| 401962634 | CV2845280 | single nucleotide variant | NM_018075.5(ANO10):c.*10G>A | not provided [RCV003482741] | uncertain significance | 3 | 43366896 | 43366896 | Human | | name |
| 11598552 | CV290343 | single nucleotide variant | NM_018075.5(ANO10):c.-67C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000407123] | uncertain significance | 3 | 43621964 | 43621964 | Human | 1 | name |
| 11654079 | CV290351 | deletion | NM_018075.5(ANO10):c.-95del | Autosomal recessive cerebellar ataxia [RCV000314701] | uncertain significance | 3 | 43621992 | 43621992 | Human | 1 | name |
| 11590175 | CV291181 | single nucleotide variant | NM_018075.5(ANO10):c.*82G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000316574] | uncertain significance | 3 | 43366824 | 43366824 | Human | 1 | name |
| 11584745 | CV291241 | single nucleotide variant | NM_018075.5(ANO10):c.-90C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000276026] | benign|likely benign | 3 | 43621987 | 43621987 | Human | 1 | name |
| 11651179 | CV294492 | single nucleotide variant | NM_018075.5(ANO10):c.-74C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000297301] | uncertain significance | 3 | 43621971 | 43621971 | Human | 1 | name |
| 11585650 | CV294850 | single nucleotide variant | NM_018075.5(ANO10):c.*91G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000282612] | uncertain significance | 3 | 43366815 | 43366815 | Human | 1 | name |
| 11635634 | CV294852 | duplication | NM_018075.5(ANO10):c.*74dup | Autosomal recessive cerebellar ataxia [RCV000373655] | uncertain significance | 3 | 43366831 | 43366832 | Human | 1 | name |
| 11592259 | CV294937 | single nucleotide variant | NM_018075.5(ANO10):c.-31G>C | Autosomal recessive spinocerebellar ataxia 10 [RCV000337152] | uncertain significance | 3 | 43621928 | 43621928 | Human | 1 | name |
| 11593998 | CV294940 | single nucleotide variant | NM_018075.5(ANO10):c.-83T>C | Autosomal recessive spinocerebellar ataxia 10 [RCV000354540] | uncertain significance | 3 | 43621980 | 43621980 | Human | 1 | name |
| 11598146 | CV290298 | single nucleotide variant | NM_018075.5(ANO10):c.*447G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000401922]|not provided [RCV003437096] | benign|uncertain significance | 3 | 43366459 | 43366459 | Human | 1 | name |
| 11589416 | CV290299 | single nucleotide variant | NM_018075.5(ANO10):c.*444C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000310538] | benign|likely benign | 3 | 43366462 | 43366462 | Human | 1 | name |
| 11660466 | CV290367 | single nucleotide variant | NM_018075.5(ANO10):c.-102C>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000367158] | uncertain significance | 3 | 43621999 | 43621999 | Human | 1 | name |
| 11594782 | CV291143 | single nucleotide variant | NM_018075.5(ANO10):c.*438A>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000362937] | uncertain significance | 3 | 43366468 | 43366468 | Human | 1 | name |
| 11590865 | CV291144 | single nucleotide variant | NM_018075.5(ANO10):c.*372G>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000323362] | uncertain significance | 3 | 43366534 | 43366534 | Human | 1 | name |
| 11594656 | CV291170 | single nucleotide variant | NM_018075.5(ANO10):c.*368C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000361708] | uncertain significance | 3 | 43366538 | 43366538 | Human | 1 | name |
| 11595819 | CV291180 | single nucleotide variant | NM_018075.5(ANO10):c.*179C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000374711]|not provided [RCV001843512] | likely benign|uncertain significance | 3 | 43366727 | 43366727 | Human | 1 | name |
| 11654142 | CV294447 | single nucleotide variant | NM_018075.5(ANO10):c.*464C>T | Autosomal recessive cerebellar ataxia [RCV000314791] | uncertain significance | 3 | 43366442 | 43366442 | Human | 1 | name |
| 11583979 | CV294449 | single nucleotide variant | NM_018075.5(ANO10):c.*432G>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000270689] | benign|likely benign | 3 | 43366474 | 43366474 | Human | 1 | name |
| 11583134 | CV294450 | single nucleotide variant | NM_018075.5(ANO10):c.*246A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV000264710]|not provided [RCV001712082] | benign|likely benign | 3 | 43366660 | 43366660 | Human | 1 | name |
| 11660607 | CV294832 | single nucleotide variant | NM_018075.5(ANO10):c.*452A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV000368706] | uncertain significance | 3 | 43366454 | 43366454 | Human | 1 | name |
| 11590758 | CV294833 | single nucleotide variant | NM_018075.5(ANO10):c.*196C>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000322360]|not provided [RCV001672630] | benign|likely benign | 3 | 43366710 | 43366710 | Human | 1 | name |
| 11647177 | CV294944 | single nucleotide variant | NM_018075.4(ANO10):c.-140G>A | Autosomal recessive cerebellar ataxia [RCV000274894] | uncertain significance | 3 | 43622037 | 43622037 | Human | 1 | name |
| 28869561 | CV888890 | single nucleotide variant | NM_018075.5(ANO10):c.*569T>C | Autosomal recessive spinocerebellar ataxia 10 [RCV001144972] | uncertain significance | 3 | 43366337 | 43366337 | Human | 1 | name |
| 28869563 | CV888891 | single nucleotide variant | NM_018075.5(ANO10):c.*418T>C | Autosomal recessive spinocerebellar ataxia 10 [RCV001144973] | uncertain significance | 3 | 43366488 | 43366488 | Human | 1 | name |
| 28873816 | CV888892 | single nucleotide variant | NM_018075.5(ANO10):c.*237G>C | Autosomal recessive spinocerebellar ataxia 10 [RCV001146930] | uncertain significance | 3 | 43366669 | 43366669 | Human | 1 | name |
| 28873819 | CV888893 | single nucleotide variant | NM_018075.5(ANO10):c.*165G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV001146931]|not provided [RCV004694913] | uncertain significance | 3 | 43366741 | 43366741 | Human | 1 | name |
| 28873821 | CV888894 | single nucleotide variant | NM_018075.5(ANO10):c.*164C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV001146932] | uncertain significance | 3 | 43366742 | 43366742 | Human | 1 | name |
| 28870020 | CV888929 | single nucleotide variant | NM_018075.5(ANO10):c.-104C>T | Autosomal recessive spinocerebellar ataxia 10 [RCV001145183] | uncertain significance | 3 | 43622001 | 43622001 | Human | 1 | name |
| 150548164 | CV1314186 | single nucleotide variant | NM_018075.5(ANO10):c.473-2A>T | not provided [RCV002473296] | likely pathogenic | 3 | 43580474 | 43580474 | Human | | name |
| 150548165 | CV1314187 | single nucleotide variant | NM_018075.5(ANO10):c.139+1G>T | Autosomal recessive spinocerebellar ataxia 10 [RCV001785940]|not provided [RCV003772145] | likely pathogenic | 3 | 43605713 | 43605713 | Human | 1 | name |
| 10408385 | CV207077 | single nucleotide variant | NM_018075.5(ANO10):c.337+1G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000193666]|not provided [RCV003221843] | pathogenic|likely pathogenic | 3 | 43600383 | 43600383 | Human | 1 | name |
| 401726486 | CV2736130 | single nucleotide variant | NM_018075.5(ANO10):c.472+1G>T | not provided [RCV003312577] | pathogenic|likely pathogenic | 3 | 43598531 | 43598531 | Human | | name |
| 405210409 | CV2867714 | single nucleotide variant | NM_018075.5(ANO10):c.338-9T>A | not provided [RCV003552493] | likely benign | 3 | 43598675 | 43598675 | Human | | name |
| 402475174 | CV2916072 | single nucleotide variant | NM_018075.5(ANO10):c.593-9C>A | not provided [RCV003571305] | likely benign | 3 | 43577270 | 43577270 | Human | | name |
| 402496785 | CV2942797 | single nucleotide variant | NM_018075.5(ANO10):c.473-8C>T | not provided [RCV003661147] | likely benign | 3 | 43580480 | 43580480 | Human | | name |
| 405071207 | CV2944249 | single nucleotide variant | NM_018075.5(ANO10):c.473-4G>T | not provided [RCV003659433] | likely benign | 3 | 43580476 | 43580476 | Human | | name |
| 405193833 | CV2975153 | single nucleotide variant | NM_018075.5(ANO10):c.593-7A>G | not provided [RCV003677454] | likely benign | 3 | 43577268 | 43577268 | Human | | name |
| 404983092 | CV2979408 | single nucleotide variant | NM_018075.5(ANO10):c.140-1G>A | not provided [RCV003691457] | likely pathogenic | 3 | 43600582 | 43600582 | Human | | name |
| 405116662 | CV3020205 | single nucleotide variant | NM_018075.5(ANO10):c.338-5T>C | not provided [RCV003700313] | likely benign | 3 | 43598671 | 43598671 | Human | | name |
| 405122047 | CV3024705 | single nucleotide variant | NM_018075.5(ANO10):c.338-7A>G | not provided [RCV003700861] | likely benign | 3 | 43598673 | 43598673 | Human | | name |
| 405168381 | CV3122318 | single nucleotide variant | NM_018075.5(ANO10):c.473-7T>C | not provided [RCV003818907] | likely benign | 3 | 43580479 | 43580479 | Human | | name |
| 405160591 | CV3125050 | single nucleotide variant | NM_018075.5(ANO10):c.473-1G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV005038526]|not provided [RCV003818321] | likely pathogenic | 3 | 43580473 | 43580473 | Human | 1 | name |
| 405217466 | CV3160976 | single nucleotide variant | NM_018075.5(ANO10):c.338-6T>A | not provided [RCV003863038] | likely benign | 3 | 43598672 | 43598672 | Human | | name |
| 12894053 | CV406307 | single nucleotide variant | NM_018075.5(ANO10):c.338-2A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV005415571]|not provided [RCV000481306] | pathogenic|likely pathogenic|uncertain significance | 3 | 43598668 | 43598668 | Human | 1 | name |
| 13470950 | CV440793 | single nucleotide variant | NM_018075.5(ANO10):c.473-2A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV005034061]|not provided [RCV000518187] | pathogenic|likely pathogenic | 3 | 43580474 | 43580474 | Human | 1 | name |
| 28876102 | CV891643 | single nucleotide variant | NM_018075.5(ANO10):c.592+3A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV001147924] | uncertain significance | 3 | 43580350 | 43580350 | Human | 1 | name |
| 28880924 | CV891644 | single nucleotide variant | NM_018075.5(ANO10):c.473-6G>A | ANO10-related disorder [RCV003973107]|Autosomal recessive spinocerebellar ataxia 10 [RCV001149461]|not provided [RCV003546656] | likely benign|uncertain significance | 3 | 43580478 | 43580478 | Human | 1 | name , trait , alternate_id |
| 150529500 | CV1052848 | single nucleotide variant | NM_018075.5(ANO10):c.1163-9A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV001726493]|not provided [RCV005250185] | pathogenic|likely pathogenic | 3 | 43574873 | 43574873 | Human | 1 | name |
| 150418716 | CV1197092 | single nucleotide variant | NM_018075.5(ANO10):c.1219-5G>T | not provided [RCV001576860] | likely benign | 3 | 43565732 | 43565732 | Human | | name |
| 150515175 | CV1228755 | single nucleotide variant | NM_018075.5(ANO10):c.140-53G>T | not provided [RCV001638744] | benign | 3 | 43600634 | 43600634 | Human | | name |
| 150446194 | CV1278278 | deletion | NM_018075.5(ANO10):c.1219-6del | not provided [RCV001707421] | benign | 3 | 43565733 | 43565733 | Human | | name |
| 150515235 | CV1285473 | single nucleotide variant | NM_018075.5(ANO10):c.140-83G>A | not provided [RCV001722926] | benign | 3 | 43600664 | 43600664 | Human | | name |
| 152102624 | CV1667295 | single nucleotide variant | NM_018075.5(ANO10):c.1219-1G>T | Autosomal recessive spinocerebellar ataxia 10 [RCV002466744]|not provided [RCV002214282] | pathogenic | 3 | 43565728 | 43565728 | Human | 1 | name |
| 155795681 | CV1861442 | single nucleotide variant | NM_018075.5(ANO10):c.1218+5G>A | not provided [RCV002469724] | likely pathogenic | 3 | 43574804 | 43574804 | Human | | name |
| 10406529 | CV207076 | single nucleotide variant | NM_018075.5(ANO10):c.1669-2A>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000193009] | pathogenic | 3 | 43549850 | 43549850 | Human | 1 | name |
| 11551279 | CV251139 | single nucleotide variant | NM_018075.5(ANO10):c.1293+9A>G | Autosomal recessive spinocerebellar ataxia 10 [RCV000601670]|not provided [RCV000991520]|not specified [RCV000252832] | benign | 3 | 43565644 | 43565644 | Human | 1 | name |
| 402510809 | CV2858799 | single nucleotide variant | NM_018075.5(ANO10):c.1294-8C>T | not provided [RCV003547006] | likely benign | 3 | 43561410 | 43561410 | Human | | name |
| 402487339 | CV2861720 | single nucleotide variant | NM_018075.5(ANO10):c.1669-2A>G | not provided [RCV003544608] | likely pathogenic | 3 | 43549850 | 43549850 | Human | | name |
| 405018150 | CV2865994 | single nucleotide variant | NM_018075.5(ANO10):c.1915-7T>G | not provided [RCV003577351] | likely benign | 3 | 43366981 | 43366981 | Human | | name |
| 405064681 | CV2878986 | deletion | NM_018075.5(ANO10):c.1798-4del | not provided [RCV003548153] | benign | 3 | 43432731 | 43432731 | Human | | name |
| 405196573 | CV2879340 | single nucleotide variant | NM_018075.5(ANO10):c.139+18T>C | not provided [RCV003550900] | likely benign | 3 | 43605696 | 43605696 | Human | | name |
| 11593256 | CV290309 | single nucleotide variant | NM_018075.5(ANO10):c.1669-8T>G | Autosomal recessive spinocerebellar ataxia 10 [RCV000346987]|not provided [RCV000893276]|not specified [RCV001287978] | benign|likely benign|uncertain significance | 3 | 43549856 | 43549856 | Human | 1 | name |
| 11635225 | CV290322 | deletion | NM_018075.5(ANO10):c.1294-3del | Autosomal recessive cerebellar ataxia [RCV000318704]|not provided [RCV000927239] | likely benign|uncertain significance | 3 | 43561405 | 43561405 | Human | 1 | name |
| 11592846 | CV291194 | single nucleotide variant | NM_018075.5(ANO10):c.338-11T>C | Autosomal recessive spinocerebellar ataxia 10 [RCV000342889]|not provided [RCV003765994] | likely benign|uncertain significance | 3 | 43598677 | 43598677 | Human | 1 | name |
| 402484792 | CV2922345 | single nucleotide variant | NM_018075.5(ANO10):c.1162+7C>G | not provided [RCV003572386] | likely benign | 3 | 43576685 | 43576685 | Human | | name |
| 11644409 | CV294868 | single nucleotide variant | NM_018075.5(ANO10):c.1218+4A>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000259800] | uncertain significance | 3 | 43574805 | 43574805 | Human | 1 | name |
| 405160964 | CV2951298 | single nucleotide variant | NM_018075.5(ANO10):c.338-12G>C | not provided [RCV003670726] | likely benign | 3 | 43598678 | 43598678 | Human | | name |
| 405121057 | CV2953932 | single nucleotide variant | NM_018075.5(ANO10):c.1218+1G>C | not provided [RCV003667452] | pathogenic|likely pathogenic | 3 | 43574808 | 43574808 | Human | | name |
| 405158255 | CV2960919 | single nucleotide variant | NM_018075.5(ANO10):c.139+17C>G | not provided [RCV003670444] | likely benign | 3 | 43605697 | 43605697 | Human | | name |
| 405218039 | CV2972184 | single nucleotide variant | NM_018075.5(ANO10):c.139+11T>C | not provided [RCV003680143] | likely benign | 3 | 43605703 | 43605703 | Human | | name |
| 404984570 | CV2983134 | single nucleotide variant | NM_018075.5(ANO10):c.472+17A>G | not provided [RCV003691674] | likely benign | 3 | 43598515 | 43598515 | Human | | name |
| 404995991 | CV2992480 | duplication | NM_018075.5(ANO10):c.1163-9dup | not provided [RCV003692712] | likely benign | 3 | 43574872 | 43574873 | Human | | name |
| 402481581 | CV3001093 | single nucleotide variant | NM_018075.5(ANO10):c.592+13A>G | not provided [RCV003686617] | likely benign | 3 | 43580340 | 43580340 | Human | | name |
| 405248402 | CV3003652 | single nucleotide variant | NM_018075.5(ANO10):c.593-13G>A | not provided [RCV003721110] | likely benign | 3 | 43577274 | 43577274 | Human | | name |
| 405122896 | CV3004044 | single nucleotide variant | NM_018075.5(ANO10):c.338-10T>C | not provided [RCV003723930] | likely benign | 3 | 43598676 | 43598676 | Human | | name |
| 405033589 | CV3009372 | single nucleotide variant | NM_018075.5(ANO10):c.337+15C>G | not provided [RCV003695756] | likely benign | 3 | 43600369 | 43600369 | Human | | name |
| 402525312 | CV3011483 | single nucleotide variant | NM_018075.5(ANO10):c.140-10G>C | not provided [RCV003716619] | likely benign | 3 | 43600591 | 43600591 | Human | | name |
| 405241658 | CV3014534 | single nucleotide variant | NM_018075.5(ANO10):c.472+19C>T | not provided [RCV003719330] | likely benign | 3 | 43598513 | 43598513 | Human | | name |
| 405121830 | CV3024665 | single nucleotide variant | NM_018075.5(ANO10):c.1914+9A>G | not provided [RCV003700839] | likely benign | 3 | 43432602 | 43432602 | Human | | name |
| 405221988 | CV3038674 | single nucleotide variant | NM_018075.5(ANO10):c.140-20C>T | not provided [RCV003710110] | likely benign | 3 | 43600601 | 43600601 | Human | | name |
| 405007102 | CV3117574 | single nucleotide variant | NM_018075.5(ANO10):c.472+11A>G | not provided [RCV003828629] | likely benign | 3 | 43598521 | 43598521 | Human | | name |
| 405177784 | CV3123476 | single nucleotide variant | NM_018075.5(ANO10):c.1163-4T>G | not provided [RCV003819685] | likely benign | 3 | 43574868 | 43574868 | Human | | name |
| 405026746 | CV3129709 | single nucleotide variant | NM_018075.5(ANO10):c.140-16T>C | not provided [RCV003830307] | likely benign | 3 | 43600597 | 43600597 | Human | | name |
| 404992080 | CV3132339 | single nucleotide variant | NM_018075.5(ANO10):c.472+19C>G | not provided [RCV003827277] | likely benign | 3 | 43598513 | 43598513 | Human | | name |
| 404987100 | CV3135517 | single nucleotide variant | NM_018075.5(ANO10):c.338-14C>A | not provided [RCV003826812] | likely benign | 3 | 43598680 | 43598680 | Human | | name |
| 405226128 | CV3142475 | single nucleotide variant | NM_018075.5(ANO10):c.1162+7C>T | not provided [RCV003848014] | likely benign | 3 | 43576685 | 43576685 | Human | | name |
| 405158742 | CV3152654 | single nucleotide variant | NM_018075.5(ANO10):c.1476+9G>C | not provided [RCV003840581] | likely benign | 3 | 43561211 | 43561211 | Human | | name |
| 405234852 | CV3168518 | deletion | NM_018075.5(ANO10):c.592+10del | not provided [RCV003865992] | likely benign | 3 | 43580343 | 43580343 | Human | | name |
| 405211654 | CV3173496 | single nucleotide variant | NM_018075.5(ANO10):c.1162+1G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV004587575]|not provided [RCV003862245] | likely pathogenic | 3 | 43576691 | 43576691 | Human | 1 | name |
| 402517363 | CV3178936 | single nucleotide variant | NM_018075.5(ANO10):c.1163-7G>A | not provided [RCV003879369] | likely benign | 3 | 43574871 | 43574871 | Human | | name |
| 596942256 | CV3544035 | single nucleotide variant | NM_018075.5(ANO10):c.1293+1G>T | Autosomal recessive spinocerebellar ataxia 10 [RCV004800025] | likely pathogenic | 3 | 43565652 | 43565652 | Human | 1 | name |
| 597958460 | CV3814871 | single nucleotide variant | NM_018075.5(ANO10):c.1476+9G>A | not provided [RCV005162996] | likely benign | 3 | 43561211 | 43561211 | Human | | name |
| 597865037 | CV3823258 | single nucleotide variant | NM_018075.5(ANO10):c.473-20G>C | not provided [RCV005175608] | likely benign | 3 | 43580492 | 43580492 | Human | | name |
| 8568760 | CV40016 | single nucleotide variant | NM_018075.5(ANO10):c.1476+1G>T | Autosomal recessive spinocerebellar ataxia 10 [RCV000024053] | pathogenic|likely pathogenic | 3 | 43561219 | 43561219 | Human | 1 | name |
| 13808120 | CV576733 | single nucleotide variant | NM_018075.5(ANO10):c.1797+1G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV005034333]|not provided [RCV000710541] | likely pathogenic | 3 | 43549719 | 43549719 | Human | 1 | name |
| 28875830 | CV891642 | single nucleotide variant | NM_018075.5(ANO10):c.1914+3G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV001147836]|not provided [RCV002557166]|not specified [RCV001664706] | benign|likely benign|uncertain significance | 3 | 43432608 | 43432608 | Human | 1 | name |
| 150334629 | CV1171121 | single nucleotide variant | NM_018075.5(ANO10):c.592+264T>C | not provided [RCV001540149] | benign | 3 | 43580089 | 43580089 | Human | | name |
| 150409640 | CV1195943 | duplication | NM_018075.5(ANO10):c.1219-23dup | not provided [RCV001572746]|not specified [RCV001727876] | benign|likely benign | 3 | 43565732 | 43565733 | Human | | name |
| 150497567 | CV1219427 | deletion | NM_018075.5(ANO10):c.592+210del | not provided [RCV001620096] | benign | 3 | 43580143 | 43580143 | Human | | name |
| 150472379 | CV1236330 | single nucleotide variant | NM_018075.5(ANO10):c.1797+78G>T | not provided [RCV001651415] | benign | 3 | 43549642 | 43549642 | Human | | name |
| 150431879 | CV1236574 | single nucleotide variant | NM_018075.5(ANO10):c.593-228C>G | not provided [RCV001641978] | benign | 3 | 43577489 | 43577489 | Human | | name |
| 150455753 | CV1236786 | single nucleotide variant | NM_018075.5(ANO10):c.1915-79A>C | not provided [RCV001648522] | benign | 3 | 43367053 | 43367053 | Human | | name |
| 150490333 | CV1239096 | duplication | NM_018075.5(ANO10):c.592+193dup | not provided [RCV001654664] | benign | 3 | 43580142 | 43580143 | Human | | name |
| 150481468 | CV1243316 | single nucleotide variant | NM_018075.5(ANO10):c.-11-273A>G | not provided [RCV001652952] | benign | 3 | 43606136 | 43606136 | Human | | name |
| 150483498 | CV1245121 | single nucleotide variant | NM_018075.5(ANO10):c.-11-123G>A | not provided [RCV001653298] | benign | 3 | 43605986 | 43605986 | Human | | name |
| 150441409 | CV1246729 | single nucleotide variant | NM_018075.5(ANO10):c.593-227A>C | not provided [RCV001666383] | benign | 3 | 43577488 | 43577488 | Human | | name |
| 150470166 | CV1247942 | single nucleotide variant | NM_018075.5(ANO10):c.1219-96C>T | not provided [RCV001670978] | benign | 3 | 43565823 | 43565823 | Human | | name |
| 150481314 | CV1258896 | single nucleotide variant | NM_018075.5(ANO10):c.1669-65A>G | not provided [RCV001686026] | benign | 3 | 43549913 | 43549913 | Human | | name |
| 150441221 | CV1265749 | single nucleotide variant | NM_018075.5(ANO10):c.592+310C>G | not provided [RCV001690474] | benign | 3 | 43580043 | 43580043 | Human | | name |
| 150444143 | CV1266488 | single nucleotide variant | NM_018075.5(ANO10):c.1477-37T>G | not provided [RCV001690924] | benign | 3 | 43555506 | 43555506 | Human | | name |
| 150461235 | CV1270622 | single nucleotide variant | NM_018075.5(ANO10):c.338-323T>G | not provided [RCV001693612] | benign | 3 | 43598989 | 43598989 | Human | | name |
| 150481210 | CV1279692 | single nucleotide variant | NM_018075.5(ANO10):c.-11-218T>C | not provided [RCV001714801] | benign | 3 | 43606081 | 43606081 | Human | | name |
| 150473868 | CV1281622 | deletion | NM_018075.5(ANO10):c.592+330del | not provided [RCV001713600] | benign | 3 | 43580023 | 43580023 | Human | | name |
| 150499364 | CV1282688 | single nucleotide variant | NM_018075.5(ANO10):c.1797+70C>T | not provided [RCV001718178] | benign | 3 | 43549650 | 43549650 | Human | | name |
| 150503934 | CV1285856 | single nucleotide variant | NM_018075.5(ANO10):c.593-123G>A | not provided [RCV001719279] | benign | 3 | 43577384 | 43577384 | Human | | name |
| 150535794 | CV1312038 | single nucleotide variant | NM_018075.5(ANO10):c.1293+26C>T | not provided [RCV001779849] | likely benign | 3 | 43565627 | 43565627 | Human | | name |
| 402523431 | CV2867661 | single nucleotide variant | NM_018075.5(ANO10):c.1798-16T>C | not provided [RCV003547912] | likely benign | 3 | 43432743 | 43432743 | Human | | name |
| 402493801 | CV2887184 | single nucleotide variant | NM_018075.5(ANO10):c.1915-15G>A | not provided [RCV003573284] | likely benign | 3 | 43366989 | 43366989 | Human | | name |
| 11597327 | CV290317 | single nucleotide variant | NM_018075.5(ANO10):c.1477-14G>A | Autosomal recessive spinocerebellar ataxia 10 [RCV000392738]|not provided [RCV001643045] | benign|likely benign | 3 | 43555483 | 43555483 | Human | 1 | name |
| 405168410 | CV2911634 | single nucleotide variant | NM_018075.5(ANO10):c.1798-16T>G | not provided [RCV003562926] | likely benign | 3 | 43432743 | 43432743 | Human | | name |
| 405009649 | CV2923223 | single nucleotide variant | NM_018075.5(ANO10):c.1163-12T>C | not provided [RCV003576622] | likely benign | 3 | 43574876 | 43574876 | Human | | name |
| 402507022 | CV2924173 | single nucleotide variant | NM_018075.5(ANO10):c.1797+11A>G | not provided [RCV003574560] | likely benign | 3 | 43549709 | 43549709 | Human | | name |
| 405190414 | CV2924744 | single nucleotide variant | NM_018075.5(ANO10):c.1476+11A>G | not provided [RCV003564852] | likely benign | 3 | 43561209 | 43561209 | Human | | name |
| 405057052 | CV2932160 | single nucleotide variant | NM_018075.5(ANO10):c.1797+14T>G | not provided [RCV003580199] | likely benign | 3 | 43549706 | 43549706 | Human | | name |
| 402482792 | CV2940867 | single nucleotide variant | NM_018075.5(ANO10):c.1218+10G>A | not provided [RCV003659744] | likely benign | 3 | 43574799 | 43574799 | Human | | name |
| 405177747 | CV2952122 | single nucleotide variant | NM_018075.5(ANO10):c.1797+19T>G | not provided [RCV003675982] | likely benign | 3 | 43549701 | 43549701 | Human | | name |
| 405119280 | CV2957498 | single nucleotide variant | NM_018075.5(ANO10):c.1798-19T>A | not provided [RCV003667267] | likely benign | 3 | 43432746 | 43432746 | Human | | name |
| 405156776 | CV2960916 | single nucleotide variant | NM_018075.5(ANO10):c.1162+13G>A | not provided [RCV003670441] | likely benign | 3 | 43576679 | 43576679 | Human | | name |
| 405211044 | CV2966896 | single nucleotide variant | NM_018075.5(ANO10):c.1294-14G>A | not provided [RCV003679398] | likely benign | 3 | 43561416 | 43561416 | Human | | name |
| 405214393 | CV2971486 | single nucleotide variant | NM_018075.5(ANO10):c.1163-15G>C | not provided [RCV003679828] | likely benign | 3 | 43574879 | 43574879 | Human | | name |
| 402493285 | CV2981268 | single nucleotide variant | NM_018075.5(ANO10):c.1477-17C>T | not provided [RCV003713918] | likely benign | 3 | 43555486 | 43555486 | Human | | name |
| 402490130 | CV2995681 | single nucleotide variant | NM_018075.5(ANO10):c.1477-10A>G | not provided [RCV003687362] | likely benign | 3 | 43555479 | 43555479 | Human | | name |
| 405249827 | CV3000911 | single nucleotide variant | NM_018075.5(ANO10):c.1218+14T>G | not provided [RCV003721449] | likely benign | 3 | 43574795 | 43574795 | Human | | name |
| 405056231 | CV3023225 | single nucleotide variant | NM_018075.5(ANO10):c.1294-16G>C | not provided [RCV003697290] | likely benign | 3 | 43561418 | 43561418 | Human | | name |
| 405027400 | CV3076071 | single nucleotide variant | NM_018075.5(ANO10):c.1476+10A>G | not provided [RCV003738886] | likely benign | 3 | 43561210 | 43561210 | Human | | name |
| 405116964 | CV3115921 | single nucleotide variant | NM_018075.5(ANO10):c.1798-17C>T | not provided [RCV003814411] | likely benign | 3 | 43432744 | 43432744 | Human | | name |
| 405213457 | CV3127637 | deletion | NM_018075.5(ANO10):c.1668+20del | not provided [RCV003823685] | benign | 3 | 43555258 | 43555258 | Human | | name |
| 405019671 | CV3129153 | single nucleotide variant | NM_018075.5(ANO10):c.1162+12G>A | not provided [RCV003829716] | benign | 3 | 43576680 | 43576680 | Human | | name |
| 405197835 | CV3132094 | single nucleotide variant | NM_018075.5(ANO10):c.1163-13T>C | not provided [RCV003821687] | likely benign | 3 | 43574877 | 43574877 | Human | | name |
| 404991856 | CV3132318 | single nucleotide variant | NM_018075.5(ANO10):c.1668+11G>A | not provided [RCV003827256] | likely benign | 3 | 43555267 | 43555267 | Human | | name |
| 405035754 | CV3140502 | single nucleotide variant | NM_018075.5(ANO10):c.1218+12G>A | not provided [RCV003830984] | likely benign | 3 | 43574797 | 43574797 | Human | | name |
| 405075789 | CV3140755 | single nucleotide variant | NM_018075.5(ANO10):c.1476+18T>A | not provided [RCV003833718] | likely benign | 3 | 43561202 | 43561202 | Human | | name |
| 405038590 | CV3140922 | single nucleotide variant | NM_018075.5(ANO10):c.1294-12G>A | not provided [RCV003831215] | likely benign | 3 | 43561414 | 43561414 | Human | | name |
| 405144461 | CV3141429 | single nucleotide variant | NM_018075.5(ANO10):c.1477-19T>A | not provided [RCV003839545] | likely benign | 3 | 43555488 | 43555488 | Human | | name |
| 405195536 | CV3146415 | single nucleotide variant | NM_018075.5(ANO10):c.1218+18G>A | not provided [RCV003843770] | likely benign | 3 | 43574791 | 43574791 | Human | | name |
| 405171263 | CV3151692 | single nucleotide variant | NM_018075.5(ANO10):c.1476+17C>A | not provided [RCV003857843] | likely benign | 3 | 43561203 | 43561203 | Human | | name |
| 405230359 | CV3153866 | single nucleotide variant | NM_018075.5(ANO10):c.1218+11C>T | not provided [RCV003848734] | likely benign | 3 | 43574798 | 43574798 | Human | | name |
| 405145162 | CV3155851 | single nucleotide variant | NM_018075.5(ANO10):c.1915-10C>G | not provided [RCV003855893] | likely benign | 3 | 43366984 | 43366984 | Human | | name |
| 405183525 | CV3159743 | single nucleotide variant | NM_018075.5(ANO10):c.1797+16A>C | not provided [RCV003858994] | likely benign | 3 | 43549704 | 43549704 | Human | | name |
| 405149438 | CV3162786 | single nucleotide variant | NM_018075.5(ANO10):c.1218+19T>G | not provided [RCV003856229] | likely benign | 3 | 43574790 | 43574790 | Human | | name |
| 405237878 | CV3166970 | single nucleotide variant | NM_018075.5(ANO10):c.1798-12T>G | not provided [RCV003854225] | likely benign | 3 | 43432739 | 43432739 | Human | | name |
| 402494257 | CV3182941 | single nucleotide variant | NM_018075.5(ANO10):c.1477-20A>C | not provided [RCV003877249] | likely benign | 3 | 43555489 | 43555489 | Human | | name |
| 597866383 | CV3742452 | single nucleotide variant | NM_018075.5(ANO10):c.1915-20G>A | not provided [RCV005068068] | likely benign | 3 | 43366994 | 43366994 | Human | | name |
| 597877089 | CV3776097 | single nucleotide variant | NM_018075.5(ANO10):c.1914+18G>T | not provided [RCV005123625] | likely benign | 3 | 43432593 | 43432593 | Human | | name |
| 597850877 | CV3824637 | single nucleotide variant | NM_018075.5(ANO10):c.1294-16G>A | not provided [RCV005173676] | likely benign | 3 | 43561418 | 43561418 | Human | | name |
| 597894351 | CV3833538 | single nucleotide variant | NM_018075.5(ANO10):c.1798-12T>C | not provided [RCV005180230] | likely benign | 3 | 43432739 | 43432739 | Human | | name |
| 150464599 | CV1215286 | single nucleotide variant | NM_018075.5(ANO10):c.1476+129C>T | not provided [RCV001613985] | benign | 3 | 43561091 | 43561091 | Human | | name |
| 150433604 | CV1216965 | single nucleotide variant | NM_018075.5(ANO10):c.1797+238A>G | not provided [RCV001608867] | benign | 3 | 43549482 | 43549482 | Human | | name |
| 150517444 | CV1226894 | single nucleotide variant | NM_018075.5(ANO10):c.1219-231T>C | not provided [RCV001639989] | benign | 3 | 43565958 | 43565958 | Human | | name |
| 150502300 | CV1254485 | single nucleotide variant | NM_018075.5(ANO10):c.1914+237T>C | not provided [RCV001677187] | benign | 3 | 43432374 | 43432374 | Human | | name |
| 150494316 | CV1256442 | single nucleotide variant | NM_018075.5(ANO10):c.1915-270G>A | not provided [RCV001675407] | benign | 3 | 43367244 | 43367244 | Human | | name |
| 150441233 | CV1265525 | single nucleotide variant | NM_018075.5(ANO10):c.1293+283A>G | not provided [RCV001679228] | benign | 3 | 43565370 | 43565370 | Human | | name |
| 150479134 | CV1273415 | single nucleotide variant | NM_018075.5(ANO10):c.1293+282T>G | not provided [RCV001696619] | benign | 3 | 43565371 | 43565371 | Human | | name |
| 150476505 | CV1279268 | single nucleotide variant | NM_018075.5(ANO10):c.1219-277T>C | not provided [RCV001713992] | benign | 3 | 43566004 | 43566004 | Human | | name |
| 150499646 | CV1282874 | single nucleotide variant | NM_018075.5(ANO10):c.1914+189T>G | not provided [RCV001718227] | benign | 3 | 43432422 | 43432422 | Human | | name |
| 151863865 | CV1336736 | single nucleotide variant | NM_018075.5(ANO10):c.1293+182A>T | not provided [RCV002034787] | benign | 3 | 43565471 | 43565471 | Human | | name |
| 405112891 | CV2939063 | microsatellite | NM_018075.5(ANO10):c.1914+4AG[3] | not provided [RCV003666545] | likely benign | 3 | 43432603 | 43432604 | Human | | name |
| 150407817 | CV1182367 | single nucleotide variant | NM_018075.5(ANO10):c.1915-5852T>C | Autosomal recessive spinocerebellar ataxia 10 [RCV001554158]|not provided [RCV001638164] | benign | 3 | 43372826 | 43372826 | Human | 1 | name |
| 150476448 | CV1271337 | single nucleotide variant | NM_018075.5(ANO10):c.1669-1566A>G | not provided [RCV001696160] | benign | 3 | 43551414 | 43551414 | Human | | name |
| 401962677 | CV2845299 | single nucleotide variant | NM_018075.5(ANO10):c.1915-5883G>C | not provided [RCV003482760] | uncertain significance | 3 | 43372857 | 43372857 | Human | | name |
| 407459630 | CV3496849 | single nucleotide variant | NM_018075.5(ANO10):c.1669-1730G>T | Autism [RCV004698664] | uncertain significance | 3 | 43551578 | 43551578 | Human | 2 | name |
| 12905638 | CV413628 | single nucleotide variant | NM_018075.5(ANO10):c.1915-5816C>A | ANO10-related disorder [RCV003942605]|not provided [RCV000487775]|not specified [RCV004999526] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43372790 | 43372790 | Human | 1 | name , trait , alternate_id |
| 13480275 | CV440785 | single nucleotide variant | NM_018075.5(ANO10):c.1915-5863G>A | not provided [RCV000517229] | benign|likely benign|uncertain significance | 3 | 43372837 | 43372837 | Human | | name |
| 8578665 | CV113052 | single nucleotide variant | NM_018075.3(ANO10):c.1915-19587G>C | Lung cancer [RCV000093575] | uncertain significance | 3 | 43386561 | 43386561 | Human | | name |
| 8578666 | CV113053 | single nucleotide variant | NM_018075.3(ANO10):c.1914+21624C>G | Lung cancer [RCV000093576] | uncertain significance | 3 | 43410987 | 43410987 | Human | | name |
| 8578667 | CV113054 | single nucleotide variant | NM_018075.3(ANO10):c.1798-12024G>A | Lung cancer [RCV000093577] | uncertain significance | 3 | 43444751 | 43444751 | Human | | name |
| 405114871 | CV3134133 | microsatellite | NM_018075.5(ANO10):c.592+7_592+8del | not provided [RCV003836735] | likely benign | 3 | 43580345 | 43580346 | Human | | name |
| 150432177 | CV1246202 | single nucleotide variant | NM_018075.5(ANO10):c.5A>T (p.Lys2Ile) | not provided [RCV001663615] | uncertain significance | 3 | 43605848 | 43605848 | Human | | name |
| 150531261 | CV1310740 | duplication | NM_018075.5(ANO10):c.1219-8_1219-6dup | not provided [RCV001776474] | likely benign | 3 | 43565732 | 43565733 | Human | | name |
| 150531769 | CV1311319 | deletion | NM_018075.5(ANO10):c.1219-7_1219-6del | not provided [RCV001777054] | likely benign | 3 | 43565733 | 43565734 | Human | | name |
| 155799196 | CV1862395 | single nucleotide variant | NM_018075.5(ANO10):c.1A>G (p.Met1Val) | Autosomal recessive spinocerebellar ataxia 10 [RCV002471801] | likely pathogenic | 3 | 43605852 | 43605852 | Human | 1 | name |
| 155801144 | CV1864063 | single nucleotide variant | NM_018075.5(ANO10):c.45C>T (p.Phe15=) | not provided [RCV002474487] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 43605808 | 43605808 | Human | | name |
| 402494411 | CV2874378 | single nucleotide variant | NM_018075.5(ANO10):c.54G>A (p.Leu18=) | not provided [RCV003545244] | likely benign | 3 | 43605799 | 43605799 | Human | | name |
| 405085200 | CV3028328 | deletion | NM_018075.5(ANO10):c.12del (p.Leu5fs) | not provided [RCV003699350] | pathogenic | 3 | 43605841 | 43605841 | Human | | name |
| 405200880 | CV3041313 | deletion | NM_018075.5(ANO10):c.140-13_140-11del | not provided [RCV003707429] | likely benign | 3 | 43600592 | 43600594 | Human | | name |
| 405112460 | CV3118550 | deletion | NM_018075.5(ANO10):c.338-14_338-13del | not provided [RCV003813778] | likely benign | 3 | 43598679 | 43598680 | Human | | name |
| 405127388 | CV3132886 | single nucleotide variant | NM_018075.5(ANO10):c.99A>G (p.Glu33=) | not provided [RCV003838049] | likely benign | 3 | 43605754 | 43605754 | Human | | name |
| 405218464 | CV3143851 | single nucleotide variant | NM_018075.5(ANO10):c.66A>G (p.Glu22=) | not provided [RCV003846821] | likely benign | 3 | 43605787 | 43605787 | Human | | name |
| 402500299 | CV3170504 | microsatellite | NM_018075.5(ANO10):c.593-17_593-14del | not provided [RCV003877877] | likely benign | 3 | 43577275 | 43577278 | Human | | name |
| 407476491 | CV3494909 | single nucleotide variant | NM_018075.5(ANO10):c.1A>T (p.Met1Leu) | Autosomal recessive spinocerebellar ataxia 10 [RCV005038775]|not specified [RCV004690810] | pathogenic|uncertain significance | 3 | 43605852 | 43605852 | Human | 1 | name |
| 12742850 | CV359527 | single nucleotide variant | NM_018075.5(ANO10):c.2T>C (p.Met1Thr) | Autosomal recessive spinocerebellar ataxia 10 [RCV005033944]|not provided [RCV000414687] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 3 | 43605851 | 43605851 | Human | 1 | name |
| 597840737 | CV3756134 | single nucleotide variant | NM_018075.5(ANO10):c.52T>C (p.Leu18=) | not provided [RCV005086406] | likely benign | 3 | 43605801 | 43605801 | Human | | name |
| 11598554 | CV294886 | single nucleotide variant | NM_018075.5(ANO10):c.192A>G (p.Leu64=) | Autosomal recessive spinocerebellar ataxia 10 [RCV000407133]|not provided [RCV003765995] | likely benign|uncertain significance | 3 | 43600529 | 43600529 | Human | 1 | name |
| 405118319 | CV2949763 | single nucleotide variant | NM_018075.5(ANO10):c.225C>A (p.Ser75=) | not provided [RCV003667165] | likely benign | 3 | 43600496 | 43600496 | Human | | name |
| 405239509 | CV2997062 | single nucleotide variant | NM_018075.5(ANO10):c.234A>G (p.Arg78=) | not provided [RCV003718831] | likely benign | 3 | 43600487 | 43600487 | Human | | name |
| 404988546 | CV2998551 | single nucleotide variant | NM_018075.5(ANO10):c.255A>G (p.Ala85=) | not provided [RCV003692068] | likely benign | 3 | 43600466 | 43600466 | Human | | name |
| 405254971 | CV3000075 | deletion | NM_018075.5(ANO10):c.31del (p.Ser11fs) | not provided [RCV003723251] | pathogenic | 3 | 43605822 | 43605822 | Human | | name |
| 404977774 | CV3015246 | single nucleotide variant | NM_018075.5(ANO10):c.129A>G (p.Lys43=) | not provided [RCV003690612] | likely benign | 3 | 43605724 | 43605724 | Human | | name |
| 405203449 | CV3036471 | deletion | NM_018075.5(ANO10):c.38del (p.Ser13fs) | not provided [RCV003707698] | pathogenic | 3 | 43605815 | 43605815 | Human | | name |
| 405219354 | CV3063328 | single nucleotide variant | NM_018075.5(ANO10):c.216T>G (p.Val72=) | not provided [RCV003733076] | likely benign | 3 | 43600505 | 43600505 | Human | | name |
| 405121313 | CV3116590 | deletion | NM_018075.5(ANO10):c.1668+8_1668+11del | not provided [RCV003814892] | likely benign | 3 | 43555267 | 43555270 | Human | | name |
| 405095521 | CV3119002 | single nucleotide variant | NM_018075.5(ANO10):c.166T>C (p.Leu56=) | not provided [RCV003811453] | likely benign | 3 | 43600555 | 43600555 | Human | | name |
| 405028781 | CV3129856 | single nucleotide variant | NM_018075.5(ANO10):c.192A>T (p.Leu64=) | not provided [RCV003830454] | likely benign | 3 | 43600529 | 43600529 | Human | | name |
| 405125951 | CV3132663 | single nucleotide variant | NM_018075.5(ANO10):c.249A>G (p.Ala83=) | not provided [RCV003837826] | likely benign | 3 | 43600472 | 43600472 | Human | | name |
| 405015666 | CV3139004 | single nucleotide variant | NM_018075.5(ANO10):c.120A>C (p.Ile40=) | not provided [RCV003829341] | likely benign | 3 | 43605733 | 43605733 | Human | | name |
| 405212715 | CV3142706 | single nucleotide variant | NM_018075.5(ANO10):c.231T>A (p.Ile77=) | not provided [RCV003846063] | likely benign | 3 | 43600490 | 43600490 | Human | | name |
| 405194282 | CV3167564 | single nucleotide variant | NM_018075.5(ANO10):c.204C>T (p.Asn68=) | not provided [RCV003859970] | likely benign | 3 | 43600517 | 43600517 | Human | | name |
| 405234242 | CV3168383 | single nucleotide variant | NM_018075.5(ANO10):c.162A>G (p.Pro54=) | not provided [RCV003865857] | likely benign | 3 | 43600559 | 43600559 | Human | | name |
| 405263449 | CV3189733 | single nucleotide variant | NM_018075.5(ANO10):c.282T>C (p.Asp94=) | ANO10-related disorder [RCV003896782] | likely benign | 3 | 43600439 | 43600439 | Human | | name , trait , alternate_id |
| 597965525 | CV3751168 | single nucleotide variant | NM_018075.5(ANO10):c.177T>C (p.Tyr59=) | not provided [RCV005082730] | likely benign | 3 | 43600544 | 43600544 | Human | | name |
| 13215433 | CV428189 | microsatellite | NM_018075.5(ANO10):c.1798-12_1798-9del | not provided [RCV003718243]|not specified [RCV000502509] | likely benign|uncertain significance | 3 | 43432736 | 43432739 | Human | | name |
| 13213505 | CV428192 | deletion | NM_018075.5(ANO10):c.96del (p.Glu33fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV000500094]|not provided [RCV000518658] | pathogenic|likely pathogenic | 3 | 43605757 | 43605757 | Human | 1 | name |
| 13476929 | CV440796 | single nucleotide variant | NM_018075.5(ANO10):c.159A>G (p.Arg53=) | not provided [RCV003546568]|not specified [RCV000516238] | benign|likely benign | 3 | 43600562 | 43600562 | Human | | name |
| 150488559 | CV1237499 | duplication | NM_018075.5(ANO10):c.1219-23_1219-22dup | not provided [RCV001654348] | benign | 3 | 43565732 | 43565733 | Human | | name |
| 9686459 | CV171737 | duplication | NM_018075.5(ANO10):c.132dup (p.Asp45fs) | Abnormal central motor function [RCV001814069]|Autosomal recessive cerebellar ataxia [RCV000825557]|Autosomal recessive spinocerebellar ataxia 10 [RCV000149437]|not provided [RCV000311100] | pathogenic|likely pathogenic|not provided | 3 | 43605720 | 43605721 | Human | 4 | name |
| 155801139 | CV1864058 | single nucleotide variant | NM_018075.5(ANO10):c.86A>G (p.Glu29Gly) | Inborn genetic diseases [RCV004064266]|not provided [RCV002474482] | uncertain significance | 3 | 43605767 | 43605767 | Human | 1 | name |
| 155801757 | CV1864068 | single nucleotide variant | NM_018075.5(ANO10):c.946C>T (p.Leu316=) | not provided [RCV002475020] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 43576908 | 43576908 | Human | | name |
| 401926349 | CV2827311 | single nucleotide variant | NM_018075.5(ANO10):c.732G>A (p.Val244=) | not provided [RCV003437789] | likely benign | 3 | 43577122 | 43577122 | Human | | name |
| 401962707 | CV2845329 | single nucleotide variant | NM_018075.5(ANO10):c.966G>A (p.Val322=) | not provided [RCV003482790] | uncertain significance | 3 | 43576888 | 43576888 | Human | | name |
| 402487381 | CV2861730 | single nucleotide variant | NM_018075.5(ANO10):c.687G>A (p.Gly229=) | not provided [RCV003544612] | likely benign | 3 | 43577167 | 43577167 | Human | | name |
| 405211951 | CV2868102 | single nucleotide variant | NM_018075.5(ANO10):c.822A>G (p.Thr274=) | not provided [RCV003552673] | likely benign | 3 | 43577032 | 43577032 | Human | | name |
| 405208955 | CV2870669 | single nucleotide variant | NM_018075.5(ANO10):c.313A>C (p.Arg105=) | not provided [RCV003552318] | likely benign | 3 | 43600408 | 43600408 | Human | | name |
| 405066449 | CV2879235 | single nucleotide variant | NM_018075.5(ANO10):c.699C>T (p.Tyr233=) | not provided [RCV003548265] | likely benign | 3 | 43577155 | 43577155 | Human | | name |
| 405239065 | CV2885899 | deletion | NM_018075.5(ANO10):c.243del (p.Ala83fs) | not provided [RCV003556970] | pathogenic | 3 | 43600478 | 43600478 | Human | | name |
| 405053038 | CV2893768 | single nucleotide variant | NM_018075.5(ANO10):c.921C>T (p.Ser307=) | not provided [RCV003579928] | likely benign | 3 | 43576933 | 43576933 | Human | | name |
| 11588420 | CV290328 | single nucleotide variant | NM_018075.5(ANO10):c.74A>C (p.Gln25Pro) | Autosomal recessive spinocerebellar ataxia 10 [RCV000302734]|not provided [RCV000972700]|not specified [RCV001287982] | benign|likely benign | 3 | 43605779 | 43605779 | Human | 1 | name |
| 11586114 | CV291185 | single nucleotide variant | NM_018075.5(ANO10):c.486C>T (p.Leu162=) | Autosomal recessive spinocerebellar ataxia 10 [RCV000285562]|not provided [RCV000949685]|not specified [RCV001287980] | benign|likely benign | 3 | 43580459 | 43580459 | Human | 1 | name |
| 402504649 | CV2927586 | single nucleotide variant | NM_018075.5(ANO10):c.702G>A (p.Leu234=) | not provided [RCV003574339] | likely benign | 3 | 43577152 | 43577152 | Human | | name |
| 402488172 | CV2941499 | single nucleotide variant | NM_018075.5(ANO10):c.435T>G (p.Gly145=) | not provided [RCV003660249] | likely benign | 3 | 43598569 | 43598569 | Human | | name |
| 402486579 | CV2945015 | single nucleotide variant | NM_018075.5(ANO10):c.729C>T (p.Tyr243=) | not provided [RCV003660026] | likely benign | 3 | 43577125 | 43577125 | Human | | name |
| 11592981 | CV294877 | single nucleotide variant | NM_018075.5(ANO10):c.627T>C (p.Ala209=) | Autosomal recessive spinocerebellar ataxia 10 [RCV000344000]|not provided [RCV000972699]|not specified [RCV000518586] | benign|likely benign | 3 | 43577227 | 43577227 | Human | 1 | name |
| 405159320 | CV2950154 | single nucleotide variant | NM_018075.5(ANO10):c.360A>G (p.Thr120=) | not provided [RCV003674569] | likely benign | 3 | 43598644 | 43598644 | Human | | name |
| 405149981 | CV2956935 | single nucleotide variant | NM_018075.5(ANO10):c.753C>T (p.Leu251=) | not provided [RCV003669985] | likely benign | 3 | 43577101 | 43577101 | Human | | name |
| 405215004 | CV2967655 | single nucleotide variant | NM_018075.5(ANO10):c.441T>G (p.Pro147=) | not provided [RCV003679839] | likely benign | 3 | 43598563 | 43598563 | Human | | name |
| 405210106 | CV2970473 | single nucleotide variant | NM_018075.5(ANO10):c.519G>A (p.Leu173=) | not provided [RCV003679252] | likely benign | 3 | 43580426 | 43580426 | Human | | name |
| 405217246 | CV2972161 | single nucleotide variant | NM_018075.5(ANO10):c.513T>C (p.Phe171=) | not provided [RCV003680129] | likely benign | 3 | 43580432 | 43580432 | Human | | name |
| 405238198 | CV2986671 | single nucleotide variant | NM_018075.5(ANO10):c.936G>A (p.Leu312=) | not provided [RCV003683471] | likely benign | 3 | 43576918 | 43576918 | Human | | name |
| 402488623 | CV2999039 | single nucleotide variant | NM_018075.5(ANO10):c.741C>G (p.Ala247=) | not provided [RCV003687102] | likely benign | 3 | 43577113 | 43577113 | Human | | name |
| 405025705 | CV2999859 | single nucleotide variant | NM_018075.5(ANO10):c.969C>T (p.Cys323=) | not provided [RCV003695195] | likely benign | 3 | 43576885 | 43576885 | Human | | name |
| 402493414 | CV3008534 | deletion | NM_018075.5(ANO10):c.132del (p.Asp45fs) | not provided [RCV003687760] | pathogenic | 3 | 43605721 | 43605721 | Human | | name |
| 404979811 | CV3009722 | single nucleotide variant | NM_018075.5(ANO10):c.643T>C (p.Leu215=) | not provided [RCV003691036] | likely benign | 3 | 43577211 | 43577211 | Human | | name |
| 405123183 | CV3020859 | single nucleotide variant | NM_018075.5(ANO10):c.481T>C (p.Leu161=) | not provided [RCV003700882] | likely benign | 3 | 43580464 | 43580464 | Human | | name |
| 405169911 | CV3029378 | single nucleotide variant | NM_018075.5(ANO10):c.606C>A (p.Gly202=) | not provided [RCV003704600] | likely benign | 3 | 43577248 | 43577248 | Human | | name |
| 402481486 | CV3041625 | single nucleotide variant | NM_018075.5(ANO10):c.873C>G (p.Val291=) | not provided [RCV003712901] | likely benign | 3 | 43576981 | 43576981 | Human | | name |
| 405224996 | CV3042051 | single nucleotide variant | NM_018075.5(ANO10):c.600T>C (p.Ile200=) | not provided [RCV003710543] | likely benign | 3 | 43577254 | 43577254 | Human | | name |
| 405081329 | CV3046707 | single nucleotide variant | NM_018075.5(ANO10):c.450G>A (p.Lys150=) | not provided [RCV003717160] | likely benign | 3 | 43598554 | 43598554 | Human | | name |
| 405128187 | CV3053613 | single nucleotide variant | NM_018075.5(ANO10):c.924C>T (p.Tyr308=) | not provided [RCV003724458] | likely benign | 3 | 43576930 | 43576930 | Human | | name |
| 405209205 | CV3061965 | single nucleotide variant | NM_018075.5(ANO10):c.990G>A (p.Leu330=) | not provided [RCV003731748] | likely benign | 3 | 43576864 | 43576864 | Human | | name |
| 405238091 | CV3077863 | single nucleotide variant | NM_018075.5(ANO10):c.744G>A (p.Ser248=) | not provided [RCV003736291] | likely benign | 3 | 43577110 | 43577110 | Human | | name |
| 405112853 | CV3133663 | single nucleotide variant | NM_018075.5(ANO10):c.628C>T (p.Leu210=) | not provided [RCV003836456] | likely benign|conflicting interpretations of pathogenicity | 3 | 43577226 | 43577226 | Human | | name |
| 405116098 | CV3134272 | single nucleotide variant | NM_018075.5(ANO10):c.741C>T (p.Ala247=) | not provided [RCV003836874] | likely benign | 3 | 43577113 | 43577113 | Human | | name |
| 405091416 | CV3134473 | single nucleotide variant | NM_018075.5(ANO10):c.528T>C (p.Ser176=) | not provided [RCV003834819] | likely benign | 3 | 43580417 | 43580417 | Human | | name |
| 405074011 | CV3136525 | single nucleotide variant | NM_018075.5(ANO10):c.579G>A (p.Lys193=) | not provided [RCV003833615] | likely benign | 3 | 43580366 | 43580366 | Human | | name |
| 405187871 | CV3149207 | single nucleotide variant | NM_018075.5(ANO10):c.348T>C (p.Asp116=) | not provided [RCV003843133] | likely benign | 3 | 43598656 | 43598656 | Human | | name |
| 405222432 | CV3158265 | single nucleotide variant | NM_018075.5(ANO10):c.750C>T (p.Asn250=) | not provided [RCV003863761] | likely benign | 3 | 43577104 | 43577104 | Human | | name |
| 405247432 | CV3158692 | single nucleotide variant | NM_018075.5(ANO10):c.786G>A (p.Lys262=) | not provided [RCV003869034] | likely benign | 3 | 43577068 | 43577068 | Human | | name |
| 405195113 | CV3167667 | single nucleotide variant | NM_018075.5(ANO10):c.645G>A (p.Leu215=) | not provided [RCV003860073] | likely benign | 3 | 43577209 | 43577209 | Human | | name |
| 402484005 | CV3170968 | single nucleotide variant | NM_018075.5(ANO10):c.972C>G (p.Leu324=) | not provided [RCV003876171] | likely benign | 3 | 43576882 | 43576882 | Human | | name |
| 402466382 | CV3173642 | single nucleotide variant | NM_018075.5(ANO10):c.489G>A (p.Thr163=) | not provided [RCV003873116] | likely benign | 3 | 43580456 | 43580456 | Human | | name |
| 405253800 | CV3178652 | single nucleotide variant | NM_018075.5(ANO10):c.73C>T (p.Gln25Ter) | not provided [RCV003871254] | pathogenic | 3 | 43605780 | 43605780 | Human | | name |
| 405228599 | CV3180398 | single nucleotide variant | NM_018075.5(ANO10):c.738T>C (p.Phe246=) | not provided [RCV003864819] | likely benign | 3 | 43577116 | 43577116 | Human | | name |
| 15103858 | CV720447 | single nucleotide variant | NM_018075.5(ANO10):c.855G>A (p.Arg285=) | not provided [RCV000892764] | likely benign | 3 | 43576999 | 43576999 | Human | | name |
| 15153660 | CV734067 | single nucleotide variant | NM_018075.5(ANO10):c.978C>T (p.Leu326=) | not provided [RCV000901804] | likely benign | 3 | 43576876 | 43576876 | Human | | name |
| 41405978 | CV982500 | single nucleotide variant | NM_018075.5(ANO10):c.963C>T (p.Phe321=) | not provided [RCV003222292]|not specified [RCV001287986] | benign|likely benign | 3 | 43576891 | 43576891 | Human | | name |
| 41405975 | CV982502 | single nucleotide variant | NM_018075.5(ANO10):c.312C>G (p.Thr104=) | not provided [RCV001287979] | likely benign | 3 | 43600409 | 43600409 | Human | | name |
| 41405977 | CV982503 | single nucleotide variant | NM_018075.5(ANO10):c.88G>C (p.Glu30Gln) | Autosomal recessive spinocerebellar ataxia 10 [RCV005038025]|not provided [RCV001287985]|not specified [RCV004998786] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43605765 | 43605765 | Human | 1 | name |
| 126738040 | CV1000401 | single nucleotide variant | NM_018075.5(ANO10):c.1047C>T (p.Asn349=) | not provided [RCV001312014] | likely benign | 3 | 43576807 | 43576807 | Human | | name |
| 150447408 | CV1015180 | single nucleotide variant | NM_018075.5(ANO10):c.206T>A (p.Leu69Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV001647162] | pathogenic | 3 | 43600515 | 43600515 | Human | 1 | name |
| 150332211 | CV1163734 | single nucleotide variant | NM_018075.5(ANO10):c.218G>A (p.Gly73Asp) | Autosomal recessive spinocerebellar ataxia 10 [RCV001528140] | uncertain significance | 3 | 43600503 | 43600503 | Human | 1 | name |
| 151350603 | CV1325729 | single nucleotide variant | NM_018075.5(ANO10):c.140G>T (p.Gly47Val) | not specified [RCV001815074] | uncertain significance | 3 | 43600581 | 43600581 | Human | | name |
| 401950478 | CV1667294 | single nucleotide variant | NM_018075.5(ANO10):c.1474T>C (p.Leu492=) | not provided [RCV002214281]|not specified [RCV004999674] | likely benign | 3 | 43561222 | 43561222 | Human | | name |
| 155801142 | CV1864061 | single nucleotide variant | NM_018075.5(ANO10):c.1137T>C (p.Tyr379=) | not provided [RCV002474485] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 43576717 | 43576717 | Human | | name |
| 156277465 | CV2330837 | single nucleotide variant | NM_018075.5(ANO10):c.280G>A (p.Asp94Asn) | Inborn genetic diseases [RCV002960735] | uncertain significance | 3 | 43600441 | 43600441 | Human | 1 | name |
| 243063402 | CV2411719 | single nucleotide variant | NM_018075.5(ANO10):c.130A>G (p.Lys44Glu) | Autosomal recessive spinocerebellar ataxia 10 [RCV003141442] | uncertain significance | 3 | 43605723 | 43605723 | Human | 1 | name |
| 401767648 | CV2729815 | single nucleotide variant | NM_018075.5(ANO10):c.278A>G (p.Asn93Ser) | Inborn genetic diseases [RCV003302284] | uncertain significance | 3 | 43600443 | 43600443 | Human | 1 | name |
| 401724125 | CV2737985 | single nucleotide variant | NM_018075.5(ANO10):c.101G>A (p.Trp34Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV003315157] | likely pathogenic | 3 | 43605752 | 43605752 | Human | 1 | name |
| 401891640 | CV2779268 | single nucleotide variant | NM_018075.5(ANO10):c.129A>C (p.Lys43Asn) | Inborn genetic diseases [RCV003355011] | uncertain significance | 3 | 43605724 | 43605724 | Human | 1 | name |
| 401926348 | CV2827310 | single nucleotide variant | NM_018075.5(ANO10):c.1683G>A (p.Thr561=) | not provided [RCV003437788] | likely benign | 3 | 43549834 | 43549834 | Human | | name |
| 402487571 | CV2861762 | single nucleotide variant | NM_018075.5(ANO10):c.1461A>G (p.Glu487=) | not provided [RCV003544630] | likely benign | 3 | 43561235 | 43561235 | Human | | name |
| 402510668 | CV2862110 | deletion | NM_018075.5(ANO10):c.440del (p.Pro147fs) | not provided [RCV003546956] | pathogenic | 3 | 43598564 | 43598564 | Human | | name |
| 402523479 | CV2867670 | single nucleotide variant | NM_018075.5(ANO10):c.1893T>A (p.Ser631=) | not provided [RCV003547915] | likely benign | 3 | 43432632 | 43432632 | Human | | name |
| 402498246 | CV2871725 | single nucleotide variant | NM_018075.5(ANO10):c.1356T>G (p.Pro452=) | not provided [RCV003545611] | likely benign | 3 | 43561340 | 43561340 | Human | | name |
| 405215951 | CV2876237 | single nucleotide variant | NM_018075.5(ANO10):c.1050C>T (p.Ser350=) | not provided [RCV003553197] | likely benign | 3 | 43576804 | 43576804 | Human | | name |
| 405214558 | CV2879570 | single nucleotide variant | NM_018075.5(ANO10):c.1408T>C (p.Leu470=) | not provided [RCV003552976] | likely benign | 3 | 43561288 | 43561288 | Human | | name |
| 405226010 | CV2882281 | single nucleotide variant | NM_018075.5(ANO10):c.1800C>T (p.His600=) | not provided [RCV003554670] | likely benign | 3 | 43432725 | 43432725 | Human | | name |
| 405110103 | CV2898911 | single nucleotide variant | NM_018075.5(ANO10):c.1101C>T (p.Ala367=) | not provided [RCV003557755] | likely benign | 3 | 43576753 | 43576753 | Human | | name |
| 402471455 | CV2904590 | single nucleotide variant | NM_018075.5(ANO10):c.1740G>C (p.Val580=) | not provided [RCV003570585] | likely benign | 3 | 43549777 | 43549777 | Human | | name |
| 402473277 | CV2908877 | single nucleotide variant | NM_018075.5(ANO10):c.1806C>T (p.Leu602=) | not provided [RCV003570955] | likely benign | 3 | 43432719 | 43432719 | Human | | name |
| 11652633 | CV291183 | single nucleotide variant | NM_018075.5(ANO10):c.1416A>C (p.Ala472=) | Autosomal recessive spinocerebellar ataxia 10 [RCV000306066] | uncertain significance | 3 | 43561280 | 43561280 | Human | 1 | name |
| 402475908 | CV2916837 | single nucleotide variant | NM_018075.5(ANO10):c.1473T>C (p.Tyr491=) | not provided [RCV003571419] | likely benign | 3 | 43561223 | 43561223 | Human | | name |
| 402464450 | CV2920074 | deletion | NM_018075.5(ANO10):c.312del (p.Arg105fs) | not provided [RCV003568964] | pathogenic | 3 | 43600409 | 43600409 | Human | | name |
| 405214417 | CV2925078 | single nucleotide variant | NM_018075.5(ANO10):c.1431A>T (p.Thr477=) | not provided [RCV003567552] | likely benign | 3 | 43561265 | 43561265 | Human | | name |
| 405007607 | CV2926781 | single nucleotide variant | NM_018075.5(ANO10):c.1479C>T (p.Gly493=) | not provided [RCV003576465] | likely benign | 3 | 43555467 | 43555467 | Human | | name |
| 405008194 | CV2926866 | single nucleotide variant | NM_018075.5(ANO10):c.1185C>T (p.Ala395=) | not provided [RCV003576510] | likely benign | 3 | 43574842 | 43574842 | Human | | name |
| 405013211 | CV2930193 | single nucleotide variant | NM_018075.5(ANO10):c.1245A>G (p.Ser415=) | not provided [RCV003576916] | likely benign | 3 | 43565701 | 43565701 | Human | | name |
| 402503471 | CV2933381 | duplication | NM_018075.5(ANO10):c.616dup (p.Glu206fs) | not provided [RCV003574234] | pathogenic | 3 | 43577237 | 43577238 | Human | | name |
| 402481980 | CV2940848 | single nucleotide variant | NM_018075.5(ANO10):c.1377T>C (p.His459=) | not provided [RCV003659731] | likely benign | 3 | 43561319 | 43561319 | Human | | name |
| 11597095 | CV294457 | single nucleotide variant | NM_018075.5(ANO10):c.1683G>C (p.Thr561=) | Autosomal recessive spinocerebellar ataxia 10 [RCV000390196]|not provided [RCV000885999] | benign|likely benign|uncertain significance | 3 | 43549834 | 43549834 | Human | 1 | name |
| 11662015 | CV294884 | deletion | NM_018075.5(ANO10):c.616del (p.Glu206fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV000382211] | uncertain significance | 3 | 43577238 | 43577238 | Human | | name |
| 405115792 | CV2951532 | single nucleotide variant | NM_018075.5(ANO10):c.1632A>G (p.Pro544=) | not provided [RCV003670879] | likely benign | 3 | 43555314 | 43555314 | Human | | name |
| 405131799 | CV2959127 | single nucleotide variant | NM_018075.5(ANO10):c.1740G>A (p.Val580=) | not provided [RCV003668444] | likely benign | 3 | 43549777 | 43549777 | Human | | name |
| 405134034 | CV2959344 | single nucleotide variant | NM_018075.5(ANO10):c.1872A>G (p.Leu624=) | not provided [RCV003668575] | likely benign | 3 | 43432653 | 43432653 | Human | | name |
| 405229583 | CV2968016 | single nucleotide variant | NM_018075.5(ANO10):c.1507C>T (p.Leu503=) | not provided [RCV003682029] | likely benign | 3 | 43555439 | 43555439 | Human | | name |
| 405198023 | CV2973009 | single nucleotide variant | NM_018075.5(ANO10):c.1548A>G (p.Pro516=) | not provided [RCV003677884] | likely benign | 3 | 43555398 | 43555398 | Human | | name |
| 402507743 | CV2982518 | single nucleotide variant | NM_018075.5(ANO10):c.1545C>T (p.Tyr515=) | not provided [RCV003689148] | likely benign | 3 | 43555401 | 43555401 | Human | | name |
| 402509328 | CV2994609 | single nucleotide variant | NM_018075.5(ANO10):c.1308C>G (p.Leu436=) | not provided [RCV003689399] | likely benign | 3 | 43561388 | 43561388 | Human | | name |
| 402519582 | CV3000210 | single nucleotide variant | NM_018075.5(ANO10):c.1674T>A (p.Ala558=) | not provided [RCV003716325] | likely benign | 3 | 43549843 | 43549843 | Human | | name |
| 405121262 | CV3004005 | single nucleotide variant | NM_018075.5(ANO10):c.1584T>G (p.Thr528=) | not provided [RCV003723916] | likely benign | 3 | 43555362 | 43555362 | Human | | name |
| 405121369 | CV3004036 | single nucleotide variant | NM_018075.5(ANO10):c.1083G>C (p.Val361=) | not provided [RCV003723927] | likely benign | 3 | 43576771 | 43576771 | Human | | name |
| 405121668 | CV3004119 | single nucleotide variant | NM_018075.5(ANO10):c.1008C>T (p.Tyr336=) | not provided [RCV003723956] | likely benign | 3 | 43576846 | 43576846 | Human | | name |
| 404977660 | CV3015223 | single nucleotide variant | NM_018075.5(ANO10):c.1731A>G (p.Ser577=) | not provided [RCV003690595] | likely benign | 3 | 43549786 | 43549786 | Human | | name |
| 405174697 | CV3023491 | single nucleotide variant | NM_018075.5(ANO10):c.1434A>G (p.Leu478=) | not provided [RCV003704991] | likely benign | 3 | 43561262 | 43561262 | Human | | name |
| 405173987 | CV3026985 | single nucleotide variant | NM_018075.5(ANO10):c.1320C>G (p.Ser440=) | not provided [RCV003704932] | likely benign | 3 | 43561376 | 43561376 | Human | | name |
| 405178851 | CV3027509 | single nucleotide variant | NM_018075.5(ANO10):c.1452G>A (p.Leu484=) | not provided [RCV003705268] | likely benign | 3 | 43561244 | 43561244 | Human | | name |
| 405198802 | CV3032765 | single nucleotide variant | NM_018075.5(ANO10):c.1077G>A (p.Leu359=) | not provided [RCV003707171] | likely benign | 3 | 43576777 | 43576777 | Human | | name |
| 405071773 | CV3034437 | single nucleotide variant | NM_018075.5(ANO10):c.1197T>C (p.His399=) | not provided [RCV003698364] | likely benign | 3 | 43574830 | 43574830 | Human | | name |
| 405218702 | CV3034937 | single nucleotide variant | NM_018075.5(ANO10):c.1443A>G (p.Gln481=) | not provided [RCV003709659] | likely benign | 3 | 43561253 | 43561253 | Human | | name |
| 405184524 | CV3040252 | single nucleotide variant | NM_018075.5(ANO10):c.1449C>T (p.Ile483=) | not provided [RCV003705886] | likely benign | 3 | 43561247 | 43561247 | Human | | name |
| 405224506 | CV3058137 | single nucleotide variant | NM_018075.5(ANO10):c.1521T>C (p.Tyr507=) | not provided [RCV003733813]|not specified [RCV005000015] | likely benign | 3 | 43555425 | 43555425 | Human | | name |
| 405226306 | CV3059346 | single nucleotide variant | NM_018075.5(ANO10):c.1932C>T (p.Thr644=) | not provided [RCV003734111] | likely benign | 3 | 43366957 | 43366957 | Human | | name |
| 405202733 | CV3067022 | single nucleotide variant | NM_018075.5(ANO10):c.1266C>G (p.Val422=) | not provided [RCV003730882] | likely benign | 3 | 43565680 | 43565680 | Human | | name |
| 405245980 | CV3075663 | single nucleotide variant | NM_018075.5(ANO10):c.1143C>G (p.Ala381=) | not provided [RCV003738609] | likely benign | 3 | 43576711 | 43576711 | Human | | name |
| 405211892 | CV3117880 | single nucleotide variant | NM_018075.5(ANO10):c.1281G>A (p.Lys427=) | not provided [RCV003823479] | likely benign | 3 | 43565665 | 43565665 | Human | | name |
| 404981648 | CV3124836 | single nucleotide variant | NM_018075.5(ANO10):c.1926C>T (p.Leu642=) | ANO10-related disorder [RCV003909172]|not provided [RCV003826183] | likely benign | 3 | 43366963 | 43366963 | Human | 1 | name , trait , alternate_id |
| 405140097 | CV3125790 | single nucleotide variant | NM_018075.5(ANO10):c.1038A>G (p.Leu346=) | not provided [RCV003816705] | likely benign | 3 | 43576816 | 43576816 | Human | | name |
| 405196207 | CV3128764 | single nucleotide variant | NM_018075.5(ANO10):c.1143C>T (p.Ala381=) | not provided [RCV003821502] | likely benign | 3 | 43576711 | 43576711 | Human | | name |
| 405085586 | CV3137728 | single nucleotide variant | NM_018075.5(ANO10):c.1770C>T (p.Asp590=) | not provided [RCV003834437] | likely benign | 3 | 43549747 | 43549747 | Human | | name |
| 405106004 | CV3139892 | single nucleotide variant | NM_018075.5(ANO10):c.1563T>C (p.Phe521=) | not provided [RCV003835303] | likely benign | 3 | 43555383 | 43555383 | Human | | name |
| 405201466 | CV3143555 | single nucleotide variant | NM_018075.5(ANO10):c.1311A>G (p.Leu437=) | not provided [RCV003844541] | likely benign | 3 | 43561385 | 43561385 | Human | | name |
| 405232735 | CV3144935 | deletion | NM_018075.5(ANO10):c.542del (p.Lys181fs) | not provided [RCV003853192] | pathogenic | 3 | 43580403 | 43580403 | Human | | name |
| 405160445 | CV3152989 | single nucleotide variant | NM_018075.5(ANO10):c.1302C>T (p.Ala434=) | not provided [RCV003840724] | likely benign | 3 | 43561394 | 43561394 | Human | | name |
| 405161733 | CV3153079 | single nucleotide variant | NM_018075.5(ANO10):c.1174T>C (p.Leu392=) | not provided [RCV003840814] | likely benign | 3 | 43574853 | 43574853 | Human | | name |
| 405191242 | CV3156981 | single nucleotide variant | NM_018075.5(ANO10):c.1332C>T (p.Asn444=) | not provided [RCV003859669] | likely benign | 3 | 43561364 | 43561364 | Human | | name |
| 405159244 | CV3159865 | single nucleotide variant | NM_018075.5(ANO10):c.1566T>C (p.Ala522=) | not provided [RCV003856936] | likely benign | 3 | 43555380 | 43555380 | Human | | name |
| 405201830 | CV3165009 | single nucleotide variant | NM_018075.5(ANO10):c.1879C>T (p.Leu627=) | not provided [RCV003860870] | likely benign | 3 | 43432646 | 43432646 | Human | | name |
| 405204985 | CV3165536 | single nucleotide variant | NM_018075.5(ANO10):c.1716G>C (p.Ala572=) | not provided [RCV003861202] | likely benign | 3 | 43549801 | 43549801 | Human | | name |
| 405254597 | CV3175429 | single nucleotide variant | NM_018075.5(ANO10):c.1647A>G (p.Ser549=) | not provided [RCV003871696] | likely benign | 3 | 43555299 | 43555299 | Human | | name |
| 405229675 | CV3176643 | single nucleotide variant | NM_018075.5(ANO10):c.1596A>C (p.Ser532=) | not provided [RCV003865017] | likely benign | 3 | 43555350 | 43555350 | Human | | name |
| 407521327 | CV3458358 | single nucleotide variant | NM_018075.5(ANO10):c.289A>G (p.Met97Val) | Inborn genetic diseases [RCV004652491] | uncertain significance | 3 | 43600432 | 43600432 | Human | 1 | name |
| 407475223 | CV3494647 | single nucleotide variant | NM_018075.5(ANO10):c.220G>C (p.Ala74Pro) | not specified [RCV004690546] | uncertain significance | 3 | 43600501 | 43600501 | Human | | name |
| 597716652 | CV3717492 | duplication | NM_018075.5(ANO10):c.580dup (p.Tyr194fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV005035320] | likely pathogenic | 3 | 43580364 | 43580365 | Human | 1 | name |
| 597716660 | CV3717493 | single nucleotide variant | NM_018075.5(ANO10):c.145C>T (p.Gln49Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV005035321] | likely pathogenic | 3 | 43600576 | 43600576 | Human | 1 | name |
| 597845639 | CV3736357 | single nucleotide variant | NM_018075.5(ANO10):c.1905C>T (p.Leu635=) | not provided [RCV005059935] | likely benign | 3 | 43432620 | 43432620 | Human | | name |
| 597936035 | CV3764769 | single nucleotide variant | NM_018075.5(ANO10):c.1605A>G (p.Leu535=) | not provided [RCV005117468] | likely benign | 3 | 43555341 | 43555341 | Human | | name |
| 597929297 | CV3779781 | single nucleotide variant | NM_018075.5(ANO10):c.1065C>T (p.Thr355=) | not provided [RCV005116310] | likely benign | 3 | 43576789 | 43576789 | Human | | name |
| 597902222 | CV3792728 | single nucleotide variant | NM_018075.5(ANO10):c.1752T>C (p.Phe584=) | not provided [RCV005152880] | likely benign | 3 | 43549765 | 43549765 | Human | | name |
| 597908303 | CV3806098 | single nucleotide variant | NM_018075.5(ANO10):c.1089C>T (p.Ser363=) | not provided [RCV005153856] | likely benign | 3 | 43576765 | 43576765 | Human | | name |
| 597954333 | CV3812702 | single nucleotide variant | NM_018075.5(ANO10):c.1389G>C (p.Val463=) | not provided [RCV005161976] | likely benign | 3 | 43561307 | 43561307 | Human | | name |
| 597895489 | CV3833687 | single nucleotide variant | NM_018075.5(ANO10):c.1389G>A (p.Val463=) | not provided [RCV005180379] | likely benign | 3 | 43561307 | 43561307 | Human | | name |
| 13478504 | CV440795 | single nucleotide variant | NM_018075.5(ANO10):c.224C>T (p.Ser75Phe) | not provided [RCV000516700] | uncertain significance | 3 | 43600497 | 43600497 | Human | | name |
| 13480575 | CV443459 | single nucleotide variant | NM_018075.5(ANO10):c.124A>T (p.Lys42Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV004689777]|not provided [RCV000521272] | pathogenic|likely pathogenic | 3 | 43605729 | 43605729 | Human | 1 | name |
| 15198035 | CV698098 | single nucleotide variant | NM_018075.5(ANO10):c.1011C>T (p.Phe337=) | ANO10-related disorder [RCV003978300]|not provided [RCV000956634] | likely benign | 3 | 43576843 | 43576843 | Human | 1 | name , trait , alternate_id |
| 15098510 | CV748271 | single nucleotide variant | NM_018075.5(ANO10):c.1128C>T (p.Leu376=) | not provided [RCV000914266] | likely benign | 3 | 43576726 | 43576726 | Human | | name |
| 21072740 | CV793008 | single nucleotide variant | NM_018075.5(ANO10):c.1962C>T (p.Ser654=) | not provided [RCV000991524] | likely benign | 3 | 43366927 | 43366927 | Human | | name |
| 21072731 | CV793010 | single nucleotide variant | NM_018075.5(ANO10):c.1716G>A (p.Ala572=) | not provided [RCV000991522] | likely benign | 3 | 43549801 | 43549801 | Human | | name |
| 28875825 | CV888895 | single nucleotide variant | NM_018075.5(ANO10):c.1923G>A (p.Lys641=) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147835]|not provided [RCV003727914] | likely benign|uncertain significance | 3 | 43366966 | 43366966 | Human | 1 | name |
| 28875834 | CV888896 | single nucleotide variant | NM_018075.5(ANO10):c.1710C>T (p.Asn570=) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147837]|not provided [RCV003718363] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43549807 | 43549807 | Human | 1 | name |
| 28869794 | CV888899 | single nucleotide variant | NM_018075.5(ANO10):c.1401G>T (p.Val467=) | Autosomal recessive spinocerebellar ataxia 10 [RCV001145078]|not provided [RCV003433034]|not specified [RCV001664705] | likely benign|uncertain significance | 3 | 43561295 | 43561295 | Human | 1 | name |
| 28880927 | CV888907 | single nucleotide variant | NM_018075.5(ANO10):c.236T>G (p.Met79Arg) | Autosomal recessive spinocerebellar ataxia 10 [RCV001149462]|Inborn genetic diseases [RCV002557214]|not provided [RCV001664708] | uncertain significance | 3 | 43600485 | 43600485 | Human | 2 | name |
| 28880932 | CV888908 | single nucleotide variant | NM_018075.5(ANO10):c.127A>G (p.Lys43Glu) | Autosomal recessive spinocerebellar ataxia 10 [RCV001149463] | uncertain significance | 3 | 43605726 | 43605726 | Human | 1 | name |
| 38462093 | CV918831 | single nucleotide variant | NM_018075.5(ANO10):c.223T>A (p.Ser75Thr) | Autosomal recessive spinocerebellar ataxia 10 [RCV001198167]|Inborn genetic diseases [RCV004033477]|not provided [RCV001552630] | uncertain significance | 3 | 43600498 | 43600498 | Human | 2 | name |
| 41405974 | CV982498 | single nucleotide variant | NM_018075.5(ANO10):c.1260C>T (p.Ala420=) | not provided [RCV001287977] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 43565686 | 43565686 | Human | | name |
| 126738807 | CV1016251 | single nucleotide variant | NM_018075.5(ANO10):c.882C>G (p.Ile294Met) | Autosomal recessive spinocerebellar ataxia 10 [RCV001329041] | uncertain significance | 3 | 43576972 | 43576972 | Human | 1 | name |
| 127266210 | CV1070817 | single nucleotide variant | NM_018075.5(ANO10):c.884A>G (p.Asn295Ser) | not provided [RCV001403818] | likely benign | 3 | 43576970 | 43576970 | Human | | name |
| 150432174 | CV1246201 | single nucleotide variant | NM_018075.5(ANO10):c.397G>A (p.Glu133Lys) | not provided [RCV001663614]|not specified [RCV004998951] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43598607 | 43598607 | Human | | name |
| 155801138 | CV1864057 | single nucleotide variant | NM_018075.5(ANO10):c.488C>T (p.Thr163Met) | not provided [RCV002474481] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 43580457 | 43580457 | Human | | name |
| 155801753 | CV1864064 | single nucleotide variant | NM_018075.5(ANO10):c.712G>C (p.Glu238Gln) | not provided [RCV002475016] | uncertain significance | 3 | 43577142 | 43577142 | Human | | name |
| 155801754 | CV1864065 | single nucleotide variant | NM_018075.5(ANO10):c.341A>G (p.Asn114Ser) | not provided [RCV002475017] | uncertain significance | 3 | 43598663 | 43598663 | Human | | name |
| 155801755 | CV1864066 | single nucleotide variant | NM_018075.5(ANO10):c.602G>A (p.Arg201His) | not provided [RCV002475018] | uncertain significance | 3 | 43577252 | 43577252 | Human | | name |
| 156380834 | CV2218346 | single nucleotide variant | NM_018075.5(ANO10):c.499G>A (p.Val167Met) | Inborn genetic diseases [RCV002722475] | uncertain significance | 3 | 43580446 | 43580446 | Human | 1 | name |
| 156251214 | CV2232279 | single nucleotide variant | NM_018075.5(ANO10):c.809A>G (p.Tyr270Cys) | Inborn genetic diseases [RCV002713989] | uncertain significance | 3 | 43577045 | 43577045 | Human | 1 | name |
| 155925879 | CV2258644 | single nucleotide variant | NM_018075.5(ANO10):c.877G>T (p.Gly293Cys) | Inborn genetic diseases [RCV002773628] | uncertain significance | 3 | 43576977 | 43576977 | Human | 1 | name |
| 329352780 | CV2476906 | single nucleotide variant | NM_018075.5(ANO10):c.359C>T (p.Thr120Ile) | not provided [RCV003223138] | uncertain significance | 3 | 43598645 | 43598645 | Human | | name |
| 401892061 | CV2775911 | single nucleotide variant | NM_018075.5(ANO10):c.859G>A (p.Gly287Arg) | Inborn genetic diseases [RCV003355227] | uncertain significance | 3 | 43576995 | 43576995 | Human | 1 | name |
| 401962690 | CV2845312 | single nucleotide variant | NM_018075.5(ANO10):c.412A>G (p.Lys138Glu) | not provided [RCV003482773] | uncertain significance | 3 | 43598592 | 43598592 | Human | | name |
| 401962694 | CV2845316 | single nucleotide variant | NM_018075.5(ANO10):c.532G>A (p.Ala178Thr) | not provided [RCV003482777] | uncertain significance | 3 | 43580413 | 43580413 | Human | | name |
| 405173795 | CV2853521 | deletion | NM_018075.5(ANO10):c.1850del (p.Pro617fs) | not provided [RCV003542562] | uncertain significance | 3 | 43432675 | 43432675 | Human | | name |
| 402475416 | CV2863803 | deletion | NM_018075.5(ANO10):c.1029del (p.Leu344fs) | not provided [RCV003543288] | pathogenic | 3 | 43576825 | 43576825 | Human | | name |
| 405120672 | CV2887998 | single nucleotide variant | NM_018075.5(ANO10):c.308G>A (p.Arg103Lys) | Inborn genetic diseases [RCV004953315]|not provided [RCV003559060] | likely benign|uncertain significance | 3 | 43600413 | 43600413 | Human | 1 | name |
| 11650169 | CV291184 | single nucleotide variant | NM_018075.5(ANO10):c.632A>G (p.Tyr211Cys) | Autosomal recessive spinocerebellar ataxia 10 [RCV000291253] | uncertain significance | 3 | 43577222 | 43577222 | Human | 1 | name |
| 402475715 | CV2916800 | single nucleotide variant | NM_018075.5(ANO10):c.650A>G (p.Tyr217Cys) | not provided [RCV003571390] | likely benign | 3 | 43577204 | 43577204 | Human | | name |
| 402508203 | CV2924458 | deletion | NM_018075.5(ANO10):c.1063del (p.Thr355fs) | not provided [RCV003574674] | pathogenic | 3 | 43576791 | 43576791 | Human | | name |
| 11596537 | CV294470 | single nucleotide variant | NM_018075.5(ANO10):c.676G>A (p.Ala226Thr) | Autosomal recessive spinocerebellar ataxia 10 [RCV000383366]|Inborn genetic diseases [RCV004021913] | uncertain significance | 3 | 43577178 | 43577178 | Human | 2 | name |
| 11591589 | CV294876 | single nucleotide variant | NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) | Autosomal recessive spinocerebellar ataxia 10 [RCV000613613]|Inborn genetic diseases [RCV002520121]|not provided [RCV000415975] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43576874 | 43576874 | Human | 2 | name |
| 405192343 | CV2965035 | single nucleotide variant | NM_018075.5(ANO10):c.710G>A (p.Trp237Ter) | not provided [RCV003677320] | pathogenic | 3 | 43577144 | 43577144 | Human | | name |
| 405231848 | CV2988524 | single nucleotide variant | NM_018075.5(ANO10):c.470T>A (p.Leu157Ter) | not provided [RCV003711653] | pathogenic | 3 | 43598534 | 43598534 | Human | | name |
| 402488748 | CV2995614 | single nucleotide variant | NM_018075.5(ANO10):c.993T>G (p.Tyr331Ter) | not provided [RCV003687325] | pathogenic | 3 | 43576861 | 43576861 | Human | | name |
| 405005449 | CV3009980 | single nucleotide variant | NM_018075.5(ANO10):c.758G>A (p.Trp253Ter) | not provided [RCV003693537] | pathogenic | 3 | 43577096 | 43577096 | Human | | name |
| 405130943 | CV3011090 | deletion | NM_018075.5(ANO10):c.1264del (p.Val422fs) | not provided [RCV003701692] | pathogenic | 3 | 43565682 | 43565682 | Human | | name |
| 405055702 | CV3023289 | deletion | NM_018075.5(ANO10):c.1519del (p.Tyr507fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV005036944]|not provided [RCV003697323] | pathogenic|likely pathogenic | 3 | 43555427 | 43555427 | Human | 1 | name |
| 405174831 | CV3026984 | deletion | NM_018075.5(ANO10):c.1321del (p.Gln441fs) | not provided [RCV003704931] | pathogenic | 3 | 43561375 | 43561375 | Human | | name |
| 405208548 | CV3037212 | deletion | NM_018075.5(ANO10):c.1350del (p.Leu451fs) | not provided [RCV003708328] | pathogenic | 3 | 43561346 | 43561346 | Human | | name |
| 402523495 | CV3127004 | single nucleotide variant | NM_018075.5(ANO10):c.986C>G (p.Ser329Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV005356543]|not provided [RCV003824922] | pathogenic|likely pathogenic | 3 | 43576868 | 43576868 | Human | 1 | name |
| 405085867 | CV3167353 | duplication | NM_018075.5(ANO10):c.1276dup (p.Met426fs) | not provided [RCV003851934] | pathogenic | 3 | 43565669 | 43565670 | Human | | name |
| 405265554 | CV3185742 | single nucleotide variant | NM_018075.5(ANO10):c.730G>T (p.Val244Leu) | not provided [RCV003886306] | uncertain significance | 3 | 43577124 | 43577124 | Human | | name |
| 405695384 | CV3282477 | single nucleotide variant | NM_018075.5(ANO10):c.382A>T (p.Ile128Phe) | Inborn genetic diseases [RCV004424438] | uncertain significance | 3 | 43598622 | 43598622 | Human | 1 | name |
| 405695390 | CV3282478 | single nucleotide variant | NM_018075.5(ANO10):c.429C>G (p.Ile143Met) | Inborn genetic diseases [RCV004424439] | uncertain significance | 3 | 43598575 | 43598575 | Human | 1 | name |
| 405695395 | CV3282479 | single nucleotide variant | NM_018075.5(ANO10):c.632A>C (p.Tyr211Ser) | Inborn genetic diseases [RCV004424440] | uncertain significance | 3 | 43577222 | 43577222 | Human | 1 | name |
| 405695398 | CV3282480 | single nucleotide variant | NM_018075.5(ANO10):c.976C>T (p.Leu326Phe) | Inborn genetic diseases [RCV004424441] | uncertain significance | 3 | 43576878 | 43576878 | Human | 1 | name |
| 407521299 | CV3458347 | single nucleotide variant | NM_018075.5(ANO10):c.900G>T (p.Lys300Asn) | Inborn genetic diseases [RCV004652483] | uncertain significance | 3 | 43576954 | 43576954 | Human | 1 | name |
| 408367163 | CV3515778 | single nucleotide variant | NM_018075.5(ANO10):c.815G>C (p.Trp272Ser) | ANO10-related disorder [RCV004757884] | uncertain significance | 3 | 43577039 | 43577039 | Human | | name , trait , alternate_id |
| 408386193 | CV3528812 | single nucleotide variant | NM_018075.5(ANO10):c.556T>C (p.Trp186Arg) | not provided [RCV004772645] | uncertain significance | 3 | 43580389 | 43580389 | Human | | name |
| 408386194 | CV3528813 | single nucleotide variant | NM_018075.5(ANO10):c.337G>A (p.Asp113Asn) | not provided [RCV004772646] | uncertain significance | 3 | 43600384 | 43600384 | Human | | name |
| 597710190 | CV3554943 | single nucleotide variant | NM_018075.5(ANO10):c.787C>T (p.Arg263Cys) | Inborn genetic diseases [RCV004958954] | uncertain significance | 3 | 43577067 | 43577067 | Human | 1 | name |
| 597710203 | CV3554950 | single nucleotide variant | NM_018075.5(ANO10):c.439C>T (p.Pro147Ser) | Inborn genetic diseases [RCV004958956] | uncertain significance | 3 | 43598565 | 43598565 | Human | 1 | name |
| 597710222 | CV3554967 | single nucleotide variant | NM_018075.5(ANO10):c.359C>A (p.Thr120Lys) | Inborn genetic diseases [RCV004958959] | uncertain significance | 3 | 43598645 | 43598645 | Human | 1 | name |
| 597710236 | CV3554983 | single nucleotide variant | NM_018075.5(ANO10):c.338A>G (p.Asp113Gly) | Inborn genetic diseases [RCV004958961] | uncertain significance | 3 | 43598666 | 43598666 | Human | 1 | name |
| 597710249 | CV3554989 | single nucleotide variant | NM_018075.5(ANO10):c.764C>T (p.Thr255Met) | Inborn genetic diseases [RCV004958963] | uncertain significance | 3 | 43577090 | 43577090 | Human | 1 | name |
| 597710255 | CV3554996 | single nucleotide variant | NM_018075.5(ANO10):c.590T>C (p.Ile197Thr) | Inborn genetic diseases [RCV004958964] | uncertain significance | 3 | 43580355 | 43580355 | Human | 1 | name |
| 597716639 | CV3717489 | duplication | NM_018075.5(ANO10):c.1558dup (p.Ala520fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV005035318] | likely pathogenic | 3 | 43555387 | 43555388 | Human | 1 | name |
| 598223095 | CV3893961 | single nucleotide variant | NM_018075.5(ANO10):c.443A>C (p.Gln148Pro) | not provided [RCV005257204] | uncertain significance | 3 | 43598561 | 43598561 | Human | | name |
| 13214780 | CV428190 | single nucleotide variant | NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV000501690] | pathogenic | 3 | 43600415 | 43600415 | Human | 1 | name |
| 13482068 | CV440789 | single nucleotide variant | NM_018075.5(ANO10):c.938G>A (p.Arg313His) | Inborn genetic diseases [RCV002527454]|not provided [RCV005409664]|not specified [RCV000517762] | uncertain significance | 3 | 43576916 | 43576916 | Human | 1 | name |
| 13480178 | CV440790 | single nucleotide variant | NM_018075.5(ANO10):c.866A>G (p.His289Arg) | not specified [RCV000517195] | uncertain significance | 3 | 43576988 | 43576988 | Human | | name |
| 13481865 | CV440791 | single nucleotide variant | NM_018075.5(ANO10):c.608A>G (p.Tyr203Cys) | not specified [RCV000517705] | uncertain significance | 3 | 43577246 | 43577246 | Human | | name |
| 13478736 | CV440792 | single nucleotide variant | NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) | Autosomal recessive spinocerebellar ataxia 10 [RCV000778699]|not provided [RCV003558436] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43580433 | 43580433 | Human | 1 | name |
| 13808033 | CV576735 | single nucleotide variant | NM_018075.5(ANO10):c.850C>A (p.Pro284Thr) | not provided [RCV000710543] | uncertain significance | 3 | 43577004 | 43577004 | Human | | name |
| 13808031 | CV576736 | single nucleotide variant | NM_018075.5(ANO10):c.790G>A (p.Gly264Ser) | Inborn genetic diseases [RCV002534488]|not provided [RCV000710542] | uncertain significance | 3 | 43577064 | 43577064 | Human | 1 | name |
| 14396999 | CV612653 | single nucleotide variant | NM_018075.5(ANO10):c.391G>A (p.Glu131Lys) | not provided [RCV000762110] | uncertain significance | 3 | 43598613 | 43598613 | Human | | name |
| 15100152 | CV720448 | single nucleotide variant | NM_018075.5(ANO10):c.842T>C (p.Phe281Ser) | ANO10-related disorder [RCV003910605]|not provided [RCV000892058] | benign | 3 | 43577012 | 43577012 | Human | 1 | name , trait , alternate_id |
| 15137764 | CV734068 | single nucleotide variant | NM_018075.5(ANO10):c.799A>G (p.Asn267Asp) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147922]|not provided [RCV000898863] | likely benign|uncertain significance | 3 | 43577055 | 43577055 | Human | 1 | name |
| 21072755 | CV793011 | single nucleotide variant | NM_018075.5(ANO10):c.989T>G (p.Leu330Arg) | not provided [RCV000991527] | uncertain significance | 3 | 43576865 | 43576865 | Human | | name |
| 21072749 | CV793012 | single nucleotide variant | NM_018075.5(ANO10):c.416A>T (p.Asp139Val) | not provided [RCV000991526] | uncertain significance | 3 | 43598588 | 43598588 | Human | | name |
| 21072744 | CV793013 | single nucleotide variant | NM_018075.5(ANO10):c.305A>G (p.Tyr102Cys) | not provided [RCV000991525] | uncertain significance | 3 | 43600416 | 43600416 | Human | | name |
| 28874058 | CV888902 | single nucleotide variant | NM_018075.5(ANO10):c.857C>T (p.Pro286Leu) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147035] | uncertain significance | 3 | 43576997 | 43576997 | Human | 1 | name |
| 28874062 | CV888903 | single nucleotide variant | NM_018075.5(ANO10):c.853C>T (p.Arg285Trp) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147036] | uncertain significance | 3 | 43577001 | 43577001 | Human | 1 | name |
| 28876088 | CV888904 | single nucleotide variant | NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147920]|Inborn genetic diseases [RCV003163329]|not provided [RCV001287984] | uncertain significance | 3 | 43577017 | 43577017 | Human | 2 | name |
| 28876092 | CV888905 | single nucleotide variant | NM_018075.5(ANO10):c.802A>G (p.Met268Val) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147921] | uncertain significance | 3 | 43577052 | 43577052 | Human | 1 | name |
| 28876099 | CV888906 | single nucleotide variant | NM_018075.5(ANO10):c.788G>A (p.Arg263His) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147923]|not provided [RCV001724255]|not specified [RCV001287983] | benign|likely benign | 3 | 43577066 | 43577066 | Human | 2 | name |
| 28876099 | CV888906 | single nucleotide variant | NM_018075.5(ANO10):c.788G>A (p.Arg263His) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147923]|not provided [RCV001724255]|not specified [RCV001287983] | benign|likely benign | 3 | 43577066 | 43577067 | Human | 2 | name |
| 38598765 | CV964816 | duplication | NM_018075.5(ANO10):c.1551dup (p.Ala518fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV001254060]|not provided [RCV003438737] | pathogenic | 3 | 43555394 | 43555395 | Human | 1 | name |
| 40904111 | CV976253 | single nucleotide variant | NM_018075.5(ANO10):c.611T>G (p.Phe204Cys) | not provided [RCV001269928] | likely pathogenic | 3 | 43577243 | 43577243 | Human | | name |
| 41405976 | CV982501 | single nucleotide variant | NM_018075.5(ANO10):c.566G>A (p.Arg189Gln) | not provided [RCV001287981] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 43580379 | 43580379 | Human | | name |
| 8658975 | CV133835 | single nucleotide variant | NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) | Autosomal recessive spinocerebellar ataxia 10 [RCV000606579]|not provided [RCV000991519]|not specified [RCV000116350] | benign|likely benign | 3 | 43576788 | 43576788 | Human | 1 | name |
| 8658976 | CV133836 | single nucleotide variant | NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) | Autosomal recessive spinocerebellar ataxia 10 [RCV000613942]|not provided [RCV000991521]|not specified [RCV000116351] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 43561311 | 43561311 | Human | 1 | name |
| 8658977 | CV133837 | single nucleotide variant | NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) | Autosomal recessive spinocerebellar ataxia 10 [RCV000606923]|not provided [RCV001711378]|not specified [RCV000116352] | benign|likely benign | 3 | 43549835 | 43549835 | Human | 1 | name |
| 155267890 | CV1701432 | duplication | NM_018075.5(ANO10):c.1056dup (p.Glu353Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV002283657]|not provided [RCV003482405] | pathogenic|likely pathogenic | 3 | 43576797 | 43576798 | Human | 1 | name |
| 9686460 | CV171738 | single nucleotide variant | NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) | Autosomal recessive spinocerebellar ataxia 10 [RCV000149438]|not provided [RCV002514864]|not specified [RCV001815207] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43432682 | 43432682 | Human | 1 | name |
| 9686457 | CV171739 | single nucleotide variant | NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV000149439]|not provided [RCV003556195] | pathogenic|uncertain significance | 3 | 43576710 | 43576710 | Human | 1 | name |
| 155801143 | CV1864062 | single nucleotide variant | NM_018075.5(ANO10):c.1585G>T (p.Glu529Ter) | not provided [RCV002474486] | pathogenic | 3 | 43555361 | 43555361 | Human | | name |
| 155801756 | CV1864067 | single nucleotide variant | NM_018075.5(ANO10):c.1429A>G (p.Thr477Ala) | not provided [RCV002475019] | uncertain significance | 3 | 43561267 | 43561267 | Human | | name |
| 155983272 | CV2233284 | single nucleotide variant | NM_018075.5(ANO10):c.1221C>A (p.Phe407Leu) | Inborn genetic diseases [RCV002732663] | uncertain significance | 3 | 43565725 | 43565725 | Human | 1 | name |
| 155966540 | CV2304766 | single nucleotide variant | NM_018075.5(ANO10):c.1170C>G (p.His390Gln) | Inborn genetic diseases [RCV002906534] | uncertain significance | 3 | 43574857 | 43574857 | Human | 1 | name |
| 401731236 | CV2693687 | single nucleotide variant | NM_018075.5(ANO10):c.1253A>T (p.Tyr418Phe) | Inborn genetic diseases [RCV003289816] | uncertain significance | 3 | 43565693 | 43565693 | Human | 1 | name |
| 401962673 | CV2845295 | single nucleotide variant | NM_018075.5(ANO10):c.1753C>A (p.Pro585Thr) | not provided [RCV003482756] | uncertain significance | 3 | 43549764 | 43549764 | Human | | name |
| 401962676 | CV2845298 | single nucleotide variant | NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter) | not provided [RCV003482759] | pathogenic|likely pathogenic | 3 | 43549757 | 43549757 | Human | | name |
| 401962680 | CV2845302 | single nucleotide variant | NM_018075.5(ANO10):c.1853G>A (p.Arg618Gln) | not provided [RCV003482763] | uncertain significance | 3 | 43432672 | 43432672 | Human | | name |
| 401962682 | CV2845304 | single nucleotide variant | NM_018075.5(ANO10):c.1866G>A (p.Met622Ile) | not provided [RCV003482765] | uncertain significance | 3 | 43432659 | 43432659 | Human | | name |
| 11652854 | CV290315 | single nucleotide variant | NM_018075.5(ANO10):c.1595C>T (p.Ser532Leu) | Autosomal recessive spinocerebellar ataxia 10 [RCV000307319] | uncertain significance | 3 | 43555351 | 43555351 | Human | 1 | name |
| 11583344 | CV290321 | single nucleotide variant | NM_018075.5(ANO10):c.1339A>T (p.Met447Leu) | Autosomal recessive spinocerebellar ataxia 10 [RCV000265866] | uncertain significance | 3 | 43561357 | 43561357 | Human | 1 | name |
| 11587617 | CV290324 | single nucleotide variant | NM_018075.5(ANO10):c.1012G>A (p.Asp338Asn) | Autosomal recessive spinocerebellar ataxia 10 [RCV000296386]|not provided [RCV001495302] | likely benign|uncertain significance | 3 | 43576842 | 43576842 | Human | 1 | name |
| 11597326 | CV294459 | single nucleotide variant | NM_018075.5(ANO10):c.1628G>A (p.Arg543His) | Autosomal recessive spinocerebellar ataxia 10 [RCV000392732] | uncertain significance | 3 | 43555318 | 43555318 | Human | 1 | name |
| 11594899 | CV294460 | single nucleotide variant | NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) | Autosomal recessive spinocerebellar ataxia 10 [RCV000364208]|not provided [RCV001418862] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43555387 | 43555387 | Human | 1 | name |
| 11590293 | CV294463 | single nucleotide variant | NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) | ANO10-related disorder [RCV003922508]|Autosomal recessive spinocerebellar ataxia 10 [RCV000764506]|not provided [RCV000710538]|not specified [RCV001643046] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43576721 | 43576721 | Human | 1 | name , trait , alternate_id |
| 11587489 | CV294862 | single nucleotide variant | NM_018075.5(ANO10):c.1864A>G (p.Met622Val) | Autosomal recessive spinocerebellar ataxia 10 [RCV000295590]|Inborn genetic diseases [RCV003298402]|not provided [RCV001660718] | likely benign|uncertain significance | 3 | 43432661 | 43432661 | Human | 2 | name |
| 11593842 | CV294866 | single nucleotide variant | NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg) | Autosomal recessive spinocerebellar ataxia 10 [RCV000352819] | uncertain significance | 3 | 43432708 | 43432708 | Human | 1 | name |
| 405164522 | CV3018155 | single nucleotide variant | NM_018075.5(ANO10):c.1646C>G (p.Ser549Ter) | not provided [RCV003704178] | pathogenic | 3 | 43555300 | 43555300 | Human | | name |
| 405169712 | CV3122342 | single nucleotide variant | NM_018075.5(ANO10):c.1132C>T (p.Arg378Ter) | not provided [RCV003818931] | pathogenic | 3 | 43576722 | 43576722 | Human | | name |
| 405185194 | CV3138653 | single nucleotide variant | NM_018075.5(ANO10):c.1244C>G (p.Ser415Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV005038563]|not provided [RCV003842865] | pathogenic | 3 | 43565702 | 43565702 | Human | 1 | name |
| 405260999 | CV3186009 | single nucleotide variant | NM_018075.5(ANO10):c.1021G>C (p.Val341Leu) | not provided [RCV003885085] | uncertain significance | 3 | 43576833 | 43576833 | Human | | name |
| 405695340 | CV3282469 | single nucleotide variant | NM_018075.5(ANO10):c.1013A>C (p.Asp338Ala) | Inborn genetic diseases [RCV004424430]|not provided [RCV005000499] | uncertain significance | 3 | 43576841 | 43576841 | Human | 1 | name |
| 405695345 | CV3282470 | single nucleotide variant | NM_018075.5(ANO10):c.1043A>G (p.Glu348Gly) | Inborn genetic diseases [RCV004424431] | uncertain significance | 3 | 43576811 | 43576811 | Human | 1 | name |
| 405695352 | CV3282471 | single nucleotide variant | NM_018075.5(ANO10):c.1264G>A (p.Val422Ile) | Inborn genetic diseases [RCV004424432] | uncertain significance | 3 | 43565682 | 43565682 | Human | 1 | name |
| 405695356 | CV3282472 | single nucleotide variant | NM_018075.5(ANO10):c.1351C>G (p.Leu451Val) | Inborn genetic diseases [RCV004424433] | uncertain significance | 3 | 43561345 | 43561345 | Human | 1 | name |
| 405695363 | CV3282473 | single nucleotide variant | NM_018075.5(ANO10):c.1535C>T (p.Ser512Phe) | Inborn genetic diseases [RCV004424434] | uncertain significance | 3 | 43555411 | 43555411 | Human | 1 | name |
| 405695374 | CV3282475 | single nucleotide variant | NM_018075.5(ANO10):c.1801G>A (p.Ala601Thr) | Inborn genetic diseases [RCV004424436] | uncertain significance | 3 | 43432724 | 43432724 | Human | 1 | name |
| 405695379 | CV3282476 | single nucleotide variant | NM_018075.5(ANO10):c.1837A>G (p.Ile613Val) | Inborn genetic diseases [RCV004424437] | uncertain significance | 3 | 43432688 | 43432688 | Human | 1 | name |
| 407457074 | CV3416045 | single nucleotide variant | NM_018075.5(ANO10):c.1262T>C (p.Phe421Ser) | not provided [RCV004598922] | uncertain significance | 3 | 43565684 | 43565684 | Human | | name |
| 407489102 | CV3458304 | single nucleotide variant | NM_018075.5(ANO10):c.1301C>T (p.Ala434Val) | Inborn genetic diseases [RCV004641280] | uncertain significance | 3 | 43561395 | 43561395 | Human | 1 | name |
| 407521239 | CV3458315 | single nucleotide variant | NM_018075.5(ANO10):c.1927G>A (p.Val643Met) | Inborn genetic diseases [RCV004652464] | uncertain significance | 3 | 43366962 | 43366962 | Human | 1 | name |
| 407489041 | CV3458336 | single nucleotide variant | NM_018075.5(ANO10):c.1652A>G (p.Asn551Ser) | Inborn genetic diseases [RCV004641291] | likely benign | 3 | 43555294 | 43555294 | Human | 1 | name |
| 596929863 | CV3538630 | single nucleotide variant | NM_018075.5(ANO10):c.1736A>C (p.Gln579Pro) | not provided [RCV004792099] | uncertain significance | 3 | 43549781 | 43549781 | Human | | name |
| 596927587 | CV3541137 | single nucleotide variant | NM_018075.5(ANO10):c.1735C>T (p.Gln579Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV004797008] | likely pathogenic | 3 | 43549782 | 43549782 | Human | 1 | name |
| 596943613 | CV3544306 | single nucleotide variant | NM_018075.5(ANO10):c.1664G>C (p.Trp555Ser) | not specified [RCV004800786] | uncertain significance | 3 | 43555282 | 43555282 | Human | | name |
| 597710197 | CV3554945 | single nucleotide variant | NM_018075.5(ANO10):c.1769A>T (p.Asp590Val) | Inborn genetic diseases [RCV004958955] | uncertain significance | 3 | 43549748 | 43549748 | Human | 1 | name |
| 597710210 | CV3554953 | single nucleotide variant | NM_018075.5(ANO10):c.1054T>A (p.Ser352Thr) | Inborn genetic diseases [RCV004958957] | uncertain significance | 3 | 43576800 | 43576800 | Human | 1 | name |
| 597710216 | CV3554960 | single nucleotide variant | NM_018075.5(ANO10):c.1795G>C (p.Glu599Gln) | Inborn genetic diseases [RCV004958958] | uncertain significance | 3 | 43549722 | 43549722 | Human | 1 | name |
| 597710228 | CV3554977 | single nucleotide variant | NM_018075.5(ANO10):c.1223A>T (p.Asn408Ile) | Inborn genetic diseases [RCV004958960] | uncertain significance | 3 | 43565723 | 43565723 | Human | 1 | name |
| 597710242 | CV3554987 | single nucleotide variant | NM_018075.5(ANO10):c.1280A>C (p.Lys427Thr) | Inborn genetic diseases [RCV004958962] | uncertain significance | 3 | 43565666 | 43565666 | Human | 1 | name |
| 597710262 | CV3555005 | single nucleotide variant | NM_018075.5(ANO10):c.1094T>C (p.Ile365Thr) | Inborn genetic diseases [RCV004958965] | uncertain significance | 3 | 43576760 | 43576760 | Human | 1 | name |
| 597652013 | CV3730605 | single nucleotide variant | NM_018075.5(ANO10):c.1471T>G (p.Tyr491Asp) | not provided [RCV005000895] | uncertain significance | 3 | 43561225 | 43561225 | Human | | name |
| 598213907 | CV3993744 | single nucleotide variant | NM_018075.5(ANO10):c.1289G>A (p.Arg430His) | Inborn genetic diseases [RCV005378445] | uncertain significance | 3 | 43565657 | 43565657 | Human | 1 | name |
| 598179792 | CV3993745 | single nucleotide variant | NM_018075.5(ANO10):c.1694T>C (p.Ile565Thr) | Inborn genetic diseases [RCV005372001] | uncertain significance | 3 | 43549823 | 43549823 | Human | 1 | name |
| 598213916 | CV3993747 | single nucleotide variant | NM_018075.5(ANO10):c.1687A>T (p.Ser563Cys) | Inborn genetic diseases [RCV005378447] | uncertain significance | 3 | 43549830 | 43549830 | Human | 1 | name |
| 8602415 | CV40014 | single nucleotide variant | NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg) | Autosomal recessive spinocerebellar ataxia 10 [RCV000024051] | pathogenic | 3 | 43555417 | 43555417 | Human | 1 | name |
| 616933056 | CV4012638 | single nucleotide variant | NM_018075.5(ANO10):c.1162G>A (p.Glu388Lys) | Autosomal recessive spinocerebellar ataxia 10 [RCV005410098] | uncertain significance | 3 | 43576692 | 43576692 | Human | 1 | name |
| 617152855 | CV4018444 | single nucleotide variant | NM_018075.5(ANO10):c.1162G>T (p.Glu388Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV005418704] | pathogenic | 3 | 43576692 | 43576692 | Human | 1 | name |
| 13477213 | CV440786 | single nucleotide variant | NM_018075.5(ANO10):c.1715C>T (p.Ala572Val) | not specified [RCV000516307] | uncertain significance | 3 | 43549802 | 43549802 | Human | | name |
| 13484144 | CV440787 | single nucleotide variant | NM_018075.5(ANO10):c.1715C>A (p.Ala572Glu) | not provided [RCV005000071] | uncertain significance | 3 | 43549802 | 43549802 | Human | | name |
| 13481162 | CV440788 | single nucleotide variant | NM_018075.5(ANO10):c.1688G>A (p.Ser563Asn) | not specified [RCV000517492] | uncertain significance | 3 | 43549829 | 43549829 | Human | | name |
| 13808119 | CV576734 | single nucleotide variant | NM_018075.5(ANO10):c.1315A>G (p.Thr439Ala) | not provided [RCV000710539] | uncertain significance | 3 | 43561381 | 43561381 | Human | | name |
| 14702811 | CV653860 | single nucleotide variant | NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) | Autosomal recessive spinocerebellar ataxia 10 [RCV000824896] | likely pathogenic | 3 | 43555409 | 43555409 | Human | 1 | name |
| 15119551 | CV748270 | single nucleotide variant | NM_018075.5(ANO10):c.1954A>G (p.Met652Val) | ANO10-related disorder [RCV003923251]|Autosomal recessive spinocerebellar ataxia 10 [RCV001147834]|not provided [RCV000918162]|not specified [RCV001644862] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 43366935 | 43366935 | Human | 1 | name , trait , alternate_id |
| 21072735 | CV793009 | single nucleotide variant | NM_018075.5(ANO10):c.1724G>A (p.Gly575Glu) | not provided [RCV000991523] | uncertain significance | 3 | 43549793 | 43549793 | Human | | name |
| 21068554 | CV795431 | single nucleotide variant | NM_018075.5(ANO10):c.1627C>T (p.Arg543Cys) | not provided [RCV000998061] | uncertain significance | 3 | 43555319 | 43555319 | Human | | name |
| 21074726 | CV798534 | single nucleotide variant | NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter) | Autosomal recessive spinocerebellar ataxia 10 [RCV000995493]|not provided [RCV003769342] | pathogenic | 3 | 43576829 | 43576829 | Human | 1 | name |
| 28880602 | CV888897 | single nucleotide variant | NM_018075.5(ANO10):c.1643C>A (p.Pro548His) | Autosomal recessive spinocerebellar ataxia 10 [RCV001149373]|Inborn genetic diseases [RCV004649466] | uncertain significance | 3 | 43555303 | 43555303 | Human | 2 | name |
| 28880605 | CV888898 | single nucleotide variant | NM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys) | Autosomal recessive spinocerebellar ataxia 10 [RCV001149374] | uncertain significance | 3 | 43555453 | 43555453 | Human | 1 | name |
| 28869796 | CV888900 | single nucleotide variant | NM_018075.5(ANO10):c.1288C>T (p.Arg430Cys) | ANO10-related disorder [RCV003945867]|Autosomal recessive spinocerebellar ataxia 10 [RCV001145079] | likely benign|uncertain significance | 3 | 43565658 | 43565658 | Human | 1 | name , trait , alternate_id |
| 28874056 | CV888901 | single nucleotide variant | NM_018075.5(ANO10):c.1277T>C (p.Met426Thr) | Autosomal recessive spinocerebellar ataxia 10 [RCV001147034]|Inborn genetic diseases [RCV003246725] | uncertain significance | 3 | 43565669 | 43565669 | Human | 2 | name |
| 40889246 | CV975108 | single nucleotide variant | NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) | Autosomal recessive spinocerebellar ataxia 10 [RCV001644964]|not provided [RCV001267936] | pathogenic|likely pathogenic | 3 | 43576845 | 43576845 | Human | 1 | name |
| 41405973 | CV982499 | single nucleotide variant | NM_018075.5(ANO10):c.1050C>A (p.Ser350Arg) | not provided [RCV001287976] | uncertain significance | 3 | 43576804 | 43576804 | Human | | name |
| 151353380 | CV1326482 | duplication | NM_018075.5(ANO10):c.131_132dup (p.Asp45fs) | not provided [RCV001816346] | pathogenic | 3 | 43605720 | 43605721 | Human | | name |
| 405206723 | CV2994370 | deletion | NM_018075.5(ANO10):c.269_270del (p.Lys90fs) | not provided [RCV003678832] | pathogenic | 3 | 43600451 | 43600452 | Human | | name |
| 402521448 | CV3005042 | duplication | NM_018075.5(ANO10):c.818_819dup (p.Thr274fs) | not provided [RCV003690328] | pathogenic | 3 | 43577034 | 43577035 | Human | | name |
| 405146864 | CV3024049 | deletion | NM_018075.5(ANO10):c.432_439del (p.Gly145fs) | not provided [RCV003702996] | pathogenic | 3 | 43598565 | 43598572 | Human | | name |
| 13481677 | CV440794 | deletion | NM_018075.5(ANO10):c.343_345del (p.Asn115del) | not specified [RCV000517644] | uncertain significance | 3 | 43598659 | 43598661 | Human | | name |
| 155801140 | CV1864059 | deletion | NM_018075.5(ANO10):c.1179_1180del (p.Glu393fs) | not provided [RCV002474483] | likely pathogenic | 3 | 43574847 | 43574848 | Human | | name |
| 402481879 | CV3001210 | deletion | NM_018075.5(ANO10):c.1349_1350del (p.Phe450fs) | not provided [RCV003686677] | pathogenic | 3 | 43561346 | 43561347 | Human | | name |
| 405189214 | CV3149540 | microsatellite | NM_018075.5(ANO10):c.1248_1249del (p.Phe417fs) | not provided [RCV003843266] | pathogenic | 3 | 43565697 | 43565698 | Human | | name |
| 597716645 | CV3717491 | deletion | NM_018075.5(ANO10):c.1121_1145del (p.Asn374fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV005035319]|not provided [RCV005112824] | pathogenic|likely pathogenic | 3 | 43576709 | 43576733 | Human | 1 | name |
| 8568759 | CV40015 | deletion | NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs) | Autosomal recessive spinocerebellar ataxia 10 [RCV000024052]|not provided [RCV001268891] | pathogenic | 3 | 43576703 | 43576704 | Human | 1 | name |
| 13520836 | CV495191 | deletion | NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) | Autosomal recessive spinocerebellar ataxia 10 [RCV001644702]|not provided [RCV000598963] | pathogenic|likely pathogenic | 3 | 43600432 | 43600432 | Human | 1 | name |
| 13808027 | CV576737 | duplication | NM_018075.5(ANO10):c.158_169dup (p.Arg53_Leu56dup) | not provided [RCV000710540] | uncertain significance | 3 | 43600551 | 43600552 | Human | | name |
| 8568761 | CV40017 | deletion | NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer) | Autosomal recessive spinocerebellar ataxia 10 [RCV000024054] | pathogenic | 3 | 43555342 | 43555342 | Human | 1 | name |