| 15174078 | CV789237 | deletion | MYOCD, 1-BP DEL, NT1053 | MEGABLADDER, CONGENITAL [RCV000984631] | pathogenic | | | | Human | | name |
| 408367729 | CV3514302 | single nucleotide variant | NM_001146312.3(MYOCD):c.*6C>T | MYOCD-related condition [RCV004759183] | likely benign | 17 | 12763650 | 12763650 | Human | | name , trait |
| 150511844 | CV1212850 | single nucleotide variant | NM_001146312.3(MYOCD):c.-64G>A | not provided [RCV001598082] | benign | 17 | 12666125 | 12666125 | Human | | name |
| 596925699 | CV3542109 | single nucleotide variant | NM_001146312.3(MYOCD):c.55+2T>C | Megabladder, congenital [RCV004795825] | likely pathogenic | 17 | 12666245 | 12666245 | Human | 1 | name |
| 150334094 | CV1172949 | single nucleotide variant | NM_001146312.3(MYOCD):c.56-174T>C | not provided [RCV001539786] | benign | 17 | 12704954 | 12704954 | Human | | name |
| 150333449 | CV1172950 | single nucleotide variant | NM_001146312.3(MYOCD):c.718-10T>C | not provided [RCV001539501] | benign | 17 | 12744173 | 12744173 | Human | | name |
| 150510962 | CV1210636 | single nucleotide variant | NM_001146312.3(MYOCD):c.718-92A>G | not provided [RCV001597815] | benign | 17 | 12744091 | 12744091 | Human | | name |
| 150445256 | CV1215462 | single nucleotide variant | NM_001146312.3(MYOCD):c.253+23A>G | not provided [RCV001611055] | benign | 17 | 12717444 | 12717444 | Human | | name |
| 150503114 | CV1212404 | single nucleotide variant | NM_001146312.3(MYOCD):c.416-184T>C | not provided [RCV001595279] | benign | 17 | 12735977 | 12735977 | Human | | name |
| 150462455 | CV1214647 | single nucleotide variant | NM_001146312.3(MYOCD):c.2058+48G>A | not provided [RCV001613640] | benign | 17 | 12753394 | 12753394 | Human | | name |
| 150437669 | CV1220758 | single nucleotide variant | NM_001146312.3(MYOCD):c.253+159G>A | not provided [RCV001609743] | benign | 17 | 12717580 | 12717580 | Human | | name |
| 150475017 | CV1234535 | single nucleotide variant | NM_001146312.3(MYOCD):c.254-238G>A | not provided [RCV001651855] | benign | 17 | 12722609 | 12722609 | Human | | name |
| 150505251 | CV1255423 | single nucleotide variant | NM_001146312.3(MYOCD):c.122-156G>C | not provided [RCV001677870] | benign | 17 | 12715363 | 12715363 | Human | | name |
| 150496745 | CV1255980 | single nucleotide variant | NM_001146312.3(MYOCD):c.717+245T>C | not provided [RCV001676075] | benign | 17 | 12739573 | 12739573 | Human | | name |
| 150467875 | CV1277647 | single nucleotide variant | NM_001146312.3(MYOCD):c.971+235T>C | not provided [RCV001710942] | benign | 17 | 12744671 | 12744671 | Human | | name |
| 8585252 | CV119835 | single nucleotide variant | NM_001146312.2(MYOCD):c.416-4585C>A | Lung cancer [RCV000100355] | uncertain significance | 17 | 12731576 | 12731576 | Human | | name |
| 150455506 | CV1220470 | single nucleotide variant | NM_001146312.3(MYOCD):c.1125+271G>A | not provided [RCV001612563] | benign | 17 | 12746343 | 12746343 | Human | | name |
| 150491280 | CV1251166 | single nucleotide variant | NM_001146312.3(MYOCD):c.2058+152C>T | not provided [RCV001674834] | benign | 17 | 12753498 | 12753498 | Human | | name |
| 150499282 | CV1254333 | single nucleotide variant | NM_001146312.3(MYOCD):c.2059-232C>T | not provided [RCV001676507] | benign | 17 | 12756182 | 12756182 | Human | | name |
| 150506018 | CV1254765 | single nucleotide variant | NM_001146312.3(MYOCD):c.2202+232G>A | not provided [RCV001678070] | benign | 17 | 12756789 | 12756789 | Human | | name |
| 150452406 | CV1254960 | single nucleotide variant | NM_001146312.3(MYOCD):c.2058+151C>A | not provided [RCV001668019] | benign | 17 | 12753497 | 12753497 | Human | | name |
| 150479820 | CV1258316 | single nucleotide variant | NM_001146312.3(MYOCD):c.2332-126C>T | not provided [RCV001685735] | benign | 17 | 12760524 | 12760524 | Human | | name |
| 150485427 | CV1262091 | single nucleotide variant | NM_001146312.3(MYOCD):c.2332-271G>A | not provided [RCV001686782] | benign | 17 | 12760379 | 12760379 | Human | | name |
| 150440929 | CV1266994 | single nucleotide variant | NM_001146312.3(MYOCD):c.2332-246G>T | not provided [RCV001690430] | benign | 17 | 12760404 | 12760404 | Human | | name |
| 150457588 | CV1269511 | single nucleotide variant | NM_001146312.3(MYOCD):c.2389+153T>C | not provided [RCV001693051] | benign | 17 | 12760860 | 12760860 | Human | | name |
| 150464797 | CV1252770 | microsatellite | NM_001146312.3(MYOCD):c.592-253TA[5] | not provided [RCV001670094] | benign | 17 | 12738950 | 12738951 | Human | | name |
| 151347908 | CV1319047 | microsatellite | NM_001146312.3(MYOCD):c.971+3_971+6del | Megabladder, congenital [RCV001807686] | likely pathogenic | 17 | 12744434 | 12744437 | Human | | name |
| 407504989 | CV3451000 | single nucleotide variant | NM_001146312.3(MYOCD):c.7C>T (p.Leu3Phe) | not specified [RCV004645982] | uncertain significance | 17 | 12666195 | 12666195 | Human | | name |
| 598203169 | CV3990361 | single nucleotide variant | NM_001146312.3(MYOCD):c.19G>A (p.Glu7Lys) | not specified [RCV005376376] | uncertain significance | 17 | 12666207 | 12666207 | Human | | name |
| 8647052 | CV106688 | single nucleotide variant | NM_001146312.3(MYOCD):c.543C>T (p.Asp181=) | not provided [RCV000087186] | uncertain significance | 17 | 12736288 | 12736288 | Human | | name |
| 405735391 | CV3322914 | single nucleotide variant | NM_001146312.3(MYOCD):c.82A>G (p.Arg28Gly) | not specified [RCV004464876] | uncertain significance | 17 | 12705154 | 12705154 | Human | | name |
| 596926855 | CV3536363 | deletion | NM_001146312.3(MYOCD):c.232del (p.Val78fs) | Megabladder, congenital [RCV004789770] | likely pathogenic | 17 | 12717399 | 12717399 | Human | 1 | name |
| 596947751 | CV3547334 | single nucleotide variant | NM_001146312.3(MYOCD):c.537G>A (p.Pro179=) | not provided [RCV004811638] | likely benign | 17 | 12736282 | 12736282 | Human | | name |
| 15105763 | CV715241 | single nucleotide variant | NM_001146312.3(MYOCD):c.423G>A (p.Gln141=) | not provided [RCV000959948] | benign | 17 | 12736168 | 12736168 | Human | | name |
| 150486979 | CV1225832 | single nucleotide variant | NM_001146312.3(MYOCD):c.1506T>C (p.Asn502=) | not provided [RCV001617993] | benign | 17 | 12752794 | 12752794 | Human | | name |
| 150461043 | CV1270599 | single nucleotide variant | NM_001146312.3(MYOCD):c.1812T>C (p.Ala604=) | not provided [RCV001693589] | benign | 17 | 12753100 | 12753100 | Human | | name |
| 155974983 | CV2221252 | single nucleotide variant | NM_001146312.3(MYOCD):c.109G>C (p.Gly37Arg) | not specified [RCV004094688] | uncertain significance | 17 | 12705181 | 12705181 | Human | | name |
| 408367596 | CV3509674 | single nucleotide variant | NM_001146312.3(MYOCD):c.1146G>A (p.Gln382=) | MYOCD-related condition [RCV004759019] | likely benign | 17 | 12752434 | 12752434 | Human | | name , trait |
| 597636920 | CV3558260 | single nucleotide variant | NM_001146312.3(MYOCD):c.137C>A (p.Ala46Asp) | not specified [RCV004831448] | uncertain significance | 17 | 12715534 | 12715534 | Human | | name |
| 598125836 | CV3883289 | deletion | NM_001146312.3(MYOCD):c.878del (p.Gln293fs) | Megabladder, congenital [RCV005233164] | uncertain significance | 17 | 12744343 | 12744343 | Human | 1 | name |
| 598158551 | CV3990363 | single nucleotide variant | NM_001146312.3(MYOCD):c.263C>A (p.Ala88Glu) | not specified [RCV005389935] | uncertain significance | 17 | 12722856 | 12722856 | Human | | name |
| 15161967 | CV703964 | single nucleotide variant | NM_001146312.3(MYOCD):c.226G>A (p.Asp76Asn) | not provided [RCV000947769] | benign | 17 | 12717394 | 12717394 | Human | | name |
| 15153145 | CV715242 | single nucleotide variant | NM_001146312.3(MYOCD):c.2118C>T (p.His706=) | not provided [RCV000968491] | benign|likely benign | 17 | 12756473 | 12756473 | Human | | name |
| 15113367 | CV715243 | single nucleotide variant | NM_001146312.3(MYOCD):c.2634C>T (p.Ser878=) | not provided [RCV000961479] | benign | 17 | 12763317 | 12763317 | Human | | name |
| 15113374 | CV715244 | single nucleotide variant | NM_001146312.3(MYOCD):c.2721C>G (p.Gly907=) | not provided [RCV000961480] | benign | 17 | 12763404 | 12763404 | Human | | name |
| 15113380 | CV715245 | single nucleotide variant | NM_001146312.3(MYOCD):c.2739G>A (p.Gln913=) | not provided [RCV000961481] | benign | 17 | 12763422 | 12763422 | Human | | name |
| 15179949 | CV726984 | single nucleotide variant | NM_001146312.3(MYOCD):c.1917G>A (p.Pro639=) | not provided [RCV000885410] | likely benign | 17 | 12753205 | 12753205 | Human | | name |
| 8636015 | CV91238 | single nucleotide variant | NM_001146312.2(MYOCD):c.1125G>A (p.Lys375=) | Malignant melanoma [RCV000071336] | not provided | 17 | 12746072 | 12746072 | Human | | name |
| 8636016 | CV91239 | single nucleotide variant | NM_001146312.2(MYOCD):c.1371G>A (p.Pro457=) | Malignant melanoma [RCV000071337] | not provided | 17 | 12752659 | 12752659 | Human | | name |
| 8636018 | CV91241 | single nucleotide variant | NM_001146312.2(MYOCD):c.1662G>A (p.Arg554=) | Malignant melanoma [RCV000071339] | not provided | 17 | 12752950 | 12752950 | Human | | name |
| 150506255 | CV1213733 | insertion | NM_001146312.3(MYOCD):c.122-209_122-208insCT | not provided [RCV001595990] | benign | 17 | 12715310 | 12715311 | Human | | name |
| 150451820 | CV1260307 | microsatellite | NM_001146312.3(MYOCD):c.2389+297_2389+300del | not provided [RCV001680797] | benign | 17 | 12761000 | 12761003 | Human | | name |
| 150547087 | CV1291867 | single nucleotide variant | NM_001146312.3(MYOCD):c.506G>A (p.Ser169Asn) | Megabladder, congenital [RCV001733546]|not provided [RCV004704644]|not specified [RCV004040043] | likely benign|uncertain significance | 17 | 12736251 | 12736251 | Human | 1 | name |
| 9687141 | CV171586 | deletion | NM_001146312.3(MYOCD):c.2678del (p.Lys893fs) | Prostate cancer [RCV000149360] | uncertain significance | 17 | 12763360 | 12763360 | Human | 2 | name |
| 156103514 | CV2310757 | single nucleotide variant | NM_001146312.3(MYOCD):c.359A>G (p.Glu120Gly) | not specified [RCV004157686] | uncertain significance | 17 | 12722952 | 12722952 | Human | | name |
| 156280925 | CV2338428 | single nucleotide variant | NM_001146312.3(MYOCD):c.935G>A (p.Arg312Gln) | not specified [RCV004186472] | uncertain significance | 17 | 12744400 | 12744400 | Human | | name |
| 401781915 | CV2722333 | single nucleotide variant | NM_001146312.3(MYOCD):c.358G>A (p.Glu120Lys) | not specified [RCV004322746] | uncertain significance | 17 | 12722951 | 12722951 | Human | | name |
| 401882800 | CV2788597 | single nucleotide variant | NM_001146312.3(MYOCD):c.991G>C (p.Val331Leu) | Megabladder, congenital [RCV005399356]|not specified [RCV004361091] | uncertain significance | 17 | 12745938 | 12745938 | Human | 1 | name |
| 405735306 | CV3322904 | single nucleotide variant | NM_001146312.3(MYOCD):c.725C>A (p.Ser242Tyr) | not specified [RCV004464866] | uncertain significance | 17 | 12744190 | 12744190 | Human | | name |
| 405735348 | CV3322909 | single nucleotide variant | NM_001146312.3(MYOCD):c.761A>G (p.Lys254Arg) | not specified [RCV004464871] | uncertain significance | 17 | 12744226 | 12744226 | Human | | name |
| 405735398 | CV3322915 | single nucleotide variant | NM_001146312.3(MYOCD):c.868C>G (p.Leu290Val) | not specified [RCV004464877] | uncertain significance | 17 | 12744333 | 12744333 | Human | | name |
| 407515827 | CV3450995 | single nucleotide variant | NM_001146312.3(MYOCD):c.986A>G (p.Gln329Arg) | not specified [RCV004650042] | uncertain significance | 17 | 12745933 | 12745933 | Human | | name |
| 407504983 | CV3450999 | single nucleotide variant | NM_001146312.3(MYOCD):c.679C>G (p.Pro227Ala) | not specified [RCV004645981] | uncertain significance | 17 | 12739290 | 12739290 | Human | | name |
| 407515840 | CV3451002 | single nucleotide variant | NM_001146312.3(MYOCD):c.712G>A (p.Val238Ile) | not specified [RCV004650046] | uncertain significance | 17 | 12739323 | 12739323 | Human | | name |
| 408373065 | CV3502183 | single nucleotide variant | NM_001146312.3(MYOCD):c.818A>G (p.Gln273Arg) | not provided [RCV004725770] | uncertain significance | 17 | 12744283 | 12744283 | Human | | name |
| 597636739 | CV3558250 | single nucleotide variant | NM_001146312.3(MYOCD):c.863G>A (p.Arg288Gln) | not specified [RCV004831438] | uncertain significance | 17 | 12744328 | 12744328 | Human | | name |
| 597636744 | CV3558251 | single nucleotide variant | NM_001146312.3(MYOCD):c.527C>T (p.Ala176Val) | not specified [RCV004831439] | uncertain significance | 17 | 12736272 | 12736272 | Human | | name |
| 597636754 | CV3558253 | single nucleotide variant | NM_001146312.3(MYOCD):c.566C>T (p.Ser189Leu) | not specified [RCV004831441] | likely benign | 17 | 12736311 | 12736311 | Human | | name |
| 598203182 | CV3990365 | single nucleotide variant | NM_001146312.3(MYOCD):c.703C>A (p.His235Asn) | not specified [RCV005376378] | uncertain significance | 17 | 12739314 | 12739314 | Human | | name |
| 598203189 | CV3990366 | single nucleotide variant | NM_001146312.3(MYOCD):c.364G>A (p.Val122Met) | not specified [RCV005376379] | uncertain significance | 17 | 12722957 | 12722957 | Human | | name |
| 14978060 | CV677115 | single nucleotide variant | NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter) | Megabladder, congenital [RCV000984630]|Prune belly syndrome [RCV000850243] | pathogenic | 17 | 12722936 | 12722936 | Human | 3 | name |
| 8627917 | CV83061 | single nucleotide variant | NM_001146312.2(MYOCD):c.973G>A (p.Glu325Lys) | Malignant melanoma [RCV000063141] | not provided | 17 | 12745920 | 12745920 | Human | | name |
| 8636012 | CV91235 | single nucleotide variant | NM_001146312.2(MYOCD):c.367G>A (p.Glu123Lys) | Malignant melanoma [RCV000071333] | not provided | 17 | 12722960 | 12722960 | Human | | name |
| 8636013 | CV91236 | single nucleotide variant | NM_001146312.3(MYOCD):c.659C>T (p.Ala220Val) | not specified [RCV004337787] | uncertain significance|not provided | 17 | 12739270 | 12739270 | Human | | name |
| 8636014 | CV91237 | single nucleotide variant | NM_001146312.2(MYOCD):c.688A>C (p.Thr230Pro) | Malignant melanoma [RCV000071335] | not provided | 17 | 12739299 | 12739299 | Human | | name |
| 150440902 | CV1246651 | single nucleotide variant | NM_001146312.3(MYOCD):c.1941G>C (p.Gln647His) | not provided [RCV001666304] | benign | 17 | 12753229 | 12753229 | Human | | name |
| 9850362 | CV181449 | single nucleotide variant | NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val) | Seizure [RCV000162186]|not specified [RCV002247560] | likely pathogenic|benign | 17 | 12752540 | 12752540 | Human | 2 | name |
| 156186807 | CV2195704 | single nucleotide variant | NM_001146312.3(MYOCD):c.2185C>G (p.Pro729Ala) | not specified [RCV004076064] | uncertain significance | 17 | 12756540 | 12756540 | Human | | name |
| 155915497 | CV2200337 | single nucleotide variant | NM_001146312.3(MYOCD):c.2102A>G (p.His701Arg) | not specified [RCV004076669] | likely benign | 17 | 12756457 | 12756457 | Human | | name |
| 156379982 | CV2211704 | single nucleotide variant | NM_001146312.3(MYOCD):c.1748C>T (p.Ser583Phe) | not specified [RCV004084589] | uncertain significance | 17 | 12753036 | 12753036 | Human | | name |
| 156358292 | CV2250996 | single nucleotide variant | NM_001146312.3(MYOCD):c.2342G>A (p.Arg781Gln) | not specified [RCV004123565] | uncertain significance | 17 | 12760660 | 12760660 | Human | | name |
| 156218393 | CV2253947 | single nucleotide variant | NM_001146312.3(MYOCD):c.2634C>A (p.Ser878Arg) | not specified [RCV004127621] | uncertain significance | 17 | 12763317 | 12763317 | Human | | name |
| 156177669 | CV2298233 | single nucleotide variant | NM_001146312.3(MYOCD):c.1493T>C (p.Met498Thr) | not specified [RCV004160156] | uncertain significance | 17 | 12752781 | 12752781 | Human | | name |
| 156294806 | CV2302990 | single nucleotide variant | NM_001146312.3(MYOCD):c.2078G>C (p.Gly693Ala) | not specified [RCV004156786] | uncertain significance | 17 | 12756433 | 12756433 | Human | | name |
| 156108544 | CV2313774 | single nucleotide variant | NM_001146312.3(MYOCD):c.2073C>A (p.His691Gln) | not specified [RCV004170280] | uncertain significance | 17 | 12756428 | 12756428 | Human | | name |
| 156158109 | CV2314507 | single nucleotide variant | NM_001146312.3(MYOCD):c.2408G>A (p.Arg803Lys) | not specified [RCV004168604] | uncertain significance | 17 | 12763091 | 12763091 | Human | | name |
| 156150476 | CV2318662 | single nucleotide variant | NM_001146312.3(MYOCD):c.2404G>A (p.Ala802Thr) | not specified [RCV004173558] | uncertain significance | 17 | 12763087 | 12763087 | Human | | name |
| 155982652 | CV2337186 | single nucleotide variant | NM_001146312.3(MYOCD):c.2834C>T (p.Pro945Leu) | not specified [RCV004192942] | uncertain significance | 17 | 12763517 | 12763517 | Human | | name |
| 156175136 | CV2345992 | single nucleotide variant | NM_001146312.3(MYOCD):c.1801T>C (p.Cys601Arg) | not specified [RCV004199024] | uncertain significance | 17 | 12753089 | 12753089 | Human | | name |
| 156343292 | CV2364091 | single nucleotide variant | NM_001146312.3(MYOCD):c.2893A>G (p.Ile965Val) | not specified [RCV004221472] | uncertain significance | 17 | 12763576 | 12763576 | Human | | name |
| 156099490 | CV2367390 | single nucleotide variant | NM_001146312.3(MYOCD):c.1734C>A (p.Ser578Arg) | not specified [RCV004209292] | uncertain significance | 17 | 12753022 | 12753022 | Human | | name |
| 156099508 | CV2367391 | single nucleotide variant | NM_001146312.3(MYOCD):c.1735T>G (p.Cys579Gly) | not specified [RCV004209293] | uncertain significance | 17 | 12753023 | 12753023 | Human | | name |
| 156261614 | CV2381399 | single nucleotide variant | NM_001146312.3(MYOCD):c.1256C>T (p.Thr419Met) | not specified [RCV004227447] | uncertain significance | 17 | 12752544 | 12752544 | Human | | name |
| 156344880 | CV2381973 | single nucleotide variant | NM_001146312.3(MYOCD):c.2689G>C (p.Asp897His) | not provided [RCV003223772]|not specified [RCV004225904] | uncertain significance | 17 | 12763372 | 12763372 | Human | | name |
| 155933508 | CV2399335 | single nucleotide variant | NM_001146312.3(MYOCD):c.1966A>C (p.Asn656His) | not provided [RCV005256901]|not specified [RCV004242624] | likely benign|uncertain significance | 17 | 12753254 | 12753254 | Human | | name |
| 329359163 | CV2435321 | single nucleotide variant | NM_001146312.3(MYOCD):c.2792C>G (p.Thr931Ser) | not specified [RCV004252982] | uncertain significance | 17 | 12763475 | 12763475 | Human | | name |
| 329364298 | CV2447340 | single nucleotide variant | NM_001146312.3(MYOCD):c.1952T>G (p.Leu651Trp) | not specified [RCV004262621] | uncertain significance | 17 | 12753240 | 12753240 | Human | | name |
| 329402254 | CV2454096 | single nucleotide variant | NM_001146312.3(MYOCD):c.1439C>A (p.Pro480His) | not specified [RCV004265600] | uncertain significance | 17 | 12752727 | 12752727 | Human | | name |
| 329402468 | CV2454289 | single nucleotide variant | NM_001146312.3(MYOCD):c.2737C>A (p.Gln913Lys) | not specified [RCV004265754] | uncertain significance | 17 | 12763420 | 12763420 | Human | | name |
| 329351036 | CV2477866 | single nucleotide variant | NM_001146312.3(MYOCD):c.1208C>T (p.Pro403Leu) | not provided [RCV003223979] | uncertain significance | 17 | 12752496 | 12752496 | Human | | name |
| 401761173 | CV2689052 | single nucleotide variant | NM_001146312.3(MYOCD):c.2000C>T (p.Ala667Val) | not specified [RCV004305825] | uncertain significance | 17 | 12753288 | 12753288 | Human | | name |
| 401783769 | CV2720413 | single nucleotide variant | NM_001146312.3(MYOCD):c.2536C>T (p.Pro846Ser) | not specified [RCV004327842] | uncertain significance | 17 | 12763219 | 12763219 | Human | | name |
| 401779860 | CV2725743 | single nucleotide variant | NM_001146312.3(MYOCD):c.1685C>T (p.Pro562Leu) | not specified [RCV004322434] | uncertain significance | 17 | 12752973 | 12752973 | Human | | name |
| 401879476 | CV2773118 | single nucleotide variant | NM_001146312.3(MYOCD):c.1415C>G (p.Pro472Arg) | not specified [RCV004351543] | uncertain significance | 17 | 12752703 | 12752703 | Human | | name |
| 401900064 | CV2780304 | single nucleotide variant | NM_001146312.3(MYOCD):c.1843G>A (p.Val615Met) | not specified [RCV004355928] | uncertain significance | 17 | 12753131 | 12753131 | Human | | name |
| 401904124 | CV2814969 | single nucleotide variant | NM_001146312.3(MYOCD):c.1885C>A (p.Leu629Ile) | MYOCD-related condition [RCV004758937]|not provided [RCV003419663] | likely benign | 17 | 12753173 | 12753173 | Human | 1 | name , trait |
| 401914053 | CV2814970 | single nucleotide variant | NM_001146312.3(MYOCD):c.2074G>A (p.Asp692Asn) | not provided [RCV003428149] | benign | 17 | 12756429 | 12756429 | Human | | name |
| 401935694 | CV2814971 | single nucleotide variant | NM_001146312.3(MYOCD):c.2225A>G (p.Asp742Gly) | not provided [RCV003413154] | benign | 17 | 12758107 | 12758107 | Human | | name |
| 401914056 | CV2814972 | single nucleotide variant | NM_001146312.3(MYOCD):c.2520C>A (p.Ser840Arg) | not provided [RCV003428150] | benign | 17 | 12763203 | 12763203 | Human | | name |
| 405259475 | CV3186285 | single nucleotide variant | NM_001146312.3(MYOCD):c.1628A>G (p.Glu543Gly) | not provided [RCV003884044] | uncertain significance | 17 | 12752916 | 12752916 | Human | | name |
| 405734437 | CV3322798 | single nucleotide variant | NM_001146312.3(MYOCD):c.1226G>T (p.Gly409Val) | not specified [RCV004464760] | uncertain significance | 17 | 12752514 | 12752514 | Human | | name |
| 405734516 | CV3322808 | single nucleotide variant | NM_001146312.3(MYOCD):c.1465G>T (p.Val489Phe) | not specified [RCV004464770] | uncertain significance | 17 | 12752753 | 12752753 | Human | | name |
| 405734532 | CV3322810 | single nucleotide variant | NM_001146312.3(MYOCD):c.1471G>A (p.Val491Met) | not specified [RCV004464772] | uncertain significance | 17 | 12752759 | 12752759 | Human | | name |
| 405734588 | CV3322816 | single nucleotide variant | NM_001146312.3(MYOCD):c.1519C>T (p.Pro507Ser) | not specified [RCV004464778] | uncertain significance | 17 | 12752807 | 12752807 | Human | | name |
| 405734620 | CV3322820 | single nucleotide variant | NM_001146312.3(MYOCD):c.1546G>A (p.Glu516Lys) | not specified [RCV004464782] | uncertain significance | 17 | 12752834 | 12752834 | Human | | name |
| 405734650 | CV3322824 | single nucleotide variant | NM_001146312.3(MYOCD):c.1553A>G (p.Asp518Gly) | not specified [RCV004464786] | uncertain significance | 17 | 12752841 | 12752841 | Human | | name |
| 405734699 | CV3322830 | single nucleotide variant | NM_001146312.3(MYOCD):c.1564G>A (p.Val522Met) | not specified [RCV004464792] | uncertain significance | 17 | 12752852 | 12752852 | Human | | name |
| 405734875 | CV3322852 | single nucleotide variant | NM_001146312.3(MYOCD):c.1916C>T (p.Pro639Leu) | not specified [RCV004464814] | uncertain significance | 17 | 12753204 | 12753204 | Human | | name |
| 405734994 | CV3322866 | single nucleotide variant | NM_001146312.3(MYOCD):c.2416C>G (p.His806Asp) | not specified [RCV004464828] | uncertain significance | 17 | 12763099 | 12763099 | Human | | name |
| 407515830 | CV3450996 | single nucleotide variant | NM_001146312.3(MYOCD):c.1436C>G (p.Ser479Cys) | not specified [RCV004650043] | uncertain significance | 17 | 12752724 | 12752724 | Human | | name |
| 407504980 | CV3450998 | single nucleotide variant | NM_001146312.3(MYOCD):c.1016C>T (p.Thr339Met) | not specified [RCV004645980] | uncertain significance | 17 | 12745963 | 12745963 | Human | | name |
| 407515837 | CV3451001 | single nucleotide variant | NM_001146312.3(MYOCD):c.1886T>C (p.Leu629Pro) | not specified [RCV004650045] | uncertain significance | 17 | 12753174 | 12753174 | Human | | name |
| 407515843 | CV3451003 | single nucleotide variant | NM_001146312.3(MYOCD):c.2044G>T (p.Val682Leu) | not specified [RCV004650047] | uncertain significance | 17 | 12753332 | 12753332 | Human | | name |
| 408367535 | CV3507312 | single nucleotide variant | NM_001146312.3(MYOCD):c.1031C>T (p.Thr344Ile) | MYOCD-related condition [RCV004758962] | likely benign | 17 | 12745978 | 12745978 | Human | | name , trait |
| 596947776 | CV3547359 | single nucleotide variant | NM_001146312.3(MYOCD):c.1333G>A (p.Gly445Ser) | not provided [RCV004811663] | benign | 17 | 12752621 | 12752621 | Human | | name |
| 597636749 | CV3558252 | single nucleotide variant | NM_001146312.3(MYOCD):c.1478C>T (p.Thr493Met) | not specified [RCV004831440] | uncertain significance | 17 | 12752766 | 12752766 | Human | | name |
| 597636888 | CV3558254 | single nucleotide variant | NM_001146312.3(MYOCD):c.2768G>C (p.Ser923Thr) | Megabladder, congenital [RCV005392903]|not specified [RCV004831442] | likely benign|uncertain significance | 17 | 12763451 | 12763451 | Human | 1 | name |
| 597636893 | CV3558255 | single nucleotide variant | NM_001146312.3(MYOCD):c.2489C>T (p.Ser830Leu) | not specified [RCV004831443] | uncertain significance | 17 | 12763172 | 12763172 | Human | | name |
| 597636899 | CV3558256 | single nucleotide variant | NM_001146312.3(MYOCD):c.1652A>G (p.Lys551Arg) | not specified [RCV004831444] | uncertain significance | 17 | 12752940 | 12752940 | Human | | name |
| 597636903 | CV3558257 | single nucleotide variant | NM_001146312.3(MYOCD):c.2425C>A (p.Leu809Ile) | not specified [RCV004831445] | uncertain significance | 17 | 12763108 | 12763108 | Human | | name |
| 597636915 | CV3558259 | single nucleotide variant | NM_001146312.3(MYOCD):c.2444T>C (p.Ile815Thr) | not specified [RCV004831447] | uncertain significance | 17 | 12763127 | 12763127 | Human | | name |
| 597636925 | CV3558261 | single nucleotide variant | NM_001146312.3(MYOCD):c.2528C>G (p.Pro843Arg) | not specified [RCV004831449] | uncertain significance | 17 | 12763211 | 12763211 | Human | | name |
| 597636930 | CV3558262 | single nucleotide variant | NM_001146312.3(MYOCD):c.1082C>G (p.Ser361Cys) | not specified [RCV004831450] | uncertain significance | 17 | 12746029 | 12746029 | Human | | name |
| 597636936 | CV3558263 | single nucleotide variant | NM_001146312.3(MYOCD):c.1441T>C (p.Ser481Pro) | not specified [RCV004831451] | uncertain significance | 17 | 12752729 | 12752729 | Human | | name |
| 597636941 | CV3558264 | single nucleotide variant | NM_001146312.3(MYOCD):c.2404G>C (p.Ala802Pro) | not specified [RCV004831452] | uncertain significance | 17 | 12763087 | 12763087 | Human | | name |
| 597636946 | CV3558265 | single nucleotide variant | NM_001146312.3(MYOCD):c.2896G>A (p.Asp966Asn) | not specified [RCV004831453] | uncertain significance | 17 | 12763579 | 12763579 | Human | | name |
| 597636951 | CV3558266 | single nucleotide variant | NM_001146312.3(MYOCD):c.2797T>C (p.Ser933Pro) | not specified [RCV004831454] | uncertain significance | 17 | 12763480 | 12763480 | Human | | name |
| 597636955 | CV3558267 | single nucleotide variant | NM_001146312.3(MYOCD):c.2661G>A (p.Met887Ile) | not specified [RCV004831455] | uncertain significance | 17 | 12763344 | 12763344 | Human | | name |
| 597636965 | CV3558270 | single nucleotide variant | NM_001146312.3(MYOCD):c.2539T>C (p.Tyr847His) | not specified [RCV004831457] | uncertain significance | 17 | 12763222 | 12763222 | Human | | name |
| 598203175 | CV3990362 | single nucleotide variant | NM_001146312.3(MYOCD):c.2401G>C (p.Asp801His) | not specified [RCV005376377] | uncertain significance | 17 | 12763084 | 12763084 | Human | | name |
| 598158555 | CV3990364 | single nucleotide variant | NM_001146312.3(MYOCD):c.1543T>C (p.Ser515Pro) | not specified [RCV005389936] | uncertain significance | 17 | 12752831 | 12752831 | Human | | name |
| 598203196 | CV3990367 | single nucleotide variant | NM_001146312.3(MYOCD):c.1307C>T (p.Ser436Phe) | not specified [RCV005376380] | uncertain significance | 17 | 12752595 | 12752595 | Human | | name |
| 598203203 | CV3990368 | single nucleotide variant | NM_001146312.3(MYOCD):c.2666G>A (p.Gly889Glu) | not specified [RCV005376381] | uncertain significance | 17 | 12763349 | 12763349 | Human | | name |
| 598203210 | CV3990369 | single nucleotide variant | NM_001146312.3(MYOCD):c.1030A>G (p.Thr344Ala) | not specified [RCV005376382] | uncertain significance | 17 | 12745977 | 12745977 | Human | | name |
| 598203217 | CV3990370 | single nucleotide variant | NM_001146312.3(MYOCD):c.1811C>T (p.Ala604Val) | not specified [RCV005376383] | likely benign | 17 | 12753099 | 12753099 | Human | | name |
| 598208385 | CV4007687 | single nucleotide variant | NM_001146312.3(MYOCD):c.2219C>T (p.Ser740Phe) | Megabladder, congenital [RCV005400001] | uncertain significance | 17 | 12758101 | 12758101 | Human | 1 | name |
| 15149335 | CV726983 | single nucleotide variant | NM_001146312.3(MYOCD):c.1447G>A (p.Gly483Ser) | not provided [RCV000879144] | benign | 17 | 12752735 | 12752735 | Human | | name |
| 8627918 | CV83062 | single nucleotide variant | NM_001146312.2(MYOCD):c.1828G>A (p.Gly610Arg) | Malignant melanoma [RCV000063142] | not provided | 17 | 12753116 | 12753116 | Human | | name |
| 8636017 | CV91240 | single nucleotide variant | NM_001146312.2(MYOCD):c.1494G>A (p.Met498Ile) | Malignant melanoma [RCV000071338] | not provided | 17 | 12752782 | 12752782 | Human | | name |
| 8636019 | CV91242 | single nucleotide variant | NM_001146312.2(MYOCD):c.2597G>A (p.Gly866Glu) | Malignant melanoma [RCV000071340] | not provided | 17 | 12763280 | 12763280 | Human | | name |
| 14978062 | CV677117 | deletion | NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs) | Megabladder, congenital [RCV000984631]|Prune belly syndrome [RCV000850244] | pathogenic | 17 | 12745999 | 12746000 | Human | 3 | name |