | CV3322547 | single nucleotide variant | NM_015132.5(SNX13):c.2645T>C (p.Ile882Thr) | not specified [RCV004464509] | uncertain significance | 7 | 17794274 | 17794274 | Human | | name |
| 405732416 | CV3322548 | single nucleotide variant | NM_015132.5(SNX13):c.2731T>C (p.Phe911Leu) | not specified [RCV004464510] | uncertain significance | 7 | 17794188 | 17794188 | Human | | name |
| 405732427 | CV3322549 | single nucleotide variant | NM_015132.5(SNX13):c.2740G>A (p.Gly914Ser) | not specified [RCV004464511] | uncertain significance | 7 | 17794179 | 17794179 | Human | | name |
| 405732449 | CV3322552 | single nucleotide variant | NM_153816.6(SNX14):c.1805G>C (p.Arg602Thr) | Inborn genetic diseases [RCV004464514] | uncertain significance | 6 | 85533604 | 85533604 | Human | 1 | name |
| 405732456 | CV3322553 | single nucleotide variant | NM_153816.6(SNX14):c.2168C>G (p.Pro723Arg) | Inborn genetic diseases [RCV004464515] | uncertain significance | 6 | 85517856 | 85517856 | Human | 1 | name |
| 405732464 | CV3322554 | single nucleotide variant | NM_153816.6(SNX14):c.2230C>G (p.Leu744Val) | Inborn genetic diseases [RCV004464516] | uncertain significance | 6 | 85517794 | 85517794 | Human | 1 | name |
| 405732472 | CV3322555 | single nucleotide variant | NM_153816.6(SNX14):c.2528G>A (p.Arg843His) | Inborn genetic diseases [RCV004464517] | uncertain significance | 6 | 85514099 | 85514099 | Human | 1 | name |
| 405732616 | CV3322574 | single nucleotide variant | NM_014748.4(SNX17):c.1168G>A (p.Gly390Ser) | not specified [RCV004464536] | uncertain significance | 2 | 27376169 | 27376169 | Human | | name |
| 405732622 | CV3322575 | single nucleotide variant | NM_014748.4(SNX17):c.1196G>A (p.Arg399Gln) | not specified [RCV004464537] | uncertain significance | 2 | 27376326 | 27376326 | Human | | name |
| 405732631 | CV3322576 | single nucleotide variant | NM_014748.4(SNX17):c.1255C>T (p.Leu419Phe) | not specified [RCV004464538] | uncertain significance | 2 | 27376385 | 27376385 | Human | | name |
| 405732643 | CV3322577 | single nucleotide variant | NM_014748.4(SNX17):c.1303A>C (p.Lys435Gln) | not specified [RCV004464539] | uncertain significance | 2 | 27376609 | 27376609 | Human | | name |
| 405732650 | CV3322578 | single nucleotide variant | NM_014748.4(SNX17):c.1396G>C (p.Gly466Arg) | not specified [RCV004464540] | uncertain significance | 2 | 27376702 | 27376702 | Human | | name |
| 405732791 | CV3322595 | single nucleotide variant | NM_014758.3(SNX19):c.1153A>G (p.Ile385Val) | not specified [RCV004464557] | uncertain significance | 11 | 130914787 | 130914787 | Human | | name |
| 405732808 | CV3322597 | single nucleotide variant | NM_014758.3(SNX19):c.1391C>A (p.Ser464Tyr) | not specified [RCV004464559] | uncertain significance | 11 | 130914549 | 130914549 | Human | | name |
| 405732822 | CV3322599 | single nucleotide variant | NM_014758.3(SNX19):c.1484A>G (p.Asp495Gly) | not specified [RCV004464561] | uncertain significance | 11 | 130914456 | 130914456 | Human | | name |
| 405732837 | CV3322601 | single nucleotide variant | NM_014758.3(SNX19):c.1678G>A (p.Glu560Lys) | not specified [RCV004464563] | uncertain significance | 11 | 130911768 | 130911768 | Human | | name |
| 405732848 | CV3322602 | single nucleotide variant | NM_014758.3(SNX19):c.2159C>G (p.Ala720Gly) | not specified [RCV004464564] | uncertain significance | 11 | 130907959 | 130907959 | Human | | name |
| 405732853 | CV3322603 | single nucleotide variant | NM_014758.3(SNX19):c.2395G>T (p.Val799Leu) | not specified [RCV004464565] | likely benign | 11 | 130906001 | 130906001 | Human | | name |
| 405732862 | CV3322604 | single nucleotide variant | NM_014758.3(SNX19):c.2518T>C (p.Cys840Arg) | not specified [RCV004464566] | uncertain significance | 11 | 130903310 | 130903310 | Human | | name |
| 405732869 | CV3322605 | single nucleotide variant | NM_014758.3(SNX19):c.2524G>A (p.Glu842Lys) | not specified [RCV004464567] | uncertain significance | 11 | 130903304 | 130903304 | Human | | name |
| 405732879 | CV3322606 | single nucleotide variant | NM_014758.3(SNX19):c.2624A>G (p.Gln875Arg) | not specified [RCV004464568] | uncertain significance | 11 | 130880756 | 130880756 | Human | | name |
| 405732888 | CV3322607 | single nucleotide variant | NM_014758.3(SNX19):c.2656C>T (p.Pro886Ser) | not specified [RCV004464569] | uncertain significance | 11 | 130880724 | 130880724 | Human | | name |
| 405732895 | CV3322608 | single nucleotide variant | NM_014758.3(SNX19):c.2684G>A (p.Arg895Gln) | not specified [RCV004464570] | uncertain significance | 11 | 130880696 | 130880696 | Human | | name |
| 405732904 | CV3322609 | single nucleotide variant | NM_014758.3(SNX19):c.2693G>T (p.Arg898Met) | not specified [RCV004464571] | uncertain significance | 11 | 130880687 | 130880687 | Human | | name |
| 405732908 | CV3322610 | single nucleotide variant | NM_014758.3(SNX19):c.2836C>G (p.Leu946Val) | not specified [RCV004464572] | uncertain significance | 11 | 130879634 | 130879634 | Human | | name |
| 407503820 | CV3484780 | single nucleotide variant | NM_015132.5(SNX13):c.1580C>T (p.Ser527Phe) | not specified [RCV004670376] | uncertain significance | 7 | 17834069 | 17834069 | Human | | name |
| 407525301 | CV3484781 | single nucleotide variant | NM_015132.5(SNX13):c.1629A>G (p.Ile543Met) | not specified [RCV004679123] | uncertain significance | 7 | 17830016 | 17830016 | Human | | name |
| 407503825 | CV3484782 | single nucleotide variant | NM_015132.5(SNX13):c.1108T>G (p.Cys370Gly) | not specified [RCV004670377] | uncertain significance | 7 | 17845652 | 17845652 | Human | | name |
| 407503914 | CV3484783 | single nucleotide variant | NM_153816.6(SNX14):c.1802G>T (p.Arg601Ile) | Inborn genetic diseases [RCV004670378] | uncertain significance | 6 | 85533607 | 85533607 | Human | 1 | name |
| 407503916 | CV3484784 | single nucleotide variant | NM_153816.6(SNX14):c.1805G>A (p.Arg602Lys) | Inborn genetic diseases [RCV004670379] | uncertain significance | 6 | 85533604 | 85533604 | Human | 1 | name |
| 407503920 | CV3484785 | single nucleotide variant | NM_153816.6(SNX14):c.2527C>T (p.Arg843Cys) | Inborn genetic diseases [RCV004670380] | uncertain significance | 6 | 85514100 | 85514100 | Human | 1 | name |
| 407525302 | CV3484788 | single nucleotide variant | NM_153816.6(SNX14):c.2506G>C (p.Glu836Gln) | Inborn genetic diseases [RCV004679124] | uncertain significance | 6 | 85514121 | 85514121 | Human | 1 | name |
| 407503929 | CV3484789 | single nucleotide variant | NM_153816.6(SNX14):c.2678A>C (p.Glu893Ala) | Inborn genetic diseases [RCV004670383] | uncertain significance | 6 | 85508035 | 85508035 | Human | 1 | name |
| 407525303 | CV3484790 | single nucleotide variant | NM_153816.6(SNX14):c.1259A>G (p.Gln420Arg) | Inborn genetic diseases [RCV004679125] | uncertain significance | 6 | 85543610 | 85543610 | Human | 1 | name |
| 407503931 | CV3484791 | single nucleotide variant | NM_153816.6(SNX14):c.1933A>G (p.Ile645Val) | Inborn genetic diseases [RCV004670384] | uncertain significance | 6 | 85528324 | 85528324 | Human | 1 | name |
| 407503934 | CV3484792 | single nucleotide variant | NM_153816.6(SNX14):c.2189A>G (p.Asn730Ser) | Inborn genetic diseases [RCV004670385] | uncertain significance | 6 | 85517835 | 85517835 | Human | 1 | name |
| 407525306 | CV3484798 | single nucleotide variant | NM_014748.4(SNX17):c.1001C>T (p.Thr334Met) | not specified [RCV004679128] | uncertain significance | 2 | 27375868 | 27375868 | Human | | name |
| 407525307 | CV3484799 | single nucleotide variant | NM_014748.4(SNX17):c.1202G>C (p.Gly401Ala) | not specified [RCV004679129] | uncertain significance | 2 | 27376332 | 27376332 | Human | | name |
| 407525308 | CV3484800 | single nucleotide variant | NM_014748.4(SNX17):c.1073G>A (p.Arg358Gln) | not specified [RCV004679130] | uncertain significance | 2 | 27375940 | 27375940 | Human | | name |
| 407525312 | CV3484811 | single nucleotide variant | NM_014758.3(SNX19):c.1288A>G (p.Thr430Ala) | not specified [RCV004679134] | uncertain significance | 11 | 130914652 | 130914652 | Human | | name |
| 407525313 | CV3484812 | single nucleotide variant | NM_014758.3(SNX19):c.2677T>C (p.Phe893Leu) | not specified [RCV004679135] | uncertain significance | 11 | 130880703 | 130880703 | Human | | name |
| 407494425 | CV3495473 | single nucleotide variant | NM_153816.6(SNX14):c.2506G>T (p.Glu836Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV004696582] | likely pathogenic | 6 | 85514121 | 85514121 | Human | 1 | name |
| 596932261 | CV3538880 | single nucleotide variant | NM_153816.6(SNX14):c.2402T>G (p.Val801Gly) | not provided [RCV004793006] | uncertain significance | 6 | 85514225 | 85514225 | Human | | name |
| 12742557 | CV359787 | single nucleotide variant | NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV001808789]|not provided [RCV000413946] | pathogenic | 6 | 85547112 | 85547112 | Human | 1 | name |
| 597741021 | CV3607233 | single nucleotide variant | NM_015132.5(SNX13):c.2215T>C (p.Ser739Pro) | not specified [RCV004864776] | uncertain significance | 7 | 17803430 | 17803430 | Human | | name |
| 597745222 | CV3607234 | single nucleotide variant | NM_015132.5(SNX13):c.1657G>A (p.Val553Ile) | not specified [RCV004865628] | uncertain significance | 7 | 17826070 | 17826070 | Human | | name |
| 597745227 | CV3607235 | single nucleotide variant | NM_015132.5(SNX13):c.1217T>C (p.Val406Ala) | not specified [RCV004865629] | uncertain significance | 7 | 17839949 | 17839949 | Human | | name |
| 597745239 | CV3607237 | single nucleotide variant | NM_015132.5(SNX13):c.1479G>A (p.Met493Ile) | not specified [RCV004865631] | uncertain significance | 7 | 17834170 | 17834170 | Human | | name |
| 597745244 | CV3607238 | single nucleotide variant | NM_015132.5(SNX13):c.1585G>A (p.Asp529Asn) | not specified [RCV004865632] | uncertain significance | 7 | 17834064 | 17834064 | Human | | name |
| 597745259 | CV3607242 | single nucleotide variant | NM_015132.5(SNX13):c.1181C>G (p.Thr394Ser) | not specified [RCV004865635] | uncertain significance | 7 | 17839985 | 17839985 | Human | | name |
| 597745318 | CV3607257 | single nucleotide variant | NM_014748.4(SNX17):c.1352C>T (p.Ala451Val) | not specified [RCV004865646] | uncertain significance | 2 | 27376658 | 27376658 | Human | | name |
| 597741074 | CV3607269 | single nucleotide variant | NM_014758.3(SNX19):c.1007T>C (p.Val336Ala) | not specified [RCV004864787] | uncertain significance | 11 | 130914933 | 130914933 | Human | | name |
| 597741080 | CV3607273 | single nucleotide variant | NM_014758.3(SNX19):c.1987C>T (p.Arg663Cys) | not specified [RCV004864788] | uncertain significance | 11 | 130910065 | 130910065 | Human | | name |
| 597745360 | CV3607274 | single nucleotide variant | NM_014758.3(SNX19):c.1085G>A (p.Arg362Gln) | not specified [RCV004865654] | uncertain significance | 11 | 130914855 | 130914855 | Human | | name |
| 597741085 | CV3607275 | single nucleotide variant | NM_014758.3(SNX19):c.2158G>T (p.Ala720Ser) | not specified [RCV004864789] | uncertain significance | 11 | 130907960 | 130907960 | Human | | name |
| 597745365 | CV3607276 | single nucleotide variant | NM_014758.3(SNX19):c.1522C>T (p.Pro508Ser) | not specified [RCV004865655] | uncertain significance | 11 | 130914418 | 130914418 | Human | | name |
| 597745372 | CV3607277 | single nucleotide variant | NM_014758.3(SNX19):c.1931C>T (p.Pro644Leu) | not specified [RCV004865656] | uncertain significance | 11 | 130910121 | 130910121 | Human | | name |
| 597745382 | CV3607279 | single nucleotide variant | NM_014758.3(SNX19):c.1006G>T (p.Val336Leu) | not specified [RCV004865658] | likely benign | 11 | 130914934 | 130914934 | Human | | name |
| 597741093 | CV3607282 | single nucleotide variant | NM_014758.3(SNX19):c.2026A>G (p.Ile676Val) | not specified [RCV004864791] | uncertain significance | 11 | 130910026 | 130910026 | Human | | name |
| 597745397 | CV3607284 | single nucleotide variant | NM_014758.3(SNX19):c.2171G>C (p.Arg724Thr) | not specified [RCV004865661] | uncertain significance | 11 | 130906716 | 130906716 | Human | | name |
| 597741103 | CV3607286 | single nucleotide variant | NM_014758.3(SNX19):c.2621T>G (p.Val874Gly) | not specified [RCV004864793] | uncertain significance | 11 | 130880759 | 130880759 | Human | | name |
| 597745402 | CV3607287 | single nucleotide variant | NM_014758.3(SNX19):c.1360A>G (p.Lys454Glu) | not specified [RCV004865662] | uncertain significance | 11 | 130914580 | 130914580 | Human | | name |
| 597745414 | CV3607289 | single nucleotide variant | NM_014758.3(SNX19):c.1747T>C (p.Tyr583His) | not specified [RCV004865664] | uncertain significance | 11 | 130911699 | 130911699 | Human | | name |
| 598171858 | CV3911656 | single nucleotide variant | NM_015132.5(SNX13):c.2761C>T (p.Pro921Ser) | not specified [RCV005284891] | uncertain significance | 7 | 17794158 | 17794158 | Human | | name |
| 598171853 | CV3911657 | single nucleotide variant | NM_015132.5(SNX13):c.1484G>T (p.Arg495Leu) | not specified [RCV005284892] | uncertain significance | 7 | 17834165 | 17834165 | Human | | name |
| 598171838 | CV3911660 | single nucleotide variant | NM_015132.5(SNX13):c.1187G>T (p.Gly396Val) | not specified [RCV005284895] | uncertain significance | 7 | 17839979 | 17839979 | Human | | name |
| 598171808 | CV3911667 | single nucleotide variant | NM_153816.6(SNX14):c.1133G>A (p.Arg378Gln) | Inborn genetic diseases [RCV005284902] | uncertain significance | 6 | 85543736 | 85543736 | Human | 1 | name |
| 598171763 | CV3911695 | single nucleotide variant | NM_014758.3(SNX19):c.1573G>A (p.Asp525Asn) | not specified [RCV005284930] | uncertain significance | 11 | 130914367 | 130914367 | Human | | name |
| 598171769 | CV3911696 | single nucleotide variant | NM_014758.3(SNX19):c.1816G>A (p.Val606Met) | not specified [RCV005284931] | uncertain significance | 11 | 130910368 | 130910368 | Human | | name |
| 598171774 | CV3911697 | single nucleotide variant | NM_014758.3(SNX19):c.2689G>A (p.Val897Ile) | not specified [RCV005284932] | uncertain significance | 11 | 130880691 | 130880691 | Human | | name |
| 598171778 | CV3911698 | single nucleotide variant | NM_014758.3(SNX19):c.2652C>G (p.Ile884Met) | not specified [RCV005284933] | uncertain significance | 11 | 130880728 | 130880728 | Human | | name |
| 598171783 | CV3911699 | single nucleotide variant | NM_014758.3(SNX19):c.1438C>T (p.Pro480Ser) | not specified [RCV005284934] | uncertain significance | 11 | 130914502 | 130914502 | Human | | name |
| 598171787 | CV3911700 | single nucleotide variant | NM_014758.3(SNX19):c.1385C>T (p.Thr462Ile) | not specified [RCV005284935] | uncertain significance | 11 | 130914555 | 130914555 | Human | | name |
| 598171792 | CV3911701 | single nucleotide variant | NM_014758.3(SNX19):c.2473C>G (p.Leu825Val) | not specified [RCV005284936] | uncertain significance | 11 | 130903355 | 130903355 | Human | | name |
| 598238466 | CV3911703 | single nucleotide variant | NM_014758.3(SNX19):c.2185T>G (p.Ser729Ala) | not specified [RCV005275837] | uncertain significance | 11 | 130906702 | 130906702 | Human | | name |
| 598171946 | CV3911704 | single nucleotide variant | NM_014758.3(SNX19):c.1517C>G (p.Ser506Cys) | not specified [RCV005284938] | uncertain significance | 11 | 130914423 | 130914423 | Human | | name |
| 598171951 | CV3911705 | single nucleotide variant | NM_014758.3(SNX19):c.1244A>G (p.Asp415Gly) | not specified [RCV005284939] | uncertain significance | 11 | 130914696 | 130914696 | Human | | name |
| 598171957 | CV3911706 | single nucleotide variant | NM_014758.3(SNX19):c.1303G>A (p.Gly435Ser) | not specified [RCV005284940] | uncertain significance | 11 | 130914637 | 130914637 | Human | | name |
| 598171962 | CV3911707 | single nucleotide variant | NM_014758.3(SNX19):c.1184C>T (p.Ser395Phe) | not specified [RCV005284941] | uncertain significance | 11 | 130914756 | 130914756 | Human | | name |
| 598171967 | CV3911708 | single nucleotide variant | NM_014758.3(SNX19):c.1741C>T (p.Arg581Cys) | not specified [RCV005284942] | uncertain significance | 11 | 130911705 | 130911705 | Human | | name |
| 598171971 | CV3911709 | single nucleotide variant | NM_014758.3(SNX19):c.1621G>T (p.Ala541Ser) | not specified [RCV005284943] | uncertain significance | 11 | 130914319 | 130914319 | Human | | name |
| 598171977 | CV3911710 | single nucleotide variant | NM_014758.3(SNX19):c.2162G>C (p.Ser721Thr) | not specified [RCV005284944] | uncertain significance | 11 | 130907956 | 130907956 | Human | | name |
| 616933246 | CV4012870 | single nucleotide variant | NM_153816.6(SNX14):c.1678C>T (p.Arg560Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV005410334] | likely pathogenic | 6 | 85533731 | 85533731 | Human | 1 | name |
| 13704839 | CV539004 | single nucleotide variant | NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) | Autosomal recessive spinocerebellar ataxia 20 [RCV000662090] | uncertain significance | 6 | 85514180 | 85514180 | Human | 1 | name |
| 15196791 | CV699113 | single nucleotide variant | NM_001102575.2(SNX18):c.879G>A (p.Lys293=) | not provided [RCV000956284] | benign | 5 | 54518831 | 54518831 | Human | | name |
| 15180641 | CV709938 | single nucleotide variant | NM_001102575.2(SNX18):c.495G>C (p.Ala165=) | not provided [RCV000974201] | benign | 5 | 54518447 | 54518447 | Human | | name |
| 15123152 | CV710634 | single nucleotide variant | NM_153816.6(SNX14):c.1190A>G (p.Tyr397Cys) | Inborn genetic diseases [RCV002548287]|not provided [RCV000963190] | benign|likely benign | 6 | 85543679 | 85543679 | Human | 1 | name |
| 15140943 | CV712726 | single nucleotide variant | NM_014758.3(SNX19):c.2683C>T (p.Arg895Trp) | not provided [RCV000966226] | benign | 11 | 130880697 | 130880697 | Human | | name |
| 15164729 | CV712727 | single nucleotide variant | NM_014758.3(SNX19):c.2482C>G (p.Leu828Val) | not provided [RCV000970791] | likely benign | 11 | 130903346 | 130903346 | Human | | name |
| 15156222 | CV712728 | single nucleotide variant | NM_014758.3(SNX19):c.2444G>C (p.Gly815Ala) | not provided [RCV000969072] | benign | 11 | 130903384 | 130903384 | Human | | name |
| 21069390 | CV795915 | single nucleotide variant | NM_153816.6(SNX14):c.1651G>T (p.Glu551Ter) | not provided [RCV000998657] | likely pathogenic | 6 | 85533758 | 85533758 | Human | | name |
| 25318623 | CV805518 | duplication | NM_153816.6(SNX14):c.1725dup (p.Glu576Ter) | not provided [RCV001008732] | pathogenic | 6 | 85533683 | 85533684 | Human | | name |
| 8630290 | CV85445 | single nucleotide variant | NM_014748.3(SNX17):c.1373G>A (p.Gly458Asp) | Malignant melanoma [RCV000065528] | not provided | 2 | 27376679 | 27376679 | Human | | name |
| 8632191 | CV87397 | single nucleotide variant | NM_020468.5(SNX14):c.1126C>T (p.Gln376Ter) | Malignant melanoma [RCV000067488] | not provided | 6 | 85543611 | 85543611 | Human | | name |
| 38462080 | CV919064 | single nucleotide variant | NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) | Autosomal recessive spinocerebellar ataxia 20 [RCV001198150] | likely pathogenic | 6 | 85543271 | 85543271 | Human | 1 | name |
| 156258665 | CV2277763 | single nucleotide variant | NM_001102575.2(SNX18):c.278C>G (p.Pro93Arg) | not specified [RCV004147199] | uncertain significance | 5 | 54518230 | 54518230 | Human | | name |
| 156009989 | CV2290958 | single nucleotide variant | NM_001102575.2(SNX18):c.278C>T (p.Pro93Leu) | not specified [RCV004151514] | uncertain significance | 5 | 54518230 | 54518230 | Human | | name |
| 156057835 | CV2305188 | single nucleotide variant | NM_001102575.2(SNX18):c.124G>A (p.Val42Ile) | not specified [RCV004171125] | uncertain significance | 5 | 54518076 | 54518076 | Human | | name |
| 156152476 | CV2318915 | single nucleotide variant | NM_001102575.2(SNX18):c.224C>T (p.Pro75Leu) | not specified [RCV004175811] | uncertain significance | 5 | 54518176 | 54518176 | Human | | name |
| 155913526 | CV2341800 | single nucleotide variant | NM_001102575.2(SNX18):c.239A>G (p.Asn80Ser) | not specified [RCV004184757] | uncertain significance | 5 | 54518191 | 54518191 | Human | | name |
| 156291419 | CV2342894 | single nucleotide variant | NM_001102575.2(SNX18):c.124G>C (p.Val42Leu) | not specified [RCV004189928] | uncertain significance | 5 | 54518076 | 54518076 | Human | | name |
| 401763738 | CV2725278 | single nucleotide variant | NM_001102575.2(SNX18):c.158C>T (p.Ala53Val) | not specified [RCV004319944] | uncertain significance | 5 | 54518110 | 54518110 | Human | | name |
| 405732736 | CV3322588 | single nucleotide variant | NM_001102575.2(SNX18):c.173T>A (p.Val58Glu) | not specified [RCV004464550] | uncertain significance | 5 | 54518125 | 54518125 | Human | | name |
| 405732753 | CV3322590 | single nucleotide variant | NM_001102575.2(SNX18):c.215C>T (p.Pro72Leu) | not specified [RCV004464552] | uncertain significance | 5 | 54518167 | 54518167 | Human | | name |
| 156206801 | CV2160190 | microsatellite | NM_013322.3(SNX10):c.482AAG[1] (p.Glu162del) | not provided [RCV003042180] | uncertain significance | 7 | 26371990 | 26371992 | Human | | name |
| 156317467 | CV2203988 | single nucleotide variant | NM_001102575.2(SNX18):c.380C>G (p.Pro127Arg) | not specified [RCV004070030] | uncertain significance | 5 | 54518332 | 54518332 | Human | | name |
| 155920413 | CV2279591 | single nucleotide variant | NM_001102575.2(SNX18):c.332A>G (p.Gln111Arg) | not specified [RCV004142092] | uncertain significance | 5 | 54518284 | 54518284 | Human | | name |
| 155965106 | CV2286872 | single nucleotide variant | NM_001102575.2(SNX18):c.346C>G (p.Pro116Ala) | not specified [RCV004142671] | uncertain significance | 5 | 54518298 | 54518298 | Human | | name |
| 156275188 | CV2287580 | single nucleotide variant | NM_001102575.2(SNX18):c.629T>A (p.Val210Asp) | not specified [RCV004141026] | uncertain significance | 5 | 54518581 | 54518581 | Human | | name |
| 156343416 | CV2364111 | single nucleotide variant | NM_001102575.2(SNX18):c.365C>T (p.Pro122Leu) | not specified [RCV004221489] | uncertain significance | 5 | 54518317 | 54518317 | Human | | name |
| 329398149 | CV2464814 | single nucleotide variant | NM_001102575.2(SNX18):c.373G>A (p.Gly125Ser) | not specified [RCV004284763] | uncertain significance | 5 | 54518325 | 54518325 | Human | | name |
| 401781054 | CV2681876 | single nucleotide variant | NM_001102575.2(SNX18):c.928C>T (p.His310Tyr) | not specified [RCV004296869] | uncertain significance | 5 | 54518880 | 54518880 | Human | | name |
| 405732773 | CV3322592 | single nucleotide variant | NM_001102575.2(SNX18):c.338C>T (p.Ala113Val) | not specified [RCV004464554] | uncertain significance | 5 | 54518290 | 54518290 | Human | | name |
| 405732780 | CV3322593 | single nucleotide variant | NM_001102575.2(SNX18):c.379C>A (p.Pro127Thr) | not specified [RCV004464555] | uncertain significance | 5 | 54518331 | 54518331 | Human | | name |
| 405732786 | CV3322594 | single nucleotide variant | NM_001102575.2(SNX18):c.463G>A (p.Asp155Asn) | not specified [RCV004464556] | uncertain significance | 5 | 54518415 | 54518415 | Human | | name |
| 407503955 | CV3484804 | single nucleotide variant | NM_001102575.2(SNX18):c.571G>A (p.Gly191Ser) | not specified [RCV004670391] | uncertain significance | 5 | 54518523 | 54518523 | Human | | name |
| 407525310 | CV3484806 | single nucleotide variant | NM_001102575.2(SNX18):c.689A>G (p.Asn230Ser) | not specified [RCV004679132] | uncertain significance | 5 | 54518641 | 54518641 | Human | | name |
| 407525311 | CV3484808 | single nucleotide variant | NM_001102575.2(SNX18):c.668C>T (p.Ala223Val) | not specified [RCV004679133] | uncertain significance | 5 | 54518620 | 54518620 | Human | | name |
| 597741044 | CV3607259 | single nucleotide variant | NM_001102575.2(SNX18):c.574C>A (p.Arg192Ser) | not specified [RCV004864781] | uncertain significance | 5 | 54518526 | 54518526 | Human | | name |
| 597745324 | CV3607260 | single nucleotide variant | NM_001102575.2(SNX18):c.593G>T (p.Arg198Leu) | not specified [RCV004865647] | uncertain significance | 5 | 54518545 | 54518545 | Human | | name |
| 597741064 | CV3607265 | single nucleotide variant | NM_001102575.2(SNX18):c.298C>G (p.Pro100Ala) | not specified [RCV004864785] | uncertain significance | 5 | 54518250 | 54518250 | Human | | name |
| 597745335 | CV3607266 | single nucleotide variant | NM_001102575.2(SNX18):c.762C>A (p.Asp254Glu) | not specified [RCV004865649] | uncertain significance | 5 | 54518714 | 54518714 | Human | | name |
| 597741069 | CV3607267 | single nucleotide variant | NM_001102575.2(SNX18):c.920T>G (p.Val307Gly) | not specified [RCV004864786] | uncertain significance | 5 | 54518872 | 54518872 | Human | | name |
| 598171691 | CV3911681 | single nucleotide variant | NM_001102575.2(SNX18):c.901G>C (p.Val301Leu) | not specified [RCV005284916] | uncertain significance | 5 | 54518853 | 54518853 | Human | | name |
| 598171696 | CV3911682 | single nucleotide variant | NM_001102575.2(SNX18):c.569C>T (p.Ala190Val) | not specified [RCV005284917] | uncertain significance | 5 | 54518521 | 54518521 | Human | | name |
| 598171701 | CV3911683 | single nucleotide variant | NM_001102575.2(SNX18):c.394G>A (p.Ala132Thr) | not specified [RCV005284918] | uncertain significance | 5 | 54518346 | 54518346 | Human | | name |
| 598171713 | CV3911685 | single nucleotide variant | NM_001102575.2(SNX18):c.545C>G (p.Ser182Trp) | not specified [RCV005284920] | uncertain significance | 5 | 54518497 | 54518497 | Human | | name |
| 598171723 | CV3911687 | single nucleotide variant | NM_001102575.2(SNX18):c.333G>T (p.Gln111His) | not specified [RCV005284922] | uncertain significance | 5 | 54518285 | 54518285 | Human | | name |
| 598171734 | CV3911689 | single nucleotide variant | NM_001102575.2(SNX18):c.590C>G (p.Thr197Arg) | not specified [RCV005284924] | uncertain significance | 5 | 54518542 | 54518542 | Human | | name |
| 598171738 | CV3911690 | single nucleotide variant | NM_001102575.2(SNX18):c.364C>T (p.Pro122Ser) | not specified [RCV005284925] | uncertain significance | 5 | 54518316 | 54518316 | Human | | name |
| 150528021 | CV1301044 | microsatellite | NM_153816.6(SNX14):c.2259CAA[1] (p.Asn754del) | not provided [RCV001754904] | uncertain significance | 6 | 85517760 | 85517762 | Human | | name |
| 156222429 | CV2084203 | microsatellite | NM_153816.6(SNX14):c.1509CAG[1] (p.Ser504del) | not provided [RCV002875921] | uncertain significance | 6 | 85536886 | 85536888 | Human | | name |
| 156387353 | CV2221483 | single nucleotide variant | NM_001102575.2(SNX18):c.1138A>T (p.Thr380Ser) | not specified [RCV004096761] | uncertain significance | 5 | 54519090 | 54519090 | Human | | name |
| 156363512 | CV2265751 | single nucleotide variant | NM_001102575.2(SNX18):c.1231C>T (p.Leu411Phe) | not specified [RCV004124460] | uncertain significance | 5 | 54519183 | 54519183 | Human | | name |
| 156170754 | CV2277025 | single nucleotide variant | NM_001102575.2(SNX18):c.1124T>A (p.Phe375Tyr) | not specified [RCV004140345] | uncertain significance | 5 | 54519076 | 54519076 | Human | | name |
| 156165227 | CV2330033 | single nucleotide variant | NM_001102575.2(SNX18):c.1598C>T (p.Pro533Leu) | not specified [RCV004185525] | uncertain significance | 5 | 54519550 | 54519550 | Human | | name |
| 156167506 | CV2345308 | single nucleotide variant | NM_001102575.2(SNX18):c.1213G>C (p.Ala405Pro) | not specified [RCV004196043] | uncertain significance | 5 | 54519165 | 54519165 | Human | | name |
| 155906544 | CV2357342 | single nucleotide variant | NM_001102575.2(SNX18):c.1243C>T (p.Pro415Ser) | not specified [RCV004200231] | uncertain significance | 5 | 54519195 | 54519195 | Human | | name |
| 155998732 | CV2396290 | single nucleotide variant | NM_001102575.2(SNX18):c.1030T>G (p.Phe344Val) | not specified [RCV004240235] | uncertain significance | 5 | 54518982 | 54518982 | Human | | name |
| 401778419 | CV2714714 | single nucleotide variant | NM_001102575.2(SNX18):c.1657G>A (p.Val553Met) | not specified [RCV004320286] | uncertain significance | 5 | 54543214 | 54543214 | Human | | name |
| 401751877 | CV2727438 | single nucleotide variant | NM_001102575.2(SNX18):c.1117G>A (p.Asp373Asn) | not specified [RCV004327525] | uncertain significance | 5 | 54519069 | 54519069 | Human | | name |
| 405732723 | CV3322586 | single nucleotide variant | NM_001102575.2(SNX18):c.1252G>T (p.Ala418Ser) | not specified [RCV004464548] | uncertain significance | 5 | 54519204 | 54519204 | Human | | name |
| 405732731 | CV3322587 | single nucleotide variant | NM_001102575.2(SNX18):c.1265A>G (p.Gln422Arg) | not specified [RCV004464549] | uncertain significance | 5 | 54519217 | 54519217 | Human | | name |
| 407503948 | CV3484801 | single nucleotide variant | NM_001102575.2(SNX18):c.1705C>T (p.Arg569Cys) | not specified [RCV004670389] | uncertain significance | 5 | 54543262 | 54543262 | Human | | name |
| 407525309 | CV3484802 | single nucleotide variant | NM_001102575.2(SNX18):c.1609C>G (p.His537Asp) | not specified [RCV004679131] | uncertain significance | 5 | 54519561 | 54519561 | Human | | name |
| 407503962 | CV3484807 | single nucleotide variant | NM_001102575.2(SNX18):c.1832C>T (p.Thr611Ile) | not specified [RCV004670393] | uncertain significance | 5 | 54543389 | 54543389 | Human | | name |
| 597741050 | CV3607261 | single nucleotide variant | NM_001102575.2(SNX18):c.1447C>G (p.Gln483Glu) | not specified [RCV004864782] | uncertain significance | 5 | 54519399 | 54519399 | Human | | name |
| 597741055 | CV3607262 | single nucleotide variant | NM_001102575.2(SNX18):c.1082A>G (p.Asn361Ser) | not specified [RCV004864783] | uncertain significance | 5 | 54519034 | 54519034 | Human | | name |
| 597741060 | CV3607264 | single nucleotide variant | NM_001102575.2(SNX18):c.1552G>C (p.Val518Leu) | not specified [RCV004864784] | uncertain significance | 5 | 54519504 | 54519504 | Human | | name |
| 597745340 | CV3607268 | single nucleotide variant | NM_001102575.2(SNX18):c.1589C>G (p.Ala530Gly) | not specified [RCV004865650] | uncertain significance | 5 | 54519541 | 54519541 | Human | | name |
| 598171708 | CV3911684 | single nucleotide variant | NM_001102575.2(SNX18):c.1032C>G (p.Phe344Leu) | not specified [RCV005284919] | uncertain significance | 5 | 54518984 | 54518984 | Human | | name |
| 598171718 | CV3911686 | single nucleotide variant | NM_001102575.2(SNX18):c.1696A>G (p.Ile566Val) | not specified [RCV005284921] | uncertain significance | 5 | 54543253 | 54543253 | Human | | name |
| 598171728 | CV3911688 | single nucleotide variant | NM_001102575.2(SNX18):c.1360C>T (p.Arg454Cys) | not specified [RCV005284923] | uncertain significance | 5 | 54519312 | 54519312 | Human | | name |
| 598171743 | CV3911691 | single nucleotide variant | NM_001102575.2(SNX18):c.1678G>A (p.Val560Met) | not specified [RCV005284926] | uncertain significance | 5 | 54543235 | 54543235 | Human | | name |
| 598171749 | CV3911692 | single nucleotide variant | NM_001102575.2(SNX18):c.1589C>T (p.Ala530Val) | not specified [RCV005284927] | uncertain significance | 5 | 54519541 | 54519541 | Human | | name |
| 598171753 | CV3911693 | single nucleotide variant | NM_001102575.2(SNX18):c.1418G>A (p.Gly473Asp) | not specified [RCV005284928] | uncertain significance | 5 | 54519370 | 54519370 | Human | | name |
| 15128660 | CV709939 | single nucleotide variant | NM_001102575.2(SNX18):c.1409C>G (p.Ser470Cys) | not provided [RCV000964123] | benign | 5 | 54519361 | 54519361 | Human | | name |
| 156105898 | CV1992253 | indel | NM_153816.6(SNX14):c.193_194delinsCA (p.Phe65His) | not provided [RCV002622385] | uncertain significance | 6 | 85574325 | 85574326 | Human | | name |
| 10044328 | CV188149 | deletion | NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) | Autosomal recessive spinocerebellar ataxia 20 [RCV000170508]|not provided [RCV001093187] | pathogenic | 6 | 85508043 | 85508043 | Human | 1 | name |
| 597879677 | CV3783131 | deletion | NM_153816.6(SNX14):c.2398del (p.Arg799_Val800insTer) | not provided [RCV005123833] | pathogenic | 6 | 85514229 | 85514229 | Human | | name |
| 13838434 | CV589737 | indel | NM_153816.6(SNX14):c.1897_1898delinsTT (p.Ala633Leu) | not provided [RCV000735127] | uncertain significance | 6 | 85528359 | 85528360 | Human | | name |
| 408381085 | CV3523756 | microsatellite | NM_153816.6(SNX14):c.1098_1101del (p.Phe365_Cys366insTer) | not provided [RCV004766154] | pathogenic | 6 | 85547119 | 85547122 | Human | | name |
| 12791870 | CV362361 | insertion | NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) | Autosomal recessive spinocerebellar ataxia 20 [RCV000416984] | pathogenic | 6 | 85533701 | 85533702 | Human | 1 | name |
| 12895092 | CV406939 | deletion | NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) | Autosomal recessive spinocerebellar ataxia 20 [RCV003225944]|not provided [RCV000485240] | pathogenic|uncertain significance | 6 | 85507265 | 85507271 | Human | 1 | name |
| 405170003 | CV3149899 | duplication | NM_153816.6(SNX14):c.843_848dup (p.Ser282_Leu283insPheSer) | not provided [RCV003841370] | uncertain significance | 6 | 85548319 | 85548320 | Human | | name |
| 156191560 | CV2160891 | insertion | NM_013322.3(SNX10):c.85_86insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGGCATTCTT (p.Tyr29fs) | not provided [RCV003024148] | pathogenic | 7 | 26361023 | 26361024 | Human | | name |
| 597947244 | CV3841882 | insertion | NM_013322.3(SNX10):c.249_250insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGGGAGGCTGCAGTGAGCCGAGATGGCAGCAGCACCGTCCAGCCTTGGCTCGGCATCAGAGGGAGACCCTAAAAACCTGTTTTTC (p.Asn84fs) | not provided [RCV005189316] | pathogenic | 7 | 26365066 | 26365067 | Human | | name |
| 597883796 | CV3857987 | insertion | NM_153816.6(SNX14):c.597_598insGAGAAGGGTCGAAGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCCCGTCCCGCCATGGTGGCCGCGGCTGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCAGCAATG (p.Lys200delinsGluLysGlyArgArgArgArgGlyLeuGlySerValAlaTer) | not provided [RCV005199415] | pathogenic | 6 | 85558012 | 85558013 | Human | | name |