| 150434542 | CV1233335 | single nucleotide variant | NM_031418.4(ANO3):c.*9T>C | not provided [RCV001643761] | benign | 11 | 26660453 | 26660453 | Human | | name |
| 150422663 | CV1180817 | single nucleotide variant | NM_031418.4(ANO3):c.-54C>T | not provided [RCV001552942] | likely benign | 11 | 26332222 | 26332222 | Human | | name |
| 150509735 | CV1247396 | single nucleotide variant | NM_031418.4(ANO3):c.-12C>T | not provided [RCV001659423] | benign | 11 | 26332264 | 26332264 | Human | | name |
| 150472403 | CV1259289 | single nucleotide variant | NM_031418.4(ANO3):c.*43G>A | not provided [RCV001684535] | benign | 11 | 26660487 | 26660487 | Human | | name |
| 150456097 | CV1278452 | single nucleotide variant | NM_031418.1(ANO3):c.-262C= | not provided [RCV001709067] | benign | 11 | 26332014 | 26332014 | Human | | name |
| 150426518 | CV1187733 | single nucleotide variant | NM_031418.4(ANO3):c.-143G>A | not provided [RCV001559676] | likely benign | 11 | 26332133 | 26332133 | Human | | name |
| 150405487 | CV1191215 | single nucleotide variant | NM_031418.4(ANO3):c.*192C>T | not provided [RCV001564304] | likely benign | 11 | 26660636 | 26660636 | Human | | name |
| 150462788 | CV1234963 | single nucleotide variant | NM_031418.1(ANO3):c.-180T>A | not provided [RCV001649545] | benign | 11 | 26332096 | 26332096 | Human | | name |
| 150492151 | CV1238120 | single nucleotide variant | NM_031418.1(ANO3):c.-386C>G | not provided [RCV001654966] | benign | 11 | 26331890 | 26331890 | Human | | name |
| 405172867 | CV2920640 | single nucleotide variant | NM_031418.4(ANO3):c.46+3C>T | Dystonic disorder [RCV003587781] | uncertain significance | 11 | 26332324 | 26332324 | Human | 2 | name |
| 127337762 | CV1142186 | single nucleotide variant | NM_031418.4(ANO3):c.314-4A>G | Dystonic disorder [RCV001493046] | likely benign | 11 | 26463026 | 26463026 | Human | 2 | name |
| 150336794 | CV1165989 | single nucleotide variant | NM_031418.4(ANO3):c.432+4A>G | Dystonic disorder [RCV003746591]|not provided [RCV001532157] | uncertain significance | 11 | 26463152 | 26463152 | Human | 2 | name |
| 150501197 | CV1238336 | single nucleotide variant | NM_031418.4(ANO3):c.46+83G>T | Dystonia 24 [RCV002260261]|not provided [RCV001656766] | benign | 11 | 26332404 | 26332404 | Human | 1 | name , alternate_id |
| 8652905 | CV129480 | single nucleotide variant | NM_031418.2(ANO3):c.-1324C>T | Lung cancer [RCV000109967] | uncertain significance | 11 | 26330952 | 26330952 | Human | | name |
| 152083379 | CV1576797 | single nucleotide variant | NM_031418.4(ANO3):c.242-2A>C | Dystonic disorder [RCV002193314] | likely benign | 11 | 26443763 | 26443763 | Human | 2 | name |
| 405249103 | CV2972411 | single nucleotide variant | NM_031418.4(ANO3):c.692+1G>A | Dystonic disorder [RCV003746989] | uncertain significance | 11 | 26516928 | 26516928 | Human | 2 | name |
| 405249456 | CV2978509 | single nucleotide variant | NM_031418.4(ANO3):c.433-4G>T | Dystonic disorder [RCV003747134] | likely benign | 11 | 26508100 | 26508100 | Human | 2 | name |
| 597911437 | CV3778262 | single nucleotide variant | NM_031418.4(ANO3):c.869+7T>A | Dystonic disorder [RCV005128801] | likely benign | 11 | 26531343 | 26531343 | Human | 2 | name |
| 597895439 | CV3810398 | single nucleotide variant | NM_031418.4(ANO3):c.432+8G>A | Dystonic disorder [RCV005151923] | likely benign | 11 | 26463156 | 26463156 | Human | 2 | name |
| 12883155 | CV398165 | single nucleotide variant | NM_031418.4(ANO3):c.977-6T>C | Dystonia 24 [RCV002259952]|Dystonic disorder [RCV000461058]|not provided [RCV001597143] | benign | 11 | 26537400 | 26537400 | Human | 3 | name , alternate_id |
| 13612542 | CV526116 | single nucleotide variant | NM_031418.4(ANO3):c.47-10G>C | Dystonic disorder [RCV000630730] | likely benign | 11 | 26441908 | 26441908 | Human | 2 | name |
| 14703198 | CV652184 | single nucleotide variant | NM_031418.4(ANO3):c.591+4G>C | Dystonic disorder [RCV000792653] | uncertain significance | 11 | 26508266 | 26508266 | Human | 2 | name |
| 15116726 | CV685284 | duplication | NM_031418.4(ANO3):c.693-4dup | Dystonic disorder [RCV001454101] | likely benign | 11 | 26525625 | 26525626 | Human | 2 | name |
| 15123271 | CV685285 | single nucleotide variant | NM_031418.4(ANO3):c.870-7T>C | Dystonia 24 [RCV002260075]|Dystonic disorder [RCV000862209]|not provided [RCV001637999] | benign | 11 | 26534449 | 26534449 | Human | 3 | name , alternate_id |
| 127260431 | CV1078148 | single nucleotide variant | NM_031418.4(ANO3):c.1672-9A>C | Dystonic disorder [RCV001420049] | likely benign | 11 | 26599541 | 26599541 | Human | 2 | name |
| 127314428 | CV1121322 | single nucleotide variant | NM_031418.4(ANO3):c.2428+9C>T | Dystonic disorder [RCV001457676] | likely benign | 11 | 26643343 | 26643343 | Human | 2 | name |
| 127290765 | CV1156686 | single nucleotide variant | NM_031418.4(ANO3):c.1671+9T>C | Dystonia 24 [RCV002260152]|Dystonic disorder [RCV001509983]|not provided [RCV001619909] | benign | 11 | 26599007 | 26599007 | Human | 3 | name , alternate_id |
| 150335394 | CV1172243 | single nucleotide variant | NM_031418.4(ANO3):c.977-80T>C | Dystonia 24 [RCV002260190]|not provided [RCV001540540] | benign | 11 | 26537326 | 26537326 | Human | 1 | name , alternate_id |
| 150452931 | CV1205589 | duplication | NM_031418.4(ANO3):c.313+88dup | not provided [RCV001585490] | likely benign | 11 | 26443914 | 26443915 | Human | | name |
| 150441205 | CV1246699 | single nucleotide variant | NM_031418.4(ANO3):c.591+91G>C | not provided [RCV001666353] | benign | 11 | 26508353 | 26508353 | Human | | name |
| 150444035 | CV1249359 | single nucleotide variant | NM_031418.4(ANO3):c.738-56T>A | Dystonia 24 [RCV002260284]|not provided [RCV001666791] | benign | 11 | 26531149 | 26531149 | Human | 1 | name , alternate_id |
| 150507080 | CV1256842 | deletion | NM_031418.4(ANO3):c.1290-7del | Dystonia 24 [RCV002260305]|Dystonic disorder [RCV002073184]|not provided [RCV001678345] | benign|likely benign | 11 | 26553237 | 26553237 | Human | 3 | name , alternate_id |
| 150469519 | CV1259672 | single nucleotide variant | NM_031418.4(ANO3):c.738-73T>A | Dystonia 24 [RCV002260309]|not provided [RCV001683973] | benign | 11 | 26531132 | 26531132 | Human | 1 | name , alternate_id |
| 150455047 | CV1261089 | deletion | NM_031418.4(ANO3):c.46+139del | not provided [RCV001681287] | benign | 11 | 26332445 | 26332445 | Human | | name |
| 150485591 | CV1262125 | single nucleotide variant | NM_031418.4(ANO3):c.314-81G>C | not provided [RCV001686816] | benign | 11 | 26462949 | 26462949 | Human | | name |
| 150462827 | CV1263716 | single nucleotide variant | NM_031418.4(ANO3):c.738-50T>C | Dystonia 24 [RCV002260333]|not provided [RCV001682417] | benign | 11 | 26531155 | 26531155 | Human | 1 | name , alternate_id |
| 150459397 | CV1264012 | duplication | NM_031418.4(ANO3):c.46+139dup | not provided [RCV001681927] | benign | 11 | 26332444 | 26332445 | Human | | name |
| 151886826 | CV1455288 | single nucleotide variant | NM_031418.4(ANO3):c.2658-3C>T | Dystonic disorder [RCV002038057] | uncertain significance | 11 | 26656373 | 26656373 | Human | 2 | name |
| 151787998 | CV1510130 | single nucleotide variant | NM_031418.4(ANO3):c.2764-5T>G | ANO3-related disorder [RCV003976261]|Dystonic disorder [RCV001916530]|not provided [RCV004693944] | likely benign|uncertain significance | 11 | 26660257 | 26660257 | Human | 3 | name , trait , alternate_id |
| 152050708 | CV1527811 | single nucleotide variant | NM_031418.4(ANO3):c.1386+7G>A | Dystonic disorder [RCV002089119] | likely benign | 11 | 26553352 | 26553352 | Human | 2 | name |
| 152079753 | CV1666838 | single nucleotide variant | NM_031418.4(ANO3):c.2141+1G>A | Dystonic disorder [RCV003089116]|not provided [RCV002211183] | uncertain significance | 11 | 26639242 | 26639242 | Human | 2 | name |
| 156149448 | CV1878868 | single nucleotide variant | NM_031418.4(ANO3):c.869+19T>A | Dystonic disorder [RCV003056478] | likely benign | 11 | 26531355 | 26531355 | Human | 2 | name |
| 156148490 | CV1932434 | single nucleotide variant | NM_031418.4(ANO3):c.2276-6T>C | Dystonic disorder [RCV002623918] | uncertain significance | 11 | 26643176 | 26643176 | Human | 2 | name |
| 156331755 | CV1966561 | single nucleotide variant | NM_031418.4(ANO3):c.241+18T>C | Dystonic disorder [RCV002600833] | likely benign | 11 | 26442130 | 26442130 | Human | 2 | name |
| 156003412 | CV2014872 | single nucleotide variant | NM_031418.4(ANO3):c.1033-9C>G | Dystonic disorder [RCV002690162] | benign | 11 | 26541938 | 26541938 | Human | 2 | name |
| 156167060 | CV2019784 | single nucleotide variant | NM_031418.4(ANO3):c.2576+9T>G | Dystonic disorder [RCV002710371] | likely benign | 11 | 26647865 | 26647865 | Human | 2 | name |
| 156009516 | CV2045351 | single nucleotide variant | NM_031418.4(ANO3):c.1447+5G>A | Dystonic disorder [RCV002780063] | uncertain significance | 11 | 26559784 | 26559784 | Human | 2 | name |
| 155915590 | CV2063131 | single nucleotide variant | NM_031418.4(ANO3):c.738-11C>A | Dystonic disorder [RCV002838035] | likely benign | 11 | 26531194 | 26531194 | Human | 2 | name |
| 156162373 | CV2096940 | single nucleotide variant | NM_031418.4(ANO3):c.592-17C>T | Dystonic disorder [RCV002872709] | likely benign | 11 | 26516810 | 26516810 | Human | 2 | name |
| 156192807 | CV2099067 | single nucleotide variant | NM_031418.4(ANO3):c.592-12T>C | Dystonic disorder [RCV002917505] | benign | 11 | 26516815 | 26516815 | Human | 2 | name |
| 156135843 | CV2105709 | single nucleotide variant | NM_031418.4(ANO3):c.870-13C>T | Dystonic disorder [RCV002914721] | likely benign | 11 | 26534443 | 26534443 | Human | 2 | name |
| 156030469 | CV2117361 | single nucleotide variant | NM_031418.4(ANO3):c.693-14T>C | Dystonic disorder [RCV002923492] | likely benign | 11 | 26525621 | 26525621 | Human | 2 | name |
| 156358119 | CV2162186 | single nucleotide variant | NM_031418.4(ANO3):c.2577-2A>G | Dystonic disorder [RCV003031373] | uncertain significance | 11 | 26656123 | 26656123 | Human | 2 | name |
| 156166615 | CV2169663 | single nucleotide variant | NM_031418.4(ANO3):c.2276-3C>T | Dystonic disorder [RCV003023385] | uncertain significance | 11 | 26643179 | 26643179 | Human | 2 | name |
| 405158301 | CV2860888 | single nucleotide variant | NM_031418.4(ANO3):c.1386+6T>G | Dystonic disorder [RCV003586493] | uncertain significance | 11 | 26553351 | 26553351 | Human | 2 | name |
| 405160670 | CV2863215 | single nucleotide variant | NM_031418.4(ANO3):c.977-14T>A | Dystonic disorder [RCV003586705] | likely benign | 11 | 26537392 | 26537392 | Human | 2 | name |
| 405170259 | CV2902984 | single nucleotide variant | NM_031418.4(ANO3):c.1386+3G>A | Dystonic disorder [RCV003587530] | uncertain significance | 11 | 26553348 | 26553348 | Human | 2 | name |
| 405248146 | CV2942662 | single nucleotide variant | NM_031418.4(ANO3):c.2576+6G>T | Dystonic disorder [RCV003746689] | uncertain significance | 11 | 26647862 | 26647862 | Human | 2 | name |
| 405249272 | CV2976910 | single nucleotide variant | NM_031418.4(ANO3):c.1531-9C>T | Dystonic disorder [RCV003747044] | likely benign | 11 | 26598849 | 26598849 | Human | 2 | name |
| 405250483 | CV3063038 | single nucleotide variant | NM_031418.4(ANO3):c.870-17T>C | Dystonic disorder [RCV003747548] | likely benign | 11 | 26534439 | 26534439 | Human | 2 | name |
| 405250198 | CV3063431 | deletion | NM_031418.4(ANO3):c.976+20del | Dystonic disorder [RCV003747448] | likely benign | 11 | 26534581 | 26534581 | Human | 2 | name |
| 405250604 | CV3071212 | single nucleotide variant | NM_031418.4(ANO3):c.737+12A>G | Dystonic disorder [RCV003747599] | uncertain significance | 11 | 26525691 | 26525691 | Human | 2 | name |
| 402470062 | CV3171055 | single nucleotide variant | NM_031418.4(ANO3):c.2043+1G>A | Dystonic disorder [RCV003874018] | uncertain significance | 11 | 26635071 | 26635071 | Human | 2 | name |
| 404981846 | CV3179627 | single nucleotide variant | NM_031418.4(ANO3):c.433-18T>C | Dystonic disorder [RCV003880608] | likely benign | 11 | 26508086 | 26508086 | Human | 2 | name |
| 404982257 | CV3184177 | single nucleotide variant | NM_031418.4(ANO3):c.1155-3C>T | Dystonic disorder [RCV003880669] | uncertain significance | 11 | 26547413 | 26547413 | Human | 2 | name |
| 405269497 | CV3201683 | single nucleotide variant | NM_031418.4(ANO3):c.1154+4C>T | ANO3-related disorder [RCV003899590] | likely benign | 11 | 26542072 | 26542072 | Human | | name , trait , alternate_id |
| 408393766 | CV3519915 | single nucleotide variant | NM_031418.4(ANO3):c.2657+1G>T | not provided [RCV004764211] | uncertain significance | 11 | 26656206 | 26656206 | Human | | name |
| 597918077 | CV3842070 | single nucleotide variant | NM_031418.4(ANO3):c.242-19G>A | Dystonic disorder [RCV005183745] | likely benign | 11 | 26443746 | 26443746 | Human | 2 | name |
| 13500475 | CV461800 | single nucleotide variant | NM_031418.4(ANO3):c.1290-6C>T | Dystonic disorder [RCV000540433]|not provided [RCV001591191] | likely benign | 11 | 26553243 | 26553243 | Human | 2 | name |
| 13497987 | CV461803 | single nucleotide variant | NM_031418.4(ANO3):c.2043+9C>A | Dystonic disorder [RCV000538958] | likely benign | 11 | 26635079 | 26635079 | Human | 2 | name |
| 15160421 | CV690002 | single nucleotide variant | NM_031418.4(ANO3):c.1033-4G>T | not provided [RCV000869010] | likely benign | 11 | 26541943 | 26541943 | Human | | name |
| 15154021 | CV690003 | single nucleotide variant | NM_031418.4(ANO3):c.1531-3T>C | Dystonic disorder [RCV001518788] | benign | 11 | 26598855 | 26598855 | Human | 2 | name |
| 15135780 | CV690004 | single nucleotide variant | NM_031418.4(ANO3):c.2429-9T>C | Dystonic disorder [RCV005092557] | likely benign | 11 | 26647700 | 26647700 | Human | 2 | name |
| 126730900 | CV1030180 | single nucleotide variant | NM_031418.4(ANO3):c.2658-10T>C | Dystonic disorder [RCV001349339] | likely benign|uncertain significance | 11 | 26656366 | 26656366 | Human | 2 | name |
| 150336045 | CV1165031 | single nucleotide variant | NM_031418.4(ANO3):c.2142-49A>G | Dystonia 24 [RCV002260174]|not provided [RCV001530665] | benign | 11 | 26641847 | 26641847 | Human | 1 | name , alternate_id |
| 150333933 | CV1169456 | single nucleotide variant | NM_031418.4(ANO3):c.869+226C>T | not provided [RCV001537541] | likely benign | 11 | 26531562 | 26531562 | Human | | name |
| 150331031 | CV1172245 | single nucleotide variant | NM_031418.4(ANO3):c.2043+97C>G | Dystonia 24 [RCV002260183]|not provided [RCV001538436] | benign | 11 | 26635167 | 26635167 | Human | 1 | name , alternate_id |
| 150332019 | CV1172246 | single nucleotide variant | NM_031418.4(ANO3):c.2429-89A>C | not provided [RCV001538872] | benign | 11 | 26647620 | 26647620 | Human | | name |
| 150330536 | CV1172247 | single nucleotide variant | NM_031418.4(ANO3):c.2657+44A>T | Dystonia 24 [RCV002260182]|not provided [RCV001538137] | benign|likely benign | 11 | 26656249 | 26656249 | Human | 1 | name , alternate_id |
| 150409097 | CV1177445 | duplication | NM_031418.4(ANO3):c.1290-20dup | not provided [RCV001546126] | likely benign | 11 | 26553224 | 26553225 | Human | | name |
| 150420549 | CV1180818 | single nucleotide variant | NM_031418.4(ANO3):c.432+165A>G | not provided [RCV001551599] | likely benign | 11 | 26463313 | 26463313 | Human | | name |
| 150422370 | CV1180819 | deletion | NM_031418.4(ANO3):c.1290-14del | Dystonia 24 [RCV002260195]|Dystonic disorder [RCV002072054]|not provided [RCV001552538] | benign|likely benign | 11 | 26553231 | 26553231 | Human | 3 | name , alternate_id |
| 150429112 | CV1187734 | single nucleotide variant | NM_031418.4(ANO3):c.692+148T>C | not provided [RCV001563172] | likely benign | 11 | 26517075 | 26517075 | Human | | name |
| 150427997 | CV1187735 | single nucleotide variant | NM_031418.4(ANO3):c.693-154C>T | not provided [RCV001561672] | likely benign | 11 | 26525481 | 26525481 | Human | | name |
| 150426431 | CV1187737 | single nucleotide variant | NM_031418.4(ANO3):c.2576+80T>C | not provided [RCV001559576] | likely benign | 11 | 26647936 | 26647936 | Human | | name |
| 150415471 | CV1191211 | single nucleotide variant | NM_031418.4(ANO3):c.591+270A>G | not provided [RCV001567999] | likely benign | 11 | 26508532 | 26508532 | Human | | name |
| 150417354 | CV1194489 | single nucleotide variant | NM_031418.4(ANO3):c.1032+15C>T | Dystonia 24 [RCV002260205]|Dystonic disorder [RCV002072188]|not provided [RCV001568731] | benign|likely benign | 11 | 26537476 | 26537476 | Human | 3 | name , alternate_id |
| 150404687 | CV1194491 | single nucleotide variant | NM_031418.4(ANO3):c.1836+19A>G | Dystonia 24 [RCV002260206]|Dystonic disorder [RCV002072217]|not provided [RCV001571290] | benign|likely benign | 11 | 26599733 | 26599733 | Human | 3 | name , alternate_id |
| 150415684 | CV1198196 | single nucleotide variant | NM_031418.4(ANO3):c.314-276G>A | not provided [RCV001575510] | likely benign | 11 | 26462754 | 26462754 | Human | | name |
| 150421057 | CV1198197 | single nucleotide variant | NM_031418.4(ANO3):c.737+119G>T | not provided [RCV001577877] | likely benign | 11 | 26525798 | 26525798 | Human | | name |
| 150495524 | CV1205028 | single nucleotide variant | NM_031418.4(ANO3):c.693-113A>G | not provided [RCV001593520] | likely benign | 11 | 26525522 | 26525522 | Human | | name |
| 150468806 | CV1207467 | single nucleotide variant | NM_031418.4(ANO3):c.1290-13G>A | Dystonic disorder [RCV002070449]|not provided [RCV001588156] | likely benign | 11 | 26553236 | 26553236 | Human | 2 | name |
| 150490237 | CV1208579 | single nucleotide variant | NM_031418.4(ANO3):c.591+243G>A | not provided [RCV001592440] | likely benign | 11 | 26508505 | 26508505 | Human | | name |
| 150499024 | CV1209016 | single nucleotide variant | NM_031418.4(ANO3):c.1985+28C>T | not provided [RCV001594233] | likely benign | 11 | 26634343 | 26634343 | Human | | name |
| 150491995 | CV1210457 | single nucleotide variant | NM_031418.4(ANO3):c.1290-44T>C | not provided [RCV001592739] | likely benign | 11 | 26553205 | 26553205 | Human | | name |
| 150507394 | CV1211164 | single nucleotide variant | NM_031418.4(ANO3):c.693-195A>G | not provided [RCV001596283] | benign | 11 | 26525440 | 26525440 | Human | | name |
| 150514722 | CV1212110 | single nucleotide variant | NM_031418.4(ANO3):c.738-305A>C | not provided [RCV001599179] | benign | 11 | 26530900 | 26530900 | Human | | name |
| 150508479 | CV1214055 | single nucleotide variant | NM_031418.4(ANO3):c.433-126C>T | not provided [RCV001596576] | likely benign | 11 | 26507978 | 26507978 | Human | | name |
| 150485582 | CV1223026 | single nucleotide variant | NM_031418.4(ANO3):c.869+174G>A | not provided [RCV001617739] | benign | 11 | 26531510 | 26531510 | Human | | name |
| 150462016 | CV1231550 | single nucleotide variant | NM_031418.4(ANO3):c.692+163C>T | not provided [RCV001641117] | benign | 11 | 26517090 | 26517090 | Human | | name |
| 150460300 | CV1236229 | single nucleotide variant | NM_031418.4(ANO3):c.1874-93G>A | not provided [RCV001649200] | benign | 11 | 26634111 | 26634111 | Human | | name |
| 150463894 | CV1237698 | single nucleotide variant | NM_031418.4(ANO3):c.737+122G>A | not provided [RCV001649704] | benign | 11 | 26525801 | 26525801 | Human | | name |
| 150500645 | CV1238219 | single nucleotide variant | NM_031418.4(ANO3):c.692+300G>A | not provided [RCV001656649] | benign | 11 | 26517227 | 26517227 | Human | | name |
| 150503667 | CV1241851 | single nucleotide variant | NM_031418.4(ANO3):c.976+286G>A | not provided [RCV001657443] | benign | 11 | 26534848 | 26534848 | Human | | name |
| 150435617 | CV1244465 | deletion | NM_031418.4(ANO3):c.1290-13del | Dystonia 24 [RCV002260270]|Dystonic disorder [RCV002073059]|not provided [RCV001665456] | benign | 11 | 26553236 | 26553236 | Human | 3 | name , alternate_id |
| 150485347 | CV1250209 | single nucleotide variant | NM_031418.4(ANO3):c.1448-40T>C | Dystonia 24 [RCV002260282]|not provided [RCV001673822] | benign | 11 | 26598325 | 26598325 | Human | 1 | name , alternate_id |
| 150445984 | CV1250598 | single nucleotide variant | NM_031418.4(ANO3):c.1154+37T>G | Dystonia 24 [RCV002260291]|not provided [RCV001667102] | benign | 11 | 26542105 | 26542105 | Human | 1 | name , alternate_id |
| 150472607 | CV1252272 | duplication | NM_031418.4(ANO3):c.592-143dup | not provided [RCV001671473] | benign | 11 | 26516676 | 26516677 | Human | | name |
| 150452863 | CV1255020 | single nucleotide variant | NM_031418.4(ANO3):c.1033-30A>T | Dystonia 24 [RCV002260295]|not provided [RCV001668079] | benign | 11 | 26541917 | 26541917 | Human | 1 | name , alternate_id |
| 150471032 | CV1258723 | single nucleotide variant | NM_031418.4(ANO3):c.592-255G>T | not provided [RCV001684269] | benign | 11 | 26516572 | 26516572 | Human | | name |
| 150452206 | CV1260362 | single nucleotide variant | NM_031418.4(ANO3):c.592-307C>T | not provided [RCV001680852] | benign | 11 | 26516520 | 26516520 | Human | | name |
| 150449310 | CV1260804 | single nucleotide variant | NM_031418.4(ANO3):c.2043+35G>A | not provided [RCV001680473] | benign | 11 | 26635105 | 26635105 | Human | | name |
| 150473089 | CV1262843 | single nucleotide variant | NM_031418.4(ANO3):c.977-112G>A | not provided [RCV001684659] | benign | 11 | 26537294 | 26537294 | Human | | name |
| 150483867 | CV1263061 | single nucleotide variant | NM_031418.4(ANO3):c.692+274G>A | not provided [RCV001686461] | benign | 11 | 26517201 | 26517201 | Human | | name |
| 150488692 | CV1265288 | deletion | NM_031418.4(ANO3):c.1290-19del | Dystonia 24 [RCV002260329]|Dystonic disorder [RCV002073217]|not provided [RCV001687324] | benign | 11 | 26553230 | 26553230 | Human | 3 | name , alternate_id |
| 150468329 | CV1267921 | single nucleotide variant | NM_031418.4(ANO3):c.1290-25G>T | Dystonia 24 [RCV002260339]|not provided [RCV001694784] | benign | 11 | 26553224 | 26553224 | Human | 1 | name , alternate_id |
| 150496712 | CV1271600 | single nucleotide variant | NM_031418.4(ANO3):c.1290-19G>T | Dystonia 24 [RCV002260348]|Dystonic disorder [RCV002073246]|not provided [RCV001688901] | benign | 11 | 26553230 | 26553230 | Human | 3 | name , alternate_id |
| 150461698 | CV1275988 | single nucleotide variant | NM_031418.4(ANO3):c.313+117G>A | not provided [RCV001709926] | benign | 11 | 26443953 | 26443953 | Human | | name |
| 150445314 | CV1278131 | single nucleotide variant | NM_031418.4(ANO3):c.1290-56T>C | Dystonia 24 [RCV002260372]|not provided [RCV001707274] | benign | 11 | 26553193 | 26553193 | Human | 1 | name , alternate_id |
| 150447776 | CV1278368 | single nucleotide variant | NM_031418.4(ANO3):c.1290-13G>T | Dystonia 24 [RCV002260373]|Dystonic disorder [RCV002073316]|not provided [RCV001707882] | benign | 11 | 26553236 | 26553236 | Human | 3 | name , alternate_id |
| 150457597 | CV1278649 | single nucleotide variant | NM_031418.4(ANO3):c.976+145A>G | not provided [RCV001709264] | benign | 11 | 26534707 | 26534707 | Human | | name |
| 150476572 | CV1279281 | single nucleotide variant | NM_031418.4(ANO3):c.693-197G>A | not provided [RCV001714002] | benign | 11 | 26525438 | 26525438 | Human | | name |
| 150483756 | CV1280279 | single nucleotide variant | NM_031418.4(ANO3):c.2658-56T>C | Dystonia 24 [RCV002260377]|not provided [RCV001715241] | benign | 11 | 26656320 | 26656320 | Human | 1 | name , alternate_id |
| 150484556 | CV1280499 | single nucleotide variant | NM_031418.4(ANO3):c.737+127T>G | not provided [RCV001715406] | benign | 11 | 26525806 | 26525806 | Human | | name |
| 150539054 | CV1295010 | single nucleotide variant | NM_031418.4(ANO3):c.1874-21T>A | not provided [RCV001764971] | benign | 11 | 26634183 | 26634183 | Human | | name |
| 152175786 | CV1527201 | single nucleotide variant | NM_031418.4(ANO3):c.2141+12A>G | Dystonic disorder [RCV002163923] | likely benign | 11 | 26639253 | 26639253 | Human | 2 | name |
| 152093261 | CV1584726 | duplication | NM_031418.4(ANO3):c.2275+20dup | Dystonia 24 [RCV002260417]|Dystonic disorder [RCV002114364] | benign | 11 | 26642048 | 26642049 | Human | 3 | name , alternate_id |
| 152121767 | CV1662291 | duplication | NM_031418.4(ANO3):c.1290-14dup | Dystonic disorder [RCV002117939] | benign | 11 | 26553230 | 26553231 | Human | 2 | name |
| 156012591 | CV1880599 | single nucleotide variant | NM_031418.4(ANO3):c.1671+17G>A | Dystonic disorder [RCV003077177] | likely benign | 11 | 26599015 | 26599015 | Human | 2 | name |
| 156388986 | CV1888430 | single nucleotide variant | NM_031418.4(ANO3):c.2576+16A>G | Dystonic disorder [RCV003067816] | likely benign | 11 | 26647872 | 26647872 | Human | 2 | name |
| 156402517 | CV1889361 | single nucleotide variant | NM_031418.4(ANO3):c.1874-11G>A | Dystonic disorder [RCV003069301] | likely benign | 11 | 26634193 | 26634193 | Human | 2 | name |
| 156015833 | CV1912787 | single nucleotide variant | NM_031418.4(ANO3):c.1874-20G>A | Dystonic disorder [RCV002619138] | benign | 11 | 26634184 | 26634184 | Human | 2 | name |
| 156371256 | CV1923569 | single nucleotide variant | NM_031418.4(ANO3):c.1154+13G>A | Dystonic disorder [RCV002633405] | likely benign | 11 | 26542081 | 26542081 | Human | 2 | name |
| 155958960 | CV2040329 | single nucleotide variant | NM_031418.4(ANO3):c.1387-18T>C | Dystonic disorder [RCV002776167] | likely benign | 11 | 26559701 | 26559701 | Human | 2 | name |
| 156291929 | CV2055362 | single nucleotide variant | NM_031418.4(ANO3):c.1986-20A>G | Dystonic disorder [RCV002833241] | likely benign | 11 | 26634993 | 26634993 | Human | 2 | name |
| 156331475 | CV2061375 | single nucleotide variant | NM_031418.4(ANO3):c.2275+19C>G | Dystonic disorder [RCV002810704] | likely benign | 11 | 26642048 | 26642048 | Human | 2 | name |
| 155918693 | CV2102246 | single nucleotide variant | NM_031418.4(ANO3):c.2428+12A>T | Dystonic disorder [RCV002903235] | likely benign | 11 | 26643346 | 26643346 | Human | 2 | name |
| 156114373 | CV2136345 | single nucleotide variant | NM_031418.4(ANO3):c.2275+20A>G | Dystonic disorder [RCV003002725] | likely benign | 11 | 26642049 | 26642049 | Human | 2 | name |
| 155942542 | CV2143060 | single nucleotide variant | NM_031418.4(ANO3):c.2657+16A>G | Dystonic disorder [RCV002994149] | likely benign | 11 | 26656221 | 26656221 | Human | 2 | name |
| 329955084 | CV2671025 | single nucleotide variant | NM_031418.4(ANO3):c.1448-18C>T | not specified [RCV003236294] | uncertain significance | 11 | 26598347 | 26598347 | Human | | name |
| 405163918 | CV2869466 | single nucleotide variant | NM_031418.4(ANO3):c.1290-14T>G | Dystonic disorder [RCV003586967] | likely benign | 11 | 26553235 | 26553235 | Human | 2 | name |
| 405161726 | CV2878420 | single nucleotide variant | NM_031418.4(ANO3):c.2577-20A>G | Dystonic disorder [RCV003586792] | benign | 11 | 26656105 | 26656105 | Human | 2 | name |
| 405172698 | CV2914044 | single nucleotide variant | NM_031418.4(ANO3):c.1290-17T>G | Dystonic disorder [RCV003587761] | likely benign | 11 | 26553232 | 26553232 | Human | 2 | name |
| 405248210 | CV2936812 | duplication | NM_031418.4(ANO3):c.2275+14dup | Dystonic disorder [RCV003746707] | benign | 11 | 26642035 | 26642036 | Human | 2 | name |
| 405249425 | CV2985351 | single nucleotide variant | NM_031418.4(ANO3):c.1837-18T>C | Dystonic disorder [RCV003747121] | likely benign | 11 | 26624444 | 26624444 | Human | 2 | name |
| 405250140 | CV3009183 | single nucleotide variant | NM_031418.4(ANO3):c.1531-13G>A | Dystonic disorder [RCV003747423] | likely benign | 11 | 26598845 | 26598845 | Human | 2 | name |
| 405246772 | CV3014359 | single nucleotide variant | NM_031418.4(ANO3):c.2275+14A>T | Dystonic disorder [RCV003746113] | likely benign | 11 | 26642043 | 26642043 | Human | 2 | name |
| 405246995 | CV3019468 | single nucleotide variant | NM_031418.4(ANO3):c.2577-11T>C | Dystonic disorder [RCV003746194] | likely benign|uncertain significance | 11 | 26656114 | 26656114 | Human | 2 | name |
| 405247586 | CV3051261 | single nucleotide variant | NM_031418.4(ANO3):c.2044-13T>C | Dystonic disorder [RCV003746428] | likely benign | 11 | 26639131 | 26639131 | Human | 2 | name |
| 405250376 | CV3058599 | single nucleotide variant | NM_031418.4(ANO3):c.2428+10G>A | Dystonic disorder [RCV003747500] | likely benign | 11 | 26643344 | 26643344 | Human | 2 | name |
| 405250744 | CV3080910 | single nucleotide variant | NM_031418.4(ANO3):c.2044-20G>A | Dystonic disorder [RCV003747680] | likely benign | 11 | 26639124 | 26639124 | Human | 2 | name |
| 405250751 | CV3080948 | deletion | NM_031418.4(ANO3):c.2275+14del | Dystonic disorder [RCV003747683] | benign | 11 | 26642036 | 26642036 | Human | 2 | name |
| 405072917 | CV3145463 | single nucleotide variant | NM_031418.4(ANO3):c.1448-11A>T | Dystonic disorder [RCV003851048] | likely benign | 11 | 26598354 | 26598354 | Human | 2 | name |
| 402476300 | CV3173781 | single nucleotide variant | NM_031418.4(ANO3):c.1874-13G>A | Dystonic disorder [RCV003875319] | likely benign | 11 | 26634191 | 26634191 | Human | 2 | name |
| 597971965 | CV3798973 | single nucleotide variant | NM_031418.4(ANO3):c.1671+16C>T | Dystonic disorder [RCV005142385] | likely benign | 11 | 26599014 | 26599014 | Human | 2 | name |
| 597936200 | CV3807592 | single nucleotide variant | NM_031418.4(ANO3):c.1290-20T>G | Dystonic disorder [RCV005157970] | likely benign | 11 | 26553229 | 26553229 | Human | 2 | name |
| 597957686 | CV3814432 | single nucleotide variant | NM_031418.4(ANO3):c.1671+19T>C | Dystonic disorder [RCV005162763] | uncertain significance | 11 | 26599017 | 26599017 | Human | 2 | name |
| 597976365 | CV3829584 | single nucleotide variant | NM_031418.4(ANO3):c.2657+10A>G | Dystonic disorder [RCV005169851] | likely benign | 11 | 26656215 | 26656215 | Human | 2 | name |
| 597924615 | CV3863127 | single nucleotide variant | NM_031418.4(ANO3):c.1290-18T>C | Dystonic disorder [RCV005205615] | likely benign | 11 | 26553231 | 26553231 | Human | 2 | name |
| 150339485 | CV1167525 | single nucleotide variant | NM_031418.4(ANO3):c.1837-226A>G | not provided [RCV001534271] | benign | 11 | 26624236 | 26624236 | Human | | name |
| 150420968 | CV1180820 | single nucleotide variant | NM_031418.4(ANO3):c.1672-199A>G | not provided [RCV001551799] | likely benign | 11 | 26599351 | 26599351 | Human | | name |
| 150417300 | CV1180821 | single nucleotide variant | NM_031418.4(ANO3):c.1873+135G>A | not provided [RCV001550059] | likely benign | 11 | 26624633 | 26624633 | Human | | name |
| 150427861 | CV1187738 | single nucleotide variant | NM_031418.4(ANO3):c.2577-240A>G | not provided [RCV001561489] | likely benign | 11 | 26655885 | 26655885 | Human | | name |
| 150405030 | CV1191213 | single nucleotide variant | NM_031418.4(ANO3):c.1874-239C>A | not provided [RCV001564095] | likely benign | 11 | 26633965 | 26633965 | Human | | name |
| 150405884 | CV1191214 | single nucleotide variant | NM_031418.4(ANO3):c.2043+279A>T | not provided [RCV001564490] | likely benign | 11 | 26635349 | 26635349 | Human | | name |
| 150407426 | CV1194490 | single nucleotide variant | NM_031418.4(ANO3):c.1448-206A>T | not provided [RCV001572338] | likely benign | 11 | 26598159 | 26598159 | Human | | name |
| 150432537 | CV1200679 | single nucleotide variant | NM_031418.4(ANO3):c.1837-180A>C | not provided [RCV001581402] | likely benign | 11 | 26624282 | 26624282 | Human | | name |
| 150459378 | CV1202916 | single nucleotide variant | NM_031418.4(ANO3):c.2429-308C>T | not provided [RCV001586569] | likely benign | 11 | 26647401 | 26647401 | Human | | name |
| 150486797 | CV1203355 | single nucleotide variant | NM_031418.4(ANO3):c.2141+258G>C | not provided [RCV001591533] | likely benign | 11 | 26639499 | 26639499 | Human | | name |
| 150430824 | CV1204020 | single nucleotide variant | NM_031418.4(ANO3):c.2764-308G>A | not provided [RCV001580795] | likely benign | 11 | 26659954 | 26659954 | Human | | name |
| 150461142 | CV1215769 | single nucleotide variant | NM_031418.4(ANO3):c.1837-115A>T | not provided [RCV001613471] | benign | 11 | 26624347 | 26624347 | Human | | name |
| 150447082 | CV1216058 | single nucleotide variant | NM_031418.4(ANO3):c.1837-198A>G | not provided [RCV001611356] | benign | 11 | 26624264 | 26624264 | Human | | name |
| 150515259 | CV1217433 | single nucleotide variant | NM_031418.4(ANO3):c.2275+286T>A | not provided [RCV001608338] | benign | 11 | 26642315 | 26642315 | Human | | name |
| 150477969 | CV1218708 | single nucleotide variant | NM_031418.4(ANO3):c.1290-166A>G | not provided [RCV001616335] | benign | 11 | 26553083 | 26553083 | Human | | name |
| 150468526 | CV1218926 | single nucleotide variant | NM_031418.4(ANO3):c.1986-190T>C | not provided [RCV001614678] | benign | 11 | 26634823 | 26634823 | Human | | name |
| 150457754 | CV1219659 | single nucleotide variant | NM_031418.4(ANO3):c.1448-254G>A | not provided [RCV001612875] | benign | 11 | 26598111 | 26598111 | Human | | name |
| 150451250 | CV1220836 | single nucleotide variant | NM_031418.4(ANO3):c.1837-301T>C | not provided [RCV001611930] | benign | 11 | 26624161 | 26624161 | Human | | name |
| 150438729 | CV1221205 | single nucleotide variant | NM_031418.4(ANO3):c.2142-189T>A | not provided [RCV001609899] | benign | 11 | 26641707 | 26641707 | Human | | name |
| 150495072 | CV1225007 | single nucleotide variant | NM_031418.4(ANO3):c.1447+198C>T | not provided [RCV001619485] | benign | 11 | 26559977 | 26559977 | Human | | name |
| 150507081 | CV1226503 | deletion | NM_031418.4(ANO3):c.1289+143del | not provided [RCV001635871] | benign | 11 | 26547693 | 26547693 | Human | | name |
| 150434195 | CV1230728 | single nucleotide variant | NM_031418.4(ANO3):c.1874-109A>T | not provided [RCV001643674] | benign | 11 | 26634095 | 26634095 | Human | | name |
| 150430347 | CV1230834 | single nucleotide variant | NM_031418.4(ANO3):c.2142-190A>T | not provided [RCV001641383] | benign | 11 | 26641706 | 26641706 | Human | | name |
| 150451683 | CV1232834 | single nucleotide variant | NM_031418.4(ANO3):c.2142-145T>A | not provided [RCV001647909] | benign | 11 | 26641751 | 26641751 | Human | | name |
| 150463103 | CV1235007 | single nucleotide variant | NM_031418.4(ANO3):c.1874-299C>A | not provided [RCV001649589] | benign | 11 | 26633905 | 26633905 | Human | | name |
| 150495133 | CV1241518 | single nucleotide variant | NM_031418.4(ANO3):c.1033-312G>A | not provided [RCV001655525] | benign | 11 | 26541635 | 26541635 | Human | | name |
| 150485039 | CV1250146 | single nucleotide variant | NM_031418.4(ANO3):c.1289+305G>A | not provided [RCV001673759] | benign | 11 | 26547855 | 26547855 | Human | | name |
| 150485515 | CV1250242 | single nucleotide variant | NM_031418.4(ANO3):c.2576+193C>T | not provided [RCV001673855] | benign | 11 | 26648049 | 26648049 | Human | | name |
| 150472106 | CV1252191 | single nucleotide variant | NM_031418.4(ANO3):c.1290-205T>A | not provided [RCV001671392] | benign | 11 | 26553044 | 26553044 | Human | | name |
| 150473169 | CV1252363 | single nucleotide variant | NM_031418.4(ANO3):c.1448-144G>A | not provided [RCV001671565] | benign | 11 | 26598221 | 26598221 | Human | | name |
| 150474809 | CV1252917 | single nucleotide variant | NM_031418.4(ANO3):c.2275+295C>T | not provided [RCV001671825] | benign | 11 | 26642324 | 26642324 | Human | | name |
| 150475045 | CV1252951 | single nucleotide variant | NM_031418.4(ANO3):c.2576+151A>G | not provided [RCV001671859] | benign | 11 | 26648007 | 26648007 | Human | | name |
| 150467785 | CV1255963 | single nucleotide variant | NM_031418.4(ANO3):c.1874-298A>G | not provided [RCV001670597] | benign | 11 | 26633906 | 26633906 | Human | | name |
| 150500884 | CV1256185 | single nucleotide variant | NM_031418.4(ANO3):c.1033-313T>C | not provided [RCV001676809] | benign | 11 | 26541634 | 26541634 | Human | | name |
| 150470893 | CV1258688 | single nucleotide variant | NM_031418.4(ANO3):c.1530+107T>C | not provided [RCV001684234] | benign | 11 | 26598554 | 26598554 | Human | | name |
| 150471708 | CV1259169 | single nucleotide variant | NM_031418.4(ANO3):c.1289+143G>T | not provided [RCV001684414] | benign | 11 | 26547693 | 26547693 | Human | | name |
| 150477484 | CV1262508 | single nucleotide variant | NM_031418.4(ANO3):c.2043+131A>C | not provided [RCV001685321] | benign | 11 | 26635201 | 26635201 | Human | | name |
| 150486601 | CV1262601 | single nucleotide variant | NM_031418.4(ANO3):c.2142-139A>T | not provided [RCV001686998] | benign | 11 | 26641757 | 26641757 | Human | | name |
| 150460773 | CV1264222 | single nucleotide variant | NM_031418.4(ANO3):c.1874-195C>T | not provided [RCV001682139] | benign | 11 | 26634009 | 26634009 | Human | | name |
| 150462260 | CV1264711 | single nucleotide variant | NM_031418.4(ANO3):c.1672-133T>G | not provided [RCV001682335] | benign | 11 | 26599417 | 26599417 | Human | | name |
| 150492774 | CV1268306 | single nucleotide variant | NM_031418.4(ANO3):c.1874-160T>C | not provided [RCV001688038] | benign | 11 | 26634044 | 26634044 | Human | | name |
| 150470457 | CV1269848 | single nucleotide variant | NM_031418.4(ANO3):c.2142-159T>C | not provided [RCV001695135] | benign | 11 | 26641737 | 26641737 | Human | | name |
| 150436549 | CV1270975 | single nucleotide variant | NM_031418.4(ANO3):c.1874-127T>C | not provided [RCV001689525] | benign | 11 | 26634077 | 26634077 | Human | | name |
| 150497961 | CV1271429 | deletion | NM_031418.4(ANO3):c.2043+278del | not provided [RCV001689119] | benign | 11 | 26635340 | 26635340 | Human | | name |
| 150495556 | CV1272661 | single nucleotide variant | NM_031418.4(ANO3):c.1032+164G>A | not provided [RCV001688584] | benign | 11 | 26537625 | 26537625 | Human | | name |
| 150464051 | CV1276318 | single nucleotide variant | NM_031418.4(ANO3):c.2142-197A>T | not provided [RCV001710263] | benign | 11 | 26641699 | 26641699 | Human | | name |
| 150451611 | CV1276617 | single nucleotide variant | NM_031418.4(ANO3):c.1290-253T>G | not provided [RCV001708406] | benign | 11 | 26552996 | 26552996 | Human | | name |
| 150445519 | CV1278165 | single nucleotide variant | NM_031418.4(ANO3):c.2429-161G>A | not provided [RCV001707308] | benign | 11 | 26647548 | 26647548 | Human | | name |
| 150425705 | CV1184515 | microsatellite | NM_031418.4(ANO3):c.1447+57AC[22] | not provided [RCV001558360] | likely benign | 11 | 26559835 | 26559836 | Human | | name |
| 150477593 | CV1218647 | microsatellite | NM_031418.4(ANO3):c.1447+57AC[21] | Dystonia 24 [RCV002260227]|not provided [RCV001616274] | benign | 11 | 26559835 | 26559836 | Human | | name , alternate_id |
| 150486181 | CV1223152 | microsatellite | NM_031418.4(ANO3):c.1447+57AC[16] | not provided [RCV001617865] | benign | 11 | 26559836 | 26559843 | Human | | name |
| 150515541 | CV1227591 | microsatellite | NM_031418.4(ANO3):c.1447+57AC[19] | not provided [RCV001638865] | benign | 11 | 26559836 | 26559837 | Human | | name |
| 150461452 | CV1231478 | microsatellite | NM_031418.4(ANO3):c.1447+57AC[17] | not provided [RCV001641045] | benign | 11 | 26559836 | 26559841 | Human | | name |
| 150445623 | CV1233210 | microsatellite | NM_031418.4(ANO3):c.1447+57AC[18] | Dystonia 24 [RCV002260250]|not provided [RCV001645883] | benign | 11 | 26559836 | 26559839 | Human | | name , alternate_id |
| 151834691 | CV1474467 | deletion | NM_031418.4(ANO3):c.314-9_314-6del | Dystonic disorder [RCV001920845] | likely benign|uncertain significance | 11 | 26463020 | 26463023 | Human | 2 | name |
| 156116515 | CV2086451 | deletion | NM_031418.4(ANO3):c.592-9_592-7del | Dystonic disorder [RCV002871098] | likely benign | 11 | 26516816 | 26516818 | Human | 2 | name |
| 127260060 | CV1078144 | single nucleotide variant | NM_031418.4(ANO3):c.12T>C (p.His4=) | Dystonic disorder [RCV001419967] | likely benign | 11 | 26332287 | 26332287 | Human | 2 | name |
| 152056259 | CV1649490 | microsatellite | NM_031418.4(ANO3):c.314-11_314-6del | Dystonic disorder [RCV002127814] | likely benign | 11 | 26463009 | 26463014 | Human | | name |
| 150412049 | CV1198195 | duplication | NM_031418.4(ANO3):c.46+137_46+139dup | not provided [RCV001574234] | likely benign | 11 | 26332444 | 26332445 | Human | | name |
| 150495496 | CV1205021 | duplication | NM_031418.4(ANO3):c.46+138_46+139dup | not provided [RCV001593513] | likely benign | 11 | 26332444 | 26332445 | Human | | name |
| 150445699 | CV1215538 | duplication | NM_031418.4(ANO3):c.46+136_46+139dup | not provided [RCV001611131] | benign | 11 | 26332444 | 26332445 | Human | | name |
| 150490776 | CV1251083 | deletion | NM_031418.4(ANO3):c.242-80_242-77del | not provided [RCV001674751] | benign | 11 | 26443685 | 26443688 | Human | | name |
| 12885909 | CV398515 | microsatellite | NM_031418.4(ANO3):c.1290-5_1290-4del | ANO3-related disorder [RCV003912819]|Dystonia 24 [RCV002259950]|Dystonic disorder [RCV000466269]|not provided [RCV001575904] | benign|likely benign | 11 | 26553242 | 26553243 | Human | | name , trait , alternate_id |
| 15126129 | CV684249 | single nucleotide variant | NM_031418.4(ANO3):c.87G>C (p.Ser29=) | ANO3-related disorder [RCV003948077]|Dystonic disorder [RCV001423712] | likely benign | 11 | 26441958 | 26441958 | Human | 3 | name , trait , alternate_id |
| 151740288 | CV1386484 | single nucleotide variant | NM_031418.4(ANO3):c.17G>T (p.Gly6Val) | Dystonic disorder [RCV001893204] | uncertain significance | 11 | 26332292 | 26332292 | Human | 2 | name |
| 156164554 | CV1929907 | single nucleotide variant | NM_031418.4(ANO3):c.270T>C (p.Ser90=) | Dystonic disorder [RCV002624501] | likely benign | 11 | 26443793 | 26443793 | Human | 2 | name |
| 156243867 | CV2101581 | single nucleotide variant | NM_031418.4(ANO3):c.222C>T (p.Ser74=) | Dystonic disorder [RCV002895010] | likely benign | 11 | 26442093 | 26442093 | Human | 2 | name |
| 401773354 | CV2716539 | single nucleotide variant | NM_031418.4(ANO3):c.10C>A (p.His4Asn) | Inborn genetic diseases [RCV003304950] | uncertain significance | 11 | 26332285 | 26332285 | Human | 1 | name |
| 405169683 | CV2895449 | single nucleotide variant | NM_031418.4(ANO3):c.132C>T (p.Tyr44=) | Dystonic disorder [RCV003587453] | likely benign | 11 | 26442003 | 26442003 | Human | 2 | name |
| 405061611 | CV3129587 | microsatellite | NM_031418.4(ANO3):c.1290-19_1290-8del | Dystonic disorder [RCV003832856] | likely benign | 11 | 26553220 | 26553231 | Human | | name |
| 597943742 | CV3847274 | single nucleotide variant | NM_031418.4(ANO3):c.120C>T (p.Leu40=) | Dystonic disorder [RCV005188194] | likely benign | 11 | 26441991 | 26441991 | Human | 2 | name |
| 15135884 | CV687753 | single nucleotide variant | NM_031418.4(ANO3):c.180C>T (p.Thr60=) | Dystonic disorder [RCV000864393] | likely benign | 11 | 26442051 | 26442051 | Human | 2 | name |
| 127269090 | CV1078145 | single nucleotide variant | NM_031418.4(ANO3):c.387C>T (p.Asp129=) | Dystonic disorder [RCV001404546] | likely benign | 11 | 26463103 | 26463103 | Human | 2 | name |
| 127281934 | CV1078146 | single nucleotide variant | NM_031418.4(ANO3):c.648G>A (p.Thr216=) | Dystonic disorder [RCV001410775] | likely benign | 11 | 26516883 | 26516883 | Human | 2 | name |
| 127259335 | CV1099823 | single nucleotide variant | NM_031418.4(ANO3):c.417G>A (p.Lys139=) | Dystonic disorder [RCV001438337] | likely benign | 11 | 26463133 | 26463133 | Human | 2 | name |
| 127331642 | CV1142187 | single nucleotide variant | NM_031418.4(ANO3):c.546A>G (p.Thr182=) | Dystonic disorder [RCV001488966] | likely benign | 11 | 26508217 | 26508217 | Human | 2 | name |
| 150426913 | CV1187736 | duplication | NM_031418.4(ANO3):c.1290-27_1290-26dup | not provided [RCV001560213] | likely benign | 11 | 26553219 | 26553220 | Human | | name |
| 150444784 | CV1249468 | microsatellite | NM_031418.4(ANO3):c.314-314_314-312del | not provided [RCV001666901] | benign | 11 | 26462711 | 26462713 | Human | | name |
| 150492051 | CV1253863 | deletion | NM_031418.4(ANO3):c.738-284_738-281del | not provided [RCV001674959] | benign | 11 | 26530920 | 26530923 | Human | | name |
| 150454764 | CV1259454 | deletion | NM_031418.4(ANO3):c.737+263_737+264del | not provided [RCV001681228] | benign | 11 | 26525942 | 26525943 | Human | | name |
| 150460845 | CV1264232 | deletion | NM_031418.4(ANO3):c.693-251_693-248del | not provided [RCV001682149] | benign | 11 | 26525383 | 26525386 | Human | | name |
| 152123185 | CV1664480 | deletion | NM_031418.4(ANO3):c.1290-19_1290-18del | Dystonic disorder [RCV002154523] | likely benign | 11 | 26553229 | 26553230 | Human | 2 | name |
| 156028560 | CV1893425 | single nucleotide variant | NM_031418.4(ANO3):c.912T>G (p.Thr304=) | Dystonic disorder [RCV003077989] | likely benign | 11 | 26534498 | 26534498 | Human | 2 | name |
| 156226640 | CV1896416 | deletion | NM_031418.4(ANO3):c.1290-13_1290-12del | Dystonic disorder [RCV003085201] | benign | 11 | 26553235 | 26553236 | Human | 2 | name |
| 156446695 | CV1948049 | single nucleotide variant | NM_031418.4(ANO3):c.609C>T (p.Pro203=) | Dystonic disorder [RCV003118208] | likely benign | 11 | 26516844 | 26516844 | Human | 2 | name |
| 156183993 | CV2102584 | single nucleotide variant | NM_031418.4(ANO3):c.822G>A (p.Glu274=) | Dystonic disorder [RCV002917237] | benign | 11 | 26531289 | 26531289 | Human | 2 | name |
| 156316388 | CV2104162 | single nucleotide variant | NM_031418.4(ANO3):c.47G>T (p.Gly16Val) | Dystonic disorder [RCV002937474] | uncertain significance | 11 | 26441918 | 26441918 | Human | 2 | name |
| 156004078 | CV2166571 | single nucleotide variant | NM_031418.4(ANO3):c.849C>T (p.Phe283=) | Dystonic disorder [RCV003017410] | likely benign | 11 | 26531316 | 26531316 | Human | 2 | name |
| 405174566 | CV2922337 | single nucleotide variant | NM_031418.4(ANO3):c.46G>T (p.Gly16Cys) | Dystonic disorder [RCV003587939] | uncertain significance | 11 | 26332321 | 26332321 | Human | 2 | name |
| 405247621 | CV3054963 | single nucleotide variant | NM_031418.4(ANO3):c.801G>A (p.Lys267=) | Dystonic disorder [RCV003746442] | likely benign | 11 | 26531268 | 26531268 | Human | 2 | name |
| 405250418 | CV3059169 | single nucleotide variant | NM_031418.4(ANO3):c.354C>T (p.His118=) | Dystonic disorder [RCV003747519] | likely benign | 11 | 26463070 | 26463070 | Human | 2 | name |
| 408390903 | CV3527756 | single nucleotide variant | NM_031418.4(ANO3):c.49A>G (p.Met17Val) | not provided [RCV004775025] | uncertain significance | 11 | 26441920 | 26441920 | Human | | name |
| 597649126 | CV3551774 | single nucleotide variant | NM_031418.4(ANO3):c.657G>A (p.Lys219=) | not provided [RCV004820487] | uncertain significance | 11 | 26516892 | 26516892 | Human | | name |
| 597833204 | CV3760409 | single nucleotide variant | NM_031418.4(ANO3):c.894C>T (p.Thr298=) | Dystonic disorder [RCV005085152] | likely benign | 11 | 26534480 | 26534480 | Human | 2 | name |
| 597974847 | CV3802286 | deletion | NM_031418.4(ANO3):c.1032+15_1032+16del | Dystonic disorder [RCV005144063] | likely benign | 11 | 26537475 | 26537476 | Human | 2 | name |
| 597895436 | CV3810397 | single nucleotide variant | NM_031418.4(ANO3):c.330G>A (p.Lys110=) | Dystonic disorder [RCV005151922] | likely benign | 11 | 26463046 | 26463046 | Human | 2 | name |
| 597880405 | CV3826380 | deletion | NM_031418.4(ANO3):c.1447+15_1447+18del | Dystonic disorder [RCV005178077] | likely benign | 11 | 26559792 | 26559795 | Human | 2 | name |
| 12886873 | CV398502 | single nucleotide variant | NM_031418.4(ANO3):c.714C>T (p.Asp238=) | ANO3-related disorder [RCV003902660]|Dystonia 24 [RCV002259953]|Dystonic disorder [RCV001512393]|not provided [RCV000468030] | benign|likely benign | 11 | 26525656 | 26525656 | Human | 3 | name , trait , alternate_id |
| 13487308 | CV461138 | single nucleotide variant | NM_031418.4(ANO3):c.534T>C (p.Asp178=) | Dystonic disorder [RCV000531742] | likely benign | 11 | 26508205 | 26508205 | Human | 2 | name |
| 13612416 | CV526220 | single nucleotide variant | NM_031418.4(ANO3):c.348A>G (p.Ser116=) | Dystonia 24 [RCV002260034]|Dystonic disorder [RCV001516967]|not provided [RCV000630721] | benign | 11 | 26463064 | 26463064 | Human | 3 | name , alternate_id |
| 126743240 | CV1020856 | duplication | NM_031418.4(ANO3):c.699dup (p.Cys234fs) | Dystonia 24 [RCV001336723] | pathogenic | 11 | 26525635 | 26525636 | Human | | name , alternate_id |
| 127253443 | CV1078147 | single nucleotide variant | NM_031418.4(ANO3):c.1017G>A (p.Ala339=) | Dystonic disorder [RCV001418274] | likely benign | 11 | 26537446 | 26537446 | Human | 2 | name |
| 127319942 | CV1121320 | single nucleotide variant | NM_031418.4(ANO3):c.1452A>T (p.Thr484=) | Dystonic disorder [RCV001466745] | likely benign | 11 | 26598369 | 26598369 | Human | 2 | name |
| 127337146 | CV1121321 | single nucleotide variant | NM_031418.4(ANO3):c.2124C>T (p.Phe708=) | Dystonic disorder [RCV001475430] | likely benign | 11 | 26639224 | 26639224 | Human | 2 | name |
| 127315377 | CV1142188 | single nucleotide variant | NM_031418.4(ANO3):c.1266T>C (p.Phe422=) | Dystonic disorder [RCV001502693] | likely benign | 11 | 26547527 | 26547527 | Human | 2 | name |
| 127299848 | CV1156684 | single nucleotide variant | NM_031418.4(ANO3):c.1158A>G (p.Leu386=) | Dystonia 24 [RCV002260157]|Dystonic disorder [RCV001513852]|not provided [RCV001673087] | benign | 11 | 26547419 | 26547419 | Human | 3 | name , alternate_id |
| 127314048 | CV1156685 | single nucleotide variant | NM_031418.4(ANO3):c.1380T>C (p.Tyr460=) | Dystonic disorder [RCV001519466] | benign | 11 | 26553339 | 26553339 | Human | 2 | name |
| 127299852 | CV1156687 | single nucleotide variant | NM_031418.4(ANO3):c.1692A>C (p.Ala564=) | Dystonia 24 [RCV002260158]|Dystonic disorder [RCV001513853]|not provided [RCV001647304] | benign | 11 | 26599570 | 26599570 | Human | 3 | name , alternate_id |
| 127300992 | CV1156688 | single nucleotide variant | NM_031418.4(ANO3):c.1989C>T (p.Phe663=) | Dystonia 24 [RCV002260159]|Dystonic disorder [RCV001514475]|not provided [RCV001692404] | benign | 11 | 26635016 | 26635016 | Human | 3 | name , alternate_id |
| 127317208 | CV1156689 | single nucleotide variant | NM_031418.4(ANO3):c.2439T>G (p.Leu813=) | Dystonic disorder [RCV001520946] | benign | 11 | 26647719 | 26647719 | Human | 2 | name |
| 127306978 | CV1156690 | single nucleotide variant | NM_031418.4(ANO3):c.2682C>T (p.Pro894=) | Dystonia 24 [RCV002260165]|Dystonic disorder [RCV001516884]|not provided [RCV001692409] | benign | 11 | 26656400 | 26656400 | Human | 3 | name , alternate_id |
| 150527924 | CV1300935 | single nucleotide variant | NM_031418.4(ANO3):c.100C>G (p.Arg34Gly) | Dystonic disorder [RCV002538842]|not provided [RCV001754795] | uncertain significance | 11 | 26441971 | 26441971 | Human | 2 | name |
| 151353135 | CV1326039 | single nucleotide variant | NM_031418.4(ANO3):c.128G>A (p.Ser43Asn) | Inborn genetic diseases [RCV002541509]|not provided [RCV001816099] | uncertain significance | 11 | 26441999 | 26441999 | Human | 1 | name |
| 151352786 | CV1326040 | single nucleotide variant | NM_031418.4(ANO3):c.2328T>C (p.Pro776=) | not provided [RCV001815720] | likely benign | 11 | 26643234 | 26643234 | Human | | name |
| 151870737 | CV1395695 | single nucleotide variant | NM_031418.4(ANO3):c.121G>A (p.Ala41Thr) | Dystonic disorder [RCV002035631]|Inborn genetic diseases [RCV003170509] | uncertain significance | 11 | 26441992 | 26441992 | Human | 3 | name |
| 151870487 | CV1453776 | single nucleotide variant | NM_031418.4(ANO3):c.2391A>G (p.Gln797=) | Dystonic disorder [RCV001939730] | likely benign|uncertain significance | 11 | 26643297 | 26643297 | Human | 2 | name |
| 152032907 | CV1542543 | single nucleotide variant | NM_031418.4(ANO3):c.1482G>A (p.Arg494=) | Dystonic disorder [RCV002106461] | likely benign | 11 | 26598399 | 26598399 | Human | 2 | name |
| 155719197 | CV1775564 | single nucleotide variant | NM_031418.4(ANO3):c.290C>T (p.Ala97Val) | Dystonic disorder [RCV002301214] | uncertain significance | 11 | 26443813 | 26443813 | Human | 2 | name |
| 156253511 | CV1867997 | single nucleotide variant | NM_031418.4(ANO3):c.181G>A (p.Glu61Lys) | Dystonic disorder [RCV003060109]|Inborn genetic diseases [RCV004960925] | uncertain significance | 11 | 26442052 | 26442052 | Human | 3 | name |
| 156055411 | CV1869931 | single nucleotide variant | NM_031418.4(ANO3):c.2373A>G (p.Ala791=) | Dystonic disorder [RCV003053145] | likely benign | 11 | 26643279 | 26643279 | Human | 2 | name |
| 156374797 | CV1871798 | single nucleotide variant | NM_031418.4(ANO3):c.1092A>C (p.Leu364=) | Dystonic disorder [RCV003066617] | likely benign | 11 | 26542006 | 26542006 | Human | 2 | name |
| 156359887 | CV1874061 | single nucleotide variant | NM_031418.4(ANO3):c.2448C>T (p.Leu816=) | Dystonic disorder [RCV003065535] | likely benign | 11 | 26647728 | 26647728 | Human | 2 | name |
| 156156815 | CV1875513 | single nucleotide variant | NM_031418.4(ANO3):c.124C>T (p.Gln42Ter) | Dystonic disorder [RCV003056743] | uncertain significance | 11 | 26441995 | 26441995 | Human | 2 | name |
| 156134019 | CV1905556 | single nucleotide variant | NM_031418.4(ANO3):c.2373A>C (p.Ala791=) | Dystonic disorder [RCV003081947] | likely benign | 11 | 26643279 | 26643279 | Human | 2 | name |
| 156274206 | CV1915526 | single nucleotide variant | NM_031418.4(ANO3):c.2526T>C (p.Val842=) | Dystonic disorder [RCV002628206] | likely benign | 11 | 26647806 | 26647806 | Human | 2 | name |
| 156284693 | CV1929663 | single nucleotide variant | NM_031418.4(ANO3):c.1092A>G (p.Leu364=) | Dystonic disorder [RCV002628563] | likely benign | 11 | 26542006 | 26542006 | Human | 2 | name |
| 156060271 | CV1930964 | single nucleotide variant | NM_031418.4(ANO3):c.1893A>T (p.Ser631=) | Dystonic disorder [RCV002638260] | likely benign | 11 | 26634223 | 26634223 | Human | 2 | name |
| 156392756 | CV1965067 | single nucleotide variant | NM_031418.4(ANO3):c.182A>C (p.Glu61Ala) | Dystonic disorder [RCV002584029] | likely benign | 11 | 26442053 | 26442053 | Human | 2 | name |
| 156006632 | CV1984559 | single nucleotide variant | NM_031418.4(ANO3):c.1104C>G (p.Arg368=) | Dystonic disorder [RCV002618699] | likely benign | 11 | 26542018 | 26542018 | Human | 2 | name |
| 155903946 | CV2007199 | single nucleotide variant | NM_031418.4(ANO3):c.2310G>A (p.Ala770=) | Dystonic disorder [RCV002681275] | uncertain significance | 11 | 26643216 | 26643216 | Human | 2 | name |
| 156135678 | CV2044341 | single nucleotide variant | NM_031418.4(ANO3):c.1026A>G (p.Pro342=) | Dystonic disorder [RCV002786338] | benign | 11 | 26537455 | 26537455 | Human | 2 | name |
| 155944211 | CV2062071 | single nucleotide variant | NM_031418.4(ANO3):c.1653C>G (p.Val551=) | Dystonic disorder [RCV002815883] | likely benign | 11 | 26598980 | 26598980 | Human | 2 | name |
| 156145875 | CV2090880 | single nucleotide variant | NM_031418.4(ANO3):c.293A>C (p.Asp98Ala) | Dystonic disorder [RCV002890482] | uncertain significance | 11 | 26443816 | 26443816 | Human | 2 | name |
| 155981533 | CV2098051 | single nucleotide variant | NM_031418.4(ANO3):c.263A>G (p.Asn88Ser) | Dystonic disorder [RCV002907730] | uncertain significance | 11 | 26443786 | 26443786 | Human | 2 | name |
| 156023826 | CV2105948 | single nucleotide variant | NM_031418.4(ANO3):c.248C>A (p.Thr83Asn) | Dystonic disorder [RCV002923196] | uncertain significance | 11 | 26443771 | 26443771 | Human | 2 | name |
| 156025988 | CV2139181 | single nucleotide variant | NM_031418.4(ANO3):c.1767A>G (p.Gln589=) | Dystonic disorder [RCV002998922] | likely benign | 11 | 26599645 | 26599645 | Human | 2 | name |
| 156178407 | CV2144922 | single nucleotide variant | NM_031418.4(ANO3):c.1680G>A (p.Leu560=) | Dystonic disorder [RCV003005628] | likely benign | 11 | 26599558 | 26599558 | Human | 2 | name |
| 156129025 | CV2155616 | single nucleotide variant | NM_031418.4(ANO3):c.2496T>C (p.Ala832=) | Dystonic disorder [RCV003003282] | likely benign | 11 | 26647776 | 26647776 | Human | 2 | name |
| 156339881 | CV2179706 | single nucleotide variant | NM_031418.4(ANO3):c.1227A>C (p.Ala409=) | Dystonic disorder [RCV003030225] | likely benign | 11 | 26547488 | 26547488 | Human | 2 | name |
| 11346646 | CV241088 | single nucleotide variant | NM_031418.4(ANO3):c.1968C>T (p.Ile656=) | Dystonia 24 [RCV000615184]|Dystonic disorder [RCV000229247]|not provided [RCV001589198] | benign|likely benign | 11 | 26634298 | 26634298 | Human | 3 | name , alternate_id |
| 11350169 | CV241089 | single nucleotide variant | NM_031418.4(ANO3):c.2535C>T (p.Tyr845=) | Dystonic disorder [RCV000233521] | benign | 11 | 26647815 | 26647815 | Human | 2 | name |
| 243063403 | CV2411720 | deletion | NM_031418.4(ANO3):c.972del (p.Val325fs) | Dystonia 24 [RCV003141443] | uncertain significance | 11 | 26534555 | 26534555 | Human | 1 | name , alternate_id |
| 243063404 | CV2411721 | single nucleotide variant | NM_031418.4(ANO3):c.160A>G (p.Thr54Ala) | Dystonia 24 [RCV003141444] | uncertain significance | 11 | 26442031 | 26442031 | Human | 1 | name , alternate_id |
| 401904242 | CV2816536 | single nucleotide variant | NM_031418.4(ANO3):c.161C>T (p.Thr54Ile) | not provided [RCV003394790] | uncertain significance | 11 | 26442032 | 26442032 | Human | | name |
| 405164041 | CV2869837 | single nucleotide variant | NM_031418.4(ANO3):c.2658G>A (p.Arg886=) | Dystonic disorder [RCV003586978] | uncertain significance | 11 | 26656376 | 26656376 | Human | 2 | name |
| 405162855 | CV2872146 | single nucleotide variant | NM_031418.4(ANO3):c.2703G>A (p.Glu901=) | Dystonic disorder [RCV003586881] | likely benign | 11 | 26656421 | 26656421 | Human | 2 | name |
| 405161590 | CV2878179 | single nucleotide variant | NM_031418.4(ANO3):c.121G>T (p.Ala41Ser) | Dystonic disorder [RCV003586781]|Inborn genetic diseases [RCV004636759] | uncertain significance | 11 | 26441992 | 26441992 | Human | 3 | name |
| 405167415 | CV2889740 | single nucleotide variant | NM_031418.4(ANO3):c.186T>G (p.Ser62Arg) | Dystonic disorder [RCV003587278] | uncertain significance | 11 | 26442057 | 26442057 | Human | 2 | name |
| 405164769 | CV2891225 | single nucleotide variant | NM_031418.4(ANO3):c.255G>T (p.Glu85Asp) | Dystonic disorder [RCV003587041] | uncertain significance | 11 | 26443778 | 26443778 | Human | 2 | name |
| 405166213 | CV2892552 | single nucleotide variant | NM_031418.4(ANO3):c.212C>G (p.Thr71Ser) | Dystonic disorder [RCV003587175] | uncertain significance | 11 | 26442083 | 26442083 | Human | 2 | name |
| 405168259 | CV2894292 | single nucleotide variant | NM_031418.4(ANO3):c.265G>A (p.Asp89Asn) | Dystonic disorder [RCV003587351] | uncertain significance | 11 | 26443788 | 26443788 | Human | 2 | name |
| 405249951 | CV2994021 | single nucleotide variant | NM_031418.4(ANO3):c.1257T>C (p.Tyr419=) | Dystonic disorder [RCV003747344] | likely benign | 11 | 26547518 | 26547518 | Human | 2 | name |
| 405249670 | CV2994277 | single nucleotide variant | NM_031418.4(ANO3):c.2895G>A (p.Leu965=) | Dystonic disorder [RCV003747225] | likely benign | 11 | 26660393 | 26660393 | Human | 2 | name |
| 405249845 | CV3002935 | single nucleotide variant | NM_031418.4(ANO3):c.223A>G (p.Thr75Ala) | Dystonic disorder [RCV003747298] | uncertain significance | 11 | 26442094 | 26442094 | Human | 2 | name |
| 405246814 | CV3028340 | single nucleotide variant | NM_031418.4(ANO3):c.1407T>C (p.Asn469=) | Dystonic disorder [RCV003746129] | likely benign | 11 | 26559739 | 26559739 | Human | 2 | name |
| 405247201 | CV3037936 | single nucleotide variant | NM_031418.4(ANO3):c.1866C>T (p.Thr622=) | Dystonic disorder [RCV003746279] | likely benign | 11 | 26624491 | 26624491 | Human | 2 | name |
| 405247520 | CV3043758 | single nucleotide variant | NM_031418.4(ANO3):c.121G>C (p.Ala41Pro) | Dystonic disorder [RCV003746402] | uncertain significance | 11 | 26441992 | 26441992 | Human | 2 | name |
| 405186215 | CV3149045 | single nucleotide variant | NM_031418.4(ANO3):c.2709T>C (p.Thr903=) | Dystonic disorder [RCV003842969] | likely benign | 11 | 26656427 | 26656427 | Human | 2 | name |
| 405127643 | CV3163166 | single nucleotide variant | NM_031418.4(ANO3):c.1539T>G (p.Leu513=) | ANO3-related disorder [RCV003956612]|Dystonic disorder [RCV003854347] | likely benign | 11 | 26598866 | 26598866 | Human | 3 | name , trait , alternate_id |
| 405237046 | CV3166601 | single nucleotide variant | NM_031418.4(ANO3):c.1506C>T (p.Asp502=) | Dystonic disorder [RCV003854051] | likely benign | 11 | 26598423 | 26598423 | Human | 2 | name |
| 402473782 | CV3172268 | single nucleotide variant | NM_031418.4(ANO3):c.2220T>C (p.Asp740=) | Dystonic disorder [RCV003874871] | likely benign | 11 | 26641974 | 26641974 | Human | 2 | name |
| 402466040 | CV3177334 | single nucleotide variant | NM_031418.4(ANO3):c.155A>G (p.Gln52Arg) | Dystonic disorder [RCV003872965] | uncertain significance | 11 | 26442026 | 26442026 | Human | 2 | name |
| 405227778 | CV3180257 | single nucleotide variant | NM_031418.4(ANO3):c.2283A>G (p.Gln761=) | Dystonic disorder [RCV003864677] | likely benign | 11 | 26643189 | 26643189 | Human | 2 | name |
| 596926063 | CV3530683 | single nucleotide variant | NM_031418.4(ANO3):c.166C>T (p.Leu56Phe) | not provided [RCV004778268] | uncertain significance | 11 | 26442037 | 26442037 | Human | | name |
| 596920801 | CV3534197 | single nucleotide variant | NM_031418.4(ANO3):c.2139C>T (p.Tyr713=) | not specified [RCV004783416] | uncertain significance | 11 | 26639239 | 26639239 | Human | | name |
| 596929081 | CV3540780 | single nucleotide variant | NM_031418.4(ANO3):c.101G>A (p.Arg34Gln) | not provided [RCV004795108] | uncertain significance | 11 | 26441972 | 26441972 | Human | | name |
| 597710318 | CV3555037 | single nucleotide variant | NM_031418.4(ANO3):c.160A>T (p.Thr54Ser) | Inborn genetic diseases [RCV004958975] | uncertain significance | 11 | 26442031 | 26442031 | Human | 1 | name |
| 597860826 | CV3748715 | single nucleotide variant | NM_031418.4(ANO3):c.1455C>G (p.Val485=) | Dystonic disorder [RCV005067347] | likely benign | 11 | 26598372 | 26598372 | Human | 2 | name |
| 597836584 | CV3757711 | single nucleotide variant | NM_031418.4(ANO3):c.101G>C (p.Arg34Pro) | Dystonic disorder [RCV005085725] | uncertain significance | 11 | 26441972 | 26441972 | Human | 2 | name |
| 597877726 | CV3776161 | single nucleotide variant | NM_031418.4(ANO3):c.2292T>C (p.Phe764=) | Dystonic disorder [RCV005123689] | likely benign | 11 | 26643198 | 26643198 | Human | 2 | name |
| 597921045 | CV3781346 | single nucleotide variant | NM_031418.4(ANO3):c.1905C>T (p.Asn635=) | Dystonic disorder [RCV005130228] | likely benign | 11 | 26634235 | 26634235 | Human | 2 | name |
| 597953886 | CV3795649 | single nucleotide variant | NM_031418.4(ANO3):c.1497T>C (p.Tyr499=) | Dystonic disorder [RCV005136659] | likely benign | 11 | 26598414 | 26598414 | Human | 2 | name |
| 597973448 | CV3820485 | single nucleotide variant | NM_031418.4(ANO3):c.1191T>C (p.Ala397=) | Dystonic disorder [RCV005168002] | likely benign | 11 | 26547452 | 26547452 | Human | 2 | name |
| 597967026 | CV3855701 | single nucleotide variant | NM_031418.4(ANO3):c.1152C>T (p.Ile384=) | Dystonic disorder [RCV005194681] | uncertain significance | 11 | 26542066 | 26542066 | Human | 2 | name |
| 598244245 | CV3895499 | single nucleotide variant | NM_031418.4(ANO3):c.269C>G (p.Ser90Cys) | Dystonia 24 [RCV005365647] | uncertain significance | 11 | 26443792 | 26443792 | Human | 1 | name , alternate_id |
| 12889175 | CV398128 | single nucleotide variant | NM_031418.4(ANO3):c.2811C>T (p.Asp937=) | Dystonia 24 [RCV002259951]|Dystonic disorder [RCV000472308]|not provided [RCV001565450] | benign|likely benign | 11 | 26660309 | 26660309 | Human | 3 | name , alternate_id |
| 12882695 | CV398489 | single nucleotide variant | NM_031418.4(ANO3):c.164C>T (p.Ser55Phe) | Dystonia 24 [RCV002259955]|Dystonic disorder [RCV000460145]|Inborn genetic diseases [RCV004022917]|not provided [RCV001653834]|not specified [RCV001529928] | benign|likely benign|uncertain significance | 11 | 26442035 | 26442035 | Human | 4 | name , alternate_id |
| 12891835 | CV398599 | single nucleotide variant | NM_031418.4(ANO3):c.2817A>G (p.Pro939=) | ANO3-related disorder [RCV003942505]|Dystonia 24 [RCV002259954]|Dystonic disorder [RCV000477318]|not provided [RCV001692131] | benign|likely benign | 11 | 26660315 | 26660315 | Human | 3 | name , trait , alternate_id |
| 598213919 | CV3993749 | single nucleotide variant | NM_031418.4(ANO3):c.202A>G (p.Thr68Ala) | Inborn genetic diseases [RCV005378448] | uncertain significance | 11 | 26442073 | 26442073 | Human | 1 | name |
| 13446160 | CV437886 | single nucleotide variant | NM_031418.4(ANO3):c.295C>A (p.Leu99Ile) | Dystonic disorder [RCV001045840]|not provided [RCV000513349] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 26443818 | 26443818 | Human | 2 | name |
| 13445690 | CV437887 | single nucleotide variant | NM_031418.4(ANO3):c.1968C>A (p.Ile656=) | Dystonic disorder [RCV005091164]|not provided [RCV000512738] | likely benign|uncertain significance | 11 | 26634298 | 26634298 | Human | 2 | name |
| 13485636 | CV461798 | single nucleotide variant | NM_031418.4(ANO3):c.257A>G (p.Asn86Ser) | Dystonic disorder [RCV000553312] | uncertain significance | 11 | 26443780 | 26443780 | Human | 2 | name |
| 13480677 | CV461802 | single nucleotide variant | NM_031418.4(ANO3):c.1911C>T (p.Phe637=) | ANO3-related disorder [RCV003925577]|Dystonia 24 [RCV002259987]|Dystonic disorder [RCV002060292]|not provided [RCV000528630] | benign | 11 | 26634241 | 26634241 | Human | 3 | name , trait , alternate_id |
| 13518528 | CV486054 | single nucleotide variant | NM_031418.4(ANO3):c.2373A>T (p.Ala791=) | Dystonic disorder [RCV003586196]|not provided [RCV000584882] | likely benign|uncertain significance | 11 | 26643279 | 26643279 | Human | 2 | name |
| 13706012 | CV537151 | single nucleotide variant | NM_031418.4(ANO3):c.2343A>G (p.Leu781=) | not provided [RCV000658589] | uncertain significance | 11 | 26643249 | 26643249 | Human | | name |
| 13810745 | CV570498 | single nucleotide variant | NM_031418.4(ANO3):c.122C>T (p.Ala41Val) | Dystonic disorder [RCV000702742] | uncertain significance | 11 | 26441993 | 26441993 | Human | 2 | name |
| 14731555 | CV639911 | single nucleotide variant | NM_031418.4(ANO3):c.281G>A (p.Cys94Tyr) | Dystonic disorder [RCV000817878]|Inborn genetic diseases [RCV002537427] | likely benign|uncertain significance | 11 | 26443804 | 26443804 | Human | 3 | name |
| 15123373 | CV684250 | single nucleotide variant | NM_031418.4(ANO3):c.1401C>T (p.Phe467=) | Dystonic disorder [RCV001510593] | benign | 11 | 26559733 | 26559733 | Human | 2 | name |
| 15122444 | CV684251 | single nucleotide variant | NM_031418.4(ANO3):c.1915C>T (p.Leu639=) | ANO3-related disorder [RCV003908172]|Dystonia 24 [RCV002260071]|Dystonic disorder [RCV001419684]|not provided [RCV000862058] | benign|likely benign | 11 | 26634245 | 26634245 | Human | 3 | name , trait , alternate_id |
| 15131739 | CV684252 | single nucleotide variant | NM_031418.4(ANO3):c.2604C>T (p.Ser868=) | Dystonic disorder [RCV002538930] | likely benign | 11 | 26656152 | 26656152 | Human | 2 | name |
| 15099268 | CV687754 | single nucleotide variant | NM_031418.4(ANO3):c.1245C>T (p.Cys415=) | Dystonic disorder [RCV002539057] | likely benign | 11 | 26547506 | 26547506 | Human | 2 | name |
| 15160962 | CV687755 | single nucleotide variant | NM_031418.4(ANO3):c.1494C>A (p.Thr498=) | not provided [RCV000869120] | likely benign | 11 | 26598411 | 26598411 | Human | | name |
| 15137100 | CV687756 | single nucleotide variant | NM_031418.4(ANO3):c.2013T>C (p.Asn671=) | Dystonic disorder [RCV002536262] | likely benign | 11 | 26635040 | 26635040 | Human | 2 | name |
| 15140195 | CV692989 | single nucleotide variant | NM_031418.4(ANO3):c.2412C>G (p.Ala804=) | not provided [RCV000877450] | likely benign | 11 | 26643318 | 26643318 | Human | | name |
| 15136267 | CV752628 | single nucleotide variant | NM_031418.4(ANO3):c.2340G>A (p.Leu780=) | Dystonic disorder [RCV001488012] | likely benign | 11 | 26643246 | 26643246 | Human | 2 | name |
| 15109015 | CV768402 | single nucleotide variant | NM_031418.4(ANO3):c.1035A>G (p.Gly345=) | Dystonic disorder [RCV002544540] | likely benign | 11 | 26541949 | 26541949 | Human | 2 | name |
| 15116511 | CV768403 | single nucleotide variant | NM_031418.4(ANO3):c.2766C>T (p.His922=) | Dystonic disorder [RCV001397583] | likely benign | 11 | 26660264 | 26660264 | Human | 2 | name |
| 15134291 | CV783975 | single nucleotide variant | NM_031418.4(ANO3):c.1593G>A (p.Thr531=) | Dystonic disorder [RCV000981711] | likely benign | 11 | 26598920 | 26598920 | Human | 2 | name |
| 21073934 | CV796561 | single nucleotide variant | NM_031418.4(ANO3):c.2346C>T (p.Asn782=) | not provided [RCV000994590] | uncertain significance | 11 | 26643252 | 26643252 | Human | | name |
| 126766839 | CV1030176 | single nucleotide variant | NM_031418.4(ANO3):c.830A>G (p.Asp277Gly) | Dystonic disorder [RCV001342582] | uncertain significance | 11 | 26531297 | 26531297 | Human | 2 | name |
| 126914988 | CV1047164 | single nucleotide variant | NM_031418.4(ANO3):c.313G>A (p.Ala105Thr) | Dystonic disorder [RCV001370658] | uncertain significance | 11 | 26443836 | 26443836 | Human | 2 | name |
| 150335725 | CV1172244 | duplication | NM_031418.4(ANO3):c.1874-107_1874-106dup | not provided [RCV001540682] | benign | 11 | 26634080 | 26634081 | Human | | name |
| 150431462 | CV1206358 | deletion | NM_031418.4(ANO3):c.2275+313_2275+322del | not provided [RCV001581007] | likely benign | 11 | 26642339 | 26642348 | Human | | name |
| 150499859 | CV1224671 | deletion | NM_031418.4(ANO3):c.1033-305_1033-304del | not provided [RCV001620503] | benign | 11 | 26541642 | 26541643 | Human | | name |
| 150477993 | CV1240119 | duplication | NM_031418.4(ANO3):c.1874-108_1874-106dup | not provided [RCV001652297] | benign | 11 | 26634080 | 26634081 | Human | | name |
| 150469248 | CV1243126 | duplication | NM_031418.4(ANO3):c.1874-109_1874-106dup | not provided [RCV001650645] | benign | 11 | 26634080 | 26634081 | Human | | name |
| 150431322 | CV1243657 | insertion | NM_031418.4(ANO3):c.1447+73_1447+74insTA | not provided [RCV001663277] | benign | 11 | 26559851 | 26559852 | Human | | name |
| 150475131 | CV1278997 | deletion | NM_031418.4(ANO3):c.1289+143_1289+144del | not provided [RCV001713797] | benign | 11 | 26547692 | 26547693 | Human | | name |
| 150554216 | CV1296617 | single nucleotide variant | NM_031418.4(ANO3):c.709A>G (p.Thr237Ala) | not provided [RCV001770854] | uncertain significance | 11 | 26525651 | 26525651 | Human | | name |
| 150552413 | CV1301384 | single nucleotide variant | NM_031418.4(ANO3):c.610G>A (p.Asp204Asn) | not provided [RCV001767794] | uncertain significance | 11 | 26516845 | 26516845 | Human | | name |
| 151351751 | CV1321961 | single nucleotide variant | NM_031418.4(ANO3):c.992T>A (p.Ile331Lys) | not provided [RCV001806631] | uncertain significance | 11 | 26537421 | 26537421 | Human | | name |
| 151730190 | CV1412966 | single nucleotide variant | NM_031418.4(ANO3):c.338C>T (p.Thr113Met) | Dystonic disorder [RCV002004689] | uncertain significance | 11 | 26463054 | 26463054 | Human | 2 | name |
| 151731739 | CV1419306 | single nucleotide variant | NM_031418.4(ANO3):c.853C>T (p.Arg285Cys) | Dystonic disorder [RCV001946116] | uncertain significance | 11 | 26531320 | 26531320 | Human | 2 | name |
| 151734780 | CV1470885 | single nucleotide variant | NM_031418.4(ANO3):c.358A>G (p.Thr120Ala) | Dystonic disorder [RCV001967485] | uncertain significance | 11 | 26463074 | 26463074 | Human | 2 | name |
| 151739181 | CV1490361 | single nucleotide variant | NM_031418.4(ANO3):c.370T>C (p.Ser124Pro) | Dystonic disorder [RCV001985070] | uncertain significance | 11 | 26463086 | 26463086 | Human | 2 | name |
| 151855726 | CV1506844 | single nucleotide variant | NM_031418.4(ANO3):c.767A>C (p.Asn256Thr) | Dystonic disorder [RCV001937923] | uncertain significance | 11 | 26531234 | 26531234 | Human | 2 | name |
| 153301215 | CV1689063 | single nucleotide variant | NM_031418.4(ANO3):c.702C>A (p.Cys234Ter) | Dystonia 24 [RCV002266791] | uncertain significance | 11 | 26525644 | 26525644 | Human | 1 | name , alternate_id |
| 155934148 | CV1916194 | single nucleotide variant | NM_031418.4(ANO3):c.421A>G (p.Lys141Glu) | Dystonic disorder [RCV002615181] | uncertain significance | 11 | 26463137 | 26463137 | Human | 2 | name |
| 155968747 | CV2066200 | single nucleotide variant | NM_031418.4(ANO3):c.464C>T (p.Pro155Leu) | Dystonic disorder [RCV002841977] | uncertain significance | 11 | 26508135 | 26508135 | Human | 2 | name |
| 155918518 | CV2102237 | single nucleotide variant | NM_031418.4(ANO3):c.746C>G (p.Thr249Ser) | Dystonic disorder [RCV002903226]|Inborn genetic diseases [RCV003167896] | uncertain significance | 11 | 26531213 | 26531213 | Human | 3 | name |
| 156360156 | CV2162446 | deletion | NM_031418.4(ANO3):c.2697del (p.Tyr900fs) | Dystonic disorder [RCV003031508] | uncertain significance | 11 | 26656413 | 26656413 | Human | 2 | name |
| 156366317 | CV2163509 | single nucleotide variant | NM_031418.4(ANO3):c.493G>T (p.Asp165Tyr) | Dystonic disorder [RCV003031905] | uncertain significance | 11 | 26508164 | 26508164 | Human | 2 | name |
| 155944723 | CV2237852 | single nucleotide variant | NM_031418.4(ANO3):c.983G>A (p.Arg328His) | Inborn genetic diseases [RCV002752366] | uncertain significance | 11 | 26537412 | 26537412 | Human | 1 | name |
| 156212659 | CV2259977 | single nucleotide variant | NM_031418.4(ANO3):c.368G>A (p.Arg123Gln) | Inborn genetic diseases [RCV002804180] | uncertain significance | 11 | 26463084 | 26463084 | Human | 1 | name |
| 11059983 | CV226926 | single nucleotide variant | NM_031418.4(ANO3):c.922A>C (p.Ile308Leu) | Inborn genetic diseases [RCV000210588] | likely pathogenic | 11 | 26534508 | 26534508 | Human | 1 | name |
| 155902039 | CV2274616 | single nucleotide variant | NM_031418.4(ANO3):c.979A>G (p.Ile327Val) | Inborn genetic diseases [RCV002836645] | uncertain significance | 11 | 26537408 | 26537408 | Human | 1 | name |
| 156215040 | CV2385962 | single nucleotide variant | NM_031418.4(ANO3):c.674A>C (p.Asn225Thr) | Inborn genetic diseases [RCV002744340] | uncertain significance | 11 | 26516909 | 26516909 | Human | 1 | name |
| 243063405 | CV2411722 | single nucleotide variant | NM_031418.4(ANO3):c.827C>G (p.Ser276Ter) | Dystonia 24 [RCV003141445]|not provided [RCV005242373] | uncertain significance | 11 | 26531294 | 26531294 | Human | 1 | name , alternate_id |
| 11542214 | CV248476 | single nucleotide variant | NM_031418.4(ANO3):c.702C>G (p.Cys234Trp) | not provided [RCV000240474] | uncertain significance | 11 | 26525644 | 26525644 | Human | | name |
| 401749295 | CV2693052 | single nucleotide variant | NM_031418.4(ANO3):c.734G>T (p.Gly245Val) | Inborn genetic diseases [RCV003276426] | uncertain significance | 11 | 26525676 | 26525676 | Human | 1 | name |
| 401772263 | CV2719587 | single nucleotide variant | NM_031418.4(ANO3):c.391G>T (p.Val131Phe) | Inborn genetic diseases [RCV003304617] | uncertain significance | 11 | 26463107 | 26463107 | Human | 1 | name |
| 401798357 | CV2739330 | single nucleotide variant | NM_031418.4(ANO3):c.340G>C (p.Asp114His) | not provided [RCV003318978] | uncertain significance | 11 | 26463056 | 26463056 | Human | | name |
| 401857198 | CV2752131 | single nucleotide variant | NM_031418.4(ANO3):c.944G>A (p.Arg315His) | Dystonia 24 [RCV003336008] | uncertain significance | 11 | 26534530 | 26534530 | Human | 1 | name , alternate_id |
| 401905097 | CV2800378 | single nucleotide variant | NM_031418.4(ANO3):c.374G>A (p.Arg125His) | ANO3-related disorder [RCV003420695]|Inborn genetic diseases [RCV004362773] | uncertain significance | 11 | 26463090 | 26463090 | Human | 2 | name , trait , alternate_id |
| 401916721 | CV2829456 | single nucleotide variant | NM_031418.4(ANO3):c.428C>T (p.Ser143Phe) | not provided [RCV003443500] | uncertain significance | 11 | 26463144 | 26463144 | Human | | name |
| 405162513 | CV2868490 | single nucleotide variant | NM_031418.4(ANO3):c.647C>T (p.Thr216Met) | Dystonic disorder [RCV003586854] | uncertain significance | 11 | 26516882 | 26516882 | Human | 2 | name |
| 405164031 | CV2869778 | single nucleotide variant | NM_031418.4(ANO3):c.365A>C (p.Asp122Ala) | Dystonic disorder [RCV003586977] | uncertain significance | 11 | 26463081 | 26463081 | Human | 2 | name |
| 405167810 | CV2893641 | single nucleotide variant | NM_031418.4(ANO3):c.825G>C (p.Glu275Asp) | Dystonic disorder [RCV003587311] | uncertain significance | 11 | 26531292 | 26531292 | Human | 2 | name |
| 405249113 | CV2969017 | single nucleotide variant | NM_031418.4(ANO3):c.818T>A (p.Leu273Gln) | Dystonic disorder [RCV003746993] | uncertain significance | 11 | 26531285 | 26531285 | Human | 2 | name |
| 405247433 | CV3053184 | single nucleotide variant | NM_031418.4(ANO3):c.398A>G (p.Lys133Arg) | Dystonic disorder [RCV003746368]|Inborn genetic diseases [RCV004953424] | likely benign|uncertain significance | 11 | 26463114 | 26463114 | Human | 3 | name |
| 405116146 | CV3115832 | single nucleotide variant | NM_031418.4(ANO3):c.722G>T (p.Ser241Ile) | Dystonic disorder [RCV003814322] | uncertain significance | 11 | 26525664 | 26525664 | Human | 2 | name |
| 407488513 | CV3458392 | single nucleotide variant | NM_031418.4(ANO3):c.314C>A (p.Ala105Asp) | Inborn genetic diseases [RCV004641312] | uncertain significance | 11 | 26463030 | 26463030 | Human | 1 | name |
| 407460077 | CV3496913 | single nucleotide variant | NM_031418.4(ANO3):c.787A>G (p.Met263Val) | Dystonia 24 [RCV004698728] | likely benign | 11 | 26531254 | 26531254 | Human | 1 | name , alternate_id |
| 408369975 | CV3502936 | single nucleotide variant | NM_031418.4(ANO3):c.771G>C (p.Trp257Cys) | not provided [RCV004724057] | uncertain significance | 11 | 26531238 | 26531238 | Human | | name |
| 408371588 | CV3503841 | single nucleotide variant | NM_031418.4(ANO3):c.373C>G (p.Arg125Gly) | ANO3-related disorder [RCV004724680] | uncertain significance | 11 | 26463089 | 26463089 | Human | | name , trait , alternate_id |
| 408384219 | CV3520050 | single nucleotide variant | NM_031418.4(ANO3):c.785C>T (p.Pro262Leu) | not provided [RCV004759871] | uncertain significance | 11 | 26531252 | 26531252 | Human | | name |
| 597710269 | CV3555015 | single nucleotide variant | NM_031418.4(ANO3):c.527A>T (p.Gln176Leu) | Inborn genetic diseases [RCV004958966] | uncertain significance | 11 | 26508198 | 26508198 | Human | 1 | name |
| 12846660 | CV371374 | single nucleotide variant | NM_031418.4(ANO3):c.613A>G (p.Ile205Val) | Inborn genetic diseases [RCV002521816]|not provided [RCV000442061] | uncertain significance | 11 | 26516848 | 26516848 | Human | 1 | name |
| 597906870 | CV3738799 | single nucleotide variant | NM_031418.4(ANO3):c.719G>A (p.Arg240Lys) | Dystonic disorder [RCV005073034] | uncertain significance | 11 | 26525661 | 26525661 | Human | 2 | name |
| 12845207 | CV374065 | single nucleotide variant | NM_031418.4(ANO3):c.704A>G (p.Tyr235Cys) | Dystonia 24 [RCV005365291]|Dystonic disorder [RCV000692590]|not provided [RCV000994588] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 26525646 | 26525646 | Human | 3 | name , alternate_id |
| 597972177 | CV3829498 | single nucleotide variant | NM_031418.4(ANO3):c.732G>A (p.Met244Ile) | Dystonic disorder [RCV005167285] | uncertain significance | 11 | 26525674 | 26525674 | Human | 2 | name |
| 597869605 | CV3839267 | single nucleotide variant | NM_031418.4(ANO3):c.365A>G (p.Asp122Gly) | Dystonic disorder [RCV005176378] | uncertain significance | 11 | 26463081 | 26463081 | Human | 2 | name |
| 597886167 | CV3842297 | single nucleotide variant | NM_031418.4(ANO3):c.482A>G (p.Lys161Arg) | Dystonic disorder [RCV005178932] | uncertain significance | 11 | 26508153 | 26508153 | Human | 2 | name |
| 598244252 | CV3895501 | single nucleotide variant | NM_031418.4(ANO3):c.572G>A (p.Gly191Asp) | Dystonia 24 [RCV005365648] | uncertain significance | 11 | 26508243 | 26508243 | Human | 1 | name , alternate_id |
| 598179809 | CV3993755 | single nucleotide variant | NM_031418.4(ANO3):c.338C>G (p.Thr113Arg) | Inborn genetic diseases [RCV005372005] | uncertain significance | 11 | 26463054 | 26463054 | Human | 1 | name |
| 598179814 | CV3993757 | single nucleotide variant | NM_031418.4(ANO3):c.758G>A (p.Arg253Lys) | Inborn genetic diseases [RCV005372006] | uncertain significance | 11 | 26531225 | 26531225 | Human | 1 | name |
| 13705478 | CV536813 | single nucleotide variant | NM_031418.4(ANO3):c.914G>A (p.Arg305Gln) | Dystonic disorder [RCV002534266]|Inborn genetic diseases [RCV002534265]|not provided [RCV000658026] | uncertain significance | 11 | 26534500 | 26534500 | Human | 3 | name |
| 13801530 | CV565641 | single nucleotide variant | NM_031418.4(ANO3):c.743A>C (p.Gln248Pro) | Dystonia 24 [RCV000763728]|Dystonic disorder [RCV000697897] | uncertain significance | 11 | 26531210 | 26531210 | Human | 3 | name , alternate_id |
| 14715347 | CV639912 | single nucleotide variant | NM_031418.4(ANO3):c.407C>A (p.Ser136Tyr) | Dystonic disorder [RCV000794737]|Inborn genetic diseases [RCV002536984]|not provided [RCV004705781] | likely benign|uncertain significance | 11 | 26463123 | 26463123 | Human | 3 | name |
| 14738293 | CV639913 | single nucleotide variant | NM_031418.4(ANO3):c.523A>G (p.Ile175Val) | Dystonic disorder [RCV000820867] | likely benign|uncertain significance | 11 | 26508194 | 26508194 | Human | 2 | name |
| 14717808 | CV639914 | single nucleotide variant | NM_031418.4(ANO3):c.715G>A (p.Gly239Arg) | Dystonia 24 [RCV005359533]|Dystonic disorder [RCV000795592] | likely benign|uncertain significance | 11 | 26525657 | 26525657 | Human | 3 | name , alternate_id |
| 14730699 | CV639915 | single nucleotide variant | NM_031418.4(ANO3):c.859C>T (p.Arg287Trp) | Dystonic disorder [RCV000817516] | uncertain significance | 11 | 26531326 | 26531326 | Human | 2 | name |
| 26885212 | CV838244 | single nucleotide variant | NM_031418.4(ANO3):c.816C>G (p.Asp272Glu) | Dystonic disorder [RCV001065327] | uncertain significance | 11 | 26531283 | 26531283 | Human | 2 | name |
| 126755684 | CV994448 | single nucleotide variant | NM_031418.4(ANO3):c.632A>G (p.His211Arg) | Dystonic disorder [RCV001298408] | uncertain significance | 11 | 26516867 | 26516867 | Human | 2 | name |
| 126736520 | CV994449 | single nucleotide variant | NM_031418.4(ANO3):c.929A>G (p.Tyr310Cys) | Dystonic disorder [RCV001295232] | uncertain significance | 11 | 26534515 | 26534515 | Human | 2 | name |
| 126736638 | CV1000726 | single nucleotide variant | NM_031418.4(ANO3):c.1912G>A (p.Ala638Thr) | Dystonic disorder [RCV003770633]|not provided [RCV001311756] | uncertain significance | 11 | 26634242 | 26634242 | Human | 2 | name |
| 126725794 | CV1030177 | single nucleotide variant | NM_031418.4(ANO3):c.1505A>G (p.Asp502Gly) | Dystonic disorder [RCV001348260] | uncertain significance | 11 | 26598422 | 26598422 | Human | 2 | name |
| 126725764 | CV1030178 | single nucleotide variant | NM_031418.4(ANO3):c.1693G>T (p.Val565Leu) | Dystonic disorder [RCV001348250] | uncertain significance | 11 | 26599571 | 26599571 | Human | 2 | name |
| 126912220 | CV1038053 | single nucleotide variant | NM_031418.4(ANO3):c.1231A>G (p.Ile411Val) | ANO3-related disorder [RCV003898338]|Dystonia 24 [RCV001356278]|Dystonic disorder [RCV002070233] | benign|likely benign|uncertain significance | 11 | 26547492 | 26547492 | Human | 3 | name , trait , alternate_id |
| 150334352 | CV1164385 | single nucleotide variant | NM_031418.4(ANO3):c.2945A>G (p.Ter982Trp) | not provided [RCV001529562] | uncertain significance | 11 | 26660443 | 26660443 | Human | | name |
| 150434784 | CV1244037 | insertion | NM_031418.4(ANO3):c.1874-109_1874-108insT | not provided [RCV001665244] | benign | 11 | 26634095 | 26634096 | Human | | name |
| 150484798 | CV1250097 | insertion | NM_031418.4(ANO3):c.1874-110_1874-109insT | not provided [RCV001673710] | benign | 11 | 26634094 | 26634095 | Human | | name |
| 150546498 | CV1296243 | single nucleotide variant | NM_031418.4(ANO3):c.1540C>T (p.Arg514Cys) | Dystonic disorder [RCV002544054]|not provided [RCV001763533] | uncertain significance | 11 | 26598867 | 26598867 | Human | 2 | name |
| 150546954 | CV1302911 | single nucleotide variant | NM_031418.4(ANO3):c.2459G>A (p.Gly820Asp) | not provided [RCV001763656] | uncertain significance | 11 | 26647739 | 26647739 | Human | | name |
| 150553592 | CV1303602 | single nucleotide variant | NM_031418.4(ANO3):c.2891A>C (p.His964Pro) | not provided [RCV001769292] | uncertain significance | 11 | 26660389 | 26660389 | Human | | name |
| 151235841 | CV1319268 | single nucleotide variant | NM_031418.4(ANO3):c.2449G>A (p.Glu817Lys) | Dystonic disorder [RCV005095157]|not provided [RCV001797213] | uncertain significance | 11 | 26647729 | 26647729 | Human | 2 | name |
| 151760333 | CV1343211 | single nucleotide variant | NM_031418.4(ANO3):c.1437G>A (p.Met479Ile) | Dystonic disorder [RCV002024290] | uncertain significance | 11 | 26559769 | 26559769 | Human | 2 | name |
| 151853125 | CV1376225 | single nucleotide variant | NM_031418.4(ANO3):c.2503T>G (p.Ser835Ala) | Dystonic disorder [RCV001996213] | uncertain significance | 11 | 26647783 | 26647783 | Human | 2 | name |
| 151723458 | CV1414153 | single nucleotide variant | NM_031418.4(ANO3):c.2009A>G (p.Tyr670Cys) | Dystonic disorder [RCV002020492] | uncertain significance | 11 | 26635036 | 26635036 | Human | 2 | name |
| 151787719 | CV1416763 | single nucleotide variant | NM_031418.4(ANO3):c.2483C>T (p.Ala828Val) | Dystonic disorder [RCV001989760] | uncertain significance | 11 | 26647763 | 26647763 | Human | 2 | name |
| 151823157 | CV1448426 | single nucleotide variant | NM_031418.4(ANO3):c.2780T>G (p.Ile927Ser) | Dystonic disorder [RCV001934342]|Inborn genetic diseases [RCV002562164] | uncertain significance | 11 | 26660278 | 26660278 | Human | 3 | name |
| 151863756 | CV1498608 | single nucleotide variant | NM_031418.4(ANO3):c.2092A>G (p.Ile698Val) | Dystonic disorder [RCV001980464] | uncertain significance | 11 | 26639192 | 26639192 | Human | 2 | name |
| 152124928 | CV1580597 | single nucleotide variant | NM_031418.4(ANO3):c.1246G>A (p.Val416Ile) | Dystonic disorder [RCV002082078] | likely benign | 11 | 26547507 | 26547507 | Human | 2 | name |
| 152079746 | CV1666837 | single nucleotide variant | NM_031418.4(ANO3):c.1612C>T (p.Gln538Ter) | not provided [RCV002211182] | uncertain significance | 11 | 26598939 | 26598939 | Human | | name |
| 152057607 | CV1670612 | single nucleotide variant | NM_031418.4(ANO3):c.2906G>A (p.Arg969Gln) | not provided [RCV002226132] | likely benign | 11 | 26660404 | 26660404 | Human | | name |
| 153302436 | CV1688224 | single nucleotide variant | NM_031418.4(ANO3):c.1112G>A (p.Arg371His) | Inborn genetic diseases [RCV003382875]|not provided [RCV002265450] | likely benign|uncertain significance | 11 | 26542026 | 26542026 | Human | 1 | name |
| 153303649 | CV1690399 | single nucleotide variant | NM_031418.4(ANO3):c.1102C>G (p.Arg368Gly) | not provided [RCV002269442] | uncertain significance | 11 | 26542016 | 26542016 | Human | | name |
| 153303820 | CV1690494 | single nucleotide variant | NM_031418.4(ANO3):c.2810A>G (p.Asp937Gly) | not provided [RCV002269538] | uncertain significance | 11 | 26660308 | 26660308 | Human | | name |
| 153346959 | CV1691899 | duplication | NM_031418.4(ANO3):c.1007dup (p.Tyr336Ter) | not provided [RCV002273382] | uncertain significance | 11 | 26537435 | 26537436 | Human | | name |
| 153348997 | CV1693100 | single nucleotide variant | NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg) | Dystonia 24 [RCV003336516]|See cases [RCV002275380]|not provided [RCV002511148] | likely pathogenic|conflicting interpretations of pathogenicity | 11 | 26599577 | 26599577 | Human | 1 | name , alternate_id |
| 155643880 | CV1708190 | single nucleotide variant | NM_031418.4(ANO3):c.1714C>T (p.Arg572Cys) | Dystonia 24 [RCV002290179] | uncertain significance | 11 | 26599592 | 26599592 | Human | 1 | name , alternate_id |
| 155645001 | CV1710517 | single nucleotide variant | NM_031418.4(ANO3):c.1067A>G (p.His356Arg) | Inborn genetic diseases [RCV005375089]|not provided [RCV002293813] | uncertain significance | 11 | 26541981 | 26541981 | Human | 1 | name |
| 155709500 | CV1772884 | single nucleotide variant | NM_031418.4(ANO3):c.2051C>G (p.Pro684Arg) | Dystonic disorder [RCV002300510] | uncertain significance | 11 | 26639151 | 26639151 | Human | 2 | name |
| 155798290 | CV1861931 | single nucleotide variant | NM_031418.4(ANO3):c.2306T>C (p.Val769Ala) | Dystonia 24 [RCV002471334] | uncertain significance | 11 | 26643212 | 26643212 | Human | 1 | name , alternate_id |
| 156046829 | CV1867526 | single nucleotide variant | NM_031418.4(ANO3):c.1760T>C (p.Ile587Thr) | not provided [RCV002509998] | uncertain significance | 11 | 26599638 | 26599638 | Human | | name |
| 155948460 | CV1869160 | single nucleotide variant | NM_031418.4(ANO3):c.2274G>A (p.Met758Ile) | Dystonic disorder [RCV003074000] | uncertain significance | 11 | 26642028 | 26642028 | Human | 2 | name |
| 156116906 | CV1877374 | single nucleotide variant | NM_031418.4(ANO3):c.1541G>A (p.Arg514His) | Dystonic disorder [RCV003081274]|Inborn genetic diseases [RCV003250732] | uncertain significance | 11 | 26598868 | 26598868 | Human | 3 | name |
| 156412321 | CV1890499 | single nucleotide variant | NM_031418.4(ANO3):c.1952G>A (p.Ser651Asn) | Dystonic disorder [RCV003072844] | pathogenic | 11 | 26634282 | 26634282 | Human | 2 | name |
| 156416909 | CV1908738 | single nucleotide variant | NM_031418.4(ANO3):c.1997A>G (p.His666Arg) | Dystonic disorder [RCV002610422] | uncertain significance | 11 | 26635024 | 26635024 | Human | 2 | name |
| 156360908 | CV1925523 | single nucleotide variant | NM_031418.4(ANO3):c.1708G>A (p.Val570Met) | Dystonic disorder [RCV002651630] | uncertain significance | 11 | 26599586 | 26599586 | Human | 2 | name |
| 156055156 | CV1935096 | single nucleotide variant | NM_031418.4(ANO3):c.1339A>T (p.Lys447Ter) | not specified [RCV002510383] | uncertain significance | 11 | 26553298 | 26553298 | Human | | name |
| 156438638 | CV1947252 | single nucleotide variant | NM_031418.4(ANO3):c.2157G>A (p.Trp719Ter) | Dystonic disorder [RCV003108584] | uncertain significance | 11 | 26641911 | 26641911 | Human | 2 | name |
| 155967926 | CV1947850 | single nucleotide variant | NM_031418.4(ANO3):c.1102C>T (p.Arg368Cys) | Dystonic disorder [RCV003111724]|Inborn genetic diseases [RCV002945526] | uncertain significance | 11 | 26542016 | 26542016 | Human | 3 | name |
| 156388859 | CV1989923 | single nucleotide variant | NM_031418.4(ANO3):c.2159G>A (p.Trp720Ter) | Dystonic disorder [RCV002604492] | uncertain significance | 11 | 26641913 | 26641913 | Human | 2 | name |
| 156038099 | CV1998873 | single nucleotide variant | NM_031418.4(ANO3):c.1256A>G (p.Tyr419Cys) | Dystonic disorder [RCV002658928]|Inborn genetic diseases [RCV004066812] | uncertain significance | 11 | 26547517 | 26547517 | Human | 3 | name |
| 156010107 | CV2039061 | single nucleotide variant | NM_031418.4(ANO3):c.1655C>T (p.Ser552Leu) | Dystonic disorder [RCV002795053] | uncertain significance | 11 | 26598982 | 26598982 | Human | 2 | name |
| 156125036 | CV2040063 | single nucleotide variant | NM_031418.4(ANO3):c.1585C>A (p.Pro529Thr) | Dystonia 24 [RCV003138353]|Dystonic disorder [RCV002785944] | uncertain significance | 11 | 26598912 | 26598912 | Human | 3 | name , alternate_id |
| 156010612 | CV2051396 | single nucleotide variant | NM_031418.4(ANO3):c.2182G>T (p.Gly728Ter) | Dystonic disorder [RCV002820102] | uncertain significance | 11 | 26641936 | 26641936 | Human | 2 | name |
| 156196370 | CV2095362 | single nucleotide variant | NM_031418.4(ANO3):c.1484G>A (p.Ser495Asn) | Dystonic disorder [RCV002917631] | uncertain significance | 11 | 26598401 | 26598401 | Human | 2 | name |
| 155982061 | CV2098141 | single nucleotide variant | NM_031418.4(ANO3):c.2353A>T (p.Ile785Phe) | Dystonic disorder [RCV002907756] | uncertain significance | 11 | 26643259 | 26643259 | Human | 2 | name |
| 156214820 | CV2171168 | single nucleotide variant | NM_031418.4(ANO3):c.2840G>A (p.Arg947Gln) | Dystonic disorder [RCV003042477] | uncertain significance | 11 | 26660338 | 26660338 | Human | 2 | name |
| 156265278 | CV2189155 | single nucleotide variant | NM_031418.4(ANO3):c.2426T>G (p.Ile809Arg) | Dystonic disorder [RCV003044262] | uncertain significance | 11 | 26643332 | 26643332 | Human | 2 | name |
| 156159178 | CV2236192 | single nucleotide variant | NM_031418.4(ANO3):c.1460T>C (p.Leu487Pro) | Inborn genetic diseases [RCV002787376] | uncertain significance | 11 | 26598377 | 26598377 | Human | 1 | name |
| 155913429 | CV2245839 | single nucleotide variant | NM_031418.4(ANO3):c.1425T>G (p.Phe475Leu) | Inborn genetic diseases [RCV002771891] | uncertain significance | 11 | 26559757 | 26559757 | Human | 1 | name |
| 156001920 | CV2257905 | single nucleotide variant | NM_031418.4(ANO3):c.1761C>G (p.Ile587Met) | Inborn genetic diseases [RCV002794590] | uncertain significance | 11 | 26599639 | 26599639 | Human | 1 | name |
| 156368939 | CV2267119 | single nucleotide variant | NM_031418.4(ANO3):c.2609C>A (p.Ser870Tyr) | Inborn genetic diseases [RCV002813995] | uncertain significance | 11 | 26656157 | 26656157 | Human | 1 | name |
| 156074017 | CV2294708 | single nucleotide variant | NM_031418.4(ANO3):c.2187A>G (p.Ile729Met) | Inborn genetic diseases [RCV002887047] | uncertain significance | 11 | 26641941 | 26641941 | Human | 1 | name |
| 156185398 | CV2294944 | single nucleotide variant | NM_031418.4(ANO3):c.1813A>G (p.Ile605Val) | Inborn genetic diseases [RCV002892218] | likely benign | 11 | 26599691 | 26599691 | Human | 1 | name |
| 243051869 | CV2404177 | single nucleotide variant | NM_031418.4(ANO3):c.2118C>A (p.Asn706Lys) | not provided [RCV003129203] | uncertain significance | 11 | 26639218 | 26639218 | Human | | name |
| 243063406 | CV2411723 | single nucleotide variant | NM_031418.4(ANO3):c.2858T>C (p.Val953Ala) | Dystonia 24 [RCV003141446] | uncertain significance | 11 | 26660356 | 26660356 | Human | 1 | name , alternate_id |
| 243054364 | CV2418572 | single nucleotide variant | NM_031418.4(ANO3):c.2365C>G (p.Leu789Val) | not provided [RCV003154560] | uncertain significance | 11 | 26643271 | 26643271 | Human | | name |
| 329351345 | CV2476486 | single nucleotide variant | NM_031418.4(ANO3):c.2120A>G (p.Asn707Ser) | not provided [RCV003222718] | uncertain significance | 11 | 26639220 | 26639220 | Human | | name |
| 401795770 | CV2741042 | single nucleotide variant | NM_001313726.2(ANO3):c.46T>C (p.Phe16Leu) | not provided [RCV003322206] | uncertain significance | 11 | 26189222 | 26189222 | Human | | name |
| 401862532 | CV2768327 | single nucleotide variant | NM_031418.4(ANO3):c.2938T>C (p.Trp980Arg) | Inborn genetic diseases [RCV003343271] | uncertain significance | 11 | 26660436 | 26660436 | Human | 1 | name |
| 405160391 | CV2856313 | single nucleotide variant | NM_031418.4(ANO3):c.2095A>T (p.Met699Leu) | Dystonic disorder [RCV003586681] | uncertain significance | 11 | 26639195 | 26639195 | Human | 2 | name |
| 405163750 | CV2876638 | single nucleotide variant | NM_031418.4(ANO3):c.2474T>C (p.Ile825Thr) | Dystonic disorder [RCV003586953] | uncertain significance | 11 | 26647754 | 26647754 | Human | 2 | name |
| 405164408 | CV2879528 | single nucleotide variant | NM_031418.4(ANO3):c.1050C>G (p.Ser350Arg) | Dystonic disorder [RCV003586906]|Inborn genetic diseases [RCV004654248] | uncertain significance | 11 | 26541964 | 26541964 | Human | 3 | name |
| 405168431 | CV2892913 | single nucleotide variant | NM_031418.4(ANO3):c.2203C>A (p.Pro735Thr) | Dystonic disorder [RCV003587224] | uncertain significance | 11 | 26641957 | 26641957 | Human | 2 | name |
| 405172060 | CV2915779 | single nucleotide variant | NM_031418.4(ANO3):c.2311G>T (p.Ala771Ser) | Dystonic disorder [RCV003587694] | uncertain significance | 11 | 26643217 | 26643217 | Human | 2 | name |
| 405249637 | CV2980399 | single nucleotide variant | NM_031418.4(ANO3):c.1699G>C (p.Gly567Arg) | Dystonic disorder [RCV003747211] | pathogenic | 11 | 26599577 | 26599577 | Human | 2 | name |
| 405249477 | CV2985752 | single nucleotide variant | NM_031418.4(ANO3):c.1523A>T (p.Glu508Val) | Dystonic disorder [RCV003747143] | uncertain significance | 11 | 26598440 | 26598440 | Human | 2 | name |
| 405250203 | CV2993045 | single nucleotide variant | NM_031418.4(ANO3):c.1852G>A (p.Ala618Thr) | Dystonic disorder [RCV003747311] | uncertain significance | 11 | 26624477 | 26624477 | Human | 2 | name |
| 405250092 | CV3012367 | single nucleotide variant | NM_031418.4(ANO3):c.1957A>G (p.Ile653Val) | Dystonic disorder [RCV003747403] | uncertain significance | 11 | 26634287 | 26634287 | Human | 2 | name |
| 405246941 | CV3029322 | single nucleotide variant | NM_031418.4(ANO3):c.1883G>C (p.Arg628Pro) | Dystonic disorder [RCV003746172] | uncertain significance | 11 | 26634213 | 26634213 | Human | 2 | name |
| 405247325 | CV3039095 | single nucleotide variant | NM_031418.4(ANO3):c.1756T>G (p.Phe586Val) | Dystonic disorder [RCV003746327] | uncertain significance | 11 | 26599634 | 26599634 | Human | 2 | name |
| 405247328 | CV3039229 | single nucleotide variant | NM_031418.4(ANO3):c.2839C>T (p.Arg947Ter) | Dystonic disorder [RCV003746328] | uncertain significance | 11 | 26660337 | 26660337 | Human | 2 | name |
| 405247506 | CV3047001 | single nucleotide variant | NM_031418.4(ANO3):c.1010T>C (p.Ile337Thr) | Dystonic disorder [RCV003746396] | uncertain significance | 11 | 26537439 | 26537439 | Human | 2 | name |
| 405247487 | CV3053726 | single nucleotide variant | NM_031418.4(ANO3):c.1114T>C (p.Trp372Arg) | Dystonic disorder [RCV003746389] | uncertain significance | 11 | 26542028 | 26542028 | Human | 2 | name |
| 405250346 | CV3061159 | single nucleotide variant | NM_031418.4(ANO3):c.2413C>T (p.Arg805Ter) | Dystonic disorder [RCV003747487] | uncertain significance | 11 | 26643319 | 26643319 | Human | 2 | name |
| 405250279 | CV3067465 | single nucleotide variant | NM_031418.4(ANO3):c.1883G>A (p.Arg628Gln) | Dystonic disorder [RCV003747459] | uncertain significance | 11 | 26634213 | 26634213 | Human | 2 | name |
| 405250316 | CV3067769 | single nucleotide variant | NM_031418.4(ANO3):c.1675T>C (p.Ser559Pro) | Dystonic disorder [RCV003747474]|Inborn genetic diseases [RCV004654322] | uncertain significance | 11 | 26599553 | 26599553 | Human | 3 | name |
| 405267564 | CV3186860 | single nucleotide variant | NM_031418.4(ANO3):c.2566C>T (p.Pro856Ser) | not provided [RCV003886943] | likely benign | 11 | 26647846 | 26647846 | Human | | name |
| 405695409 | CV3282482 | single nucleotide variant | NM_031418.4(ANO3):c.1237G>T (p.Gly413Cys) | Inborn genetic diseases [RCV004424443] | uncertain significance | 11 | 26547498 | 26547498 | Human | 1 | name |
| 405695415 | CV3282483 | single nucleotide variant | NM_031418.4(ANO3):c.2708C>T (p.Thr903Ile) | Inborn genetic diseases [RCV004424444] | uncertain significance | 11 | 26656426 | 26656426 | Human | 1 | name |
| 405695421 | CV3282484 | single nucleotide variant | NM_031418.4(ANO3):c.2828A>G (p.His943Arg) | Inborn genetic diseases [RCV004424445] | uncertain significance | 11 | 26660326 | 26660326 | Human | 1 | name |
| 407427612 | CV3410761 | single nucleotide variant | NM_031418.4(ANO3):c.2090T>A (p.Val697Asp) | Dystonia 24 [RCV004586408] | uncertain significance | 11 | 26639190 | 26639190 | Human | 1 | name , alternate_id |
| 408366065 | CV3500089 | single nucleotide variant | NM_031418.4(ANO3):c.2939G>A (p.Trp980Ter) | not provided [RCV004722132] | uncertain significance | 11 | 26660437 | 26660437 | Human | | name |
| 408373696 | CV3502328 | single nucleotide variant | NM_031418.4(ANO3):c.2458G>T (p.Gly820Cys) | not provided [RCV004725915] | uncertain significance | 11 | 26647738 | 26647738 | Human | | name |
| 408390029 | CV3519165 | single nucleotide variant | NM_031418.4(ANO3):c.2326C>T (p.Pro776Ser) | not provided [RCV004762474] | uncertain significance | 11 | 26643232 | 26643232 | Human | | name |
| 408383831 | CV3520000 | single nucleotide variant | NM_031418.4(ANO3):c.1228G>C (p.Ala410Pro) | not provided [RCV004759821] | uncertain significance | 11 | 26547489 | 26547489 | Human | | name |
| 408380840 | CV3521575 | single nucleotide variant | NM_001313726.2(ANO3):c.58C>T (p.His20Tyr) | Dystonia 24 [RCV004764373]|not provided [RCV005242588] | pathogenic|benign|uncertain significance | 11 | 26189234 | 26189234 | Human | 1 | name , alternate_id |
| 408380762 | CV3523651 | single nucleotide variant | NM_031418.4(ANO3):c.2723A>G (p.His908Arg) | not provided [RCV004766049] | uncertain significance | 11 | 26656441 | 26656441 | Human | | name |
| 408382821 | CV3526766 | single nucleotide variant | NM_031418.4(ANO3):c.1399T>A (p.Phe467Ile) | not provided [RCV004772079] | uncertain significance | 11 | 26559731 | 26559731 | Human | | name |
| 596921768 | CV3535394 | single nucleotide variant | NM_031418.4(ANO3):c.2191G>A (p.Asp731Asn) | Dystonia 24 [RCV004784949] | uncertain significance | 11 | 26641945 | 26641945 | Human | 1 | name , alternate_id |
| 596922699 | CV3537355 | single nucleotide variant | NM_031418.4(ANO3):c.1434T>A (p.Phe478Leu) | not provided [RCV004787325] | uncertain significance | 11 | 26559766 | 26559766 | Human | | name |
| 596932568 | CV3539190 | single nucleotide variant | NM_031418.4(ANO3):c.1513G>A (p.Glu505Lys) | not provided [RCV004793316] | uncertain significance | 11 | 26598430 | 26598430 | Human | | name |
| 596945110 | CV3543721 | single nucleotide variant | NM_031418.4(ANO3):c.1765C>T (p.Gln589Ter) | not provided [RCV004801843] | uncertain significance | 11 | 26599643 | 26599643 | Human | | name |
| 597648348 | CV3551710 | single nucleotide variant | NM_031418.4(ANO3):c.1290C>G (p.Ser430Arg) | not provided [RCV004820423] | uncertain significance | 11 | 26553249 | 26553249 | Human | | name |
| 597710363 | CV3555044 | single nucleotide variant | NM_031418.4(ANO3):c.1040A>G (p.Tyr347Cys) | Inborn genetic diseases [RCV004958982] | uncertain significance | 11 | 26541954 | 26541954 | Human | 1 | name |
| 597710412 | CV3555052 | single nucleotide variant | NM_031418.4(ANO3):c.2180G>A (p.Arg727Gln) | Dystonic disorder [RCV005107566]|Inborn genetic diseases [RCV004958989] | uncertain significance | 11 | 26641934 | 26641934 | Human | 3 | name |
| 597710418 | CV3555062 | single nucleotide variant | NM_031418.4(ANO3):c.2650T>C (p.Tyr884His) | Inborn genetic diseases [RCV004958990] | uncertain significance | 11 | 26656198 | 26656198 | Human | 1 | name |
| 12834093 | CV371378 | single nucleotide variant | NM_031418.4(ANO3):c.1088A>G (p.His363Arg) | not provided [RCV000419761] | uncertain significance | 11 | 26542002 | 26542002 | Human | | name |
| 597906997 | CV3773126 | single nucleotide variant | NM_031418.4(ANO3):c.1310C>T (p.Thr437Ile) | Dystonic disorder [RCV005113191] | uncertain significance | 11 | 26553269 | 26553269 | Human | 2 | name |
| 597964275 | CV3792193 | single nucleotide variant | NM_031418.4(ANO3):c.2359A>G (p.Ile787Val) | Dystonic disorder [RCV005139751] | uncertain significance | 11 | 26643265 | 26643265 | Human | 2 | name |
| 597873158 | CV3805444 | single nucleotide variant | NM_031418.4(ANO3):c.1364A>G (p.Asn455Ser) | Dystonic disorder [RCV005148722] | uncertain significance | 11 | 26553323 | 26553323 | Human | 2 | name |
| 597919427 | CV3811647 | single nucleotide variant | NM_031418.4(ANO3):c.2738G>A (p.Arg913Lys) | Dystonic disorder [RCV005155478] | uncertain significance | 11 | 26656456 | 26656456 | Human | 2 | name |
| 597941993 | CV3837212 | single nucleotide variant | NM_031418.4(ANO3):c.2216A>G (p.Asn739Ser) | Dystonic disorder [RCV005188043] | uncertain significance | 11 | 26641970 | 26641970 | Human | 2 | name |
| 597936090 | CV3845367 | single nucleotide variant | NM_031418.4(ANO3):c.1570A>G (p.Met524Val) | Dystonic disorder [RCV005186680] | uncertain significance | 11 | 26598897 | 26598897 | Human | 2 | name |
| 597964642 | CV3848117 | single nucleotide variant | NM_031418.4(ANO3):c.2284T>C (p.Phe762Leu) | Dystonic disorder [RCV005193996] | uncertain significance | 11 | 26643190 | 26643190 | Human | 2 | name |
| 597893166 | CV3856731 | single nucleotide variant | NM_031418.4(ANO3):c.1384A>G (p.Lys462Glu) | Dystonic disorder [RCV005200799] | uncertain significance | 11 | 26553343 | 26553343 | Human | 2 | name |
| 597878753 | CV3860453 | single nucleotide variant | NM_031418.4(ANO3):c.2890C>T (p.His964Tyr) | Dystonic disorder [RCV005198662] | uncertain significance | 11 | 26660388 | 26660388 | Human | 2 | name |
| 598127465 | CV3888198 | single nucleotide variant | NM_031418.4(ANO3):c.2027G>A (p.Arg676Gln) | not provided [RCV005242884] | likely benign | 11 | 26635054 | 26635054 | Human | | name |
| 598123838 | CV3890453 | single nucleotide variant | NM_031418.4(ANO3):c.1506C>A (p.Asp502Glu) | not provided [RCV005250972] | uncertain significance | 11 | 26598423 | 26598423 | Human | | name |
| 598179800 | CV3993751 | single nucleotide variant | NM_031418.4(ANO3):c.2822G>T (p.Gly941Val) | Inborn genetic diseases [RCV005372003] | uncertain significance | 11 | 26660320 | 26660320 | Human | 1 | name |
| 598213931 | CV3993754 | single nucleotide variant | NM_031418.4(ANO3):c.1294G>C (p.Glu432Gln) | Inborn genetic diseases [RCV005378451] | uncertain significance | 11 | 26553253 | 26553253 | Human | 1 | name |
| 598213936 | CV3993756 | single nucleotide variant | NM_031418.4(ANO3):c.1775A>C (p.Gln592Pro) | Inborn genetic diseases [RCV005378452] | uncertain significance | 11 | 26599653 | 26599653 | Human | 1 | name |
| 598179819 | CV3993758 | single nucleotide variant | NM_031418.4(ANO3):c.1475G>A (p.Arg492Lys) | Inborn genetic diseases [RCV005372007] | uncertain significance | 11 | 26598392 | 26598392 | Human | 1 | name |
| 13445924 | CV437888 | single nucleotide variant | NM_031418.4(ANO3):c.2267T>C (p.Leu756Ser) | not provided [RCV000513039] | uncertain significance | 11 | 26642021 | 26642021 | Human | | name |
| 13446143 | CV437889 | single nucleotide variant | NM_031418.4(ANO3):c.2812G>A (p.Val938Ile) | Dystonic disorder [RCV000811628]|not provided [RCV000513327] | uncertain significance | 11 | 26660310 | 26660310 | Human | 2 | name |
| 13481199 | CV444787 | single nucleotide variant | NM_031418.4(ANO3):c.2453G>C (p.Gly818Ala) | Dystonic disorder [RCV003746534]|not provided [RCV000521445] | uncertain significance | 11 | 26647733 | 26647733 | Human | 2 | name |
| 13488331 | CV460999 | single nucleotide variant | NM_031418.4(ANO3):c.1807A>G (p.Asn603Asp) | Dystonia 24 [RCV003338647]|Dystonic disorder [RCV000554751] | uncertain significance | 11 | 26599685 | 26599685 | Human | 3 | name , alternate_id |
| 13473906 | CV461140 | single nucleotide variant | NM_031418.4(ANO3):c.1215G>A (p.Met405Ile) | Dystonic disorder [RCV000525591]|Inborn genetic diseases [RCV004023743]|not provided [RCV001555126] | uncertain significance | 11 | 26547476 | 26547476 | Human | 3 | name |
| 8604261 | CV48095 | single nucleotide variant | NM_031418.4(ANO3):c.1480A>T (p.Arg494Trp) | Dystonia 24 [RCV000032692] | pathogenic | 11 | 26598397 | 26598397 | Human | 1 | name , alternate_id |
| 8570466 | CV48096 | single nucleotide variant | NM_031418.4(ANO3):c.1470G>T (p.Trp490Cys) | Dystonia 24 [RCV000032693] | pathogenic | 11 | 26598387 | 26598387 | Human | 1 | name , alternate_id |
| 8604262 | CV48097 | single nucleotide variant | NM_031418.4(ANO3):c.2053A>G (p.Ser685Gly) | Dystonia 24 [RCV000032694] | pathogenic | 11 | 26639153 | 26639153 | Human | 1 | name , alternate_id |
| 8570467 | CV48098 | single nucleotide variant | NM_031418.4(ANO3):c.2586G>T (p.Lys862Asn) | Dystonia 24 [RCV000032695] | pathogenic | 11 | 26656134 | 26656134 | Human | 1 | name , alternate_id |
| 13530713 | CV511909 | single nucleotide variant | NM_031418.4(ANO3):c.1819A>T (p.Ile607Phe) | Dystonia 24 [RCV005253001]|Inborn genetic diseases [RCV000622714]|not provided [RCV001268150] | pathogenic|likely pathogenic|uncertain significance | 11 | 26599697 | 26599697 | Human | 2 | name , alternate_id |
| 13612369 | CV526222 | single nucleotide variant | NM_031418.4(ANO3):c.1234G>A (p.Val412Ile) | Dystonic disorder [RCV000630708] | uncertain significance | 11 | 26547495 | 26547495 | Human | 2 | name |
| 13612378 | CV526235 | single nucleotide variant | NM_031418.4(ANO3):c.1795G>C (p.Ala599Pro) | Dystonic disorder [RCV000630710] | uncertain significance | 11 | 26599673 | 26599673 | Human | 2 | name |
| 13706011 | CV537150 | single nucleotide variant | NM_031418.4(ANO3):c.1507C>G (p.Leu503Val) | not provided [RCV000658588] | uncertain significance | 11 | 26598424 | 26598424 | Human | | name |
| 14706620 | CV639916 | single nucleotide variant | NM_031418.4(ANO3):c.1003T>A (p.Ser335Thr) | Dystonic disorder [RCV000792056]|not provided [RCV004773145] | uncertain significance | 11 | 26537432 | 26537432 | Human | 2 | name |
| 14732713 | CV639917 | single nucleotide variant | NM_031418.4(ANO3):c.1111C>T (p.Arg371Cys) | Dystonic disorder [RCV000801957]|not provided [RCV003326495] | uncertain significance | 11 | 26542025 | 26542025 | Human | 2 | name |
| 14733902 | CV639918 | single nucleotide variant | NM_031418.4(ANO3):c.1522G>T (p.Glu508Ter) | Dystonic disorder [RCV000818899] | uncertain significance | 11 | 26598439 | 26598439 | Human | 2 | name |
| 14717052 | CV639919 | single nucleotide variant | NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) | Dystonia 24 [RCV000995494]|Dystonic disorder [RCV000795317]|not provided [RCV004719992] | pathogenic|likely pathogenic | 11 | 26598445 | 26598445 | Human | 3 | name , alternate_id |
| 14703077 | CV639920 | single nucleotide variant | NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser) | Dystonia 24 [RCV003336201]|Dystonic disorder [RCV000807199] | pathogenic|likely pathogenic|uncertain significance | 11 | 26634273 | 26634273 | Human | 3 | name , alternate_id |
| 14728119 | CV639921 | single nucleotide variant | NM_031418.4(ANO3):c.2301C>G (p.Ile767Met) | Dystonic disorder [RCV000799910]|not provided [RCV004777874] | uncertain significance | 11 | 26643207 | 26643207 | Human | 2 | name |
| 21073933 | CV796560 | single nucleotide variant | NM_031418.4(ANO3):c.1831A>T (p.Asn611Tyr) | not provided [RCV000994589] | uncertain significance | 11 | 26599709 | 26599709 | Human | | name |
| 21073936 | CV796562 | single nucleotide variant | NM_031418.4(ANO3):c.2426T>C (p.Ile809Thr) | not provided [RCV000994591] | uncertain significance | 11 | 26643332 | 26643332 | Human | | name |
| 21074727 | CV798641 | single nucleotide variant | NM_031418.4(ANO3):c.1969G>A (p.Ala657Thr) | Dystonia 24 [RCV000995495]|Dystonic disorder [RCV005093001] | likely pathogenic | 11 | 26634299 | 26634299 | Human | 3 | name , alternate_id |
| 26916633 | CV838245 | single nucleotide variant | NM_031418.4(ANO3):c.2014A>G (p.Lys672Glu) | Dystonic disorder [RCV001056469] | uncertain significance | 11 | 26635041 | 26635041 | Human | 2 | name |
| 26893879 | CV838246 | single nucleotide variant | NM_031418.4(ANO3):c.2905C>T (p.Arg969Trp) | Dystonic disorder [RCV001069167]|not provided [RCV003313178] | uncertain significance | 11 | 26660403 | 26660403 | Human | 2 | name |
| 28884094 | CV859863 | single nucleotide variant | NM_031418.4(ANO3):c.2767C>T (p.Leu923Phe) | Dystonic disorder [RCV005093459]|not provided [RCV001091516] | uncertain significance | 11 | 26660265 | 26660265 | Human | 2 | name |
| 34891405 | CV904555 | single nucleotide variant | NM_031418.4(ANO3):c.1735T>A (p.Phe579Ile) | not provided [RCV001172047] | uncertain significance | 11 | 26599613 | 26599613 | Human | | name |
| 38460933 | CV919354 | single nucleotide variant | NM_031418.4(ANO3):c.1882C>T (p.Arg628Ter) | Dystonia 24 [RCV001197046] | uncertain significance | 11 | 26634212 | 26634212 | Human | 1 | name , alternate_id |
| 126767278 | CV994450 | single nucleotide variant | NM_031418.4(ANO3):c.1535C>T (p.Thr512Ile) | Dystonic disorder [RCV001302221] | uncertain significance | 11 | 26598862 | 26598862 | Human | 2 | name |
| 126740143 | CV994451 | single nucleotide variant | NM_031418.4(ANO3):c.2609C>T (p.Ser870Phe) | Dystonia 24 [RCV001810022]|Dystonic disorder [RCV001305233]|Inborn genetic diseases [RCV002543125] | uncertain significance | 11 | 26656157 | 26656157 | Human | 4 | name , alternate_id |
| 153346338 | CV1693562 | single nucleotide variant | NM_001313726.2(ANO3):c.104C>G (p.Ser35Cys) | not provided [RCV002275488] | uncertain significance | 11 | 26189280 | 26189280 | Human | | name |
| 596927489 | CV3541102 | single nucleotide variant | NM_001313726.2(ANO3):c.118C>T (p.Gln40Ter) | Dystonia 24 [RCV004796972] | uncertain significance | 11 | 26189294 | 26189294 | Human | 1 | name , alternate_id |
| 150415912 | CV1191212 | insertion | NM_031418.4(ANO3):c.1290-26_1290-25insTTTTT | not provided [RCV001568197] | likely benign | 11 | 26553219 | 26553220 | Human | | name |
| 156328892 | CV2116298 | indel | NM_031418.4(ANO3):c.1290-14_1290-13delinsGT | Dystonic disorder [RCV002938250] | likely benign | 11 | 26553235 | 26553236 | Human | | name |
| 408389920 | CV3519135 | deletion | NM_031418.4(ANO3):c.427_430del (p.Ser143fs) | not provided [RCV004762444] | uncertain significance | 11 | 26463141 | 26463144 | Human | | name |
| 152088834 | CV1655766 | microsatellite | NM_031418.4(ANO3):c.2897AAC[2] (p.Gln968del) | Dystonic disorder [RCV002194025] | likely benign | 11 | 26660394 | 26660396 | Human | | name |
| 13805611 | CV565646 | deletion | NM_031418.4(ANO3):c.1479_1481del (p.Arg494del) | Dystonic disorder [RCV000685804] | uncertain significance | 11 | 26598394 | 26598396 | Human | 2 | name |
| 408392713 | CV3528255 | indel | NM_031418.4(ANO3):c.2945_2946delinsGC (p.Ter982Cys) | not provided [RCV004776023] | uncertain significance | 11 | 26660443 | 26660444 | Human | | name |
| 407426966 | CV3411766 | duplication | NM_031418.4(ANO3):c.1415_1423dup (p.Phe474_Phe475insSerValPhe) | not provided [RCV004590944] | uncertain significance | 11 | 26559746 | 26559747 | Human | | name |