| 150474029 | CV1263000 | duplication | NM_012127.3(CIZ1):c.-5-1505dup | not provided [RCV001684816] | benign | 9 | 128192366 | 128192367 | Human | | name |
| 151824332 | CV1429340 | single nucleotide variant | NM_001131016.2(CIZ1):c.682+5G>A | Dystonic disorder [RCV001993091] | uncertain significance | 9 | 128180716 | 128180716 | Human | 2 | name |
| 151790749 | CV1436147 | single nucleotide variant | NM_001131016.2(CIZ1):c.286+6G>T | Dystonic disorder [RCV001990057] | uncertain significance | 9 | 128190323 | 128190323 | Human | 2 | name |
| 156128869 | CV1889260 | single nucleotide variant | NM_001131016.2(CIZ1):c.682+5G>C | Dystonic disorder [RCV003081752] | uncertain significance | 9 | 128180716 | 128180716 | Human | 2 | name |
| 156406697 | CV1891280 | single nucleotide variant | NM_001131016.2(CIZ1):c.358+8A>G | Dystonic disorder [RCV003070461] | uncertain significance | 9 | 128187855 | 128187855 | Human | 2 | name |
| 155958511 | CV2135360 | single nucleotide variant | NM_001131016.2(CIZ1):c.682+3G>A | Dystonic disorder [RCV002995030] | likely benign | 9 | 128180718 | 128180718 | Human | 2 | name |
| 405173820 | CV2918318 | single nucleotide variant | NM_001131016.2(CIZ1):c.791+8A>T | Dystonic disorder [RCV003587887] | likely benign | 9 | 128180407 | 128180407 | Human | 2 | name |
| 597943122 | CV3847421 | single nucleotide variant | NM_001131016.2(CIZ1):c.287-6C>T | Dystonic disorder [RCV005188340] | likely benign | 9 | 128187940 | 128187940 | Human | 2 | name |
| 597862594 | CV3860570 | single nucleotide variant | NM_001131016.2(CIZ1):c.588+9T>G | Dystonic disorder [RCV005196098] | likely benign | 9 | 128185538 | 128185538 | Human | 2 | name |
| 12884592 | CV397104 | single nucleotide variant | NM_001131016.2(CIZ1):c.683-7A>G | Dystonic disorder [RCV000463729]|not provided [RCV001541305] | benign | 9 | 128180530 | 128180530 | Human | 2 | name |
| 126922114 | CV1045873 | single nucleotide variant | NM_001131016.2(CIZ1):c.2295+6G>A | Dystonic disorder [RCV001364287] | uncertain significance | 9 | 128169046 | 128169046 | Human | 2 | name |
| 150334396 | CV1171911 | single nucleotide variant | NM_001131016.2(CIZ1):c.682+28A>G | not provided [RCV001540024] | benign | 9 | 128180693 | 128180693 | Human | | name |
| 150447668 | CV1253437 | single nucleotide variant | NM_001131016.2(CIZ1):c.792-47G>C | not provided [RCV001667365] | benign | 9 | 128179462 | 128179462 | Human | | name |
| 152037840 | CV1530322 | single nucleotide variant | NM_001131016.2(CIZ1):c.792-12G>T | Dystonic disorder [RCV002087507] | benign | 9 | 128179427 | 128179427 | Human | 2 | name |
| 152072090 | CV1544625 | single nucleotide variant | NM_001131016.2(CIZ1):c.683-17T>G | Dystonic disorder [RCV002129742] | benign | 9 | 128180540 | 128180540 | Human | 2 | name |
| 152138704 | CV1549572 | single nucleotide variant | NM_001131016.2(CIZ1):c.171-15C>G | Dystonic disorder [RCV002156478] | benign | 9 | 128190459 | 128190459 | Human | 2 | name |
| 152076692 | CV1606974 | single nucleotide variant | NM_001131016.2(CIZ1):c.358+15T>A | Dystonic disorder [RCV002130316] | likely benign | 9 | 128187848 | 128187848 | Human | 2 | name |
| 152150504 | CV1625783 | single nucleotide variant | NM_001131016.2(CIZ1):c.682+18C>T | Dystonic disorder [RCV002139440] | benign | 9 | 128180703 | 128180703 | Human | 2 | name |
| 155945130 | CV1875329 | single nucleotide variant | NM_001131016.2(CIZ1):c.170+18G>C | Dystonic disorder [RCV003073796] | likely benign | 9 | 128190670 | 128190670 | Human | 2 | name |
| 156200235 | CV1886315 | single nucleotide variant | NM_001131016.2(CIZ1):c.683-16C>T | Dystonic disorder [RCV003084189] | likely benign | 9 | 128180539 | 128180539 | Human | 2 | name |
| 156278610 | CV1900391 | single nucleotide variant | NM_001131016.2(CIZ1):c.171-16C>T | Dystonic disorder [RCV003087034] | likely benign | 9 | 128190460 | 128190460 | Human | 2 | name |
| 156305174 | CV2079744 | single nucleotide variant | NM_001131016.2(CIZ1):c.1498+1G>T | Dystonic disorder [RCV002857371] | uncertain significance | 9 | 128178708 | 128178708 | Human | 2 | name |
| 155931728 | CV2096105 | single nucleotide variant | NM_001131016.2(CIZ1):c.358+17A>T | Dystonic disorder [RCV002903866] | likely benign | 9 | 128187846 | 128187846 | Human | 2 | name |
| 156353108 | CV2118818 | single nucleotide variant | NM_001131016.2(CIZ1):c.286+16G>C | Dystonic disorder [RCV002966444] | likely benign | 9 | 128190313 | 128190313 | Human | 2 | name |
| 156012378 | CV2124690 | duplication | NM_001131016.2(CIZ1):c.792-13dup | Dystonic disorder [RCV002948342] | benign | 9 | 128179427 | 128179428 | Human | 2 | name |
| 156142849 | CV2125975 | single nucleotide variant | NM_001131016.2(CIZ1):c.682+13G>A | Dystonic disorder [RCV002954291] | benign | 9 | 128180708 | 128180708 | Human | 2 | name |
| 156163239 | CV2135603 | single nucleotide variant | NM_001131016.2(CIZ1):c.287-18C>T | Dystonic disorder [RCV002983084] | likely benign | 9 | 128187952 | 128187952 | Human | 2 | name |
| 156164109 | CV2135728 | single nucleotide variant | NM_001131016.2(CIZ1):c.171-14C>G | Dystonic disorder [RCV002983117] | benign | 9 | 128190458 | 128190458 | Human | 2 | name |
| 401911144 | CV2826414 | single nucleotide variant | NM_001131016.2(CIZ1):c.-6+173C>T | not provided [RCV003425793] | benign | 9 | 128191259 | 128191259 | Human | | name |
| 405164315 | CV2873339 | single nucleotide variant | NM_001131016.2(CIZ1):c.683-20C>T | Dystonic disorder [RCV003587001] | likely benign | 9 | 128180543 | 128180543 | Human | 2 | name |
| 405167199 | CV2883049 | single nucleotide variant | NM_001131016.2(CIZ1):c.683-18C>T | Dystonic disorder [RCV003587260] | likely benign | 9 | 128180541 | 128180541 | Human | 2 | name |
| 405246545 | CV3016231 | duplication | NM_001131016.2(CIZ1):c.1818+9dup | Dystonic disorder [RCV003746031] | likely benign | 9 | 128177556 | 128177557 | Human | 2 | name |
| 405246898 | CV3022324 | single nucleotide variant | NM_001131016.2(CIZ1):c.588+15G>T | Dystonic disorder [RCV003746157] | likely benign | 9 | 128185532 | 128185532 | Human | 2 | name |
| 405250429 | CV3069440 | single nucleotide variant | NM_001131016.2(CIZ1):c.358+10G>A | Dystonic disorder [RCV003747524] | likely benign | 9 | 128187853 | 128187853 | Human | 2 | name |
| 597940603 | CV3760615 | single nucleotide variant | NM_001131016.2(CIZ1):c.171-15C>T | Dystonic disorder [RCV005077342] | likely benign | 9 | 128190459 | 128190459 | Human | 2 | name |
| 597868323 | CV3764453 | single nucleotide variant | NM_001131016.2(CIZ1):c.358+16T>C | Dystonic disorder [RCV005107253] | likely benign | 9 | 128187847 | 128187847 | Human | 2 | name |
| 597928655 | CV3837323 | single nucleotide variant | NM_001131016.2(CIZ1):c.2366-7C>T | Dystonic disorder [RCV005185481] | likely benign | 9 | 128166887 | 128166887 | Human | 2 | name |
| 15172622 | CV775477 | single nucleotide variant | NM_001131016.2(CIZ1):c.588+10A>T | Dystonic disorder [RCV000928153] | likely benign | 9 | 128185537 | 128185537 | Human | 2 | name |
| 127241739 | CV1075982 | single nucleotide variant | NM_001131016.2(CIZ1):c.2488-10C>T | Dystonic disorder [RCV001415853] | likely benign | 9 | 128166416 | 128166416 | Human | 2 | name |
| 150339583 | CV1167460 | single nucleotide variant | NM_001131016.2(CIZ1):c.791+282A>G | not provided [RCV001534339] | benign | 9 | 128180133 | 128180133 | Human | | name |
| 150336194 | CV1171910 | single nucleotide variant | NM_001131016.2(CIZ1):c.1621-79C>T | not provided [RCV001540883] | benign | 9 | 128177842 | 128177842 | Human | | name |
| 150434859 | CV1215996 | single nucleotide variant | NM_001131016.2(CIZ1):c.792-241A>G | not provided [RCV001609185] | benign | 9 | 128179656 | 128179656 | Human | | name |
| 150443962 | CV1232946 | single nucleotide variant | NM_001131016.2(CIZ1):c.791+253G>A | not provided [RCV001645618] | benign | 9 | 128180162 | 128180162 | Human | | name |
| 150475964 | CV1239813 | single nucleotide variant | NM_001131016.2(CIZ1):c.286+200A>G | not provided [RCV001651990] | benign | 9 | 128190129 | 128190129 | Human | | name |
| 150467951 | CV1256978 | single nucleotide variant | NM_001131016.2(CIZ1):c.1818+20G>A | Dystonic disorder [RCV002073186]|not provided [RCV001670624] | benign | 9 | 128177546 | 128177546 | Human | 2 | name |
| 150468760 | CV1259545 | single nucleotide variant | NM_001131016.2(CIZ1):c.1499-53G>A | not provided [RCV001683845] | benign | 9 | 128178543 | 128178543 | Human | | name |
| 150452775 | CV1260438 | single nucleotide variant | NM_001131016.2(CIZ1):c.588+193A>G | not provided [RCV001680928] | benign | 9 | 128185354 | 128185354 | Human | | name |
| 150484393 | CV1263167 | single nucleotide variant | NM_001131016.2(CIZ1):c.1621-24G>A | not provided [RCV001686567] | benign | 9 | 128177787 | 128177787 | Human | | name |
| 150435884 | CV1270875 | single nucleotide variant | NM_001131016.2(CIZ1):c.359-257A>G | not provided [RCV001689425] | benign | 9 | 128186033 | 128186033 | Human | | name |
| 150489495 | CV1279057 | single nucleotide variant | NM_001131016.2(CIZ1):c.2031+17G>A | Dystonic disorder [RCV002073319]|not provided [RCV001716304] | benign | 9 | 128170003 | 128170003 | Human | 2 | name |
| 150474284 | CV1281757 | single nucleotide variant | NM_001131016.2(CIZ1):c.2145+99G>T | not provided [RCV001713669] | benign | 9 | 128169307 | 128169307 | Human | | name |
| 152094938 | CV1561864 | single nucleotide variant | NM_001131016.2(CIZ1):c.2366-12C>T | Dystonic disorder [RCV002194791] | likely benign | 9 | 128166892 | 128166892 | Human | 2 | name |
| 152146829 | CV1615468 | single nucleotide variant | NM_001131016.2(CIZ1):c.1620+18T>C | Dystonic disorder [RCV002101604]|not provided [RCV004719002] | benign | 9 | 128178351 | 128178351 | Human | 2 | name |
| 152135360 | CV1642279 | single nucleotide variant | NM_001131016.2(CIZ1):c.2296-18A>G | Dystonic disorder [RCV002119630] | likely benign | 9 | 128167182 | 128167182 | Human | 2 | name |
| 152080534 | CV1663658 | single nucleotide variant | NM_001131016.2(CIZ1):c.2145+13C>T | Dystonic disorder [RCV002149251] | benign | 9 | 128169393 | 128169393 | Human | 2 | name |
| 155906719 | CV2027641 | single nucleotide variant | NM_001131016.2(CIZ1):c.1943+15G>A | Dystonic disorder [RCV002726515] | likely benign | 9 | 128176336 | 128176336 | Human | 2 | name |
| 155952299 | CV2043784 | single nucleotide variant | NM_001131016.2(CIZ1):c.1944-20C>A | Dystonic disorder [RCV002775837] | likely benign | 9 | 128170127 | 128170127 | Human | 2 | name |
| 156299277 | CV2119408 | single nucleotide variant | NM_001131016.2(CIZ1):c.1943+14C>T | Dystonic disorder [RCV002962064] | benign | 9 | 128176337 | 128176337 | Human | 2 | name |
| 156155355 | CV2121906 | single nucleotide variant | NM_001131016.2(CIZ1):c.2031+16C>T | Dystonic disorder [RCV002929044]|not provided [RCV004719013] | benign | 9 | 128170004 | 128170004 | Human | 2 | name |
| 155931760 | CV2156705 | single nucleotide variant | NM_001131016.2(CIZ1):c.2365+10C>T | Dystonic disorder [RCV003013671] | likely benign | 9 | 128167085 | 128167085 | Human | 2 | name |
| 405166781 | CV2891433 | single nucleotide variant | NM_001131016.2(CIZ1):c.2488-16C>T | Dystonic disorder [RCV003587085] | likely benign | 9 | 128166422 | 128166422 | Human | 2 | name |
| 405249484 | CV2985958 | single nucleotide variant | NM_001131016.2(CIZ1):c.2296-11C>T | Dystonic disorder [RCV003747146] | uncertain significance | 9 | 128167175 | 128167175 | Human | 2 | name |
| 405247560 | CV3044172 | single nucleotide variant | NM_001131016.2(CIZ1):c.1499-20C>T | Dystonic disorder [RCV003746418] | likely benign | 9 | 128178510 | 128178510 | Human | 2 | name |
| 405247624 | CV3054980 | single nucleotide variant | NM_001131016.2(CIZ1):c.2146-14T>G | Dystonic disorder [RCV003746443] | likely benign | 9 | 128169215 | 128169215 | Human | 2 | name |
| 597945202 | CV3755319 | single nucleotide variant | NM_001131016.2(CIZ1):c.2032-14C>T | Dystonic disorder [RCV005078328] | likely benign | 9 | 128169533 | 128169533 | Human | 2 | name |
| 150332616 | CV1169308 | single nucleotide variant | NM_001131016.2(CIZ1):c.1818+138T>A | not provided [RCV001536971] | benign | 9 | 128177428 | 128177428 | Human | | name |
| 150447730 | CV1216157 | single nucleotide variant | NM_001131016.2(CIZ1):c.2296-308T>A | not provided [RCV001611455] | benign | 9 | 128167472 | 128167472 | Human | | name |
| 150486715 | CV1283657 | single nucleotide variant | NM_001131016.2(CIZ1):c.2488-127G>A | not provided [RCV001715830] | benign | 9 | 128166533 | 128166533 | Human | | name |
| 150486755 | CV1283667 | single nucleotide variant | NM_001131016.2(CIZ1):c.2295+263G>A | not provided [RCV001715837] | benign | 9 | 128168789 | 128168789 | Human | | name |
| 13820792 | CV576130 | single nucleotide variant | NM_001131016.2(CIZ1):c.2032-138A>G | Dystonia, primary cervical [RCV000709866] | not provided | 9 | 128169657 | 128169657 | Human | | name |
| 156053595 | CV2027489 | microsatellite | NM_001131016.2(CIZ1):c.682+3GAGG[4] | Dystonic disorder [RCV002736591] | likely benign | 9 | 128180706 | 128180707 | Human | | name |
| 405248274 | CV2943991 | single nucleotide variant | NM_001131016.2(CIZ1):c.27G>A (p.Gln9=) | Dystonic disorder [RCV003746725] | likely benign | 9 | 128190831 | 128190831 | Human | 2 | name |
| 405248842 | CV2967932 | single nucleotide variant | NM_001131016.2(CIZ1):c.21G>A (p.Gln7=) | Dystonic disorder [RCV003746928] | likely benign | 9 | 128190837 | 128190837 | Human | 2 | name |
| 150333137 | CV1164334 | single nucleotide variant | NM_001257975.2(CIZ1):c.45G>T (p.Ala15=) | CIZ1-related disorder [RCV003956214]|not provided [RCV001528704] | benign|likely benign | 9 | 128191895 | 128191895 | Human | | name , trait , alternate_id |
| 150486708 | CV1283656 | duplication | NM_001131016.2(CIZ1):c.682+84_682+96dup | not provided [RCV001715829] | benign | 9 | 128180624 | 128180625 | Human | | name |
| 152053765 | CV1595958 | deletion | NM_001131016.2(CIZ1):c.791+19_791+20del | Dystonic disorder [RCV002072691] | benign | 9 | 128180395 | 128180396 | Human | 2 | name |
| 156393970 | CV1876276 | single nucleotide variant | NM_001131016.2(CIZ1):c.51C>T (p.Leu17=) | Dystonic disorder [RCV003068364] | likely benign | 9 | 128190807 | 128190807 | Human | 2 | name |
| 156260552 | CV1960625 | single nucleotide variant | NM_001131016.2(CIZ1):c.42G>A (p.Gln14=) | Dystonic disorder [RCV002576831] | likely benign | 9 | 128190816 | 128190816 | Human | 2 | name |
| 405249548 | CV2989632 | single nucleotide variant | NM_001131016.2(CIZ1):c.174G>C (p.Gly58=) | Dystonic disorder [RCV003747173] | likely benign | 9 | 128190441 | 128190441 | Human | 2 | name |
| 127271713 | CV1075984 | single nucleotide variant | NM_001131016.2(CIZ1):c.942G>A (p.Arg314=) | Dystonic disorder [RCV001405420] | likely benign | 9 | 128179265 | 128179265 | Human | 2 | name |
| 127246068 | CV1097675 | single nucleotide variant | NM_001131016.2(CIZ1):c.984G>A (p.Pro328=) | Dystonic disorder [RCV001435328] | likely benign | 9 | 128179223 | 128179223 | Human | 2 | name |
| 127274582 | CV1097676 | single nucleotide variant | NM_001131016.2(CIZ1):c.978T>A (p.Thr326=) | Dystonic disorder [RCV001442905] | likely benign | 9 | 128179229 | 128179229 | Human | 2 | name |
| 150491321 | CV1280311 | deletion | NM_001131016.2(CIZ1):c.1944-12_1944-11del | Dystonic disorder [RCV002073330]|not provided [RCV001716623] | benign | 9 | 128170118 | 128170119 | Human | 2 | name |
| 151353550 | CV1326710 | single nucleotide variant | NM_001131016.2(CIZ1):c.892C>T (p.Leu298=) | Dystonic disorder [RCV002074250]|not provided [RCV001816516] | likely benign | 9 | 128179315 | 128179315 | Human | 2 | name |
| 152057588 | CV1656561 | single nucleotide variant | NM_001131016.2(CIZ1):c.795A>C (p.Ser265=) | CIZ1-related disorder [RCV003951074]|Dystonic disorder [RCV002109733] | benign|likely benign | 9 | 128179412 | 128179412 | Human | 2 | name , trait , alternate_id |
| 155959657 | CV1912019 | single nucleotide variant | NM_001131016.2(CIZ1):c.576C>T (p.Thr192=) | Dystonic disorder [RCV002616671] | benign | 9 | 128185559 | 128185559 | Human | 2 | name |
| 156406823 | CV1917878 | single nucleotide variant | NM_001131016.2(CIZ1):c.849G>A (p.Pro283=) | Dystonic disorder [RCV002606713]|not provided [RCV004707815] | likely benign | 9 | 128179358 | 128179358 | Human | 2 | name |
| 156217359 | CV1927855 | single nucleotide variant | NM_001131016.2(CIZ1):c.765C>T (p.Ser255=) | Dystonic disorder [RCV002644254] | likely benign | 9 | 128180441 | 128180441 | Human | 2 | name |
| 156240866 | CV1996358 | single nucleotide variant | NM_001131016.2(CIZ1):c.846G>A (p.Gln282=) | Dystonic disorder [RCV002667922] | likely benign | 9 | 128179361 | 128179361 | Human | 2 | name |
| 156368312 | CV2113232 | single nucleotide variant | NM_001131016.2(CIZ1):c.762G>A (p.Ala254=) | Dystonic disorder [RCV002942125] | likely benign | 9 | 128180444 | 128180444 | Human | 2 | name |
| 156297409 | CV2119312 | single nucleotide variant | NM_001131016.2(CIZ1):c.654C>T (p.Ala218=) | Dystonic disorder [RCV002961985] | benign | 9 | 128180749 | 128180749 | Human | 2 | name |
| 156120395 | CV2128498 | single nucleotide variant | NM_001131016.2(CIZ1):c.543C>G (p.Pro181=) | Dystonic disorder [RCV002953474] | likely benign | 9 | 128185592 | 128185592 | Human | 2 | name |
| 329353085 | CV2471453 | single nucleotide variant | NM_001131016.2(CIZ1):c.42G>C (p.Gln14His) | not specified [RCV004280451] | uncertain significance | 9 | 128190816 | 128190816 | Human | | name |
| 405159780 | CV2862212 | single nucleotide variant | NM_001131016.2(CIZ1):c.525C>T (p.Asn175=) | Dystonic disorder [RCV003586631] | likely benign | 9 | 128185610 | 128185610 | Human | 2 | name |
| 405167052 | CV2886335 | single nucleotide variant | NM_001131016.2(CIZ1):c.954C>T (p.Val318=) | Dystonic disorder [RCV003587247] | likely benign | 9 | 128179253 | 128179253 | Human | 2 | name |
| 405248474 | CV2960390 | single nucleotide variant | NM_001131016.2(CIZ1):c.579C>T (p.Pro193=) | Dystonic disorder [RCV003746807] | likely benign | 9 | 128185556 | 128185556 | Human | 2 | name |
| 405247192 | CV3024236 | single nucleotide variant | NM_001131016.2(CIZ1):c.784T>C (p.Leu262=) | Dystonic disorder [RCV003746251] | likely benign | 9 | 128180422 | 128180422 | Human | 2 | name |
| 405247416 | CV3042807 | single nucleotide variant | NM_001131016.2(CIZ1):c.93G>T (p.Gln31His) | Dystonic disorder [RCV003746362] | uncertain significance | 9 | 128190765 | 128190765 | Human | 2 | name |
| 405273652 | CV3207520 | single nucleotide variant | NM_001131016.2(CIZ1):c.945C>T (p.Val315=) | CIZ1-related disorder [RCV003914771] | likely benign | 9 | 128179262 | 128179262 | Human | | name , trait , alternate_id |
| 597963148 | CV3791868 | single nucleotide variant | NM_001131016.2(CIZ1):c.399A>G (p.Ala133=) | Dystonic disorder [RCV005139424] | likely benign | 9 | 128185736 | 128185736 | Human | 2 | name |
| 12886474 | CV396441 | single nucleotide variant | NM_001131016.2(CIZ1):c.708G>A (p.Glu236=) | Dystonic disorder [RCV000467279]|not provided [RCV004718693] | benign | 9 | 128180498 | 128180498 | Human | 2 | name |
| 12890988 | CV396442 | single nucleotide variant | NM_001131016.2(CIZ1):c.396C>T (p.Leu132=) | Dystonic disorder [RCV000475715]|not provided [RCV001672783] | benign | 9 | 128185739 | 128185739 | Human | 2 | name |
| 12889857 | CV396716 | single nucleotide variant | NM_001131016.2(CIZ1):c.696G>A (p.Pro232=) | Dystonic disorder [RCV000473525] | benign | 9 | 128180510 | 128180510 | Human | 2 | name |
| 15150981 | CV687373 | single nucleotide variant | NM_001131016.2(CIZ1):c.999A>G (p.Thr333=) | Dystonic disorder [RCV001511865] | benign | 9 | 128179208 | 128179208 | Human | 2 | name |
| 15156656 | CV687374 | single nucleotide variant | NM_001131016.2(CIZ1):c.870G>A (p.Pro290=) | Dystonic disorder [RCV000868276]|not provided [RCV004718775] | benign | 9 | 128179337 | 128179337 | Human | 2 | name |
| 15105292 | CV687375 | single nucleotide variant | NM_001131016.2(CIZ1):c.804C>T (p.Pro268=) | Dystonic disorder [RCV001456341] | likely benign | 9 | 128179403 | 128179403 | Human | 2 | name |
| 15147502 | CV687376 | single nucleotide variant | NM_001131016.2(CIZ1):c.753T>C (p.Pro251=) | Dystonic disorder [RCV000866469] | benign | 9 | 128180453 | 128180453 | Human | 2 | name |
| 127239545 | CV1097673 | single nucleotide variant | NM_001131016.2(CIZ1):c.2520C>T (p.Thr840=) | Dystonic disorder [RCV001433993]|not provided [RCV004720912] | likely benign | 9 | 128166374 | 128166374 | Human | 2 | name |
| 127297718 | CV1119262 | single nucleotide variant | NM_001131016.2(CIZ1):c.2493C>T (p.Tyr831=) | Dystonic disorder [RCV001460315] | likely benign | 9 | 128166401 | 128166401 | Human | 2 | name |
| 127335924 | CV1119263 | single nucleotide variant | NM_001131016.2(CIZ1):c.1995G>A (p.Gly665=) | Dystonic disorder [RCV001474613] | likely benign | 9 | 128170056 | 128170056 | Human | 2 | name |
| 127298028 | CV1140099 | single nucleotide variant | NM_001131016.2(CIZ1):c.2589C>T (p.Ser863=) | Dystonic disorder [RCV001497918] | likely benign | 9 | 128166305 | 128166305 | Human | 2 | name |
| 127285917 | CV1140100 | single nucleotide variant | NM_001131016.2(CIZ1):c.2238G>A (p.Glu746=) | Dystonic disorder [RCV001493839] | likely benign | 9 | 128169109 | 128169109 | Human | 2 | name |
| 152116710 | CV1523843 | single nucleotide variant | NM_001131016.2(CIZ1):c.1458C>T (p.Cys486=) | Dystonic disorder [RCV002135188] | likely benign | 9 | 128178749 | 128178749 | Human | 2 | name |
| 152137795 | CV1603800 | single nucleotide variant | NM_001131016.2(CIZ1):c.2220C>T (p.Phe740=) | Dystonic disorder [RCV002218958] | likely benign | 9 | 128169127 | 128169127 | Human | 2 | name |
| 156396955 | CV1870957 | single nucleotide variant | NM_001131016.2(CIZ1):c.1221G>C (p.Val407=) | Dystonic disorder [RCV003068715] | likely benign | 9 | 128178986 | 128178986 | Human | 2 | name |
| 155943431 | CV1878805 | single nucleotide variant | NM_001131016.2(CIZ1):c.238C>T (p.Leu80Phe) | Dystonic disorder [RCV003073694] | uncertain significance | 9 | 128190377 | 128190377 | Human | 2 | name |
| 156057763 | CV1879801 | single nucleotide variant | NM_001131016.2(CIZ1):c.1536A>G (p.Gln512=) | Dystonic disorder [RCV003053228] | likely benign | 9 | 128178453 | 128178453 | Human | 2 | name |
| 156012571 | CV1880597 | single nucleotide variant | NM_001131016.2(CIZ1):c.1326C>T (p.Ser442=) | Dystonic disorder [RCV003077176] | likely benign | 9 | 128178881 | 128178881 | Human | 2 | name |
| 156154433 | CV1896176 | single nucleotide variant | NM_001131016.2(CIZ1):c.173G>T (p.Gly58Val) | Dystonic disorder [RCV003082662] | uncertain significance | 9 | 128190442 | 128190442 | Human | 2 | name |
| 156357752 | CV1897634 | single nucleotide variant | NM_001131016.2(CIZ1):c.1407G>A (p.Pro469=) | Dystonic disorder [RCV002602286] | likely benign | 9 | 128178800 | 128178800 | Human | 2 | name |
| 156293000 | CV1908121 | single nucleotide variant | NM_001131016.2(CIZ1):c.1353G>A (p.Ala451=) | Dystonic disorder [RCV002598833] | likely benign | 9 | 128178854 | 128178854 | Human | 2 | name |
| 156200976 | CV1915576 | single nucleotide variant | NM_001131016.2(CIZ1):c.2139C>T (p.Ala713=) | Dystonic disorder [RCV002643631] | likely benign | 9 | 128169412 | 128169412 | Human | 2 | name |
| 156298930 | CV1919847 | single nucleotide variant | NM_001131016.2(CIZ1):c.1845T>A (p.Pro615=) | Dystonic disorder [RCV002599075] | likely benign | 9 | 128176449 | 128176449 | Human | 2 | name |
| 156317674 | CV1920791 | single nucleotide variant | NM_001131016.2(CIZ1):c.1359G>C (p.Val453=) | Dystonic disorder [RCV002600044] | likely benign | 9 | 128178848 | 128178848 | Human | 2 | name |
| 156361425 | CV1931676 | single nucleotide variant | NM_001131016.2(CIZ1):c.2043A>G (p.Gln681=) | Dystonic disorder [RCV002632703] | likely benign | 9 | 128169508 | 128169508 | Human | 2 | name |
| 156103035 | CV1956651 | single nucleotide variant | NM_001131016.2(CIZ1):c.1071A>G (p.Gln357=) | Dystonic disorder [RCV002570919] | likely benign | 9 | 128179136 | 128179136 | Human | 2 | name |
| 156384636 | CV1971830 | single nucleotide variant | NM_001131016.2(CIZ1):c.2616C>A (p.Thr872=) | Dystonic disorder [RCV002604210] | likely benign | 9 | 128166278 | 128166278 | Human | 2 | name |
| 155941211 | CV2038220 | single nucleotide variant | NM_001131016.2(CIZ1):c.1635G>A (p.Gly545=) | Dystonic disorder [RCV002775205] | uncertain significance | 9 | 128177749 | 128177749 | Human | 2 | name |
| 155929775 | CV2067205 | single nucleotide variant | NM_001131016.2(CIZ1):c.2553C>T (p.Asn851=) | Dystonic disorder [RCV002838704]|not specified [RCV004897770] | likely benign | 9 | 128166341 | 128166341 | Human | 2 | name |
| 155946953 | CV2068865 | single nucleotide variant | NM_001131016.2(CIZ1):c.1734C>T (p.Ser578=) | Dystonic disorder [RCV002862127] | likely benign | 9 | 128177650 | 128177650 | Human | 2 | name |
| 156297389 | CV2119311 | single nucleotide variant | NM_001131016.2(CIZ1):c.1416G>A (p.Ser472=) | Dystonic disorder [RCV002961984] | benign | 9 | 128178791 | 128178791 | Human | 2 | name |
| 156392998 | CV2123704 | single nucleotide variant | NM_001131016.2(CIZ1):c.1968C>T (p.Cys656=) | Dystonic disorder [RCV002944103] | likely benign | 9 | 128170083 | 128170083 | Human | 2 | name |
| 156105622 | CV2180943 | single nucleotide variant | NM_001131016.2(CIZ1):c.184C>T (p.Gln62Ter) | Dystonic disorder [RCV003054886] | uncertain significance | 9 | 128190431 | 128190431 | Human | 2 | name |
| 156331216 | CV2181040 | single nucleotide variant | NM_001131016.2(CIZ1):c.2433C>T (p.Asn811=) | Dystonic disorder [RCV003047223] | likely benign | 9 | 128166813 | 128166813 | Human | 2 | name |
| 11345664 | CV240465 | single nucleotide variant | NM_001131016.2(CIZ1):c.2205C>T (p.Asp735=) | Dystonic disorder [RCV000225904]|not provided [RCV004718113] | benign | 9 | 128169142 | 128169142 | Human | 2 | name |
| 329360416 | CV2442787 | single nucleotide variant | NM_001131016.2(CIZ1):c.181C>G (p.Pro61Ala) | Dystonic disorder [RCV005101235]|not specified [RCV004251616] | likely benign|uncertain significance | 9 | 128190434 | 128190434 | Human | 2 | name |
| 401911143 | CV2826411 | single nucleotide variant | NM_001131016.2(CIZ1):c.2595C>G (p.Arg865=) | not provided [RCV003425792] | likely benign | 9 | 128166299 | 128166299 | Human | | name |
| 401918464 | CV2826412 | single nucleotide variant | NM_001131016.2(CIZ1):c.1188G>A (p.Glu396=) | not provided [RCV003430259] | likely benign | 9 | 128179019 | 128179019 | Human | | name |
| 405163786 | CV2876158 | single nucleotide variant | NM_001131016.2(CIZ1):c.1386T>C (p.His462=) | Dystonic disorder [RCV003586916] | likely benign | 9 | 128178821 | 128178821 | Human | 2 | name |
| 405164268 | CV2877098 | single nucleotide variant | NM_001131016.2(CIZ1):c.2118C>A (p.Ser706=) | Dystonic disorder [RCV003586997] | likely benign | 9 | 128169433 | 128169433 | Human | 2 | name |
| 405162105 | CV2878480 | single nucleotide variant | NM_001131016.2(CIZ1):c.1911C>T (p.Pro637=) | Dystonic disorder [RCV003586821] | benign | 9 | 128176383 | 128176383 | Human | 2 | name |
| 405162597 | CV2879073 | single nucleotide variant | NM_001131016.2(CIZ1):c.2337G>A (p.Ser779=) | Dystonic disorder [RCV003586860] | uncertain significance | 9 | 128167123 | 128167123 | Human | 2 | name |
| 405165655 | CV2881758 | single nucleotide variant | NM_001131016.2(CIZ1):c.1239A>G (p.Ser413=) | Dystonic disorder [RCV003587122] | likely benign | 9 | 128178968 | 128178968 | Human | 2 | name |
| 405165677 | CV2881784 | single nucleotide variant | NM_001131016.2(CIZ1):c.1392G>A (p.Gln464=) | Dystonic disorder [RCV003587124] | likely benign | 9 | 128178815 | 128178815 | Human | 2 | name |
| 405167893 | CV2881908 | single nucleotide variant | NM_001131016.2(CIZ1):c.1623A>G (p.Val541=) | Dystonic disorder [RCV003587160] | likely benign | 9 | 128177761 | 128177761 | Human | 2 | name |
| 405168468 | CV2897960 | single nucleotide variant | NM_001131016.2(CIZ1):c.200C>T (p.Pro67Leu) | Dystonic disorder [RCV003587370] | uncertain significance | 9 | 128190415 | 128190415 | Human | 2 | name |
| 405169222 | CV2905485 | single nucleotide variant | NM_001131016.2(CIZ1):c.1605G>A (p.Ala535=) | Dystonic disorder [RCV003587436] | likely benign | 9 | 128178384 | 128178384 | Human | 2 | name |
| 405173230 | CV2910374 | single nucleotide variant | NM_001131016.2(CIZ1):c.2385C>T (p.Pro795=) | Dystonic disorder [RCV003587827] | likely benign | 9 | 128166861 | 128166861 | Human | 2 | name |
| 405248391 | CV2945612 | single nucleotide variant | NM_001131016.2(CIZ1):c.2049G>A (p.Leu683=) | Dystonic disorder [RCV003746759] | likely benign | 9 | 128169502 | 128169502 | Human | 2 | name |
| 405249597 | CV2980029 | single nucleotide variant | NM_001131016.2(CIZ1):c.1299A>G (p.Pro433=) | Dystonic disorder [RCV003747194] | likely benign | 9 | 128178908 | 128178908 | Human | 2 | name |
| 405249716 | CV2991554 | single nucleotide variant | NM_001131016.2(CIZ1):c.2464C>T (p.Leu822=) | Dystonic disorder [RCV003747245] | likely benign | 9 | 128166782 | 128166782 | Human | 2 | name |
| 405246547 | CV3016243 | single nucleotide variant | NM_001131016.2(CIZ1):c.2643G>A (p.Thr881=) | Dystonic disorder [RCV003746032] | likely benign | 9 | 128166251 | 128166251 | Human | 2 | name |
| 405247552 | CV3031140 | single nucleotide variant | NM_001131016.2(CIZ1):c.1932G>A (p.Glu644=) | CIZ1-related disorder [RCV004731564]|Dystonic disorder [RCV003746257] | likely benign | 9 | 128176362 | 128176362 | Human | 2 | name , trait , alternate_id |
| 405247419 | CV3042943 | single nucleotide variant | NM_001131016.2(CIZ1):c.2652C>T (p.Pro884=) | Dystonic disorder [RCV003746363] | likely benign | 9 | 128166242 | 128166242 | Human | 2 | name |
| 405250261 | CV3060191 | single nucleotide variant | NM_001131016.2(CIZ1):c.1696C>T (p.Leu566=) | Dystonic disorder [RCV003747451] | likely benign | 9 | 128177688 | 128177688 | Human | 2 | name |
| 405112841 | CV3133661 | single nucleotide variant | NM_001131016.2(CIZ1):c.1341G>A (p.Glu447=) | Dystonic disorder [RCV003836454] | likely benign | 9 | 128178866 | 128178866 | Human | 2 | name |
| 405186456 | CV3156395 | single nucleotide variant | NM_001131016.2(CIZ1):c.1293A>G (p.Thr431=) | Dystonic disorder [RCV003859273] | likely benign | 9 | 128178914 | 128178914 | Human | 2 | name |
| 405684116 | CV3304491 | single nucleotide variant | NM_001131016.2(CIZ1):c.157A>G (p.Met53Val) | not specified [RCV004444025] | likely benign | 9 | 128190701 | 128190701 | Human | | name |
| 407457280 | CV3416095 | single nucleotide variant | NM_001131016.2(CIZ1):c.1002C>T (p.Asp334=) | not provided [RCV004598973] | likely benign | 9 | 128179205 | 128179205 | Human | | name |
| 407456567 | CV3419215 | single nucleotide variant | NM_001131016.2(CIZ1):c.194A>T (p.Gln65Leu) | not specified [RCV004610775] | uncertain significance | 9 | 128190421 | 128190421 | Human | | name |
| 597781600 | CV3650419 | single nucleotide variant | NM_001131016.2(CIZ1):c.182C>T (p.Pro61Leu) | not specified [RCV004899795] | uncertain significance | 9 | 128190433 | 128190433 | Human | | name |
| 597975725 | CV3799317 | single nucleotide variant | NM_001131016.2(CIZ1):c.1839G>A (p.Ser613=) | Dystonic disorder [RCV005144713] | likely benign | 9 | 128176455 | 128176455 | Human | 2 | name |
| 597973944 | CV3801647 | single nucleotide variant | NM_001131016.2(CIZ1):c.2619G>A (p.Gln873=) | Dystonic disorder [RCV005143636] | likely benign | 9 | 128166275 | 128166275 | Human | 2 | name |
| 597851398 | CV3824474 | single nucleotide variant | NM_001131016.2(CIZ1):c.2577G>A (p.Leu859=) | Dystonic disorder [RCV005173513] | likely benign | 9 | 128166317 | 128166317 | Human | 2 | name |
| 597859495 | CV3832877 | single nucleotide variant | NM_001131016.2(CIZ1):c.2652C>G (p.Pro884=) | Dystonic disorder [RCV005174790] | likely benign | 9 | 128166242 | 128166242 | Human | 2 | name |
| 597940620 | CV3836734 | single nucleotide variant | NM_001131016.2(CIZ1):c.2268C>T (p.Ile756=) | Dystonic disorder [RCV005187754] | likely benign | 9 | 128169079 | 128169079 | Human | 2 | name |
| 597925332 | CV3840539 | single nucleotide variant | NM_001131016.2(CIZ1):c.2544C>T (p.Cys848=) | Dystonic disorder [RCV005185010] | likely benign | 9 | 128166350 | 128166350 | Human | 2 | name |
| 12890635 | CV396709 | single nucleotide variant | NM_001131016.2(CIZ1):c.1035G>A (p.Ala345=) | CIZ1-related disorder [RCV003915287]|Dystonic disorder [RCV000474995]|not provided [RCV001613299] | benign | 9 | 128179172 | 128179172 | Human | 2 | name , trait , alternate_id |
| 12887034 | CV396852 | single nucleotide variant | NM_001131016.2(CIZ1):c.1957A>C (p.Arg653=) | Dystonic disorder [RCV000468340]|not provided [RCV004718692] | benign | 9 | 128170094 | 128170094 | Human | 2 | name |
| 12887322 | CV397096 | single nucleotide variant | NM_001131016.2(CIZ1):c.1365A>G (p.Val455=) | Dystonic disorder [RCV000468857]|not provided [RCV003431022] | benign | 9 | 128178842 | 128178842 | Human | 2 | name |
| 12882019 | CV397099 | single nucleotide variant | NM_001131016.2(CIZ1):c.1227C>A (p.Pro409=) | CIZ1-related disorder [RCV003902668]|Dystonic disorder [RCV000458874]|not provided [RCV001653839] | benign | 9 | 128178980 | 128178980 | Human | 2 | name , trait , alternate_id |
| 13612423 | CV523992 | single nucleotide variant | NM_001131016.2(CIZ1):c.1923C>T (p.Asp641=) | Dystonic disorder [RCV001510861]|not provided [RCV004718758] | benign | 9 | 128176371 | 128176371 | Human | 2 | name |
| 14739675 | CV637720 | single nucleotide variant | NM_001131016.2(CIZ1):c.1530C>T (p.Gly510=) | Dystonic disorder [RCV000805036] | likely benign|uncertain significance | 9 | 128178459 | 128178459 | Human | 2 | name |
| 15118263 | CV684048 | single nucleotide variant | NM_001131016.2(CIZ1):c.2562C>T (p.Asn854=) | CIZ1-related disorder [RCV003975371]|Dystonic disorder [RCV000861280]|not provided [RCV001528801] | benign|likely benign | 9 | 128166332 | 128166332 | Human | 2 | name , trait , alternate_id |
| 15119103 | CV684050 | single nucleotide variant | NM_001131016.2(CIZ1):c.1197G>A (p.Pro399=) | CIZ1-related disorder [RCV003955572]|Dystonic disorder [RCV000861442] | benign|likely benign | 9 | 128179010 | 128179010 | Human | 2 | name , trait , alternate_id |
| 15098372 | CV687371 | single nucleotide variant | NM_001131016.2(CIZ1):c.1860G>A (p.Arg620=) | Dystonic disorder [RCV001438029] | likely benign | 9 | 128176434 | 128176434 | Human | 2 | name |
| 15135567 | CV687372 | single nucleotide variant | NM_001131016.2(CIZ1):c.1533C>T (p.Thr511=) | CIZ1-related disorder [RCV003965682]|Dystonic disorder [RCV001464360] | likely benign | 9 | 128178456 | 128178456 | Human | 2 | name , trait , alternate_id |
| 15111480 | CV692577 | single nucleotide variant | NM_001131016.2(CIZ1):c.2490A>G (p.Lys830=) | Dystonic disorder [RCV001501319] | likely benign | 9 | 128166404 | 128166404 | Human | 2 | name |
| 15108441 | CV783271 | single nucleotide variant | NM_001131016.2(CIZ1):c.1566G>A (p.Ser522=) | Dystonic disorder [RCV001441359] | likely benign | 9 | 128178423 | 128178423 | Human | 2 | name |
| 26915195 | CV835502 | single nucleotide variant | NM_001131016.2(CIZ1):c.1542C>T (p.Ser514=) | Dystonic disorder [RCV001041185] | uncertain significance | 9 | 128178447 | 128178447 | Human | 2 | name |
| 126751261 | CV1008353 | single nucleotide variant | NM_001131016.2(CIZ1):c.983C>T (p.Pro328Leu) | Dystonic disorder [RCV001316077] | uncertain significance | 9 | 128179224 | 128179224 | Human | 2 | name |
| 126758145 | CV1028873 | single nucleotide variant | NM_001131016.2(CIZ1):c.619G>A (p.Asp207Asn) | Dystonic disorder [RCV001339770]|not provided [RCV003490200] | uncertain significance | 9 | 128180784 | 128180784 | Human | 2 | name |
| 127259133 | CV1075985 | single nucleotide variant | NM_001131016.2(CIZ1):c.848C>T (p.Pro283Leu) | Dystonic disorder [RCV001419708]|not specified [RCV004038171] | likely benign|uncertain significance | 9 | 128179359 | 128179359 | Human | 2 | name |
| 127332562 | CV1119265 | single nucleotide variant | NM_001131016.2(CIZ1):c.835G>A (p.Val279Met) | Dystonic disorder [RCV001472282]|not specified [RCV004037122] | likely benign|uncertain significance | 9 | 128179372 | 128179372 | Human | 2 | name |
| 151820889 | CV1338325 | single nucleotide variant | NM_001131016.2(CIZ1):c.364C>T (p.Leu122Phe) | Dystonic disorder [RCV001900871] | uncertain significance | 9 | 128185771 | 128185771 | Human | 2 | name |
| 151758137 | CV1340487 | single nucleotide variant | NM_001131016.2(CIZ1):c.535C>T (p.Arg179Trp) | Dystonic disorder [RCV001913668] | uncertain significance | 9 | 128185600 | 128185600 | Human | 2 | name |
| 151784107 | CV1344662 | single nucleotide variant | NM_001131016.2(CIZ1):c.823G>C (p.Gly275Arg) | Dystonic disorder [RCV001989401] | uncertain significance | 9 | 128179384 | 128179384 | Human | 2 | name |
| 151777278 | CV1381879 | single nucleotide variant | NM_001131016.2(CIZ1):c.639G>C (p.Glu213Asp) | Dystonic disorder [RCV001950729] | uncertain significance | 9 | 128180764 | 128180764 | Human | 2 | name |
| 151773307 | CV1401279 | microsatellite | NM_001131016.2(CIZ1):c.11AGC[7] (p.Gln9dup) | Dystonic disorder [RCV002045457] | uncertain significance | 9 | 128190829 | 128190830 | Human | | name |
| 151800659 | CV1405287 | single nucleotide variant | NM_001131016.2(CIZ1):c.869C>T (p.Pro290Leu) | Dystonic disorder [RCV001899033]|not provided [RCV004693922] | uncertain significance | 9 | 128179338 | 128179338 | Human | 2 | name |
| 151711264 | CV1443821 | single nucleotide variant | NM_001131016.2(CIZ1):c.728G>A (p.Arg243His) | Dystonic disorder [RCV001908057] | uncertain significance | 9 | 128180478 | 128180478 | Human | 2 | name |
| 151892282 | CV1480781 | single nucleotide variant | NM_001131016.2(CIZ1):c.827A>G (p.Gln276Arg) | Dystonic disorder [RCV001943949] | uncertain significance | 9 | 128179380 | 128179380 | Human | 2 | name |
| 151828805 | CV1489186 | single nucleotide variant | NM_001131016.2(CIZ1):c.536G>A (p.Arg179Gln) | Dystonic disorder [RCV001934855] | uncertain significance | 9 | 128185599 | 128185599 | Human | 2 | name |
| 151819565 | CV1514053 | single nucleotide variant | NM_001131016.2(CIZ1):c.861G>A (p.Met287Ile) | Dystonic disorder [RCV001934008] | uncertain significance | 9 | 128179346 | 128179346 | Human | 2 | name |
| 151724722 | CV1515001 | single nucleotide variant | NM_001131016.2(CIZ1):c.985C>T (p.Arg329Trp) | Dystonic disorder [RCV001983540] | uncertain significance | 9 | 128179222 | 128179222 | Human | 2 | name |
| 152112426 | CV1539281 | single nucleotide variant | NM_001131016.2(CIZ1):c.715G>A (p.Ala239Thr) | Dystonic disorder [RCV002080431] | likely benign | 9 | 128180491 | 128180491 | Human | 2 | name |
| 152107612 | CV1657341 | single nucleotide variant | NM_001131016.2(CIZ1):c.929G>A (p.Arg310Gln) | CIZ1-related disorder [RCV003958582]|Dystonic disorder [RCV002215029] | benign|likely benign | 9 | 128179278 | 128179278 | Human | 2 | name , trait , alternate_id |
| 156403460 | CV1871736 | single nucleotide variant | NM_001131016.2(CIZ1):c.382G>T (p.Ala128Ser) | Dystonic disorder [RCV003052603] | uncertain significance | 9 | 128185753 | 128185753 | Human | 2 | name |
| 156449225 | CV1944486 | single nucleotide variant | NM_001131016.2(CIZ1):c.556C>T (p.Arg186Trp) | Dystonic disorder [RCV003121339] | uncertain significance | 9 | 128185579 | 128185579 | Human | 2 | name |
| 155942681 | CV2002716 | microsatellite | NM_001131016.2(CIZ1):c.11AGC[5] (p.Gln9del) | Dystonic disorder [RCV002685564] | uncertain significance | 9 | 128190830 | 128190832 | Human | | name |
| 155952062 | CV2033157 | single nucleotide variant | NM_001131016.2(CIZ1):c.394C>G (p.Leu132Val) | Dystonic disorder [RCV002730733] | uncertain significance | 9 | 128185741 | 128185741 | Human | 2 | name |
| 156039932 | CV2049673 | single nucleotide variant | NM_001131016.2(CIZ1):c.503C>T (p.Pro168Leu) | Dystonic disorder [RCV002796395] | uncertain significance | 9 | 128185632 | 128185632 | Human | 2 | name |
| 155936460 | CV2074890 | single nucleotide variant | NM_001131016.2(CIZ1):c.898C>A (p.Pro300Thr) | Dystonic disorder [RCV002861474] | uncertain significance | 9 | 128179309 | 128179309 | Human | 2 | name |
| 156140690 | CV2137836 | single nucleotide variant | NM_001131016.2(CIZ1):c.962A>G (p.Gln321Arg) | Dystonic disorder [RCV002982303] | uncertain significance | 9 | 128179245 | 128179245 | Human | 2 | name |
| 156209903 | CV2175614 | single nucleotide variant | NM_001131016.2(CIZ1):c.664C>G (p.Arg222Gly) | Dystonic disorder [RCV003024765] | uncertain significance | 9 | 128180739 | 128180739 | Human | 2 | name |
| 155912165 | CV2235529 | single nucleotide variant | NM_001131016.2(CIZ1):c.546G>C (p.Gln182His) | not specified [RCV004109563] | uncertain significance | 9 | 128185589 | 128185589 | Human | | name |
| 155910016 | CV2303507 | single nucleotide variant | NM_001131016.2(CIZ1):c.904G>A (p.Ala302Thr) | not specified [RCV004161608] | uncertain significance | 9 | 128179303 | 128179303 | Human | | name |
| 155903846 | CV2353681 | single nucleotide variant | NM_001131016.2(CIZ1):c.406A>C (p.Ser136Arg) | not specified [RCV004201698] | uncertain significance | 9 | 128185729 | 128185729 | Human | | name |
| 329352077 | CV2451990 | single nucleotide variant | NM_001131016.2(CIZ1):c.955C>A (p.Gln319Lys) | not specified [RCV004276943] | uncertain significance | 9 | 128179252 | 128179252 | Human | | name |
| 329371945 | CV2455003 | single nucleotide variant | NM_001131016.2(CIZ1):c.820C>T (p.Pro274Ser) | not specified [RCV004272265] | uncertain significance | 9 | 128179387 | 128179387 | Human | | name |
| 329356596 | CV2460431 | single nucleotide variant | NM_001131016.2(CIZ1):c.656C>T (p.Ala219Val) | not specified [RCV004268738] | uncertain significance | 9 | 128180747 | 128180747 | Human | | name |
| 329399642 | CV2470216 | single nucleotide variant | NM_001131016.2(CIZ1):c.622A>C (p.Lys208Gln) | not specified [RCV004287452] | uncertain significance | 9 | 128180781 | 128180781 | Human | | name |
| 401738384 | CV2676266 | single nucleotide variant | NM_001131016.2(CIZ1):c.941G>A (p.Arg314Gln) | not specified [RCV004286305] | uncertain significance | 9 | 128179266 | 128179266 | Human | | name |
| 401918465 | CV2826413 | single nucleotide variant | NM_001131016.2(CIZ1):c.467G>A (p.Arg156His) | not provided [RCV003430260] | uncertain significance | 9 | 128185668 | 128185668 | Human | | name |
| 404989382 | CV2849823 | single nucleotide variant | NM_001131016.2(CIZ1):c.703C>T (p.Pro235Ser) | Dystonic disorder [RCV005100315]|not provided [RCV003490565] | likely benign|uncertain significance | 9 | 128180503 | 128180503 | Human | 2 | name |
| 405164933 | CV2876463 | single nucleotide variant | NM_001131016.2(CIZ1):c.540C>G (p.Asn180Lys) | Dystonic disorder [RCV003586949] | uncertain significance | 9 | 128185595 | 128185595 | Human | 2 | name |
| 405163969 | CV2879722 | single nucleotide variant | NM_001131016.2(CIZ1):c.986G>A (p.Arg329Gln) | Dystonic disorder [RCV003586911] | uncertain significance | 9 | 128179221 | 128179221 | Human | 2 | name |
| 405164964 | CV2887707 | single nucleotide variant | NM_001131016.2(CIZ1):c.695C>T (p.Pro232Leu) | Dystonic disorder [RCV003587058] | uncertain significance | 9 | 128180511 | 128180511 | Human | 2 | name |
| 405248631 | CV2949024 | single nucleotide variant | NM_001131016.2(CIZ1):c.788G>A (p.Arg263Lys) | Dystonic disorder [RCV003746767] | uncertain significance | 9 | 128180418 | 128180418 | Human | 2 | name |
| 402511896 | CV3178419 | single nucleotide variant | NM_001131016.2(CIZ1):c.505A>G (p.Met169Val) | Dystonic disorder [RCV003879036] | uncertain significance | 9 | 128185630 | 128185630 | Human | 2 | name |
| 404982183 | CV3184167 | single nucleotide variant | NM_001131016.2(CIZ1):c.499G>A (p.Val167Ile) | Dystonic disorder [RCV003880659]|not specified [RCV004897823] | uncertain significance | 9 | 128185636 | 128185636 | Human | 2 | name |
| 405684078 | CV3304494 | single nucleotide variant | NM_001131016.2(CIZ1):c.368G>A (p.Arg123Gln) | not specified [RCV004444028] | uncertain significance | 9 | 128185767 | 128185767 | Human | | name |
| 405684084 | CV3304495 | single nucleotide variant | NM_001131016.2(CIZ1):c.641G>A (p.Gly214Glu) | not specified [RCV004444029] | uncertain significance | 9 | 128180762 | 128180762 | Human | | name |
| 405684088 | CV3304496 | single nucleotide variant | NM_001131016.2(CIZ1):c.949C>G (p.Gln317Glu) | not specified [RCV004444030] | uncertain significance | 9 | 128179258 | 128179258 | Human | | name |
| 407456564 | CV3419214 | single nucleotide variant | NM_001131016.2(CIZ1):c.935A>C (p.Gln312Pro) | not specified [RCV004610774] | uncertain significance | 9 | 128179272 | 128179272 | Human | | name |
| 597781490 | CV3650417 | single nucleotide variant | NM_001131016.2(CIZ1):c.940C>T (p.Arg314Trp) | not specified [RCV004899793] | uncertain significance | 9 | 128179267 | 128179267 | Human | | name |
| 597781611 | CV3650421 | single nucleotide variant | NM_001131016.2(CIZ1):c.466C>T (p.Arg156Cys) | not specified [RCV004899797] | uncertain significance | 9 | 128185669 | 128185669 | Human | | name |
| 597901615 | CV3779126 | single nucleotide variant | NM_001131016.2(CIZ1):c.430A>G (p.Thr144Ala) | Dystonic disorder [RCV005127203] | uncertain significance | 9 | 128185705 | 128185705 | Human | 2 | name |
| 597889503 | CV3839628 | single nucleotide variant | NM_001131016.2(CIZ1):c.805A>G (p.Thr269Ala) | Dystonic disorder [RCV005179520] | uncertain significance | 9 | 128179402 | 128179402 | Human | 2 | name |
| 598231705 | CV3948230 | single nucleotide variant | NM_001131016.2(CIZ1):c.768G>T (p.Glu256Asp) | not specified [RCV005319606] | uncertain significance | 9 | 128180438 | 128180438 | Human | | name |
| 598231711 | CV3948231 | single nucleotide variant | NM_001131016.2(CIZ1):c.418C>G (p.Pro140Ala) | not specified [RCV005319607] | uncertain significance | 9 | 128185717 | 128185717 | Human | | name |
| 598231723 | CV3948233 | single nucleotide variant | NM_001131016.2(CIZ1):c.860T>C (p.Met287Thr) | not specified [RCV005319609] | uncertain significance | 9 | 128179347 | 128179347 | Human | | name |
| 598231729 | CV3948234 | single nucleotide variant | NM_001131016.2(CIZ1):c.862A>G (p.Thr288Ala) | not specified [RCV005319610] | uncertain significance | 9 | 128179345 | 128179345 | Human | | name |
| 598231735 | CV3948235 | single nucleotide variant | NM_001131016.2(CIZ1):c.902A>G (p.Glu301Gly) | not specified [RCV005319611] | uncertain significance | 9 | 128179305 | 128179305 | Human | | name |
| 12890200 | CV396718 | single nucleotide variant | NM_001131016.2(CIZ1):c.353C>T (p.Thr118Ile) | Dystonic disorder [RCV000474174] | uncertain significance | 9 | 128187868 | 128187868 | Human | 2 | name |
| 12882866 | CV396857 | single nucleotide variant | NM_001131016.2(CIZ1):c.655G>A (p.Ala219Thr) | Dystonic disorder [RCV000460456]|not provided [RCV001653840] | benign | 9 | 128180748 | 128180748 | Human | 2 | name |
| 8604329 | CV48307 | single nucleotide variant | NM_001131016.2(CIZ1):c.790A>G (p.Ser264Gly) | Dystonic disorder [RCV001852662]|Variant of unknown significance [RCV000032913] | uncertain significance | 9 | 128180416 | 128180416 | Human | 2 | name |
| 13612401 | CV523998 | single nucleotide variant | NM_001131016.2(CIZ1):c.712A>G (p.Ile238Val) | Dystonic disorder [RCV000630717] | uncertain significance | 9 | 128180494 | 128180494 | Human | 2 | name |
| 13819881 | CV563482 | single nucleotide variant | NM_001131016.2(CIZ1):c.857G>A (p.Arg286Gln) | Dystonic disorder [RCV000694598]|not specified [RCV004025207] | uncertain significance | 9 | 128179350 | 128179350 | Human | 2 | name |
| 15140371 | CV687377 | single nucleotide variant | NM_001131016.2(CIZ1):c.655G>T (p.Ala219Ser) | Dystonic disorder [RCV001425538]|not provided [RCV004705815] | likely benign | 9 | 128180748 | 128180748 | Human | 2 | name |
| 26891579 | CV835503 | single nucleotide variant | NM_001131016.2(CIZ1):c.995C>T (p.Ser332Phe) | Dystonic disorder [RCV001068316] | uncertain significance | 9 | 128179212 | 128179212 | Human | 2 | name |
| 38468165 | CV920799 | single nucleotide variant | NM_001131016.2(CIZ1):c.379A>G (p.Met127Val) | not provided [RCV001200544] | uncertain significance | 9 | 128185756 | 128185756 | Human | | name |
| 38497682 | CV946375 | single nucleotide variant | NM_001131016.2(CIZ1):c.745C>T (p.Pro249Ser) | Dystonic disorder [RCV001227243] | uncertain significance | 9 | 128180461 | 128180461 | Human | 2 | name |
| 38457877 | CV955690 | single nucleotide variant | NM_001131016.2(CIZ1):c.770T>A (p.Leu257Gln) | Dystonic disorder [RCV001246184] | uncertain significance | 9 | 128180436 | 128180436 | Human | 2 | name |
| 126738792 | CV1008352 | single nucleotide variant | NM_001131016.2(CIZ1):c.1483G>A (p.Val495Ile) | Dystonic disorder [RCV001324970] | uncertain significance | 9 | 128178724 | 128178724 | Human | 2 | name |
| 126730278 | CV1028872 | single nucleotide variant | NM_001131016.2(CIZ1):c.1364T>C (p.Val455Ala) | Dystonic disorder [RCV001349241] | uncertain significance | 9 | 128178843 | 128178843 | Human | 2 | name |
| 126919851 | CV1045874 | single nucleotide variant | NM_001131016.2(CIZ1):c.1611G>T (p.Glu537Asp) | Dystonic disorder [RCV001373468] | uncertain significance | 9 | 128178378 | 128178378 | Human | 2 | name |
| 126923802 | CV1045875 | single nucleotide variant | NM_001131016.2(CIZ1):c.1424C>T (p.Ala475Val) | Dystonic disorder [RCV001366267] | uncertain significance | 9 | 128178783 | 128178783 | Human | 2 | name |
| 126909181 | CV1045876 | single nucleotide variant | NM_001131016.2(CIZ1):c.1394C>T (p.Pro465Leu) | Dystonic disorder [RCV001368259] | uncertain significance | 9 | 128178813 | 128178813 | Human | 2 | name |
| 126917219 | CV1045877 | single nucleotide variant | NM_001131016.2(CIZ1):c.1180C>G (p.Gln394Glu) | Dystonic disorder [RCV001371952] | uncertain significance | 9 | 128179027 | 128179027 | Human | 2 | name |
| 127251335 | CV1075983 | single nucleotide variant | NM_001131016.2(CIZ1):c.1726G>A (p.Val576Ile) | Dystonic disorder [RCV001400051] | likely benign | 9 | 128177658 | 128177658 | Human | 2 | name |
| 127241599 | CV1097674 | single nucleotide variant | NM_001131016.2(CIZ1):c.1442T>C (p.Val481Ala) | Dystonic disorder [RCV001434439] | likely benign | 9 | 128178765 | 128178765 | Human | 2 | name |
| 127333850 | CV1119264 | single nucleotide variant | NM_001131016.2(CIZ1):c.1199T>A (p.Leu400Gln) | Dystonic disorder [RCV001473167] | likely benign | 9 | 128179008 | 128179008 | Human | 2 | name |
| 127300988 | CV1156108 | single nucleotide variant | NM_001131016.2(CIZ1):c.1912G>A (p.Val638Met) | CIZ1-related disorder [RCV003980525]|Dystonic disorder [RCV001514464]|not provided [RCV001676001] | benign | 9 | 128176382 | 128176382 | Human | 2 | name , trait , alternate_id |
| 151862630 | CV1353505 | single nucleotide variant | NM_001131016.2(CIZ1):c.1074G>T (p.Gln358His) | Dystonic disorder [RCV001924196]|not specified [RCV004044255] | uncertain significance | 9 | 128179133 | 128179133 | Human | 2 | name |
| 151824437 | CV1373273 | single nucleotide variant | NM_001131016.2(CIZ1):c.1167G>C (p.Arg389Ser) | Dystonic disorder [RCV001934459] | uncertain significance | 9 | 128179040 | 128179040 | Human | 2 | name |
| 151743702 | CV1387278 | single nucleotide variant | NM_001131016.2(CIZ1):c.1081G>C (p.Val361Leu) | Dystonic disorder [RCV001985497] | uncertain significance | 9 | 128179126 | 128179126 | Human | 2 | name |
| 151874250 | CV1388136 | single nucleotide variant | NM_001131016.2(CIZ1):c.1325G>A (p.Ser442Asn) | Dystonic disorder [RCV001981695] | uncertain significance | 9 | 128178882 | 128178882 | Human | 2 | name |
| 151789592 | CV1396998 | single nucleotide variant | NM_001131016.2(CIZ1):c.2333G>A (p.Gly778Asp) | Dystonic disorder [RCV001951919] | uncertain significance | 9 | 128167127 | 128167127 | Human | 2 | name |
| 151713558 | CV1405233 | single nucleotide variant | NM_001131016.2(CIZ1):c.1997A>G (p.Asp666Gly) | Dystonic disorder [RCV001889873] | uncertain significance | 9 | 128170054 | 128170054 | Human | 2 | name |
| 151846094 | CV1405654 | single nucleotide variant | NM_001131016.2(CIZ1):c.1711C>T (p.Arg571Cys) | Dystonic disorder [RCV001903454] | uncertain significance | 9 | 128177673 | 128177673 | Human | 2 | name |
| 151878631 | CV1409902 | single nucleotide variant | NM_001131016.2(CIZ1):c.2268C>G (p.Ile756Met) | Dystonic disorder [RCV001940712]|not specified [RCV004044024] | uncertain significance | 9 | 128169079 | 128169079 | Human | 2 | name |
| 152158736 | CV1630819 | single nucleotide variant | NM_001131016.2(CIZ1):c.1075A>G (p.Lys359Glu) | Dystonic disorder [RCV002122818] | benign | 9 | 128179132 | 128179132 | Human | 2 | name |
| 152160228 | CV1642409 | single nucleotide variant | NM_001131016.2(CIZ1):c.1884C>G (p.Ser628Arg) | Dystonic disorder [RCV002103658] | likely benign | 9 | 128176410 | 128176410 | Human | 2 | name |
| 156159886 | CV1872224 | single nucleotide variant | NM_001131016.2(CIZ1):c.2342C>G (p.Thr781Ser) | Dystonic disorder [RCV003056854] | uncertain significance | 9 | 128167118 | 128167118 | Human | 2 | name |
| 156014372 | CV1876920 | single nucleotide variant | NM_001131016.2(CIZ1):c.1264C>A (p.Gln422Lys) | Dystonic disorder [RCV003077276] | uncertain significance | 9 | 128178943 | 128178943 | Human | 2 | name |
| 156409658 | CV1881476 | single nucleotide variant | NM_001131016.2(CIZ1):c.1859G>A (p.Arg620Gln) | Dystonic disorder [RCV003071761] | uncertain significance | 9 | 128176435 | 128176435 | Human | 2 | name |
| 156384299 | CV1883452 | single nucleotide variant | NM_001131016.2(CIZ1):c.1207G>A (p.Val403Met) | Dystonic disorder [RCV003093548]|not provided [RCV003434565]|not specified [RCV004071870] | likely benign|uncertain significance | 9 | 128179000 | 128179000 | Human | 2 | name |
| 156317611 | CV1903886 | single nucleotide variant | NM_001131016.2(CIZ1):c.2648G>A (p.Arg883Gln) | Dystonic disorder [RCV003088812]|not specified [RCV004897789] | likely benign|uncertain significance | 9 | 128166246 | 128166246 | Human | 2 | name |
| 156133289 | CV1914315 | single nucleotide variant | NM_001131016.2(CIZ1):c.1919G>A (p.Arg640Gln) | Dystonic disorder [RCV002623389]|not specified [RCV004069107] | uncertain significance | 9 | 128176375 | 128176375 | Human | 2 | name |
| 156299745 | CV1919890 | single nucleotide variant | NM_001131016.2(CIZ1):c.2251G>A (p.Glu751Lys) | Dystonic disorder [RCV002599110] | uncertain significance | 9 | 128169096 | 128169096 | Human | 2 | name |
| 156052333 | CV1923969 | single nucleotide variant | NM_001131016.2(CIZ1):c.1865G>A (p.Gly622Glu) | Dystonic disorder [RCV002637982] | uncertain significance | 9 | 128176429 | 128176429 | Human | 2 | name |
| 156158835 | CV1928434 | single nucleotide variant | NM_001131016.2(CIZ1):c.2336C>T (p.Ser779Leu) | Dystonic disorder [RCV002664167]|not specified [RCV004072126] | uncertain significance | 9 | 128167124 | 128167124 | Human | 2 | name |
| 156306411 | CV1931401 | single nucleotide variant | NM_001131016.2(CIZ1):c.2626A>G (p.Thr876Ala) | Dystonic disorder [RCV002647912] | uncertain significance | 9 | 128166268 | 128166268 | Human | 2 | name |
| 156419428 | CV1932868 | single nucleotide variant | NM_001131016.2(CIZ1):c.2033T>C (p.Ile678Thr) | Dystonic disorder [RCV002612661]|not specified [RCV004070711] | uncertain significance | 9 | 128169518 | 128169518 | Human | 2 | name |
| 156071882 | CV1959338 | single nucleotide variant | NM_001131016.2(CIZ1):c.1176G>C (p.Gln392His) | Dystonic disorder [RCV002569628] | uncertain significance | 9 | 128179031 | 128179031 | Human | 2 | name |
| 156120042 | CV1982706 | single nucleotide variant | NM_001131016.2(CIZ1):c.1118A>C (p.Lys373Thr) | Dystonic disorder [RCV002622909] | uncertain significance | 9 | 128179089 | 128179089 | Human | 2 | name |
| 156405031 | CV1994172 | single nucleotide variant | NM_001131016.2(CIZ1):c.2246A>T (p.Asp749Val) | Dystonic disorder [RCV002658201] | uncertain significance | 9 | 128169101 | 128169101 | Human | 2 | name |
| 155962581 | CV2036777 | single nucleotide variant | NM_001131016.2(CIZ1):c.1406C>T (p.Pro469Leu) | Dystonic disorder [RCV002776340]|not specified [RCV004064760] | uncertain significance | 9 | 128178801 | 128178801 | Human | 2 | name |
| 156000901 | CV2057422 | single nucleotide variant | NM_001131016.2(CIZ1):c.2322G>C (p.Glu774Asp) | Dystonic disorder [RCV002819643]|not specified [RCV004064894] | uncertain significance | 9 | 128167138 | 128167138 | Human | 2 | name |
| 155938645 | CV2071704 | single nucleotide variant | NM_001131016.2(CIZ1):c.1588G>A (p.Glu530Lys) | Dystonic disorder [RCV002839259] | uncertain significance | 9 | 128178401 | 128178401 | Human | 2 | name |
| 156333080 | CV2091102 | single nucleotide variant | NM_001131016.2(CIZ1):c.1250G>T (p.Arg417Met) | Dystonic disorder [RCV002900047] | likely benign | 9 | 128178957 | 128178957 | Human | 2 | name |
| 156051110 | CV2093511 | single nucleotide variant | NM_001131016.2(CIZ1):c.1283A>G (p.Gln428Arg) | Dystonic disorder [RCV002867786]|not specified [RCV004065944] | uncertain significance | 9 | 128178924 | 128178924 | Human | 2 | name |
| 156057511 | CV2102124 | single nucleotide variant | NM_001131016.2(CIZ1):c.1586G>A (p.Gly529Glu) | Dystonic disorder [RCV002886381] | uncertain significance | 9 | 128178403 | 128178403 | Human | 2 | name |
| 155939345 | CV2119708 | single nucleotide variant | NM_001131016.2(CIZ1):c.2269G>A (p.Glu757Lys) | Dystonic disorder [RCV002971174] | uncertain significance | 9 | 128169078 | 128169078 | Human | 2 | name |
| 156107654 | CV2120982 | single nucleotide variant | NM_001131016.2(CIZ1):c.1934C>G (p.Thr645Arg) | Dystonic disorder [RCV002952978]|not specified [RCV004067275] | likely benign|uncertain significance | 9 | 128176360 | 128176360 | Human | 2 | name |
| 156226376 | CV2121827 | single nucleotide variant | NM_001131016.2(CIZ1):c.2314T>C (p.Ser772Pro) | Dystonic disorder [RCV002958341]|not specified [RCV004068054] | uncertain significance | 9 | 128167146 | 128167146 | Human | 2 | name |
| 156388047 | CV2122171 | single nucleotide variant | NM_001131016.2(CIZ1):c.1633G>A (p.Gly545Arg) | Dystonic disorder [RCV002943641] | uncertain significance | 9 | 128177751 | 128177751 | Human | 2 | name |
| 156341560 | CV2127547 | single nucleotide variant | NM_001131016.2(CIZ1):c.1567G>T (p.Ala523Ser) | Dystonic disorder [RCV002938927] | uncertain significance | 9 | 128178422 | 128178422 | Human | 2 | name |
| 156365345 | CV2130578 | single nucleotide variant | NM_001131016.2(CIZ1):c.1441G>T (p.Val481Phe) | Dystonic disorder [RCV002967261] | uncertain significance | 9 | 128178766 | 128178766 | Human | 2 | name |
| 155930758 | CV2220909 | single nucleotide variant | NM_001131016.2(CIZ1):c.1122G>C (p.Gln374His) | not specified [RCV004092612] | uncertain significance | 9 | 128179085 | 128179085 | Human | | name |
| 155975535 | CV2235891 | single nucleotide variant | NM_001131016.2(CIZ1):c.1750A>T (p.Ser584Cys) | not specified [RCV004112000] | uncertain significance | 9 | 128177634 | 128177634 | Human | | name |
| 156026277 | CV2242336 | single nucleotide variant | NM_001131016.2(CIZ1):c.2681C>T (p.Thr894Ile) | not specified [RCV004111347] | uncertain significance | 9 | 128166213 | 128166213 | Human | | name |
| 156295696 | CV2310329 | single nucleotide variant | NM_001131016.2(CIZ1):c.2498C>G (p.Ala833Gly) | Dystonic disorder [RCV003586382]|not specified [RCV004163380] | uncertain significance | 9 | 128166396 | 128166396 | Human | 2 | name |
| 155961326 | CV2311895 | single nucleotide variant | NM_001131016.2(CIZ1):c.2225G>A (p.Gly742Asp) | Dystonic disorder [RCV003746654]|not specified [RCV004170727] | uncertain significance | 9 | 128169122 | 128169122 | Human | 2 | name |
| 156054317 | CV2320453 | single nucleotide variant | NM_001131016.2(CIZ1):c.2209G>A (p.Val737Met) | not specified [RCV004172094] | uncertain significance | 9 | 128169138 | 128169138 | Human | | name |
| 156159915 | CV2322783 | single nucleotide variant | NM_001131016.2(CIZ1):c.1691T>C (p.Val564Ala) | not specified [RCV004182887] | uncertain significance | 9 | 128177693 | 128177693 | Human | | name |
| 156112674 | CV2353455 | single nucleotide variant | NM_001131016.2(CIZ1):c.2386G>A (p.Val796Met) | not specified [RCV004205910] | uncertain significance | 9 | 128166860 | 128166860 | Human | | name |
| 156153254 | CV2394948 | single nucleotide variant | NM_001131016.2(CIZ1):c.1392G>T (p.Gln464His) | Dystonic disorder [RCV003586384]|not specified [RCV004234596] | uncertain significance | 9 | 128178815 | 128178815 | Human | 2 | name |
| 11349813 | CV240466 | single nucleotide variant | NM_001131016.2(CIZ1):c.1170G>T (p.Gln390His) | CIZ1-related disorder [RCV003929983]|Dystonic disorder [RCV000232078]|not provided [RCV001529501] | benign|likely benign | 9 | 128179037 | 128179037 | Human | 2 | name , trait , alternate_id |
| 329380942 | CV2464402 | single nucleotide variant | NM_001131016.2(CIZ1):c.1675C>T (p.Arg559Trp) | not specified [RCV004276336] | uncertain significance | 9 | 128177709 | 128177709 | Human | | name |
| 401761639 | CV2713831 | single nucleotide variant | NM_001131016.2(CIZ1):c.2407A>G (p.Ile803Val) | not specified [RCV004315277] | likely benign | 9 | 128166839 | 128166839 | Human | | name |
| 401860060 | CV2768465 | single nucleotide variant | NM_001131016.2(CIZ1):c.2505G>T (p.Lys835Asn) | not specified [RCV004344351] | uncertain significance | 9 | 128166389 | 128166389 | Human | | name |
| 401947060 | CV2832193 | single nucleotide variant | NM_001131016.2(CIZ1):c.2023G>C (p.Asp675His) | Dystonia 23 [RCV003447718] | uncertain significance | 9 | 128170028 | 128170028 | Human | 1 | name |
| 405157687 | CV2857239 | single nucleotide variant | NM_001131016.2(CIZ1):c.1129C>T (p.Pro377Ser) | Dystonic disorder [RCV003586446] | uncertain significance | 9 | 128179078 | 128179078 | Human | 2 | name |
| 405163402 | CV2872754 | single nucleotide variant | NM_001131016.2(CIZ1):c.1228C>G (p.Gln410Glu) | Dystonic disorder [RCV003586923] | uncertain significance | 9 | 128178979 | 128178979 | Human | 2 | name |
| 405165107 | CV2873029 | single nucleotide variant | NM_001131016.2(CIZ1):c.1712G>A (p.Arg571His) | Dystonic disorder [RCV003586961] | uncertain significance | 9 | 128177672 | 128177672 | Human | 2 | name |
| 405163908 | CV2873302 | single nucleotide variant | NM_001131016.2(CIZ1):c.2017A>T (p.Thr673Ser) | Dystonic disorder [RCV003586966] | uncertain significance | 9 | 128170034 | 128170034 | Human | 2 | name |
| 405163728 | CV2876558 | single nucleotide variant | NM_001131016.2(CIZ1):c.2563G>T (p.Ala855Ser) | Dystonic disorder [RCV003586951] | uncertain significance | 9 | 128166331 | 128166331 | Human | 2 | name |
| 405167037 | CV2886334 | single nucleotide variant | NM_001131016.2(CIZ1):c.1444G>T (p.Val482Leu) | Dystonic disorder [RCV003587246] | uncertain significance | 9 | 128178763 | 128178763 | Human | 2 | name |
| 405173340 | CV2917637 | single nucleotide variant | NM_001131016.2(CIZ1):c.2674C>T (p.Arg892Cys) | Dystonic disorder [RCV003587839] | uncertain significance | 9 | 128166220 | 128166220 | Human | 2 | name |
| 405173621 | CV2921602 | single nucleotide variant | NM_001131016.2(CIZ1):c.2642C>T (p.Thr881Met) | Dystonic disorder [RCV003587866] | uncertain significance | 9 | 128166252 | 128166252 | Human | 2 | name |
| 405248774 | CV2960388 | single nucleotide variant | NM_001131016.2(CIZ1):c.1224G>T (p.Gln408His) | Dystonic disorder [RCV003746806] | uncertain significance | 9 | 128178983 | 128178983 | Human | 2 | name |
| 405249305 | CV2980800 | single nucleotide variant | NM_001131016.2(CIZ1):c.1735A>G (p.Thr579Ala) | Dystonic disorder [RCV003747055]|not specified [RCV004614484] | uncertain significance | 9 | 128177649 | 128177649 | Human | 2 | name |
| 405249829 | CV2996180 | single nucleotide variant | NM_001131016.2(CIZ1):c.2392G>A (p.Gly798Ser) | Dystonic disorder [RCV003747291] | uncertain significance | 9 | 128166854 | 128166854 | Human | 2 | name |
| 405250159 | CV3005733 | single nucleotide variant | NM_001131016.2(CIZ1):c.1142C>T (p.Pro381Leu) | Dystonic disorder [RCV003747431] | uncertain significance | 9 | 128179065 | 128179065 | Human | 2 | name |
| 405246507 | CV3009731 | single nucleotide variant | NM_001131016.2(CIZ1):c.1751G>C (p.Ser584Thr) | Dystonic disorder [RCV003746019] | uncertain significance | 9 | 128177633 | 128177633 | Human | 2 | name |
| 405246971 | CV3022649 | single nucleotide variant | NM_001131016.2(CIZ1):c.1255G>A (p.Val419Met) | Dystonic disorder [RCV003746184] | uncertain significance | 9 | 128178952 | 128178952 | Human | 2 | name |
| 405247479 | CV3043582 | single nucleotide variant | NM_001131016.2(CIZ1):c.1708C>T (p.Pro570Ser) | Dystonic disorder [RCV003746386] | uncertain significance | 9 | 128177676 | 128177676 | Human | 2 | name |
| 405247653 | CV3055075 | single nucleotide variant | NM_001131016.2(CIZ1):c.1438C>T (p.Pro480Ser) | Dystonic disorder [RCV003746454] | uncertain significance | 9 | 128178769 | 128178769 | Human | 2 | name |
| 405250414 | CV3059082 | single nucleotide variant | NM_001131016.2(CIZ1):c.1348C>T (p.Pro450Ser) | Dystonic disorder [RCV003747517] | uncertain significance | 9 | 128178859 | 128178859 | Human | 2 | name |
| 405250504 | CV3075357 | single nucleotide variant | NM_001131016.2(CIZ1):c.1961G>A (p.Arg654His) | Dystonic disorder [RCV003747557] | uncertain significance | 9 | 128170090 | 128170090 | Human | 2 | name |
| 405251083 | CV3076928 | single nucleotide variant | NM_001131016.2(CIZ1):c.2687T>C (p.Leu896Pro) | Dystonic disorder [RCV003747626] | uncertain significance | 9 | 128166207 | 128166207 | Human | 2 | name |
| 405186447 | CV3156394 | single nucleotide variant | NM_001131016.2(CIZ1):c.1436C>T (p.Thr479Ile) | Dystonic disorder [RCV003859272] | uncertain significance | 9 | 128178771 | 128178771 | Human | 2 | name |
| 402505227 | CV3181539 | single nucleotide variant | NM_001131016.2(CIZ1):c.1063G>A (p.Val355Met) | Dystonic disorder [RCV003878373] | uncertain significance | 9 | 128179144 | 128179144 | Human | 2 | name |
| 405684217 | CV3304490 | single nucleotide variant | NM_001131016.2(CIZ1):c.1034C>T (p.Ala345Val) | Dystonic disorder [RCV005104606]|not specified [RCV004444024] | uncertain significance | 9 | 128179173 | 128179173 | Human | 2 | name |
| 405684075 | CV3304493 | single nucleotide variant | NM_001131016.2(CIZ1):c.2563G>A (p.Ala855Thr) | not specified [RCV004444027] | uncertain significance | 9 | 128166331 | 128166331 | Human | | name |
| 596947940 | CV3547531 | single nucleotide variant | NM_001131016.2(CIZ1):c.1196C>T (p.Pro399Leu) | Dystonic disorder [RCV005105227]|not provided [RCV004811835] | likely benign|uncertain significance | 9 | 128179011 | 128179011 | Human | 2 | name |
| 597781596 | CV3650418 | single nucleotide variant | NM_001131016.2(CIZ1):c.2221G>A (p.Glu741Lys) | not specified [RCV004899794] | uncertain significance | 9 | 128169126 | 128169126 | Human | | name |
| 597781615 | CV3650422 | single nucleotide variant | NM_001131016.2(CIZ1):c.2570C>A (p.Thr857Lys) | not specified [RCV004899798] | uncertain significance | 9 | 128166324 | 128166324 | Human | | name |
| 597781618 | CV3650423 | single nucleotide variant | NM_001131016.2(CIZ1):c.1236T>G (p.His412Gln) | not specified [RCV004899799] | uncertain significance | 9 | 128178971 | 128178971 | Human | | name |
| 597781622 | CV3650424 | single nucleotide variant | NM_001131016.2(CIZ1):c.2396A>G (p.Tyr799Cys) | not specified [RCV004899800] | uncertain significance | 9 | 128166850 | 128166850 | Human | | name |
| 597955881 | CV3754495 | single nucleotide variant | NM_001131016.2(CIZ1):c.1574G>C (p.Gly525Ala) | Dystonic disorder [RCV005080345]|not specified [RCV005323718] | uncertain significance | 9 | 128178415 | 128178415 | Human | 2 | name |
| 597913507 | CV3770997 | single nucleotide variant | NM_001131016.2(CIZ1):c.1409A>C (p.Gln470Pro) | Dystonic disorder [RCV005114116] | benign | 9 | 128178798 | 128178798 | Human | 2 | name |
| 597953892 | CV3786563 | single nucleotide variant | NM_001131016.2(CIZ1):c.1709C>A (p.Pro570His) | Dystonic disorder [RCV005121654] | uncertain significance | 9 | 128177675 | 128177675 | Human | 2 | name |
| 597888113 | CV3804426 | single nucleotide variant | NM_001131016.2(CIZ1):c.2255A>G (p.Asp752Gly) | Dystonic disorder [RCV005150877] | uncertain significance | 9 | 128169092 | 128169092 | Human | 2 | name |
| 597956470 | CV3817978 | single nucleotide variant | NM_001131016.2(CIZ1):c.2400C>G (p.Ile800Met) | Dystonic disorder [RCV005162429] | uncertain significance | 9 | 128166846 | 128166846 | Human | 2 | name |
| 597871738 | CV3835746 | single nucleotide variant | NM_001131016.2(CIZ1):c.2333G>C (p.Gly778Ala) | Dystonic disorder [RCV005176737] | uncertain significance | 9 | 128167127 | 128167127 | Human | 2 | name |
| 597963301 | CV3841483 | single nucleotide variant | NM_001131016.2(CIZ1):c.2281G>A (p.Glu761Lys) | Dystonic disorder [RCV005193587] | uncertain significance | 9 | 128169066 | 128169066 | Human | 2 | name |
| 597886259 | CV3842312 | single nucleotide variant | NM_001131016.2(CIZ1):c.2605C>G (p.Gln869Glu) | Dystonic disorder [RCV005178947] | uncertain significance | 9 | 128166289 | 128166289 | Human | 2 | name |
| 598264516 | CV3948229 | single nucleotide variant | NM_001131016.2(CIZ1):c.1559A>T (p.Asn520Ile) | not specified [RCV005326148] | uncertain significance | 9 | 128178430 | 128178430 | Human | | name |
| 598231717 | CV3948232 | single nucleotide variant | NM_001131016.2(CIZ1):c.2212G>C (p.Gly738Arg) | not specified [RCV005319608] | uncertain significance | 9 | 128169135 | 128169135 | Human | | name |
| 12883184 | CV396428 | single nucleotide variant | NM_001131016.2(CIZ1):c.1918C>T (p.Arg640Trp) | Dystonic disorder [RCV000461114] | uncertain significance | 9 | 128176376 | 128176376 | Human | 2 | name |
| 12890641 | CV396431 | single nucleotide variant | NM_001131016.2(CIZ1):c.1733C>T (p.Ser578Phe) | Dystonic disorder [RCV000475007]|not provided [RCV001537019] | benign | 9 | 128177651 | 128177651 | Human | 2 | name |
| 12883694 | CV397094 | single nucleotide variant | NM_001131016.2(CIZ1):c.2540G>A (p.Arg847Gln) | Dystonic disorder [RCV000462075]|not provided [RCV004718694] | benign | 9 | 128166354 | 128166354 | Human | 2 | name |
| 13472173 | CV458291 | single nucleotide variant | NM_001131016.2(CIZ1):c.1352C>T (p.Ala451Val) | Dystonic disorder [RCV000524791] | benign | 9 | 128178855 | 128178855 | Human | 2 | name |
| 13480258 | CV459309 | single nucleotide variant | NM_001131016.2(CIZ1):c.1109A>G (p.Glu370Gly) | Dystonic disorder [RCV000550892]|not provided [RCV004718703] | benign | 9 | 128179098 | 128179098 | Human | 2 | name |
| 13820141 | CV562779 | single nucleotide variant | NM_001131016.2(CIZ1):c.2065G>A (p.Val689Ile) | Dystonic disorder [RCV000694758]|not specified [RCV004025216] | likely benign|uncertain significance | 9 | 128169486 | 128169486 | Human | 2 | name |
| 13813837 | CV565531 | single nucleotide variant | NM_001131016.2(CIZ1):c.1730C>T (p.Ser577Phe) | Dystonic disorder [RCV000704623] | uncertain significance | 9 | 128177654 | 128177654 | Human | 2 | name |
| 13805152 | CV568510 | single nucleotide variant | NM_001131016.2(CIZ1):c.1277A>C (p.Gln426Pro) | Dystonic disorder [RCV000685572]|not specified [RCV004026202] | uncertain significance | 9 | 128178930 | 128178930 | Human | 2 | name |
| 14742897 | CV637717 | single nucleotide variant | NM_001131016.2(CIZ1):c.2594G>A (p.Arg865His) | Dystonic disorder [RCV000823087]|not specified [RCV004029125] | uncertain significance | 9 | 128166300 | 128166300 | Human | 2 | name |
| 14715662 | CV637718 | single nucleotide variant | NM_001131016.2(CIZ1):c.1924G>A (p.Val642Ile) | Dystonic disorder [RCV000794866] | uncertain significance | 9 | 128176370 | 128176370 | Human | 2 | name |
| 14743880 | CV637719 | single nucleotide variant | NM_001131016.2(CIZ1):c.1879A>G (p.Met627Val) | Dystonic disorder [RCV000823727] | uncertain significance | 9 | 128176415 | 128176415 | Human | 2 | name |
| 14738185 | CV637721 | single nucleotide variant | NM_001131016.2(CIZ1):c.1433A>T (p.Gln478Leu) | Dystonic disorder [RCV000820817] | uncertain significance | 9 | 128178774 | 128178774 | Human | 2 | name |
| 14726655 | CV637722 | single nucleotide variant | NM_001131016.2(CIZ1):c.1415C>T (p.Ser472Leu) | Dystonic disorder [RCV000799297] | uncertain significance | 9 | 128178792 | 128178792 | Human | 2 | name |
| 14732967 | CV637723 | single nucleotide variant | NM_001131016.2(CIZ1):c.1327G>A (p.Val443Ile) | Dystonic disorder [RCV000802090] | uncertain significance | 9 | 128178880 | 128178880 | Human | 2 | name |
| 15126477 | CV684049 | single nucleotide variant | NM_001131016.2(CIZ1):c.1199T>C (p.Leu400Pro) | Dystonic disorder [RCV000862759] | benign | 9 | 128179008 | 128179008 | Human | 2 | name |
| 26897359 | CV835500 | single nucleotide variant | NM_001131016.2(CIZ1):c.1930G>A (p.Glu644Lys) | Dystonic disorder [RCV001070264] | uncertain significance | 9 | 128176364 | 128176364 | Human | 2 | name |
| 26907226 | CV835501 | single nucleotide variant | NM_001131016.2(CIZ1):c.1742C>T (p.Ala581Val) | Dystonic disorder [RCV001037857] | uncertain significance | 9 | 128177642 | 128177642 | Human | 2 | name |
| 38485514 | CV925384 | single nucleotide variant | NM_001131016.2(CIZ1):c.2573C>T (p.Ala858Val) | Dystonic disorder [RCV001219892] | uncertain significance | 9 | 128166321 | 128166321 | Human | 2 | name |
| 38476470 | CV934548 | single nucleotide variant | NM_001131016.2(CIZ1):c.2636A>G (p.Lys879Arg) | Dystonic disorder [RCV001204671] | uncertain significance | 9 | 128166258 | 128166258 | Human | 2 | name |
| 156306226 | CV1931383 | deletion | NM_001131016.2(CIZ1):c.87_101del (p.21QQQQL[2]) | Dystonic disorder [RCV002647902] | uncertain significance | 9 | 128190757 | 128190771 | Human | 2 | name |
| 597950770 | CV3847045 | microsatellite | NM_001131016.2(CIZ1):c.2232AGA[1] (p.Glu748del) | Dystonic disorder [RCV005190217] | uncertain significance | 9 | 128169110 | 128169112 | Human | | name |
| 14741334 | CV637725 | deletion | NM_001131016.2(CIZ1):c.36_56del (p.6QQQQLQQ[1]) | Dystonic disorder [RCV000805738] | uncertain significance | 9 | 128190802 | 128190822 | Human | 2 | name |
| 405164531 | CV2884237 | deletion | NM_001131016.2(CIZ1):c.23_49del (p.Gln8_Gln16del) | Dystonic disorder [RCV003587019] | uncertain significance | 9 | 128190809 | 128190835 | Human | 2 | name |
| 13494968 | CV458817 | deletion | NM_001131016.2(CIZ1):c.26_49del (p.Gln9_Gln16del) | Dystonic disorder [RCV000536794]|not provided [RCV003488658] | uncertain significance | 9 | 128190809 | 128190832 | Human | 2 | name |
| 38459637 | CV934549 | deletion | NM_001131016.2(CIZ1):c.1631_1633del (p.Ala544del) | Dystonic disorder [RCV001211677] | uncertain significance | 9 | 128177751 | 128177753 | Human | 2 | name |
| 151874888 | CV1466668 | duplication | NM_001131016.2(CIZ1):c.36_80dup (p.Gln15_Gln29dup) | Dystonic disorder [RCV001885734] | uncertain significance | 9 | 128190777 | 128190778 | Human | 2 | name |
| 405250356 | CV3061417 | deletion | NM_001131016.2(CIZ1):c.678_680delAGA (p.Glu227del) | Dystonic disorder [RCV003747491] | uncertain significance | 9 | 128180721 | 128180723 | Human | 2 | name |
| 405084074 | CV3121924 | deletion | NM_001131016.2(CIZ1):c.27_86del (p.Gln15_Gln34del) | Dystonic disorder [RCV003810679] | uncertain significance | 9 | 128190772 | 128190831 | Human | 2 | name |
| 404985223 | CV3183746 | deletion | NM_001131016.2(CIZ1):c.1220_1231del (p.403VQPQ[1]) | Dystonic disorder [RCV003881023] | uncertain significance | 9 | 128178976 | 128178987 | Human | 2 | name |
| 13482034 | CV459320 | duplication | NM_001131016.2(CIZ1):c.58_81dup (p.Leu20_Gln27dup) | Dystonic disorder [RCV000551687] | uncertain significance | 9 | 128190776 | 128190777 | Human | 2 | name |
| 13815214 | CV562784 | deletion | NM_001131016.2(CIZ1):c.58_81del (p.Leu20_Gln27del) | Dystonic disorder [RCV000705560] | uncertain significance | 9 | 128190777 | 128190800 | Human | 2 | name |
| 38483719 | CV925385 | duplication | NM_001131016.2(CIZ1):c.74_94dup (p.Leu25_Gln31dup) | Dystonic disorder [RCV001219074] | uncertain significance | 9 | 128190763 | 128190764 | Human | 2 | name |
| 14733958 | CV637724 | deletion | NM_001131016.2(CIZ1):c.1093_1134del (p.Leu365_Gln378del) | Dystonic disorder [RCV000802511] | uncertain significance | 9 | 128179073 | 128179114 | Human | 2 | name |
| 126755780 | CV993152 | insertion | NM_001131016.2(CIZ1):c.35_36insGTT (p.Gln12_Gln13insLeu) | Dystonic disorder [RCV001307941] | uncertain significance | 9 | 128190822 | 128190823 | Human | 2 | name |
| 151842571 | CV1408635 | microsatellite | NM_001131016.2(CIZ1):c.1172TGCAGC[3] (p.Leu393_Gln394dup) | Dystonic disorder [RCV002015515] | uncertain significance | 9 | 128179023 | 128179024 | Human | | name |
| 156033127 | CV2097574 | insertion | NM_001131016.2(CIZ1):c.1257_1258insGAGCTG (p.Val419_Gln420insGluLeu) | Dystonic disorder [RCV002885488] | uncertain significance | 9 | 128178949 | 128178950 | Human | 2 | name |
| 597900245 | CV3782995 | duplication | NM_001131016.2(CIZ1):c.1192_1263dup (p.Leu421_Gln422insGluProLeuLysGlnValGlnProGlnValGlnProGlnAlaHisSerGlnProProArgGlnValGlnLeu) | Dystonic disorder [RCV005127015] | uncertain significance | 9 | 128178943 | 128178944 | Human | 2 | name |
