| 150475224 | CV1202213 | single nucleotide variant | NM_176869.3(PPA2):c.*82T>C | not provided [RCV001589456] | likely benign | 4 | 105369643 | 105369643 | Human | | name |
| 150334692 | CV1171188 | single nucleotide variant | NM_176869.3(PPA2):c.*262A>G | not provided [RCV001540187] | benign | 4 | 105369463 | 105369463 | Human | | name |
| 150424543 | CV1183415 | single nucleotide variant | NM_176869.3(PPA2):c.*125C>T | not provided [RCV001556807] | likely benign | 4 | 105369600 | 105369600 | Human | | name |
| 150433104 | CV1203553 | duplication | NM_176869.3(PPA2):c.*270dup | not provided [RCV001581708] | likely benign | 4 | 105369454 | 105369455 | Human | | name |
| 126744747 | CV1019896 | single nucleotide variant | NM_176869.3(PPA2):c.939+1G>T | Sudden cardiac failure, infantile [RCV001337098] | pathogenic | 4 | 105386566 | 105386566 | Human | | name |
| 150430290 | CV1036558 | single nucleotide variant | NM_176869.3(PPA2):c.655+5G>A | Sudden cardiac failure, alcohol-induced [RCV001638076]|Sudden cardiac failure, infantile [RCV001638075] | uncertain significance | 4 | 105424191 | 105424191 | Human | 2 | name |
| 150418305 | CV1179784 | single nucleotide variant | NM_176869.3(PPA2):c.441+5C>G | not provided [RCV001550543] | benign|likely benign | 4 | 105446378 | 105446378 | Human | | name |
| 150544941 | CV1305799 | single nucleotide variant | NM_176869.3(PPA2):c.528+1G>T | not provided [RCV001774784] | uncertain significance | 4 | 105437949 | 105437949 | Human | | name |
| 151352998 | CV1326532 | single nucleotide variant | NM_176869.3(PPA2):c.939+2T>C | not provided [RCV001815933] | likely pathogenic|conflicting interpretations of pathogenicity | 4 | 105386565 | 105386565 | Human | | name |
| 151831783 | CV1354526 | single nucleotide variant | NM_176869.3(PPA2):c.869+5G>T | not provided [RCV001880377] | uncertain significance | 4 | 105396244 | 105396244 | Human | | name |
| 151877219 | CV1368799 | single nucleotide variant | NM_176869.3(PPA2):c.441+1G>C | not provided [RCV001999082] | uncertain significance | 4 | 105446382 | 105446382 | Human | | name |
| 151843184 | CV1379841 | single nucleotide variant | NM_176869.3(PPA2):c.321+5C>T | not provided [RCV001936366] | uncertain significance | 4 | 105449345 | 105449345 | Human | | name |
| 151802571 | CV1405002 | single nucleotide variant | NM_176869.3(PPA2):c.869+4A>T | not provided [RCV001932446] | uncertain significance | 4 | 105396245 | 105396245 | Human | | name |
| 151844253 | CV1408868 | single nucleotide variant | NM_176869.3(PPA2):c.441+6A>G | not provided [RCV002015703] | uncertain significance | 4 | 105446377 | 105446377 | Human | | name |
| 151851242 | CV1465112 | single nucleotide variant | NM_176869.3(PPA2):c.976+3A>G | not provided [RCV001995989] | uncertain significance | 4 | 105370834 | 105370834 | Human | | name |
| 151871654 | CV1477139 | single nucleotide variant | NM_176869.3(PPA2):c.442-6T>A | not provided [RCV001906565] | likely benign|uncertain significance | 4 | 105438042 | 105438042 | Human | | name |
| 151766233 | CV1495965 | single nucleotide variant | NM_176869.3(PPA2):c.321+6G>A | not provided [RCV001863634] | uncertain significance | 4 | 105449344 | 105449344 | Human | | name |
| 152053583 | CV1523747 | deletion | NM_176869.3(PPA2):c.442-7del | PPA2-related disorder [RCV004543830]|not provided [RCV002127517] | benign|likely benign | 4 | 105438043 | 105438043 | Human | 2 | name , trait , alternate_id |
| 152137077 | CV1537987 | single nucleotide variant | NM_176869.3(PPA2):c.784-5G>A | not provided [RCV002177563] | likely benign | 4 | 105396339 | 105396339 | Human | | name |
| 152025831 | CV1586570 | single nucleotide variant | NM_176869.3(PPA2):c.321+9A>C | not provided [RCV002184950] | likely benign | 4 | 105449341 | 105449341 | Human | | name |
| 152027667 | CV1629041 | single nucleotide variant | NM_176869.3(PPA2):c.157+9C>G | not provided [RCV002104970] | likely benign | 4 | 105473885 | 105473885 | Human | | name |
| 156402878 | CV1992900 | single nucleotide variant | NM_176869.3(PPA2):c.321+8T>C | not provided [RCV002657735] | likely benign | 4 | 105449342 | 105449342 | Human | | name |
| 156082890 | CV2012074 | single nucleotide variant | NM_176869.3(PPA2):c.976+8A>G | not provided [RCV002706047] | likely benign | 4 | 105370829 | 105370829 | Human | | name |
| 156288667 | CV2068685 | single nucleotide variant | NM_176869.3(PPA2):c.268-5T>C | not provided [RCV002856658] | likely benign | 4 | 105449408 | 105449408 | Human | | name |
| 156035741 | CV2089381 | single nucleotide variant | NM_176869.3(PPA2):c.939+7G>A | not provided [RCV002867238] | likely benign | 4 | 105386560 | 105386560 | Human | | name |
| 156033728 | CV2182346 | single nucleotide variant | NM_176869.3(PPA2):c.869+1G>C | not provided [RCV003036293] | uncertain significance | 4 | 105396248 | 105396248 | Human | | name |
| 156276001 | CV2255732 | single nucleotide variant | NM_176869.3(PPA2):c.322-5C>A | Inborn genetic diseases [RCV002792779] | uncertain significance | 4 | 105446507 | 105446507 | Human | 1 | name |
| 156035172 | CV2282956 | single nucleotide variant | NM_176869.3(PPA2):c.528+1G>A | Inborn genetic diseases [RCV002845676] | likely pathogenic | 4 | 105437949 | 105437949 | Human | 1 | name |
| 405066174 | CV2937268 | single nucleotide variant | NM_176869.3(PPA2):c.976+9T>C | not provided [RCV003663699] | likely benign | 4 | 105370828 | 105370828 | Human | | name |
| 405132021 | CV2950000 | single nucleotide variant | NM_176869.3(PPA2):c.940-4C>T | not provided [RCV003672492] | likely benign | 4 | 105370877 | 105370877 | Human | | name |
| 405093143 | CV3022584 | duplication | NM_176869.3(PPA2):c.442-7dup | PPA2-related disorder [RCV004539070]|not provided [RCV003699878] | benign|likely benign | 4 | 105438042 | 105438043 | Human | 2 | name , trait , alternate_id |
| 405095102 | CV3134748 | single nucleotide variant | NM_176869.3(PPA2):c.940-5T>C | not provided [RCV003835094] | likely benign | 4 | 105370878 | 105370878 | Human | | name |
| 405198051 | CV3146818 | single nucleotide variant | NM_176869.3(PPA2):c.442-9A>T | not provided [RCV003844173] | likely benign | 4 | 105438045 | 105438045 | Human | | name |
| 15183664 | CV777401 | single nucleotide variant | NM_176869.3(PPA2):c.322-3T>C | not provided [RCV000952518]|not specified [RCV005405431] | likely benign | 4 | 105446505 | 105446505 | Human | | name |
| 15116782 | CV779011 | single nucleotide variant | NM_176869.3(PPA2):c.222+4T>A | not provided [RCV000962093]|not specified [RCV001701266] | benign|likely benign | 4 | 105456677 | 105456677 | Human | | name |
| 150414570 | CV1176414 | single nucleotide variant | NM_176869.3(PPA2):c.783+76T>G | not provided [RCV001548190] | likely benign | 4 | 105398961 | 105398961 | Human | | name |
| 150423946 | CV1183416 | single nucleotide variant | NM_176869.3(PPA2):c.869+21T>C | not provided [RCV001556003] | likely benign | 4 | 105396228 | 105396228 | Human | | name |
| 150428707 | CV1186683 | single nucleotide variant | NM_176869.3(PPA2):c.656-68A>G | not provided [RCV001562619] | likely benign | 4 | 105399232 | 105399232 | Human | | name |
| 150429014 | CV1186684 | single nucleotide variant | NM_176869.3(PPA2):c.442-35T>A | not provided [RCV001563039] | likely benign | 4 | 105438071 | 105438071 | Human | | name |
| 150404935 | CV1193409 | single nucleotide variant | NM_176869.3(PPA2):c.783+39A>G | not provided [RCV001571399] | likely benign | 4 | 105398998 | 105398998 | Human | | name |
| 150421698 | CV1197166 | single nucleotide variant | NM_176869.3(PPA2):c.939+17C>T | not provided [RCV001578145] | benign|likely benign | 4 | 105386550 | 105386550 | Human | | name |
| 150509074 | CV1214207 | single nucleotide variant | NM_176869.3(PPA2):c.656-78C>G | not provided [RCV001596728] | benign | 4 | 105399242 | 105399242 | Human | | name |
| 150474705 | CV1234490 | single nucleotide variant | NM_176869.3(PPA2):c.940-79C>T | not provided [RCV001651810] | benign | 4 | 105370952 | 105370952 | Human | | name |
| 150493620 | CV1238705 | single nucleotide variant | NM_176869.3(PPA2):c.940-91C>G | not provided [RCV001655249] | benign | 4 | 105370964 | 105370964 | Human | | name |
| 150472070 | CV1252186 | single nucleotide variant | NM_176869.3(PPA2):c.322-37A>G | not provided [RCV001671387] | benign | 4 | 105446539 | 105446539 | Human | | name |
| 150496865 | CV1271630 | single nucleotide variant | NM_176869.3(PPA2):c.268-79T>C | not provided [RCV001688931] | benign | 4 | 105449482 | 105449482 | Human | | name |
| 150477269 | CV1272022 | single nucleotide variant | NM_176869.3(PPA2):c.268-19G>T | not provided [RCV001696307] | benign | 4 | 105449422 | 105449422 | Human | | name |
| 151233980 | CV1317950 | single nucleotide variant | NM_176869.3(PPA2):c.442-16A>T | Sudden cardiac failure, infantile [RCV001789585]|not provided [RCV002074113] | benign | 4 | 105438052 | 105438052 | Human | 1 | name |
| 152108374 | CV1520012 | deletion | NM_176869.3(PPA2):c.268-15del | not provided [RCV002134160] | benign | 4 | 105449418 | 105449418 | Human | | name |
| 152112728 | CV1541971 | single nucleotide variant | NM_176869.3(PPA2):c.442-15A>T | not provided [RCV002116766] | benign | 4 | 105438051 | 105438051 | Human | | name |
| 152072196 | CV1544232 | single nucleotide variant | NM_176869.3(PPA2):c.267+18T>C | not provided [RCV002169443] | likely benign | 4 | 105453580 | 105453580 | Human | | name |
| 152044962 | CV1556042 | single nucleotide variant | NM_176869.3(PPA2):c.870-20C>T | not provided [RCV002206821] | likely benign | 4 | 105386656 | 105386656 | Human | | name |
| 152129510 | CV1583909 | single nucleotide variant | NM_176869.3(PPA2):c.441+14T>G | not provided [RCV002199134] | benign | 4 | 105446369 | 105446369 | Human | | name |
| 152113358 | CV1586038 | single nucleotide variant | NM_176869.3(PPA2):c.268-20T>C | not provided [RCV002153346] | likely benign | 4 | 105449423 | 105449423 | Human | | name |
| 152086556 | CV1589801 | single nucleotide variant | NM_176869.3(PPA2):c.157+14G>A | not provided [RCV002193709] | likely benign | 4 | 105473880 | 105473880 | Human | | name |
| 152076878 | CV1592012 | single nucleotide variant | NM_176869.3(PPA2):c.442-17T>A | not provided [RCV002112225] | benign | 4 | 105438053 | 105438053 | Human | | name |
| 152041278 | CV1617858 | single nucleotide variant | NM_176869.3(PPA2):c.321+12C>T | not provided [RCV002206377] | likely benign | 4 | 105449338 | 105449338 | Human | | name |
| 152057424 | CV1618970 | single nucleotide variant | NM_176869.3(PPA2):c.157+13C>G | not provided [RCV002127949] | likely benign | 4 | 105473881 | 105473881 | Human | | name |
| 152088229 | CV1626120 | single nucleotide variant | NM_176869.3(PPA2):c.157+18G>T | not provided [RCV002131720] | likely benign | 4 | 105473876 | 105473876 | Human | | name |
| 152039051 | CV1644339 | single nucleotide variant | NM_176869.3(PPA2):c.529-17T>A | not provided [RCV002165412] | likely benign | 4 | 105424339 | 105424339 | Human | | name |
| 152113167 | CV1644528 | single nucleotide variant | NM_176869.3(PPA2):c.528+19A>G | not provided [RCV002174588] | benign | 4 | 105437931 | 105437931 | Human | | name |
| 152063330 | CV1644709 | single nucleotide variant | NM_176869.3(PPA2):c.157+20T>C | not provided [RCV002147052] | likely benign | 4 | 105473874 | 105473874 | Human | | name |
| 152093976 | CV1648197 | single nucleotide variant | NM_176869.3(PPA2):c.977-15C>T | not provided [RCV002114455] | likely benign | 4 | 105369768 | 105369768 | Human | | name |
| 156158851 | CV1967775 | single nucleotide variant | NM_176869.3(PPA2):c.442-16A>G | not provided [RCV002594395] | likely benign | 4 | 105438052 | 105438052 | Human | | name |
| 156417365 | CV1970355 | single nucleotide variant | NM_176869.3(PPA2):c.223-20C>T | not provided [RCV002590152] | likely benign | 4 | 105453662 | 105453662 | Human | | name |
| 156348502 | CV1970698 | single nucleotide variant | NM_176869.3(PPA2):c.267+19A>G | not provided [RCV002601653] | likely benign | 4 | 105453579 | 105453579 | Human | | name |
| 156393158 | CV1983362 | single nucleotide variant | NM_176869.3(PPA2):c.223-16A>G | not provided [RCV002604863] | likely benign | 4 | 105453658 | 105453658 | Human | | name |
| 156404635 | CV1993432 | deletion | NM_176869.3(PPA2):c.528+15del | not provided [RCV002658099] | likely benign | 4 | 105437935 | 105437935 | Human | | name |
| 156113059 | CV1998627 | single nucleotide variant | NM_176869.3(PPA2):c.783+13A>G | not provided [RCV002640019] | likely benign | 4 | 105399024 | 105399024 | Human | | name |
| 156383365 | CV2005212 | single nucleotide variant | NM_176869.3(PPA2):c.870-14C>A | not provided [RCV002653812] | likely benign | 4 | 105386650 | 105386650 | Human | | name |
| 156125693 | CV2012374 | single nucleotide variant | NM_176869.3(PPA2):c.870-14C>G | not provided [RCV002696210] | likely benign | 4 | 105386650 | 105386650 | Human | | name |
| 156318548 | CV2025160 | single nucleotide variant | NM_176869.3(PPA2):c.656-12T>C | not provided [RCV002716945] | likely benign | 4 | 105399176 | 105399176 | Human | | name |
| 156020415 | CV2040569 | single nucleotide variant | NM_176869.3(PPA2):c.267+20T>G | not provided [RCV002795557] | likely benign | 4 | 105453578 | 105453578 | Human | | name |
| 156173389 | CV2053466 | single nucleotide variant | NM_176869.3(PPA2):c.977-16C>T | not provided [RCV002802018] | likely benign | 4 | 105369769 | 105369769 | Human | | name |
| 156308921 | CV2063258 | single nucleotide variant | NM_176869.3(PPA2):c.322-12T>C | not provided [RCV002834004] | likely benign | 4 | 105446514 | 105446514 | Human | | name |
| 155967868 | CV2082882 | single nucleotide variant | NM_176869.3(PPA2):c.157+11C>T | not provided [RCV002881342] | likely benign | 4 | 105473883 | 105473883 | Human | | name |
| 156076897 | CV2160461 | single nucleotide variant | NM_176869.3(PPA2):c.529-16T>C | not provided [RCV003020220] | likely benign | 4 | 105424338 | 105424338 | Human | | name |
| 156055554 | CV2165542 | single nucleotide variant | NM_176869.3(PPA2):c.976+14T>C | not provided [RCV003019544] | likely benign | 4 | 105370823 | 105370823 | Human | | name |
| 156009240 | CV2175808 | single nucleotide variant | NM_176869.3(PPA2):c.977-18T>C | not provided [RCV003035150] | likely benign | 4 | 105369771 | 105369771 | Human | | name |
| 156338251 | CV2178370 | single nucleotide variant | NM_176869.3(PPA2):c.939+18A>G | not provided [RCV003047598] | likely benign | 4 | 105386549 | 105386549 | Human | | name |
| 156293024 | CV2183105 | single nucleotide variant | NM_176869.3(PPA2):c.322-16T>C | not provided [RCV003027758] | likely benign | 4 | 105446518 | 105446518 | Human | | name |
| 156040580 | CV2187894 | single nucleotide variant | NM_176869.3(PPA2):c.222+14T>G | not provided [RCV003036552] | likely benign | 4 | 105456667 | 105456667 | Human | | name |
| 405223155 | CV2919003 | single nucleotide variant | NM_176869.3(PPA2):c.529-13T>C | not provided [RCV003568740] | likely benign | 4 | 105424335 | 105424335 | Human | | name |
| 402511816 | CV2948378 | single nucleotide variant | NM_176869.3(PPA2):c.870-11T>G | not provided [RCV003662630] | likely benign | 4 | 105386647 | 105386647 | Human | | name |
| 405077310 | CV3008101 | single nucleotide variant | NM_176869.3(PPA2):c.441+10T>A | not provided [RCV003716839] | likely benign | 4 | 105446373 | 105446373 | Human | | name |
| 405138149 | CV3130770 | single nucleotide variant | NM_176869.3(PPA2):c.321+11A>G | not provided [RCV003839004] | likely benign | 4 | 105449339 | 105449339 | Human | | name |
| 405072154 | CV3140377 | single nucleotide variant | NM_176869.3(PPA2):c.222+16G>A | not provided [RCV003833532] | likely benign | 4 | 105456665 | 105456665 | Human | | name |
| 405207708 | CV3145596 | single nucleotide variant | NM_176869.3(PPA2):c.869+20A>G | not provided [RCV003845326] | likely benign | 4 | 105396229 | 105396229 | Human | | name |
| 405056217 | CV3147704 | single nucleotide variant | NM_176869.3(PPA2):c.267+10A>G | not provided [RCV003849934] | likely benign | 4 | 105453588 | 105453588 | Human | | name |
| 405145415 | CV3155875 | deletion | NM_176869.3(PPA2):c.976+14del | not provided [RCV003855917] | benign | 4 | 105370823 | 105370823 | Human | | name |
| 405136378 | CV3164347 | duplication | NM_176869.3(PPA2):c.442-17dup | not provided [RCV003855142] | benign | 4 | 105438052 | 105438053 | Human | | name |
| 597930534 | CV3745858 | single nucleotide variant | NM_176869.3(PPA2):c.655+11T>A | not provided [RCV005075843] | likely benign | 4 | 105424185 | 105424185 | Human | | name |
| 597928460 | CV3749139 | single nucleotide variant | NM_176869.3(PPA2):c.322-11G>A | not provided [RCV005075595] | likely benign | 4 | 105446513 | 105446513 | Human | | name |
| 597868780 | CV3749708 | single nucleotide variant | NM_176869.3(PPA2):c.322-19C>T | not provided [RCV005068389] | likely benign | 4 | 105446521 | 105446521 | Human | | name |
| 597965306 | CV3797053 | single nucleotide variant | NM_176869.3(PPA2):c.977-15C>A | not provided [RCV005140013] | likely benign | 4 | 105369768 | 105369768 | Human | | name |
| 597936807 | CV3807719 | single nucleotide variant | NM_176869.3(PPA2):c.940-16C>T | not provided [RCV005158098] | likely benign | 4 | 105370889 | 105370889 | Human | | name |
| 150339022 | CV1167303 | deletion | NM_176869.3(PPA2):c.976+315del | not provided [RCV001533987] | benign | 4 | 105370522 | 105370522 | Human | | name |
| 150338890 | CV1167304 | single nucleotide variant | NM_176869.3(PPA2):c.940-319A>G | not provided [RCV001533839] | benign | 4 | 105371192 | 105371192 | Human | | name |
| 150335920 | CV1171189 | single nucleotide variant | NM_176869.3(PPA2):c.939+291C>T | not provided [RCV001540762] | benign | 4 | 105386276 | 105386276 | Human | | name |
| 150336519 | CV1171190 | single nucleotide variant | NM_176869.3(PPA2):c.656-211A>G | not provided [RCV001541025] | benign | 4 | 105399375 | 105399375 | Human | | name |
| 150333693 | CV1171191 | single nucleotide variant | NM_176869.3(PPA2):c.268-314T>C | not provided [RCV001539619] | benign | 4 | 105449717 | 105449717 | Human | | name |
| 150406186 | CV1176415 | single nucleotide variant | NM_176869.3(PPA2):c.442-199G>A | not provided [RCV001545193] | likely benign | 4 | 105438235 | 105438235 | Human | | name |
| 150421594 | CV1179782 | single nucleotide variant | NM_176869.3(PPA2):c.529-159C>T | not provided [RCV001552087] | likely benign | 4 | 105424481 | 105424481 | Human | | name |
| 150422261 | CV1179783 | single nucleotide variant | NM_176869.3(PPA2):c.442-249C>T | not provided [RCV001552458] | likely benign | 4 | 105438285 | 105438285 | Human | | name |
| 150421902 | CV1179786 | single nucleotide variant | NM_176869.3(PPA2):c.157+113C>T | not provided [RCV001552226] | likely benign | 4 | 105473781 | 105473781 | Human | | name |
| 150423824 | CV1183417 | single nucleotide variant | NM_176869.3(PPA2):c.222+159A>G | not provided [RCV001555848] | likely benign | 4 | 105456522 | 105456522 | Human | | name |
| 150427576 | CV1186682 | single nucleotide variant | NM_176869.3(PPA2):c.976+231C>T | not provided [RCV001561107] | likely benign | 4 | 105370606 | 105370606 | Human | | name |
| 150413674 | CV1190125 | single nucleotide variant | NM_176869.3(PPA2):c.157+317C>G | not provided [RCV001567274] | likely benign | 4 | 105473577 | 105473577 | Human | | name |
| 150421510 | CV1197167 | single nucleotide variant | NM_176869.3(PPA2):c.870-255G>C | not provided [RCV001578064] | likely benign | 4 | 105386891 | 105386891 | Human | | name |
| 150419657 | CV1197168 | single nucleotide variant | NM_176869.3(PPA2):c.529-335A>G | not provided [RCV001577273] | likely benign | 4 | 105424657 | 105424657 | Human | | name |
| 150413495 | CV1197169 | duplication | NM_176869.3(PPA2):c.321+281dup | not provided [RCV001574636] | likely benign | 4 | 105449068 | 105449069 | Human | | name |
| 150416635 | CV1197170 | single nucleotide variant | NM_176869.3(PPA2):c.157+261C>T | not provided [RCV001575965] | likely benign | 4 | 105473633 | 105473633 | Human | | name |
| 150460413 | CV1205772 | single nucleotide variant | NM_176869.3(PPA2):c.939+183T>C | not provided [RCV001586729] | likely benign | 4 | 105386384 | 105386384 | Human | | name |
| 150462009 | CV1206530 | duplication | NM_176869.3(PPA2):c.441+249dup | not provided [RCV001586931] | likely benign | 4 | 105446123 | 105446124 | Human | | name |
| 150483538 | CV1222318 | single nucleotide variant | NM_176869.3(PPA2):c.939+156A>G | not provided [RCV001617320] | benign | 4 | 105386411 | 105386411 | Human | | name |
| 150505680 | CV1222947 | deletion | NM_176869.3(PPA2):c.441+259del | not provided [RCV001621882] | benign | 4 | 105446124 | 105446124 | Human | | name |
| 150502874 | CV1223328 | single nucleotide variant | NM_176869.3(PPA2):c.158-125G>A | not provided [RCV001621262] | benign | 4 | 105456870 | 105456870 | Human | | name |
| 150498824 | CV1224485 | single nucleotide variant | NM_176869.3(PPA2):c.656-328A>C | not provided [RCV001620315] | benign | 4 | 105399492 | 105399492 | Human | | name |
| 150517102 | CV1227839 | single nucleotide variant | NM_176869.3(PPA2):c.267+177A>T | not provided [RCV001639642] | benign | 4 | 105453421 | 105453421 | Human | | name |
| 150512930 | CV1228843 | single nucleotide variant | NM_176869.3(PPA2):c.656-146A>G | not provided [RCV001637685] | benign | 4 | 105399310 | 105399310 | Human | | name |
| 150509017 | CV1229786 | single nucleotide variant | NM_176869.3(PPA2):c.322-138C>A | not provided [RCV001636365] | benign | 4 | 105446640 | 105446640 | Human | | name |
| 150434898 | CV1231207 | duplication | NM_176869.3(PPA2):c.940-193dup | not provided [RCV001643851] | benign | 4 | 105371065 | 105371066 | Human | | name |
| 150487414 | CV1237329 | single nucleotide variant | NM_176869.3(PPA2):c.976+170C>T | not provided [RCV001654178] | benign | 4 | 105370667 | 105370667 | Human | | name |
| 150465474 | CV1240246 | single nucleotide variant | NM_176869.3(PPA2):c.656-125C>T | not provided [RCV001650007] | benign | 4 | 105399289 | 105399289 | Human | | name |
| 150505936 | CV1242090 | single nucleotide variant | NM_176869.3(PPA2):c.940-278C>T | not provided [RCV001658443] | benign | 4 | 105371151 | 105371151 | Human | | name |
| 150485389 | CV1250217 | single nucleotide variant | NM_176869.3(PPA2):c.939+286A>G | not provided [RCV001673830] | benign | 4 | 105386281 | 105386281 | Human | | name |
| 150499573 | CV1254380 | single nucleotide variant | NM_176869.3(PPA2):c.869+290G>A | not provided [RCV001676554] | benign | 4 | 105395959 | 105395959 | Human | | name |
| 150470093 | CV1259767 | single nucleotide variant | NM_176869.3(PPA2):c.157+259G>A | not provided [RCV001684069] | benign | 4 | 105473635 | 105473635 | Human | | name |
| 150490378 | CV1267601 | single nucleotide variant | NM_176869.3(PPA2):c.441+179A>C | not provided [RCV001687625] | benign | 4 | 105446204 | 105446204 | Human | | name |
| 150456491 | CV1269085 | deletion | NM_176869.3(PPA2):c.976+246del | not provided [RCV001692909] | benign | 4 | 105370591 | 105370591 | Human | | name |
| 150459132 | CV1269754 | single nucleotide variant | NM_176869.3(PPA2):c.222+184A>G | not provided [RCV001693294] | benign | 4 | 105456497 | 105456497 | Human | | name |
| 150447175 | CV1270271 | single nucleotide variant | NM_176869.3(PPA2):c.268-256T>A | not provided [RCV001691406] | benign | 4 | 105449659 | 105449659 | Human | | name |
| 150463451 | CV1273155 | single nucleotide variant | NM_176869.3(PPA2):c.157+125C>T | not provided [RCV001693912] | benign | 4 | 105473769 | 105473769 | Human | | name |
| 150463459 | CV1276228 | single nucleotide variant | NM_176869.3(PPA2):c.442-200T>C | not provided [RCV001710173] | benign | 4 | 105438236 | 105438236 | Human | | name |
| 150475741 | CV1279119 | single nucleotide variant | NM_176869.3(PPA2):c.976+312A>G | not provided [RCV001713884] | benign | 4 | 105370525 | 105370525 | Human | | name |
| 150497939 | CV1281658 | single nucleotide variant | NM_176869.3(PPA2):c.158-100C>G | not provided [RCV001717932] | benign | 4 | 105456845 | 105456845 | Human | | name |
| 150487739 | CV1283884 | single nucleotide variant | NM_176869.3(PPA2):c.655+228T>C | not provided [RCV001716000] | benign | 4 | 105423968 | 105423968 | Human | | name |
| 150436855 | CV1286440 | single nucleotide variant | NM_176869.3(PPA2):c.656-268C>T | not provided [RCV001724518] | benign | 4 | 105399432 | 105399432 | Human | | name |
| 150436871 | CV1286444 | single nucleotide variant | NM_176869.3(PPA2):c.321+249A>G | not provided [RCV001724522] | benign | 4 | 105449101 | 105449101 | Human | | name |
| 150436885 | CV1286447 | single nucleotide variant | NM_176869.3(PPA2):c.976+232G>A | not provided [RCV001724525] | benign | 4 | 105370605 | 105370605 | Human | | name |
| 150331463 | CV1163439 | microsatellite | NM_176869.3(PPA2):c.784-19TTTG[2] | Sudden cardiac failure, infantile [RCV001789416]|not provided [RCV001527812] | benign | 4 | 105396342 | 105396345 | Human | | name |
| 156390358 | CV1996195 | microsatellite | NM_176869.3(PPA2):c.158-22TTGT[2] | not provided [RCV002654317] | likely benign | 4 | 105456756 | 105456759 | Human | | name |
| 405262120 | CV3184860 | microsatellite | NM_176869.3(PPA2):c.528+5_528+8del | Sudden cardiac failure, alcohol-induced [RCV003885433]|not provided [RCV004787078] | uncertain significance | 4 | 105437942 | 105437945 | Human | | name |
| 597970979 | CV3750588 | microsatellite | NM_176869.3(PPA2):c.158-31TGTTT[2] | not provided [RCV005084332] | likely benign | 4 | 105456762 | 105456766 | Human | | name |
| 15180972 | CV764247 | single nucleotide variant | NM_176869.3(PPA2):c.6C>T (p.Ser2=) | not provided [RCV000930015] | benign|likely benign | 4 | 105474045 | 105474045 | Human | | name |
| 150494334 | CV1226139 | single nucleotide variant | NM_176869.3(PPA2):c.27C>T (p.Arg9=) | Inborn genetic diseases [RCV005262524]|Sudden cardiac failure, infantile [RCV001789451]|not provided [RCV001619358]|not specified [RCV005405681] | benign|likely benign | 4 | 105474024 | 105474024 | Human | 2 | name |
| 152078480 | CV1533118 | single nucleotide variant | NM_176869.3(PPA2):c.27C>G (p.Arg9=) | not provided [RCV002092541] | likely benign | 4 | 105474024 | 105474024 | Human | | name |
| 152142279 | CV1533126 | single nucleotide variant | NM_176869.3(PPA2):c.21G>C (p.Leu7=) | not provided [RCV002156927] | likely benign | 4 | 105474030 | 105474030 | Human | | name |
| 152041252 | CV1568379 | single nucleotide variant | NM_176869.3(PPA2):c.22C>T (p.Leu8=) | not provided [RCV002107774] | likely benign | 4 | 105474029 | 105474029 | Human | | name |
| 156057778 | CV2024013 | single nucleotide variant | NM_176869.3(PPA2):c.19C>T (p.Leu7=) | not provided [RCV002736729] | likely benign | 4 | 105474032 | 105474032 | Human | | name |
| 405079739 | CV3166727 | single nucleotide variant | NM_176869.3(PPA2):c.13C>T (p.Leu5=) | not provided [RCV003851501] | likely benign | 4 | 105474038 | 105474038 | Human | | name |
| 597927966 | CV3749077 | single nucleotide variant | NM_176869.3(PPA2):c.18G>A (p.Arg6=) | not provided [RCV005075533] | likely benign | 4 | 105474033 | 105474033 | Human | | name |
| 597936759 | CV3777720 | single nucleotide variant | NM_176869.3(PPA2):c.10C>T (p.Leu4=) | not provided [RCV005132633] | likely benign | 4 | 105474041 | 105474041 | Human | | name |
| 151840820 | CV1367894 | single nucleotide variant | NM_176869.3(PPA2):c.6C>A (p.Ser2Arg) | Inborn genetic diseases [RCV005262575]|not provided [RCV001902816] | likely benign|uncertain significance | 4 | 105474045 | 105474045 | Human | 1 | name |
| 151818321 | CV1446073 | deletion | NM_176869.3(PPA2):c.13del (p.Leu5fs) | not provided [RCV001975480] | uncertain significance | 4 | 105474038 | 105474038 | Human | | name |
| 152171434 | CV1552746 | inversion | NM_176869.3(PPA2):c.442-16_442-15inv | not provided [RCV002143445] | likely benign | 4 | 105438051 | 105438052 | Human | | name |
| 152109525 | CV1617478 | deletion | NM_176869.3(PPA2):c.784-20_784-16del | not provided [RCV002116367] | likely benign | 4 | 105396350 | 105396354 | Human | | name |
| 152156538 | CV1629741 | single nucleotide variant | NM_176869.3(PPA2):c.72A>G (p.Ala24=) | not provided [RCV002202735] | likely benign | 4 | 105473979 | 105473979 | Human | | name |
| 156408387 | CV1870004 | single nucleotide variant | NM_176869.3(PPA2):c.63G>C (p.Gly21=) | not provided [RCV003071247] | likely benign | 4 | 105473988 | 105473988 | Human | | name |
| 156207768 | CV1906047 | single nucleotide variant | NM_176869.3(PPA2):c.42C>A (p.Ala14=) | not provided [RCV003084470] | likely benign | 4 | 105474009 | 105474009 | Human | | name |
| 156112637 | CV1998600 | single nucleotide variant | NM_176869.3(PPA2):c.99C>T (p.Ala33=) | not provided [RCV002640003] | likely benign | 4 | 105473952 | 105473952 | Human | | name |
| 156227607 | CV2019491 | single nucleotide variant | NM_176869.3(PPA2):c.60G>A (p.Leu20=) | not provided [RCV002701239] | likely benign | 4 | 105473991 | 105473991 | Human | | name |
| 156001695 | CV2145911 | deletion | NM_176869.3(PPA2):c.268-21_268-20del | not provided [RCV002997054] | likely benign | 4 | 105449423 | 105449424 | Human | | name |
| 156268866 | CV2167911 | microsatellite | NM_176869.3(PPA2):c.940-20_940-17del | not provided [RCV003026914] | likely benign | 4 | 105370890 | 105370893 | Human | | name |
| 156264528 | CV2170082 | single nucleotide variant | NM_176869.3(PPA2):c.45T>G (p.Ala15=) | not provided [RCV003026770] | likely benign | 4 | 105474006 | 105474006 | Human | | name |
| 405116649 | CV2953365 | deletion | NM_176869.3(PPA2):c.268-23_268-20del | not provided [RCV003666990] | likely benign | 4 | 105449423 | 105449426 | Human | | name |
| 597857204 | CV3748139 | single nucleotide variant | NM_176869.3(PPA2):c.84G>A (p.Ser28=) | not provided [RCV005066961] | likely benign | 4 | 105473967 | 105473967 | Human | | name |
| 597941125 | CV3757342 | single nucleotide variant | NM_176869.3(PPA2):c.30G>C (p.Thr10=) | not provided [RCV005077528] | likely benign | 4 | 105474021 | 105474021 | Human | | name |
| 597920755 | CV3807978 | single nucleotide variant | NM_176869.3(PPA2):c.78C>T (p.Thr26=) | not provided [RCV005155686] | likely benign | 4 | 105473973 | 105473973 | Human | | name |
| 597894098 | CV3809954 | single nucleotide variant | NM_176869.3(PPA2):c.52C>T (p.Leu18=) | not provided [RCV005151675] | likely benign | 4 | 105473999 | 105473999 | Human | | name |
| 597935536 | CV3811353 | single nucleotide variant | NM_176869.3(PPA2):c.36C>T (p.Ala12=) | not provided [RCV005157868] | likely benign | 4 | 105474015 | 105474015 | Human | | name |
| 151736113 | CV1351321 | single nucleotide variant | NM_176869.3(PPA2):c.11T>C (p.Leu4Pro) | Inborn genetic diseases [RCV003348685]|not provided [RCV002021831] | uncertain significance | 4 | 105474040 | 105474040 | Human | 1 | name |
| 151817446 | CV1457003 | single nucleotide variant | NM_176869.3(PPA2):c.25C>T (p.Arg9Cys) | Inborn genetic diseases [RCV004040612]|not provided [RCV001900548] | uncertain significance | 4 | 105474026 | 105474026 | Human | 1 | name |
| 151877734 | CV1460228 | single nucleotide variant | NM_176869.3(PPA2):c.16C>G (p.Arg6Gly) | not provided [RCV002036462] | uncertain significance | 4 | 105474035 | 105474035 | Human | | name |
| 152142373 | CV1533158 | single nucleotide variant | NM_176869.3(PPA2):c.249A>C (p.Ala83=) | not provided [RCV002156938] | likely benign | 4 | 105453616 | 105453616 | Human | | name |
| 152116747 | CV1541030 | single nucleotide variant | NM_176869.3(PPA2):c.288A>T (p.Val96=) | not provided [RCV002197494] | likely benign | 4 | 105449383 | 105449383 | Human | | name |
| 152085953 | CV1573804 | single nucleotide variant | NM_176869.3(PPA2):c.195T>C (p.Asp65=) | not provided [RCV002149929] | likely benign | 4 | 105456708 | 105456708 | Human | | name |
| 152077592 | CV1612988 | single nucleotide variant | NM_176869.3(PPA2):c.252A>G (p.Arg84=) | not provided [RCV002075941] | likely benign | 4 | 105453613 | 105453613 | Human | | name |
| 152028706 | CV1639646 | single nucleotide variant | NM_176869.3(PPA2):c.117G>A (p.Glu39=) | not provided [RCV002085552] | likely benign | 4 | 105473934 | 105473934 | Human | | name |
| 152134107 | CV1646616 | single nucleotide variant | NM_176869.3(PPA2):c.174C>T (p.His58=) | not provided [RCV002137311] | likely benign | 4 | 105456729 | 105456729 | Human | | name |
| 156437144 | CV1936973 | single nucleotide variant | NM_176869.3(PPA2):c.10C>G (p.Leu4Val) | Inborn genetic diseases [RCV004961164]|not provided [RCV003106675] | uncertain significance | 4 | 105474041 | 105474041 | Human | 1 | name |
| 156131089 | CV1962710 | single nucleotide variant | NM_176869.3(PPA2):c.26G>T (p.Arg9Leu) | not provided [RCV002572232] | uncertain significance | 4 | 105474025 | 105474025 | Human | | name |
| 156330285 | CV1969904 | insertion | NM_176869.3(PPA2):c.442-16_442-15insT | not provided [RCV002600756] | likely benign | 4 | 105438051 | 105438052 | Human | | name |
| 156220750 | CV1995766 | single nucleotide variant | NM_176869.3(PPA2):c.246A>G (p.Lys82=) | not provided [RCV002667218] | likely benign | 4 | 105453619 | 105453619 | Human | | name |
| 155954462 | CV2014209 | single nucleotide variant | NM_176869.3(PPA2):c.162T>C (p.Asn54=) | not provided [RCV002686192] | likely benign | 4 | 105456741 | 105456741 | Human | | name |
| 156386343 | CV2125555 | single nucleotide variant | NM_176869.3(PPA2):c.23T>G (p.Leu8Arg) | Inborn genetic diseases [RCV005264299]|not provided [RCV002943514] | uncertain significance | 4 | 105474028 | 105474028 | Human | 1 | name |
| 405137446 | CV3130645 | single nucleotide variant | NM_176869.3(PPA2):c.150C>T (p.Leu50=) | not provided [RCV003838878] | likely benign | 4 | 105473901 | 105473901 | Human | | name |
| 597834644 | CV3831936 | single nucleotide variant | NM_176869.3(PPA2):c.234T>A (p.Ile78=) | not provided [RCV005170939] | likely benign | 4 | 105453631 | 105453631 | Human | | name |
| 15125654 | CV709115 | single nucleotide variant | NM_176869.3(PPA2):c.180T>C (p.Ile60=) | not provided [RCV000963614] | benign|likely benign | 4 | 105456723 | 105456723 | Human | | name |
| 150485153 | CV1262034 | single nucleotide variant | NM_176869.3(PPA2):c.477G>A (p.Thr159=) | not provided [RCV001686725]|not specified [RCV005405711] | benign | 4 | 105438001 | 105438001 | Human | | name |
| 150490086 | CV1267550 | deletion | NM_176869.3(PPA2):c.529-170_529-165del | not provided [RCV001687574] | benign | 4 | 105424487 | 105424492 | Human | | name |
| 150490089 | CV1274647 | single nucleotide variant | NM_176869.3(PPA2):c.558G>A (p.Val186=) | not provided [RCV001727957]|not specified [RCV001700641] | benign|likely benign | 4 | 105424293 | 105424293 | Human | | name |
| 151831648 | CV1373435 | single nucleotide variant | NM_176869.3(PPA2):c.47C>T (p.Ala16Val) | Inborn genetic diseases [RCV002550282]|not provided [RCV001901868] | uncertain significance | 4 | 105474004 | 105474004 | Human | 1 | name |
| 151779614 | CV1378672 | single nucleotide variant | NM_176869.3(PPA2):c.77C>T (p.Thr26Ile) | not provided [RCV001875234] | uncertain significance | 4 | 105473974 | 105473974 | Human | | name |
| 151790949 | CV1399948 | single nucleotide variant | NM_176869.3(PPA2):c.86G>A (p.Arg29His) | not provided [RCV001916813] | uncertain significance | 4 | 105473965 | 105473965 | Human | | name |
| 151796074 | CV1421465 | single nucleotide variant | NM_176869.3(PPA2):c.28A>T (p.Thr10Ser) | not provided [RCV001917273] | uncertain significance | 4 | 105474023 | 105474023 | Human | | name |
| 151824683 | CV1425006 | single nucleotide variant | NM_176869.3(PPA2):c.82T>C (p.Ser28Pro) | not provided [RCV001901217] | uncertain significance | 4 | 105473969 | 105473969 | Human | | name |
| 151780958 | CV1468805 | single nucleotide variant | NM_176869.3(PPA2):c.80G>A (p.Gly27Glu) | Inborn genetic diseases [RCV002548775]|not provided [RCV002026254] | uncertain significance | 4 | 105473971 | 105473971 | Human | 1 | name |
| 151762648 | CV1499220 | single nucleotide variant | NM_176869.3(PPA2):c.50G>A (p.Cys17Tyr) | not provided [RCV001863283] | uncertain significance | 4 | 105474001 | 105474001 | Human | | name |
| 152081832 | CV1551769 | single nucleotide variant | NM_176869.3(PPA2):c.426T>C (p.Tyr142=) | not provided [RCV002092949] | likely benign | 4 | 105446398 | 105446398 | Human | | name |
| 152147404 | CV1558762 | single nucleotide variant | NM_176869.3(PPA2):c.432C>A (p.Thr144=) | not provided [RCV002157642] | likely benign | 4 | 105446392 | 105446392 | Human | | name |
| 152158503 | CV1564426 | single nucleotide variant | NM_176869.3(PPA2):c.390G>A (p.Ala130=) | not provided [RCV002140519] | likely benign | 4 | 105446434 | 105446434 | Human | | name |
| 152055754 | CV1610186 | single nucleotide variant | NM_176869.3(PPA2):c.837T>C (p.Leu279=) | not provided [RCV002167407] | likely benign | 4 | 105396281 | 105396281 | Human | | name |
| 152110297 | CV1617669 | single nucleotide variant | NM_176869.3(PPA2):c.375G>A (p.Lys125=) | not provided [RCV002116459] | likely benign | 4 | 105446449 | 105446449 | Human | | name |
| 152031571 | CV1629183 | single nucleotide variant | NM_176869.3(PPA2):c.336G>A (p.Glu112=) | not provided [RCV002106189] | likely benign | 4 | 105446488 | 105446488 | Human | | name |
| 156436760 | CV1940333 | single nucleotide variant | NM_176869.3(PPA2):c.71C>T (p.Ala24Val) | not provided [RCV003106284] | uncertain significance | 4 | 105473980 | 105473980 | Human | | name |
| 156348616 | CV1954919 | single nucleotide variant | NM_176869.3(PPA2):c.615T>C (p.Ile205=) | not provided [RCV002580899] | likely benign | 4 | 105424236 | 105424236 | Human | | name |
| 156399492 | CV1982137 | single nucleotide variant | NM_176869.3(PPA2):c.648G>A (p.Lys216=) | not provided [RCV002635833] | likely benign | 4 | 105424203 | 105424203 | Human | | name |
| 155940540 | CV1996132 | single nucleotide variant | NM_176869.3(PPA2):c.894C>T (p.Ser298=) | not provided [RCV002685431] | likely benign | 4 | 105386612 | 105386612 | Human | | name |
| 156096014 | CV2012846 | single nucleotide variant | NM_176869.3(PPA2):c.714T>C (p.Phe238=) | not provided [RCV002706489] | likely benign | 4 | 105399106 | 105399106 | Human | | name |
| 156352067 | CV2015295 | single nucleotide variant | NM_176869.3(PPA2):c.768A>G (p.Gly256=) | not provided [RCV002720255] | likely benign | 4 | 105399052 | 105399052 | Human | | name |
| 155916025 | CV2022039 | single nucleotide variant | NM_176869.3(PPA2):c.35C>T (p.Ala12Val) | Inborn genetic diseases [RCV002727135]|not provided [RCV002727134] | uncertain significance | 4 | 105474016 | 105474016 | Human | 1 | name |
| 156175951 | CV2023018 | single nucleotide variant | NM_176869.3(PPA2):c.687T>A (p.Gly229=) | not provided [RCV002765464] | likely benign | 4 | 105399133 | 105399133 | Human | | name |
| 156309553 | CV2063304 | single nucleotide variant | NM_176869.3(PPA2):c.37C>T (p.Pro13Ser) | not provided [RCV002834039] | uncertain significance | 4 | 105474014 | 105474014 | Human | | name |
| 156264091 | CV2128926 | single nucleotide variant | NM_176869.3(PPA2):c.62G>C (p.Gly21Ala) | not provided [RCV002933989] | uncertain significance | 4 | 105473989 | 105473989 | Human | | name |
| 156330044 | CV2161315 | single nucleotide variant | NM_176869.3(PPA2):c.945A>G (p.Ser315=) | not provided [RCV003029716] | likely benign | 4 | 105370868 | 105370868 | Human | | name |
| 156051745 | CV2165274 | single nucleotide variant | NM_176869.3(PPA2):c.978G>A (p.Glu326=) | not provided [RCV003019419] | likely benign | 4 | 105369752 | 105369752 | Human | | name |
| 156026667 | CV2185624 | single nucleotide variant | NM_176869.3(PPA2):c.360T>C (p.Tyr120=) | not provided [RCV003035997] | likely benign | 4 | 105446464 | 105446464 | Human | | name |
| 405005126 | CV2929390 | single nucleotide variant | NM_176869.3(PPA2):c.636T>G (p.Pro212=) | not provided [RCV003576270] | likely benign | 4 | 105424215 | 105424215 | Human | | name |
| 405069734 | CV2936966 | single nucleotide variant | NM_176869.3(PPA2):c.666T>C (p.Asp222=) | not provided [RCV003659345] | likely benign | 4 | 105399154 | 105399154 | Human | | name |
| 405155579 | CV2949511 | single nucleotide variant | NM_176869.3(PPA2):c.912A>G (p.Gln304=) | not provided [RCV003674309] | likely benign | 4 | 105386594 | 105386594 | Human | | name |
| 405245019 | CV2972762 | single nucleotide variant | NM_176869.3(PPA2):c.534T>G (p.Leu178=) | not provided [RCV003685025] | likely benign | 4 | 105424317 | 105424317 | Human | | name |
| 405245375 | CV3051481 | single nucleotide variant | NM_176869.3(PPA2):c.876C>T (p.Asn292=) | not provided [RCV003720279] | likely benign | 4 | 105386630 | 105386630 | Human | | name |
| 405096270 | CV3119120 | single nucleotide variant | NM_176869.3(PPA2):c.642C>T (p.Ala214=) | not provided [RCV003811571] | likely benign | 4 | 105424209 | 105424209 | Human | | name |
| 405189906 | CV3156761 | single nucleotide variant | NM_176869.3(PPA2):c.387G>A (p.Val129=) | not provided [RCV003859639] | likely benign | 4 | 105446437 | 105446437 | Human | | name |
| 405206754 | CV3161957 | single nucleotide variant | NM_176869.3(PPA2):c.816T>C (p.His272=) | not provided [RCV003861451] | likely benign | 4 | 105396302 | 105396302 | Human | | name |
| 405088297 | CV3163594 | single nucleotide variant | NM_176869.3(PPA2):c.330C>G (p.Thr110=) | not provided [RCV003852102] | likely benign | 4 | 105446494 | 105446494 | Human | | name |
| 405095055 | CV3164278 | single nucleotide variant | NM_176869.3(PPA2):c.76A>G (p.Thr26Ala) | not provided [RCV003852593] | uncertain significance | 4 | 105473975 | 105473975 | Human | | name |
| 405226078 | CV3169353 | single nucleotide variant | NM_176869.3(PPA2):c.909T>C (p.Thr303=) | not provided [RCV003864377] | likely benign | 4 | 105386597 | 105386597 | Human | | name |
| 405211997 | CV3173548 | single nucleotide variant | NM_176869.3(PPA2):c.900C>T (p.Phe300=) | not provided [RCV003862297] | likely benign | 4 | 105386606 | 105386606 | Human | | name |
| 407529453 | CV3471300 | single nucleotide variant | NM_176869.3(PPA2):c.870C>T (p.Cys290=) | Inborn genetic diseases [RCV004656053] | likely benign | 4 | 105386636 | 105386636 | Human | 1 | name |
| 597947993 | CV3759062 | single nucleotide variant | NM_176869.3(PPA2):c.327C>T (p.Ala109=) | not provided [RCV005078858] | likely benign | 4 | 105446497 | 105446497 | Human | | name |
| 597878973 | CV3813759 | single nucleotide variant | NM_176869.3(PPA2):c.333G>A (p.Lys111=) | not provided [RCV005149501] | likely benign | 4 | 105446491 | 105446491 | Human | | name |
| 597936414 | CV3862491 | single nucleotide variant | NM_176869.3(PPA2):c.522C>T (p.Gly174=) | not provided [RCV005207763] | likely benign | 4 | 105437956 | 105437956 | Human | | name |
| 14746819 | CV672053 | single nucleotide variant | NM_176869.3(PPA2):c.64A>G (p.Thr22Ala) | not provided [RCV000845062] | benign|likely benign|not provided | 4 | 105473987 | 105473987 | Human | | name |
| 15185034 | CV698326 | single nucleotide variant | NM_176869.3(PPA2):c.513C>T (p.Cys171=) | Inborn genetic diseases [RCV004649379]|not provided [RCV000952861]|not specified [RCV001700522] | benign|likely benign | 4 | 105437965 | 105437965 | Human | 1 | name |
| 15192261 | CV734385 | single nucleotide variant | NM_176869.3(PPA2):c.627G>A (p.Ala209=) | PPA2-related disorder [RCV004541939]|not provided [RCV000910486] | benign|likely benign | 4 | 105424224 | 105424224 | Human | 2 | name , trait , alternate_id |
| 15185421 | CV764244 | single nucleotide variant | NM_176869.3(PPA2):c.945A>T (p.Ser315=) | not provided [RCV000931053] | likely benign | 4 | 105370868 | 105370868 | Human | | name |
| 15191201 | CV764245 | single nucleotide variant | NM_176869.3(PPA2):c.53T>G (p.Leu18Arg) | Inborn genetic diseases [RCV002544460]|PPA2-related disorder [RCV004543496]|not provided [RCV000932736] | likely benign | 4 | 105473998 | 105473998 | Human | 3 | name , trait , alternate_id |
| 15191205 | CV764246 | single nucleotide variant | NM_176869.3(PPA2):c.52C>A (p.Leu18Met) | Inborn genetic diseases [RCV002542267]|PPA2-related disorder [RCV004543497]|not provided [RCV000932737] | likely benign | 4 | 105473999 | 105473999 | Human | 3 | name , trait , alternate_id |
| 150430297 | CV1036566 | single nucleotide variant | NM_176869.3(PPA2):c.250C>T (p.Arg84Ter) | Sudden cardiac failure, alcohol-induced [RCV001638082]|Sudden cardiac failure, infantile [RCV001638081]|not provided [RCV001871912] | uncertain significance | 4 | 105453615 | 105453615 | Human | 2 | name |
| 150429333 | CV1186685 | single nucleotide variant | NM_176869.3(PPA2):c.251G>A (p.Arg84Gln) | not provided [RCV001563463] | benign|likely benign | 4 | 105453614 | 105453614 | Human | | name |
| 150507878 | CV1229198 | insertion | NM_176869.3(PPA2):c.267+177_267+178insG | not provided [RCV001636069] | benign | 4 | 105453420 | 105453421 | Human | | name |
| 150556834 | CV1305798 | single nucleotide variant | NM_176869.3(PPA2):c.134C>T (p.Ser45Leu) | not provided [RCV001774783] | uncertain significance | 4 | 105473917 | 105473917 | Human | | name |
| 150556850 | CV1305816 | single nucleotide variant | NM_176869.3(PPA2):c.184C>T (p.Pro62Ser) | not provided [RCV001774801] | uncertain significance | 4 | 105456719 | 105456719 | Human | | name |
| 151884005 | CV1404899 | single nucleotide variant | NM_176869.3(PPA2):c.191A>G (p.His64Arg) | not provided [RCV001962245] | uncertain significance | 4 | 105456712 | 105456712 | Human | | name |
| 151852058 | CV1409075 | single nucleotide variant | NM_176869.3(PPA2):c.263A>G (p.Tyr88Cys) | not provided [RCV001937488] | uncertain significance | 4 | 105453602 | 105453602 | Human | | name |
| 151747538 | CV1432407 | single nucleotide variant | NM_176869.3(PPA2):c.250C>G (p.Arg84Gly) | not provided [RCV001985910] | uncertain significance | 4 | 105453615 | 105453615 | Human | | name |
| 151783015 | CV1432700 | single nucleotide variant | NM_176869.3(PPA2):c.145C>T (p.Arg49Cys) | not provided [RCV001972256] | uncertain significance | 4 | 105473906 | 105473906 | Human | | name |
| 151716713 | CV1472850 | single nucleotide variant | NM_176869.3(PPA2):c.110C>G (p.Thr37Ser) | not provided [RCV002039448] | uncertain significance | 4 | 105473941 | 105473941 | Human | | name |
| 151864743 | CV1478859 | single nucleotide variant | NM_176869.3(PPA2):c.148C>T (p.Leu50Phe) | not provided [RCV002018198] | uncertain significance | 4 | 105473903 | 105473903 | Human | | name |
| 151711016 | CV1497064 | single nucleotide variant | NM_176869.3(PPA2):c.115G>A (p.Glu39Lys) | not provided [RCV002001966] | uncertain significance | 4 | 105473936 | 105473936 | Human | | name |
| 156199675 | CV1886232 | single nucleotide variant | NM_176869.3(PPA2):c.110C>T (p.Thr37Ile) | not provided [RCV003084170] | uncertain significance | 4 | 105473941 | 105473941 | Human | | name |
| 155930113 | CV1908902 | single nucleotide variant | NM_176869.3(PPA2):c.238A>G (p.Met80Val) | not provided [RCV002614949] | likely benign | 4 | 105453627 | 105453627 | Human | | name |
| 155941872 | CV1910263 | single nucleotide variant | NM_176869.3(PPA2):c.121G>A (p.Gly41Ser) | not provided [RCV002615689] | uncertain significance | 4 | 105473930 | 105473930 | Human | | name |
| 156164358 | CV1986088 | single nucleotide variant | NM_176869.3(PPA2):c.128C>T (p.Pro43Leu) | not provided [RCV002642523] | uncertain significance | 4 | 105473923 | 105473923 | Human | | name |
| 156302123 | CV2013518 | single nucleotide variant | NM_176869.3(PPA2):c.208G>C (p.Val70Leu) | not provided [RCV002716109] | uncertain significance | 4 | 105456695 | 105456695 | Human | | name |
| 156178333 | CV2023203 | single nucleotide variant | NM_176869.3(PPA2):c.290A>G (p.Glu97Gly) | not provided [RCV002765537] | uncertain significance | 4 | 105449381 | 105449381 | Human | | name |
| 156156433 | CV2049322 | indel | NM_176869.3(PPA2):c.656-9_656-8delinsAT | not provided [RCV002801470] | uncertain significance | 4 | 105399172 | 105399173 | Human | | name |
| 156012616 | CV2051527 | deletion | NM_176869.3(PPA2):c.743del (p.Pro248fs) | not provided [RCV002820204] | uncertain significance | 4 | 105399077 | 105399077 | Human | | name |
| 156252738 | CV2098115 | single nucleotide variant | NM_176869.3(PPA2):c.253A>G (p.Asn85Asp) | not provided [RCV002895318] | uncertain significance | 4 | 105453612 | 105453612 | Human | | name |
| 155992421 | CV2147666 | single nucleotide variant | NM_176869.3(PPA2):c.284T>G (p.Ile95Ser) | not provided [RCV003016892] | uncertain significance | 4 | 105449387 | 105449387 | Human | | name |
| 156244348 | CV2207259 | single nucleotide variant | NM_176869.3(PPA2):c.277A>C (p.Asn93His) | Inborn genetic diseases [RCV002702043] | uncertain significance | 4 | 105449394 | 105449394 | Human | 1 | name |
| 401894650 | CV2785104 | deletion | NM_176869.3(PPA2):c.20_41del (p.Leu7fs) | Inborn genetic diseases [RCV003371709] | uncertain significance | 4 | 105474010 | 105474031 | Human | 1 | name |
| 407482492 | CV3471299 | single nucleotide variant | NM_176869.3(PPA2):c.224A>G (p.Glu75Gly) | Inborn genetic diseases [RCV004664778] | uncertain significance | 4 | 105453641 | 105453641 | Human | 1 | name |
| 12738851 | CV359125 | single nucleotide variant | NM_176869.3(PPA2):c.182C>T (p.Ser61Phe) | Sudden cardiac failure, infantile [RCV000412514] | pathogenic|likely pathogenic | 4 | 105456721 | 105456721 | Human | 1 | name |
| 12740640 | CV359128 | single nucleotide variant | NM_176869.3(PPA2):c.280A>G (p.Met94Val) | Sudden cardiac failure, infantile [RCV000412577] | pathogenic | 4 | 105449391 | 105449391 | Human | 1 | name |
| 598159663 | CV3901109 | single nucleotide variant | NM_176869.3(PPA2):c.101T>C (p.Leu34Pro) | Inborn genetic diseases [RCV005260791] | likely benign | 4 | 105473950 | 105473950 | Human | 1 | name |
| 150430295 | CV1036556 | single nucleotide variant | NM_176869.3(PPA2):c.833T>C (p.Leu278Ser) | Sudden cardiac failure, alcohol-induced [RCV001638080]|Sudden cardiac failure, infantile [RCV001638079] | uncertain significance | 4 | 105396285 | 105396285 | Human | 2 | name |
| 150430293 | CV1036557 | single nucleotide variant | NM_176869.3(PPA2):c.686G>T (p.Gly229Val) | Sudden cardiac failure, alcohol-induced [RCV001638078]|Sudden cardiac failure, infantile [RCV001638077] | uncertain significance | 4 | 105399134 | 105399134 | Human | 2 | name |
| 150430287 | CV1036559 | single nucleotide variant | NM_176869.3(PPA2):c.606G>C (p.Trp202Cys) | Sudden cardiac failure, alcohol-induced [RCV001638074]|Sudden cardiac failure, infantile [RCV001638073] | likely pathogenic | 4 | 105424245 | 105424245 | Human | 2 | name |
| 150430284 | CV1036560 | single nucleotide variant | NM_176869.3(PPA2):c.503T>C (p.Ile168Thr) | PPA2-related disorder [RCV003336380]|Sudden cardiac failure, alcohol-induced [RCV001638072]|Sudden cardiac failure, infantile [RCV001638071] | likely pathogenic|uncertain significance | 4 | 105437975 | 105437975 | Human | 2 | name , trait , alternate_id |
| 150408531 | CV1036561 | single nucleotide variant | NM_176869.3(PPA2):c.476C>T (p.Thr159Met) | Sudden cardiac failure, alcohol-induced [RCV001638070]|Sudden cardiac failure, infantile [RCV001638069]|not provided [RCV001565358] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 4 | 105438002 | 105438002 | Human | 2 | name |
| 150430282 | CV1036562 | single nucleotide variant | NM_176869.3(PPA2):c.443C>G (p.Thr148Ser) | Sudden cardiac failure, alcohol-induced [RCV001638068]|Sudden cardiac failure, infantile [RCV001638067] | uncertain significance | 4 | 105438035 | 105438035 | Human | 2 | name |
| 150430280 | CV1036563 | single nucleotide variant | NM_176869.3(PPA2):c.389C>T (p.Ala130Val) | Sudden cardiac failure, alcohol-induced [RCV001638066]|Sudden cardiac failure, infantile [RCV001638065]|not provided [RCV002547577] | uncertain significance | 4 | 105446435 | 105446435 | Human | 2 | name |
| 150430277 | CV1036564 | single nucleotide variant | NM_176869.3(PPA2):c.346C>T (p.Pro116Ser) | Sudden cardiac failure, alcohol-induced [RCV001638064]|Sudden cardiac failure, infantile [RCV001638063]|not provided [RCV001773710] | conflicting interpretations of pathogenicity|uncertain significance | 4 | 105446478 | 105446478 | Human | 2 | name |
| 150430275 | CV1036565 | single nucleotide variant | NM_176869.3(PPA2):c.340A>G (p.Met114Val) | Sudden cardiac failure, alcohol-induced [RCV001638062]|Sudden cardiac failure, infantile [RCV001638061]|not provided [RCV001871911] | pathogenic|uncertain significance | 4 | 105446484 | 105446484 | Human | 2 | name |
| 150416286 | CV1179785 | single nucleotide variant | NM_176869.3(PPA2):c.379C>T (p.Arg127Cys) | not provided [RCV001549543] | conflicting interpretations of pathogenicity|uncertain significance | 4 | 105446445 | 105446445 | Human | | name |
| 150482275 | CV1261754 | single nucleotide variant | NM_176869.3(PPA2):c.846G>C (p.Lys282Asn) | Sudden cardiac failure, infantile [RCV001789527]|not provided [RCV001686358]|not specified [RCV001699829] | benign | 4 | 105396272 | 105396272 | Human | 1 | name |
| 150556831 | CV1305794 | single nucleotide variant | NM_176869.3(PPA2):c.371G>A (p.Gly124Glu) | not provided [RCV001774779] | uncertain significance | 4 | 105446453 | 105446453 | Human | | name |
| 150556836 | CV1305801 | single nucleotide variant | NM_176869.3(PPA2):c.869G>C (p.Cys290Ser) | not provided [RCV001774786] | uncertain significance | 4 | 105396249 | 105396249 | Human | | name |
| 150556848 | CV1305814 | single nucleotide variant | NM_176869.3(PPA2):c.298C>T (p.Arg100Trp) | not provided [RCV001774799] | uncertain significance | 4 | 105449373 | 105449373 | Human | | name |
| 150556849 | CV1305815 | single nucleotide variant | NM_176869.3(PPA2):c.299G>A (p.Arg100Gln) | not provided [RCV001774800] | uncertain significance | 4 | 105449372 | 105449372 | Human | | name |
| 151820755 | CV1338272 | single nucleotide variant | NM_176869.3(PPA2):c.950C>T (p.Ser317Leu) | not provided [RCV001900857] | uncertain significance | 4 | 105370863 | 105370863 | Human | | name |
| 151791435 | CV1341281 | single nucleotide variant | NM_176869.3(PPA2):c.653A>G (p.His218Arg) | Inborn genetic diseases [RCV003289123]|not provided [RCV001866284] | uncertain significance | 4 | 105424198 | 105424198 | Human | 1 | name |
| 151872568 | CV1351662 | single nucleotide variant | NM_176869.3(PPA2):c.891T>G (p.Asp297Glu) | not provided [RCV001998541] | uncertain significance | 4 | 105386615 | 105386615 | Human | | name |
| 151873097 | CV1359467 | single nucleotide variant | NM_176869.3(PPA2):c.938C>T (p.Ser313Leu) | not provided [RCV002019200] | uncertain significance | 4 | 105386568 | 105386568 | Human | | name |
| 151850462 | CV1367756 | single nucleotide variant | NM_176869.3(PPA2):c.847T>C (p.Cys283Arg) | not provided [RCV001904026] | uncertain significance | 4 | 105396271 | 105396271 | Human | | name |
| 151748418 | CV1383199 | single nucleotide variant | NM_176869.3(PPA2):c.957T>G (p.Asn319Lys) | not provided [RCV001947871] | uncertain significance | 4 | 105370856 | 105370856 | Human | | name |
| 151766348 | CV1393847 | single nucleotide variant | NM_176869.3(PPA2):c.697G>C (p.Ala233Pro) | not provided [RCV002008419] | uncertain significance | 4 | 105399123 | 105399123 | Human | | name |
| 151738400 | CV1397672 | single nucleotide variant | NM_176869.3(PPA2):c.871A>T (p.Thr291Ser) | not provided [RCV001984991] | uncertain significance | 4 | 105386635 | 105386635 | Human | | name |
| 151806950 | CV1400183 | single nucleotide variant | NM_176869.3(PPA2):c.626C>T (p.Ala209Val) | not provided [RCV002012077] | uncertain significance | 4 | 105424225 | 105424225 | Human | | name |
| 151768043 | CV1410425 | single nucleotide variant | NM_176869.3(PPA2):c.410G>C (p.Gly137Ala) | not provided [RCV001987972] | uncertain significance | 4 | 105446414 | 105446414 | Human | | name |
| 151768659 | CV1410504 | single nucleotide variant | NM_176869.3(PPA2):c.862A>G (p.Ile288Val) | not provided [RCV001988031] | uncertain significance | 4 | 105396256 | 105396256 | Human | | name |
| 151880566 | CV1411368 | single nucleotide variant | NM_176869.3(PPA2):c.955A>T (p.Asn319Tyr) | not provided [RCV002020095] | uncertain significance | 4 | 105370858 | 105370858 | Human | | name |
| 151722529 | CV1412136 | single nucleotide variant | NM_176869.3(PPA2):c.731C>G (p.Pro244Arg) | not provided [RCV001891314] | uncertain significance | 4 | 105399089 | 105399089 | Human | | name |
| 151823288 | CV1425146 | single nucleotide variant | NM_176869.3(PPA2):c.587A>G (p.Asp196Gly) | not provided [RCV001919788] | uncertain significance | 4 | 105424264 | 105424264 | Human | | name |
| 151872271 | CV1430049 | single nucleotide variant | NM_176869.3(PPA2):c.796G>C (p.Glu266Gln) | not provided [RCV002019111] | uncertain significance | 4 | 105396322 | 105396322 | Human | | name |
| 151800932 | CV1439139 | single nucleotide variant | NM_176869.3(PPA2):c.940G>A (p.Val314Ile) | not provided [RCV001990945] | uncertain significance | 4 | 105370873 | 105370873 | Human | | name |
| 151776972 | CV1440402 | single nucleotide variant | NM_176869.3(PPA2):c.465A>T (p.Lys155Asn) | not provided [RCV001875001] | uncertain significance | 4 | 105438013 | 105438013 | Human | | name |
| 151780349 | CV1442803 | single nucleotide variant | NM_176869.3(PPA2):c.992T>G (p.Phe331Cys) | not provided [RCV002009680] | uncertain significance | 4 | 105369738 | 105369738 | Human | | name |
| 151806335 | CV1453424 | single nucleotide variant | NM_176869.3(PPA2):c.482G>A (p.Cys161Tyr) | not provided [RCV001877835] | uncertain significance | 4 | 105437996 | 105437996 | Human | | name |
| 151818166 | CV1453444 | single nucleotide variant | NM_176869.3(PPA2):c.931G>A (p.Val311Ile) | not provided [RCV001900617] | uncertain significance | 4 | 105386575 | 105386575 | Human | | name |
| 151819008 | CV1466087 | single nucleotide variant | NM_176869.3(PPA2):c.733G>A (p.Asp245Asn) | Inborn genetic diseases [RCV002552753]|not provided [RCV001900695] | uncertain significance | 4 | 105399087 | 105399087 | Human | 1 | name |
| 151826331 | CV1467266 | single nucleotide variant | NM_176869.3(PPA2):c.872C>A (p.Thr291Lys) | mitochondrial cardiomyopathy and sudden cardiac failure [RCV004820898]|not provided [RCV001901367] | uncertain significance | 4 | 105386634 | 105386634 | Human | 1 | name |
| 151831968 | CV1487875 | single nucleotide variant | NM_176869.3(PPA2):c.752A>T (p.Gln251Leu) | Inborn genetic diseases [RCV002563436]|not provided [RCV001955763] | uncertain significance | 4 | 105399068 | 105399068 | Human | 1 | name |
| 151721248 | CV1491686 | single nucleotide variant | NM_176869.3(PPA2):c.380G>A (p.Arg127His) | not provided [RCV002003702] | uncertain significance | 4 | 105446444 | 105446444 | Human | | name |
| 151809606 | CV1497088 | single nucleotide variant | NM_176869.3(PPA2):c.506A>G (p.Asp169Gly) | not provided [RCV001974644] | uncertain significance | 4 | 105437972 | 105437972 | Human | | name |
| 151798807 | CV1503983 | single nucleotide variant | NM_176869.3(PPA2):c.472A>G (p.Ser158Gly) | not provided [RCV001973718] | uncertain significance | 4 | 105438006 | 105438006 | Human | | name |
| 151876696 | CV1508164 | single nucleotide variant | NM_176869.3(PPA2):c.785C>T (p.Ala262Val) | not provided [RCV001961131] | uncertain significance | 4 | 105396333 | 105396333 | Human | | name |
| 151867388 | CV1516472 | single nucleotide variant | NM_176869.3(PPA2):c.838A>G (p.Met280Val) | not provided [RCV001980877] | uncertain significance | 4 | 105396280 | 105396280 | Human | | name |
| 153346378 | CV1691685 | single nucleotide variant | NM_176869.3(PPA2):c.791C>T (p.Ala264Val) | Sudden cardiac failure, infantile [RCV002273168] | uncertain significance | 4 | 105396327 | 105396327 | Human | 1 | name |
| 156361721 | CV1881257 | single nucleotide variant | NM_176869.3(PPA2):c.814C>T (p.His272Tyr) | Inborn genetic diseases [RCV003065664]|Sudden cardiac failure, infantile [RCV004594666]|not provided [RCV003065663] | likely pathogenic|uncertain significance | 4 | 105396304 | 105396304 | Human | 2 | name |
| 156027804 | CV1918956 | single nucleotide variant | NM_176869.3(PPA2):c.877G>A (p.Val293Met) | Inborn genetic diseases [RCV004961126]|not provided [RCV002637025] | likely benign|uncertain significance | 4 | 105386629 | 105386629 | Human | 1 | name |
| 156023747 | CV1922199 | single nucleotide variant | NM_176869.3(PPA2):c.368A>G (p.Asp123Gly) | not provided [RCV002636833] | uncertain significance | 4 | 105446456 | 105446456 | Human | | name |
| 156447619 | CV1942333 | single nucleotide variant | NM_176869.3(PPA2):c.517A>G (p.Ile173Val) | not provided [RCV003119157] | uncertain significance | 4 | 105437961 | 105437961 | Human | | name |
| 156330420 | CV1954050 | single nucleotide variant | NM_176869.3(PPA2):c.722A>G (p.Tyr241Cys) | not provided [RCV002579965] | uncertain significance | 4 | 105399098 | 105399098 | Human | | name |
| 156346714 | CV1958239 | single nucleotide variant | NM_176869.3(PPA2):c.902G>A (p.Arg301His) | not provided [RCV002580798] | uncertain significance | 4 | 105386604 | 105386604 | Human | | name |
| 156186702 | CV1997827 | single nucleotide variant | NM_176869.3(PPA2):c.881A>G (p.Gln294Arg) | not provided [RCV002643189] | uncertain significance | 4 | 105386625 | 105386625 | Human | | name |
| 156376200 | CV2000280 | single nucleotide variant | NM_176869.3(PPA2):c.536C>A (p.Ser179Tyr) | not provided [RCV002653311] | uncertain significance | 4 | 105424315 | 105424315 | Human | | name |
| 156105548 | CV2001958 | single nucleotide variant | NM_176869.3(PPA2):c.392A>G (p.Asn131Ser) | not provided [RCV002639742] | uncertain significance | 4 | 105446432 | 105446432 | Human | | name |
| 155902792 | CV2010293 | single nucleotide variant | NM_176869.3(PPA2):c.824G>C (p.Trp275Ser) | not provided [RCV002726289] | uncertain significance | 4 | 105396294 | 105396294 | Human | | name |
| 156231538 | CV2019779 | single nucleotide variant | NM_176869.3(PPA2):c.910C>T (p.Gln304Ter) | not provided [RCV002701379] | uncertain significance | 4 | 105386596 | 105386596 | Human | | name |
| 156313260 | CV2031717 | single nucleotide variant | NM_176869.3(PPA2):c.542G>A (p.Gly181Glu) | not provided [RCV002716658] | uncertain significance | 4 | 105424309 | 105424309 | Human | | name |
| 156232893 | CV2039906 | single nucleotide variant | NM_176869.3(PPA2):c.998G>T (p.Gly333Val) | not provided [RCV002805381] | uncertain significance | 4 | 105369732 | 105369732 | Human | | name |
| 156288069 | CV2047070 | single nucleotide variant | NM_176869.3(PPA2):c.533T>C (p.Leu178Pro) | not provided [RCV002770648] | uncertain significance | 4 | 105424318 | 105424318 | Human | | name |
| 156012634 | CV2051528 | single nucleotide variant | NM_176869.3(PPA2):c.741A>T (p.Lys247Asn) | not provided [RCV002820205] | uncertain significance | 4 | 105399079 | 105399079 | Human | | name |
| 155986296 | CV2056075 | single nucleotide variant | NM_176869.3(PPA2):c.993C>G (p.Phe331Leu) | not provided [RCV002818995] | uncertain significance | 4 | 105369737 | 105369737 | Human | | name |
| 156333898 | CV2091161 | single nucleotide variant | NM_176869.3(PPA2):c.825G>A (p.Trp275Ter) | not provided [RCV002900093] | uncertain significance | 4 | 105396293 | 105396293 | Human | | name |
| 156252587 | CV2098111 | single nucleotide variant | NM_176869.3(PPA2):c.982G>C (p.Val328Leu) | not provided [RCV002895314] | uncertain significance | 4 | 105369748 | 105369748 | Human | | name |
| 155923283 | CV2099421 | single nucleotide variant | NM_176869.3(PPA2):c.407A>G (p.Lys136Arg) | not provided [RCV002903451] | uncertain significance | 4 | 105446417 | 105446417 | Human | | name |
| 156025153 | CV2100140 | single nucleotide variant | NM_176869.3(PPA2):c.303G>A (p.Trp101Ter) | not provided [RCV002885141] | uncertain significance | 4 | 105449368 | 105449368 | Human | | name |
| 156237514 | CV2105252 | single nucleotide variant | NM_176869.3(PPA2):c.634C>T (p.Pro212Ser) | not provided [RCV002919174] | uncertain significance | 4 | 105424217 | 105424217 | Human | | name |
| 156225458 | CV2115333 | single nucleotide variant | NM_176869.3(PPA2):c.577G>T (p.Ala193Ser) | not provided [RCV002932618] | uncertain significance | 4 | 105424274 | 105424274 | Human | | name |
| 155983533 | CV2153656 | single nucleotide variant | NM_176869.3(PPA2):c.960A>T (p.Lys320Asn) | not provided [RCV003016492] | uncertain significance | 4 | 105370853 | 105370853 | Human | | name |
| 156199990 | CV2153793 | single nucleotide variant | NM_176869.3(PPA2):c.580C>T (p.Leu194Phe) | not provided [RCV003006290] | uncertain significance | 4 | 105424271 | 105424271 | Human | | name |
| 156307382 | CV2167701 | single nucleotide variant | NM_176869.3(PPA2):c.753G>C (p.Gln251His) | not provided [RCV003045846] | uncertain significance | 4 | 105399067 | 105399067 | Human | | name |
| 156215679 | CV2176607 | single nucleotide variant | NM_176869.3(PPA2):c.383A>G (p.Tyr128Cys) | not provided [RCV003024988] | uncertain significance | 4 | 105446441 | 105446441 | Human | | name |
| 156188180 | CV2178800 | single nucleotide variant | NM_176869.3(PPA2):c.341T>C (p.Met114Thr) | not provided [RCV003057745] | uncertain significance | 4 | 105446483 | 105446483 | Human | | name |
| 156005366 | CV2179435 | single nucleotide variant | NM_176869.3(PPA2):c.453T>G (p.Asp151Glu) | not provided [RCV003034967] | uncertain significance | 4 | 105438025 | 105438025 | Human | | name |
| 156038660 | CV2187738 | single nucleotide variant | NM_176869.3(PPA2):c.568G>A (p.Gly190Arg) | not provided [RCV003036480] | uncertain significance | 4 | 105424283 | 105424283 | Human | | name |
| 156284874 | CV2232751 | single nucleotide variant | NM_176869.3(PPA2):c.799G>A (p.Val267Ile) | Inborn genetic diseases [RCV002747339] | uncertain significance | 4 | 105396319 | 105396319 | Human | 1 | name |
| 155954569 | CV2302165 | single nucleotide variant | NM_176869.3(PPA2):c.540T>A (p.Cys180Ter) | Inborn genetic diseases [RCV002905428] | pathogenic | 4 | 105424311 | 105424311 | Human | 1 | name |
| 156285417 | CV2334840 | single nucleotide variant | NM_176869.3(PPA2):c.779A>G (p.Asn260Ser) | Inborn genetic diseases [RCV002961221]|not provided [RCV003777998] | uncertain significance | 4 | 105399041 | 105399041 | Human | 1 | name |
| 329372336 | CV2455171 | single nucleotide variant | NM_176869.3(PPA2):c.619A>G (p.Ile207Val) | Inborn genetic diseases [RCV003210071] | uncertain significance | 4 | 105424232 | 105424232 | Human | 1 | name |
| 401869637 | CV2782433 | single nucleotide variant | NM_176869.3(PPA2):c.781A>G (p.Lys261Glu) | Inborn genetic diseases [RCV003380983] | uncertain significance | 4 | 105399039 | 105399039 | Human | 1 | name |
| 405669801 | CV3370029 | single nucleotide variant | NM_176869.3(PPA2):c.466G>T (p.Asp156Tyr) | Inborn genetic diseases [RCV004514865]|not provided [RCV005001463] | uncertain significance | 4 | 105438012 | 105438012 | Human | 1 | name |
| 405669796 | CV3370030 | single nucleotide variant | NM_176869.3(PPA2):c.772T>C (p.Phe258Leu) | Inborn genetic diseases [RCV004514866] | uncertain significance | 4 | 105399048 | 105399048 | Human | 1 | name |
| 408370681 | CV3503096 | single nucleotide variant | NM_176869.3(PPA2):c.524C>G (p.Ser175Ter) | not provided [RCV004724217] | pathogenic | 4 | 105437954 | 105437954 | Human | | name |
| 408388497 | CV3529001 | single nucleotide variant | NM_176869.3(PPA2):c.742C>T (p.Pro248Ser) | not provided [RCV004773823] | uncertain significance | 4 | 105399078 | 105399078 | Human | | name |
| 597693546 | CV3581044 | single nucleotide variant | NM_176869.3(PPA2):c.626C>A (p.Ala209Glu) | Inborn genetic diseases [RCV004954492] | uncertain significance | 4 | 105424225 | 105424225 | Human | 1 | name |
| 597693554 | CV3581045 | single nucleotide variant | NM_176869.3(PPA2):c.383A>C (p.Tyr128Ser) | Inborn genetic diseases [RCV004954493] | uncertain significance | 4 | 105446441 | 105446441 | Human | 1 | name |
| 12740639 | CV359126 | single nucleotide variant | NM_176869.3(PPA2):c.881A>C (p.Gln294Pro) | Sudden cardiac failure, infantile [RCV000412573] | pathogenic | 4 | 105386625 | 105386625 | Human | 1 | name |
| 12738793 | CV359127 | single nucleotide variant | NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) | Cardiovascular phenotype [RCV005404543]|Inborn genetic diseases [RCV002524633]|Sudden cardiac failure, alcohol-induced [RCV000412531]|Sudden cardiac failure, infantile [RCV000412629]|not provided [RCV001060001] | pathogenic|likely pathogenic | 4 | 105437964 | 105437964 | Human | 3 | name |
| 12740655 | CV359129 | single nucleotide variant | NM_176869.3(PPA2):c.318G>T (p.Met106Ile) | Sudden cardiac failure, infantile [RCV000412661] | pathogenic | 4 | 105449353 | 105449353 | Human | 1 | name |
| 12738849 | CV359130 | single nucleotide variant | NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) | Inborn genetic diseases [RCV002523897]|Sudden cardiac failure, infantile [RCV000412508]|Sudden cardiac failure, infantile [RCV005033928]|not provided [RCV001060000] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records | 4 | 105446444 | 105446444 | Human | 2 | name |
| 12738853 | CV359131 | single nucleotide variant | NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) | Inborn genetic diseases [RCV002523898]|Sudden cardiac failure, alcohol-induced [RCV000412589]|Sudden cardiac failure, infantile [RCV002272221]|not provided [RCV001558598] | pathogenic|likely pathogenic | 4 | 105399137 | 105399137 | Human | 3 | name |
| 12738856 | CV359132 | single nucleotide variant | NM_176869.3(PPA2):c.500C>T (p.Pro167Leu) | Sudden cardiac failure, infantile [RCV000412653] | pathogenic|likely pathogenic | 4 | 105437978 | 105437978 | Human | 1 | name |
| 597832519 | CV3760209 | single nucleotide variant | NM_176869.3(PPA2):c.604T>C (p.Trp202Arg) | not provided [RCV005084951] | likely pathogenic | 4 | 105424247 | 105424247 | Human | | name |
| 597904714 | CV3793338 | single nucleotide variant | NM_176869.3(PPA2):c.665A>G (p.Asp222Gly) | not provided [RCV005153306] | uncertain significance | 4 | 105399155 | 105399155 | Human | | name |
| 597890870 | CV3839810 | single nucleotide variant | NM_176869.3(PPA2):c.556G>A (p.Val186Met) | not provided [RCV005179702] | likely pathogenic | 4 | 105424295 | 105424295 | Human | | name |
| 598228526 | CV3894646 | single nucleotide variant | NM_176869.3(PPA2):c.459T>A (p.His153Gln) | Cardiomyopathy, mitochondrial [RCV005257882] | uncertain significance | 4 | 105438019 | 105438019 | Human | 1 | name |
| 616936933 | CV4010876 | single nucleotide variant | NM_176869.3(PPA2):c.611T>A (p.Leu204Ter) | Cardiovascular phenotype [RCV005404223] | likely pathogenic | 4 | 105424240 | 105424240 | Human | | name |
| 14395938 | CV611602 | single nucleotide variant | NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) | Sudden cardiac failure, alcohol-induced [RCV001637124]|Sudden cardiac failure, infantile [RCV001029737]|not provided [RCV000760658] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 4 | 105386568 | 105386568 | Human | 2 | name |
| 15158287 | CV709114 | single nucleotide variant | NM_176869.3(PPA2):c.727G>T (p.Val243Leu) | not provided [RCV000969478]|not specified [RCV005405457] | benign|likely benign | 4 | 105399093 | 105399093 | Human | | name |
| 15139607 | CV781849 | single nucleotide variant | NM_176869.3(PPA2):c.901C>T (p.Arg301Cys) | not provided [RCV000982668] | benign|likely benign | 4 | 105386605 | 105386605 | Human | | name |
| 28878083 | CV861671 | single nucleotide variant | NM_176869.3(PPA2):c.442A>T (p.Thr148Ser) | Sudden cardiac failure, infantile [RCV001095794] | likely pathogenic | 4 | 105438036 | 105438036 | Human | 1 | name |
| 150426593 | CV1186686 | inversion | NM_176869.3(PPA2):c.52_53inv (p.Leu18Arg) | not provided [RCV001559772] | likely benign | 4 | 105473998 | 105473999 | Human | | name |
| 150475084 | CV1217896 | insertion | NM_176869.3(PPA2):c.869+35_869+36insTTATT | not provided [RCV001615907] | benign | 4 | 105396213 | 105396214 | Human | | name |
| 151233979 | CV1317949 | insertion | NM_176869.3(PPA2):c.869+35_869+36insTTTAT | Sudden cardiac failure, infantile [RCV001789584] | benign | 4 | 105396213 | 105396214 | Human | 1 | name |
| 151760279 | CV1403912 | deletion | NM_176869.3(PPA2):c.92_102del (p.Ala31fs) | not provided [RCV002007777] | uncertain significance | 4 | 105473949 | 105473959 | Human | | name |
| 126731216 | CV1019895 | microsatellite | NM_176869.3(PPA2):c.962_965del (p.Glu321fs) | not provided [RCV002002105] | pathogenic|uncertain significance | 4 | 105370848 | 105370851 | Human | | name |
| 151837351 | CV1392218 | deletion | NM_176869.3(PPA2):c.980_983del (p.Gln327fs) | not provided [RCV001902440] | uncertain significance | 4 | 105369747 | 105369750 | Human | | name |
| 155921008 | CV2210951 | deletion | NM_176869.3(PPA2):c.175_177del (p.Tyr59del) | Inborn genetic diseases [RCV002682859] | uncertain significance | 4 | 105456726 | 105456728 | Human | 1 | name |
| 150490807 | CV1274601 | microsatellite | NM_176869.3(PPA2):c.9GCTGCTGCG[3] (p.4LLR[3]) | not provided [RCV001700914] | uncertain significance | 4 | 105474024 | 105474025 | Human | | name |
| 150423529 | CV1183418 | indel | NM_176869.3(PPA2):c.25_27delinsTGT (p.Arg9Cys) | not provided [RCV001555448] | uncertain significance | 4 | 105474024 | 105474026 | Human | | name |
| 150453384 | CV1260507 | insertion | NM_176869.3(PPA2):c.*52_*53insACTCTTTTTCCCCAAG | not provided [RCV001680998] | benign | 4 | 105369672 | 105369673 | Human | | name |
| 151733200 | CV1456416 | insertion | NM_176869.3(PPA2):c.27_28insCTGCTGCGT (p.4LLR[3]) | not provided [RCV002041418] | uncertain significance | 4 | 105474023 | 105474024 | Human | | name |
