| 8579268 | CV113666 | single nucleotide variant | NM_001102653.1(OTUD4):c.146+278A>G | Lung cancer [RCV000094189] | uncertain significance | 4 | 145164873 | 145164873 | Human | | name |
| 405274543 | CV3208920 | deletion | NM_001366057.1(OTUD4):c.809-7_809-6del | OTUD4-related disorder [RCV003951702] | likely benign | 4 | 145155481 | 145155482 | Human | | name , trait , alternate_id |
| 405277459 | CV3195789 | single nucleotide variant | NM_001366057.1(OTUD4):c.81C>T (p.Ala27=) | OTUD4-related disorder [RCV003904321] | likely benign | 4 | 145179893 | 145179893 | Human | | name , trait , alternate_id |
| 401928537 | CV2820195 | single nucleotide variant | NM_001366057.1(OTUD4):c.456G>A (p.Val152=) | OTUD4-related disorder [RCV003980925]|not provided [RCV003439506] | benign|likely benign | 4 | 145162680 | 145162680 | Human | | name , trait , alternate_id |
| 401923523 | CV2820194 | single nucleotide variant | NM_001366057.1(OTUD4):c.2649C>G (p.Pro883=) | not provided [RCV003435174] | likely benign | 4 | 145138126 | 145138126 | Human | | name |
| 598184187 | CV3995672 | single nucleotide variant | NM_001366057.1(OTUD4):c.290C>A (p.Pro97Gln) | not specified [RCV005395414] | uncertain significance | 4 | 145171674 | 145171674 | Human | | name |
| 10403889 | CV207107 | single nucleotide variant | NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=) | not provided [RCV000950127]|not specified [RCV000193649] | benign|likely benign|uncertain significance | 4 | 145137772 | 145137772 | Human | | name |
| 156052228 | CV2238185 | single nucleotide variant | NM_001366057.1(OTUD4):c.545G>A (p.Ser182Asn) | not specified [RCV004111182] | uncertain significance | 4 | 145159587 | 145159587 | Human | | name |
| 156127247 | CV2283775 | single nucleotide variant | NM_001366057.1(OTUD4):c.832A>G (p.Ile278Val) | not specified [RCV004142295] | uncertain significance | 4 | 145155452 | 145155452 | Human | | name |
| 156254796 | CV2397583 | single nucleotide variant | NM_001366057.1(OTUD4):c.853G>A (p.Glu285Lys) | not specified [RCV004237043] | uncertain significance | 4 | 145155431 | 145155431 | Human | | name |
| 401779879 | CV2725752 | single nucleotide variant | NM_001366057.1(OTUD4):c.710A>G (p.Asn237Ser) | not specified [RCV004322441] | uncertain significance | 4 | 145155667 | 145155667 | Human | | name |
| 401928535 | CV2820193 | single nucleotide variant | NM_001366057.1(OTUD4):c.3030C>T (p.Asn1010=) | not provided [RCV003439505] | likely benign | 4 | 145137745 | 145137745 | Human | | name |
| 405278381 | CV3221911 | single nucleotide variant | NM_001366057.1(OTUD4):c.646G>A (p.Ala216Thr) | OTUD4-related disorder [RCV003976460] | benign | 4 | 145155980 | 145155980 | Human | | name , trait , alternate_id |
| 405785625 | CV3374534 | single nucleotide variant | NM_001366057.1(OTUD4):c.556A>G (p.Met186Val) | not specified [RCV004504747] | uncertain significance | 4 | 145159576 | 145159576 | Human | | name |
| 405785630 | CV3374535 | single nucleotide variant | NM_001366057.1(OTUD4):c.767A>G (p.Tyr256Cys) | not specified [RCV004504748] | uncertain significance | 4 | 145155610 | 145155610 | Human | | name |
| 405785635 | CV3374536 | single nucleotide variant | NM_001366057.1(OTUD4):c.881T>G (p.Leu294Trp) | not specified [RCV004504749] | uncertain significance | 4 | 145152628 | 145152628 | Human | | name |
| 405785640 | CV3374537 | single nucleotide variant | NM_001366057.1(OTUD4):c.985C>T (p.Leu329Phe) | not specified [RCV004504750] | uncertain significance | 4 | 145150889 | 145150889 | Human | | name |
| 407470038 | CV3459789 | single nucleotide variant | NM_001366057.1(OTUD4):c.470A>G (p.Tyr157Cys) | not specified [RCV004661926] | uncertain significance | 4 | 145162666 | 145162666 | Human | | name |
| 407470049 | CV3459796 | single nucleotide variant | NM_001366057.1(OTUD4):c.569C>T (p.Thr190Met) | not specified [RCV004661929] | uncertain significance | 4 | 145159563 | 145159563 | Human | | name |
| 597736663 | CV3567921 | single nucleotide variant | NM_001366057.1(OTUD4):c.656A>C (p.Asp219Ala) | not specified [RCV004843753] | uncertain significance | 4 | 145155970 | 145155970 | Human | | name |
| 597656201 | CV3567923 | single nucleotide variant | NM_001366057.1(OTUD4):c.541G>A (p.Val181Ile) | not specified [RCV004827488] | uncertain significance | 4 | 145159591 | 145159591 | Human | | name |
| 598222358 | CV3893869 | single nucleotide variant | NM_001366057.1(OTUD4):c.463A>G (p.Ile155Val) | not provided [RCV005257112] | uncertain significance | 4 | 145162673 | 145162673 | Human | | name |
| 598162521 | CV3995670 | single nucleotide variant | NM_001366057.1(OTUD4):c.377C>T (p.Ser126Phe) | not specified [RCV005390829] | uncertain significance | 4 | 145164191 | 145164191 | Human | | name |
| 13485417 | CV446883 | single nucleotide variant | NM_001366057.1(OTUD4):c.821G>A (p.Arg274His) | not specified [RCV000530760] | uncertain significance | 4 | 145155463 | 145155463 | Human | | name |
| 13503555 | CV446884 | single nucleotide variant | NM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly) | not provided [RCV004691833]|not specified [RCV000543230] | uncertain significance | 4 | 145159551 | 145159551 | Human | | name |
| 151733232 | CV1336517 | single nucleotide variant | NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg) | Amenorrhea [RCV001849746]|not provided [RCV004693781] | uncertain significance | 4 | 145137782 | 145137782 | Human | 2 | name |
| 156398987 | CV2194910 | single nucleotide variant | NM_001366057.1(OTUD4):c.2140A>G (p.Met714Val) | not specified [RCV004075440] | uncertain significance | 4 | 145138635 | 145138635 | Human | | name |
| 156240328 | CV2213604 | single nucleotide variant | NM_001366057.1(OTUD4):c.1757C>T (p.Ala586Val) | not specified [RCV004089690] | uncertain significance | 4 | 145142261 | 145142261 | Human | | name |
| 156119757 | CV2219294 | single nucleotide variant | NM_001366057.1(OTUD4):c.1240A>C (p.Thr414Pro) | not specified [RCV004095163] | uncertain significance | 4 | 145150532 | 145150532 | Human | | name |
| 156114563 | CV2268615 | single nucleotide variant | NM_001366057.1(OTUD4):c.1909C>A (p.Pro637Thr) | not specified [RCV004124025] | uncertain significance | 4 | 145141553 | 145141553 | Human | | name |
| 155968046 | CV2277134 | single nucleotide variant | NM_001366057.1(OTUD4):c.1898C>T (p.Ala633Val) | not specified [RCV004142780] | uncertain significance | 4 | 145141564 | 145141564 | Human | | name |
| 156275272 | CV2316442 | single nucleotide variant | NM_001366057.1(OTUD4):c.2517G>T (p.Gln839His) | not specified [RCV004169928] | uncertain significance | 4 | 145138258 | 145138258 | Human | | name |
| 156060307 | CV2317043 | single nucleotide variant | NM_001366057.1(OTUD4):c.2534A>G (p.Asn845Ser) | not specified [RCV004174535] | uncertain significance | 4 | 145138241 | 145138241 | Human | | name |
| 156361782 | CV2322856 | single nucleotide variant | NM_001366057.1(OTUD4):c.1500A>C (p.Arg500Ser) | not specified [RCV004185315] | uncertain significance | 4 | 145144357 | 145144357 | Human | | name |
| 156061538 | CV2323178 | single nucleotide variant | NM_001366057.1(OTUD4):c.1151C>A (p.Pro384His) | not specified [RCV004187579] | uncertain significance | 4 | 145150621 | 145150621 | Human | | name |
| 155920444 | CV2343353 | single nucleotide variant | NM_001366057.1(OTUD4):c.1514G>A (p.Arg505Gln) | not specified [RCV004194967] | uncertain significance | 4 | 145144343 | 145144343 | Human | | name |
| 156015095 | CV2360222 | single nucleotide variant | NM_001366057.1(OTUD4):c.2815C>A (p.Gln939Lys) | not specified [RCV004208570] | uncertain significance | 4 | 145137960 | 145137960 | Human | | name |
| 156335872 | CV2360573 | single nucleotide variant | NM_001366057.1(OTUD4):c.1490T>C (p.Val497Ala) | not specified [RCV004211330] | uncertain significance | 4 | 145144367 | 145144367 | Human | | name |
| 155930394 | CV2361136 | single nucleotide variant | NM_001366057.1(OTUD4):c.1178C>G (p.Ser393Cys) | not specified [RCV004216326] | uncertain significance | 4 | 145150594 | 145150594 | Human | | name |
| 155998674 | CV2373323 | single nucleotide variant | NM_001366057.1(OTUD4):c.2738C>T (p.Pro913Leu) | not specified [RCV004220033] | uncertain significance | 4 | 145138037 | 145138037 | Human | | name |
| 155994496 | CV2377528 | single nucleotide variant | NM_001366057.1(OTUD4):c.2806C>T (p.Arg936Trp) | not specified [RCV004225684] | uncertain significance | 4 | 145137969 | 145137969 | Human | | name |
| 156222985 | CV2394804 | single nucleotide variant | NM_001366057.1(OTUD4):c.1103G>T (p.Ser368Ile) | not specified [RCV004234471] | uncertain significance | 4 | 145150669 | 145150669 | Human | | name |
| 155909842 | CV2395371 | single nucleotide variant | NM_001366057.1(OTUD4):c.1556A>G (p.His519Arg) | not specified [RCV004239462] | uncertain significance | 4 | 145143992 | 145143992 | Human | | name |
| 329359598 | CV2446343 | single nucleotide variant | NM_001366057.1(OTUD4):c.2443G>C (p.Glu815Gln) | not specified [RCV004249471] | uncertain significance | 4 | 145138332 | 145138332 | Human | | name |
| 329370374 | CV2461695 | single nucleotide variant | NM_001366057.1(OTUD4):c.2324G>A (p.Ser775Asn) | not specified [RCV004269850] | uncertain significance | 4 | 145138451 | 145138451 | Human | | name |
| 401745938 | CV2693381 | single nucleotide variant | NM_001366057.1(OTUD4):c.2876G>A (p.Gly959Glu) | not specified [RCV004295339] | uncertain significance | 4 | 145137899 | 145137899 | Human | | name |
| 401763538 | CV2714587 | single nucleotide variant | NM_001366057.1(OTUD4):c.1646A>C (p.Lys549Thr) | not specified [RCV004318095] | uncertain significance | 4 | 145143402 | 145143402 | Human | | name |
| 401890176 | CV2763671 | single nucleotide variant | NM_001366057.1(OTUD4):c.2378C>G (p.Pro793Arg) | not specified [RCV004343174] | uncertain significance | 4 | 145138397 | 145138397 | Human | | name |
| 405279906 | CV3191532 | single nucleotide variant | NM_001366057.1(OTUD4):c.1699G>A (p.Val567Met) | OTUD4-related disorder [RCV003919683] | likely benign | 4 | 145142319 | 145142319 | Human | | name , trait , alternate_id |
| 405281684 | CV3224274 | single nucleotide variant | NM_001366057.1(OTUD4):c.1361A>G (p.Glu454Gly) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV003988656] | not provided | 4 | 145146328 | 145146328 | Human | | name |
| 405785557 | CV3374520 | single nucleotide variant | NM_001366057.1(OTUD4):c.1447T>G (p.Ser483Ala) | not specified [RCV004504733] | uncertain significance | 4 | 145144410 | 145144410 | Human | | name |
| 405785562 | CV3374521 | single nucleotide variant | NM_001366057.1(OTUD4):c.1519A>C (p.Met507Leu) | not specified [RCV004504734] | uncertain significance | 4 | 145144338 | 145144338 | Human | | name |
| 405785567 | CV3374522 | single nucleotide variant | NM_001366057.1(OTUD4):c.1594A>G (p.Thr532Ala) | not specified [RCV004504735] | uncertain significance | 4 | 145143954 | 145143954 | Human | | name |
| 405785576 | CV3374524 | single nucleotide variant | NM_001366057.1(OTUD4):c.1631T>C (p.Val544Ala) | not specified [RCV004504737] | uncertain significance | 4 | 145143417 | 145143417 | Human | | name |
| 405785582 | CV3374525 | single nucleotide variant | NM_001366057.1(OTUD4):c.2164T>C (p.Tyr722His) | not specified [RCV004504738] | uncertain significance | 4 | 145138611 | 145138611 | Human | | name |
| 405785587 | CV3374526 | single nucleotide variant | NM_001366057.1(OTUD4):c.2360C>T (p.Pro787Leu) | not specified [RCV004504739] | uncertain significance | 4 | 145138415 | 145138415 | Human | | name |
| 405785592 | CV3374527 | single nucleotide variant | NM_001366057.1(OTUD4):c.2447C>T (p.Ser816Phe) | not specified [RCV004504740] | uncertain significance | 4 | 145138328 | 145138328 | Human | | name |
| 405785596 | CV3374528 | single nucleotide variant | NM_001366057.1(OTUD4):c.2451G>C (p.Glu817Asp) | not specified [RCV004504741] | uncertain significance | 4 | 145138324 | 145138324 | Human | | name |
| 405785601 | CV3374529 | single nucleotide variant | NM_001366057.1(OTUD4):c.2707T>G (p.Cys903Gly) | not specified [RCV004504742] | uncertain significance | 4 | 145138068 | 145138068 | Human | | name |
| 407517304 | CV3459790 | single nucleotide variant | NM_001366057.1(OTUD4):c.2498G>A (p.Gly833Asp) | not specified [RCV004650559] | uncertain significance | 4 | 145138277 | 145138277 | Human | | name |
| 407517145 | CV3459792 | single nucleotide variant | NM_001366057.1(OTUD4):c.1254C>G (p.Ile418Met) | not specified [RCV004650561] | uncertain significance | 4 | 145150518 | 145150518 | Human | | name |
| 407470041 | CV3459793 | single nucleotide variant | NM_001366057.1(OTUD4):c.2480A>T (p.Tyr827Phe) | not specified [RCV004661927] | uncertain significance | 4 | 145138295 | 145138295 | Human | | name |
| 407517148 | CV3459794 | single nucleotide variant | NM_001366057.1(OTUD4):c.1944C>G (p.Asn648Lys) | not specified [RCV004650562] | uncertain significance | 4 | 145141518 | 145141518 | Human | | name |
| 407470044 | CV3459795 | single nucleotide variant | NM_001366057.1(OTUD4):c.1492G>A (p.Gly498Ser) | not specified [RCV004661928] | likely benign | 4 | 145144365 | 145144365 | Human | | name |
| 407517151 | CV3459797 | single nucleotide variant | NM_001366057.1(OTUD4):c.2795C>G (p.Pro932Arg) | not specified [RCV004650563] | uncertain significance | 4 | 145137980 | 145137980 | Human | | name |
| 597736667 | CV3567924 | single nucleotide variant | NM_001366057.1(OTUD4):c.2581G>A (p.Val861Ile) | not specified [RCV004843754] | uncertain significance | 4 | 145138194 | 145138194 | Human | | name |
| 597736672 | CV3567925 | single nucleotide variant | NM_001366057.1(OTUD4):c.2095C>T (p.Leu699Phe) | not specified [RCV004843755] | uncertain significance | 4 | 145139980 | 145139980 | Human | | name |
| 597736677 | CV3567926 | single nucleotide variant | NM_001366057.1(OTUD4):c.2455C>T (p.Pro819Ser) | not specified [RCV004843756] | likely benign | 4 | 145138320 | 145138320 | Human | | name |
| 597736682 | CV3567927 | single nucleotide variant | NM_001366057.1(OTUD4):c.1614T>A (p.Asp538Glu) | not specified [RCV004843757] | uncertain significance | 4 | 145143434 | 145143434 | Human | | name |
| 597736686 | CV3567928 | single nucleotide variant | NM_001366057.1(OTUD4):c.1924G>A (p.Val642Met) | not specified [RCV004843758] | uncertain significance | 4 | 145141538 | 145141538 | Human | | name |
| 597736692 | CV3567929 | single nucleotide variant | NM_001366057.1(OTUD4):c.1883C>T (p.Ser628Leu) | not specified [RCV004843759] | uncertain significance | 4 | 145141579 | 145141579 | Human | | name |
| 597736698 | CV3567930 | single nucleotide variant | NM_001366057.1(OTUD4):c.2557A>G (p.Ile853Val) | not specified [RCV004843760] | uncertain significance | 4 | 145138218 | 145138218 | Human | | name |
| 597736701 | CV3567931 | single nucleotide variant | NM_001366057.1(OTUD4):c.1369C>T (p.Arg457Cys) | not specified [RCV004843761] | uncertain significance | 4 | 145146320 | 145146320 | Human | | name |
| 597736705 | CV3567932 | single nucleotide variant | NM_001366057.1(OTUD4):c.1009T>C (p.Trp337Arg) | not specified [RCV004843762] | uncertain significance | 4 | 145150865 | 145150865 | Human | | name |
| 597656208 | CV3567934 | single nucleotide variant | NM_001366057.1(OTUD4):c.1261A>G (p.Lys421Glu) | not specified [RCV004827489] | uncertain significance | 4 | 145146428 | 145146428 | Human | | name |
| 597736715 | CV3567935 | single nucleotide variant | NM_001366057.1(OTUD4):c.1217G>T (p.Ser406Ile) | not specified [RCV004843764] | uncertain significance | 4 | 145150555 | 145150555 | Human | | name |
| 597736719 | CV3567936 | single nucleotide variant | NM_001366057.1(OTUD4):c.1804A>G (p.Thr602Ala) | not specified [RCV004843765] | uncertain significance | 4 | 145142214 | 145142214 | Human | | name |
| 598184181 | CV3995663 | single nucleotide variant | NM_001366057.1(OTUD4):c.2042C>A (p.Pro681Gln) | not specified [RCV005395413] | uncertain significance | 4 | 145141420 | 145141420 | Human | | name |
| 598162483 | CV3995664 | single nucleotide variant | NM_001366057.1(OTUD4):c.2884C>T (p.His962Tyr) | not specified [RCV005390823] | uncertain significance | 4 | 145137891 | 145137891 | Human | | name |
| 598162490 | CV3995665 | single nucleotide variant | NM_001366057.1(OTUD4):c.1513C>T (p.Arg505Trp) | not specified [RCV005390824] | uncertain significance | 4 | 145144344 | 145144344 | Human | | name |
| 598162498 | CV3995666 | single nucleotide variant | NM_001366057.1(OTUD4):c.2030G>A (p.Arg677Gln) | not specified [RCV005390825] | uncertain significance | 4 | 145141432 | 145141432 | Human | | name |
| 598162505 | CV3995667 | single nucleotide variant | NM_001366057.1(OTUD4):c.1199A>G (p.Gln400Arg) | not specified [RCV005390826] | uncertain significance | 4 | 145150573 | 145150573 | Human | | name |
| 598162510 | CV3995668 | single nucleotide variant | NM_001366057.1(OTUD4):c.2761C>T (p.His921Tyr) | not specified [RCV005390827] | uncertain significance | 4 | 145138014 | 145138014 | Human | | name |
| 598162516 | CV3995669 | single nucleotide variant | NM_001366057.1(OTUD4):c.1052C>G (p.Ser351Cys) | not specified [RCV005390828] | uncertain significance | 4 | 145150822 | 145150822 | Human | | name |
| 598162526 | CV3995671 | single nucleotide variant | NM_001366057.1(OTUD4):c.2708G>A (p.Cys903Tyr) | not specified [RCV005390830] | uncertain significance | 4 | 145138067 | 145138067 | Human | | name |
| 8611984 | CV65577 | single nucleotide variant | NM_001366057.1(OTUD4):c.1193G>T (p.Gly398Val) | Variant of unknown significance [RCV000043630]|not provided [RCV004691732] | uncertain significance | 4 | 145150579 | 145150579 | Human | | name |
| 8638992 | CV94219 | single nucleotide variant | NM_001102653.1(OTUD4):c.2944T>C (p.Tyr982His) | Malignant melanoma [RCV000074327] | not provided | 4 | 145137636 | 145137636 | Human | | name |
| 156307687 | CV2252874 | single nucleotide variant | NM_001366057.1(OTUD4):c.3315G>A (p.Met1105Ile) | not specified [RCV004120479] | uncertain significance | 4 | 145137460 | 145137460 | Human | | name |
| 156203017 | CV2313269 | single nucleotide variant | NM_001366057.1(OTUD4):c.2999C>T (p.Thr1000Ile) | not specified [RCV004161517] | uncertain significance | 4 | 145137776 | 145137776 | Human | | name |
| 156355016 | CV2324398 | single nucleotide variant | NM_001366057.1(OTUD4):c.3058A>G (p.Lys1020Glu) | not specified [RCV004178893] | uncertain significance | 4 | 145137717 | 145137717 | Human | | name |
| 405785606 | CV3374530 | single nucleotide variant | NM_001366057.1(OTUD4):c.2999C>A (p.Thr1000Asn) | not specified [RCV004504743] | uncertain significance | 4 | 145137776 | 145137776 | Human | | name |
| 405785611 | CV3374531 | single nucleotide variant | NM_001366057.1(OTUD4):c.3092C>G (p.Ser1031Cys) | not specified [RCV004504744] | uncertain significance | 4 | 145137683 | 145137683 | Human | | name |
| 405785615 | CV3374532 | single nucleotide variant | NM_001366057.1(OTUD4):c.3206G>A (p.Ser1069Asn) | not specified [RCV004504745] | uncertain significance | 4 | 145137569 | 145137569 | Human | | name |
| 405785620 | CV3374533 | single nucleotide variant | NM_001366057.1(OTUD4):c.3241C>T (p.Arg1081Trp) | not specified [RCV004504746] | uncertain significance | 4 | 145137534 | 145137534 | Human | | name |
| 407517211 | CV3459791 | single nucleotide variant | NM_001366057.1(OTUD4):c.3128A>G (p.Tyr1043Cys) | not specified [RCV004650560] | uncertain significance | 4 | 145137647 | 145137647 | Human | | name |
| 597736709 | CV3567933 | single nucleotide variant | NM_001366057.1(OTUD4):c.3001G>C (p.Ala1001Pro) | not specified [RCV004843763] | uncertain significance | 4 | 145137774 | 145137774 | Human | | name |