| 598275105 | CV3936420 | single nucleotide variant | NM_003368.5(USP1):c.37T>C (p.Ser13Pro) | not specified [RCV005304261] | uncertain significance | 1 | 62439904 | 62439904 | Human | | name |
| 155979022 | CV2335261 | single nucleotide variant | NM_003368.5(USP1):c.175C>A (p.Gln59Lys) | not specified [RCV004186828] | uncertain significance | 1 | 62441492 | 62441492 | Human | | name |
| 401861187 | CV2758793 | single nucleotide variant | NM_003368.5(USP1):c.226A>G (p.Asn76Asp) | not specified [RCV004337847] | uncertain significance | 1 | 62441543 | 62441543 | Human | | name |
| 15183884 | CV719044 | single nucleotide variant | NM_003368.5(USP1):c.1050C>T (p.Ser350=) | not provided [RCV000886321] | benign | 1 | 62445230 | 62445230 | Human | | name |
| 15133993 | CV732539 | single nucleotide variant | NM_003368.5(USP1):c.2016A>G (p.Gln672=) | not provided [RCV000898217] | benign | 1 | 62450639 | 62450639 | Human | | name |
| 156318756 | CV2200382 | single nucleotide variant | NM_003368.5(USP1):c.968C>T (p.Ser323Phe) | not specified [RCV004076705] | uncertain significance | 1 | 62445148 | 62445148 | Human | | name |
| 156388113 | CV2221719 | single nucleotide variant | NM_003368.5(USP1):c.985A>G (p.Arg329Gly) | not specified [RCV004098479] | uncertain significance | 1 | 62445165 | 62445165 | Human | | name |
| 155927115 | CV2230735 | single nucleotide variant | NM_003368.5(USP1):c.859T>C (p.Ser287Pro) | not specified [RCV004097675] | uncertain significance | 1 | 62445039 | 62445039 | Human | | name |
| 156289800 | CV2333234 | single nucleotide variant | NM_003368.5(USP1):c.506A>G (p.Lys169Arg) | not specified [RCV004196566] | uncertain significance | 1 | 62443268 | 62443268 | Human | | name |
| 155934909 | CV2372570 | single nucleotide variant | NM_003368.5(USP1):c.736A>G (p.Ile246Val) | not specified [RCV004219362] | uncertain significance | 1 | 62444916 | 62444916 | Human | | name |
| 329355696 | CV2434349 | single nucleotide variant | NM_003368.5(USP1):c.994C>A (p.Gln332Lys) | not specified [RCV004252018] | uncertain significance | 1 | 62445174 | 62445174 | Human | | name |
| 329385073 | CV2454658 | single nucleotide variant | NM_003368.5(USP1):c.785A>C (p.Glu262Ala) | not specified [RCV004268116] | uncertain significance | 1 | 62444965 | 62444965 | Human | | name |
| 401737113 | CV2679230 | single nucleotide variant | NM_003368.5(USP1):c.416C>T (p.Ser139Phe) | not specified [RCV004285783] | uncertain significance | 1 | 62443178 | 62443178 | Human | | name |
| 401874535 | CV2759255 | single nucleotide variant | NM_003368.5(USP1):c.442A>G (p.Ser148Gly) | not specified [RCV004335852] | uncertain significance | 1 | 62443204 | 62443204 | Human | | name |
| 405814688 | CV3341592 | single nucleotide variant | NM_003368.5(USP1):c.761T>G (p.Met254Arg) | not specified [RCV004484478] | uncertain significance | 1 | 62444941 | 62444941 | Human | | name |
| 407455114 | CV3489584 | single nucleotide variant | NM_003368.5(USP1):c.310G>A (p.Gly104Ser) | not specified [RCV004685407] | uncertain significance | 1 | 62442213 | 62442213 | Human | | name |
| 597791415 | CV3626061 | single nucleotide variant | NM_003368.5(USP1):c.885G>T (p.Glu295Asp) | not specified [RCV004876653] | uncertain significance | 1 | 62445065 | 62445065 | Human | | name |
| 598275103 | CV3936419 | single nucleotide variant | NM_003368.5(USP1):c.863A>T (p.Lys288Met) | not specified [RCV005304260] | uncertain significance | 1 | 62445043 | 62445043 | Human | | name |
| 598275109 | CV3936424 | single nucleotide variant | NM_003368.5(USP1):c.964A>G (p.Ile322Val) | not specified [RCV005304263] | likely benign | 1 | 62445144 | 62445144 | Human | | name |
| 13442671 | CV434568 | deletion | NM_003368.5(USP1):c.1985del (p.Asn662fs) | not provided [RCV000509163] | not provided | 1 | 62450601 | 62450601 | Human | | name |
| 8629630 | CV84777 | single nucleotide variant | NM_003368.5(USP1):c.716C>T (p.Pro239Leu) | not specified [RCV004484477] | uncertain significance|not provided | 1 | 62444896 | 62444896 | Human | | name |
| 155915511 | CV2200340 | single nucleotide variant | NM_003368.5(USP1):c.1094A>G (p.Gln365Arg) | not specified [RCV004076672] | uncertain significance | 1 | 62445274 | 62445274 | Human | | name |
| 156233930 | CV2227803 | single nucleotide variant | NM_003368.5(USP1):c.1095A>C (p.Gln365His) | not specified [RCV004094182] | uncertain significance | 1 | 62445275 | 62445275 | Human | | name |
| 156287093 | CV2229588 | single nucleotide variant | NM_003368.5(USP1):c.2209G>A (p.Val737Met) | not specified [RCV004103407] | uncertain significance | 1 | 62450832 | 62450832 | Human | | name |
| 156190473 | CV2289269 | single nucleotide variant | NM_003368.5(USP1):c.1183G>A (p.Gly395Arg) | not specified [RCV004152254] | uncertain significance | 1 | 62445363 | 62445363 | Human | | name |
| 156187587 | CV2292478 | single nucleotide variant | NM_003368.5(USP1):c.2290C>G (p.Leu764Val) | not specified [RCV004150266] | uncertain significance | 1 | 62450913 | 62450913 | Human | | name |
| 156276415 | CV2299943 | single nucleotide variant | NM_003368.5(USP1):c.1393C>G (p.Leu465Val) | not specified [RCV004151161] | uncertain significance | 1 | 62447484 | 62447484 | Human | | name |
| 155962911 | CV2308209 | single nucleotide variant | NM_003368.5(USP1):c.1186C>A (p.Leu396Ile) | not specified [RCV004164710] | uncertain significance | 1 | 62445366 | 62445366 | Human | | name |
| 156290405 | CV2324902 | single nucleotide variant | NM_003368.5(USP1):c.1168A>G (p.Thr390Ala) | not specified [RCV004175167] | uncertain significance | 1 | 62445348 | 62445348 | Human | | name |
| 156325715 | CV2335349 | single nucleotide variant | NM_003368.5(USP1):c.1130A>T (p.Asp377Val) | not specified [RCV004599567] | uncertain significance | 1 | 62445310 | 62445310 | Human | | name |
| 156065622 | CV2340846 | single nucleotide variant | NM_003368.5(USP1):c.1092C>G (p.Asn364Lys) | not specified [RCV004188203] | uncertain significance | 1 | 62445272 | 62445272 | Human | | name |
| 156065826 | CV2346644 | single nucleotide variant | NM_003368.5(USP1):c.1988T>C (p.Val663Ala) | not specified [RCV004199670] | uncertain significance | 1 | 62450611 | 62450611 | Human | | name |
| 155910376 | CV2369897 | single nucleotide variant | NM_003368.5(USP1):c.1936A>G (p.Ile646Val) | not specified [RCV004208368] | uncertain significance | 1 | 62450559 | 62450559 | Human | | name |
| 156138079 | CV2374191 | single nucleotide variant | NM_003368.5(USP1):c.1046C>T (p.Pro349Leu) | not specified [RCV004229336] | uncertain significance | 1 | 62445226 | 62445226 | Human | | name |
| 156213951 | CV2385883 | single nucleotide variant | NM_003368.5(USP1):c.2081C>T (p.Ala694Val) | not specified [RCV004226923] | uncertain significance | 1 | 62450704 | 62450704 | Human | | name |
| 329393025 | CV2469180 | single nucleotide variant | NM_003368.5(USP1):c.1015A>G (p.Ile339Val) | not specified [RCV004280534] | uncertain significance | 1 | 62445195 | 62445195 | Human | | name |
| 329352656 | CV2470278 | single nucleotide variant | NM_003368.5(USP1):c.2045A>G (p.Asn682Ser) | not specified [RCV004279683] | uncertain significance | 1 | 62450668 | 62450668 | Human | | name |
| 401719550 | CV2701170 | single nucleotide variant | NM_003368.5(USP1):c.1807C>T (p.Leu603Phe) | not specified [RCV004309750] | uncertain significance | 1 | 62450430 | 62450430 | Human | | name |
| 401857507 | CV2759305 | single nucleotide variant | NM_003368.5(USP1):c.2311A>C (p.Thr771Pro) | not specified [RCV004335892] | uncertain significance | 1 | 62450934 | 62450934 | Human | | name |
| 401927803 | CV2808940 | single nucleotide variant | NM_003368.5(USP1):c.1996A>G (p.Ile666Val) | not provided [RCV003406537] | likely benign | 1 | 62450619 | 62450619 | Human | | name |
| 405814697 | CV3341588 | single nucleotide variant | NM_003368.5(USP1):c.1060A>G (p.Lys354Glu) | not specified [RCV004484473] | uncertain significance | 1 | 62445240 | 62445240 | Human | | name |
| 405814695 | CV3341589 | single nucleotide variant | NM_003368.5(USP1):c.1190A>C (p.Glu397Ala) | not specified [RCV004484474] | uncertain significance | 1 | 62445370 | 62445370 | Human | | name |
| 405814693 | CV3341590 | single nucleotide variant | NM_003368.5(USP1):c.1258C>G (p.Gln420Glu) | not specified [RCV004484475] | uncertain significance | 1 | 62447349 | 62447349 | Human | | name |
| 405814691 | CV3341591 | single nucleotide variant | NM_003368.5(USP1):c.2059C>T (p.Pro687Ser) | not specified [RCV004484476] | uncertain significance | 1 | 62450682 | 62450682 | Human | | name |
| 407455110 | CV3489582 | single nucleotide variant | NM_003368.5(USP1):c.2078C>T (p.Thr693Ile) | not specified [RCV004685405] | uncertain significance | 1 | 62450701 | 62450701 | Human | | name |
| 407455112 | CV3489583 | single nucleotide variant | NM_003368.5(USP1):c.1223T>A (p.Val408Asp) | not specified [RCV004685406] | uncertain significance | 1 | 62445403 | 62445403 | Human | | name |
| 407455116 | CV3489585 | single nucleotide variant | NM_003368.5(USP1):c.2117C>G (p.Thr706Ser) | not specified [RCV004685408] | uncertain significance | 1 | 62450740 | 62450740 | Human | | name |
| 407455118 | CV3489586 | single nucleotide variant | NM_003368.5(USP1):c.2053T>G (p.Ser685Ala) | not specified [RCV004685409] | uncertain significance | 1 | 62450676 | 62450676 | Human | | name |
| 407455120 | CV3489587 | single nucleotide variant | NM_003368.5(USP1):c.1553G>A (p.Ser518Asn) | not specified [RCV004685410] | uncertain significance | 1 | 62448597 | 62448597 | Human | | name |
| 407455122 | CV3489588 | single nucleotide variant | NM_003368.5(USP1):c.2129A>G (p.His710Arg) | not specified [RCV004685411] | uncertain significance | 1 | 62450752 | 62450752 | Human | | name |
| 407455124 | CV3489589 | single nucleotide variant | NM_003368.5(USP1):c.1897A>G (p.Arg633Gly) | not specified [RCV004685412] | uncertain significance | 1 | 62450520 | 62450520 | Human | | name |
| 597791418 | CV3626062 | single nucleotide variant | NM_003368.5(USP1):c.1205C>G (p.Thr402Ser) | not specified [RCV004876654] | uncertain significance | 1 | 62445385 | 62445385 | Human | | name |
| 597722222 | CV3626063 | single nucleotide variant | NM_003368.5(USP1):c.1432C>T (p.Pro478Ser) | not specified [RCV004888004] | uncertain significance | 1 | 62448476 | 62448476 | Human | | name |
| 598203417 | CV3936418 | single nucleotide variant | NM_003368.5(USP1):c.1637G>A (p.Gly546Asp) | not specified [RCV005290531] | uncertain significance | 1 | 62450260 | 62450260 | Human | | name |
| 598275107 | CV3936421 | single nucleotide variant | NM_003368.5(USP1):c.1918A>G (p.Asn640Asp) | not specified [RCV005304262] | likely benign | 1 | 62450541 | 62450541 | Human | | name |
| 598203424 | CV3936422 | single nucleotide variant | NM_003368.5(USP1):c.1366A>G (p.Ile456Val) | not specified [RCV005290532] | uncertain significance | 1 | 62447457 | 62447457 | Human | | name |
| 598203430 | CV3936423 | single nucleotide variant | NM_003368.5(USP1):c.1084A>T (p.Thr362Ser) | not specified [RCV005290533] | uncertain significance | 1 | 62445264 | 62445264 | Human | | name |
| 598203435 | CV3936425 | single nucleotide variant | NM_003368.5(USP1):c.1678C>T (p.Leu560Phe) | not specified [RCV005290534] | uncertain significance | 1 | 62450301 | 62450301 | Human | | name |
| 598275111 | CV3936426 | single nucleotide variant | NM_003368.5(USP1):c.1973T>G (p.Leu658Trp) | not specified [RCV005304264] | uncertain significance | 1 | 62450596 | 62450596 | Human | | name |
| 8629629 | CV84776 | single nucleotide variant | NM_001017415.1(USP1):c.715C>T (p.Pro239Ser) | Malignant melanoma [RCV000064858] | not provided | 1 | 62444895 | 62444895 | Human | | name |
| 15136953 | CV776588 | single nucleotide variant | NM_005151.4(USP14):c.17-3C>T | not provided [RCV000943159] | likely benign | 18 | 163305 | 163305 | Human | | name |
| 15192982 | CV776768 | single nucleotide variant | NM_005151.4(USP14):c.17-6T>C | not provided [RCV000933238] | likely benign | 18 | 163302 | 163302 | Human | | name |
| 329955049 | CV2670989 | single nucleotide variant | NM_017414.4(USP18):c.891+1G>T | Pseudo-TORCH syndrome 2 [RCV003236258] | likely pathogenic | 22 | 18170921 | 18170921 | Human | 1 | name , alternate_id |
| 597722328 | CV3626088 | single nucleotide variant | NM_001371072.1(USP11):c.-3G>C | not specified [RCV004888012] | uncertain significance | X | 47233041 | 47233041 | Human | | name |
| 15098932 | CV758511 | single nucleotide variant | NM_001371072.1(USP11):c.-1G>C | not provided [RCV000912321] | likely benign | X | 47233043 | 47233043 | Human | | name |
| 15148599 | CV780222 | single nucleotide variant | NM_017414.4(USP18):c.158-5T>G | not provided [RCV000967579] | benign | 22 | 18160167 | 18160167 | Human | | name |
| 150474373 | CV1217791 | single nucleotide variant | NM_005151.4(USP14):c.943-17A>C | not provided [RCV001615802] | benign | 18 | 203081 | 203081 | Human | | name |
| 401729991 | CV2683893 | single nucleotide variant | NM_001371072.1(USP11):c.-20G>A | not specified [RCV004284614] | uncertain significance | X | 47233024 | 47233024 | Human | | name |
| 401907041 | CV2795694 | single nucleotide variant | NM_017414.4(USP18):c.892-57G>A | not specified [RCV003397046] | benign | 22 | 18173093 | 18173093 | Human | | name |
| 597798355 | CV3626091 | single nucleotide variant | NM_001371072.1(USP11):c.-33A>C | not specified [RCV004879150] | uncertain significance | X | 47233011 | 47233011 | Human | | name |
| 15178338 | CV777394 | single nucleotide variant | NM_003940.3(USP13):c.1921+5C>T | not provided [RCV000951256] | benign | 3 | 179754859 | 179754859 | Human | | name |
| 15163417 | CV778450 | single nucleotide variant | NM_006447.3(USP16):c.2011+9A>G | not provided [RCV000948081] | benign | 21 | 29047330 | 29047330 | Human | | name |
| 21405320 | CV799090 | single nucleotide variant | NM_017414.4(USP18):c.1073+1G>A | Pseudo-TORCH syndrome 2 [RCV001000098] | pathogenic|likely pathogenic | 22 | 18173843 | 18173843 | Human | 1 | name , alternate_id |
| 8582730 | CV117286 | single nucleotide variant | NM_182488.3(USP12):c.48+8143A>C | Lung cancer [RCV000097807] | uncertain significance | 13 | 27163449 | 27163449 | Human | | name |
| 401907007 | CV2795700 | single nucleotide variant | NM_017414.4(USP18):c.-106-25G>A | not specified [RCV003397052] | benign | 22 | 18157533 | 18157533 | Human | | name |
| 404983301 | CV2849189 | single nucleotide variant | NM_017414.4(USP18):c.401-100A>G | not specified [RCV003489061] | benign | 22 | 18167155 | 18167155 | Human | | name |
| 8578425 | CV112806 | single nucleotide variant | NM_003940.2(USP13):c.806-3824G>A | Lung cancer [RCV000093329] | uncertain significance | 3 | 179716116 | 179716116 | Human | | name |
| 8578426 | CV112807 | single nucleotide variant | NM_003940.2(USP13):c.1254+1159C>G | Lung cancer [RCV000093330] | uncertain significance | 3 | 179731868 | 179731868 | Human | | name |
| 8578427 | CV112808 | single nucleotide variant | NM_003940.2(USP13):c.1709+3499G>A | Lung cancer [RCV000093331] | uncertain significance | 3 | 179748716 | 179748716 | Human | | name |
| 15153717 | CV730222 | single nucleotide variant | NM_001199161.2(USP19):c.2292+7T>C | not provided [RCV000880066] | benign | 3 | 49114756 | 49114756 | Human | | name |
| 15196070 | CV777426 | single nucleotide variant | NM_001199161.2(USP19):c.3698+8G>T | not provided [RCV000956095] | benign | 3 | 49110703 | 49110703 | Human | | name |
| 405274642 | CV3209046 | single nucleotide variant | NM_001371072.1(USP11):c.1843+49C>A | USP11-related disorder [RCV003951804] | likely benign | X | 47244599 | 47244599 | Human | | name , trait , alternate_id |
| 408365742 | CV3509392 | single nucleotide variant | NM_001252078.2(USP15):c.1652+10A>G | USP15-related disorder [RCV004755213] | likely benign | 12 | 62389709 | 62389709 | Human | | name , trait , alternate_id |
| 156087523 | CV2366401 | single nucleotide variant | NM_001199161.2(USP19):c.4039-543A>T | not specified [RCV004212448] | uncertain significance | 3 | 49109071 | 49109071 | Human | | name |
| 329380672 | CV2440389 | single nucleotide variant | NM_001199161.2(USP19):c.4039-482C>G | not specified [RCV004263236] | uncertain significance | 3 | 49109010 | 49109010 | Human | | name |
| 329392031 | CV2445168 | single nucleotide variant | NM_001199161.2(USP19):c.4039-477G>A | not specified [RCV004263807] | uncertain significance | 3 | 49109005 | 49109005 | Human | | name |
| 401761997 | CV2726995 | single nucleotide variant | NM_001199161.2(USP19):c.4039-599G>A | not specified [RCV004325059] | uncertain significance | 3 | 49109127 | 49109127 | Human | | name |
| 401890428 | CV2778706 | single nucleotide variant | NM_001199161.2(USP19):c.4039-591G>A | not specified [RCV004346620] | uncertain significance | 3 | 49109119 | 49109119 | Human | | name |
| 401891624 | CV2779260 | single nucleotide variant | NM_001199161.2(USP19):c.4039-518G>A | not specified [RCV004350944] | uncertain significance | 3 | 49109046 | 49109046 | Human | | name |
| 597722585 | CV3626170 | single nucleotide variant | NM_001199161.2(USP19):c.4039-440G>A | not specified [RCV004888038] | uncertain significance | 3 | 49108968 | 49108968 | Human | | name |
| 15201141 | CV748360 | single nucleotide variant | NM_001199161.2(USP19):c.4039-607G>A | not provided [RCV000913052] | likely benign | 3 | 49109135 | 49109135 | Human | | name |
| 156057777 | CV2383258 | single nucleotide variant | NM_017414.4(USP18):c.907G>A (p.Glu303Lys) | Inborn genetic diseases [RCV002693230]|Pseudo-TORCH syndrome 2 [RCV003140220] | uncertain significance | 22 | 18173165 | 18173165 | Human | 2 | name , alternate_id |
| 597720876 | CV3415481 | single nucleotide variant | NM_017414.4(USP18):c.772C>T (p.Arg258Ter) | Pseudo-TORCH syndrome 2 [RCV005052897] | pathogenic | 22 | 18170801 | 18170801 | Human | 1 | name , alternate_id |
| 598121825 | CV3883454 | single nucleotide variant | NM_017414.4(USP18):c.358C>T (p.Pro120Ser) | Pseudo-TORCH syndrome 2 [RCV005235829] | uncertain significance | 22 | 18161893 | 18161893 | Human | 1 | name , alternate_id |
| 12892638 | CV404675 | single nucleotide variant | NM_017414.4(USP18):c.652C>T (p.Gln218Ter) | Pseudo-TORCH syndrome 2 [RCV000477724] | pathogenic|likely pathogenic | 22 | 18169868 | 18169868 | Human | 1 | name , alternate_id |
| 12892607 | CV404676 | deletion | USP18, 3-PRIME DEL | Pseudo-TORCH syndrome 2 [RCV000477666] | pathogenic | | | | Human | 1 | name , alternate_id |
| 42722883 | CV985382 | insertion | NM_017414.4(USP18):c.840_841insCA (p.Phe281fs) | Pseudo-TORCH syndrome 2 [RCV001292879] | pathogenic | 22 | 18170869 | 18170870 | Human | | name , alternate_id |
| 156284708 | CV2349040 | single nucleotide variant | NM_001252078.2(USP15):c.1310T>C (p.Ile437Thr) | USP15-related disorder [RCV003946392]|not specified [RCV004205481] | likely benign|uncertain significance | 12 | 62384139 | 62384139 | Human | | name , trait , alternate_id |
| 156284719 | CV2349041 | single nucleotide variant | NM_001252078.2(USP15):c.2061T>G (p.Asp687Glu) | USP15-related disorder [RCV003946393]|not specified [RCV004205482] | likely benign|uncertain significance | 12 | 62391257 | 62391257 | Human | | name , trait , alternate_id |
| 401926693 | CV2798729 | single nucleotide variant | NM_001252078.2(USP15):c.1506A>G (p.Ile502Met) | USP15-related disorder [RCV003406017] | uncertain significance | 12 | 62389463 | 62389463 | Human | | name , trait , alternate_id |
| 405284589 | CV3190475 | single nucleotide variant | NM_001252078.2(USP15):c.1371A>G (p.Thr457=) | USP15-related disorder [RCV003909284] | likely benign | 12 | 62384200 | 62384200 | Human | | name , trait , alternate_id |
| 405258105 | CV3208130 | single nucleotide variant | NM_001252078.2(USP15):c.801A>G (p.Ser267=) | USP15-related disorder [RCV003941577] | likely benign | 12 | 62355361 | 62355361 | Human | | name , trait , alternate_id |
| 405274393 | CV3211732 | single nucleotide variant | NM_001252078.2(USP15):c.1602C>T (p.Phe534=) | USP15-related disorder [RCV003951532] | likely benign | 12 | 62389649 | 62389649 | Human | | name , trait , alternate_id |
| 405262166 | CV3216704 | single nucleotide variant | NM_001252078.2(USP15):c.1572T>C (p.Asp524=) | USP15-related disorder [RCV003944683] | likely benign | 12 | 62389619 | 62389619 | Human | | name , trait , alternate_id |
| 405277252 | CV3217709 | single nucleotide variant | NM_001252078.2(USP15):c.2301T>C (p.Ala767=) | USP15-related disorder [RCV003974774] | benign | 12 | 62391883 | 62391883 | Human | | name , trait , alternate_id |
| 405287801 | CV3217967 | single nucleotide variant | NM_001252078.2(USP15):c.246C>T (p.His82=) | USP15-related disorder [RCV003982090] | benign | 12 | 62302818 | 62302818 | Human | | name , trait , alternate_id |
| 405287822 | CV3217978 | single nucleotide variant | NM_001252078.2(USP15):c.1455A>G (p.Pro485=) | USP15-related disorder [RCV003982102] | benign | 12 | 62384284 | 62384284 | Human | | name , trait , alternate_id |
| 15106441 | CV773422 | single nucleotide variant | NM_017414.4(USP18):c.97G>A (p.Asp33Asn) | USP18-related disorder [RCV003925825]|not provided [RCV000937779] | likely benign | 22 | 18157760 | 18157760 | Human | 1 | name , trait , alternate_id |
| 156104822 | CV2311077 | single nucleotide variant | NM_005153.3(USP10):c.7C>T (p.Leu3Phe) | not specified [RCV004164078] | uncertain significance | 16 | 84700097 | 84700097 | Human | | name |
| 155929445 | CV2363528 | single nucleotide variant | NM_017414.4(USP18):c.5G>A (p.Ser2Asn) | Inborn genetic diseases [RCV002683956] | uncertain significance | 22 | 18157668 | 18157668 | Human | 1 | name |
| 597722356 | CV3626094 | single nucleotide variant | NM_182488.4(USP12):c.63G>A (p.Ser21=) | not specified [RCV004888014] | likely benign | 13 | 27116582 | 27116582 | Human | | name |
| 156194716 | CV2297142 | single nucleotide variant | NM_003940.3(USP13):c.11G>A (p.Arg4Gln) | not specified [RCV004151040] | uncertain significance | 3 | 179653236 | 179653236 | Human | | name |
| 155984463 | CV2344422 | single nucleotide variant | NM_003940.3(USP13):c.16G>T (p.Ala6Ser) | not specified [RCV004195168] | uncertain significance | 3 | 179653241 | 179653241 | Human | | name |
| 401925679 | CV2820915 | single nucleotide variant | NM_201402.3(USP17L2):c.18C>G (p.Leu6=) | not provided [RCV003436757] | likely benign | 8 | 12138743 | 12138743 | Human | | name |
| 405814622 | CV3341597 | single nucleotide variant | NM_005153.3(USP10):c.16C>T (p.Pro6Ser) | not specified [RCV004484483] | uncertain significance | 16 | 84700106 | 84700106 | Human | | name |
| 597798406 | CV3626126 | single nucleotide variant | NM_006447.3(USP16):c.23G>A (p.Gly8Glu) | not specified [RCV004879168] | uncertain significance | 21 | 29027936 | 29027936 | Human | | name |
| 15097646 | CV727656 | single nucleotide variant | NM_005151.4(USP14):c.105G>A (p.Ala35=) | not provided [RCV000891550] | benign | 18 | 163396 | 163396 | Human | | name |
| 15129216 | CV742734 | single nucleotide variant | NM_017414.4(USP18):c.219C>T (p.Phe73=) | not provided [RCV000897403] | likely benign | 22 | 18160233 | 18160233 | Human | | name |
| 156030758 | CV2202527 | single nucleotide variant | NM_017414.4(USP18):c.80A>G (p.Glu27Gly) | Inborn genetic diseases [RCV002691561] | uncertain significance | 22 | 18157743 | 18157743 | Human | 1 | name |
| 156330717 | CV2210687 | single nucleotide variant | NM_003940.3(USP13):c.80T>G (p.Leu27Arg) | not specified [RCV004083828] | uncertain significance | 3 | 179653305 | 179653305 | Human | | name |
| 155975334 | CV2270064 | single nucleotide variant | NM_003940.3(USP13):c.41G>A (p.Ser14Asn) | not specified [RCV004129038] | uncertain significance | 3 | 179653266 | 179653266 | Human | | name |
| 155908401 | CV2302422 | single nucleotide variant | NM_005153.3(USP10):c.63C>A (p.Phe21Leu) | not specified [RCV004161164] | uncertain significance | 16 | 84733476 | 84733476 | Human | | name |
| 156347137 | CV2353895 | single nucleotide variant | NM_005153.3(USP10):c.71C>T (p.Thr24Ile) | not specified [RCV004201893] | uncertain significance | 16 | 84733484 | 84733484 | Human | | name |
| 401732076 | CV2690284 | single nucleotide variant | NM_006447.3(USP16):c.70T>A (p.Cys24Ser) | not specified [RCV004302281] | uncertain significance | 21 | 29030603 | 29030603 | Human | | name |
| 401730731 | CV2711469 | single nucleotide variant | NM_005153.3(USP10):c.56A>G (p.Asn19Ser) | not specified [RCV004306791] | uncertain significance | 16 | 84733469 | 84733469 | Human | | name |
| 401762582 | CV2719985 | single nucleotide variant | NM_017414.4(USP18):c.534C>T (p.Cys178=) | Inborn genetic diseases [RCV003300255] | likely benign | 22 | 18167943 | 18167943 | Human | 1 | name |
| 401865655 | CV2778861 | single nucleotide variant | NM_005151.4(USP14):c.50G>A (p.Gly17Asp) | not specified [RCV004346750] | uncertain significance | 18 | 163341 | 163341 | Human | | name |
| 401926882 | CV2821607 | single nucleotide variant | NM_001371072.1(USP11):c.12C>T (p.Val4=) | not provided [RCV003438191] | likely benign | X | 47233055 | 47233055 | Human | | name |
| 405814619 | CV3341618 | single nucleotide variant | NM_182488.4(USP12):c.74A>G (p.Lys25Arg) | not specified [RCV004484504] | uncertain significance | 13 | 27116571 | 27116571 | Human | | name |
| 405814640 | CV3341630 | single nucleotide variant | NM_003940.3(USP13):c.61G>A (p.Ala21Thr) | not specified [RCV004484516] | uncertain significance | 3 | 179653286 | 179653286 | Human | | name |
| 405814655 | CV3341639 | single nucleotide variant | NM_005151.4(USP14):c.79A>G (p.Met27Val) | not specified [RCV004484525] | uncertain significance | 18 | 163370 | 163370 | Human | | name |
| 407455226 | CV3487430 | single nucleotide variant | NM_006447.3(USP16):c.49T>G (p.Ser17Ala) | not specified [RCV004685442] | uncertain significance | 21 | 29027962 | 29027962 | Human | | name |
| 597798358 | CV3626093 | single nucleotide variant | NM_182488.4(USP12):c.52G>A (p.Ala18Thr) | not specified [RCV004879151] | uncertain significance | 13 | 27116593 | 27116593 | Human | | name |
| 597798377 | CV3626108 | single nucleotide variant | NM_003940.3(USP13):c.43G>C (p.Gly15Arg) | not specified [RCV004879158] | uncertain significance | 3 | 179653268 | 179653268 | Human | | name |
| 597642864 | CV3626165 | single nucleotide variant | NM_017414.4(USP18):c.35G>A (p.Cys12Tyr) | Inborn genetic diseases [RCV004971983] | uncertain significance | 22 | 18157698 | 18157698 | Human | 1 | name |
| 598203482 | CV3936440 | single nucleotide variant | NM_182488.4(USP12):c.31G>T (p.Ala11Ser) | not specified [RCV005290541] | uncertain significance | 13 | 27171609 | 27171609 | Human | | name |
| 598275132 | CV3936452 | single nucleotide variant | NM_005151.4(USP14):c.29G>T (p.Trp10Leu) | not specified [RCV005304275] | uncertain significance | 18 | 163320 | 163320 | Human | | name |
| 598275144 | CV3936462 | single nucleotide variant | NM_006447.3(USP16):c.40G>T (p.Asp14Tyr) | not specified [RCV005304281] | uncertain significance | 21 | 29027953 | 29027953 | Human | | name |
| 598275162 | CV3936485 | single nucleotide variant | NM_017414.4(USP18):c.43A>T (p.Ile15Phe) | Inborn genetic diseases [RCV005304296] | uncertain significance | 22 | 18157706 | 18157706 | Human | 1 | name |
| 15178838 | CV717291 | single nucleotide variant | NM_017414.4(USP18):c.73G>A (p.Asp25Asn) | not provided [RCV000973762] | benign | 22 | 18157736 | 18157736 | Human | | name |
| 15153832 | CV720309 | single nucleotide variant | NM_003940.3(USP13):c.642C>T (p.Cys214=) | not provided [RCV000880090] | benign | 3 | 179708794 | 179708794 | Human | | name |
| 15112464 | CV728851 | single nucleotide variant | NM_006447.3(USP16):c.753T>G (p.Leu251=) | not provided [RCV000894474] | benign | 21 | 29039046 | 29039046 | Human | | name |
| 15157148 | CV757921 | single nucleotide variant | NM_017414.4(USP18):c.948C>T (p.Ser316=) | not provided [RCV000924803] | likely benign | 22 | 18173206 | 18173206 | Human | | name |
| 15119143 | CV773423 | single nucleotide variant | NM_017414.4(USP18):c.633C>T (p.Asp211=) | not provided [RCV000940134] | benign | 22 | 18169849 | 18169849 | Human | | name |
| 15181319 | CV773424 | single nucleotide variant | NM_017414.4(USP18):c.798G>A (p.Thr266=) | not provided [RCV000930097] | likely benign | 22 | 18170827 | 18170827 | Human | | name |
| 15106684 | CV786547 | single nucleotide variant | NM_017414.4(USP18):c.894T>C (p.Ser298=) | not provided [RCV000976677] | likely benign | 22 | 18173152 | 18173152 | Human | | name |
| 156152537 | CV2209371 | single nucleotide variant | NM_017414.4(USP18):c.113G>A (p.Arg38Lys) | Inborn genetic diseases [RCV002697735] | uncertain significance | 22 | 18157776 | 18157776 | Human | 1 | name |
| 156232647 | CV2245182 | single nucleotide variant | NM_005153.3(USP10):c.200C>A (p.Pro67His) | not specified [RCV004106963] | uncertain significance | 16 | 84744681 | 84744681 | Human | | name |
| 156267332 | CV2296621 | single nucleotide variant | NM_005151.4(USP14):c.227A>T (p.Asp76Val) | not specified [RCV004154679] | uncertain significance | 18 | 178964 | 178964 | Human | | name |
| 156038956 | CV2313693 | single nucleotide variant | NM_005151.4(USP14):c.136G>A (p.Val46Ile) | not specified [RCV004157611] | uncertain significance | 18 | 163427 | 163427 | Human | | name |
| 156353172 | CV2324115 | single nucleotide variant | NM_006447.3(USP16):c.169G>A (p.Val57Met) | not specified [RCV004178402] | uncertain significance | 21 | 29030702 | 29030702 | Human | | name |
| 156175565 | CV2327032 | single nucleotide variant | NM_005153.3(USP10):c.176T>A (p.Phe59Tyr) | not specified [RCV004178621] | uncertain significance | 16 | 84744657 | 84744657 | Human | | name |
| 155919050 | CV2333121 | single nucleotide variant | NM_005153.3(USP10):c.245C>T (p.Thr82Ile) | not specified [RCV004194414] | uncertain significance | 16 | 84744726 | 84744726 | Human | | name |
| 329392216 | CV2441319 | single nucleotide variant | NM_003940.3(USP13):c.160G>A (p.Asp54Asn) | not specified [RCV004257133] | uncertain significance | 3 | 179653385 | 179653385 | Human | | name |
| 329397123 | CV2456618 | single nucleotide variant | NM_003940.3(USP13):c.179G>A (p.Gly60Asp) | not specified [RCV004277807] | uncertain significance | 3 | 179681888 | 179681888 | Human | | name |
| 401866797 | CV2759009 | single nucleotide variant | NM_005151.4(USP14):c.281A>G (p.Glu94Gly) | not specified [RCV004342318] | uncertain significance | 18 | 179018 | 179018 | Human | | name |
| 401925677 | CV2820913 | single nucleotide variant | NM_201402.3(USP17L2):c.291C>T (p.Cys97=) | not provided [RCV003436755] | likely benign | 8 | 12138470 | 12138470 | Human | | name |
| 404991303 | CV2852609 | single nucleotide variant | NM_017414.4(USP18):c.220G>A (p.Val74Ile) | not specified [RCV003490794] | uncertain significance | 22 | 18160234 | 18160234 | Human | | name |
| 405814587 | CV3341601 | single nucleotide variant | NM_005153.3(USP10):c.218G>C (p.Arg73Thr) | not specified [RCV004484487] | uncertain significance | 16 | 84744699 | 84744699 | Human | | name |
| 405814617 | CV3341617 | single nucleotide variant | NM_182488.4(USP12):c.245C>A (p.Thr82Lys) | not specified [RCV004484503] | uncertain significance | 13 | 27105829 | 27105829 | Human | | name |
| 405814673 | CV3341649 | single nucleotide variant | NM_006447.3(USP16):c.193A>G (p.Thr65Ala) | not specified [RCV004484535] | uncertain significance | 21 | 29030726 | 29030726 | Human | | name |
| 407462592 | CV3487402 | single nucleotide variant | NM_005153.3(USP10):c.165G>C (p.Gln55His) | not specified [RCV004688013] | uncertain significance | 16 | 84744646 | 84744646 | Human | | name |
| 407455143 | CV3487408 | single nucleotide variant | NM_003940.3(USP13):c.161A>C (p.Asp54Ala) | not specified [RCV004685422] | uncertain significance | 3 | 179653386 | 179653386 | Human | | name |
| 407455145 | CV3487439 | single nucleotide variant | NM_017414.4(USP18):c.166G>T (p.Gly56Cys) | Inborn genetic diseases [RCV004685451] | uncertain significance | 22 | 18160180 | 18160180 | Human | 1 | name |
| 597791427 | CV3626068 | single nucleotide variant | NM_005153.3(USP10):c.293A>G (p.Lys98Arg) | not specified [RCV004876657] | uncertain significance | 16 | 84744774 | 84744774 | Human | | name |
| 597722288 | CV3626080 | single nucleotide variant | NM_005153.3(USP10):c.206A>T (p.Asp69Val) | not specified [RCV004888009] | uncertain significance | 16 | 84744687 | 84744687 | Human | | name |
| 597798367 | CV3626099 | single nucleotide variant | NM_003940.3(USP13):c.1089G>A (p.Ala363=) | not specified [RCV004879154] | likely benign | 3 | 179730189 | 179730189 | Human | | name |
| 597722412 | CV3626103 | single nucleotide variant | NM_003940.3(USP13):c.2001G>A (p.Pro667=) | not specified [RCV004888018] | likely benign | 3 | 179761164 | 179761164 | Human | | name |
| 597722480 | CV3626120 | single nucleotide variant | NM_006447.3(USP16):c.241G>A (p.Gly81Ser) | not specified [RCV004888024] | uncertain significance | 21 | 29034837 | 29034837 | Human | | name |
| 597798414 | CV3626134 | single nucleotide variant | NM_006447.3(USP16):c.296G>C (p.Arg99Thr) | not specified [RCV004879171] | uncertain significance | 21 | 29034892 | 29034892 | Human | | name |
| 597642534 | CV3626159 | single nucleotide variant | NM_017414.4(USP18):c.239C>T (p.Thr80Ile) | Inborn genetic diseases [RCV004971977] | uncertain significance | 22 | 18160253 | 18160253 | Human | 1 | name |
| 598275136 | CV3936454 | single nucleotide variant | NM_005151.4(USP14):c.226G>C (p.Asp76His) | not specified [RCV005304277] | uncertain significance | 18 | 178963 | 178963 | Human | | name |
| 598275161 | CV3936484 | single nucleotide variant | NM_017414.4(USP18):c.244A>G (p.Ile82Val) | Inborn genetic diseases [RCV005304295] | uncertain significance | 22 | 18160258 | 18160258 | Human | 1 | name |
| 598203617 | CV3936489 | single nucleotide variant | NM_017414.4(USP18):c.268A>G (p.Arg90Gly) | Inborn genetic diseases [RCV005290563] | uncertain significance | 22 | 18161803 | 18161803 | Human | 1 | name |
| 15097960 | CV704547 | single nucleotide variant | NM_005151.4(USP14):c.1395G>T (p.Arg465=) | not provided [RCV000958438] | benign | 18 | 211194 | 211194 | Human | | name |
| 15167921 | CV708691 | single nucleotide variant | NM_003940.3(USP13):c.1476G>A (p.Thr492=) | not provided [RCV000971501] | benign | 3 | 179742292 | 179742292 | Human | | name |
| 15168653 | CV715894 | single nucleotide variant | NM_005151.4(USP14):c.1074G>C (p.Leu358=) | not provided [RCV000971659] | benign | 18 | 204602 | 204602 | Human | | name |
| 15123076 | CV715895 | single nucleotide variant | NM_005151.4(USP14):c.1428C>T (p.Tyr476=) | not provided [RCV000963178] | likely benign | 18 | 211227 | 211227 | Human | | name |
| 15122510 | CV741305 | single nucleotide variant | NM_005151.4(USP14):c.1293T>C (p.Ser431=) | not provided [RCV000896251] | benign | 18 | 210453 | 210453 | Human | | name |
| 15126117 | CV756384 | single nucleotide variant | NM_005151.4(USP14):c.1057T>C (p.Leu353=) | not provided [RCV000919269] | likely benign | 18 | 204585 | 204585 | Human | | name |
| 15199484 | CV756385 | single nucleotide variant | NM_005151.4(USP14):c.1314A>G (p.Ser438=) | not provided [RCV000912560] | likely benign | 18 | 210474 | 210474 | Human | | name |
| 15104884 | CV756386 | single nucleotide variant | NM_005151.4(USP14):c.1386T>C (p.Asp462=) | not provided [RCV000915437] | likely benign | 18 | 211185 | 211185 | Human | | name |
| 15120422 | CV757922 | single nucleotide variant | NM_017414.4(USP18):c.1017T>A (p.Ile339=) | not provided [RCV000918319] | likely benign | 22 | 18173275 | 18173275 | Human | | name |
| 8626517 | CV81661 | single nucleotide variant | NM_201402.2(USP17L2):c.283C>T (p.Leu95=) | Malignant melanoma [RCV000061739] | not provided | 8 | 12138478 | 12138478 | Human | | name |
| 8632815 | CV88030 | single nucleotide variant | NM_201402.2(USP17L2):c.195G>A (p.Arg65=) | Malignant melanoma [RCV000068122] | not provided | 8 | 12138566 | 12138566 | Human | | name |
| 8637872 | CV93098 | single nucleotide variant | NM_004651.3(USP11):c.2019G>A (p.Gly673=) | Malignant melanoma [RCV000073196] | not provided | X | 47244728 | 47244728 | Human | | name |
| 156066407 | CV2193339 | single nucleotide variant | NM_005153.3(USP10):c.473G>A (p.Gly158Glu) | not specified [RCV004072844] | uncertain significance | 16 | 84744954 | 84744954 | Human | | name |
| 156320636 | CV2197360 | single nucleotide variant | NM_005153.3(USP10):c.998C>G (p.Thr333Ser) | not specified [RCV004081102] | uncertain significance | 16 | 84745479 | 84745479 | Human | | name |
| 155919115 | CV2202391 | single nucleotide variant | NM_005153.3(USP10):c.505G>C (p.Asp169His) | not specified [RCV004080706] | uncertain significance | 16 | 84744986 | 84744986 | Human | | name |
| 156381348 | CV2214896 | single nucleotide variant | NM_003940.3(USP13):c.904G>A (p.Glu302Lys) | not specified [RCV004084689] | uncertain significance | 3 | 179721405 | 179721405 | Human | | name |
| 156038400 | CV2214944 | single nucleotide variant | NM_006447.3(USP16):c.557C>T (p.Pro186Leu) | not specified [RCV004084727] | uncertain significance | 21 | 29037384 | 29037384 | Human | | name |
| 156057374 | CV2239086 | single nucleotide variant | NM_006447.3(USP16):c.503G>A (p.Ser168Asn) | not specified [RCV004112090] | uncertain significance | 21 | 29037330 | 29037330 | Human | | name |
| 155984309 | CV2241106 | single nucleotide variant | NM_182488.4(USP12):c.313A>G (p.Lys105Glu) | not specified [RCV004104141] | uncertain significance | 13 | 27105761 | 27105761 | Human | | name |
| 156302497 | CV2241772 | single nucleotide variant | NM_006447.3(USP16):c.538A>G (p.Met180Val) | not specified [RCV004106708] | uncertain significance | 21 | 29037365 | 29037365 | Human | | name |
| 156154743 | CV2242361 | single nucleotide variant | NM_017414.4(USP18):c.511C>T (p.Arg171Trp) | Inborn genetic diseases [RCV002787117] | uncertain significance | 22 | 18167920 | 18167920 | Human | 1 | name |
| 155980229 | CV2243931 | single nucleotide variant | NM_005153.3(USP10):c.307G>T (p.Gly103Cys) | not specified [RCV004108437] | uncertain significance | 16 | 84744788 | 84744788 | Human | | name |
| 155993046 | CV2253532 | single nucleotide variant | NM_017414.4(USP18):c.712C>A (p.Arg238Ser) | Inborn genetic diseases [RCV002793847] | uncertain significance | 22 | 18169928 | 18169928 | Human | 1 | name |
| 155915183 | CV2264956 | single nucleotide variant | NM_017414.4(USP18):c.947C>G (p.Ser316Cys) | Inborn genetic diseases [RCV002858847] | uncertain significance | 22 | 18173205 | 18173205 | Human | 1 | name |
| 156363536 | CV2265757 | single nucleotide variant | NM_005151.4(USP14):c.851A>T (p.Lys284Met) | not specified [RCV004124465] | uncertain significance | 18 | 199291 | 199291 | Human | | name |
| 156234777 | CV2271252 | single nucleotide variant | NM_017414.4(USP18):c.355C>T (p.Arg119Trp) | Inborn genetic diseases [RCV002853869] | uncertain significance | 22 | 18161890 | 18161890 | Human | 1 | name |
| 156279488 | CV2297683 | single nucleotide variant | NM_006447.3(USP16):c.601T>A (p.Leu201Met) | not specified [RCV004155366] | uncertain significance | 21 | 29037428 | 29037428 | Human | | name |
| 156165449 | CV2315170 | single nucleotide variant | NM_005153.3(USP10):c.677G>T (p.Ser226Ile) | not specified [RCV004165345] | uncertain significance | 16 | 84745158 | 84745158 | Human | | name |
| 156063177 | CV2316735 | single nucleotide variant | NM_006447.3(USP16):c.760C>G (p.Pro254Ala) | not specified [RCV004171958] | uncertain significance | 21 | 29039053 | 29039053 | Human | | name |
| 156357405 | CV2318290 | single nucleotide variant | NM_003940.3(USP13):c.812A>T (p.Tyr271Phe) | not specified [RCV004179462] | uncertain significance | 3 | 179719946 | 179719946 | Human | | name |
| 156279028 | CV2325177 | single nucleotide variant | NM_005153.3(USP10):c.314C>G (p.Thr105Ser) | not specified [RCV004177594] | uncertain significance | 16 | 84744795 | 84744795 | Human | | name |
| 156253635 | CV2325548 | single nucleotide variant | NM_003940.3(USP13):c.971G>A (p.Gly324Asp) | not specified [RCV004179981] | uncertain significance | 3 | 179721472 | 179721472 | Human | | name |
| 156284832 | CV2334796 | single nucleotide variant | NM_006447.3(USP16):c.914G>A (p.Arg305His) | not specified [RCV004181911] | uncertain significance | 21 | 29039531 | 29039531 | Human | | name |
| 156181727 | CV2338148 | single nucleotide variant | NM_005153.3(USP10):c.320A>G (p.Glu107Gly) | not specified [RCV004184179] | uncertain significance | 16 | 84744801 | 84744801 | Human | | name |
| 156035576 | CV2338931 | single nucleotide variant | NM_005153.3(USP10):c.446G>A (p.Arg149His) | not specified [RCV004184521] | uncertain significance | 16 | 84744927 | 84744927 | Human | | name |
| 156131243 | CV2358230 | single nucleotide variant | NM_006447.3(USP16):c.983G>C (p.Gly328Ala) | not specified [RCV004212022] | uncertain significance | 21 | 29040640 | 29040640 | Human | | name |
| 156212246 | CV2378391 | single nucleotide variant | NM_005153.3(USP10):c.565G>C (p.Val189Leu) | not specified [RCV004226410] | uncertain significance | 16 | 84745046 | 84745046 | Human | | name |
| 155906661 | CV2379090 | single nucleotide variant | NM_005153.3(USP10):c.932A>C (p.Asp311Ala) | not specified [RCV004233844] | uncertain significance | 16 | 84745413 | 84745413 | Human | | name |
| 156183767 | CV2382272 | single nucleotide variant | NM_005153.3(USP10):c.701G>A (p.Ser234Asn) | not specified [RCV004228212] | uncertain significance | 16 | 84745182 | 84745182 | Human | | name |
| 155952693 | CV2393814 | single nucleotide variant | NM_001371072.1(USP11):c.17C>T (p.Ala6Val) | not specified [RCV004233644] | uncertain significance | X | 47233060 | 47233060 | Human | | name |
| 156153271 | CV2394951 | single nucleotide variant | NM_003940.3(USP13):c.544T>C (p.Trp182Arg) | not specified [RCV004234599] | uncertain significance | 3 | 179707000 | 179707000 | Human | | name |
| 156004082 | CV2400948 | single nucleotide variant | NM_001371072.1(USP11):c.23C>T (p.Pro8Leu) | not specified [RCV004244236] | uncertain significance | X | 47233066 | 47233066 | Human | | name |
| 329367211 | CV2427275 | single nucleotide variant | NM_005153.3(USP10):c.388G>A (p.Val130Met) | not specified [RCV004248140] | uncertain significance | 16 | 84744869 | 84744869 | Human | | name |
| 329385893 | CV2428133 | single nucleotide variant | NM_006447.3(USP16):c.719A>T (p.Asp240Val) | not specified [RCV004251175] | uncertain significance | 21 | 29038417 | 29038417 | Human | | name |
| 329378236 | CV2446905 | single nucleotide variant | NM_005153.3(USP10):c.367G>A (p.Ala123Thr) | not specified [RCV004257751] | uncertain significance | 16 | 84744848 | 84744848 | Human | | name |
| 329386762 | CV2452497 | single nucleotide variant | NM_003940.3(USP13):c.741G>T (p.Glu247Asp) | not specified [RCV004273097] | uncertain significance | 3 | 179708893 | 179708893 | Human | | name |
| 329390916 | CV2455596 | single nucleotide variant | NM_003940.3(USP13):c.376T>G (p.Leu126Val) | not specified [RCV004276846] | uncertain significance | 3 | 179701028 | 179701028 | Human | | name |
| 329375987 | CV2467406 | single nucleotide variant | NM_005151.4(USP14):c.835A>G (p.Ile279Val) | not specified [RCV004287024] | uncertain significance | 18 | 199275 | 199275 | Human | | name |
| 329352687 | CV2470321 | single nucleotide variant | NM_003940.3(USP13):c.628A>G (p.Lys210Glu) | not specified [RCV004279715] | uncertain significance | 3 | 179708780 | 179708780 | Human | | name |
| 401745240 | CV2681225 | single nucleotide variant | NM_005153.3(USP10):c.332G>T (p.Gly111Val) | not specified [RCV004289363] | uncertain significance | 16 | 84744813 | 84744813 | Human | | name |
| 401762705 | CV2714243 | single nucleotide variant | NM_005153.3(USP10):c.907G>C (p.Glu303Gln) | not specified [RCV004317467] | uncertain significance | 16 | 84745388 | 84745388 | Human | | name |
| 401889350 | CV2759785 | single nucleotide variant | NM_182488.4(USP12):c.506C>G (p.Pro169Arg) | not specified [RCV004342825] | uncertain significance | 13 | 27095668 | 27095668 | Human | | name |
| 401876547 | CV2767629 | single nucleotide variant | NM_006447.3(USP16):c.796A>T (p.Asn266Tyr) | not specified [RCV004343772] | uncertain significance | 21 | 29039089 | 29039089 | Human | | name |
| 401891439 | CV2769198 | single nucleotide variant | NM_182488.4(USP12):c.530A>G (p.Gln177Arg) | not specified [RCV004349036] | uncertain significance | 13 | 27095644 | 27095644 | Human | | name |
| 401893956 | CV2770155 | single nucleotide variant | NM_003940.3(USP13):c.959T>C (p.Ile320Thr) | not specified [RCV004356053] | uncertain significance | 3 | 179721460 | 179721460 | Human | | name |
| 401886353 | CV2771189 | single nucleotide variant | NM_017414.4(USP18):c.672C>G (p.Ser224Arg) | Inborn genetic diseases [RCV003351953] | uncertain significance | 22 | 18169888 | 18169888 | Human | 1 | name |
| 401882882 | CV2775145 | single nucleotide variant | NM_005153.3(USP10):c.964C>A (p.Pro322Thr) | not specified [RCV004346502] | uncertain significance | 16 | 84745445 | 84745445 | Human | | name |
| 401879195 | CV2778239 | single nucleotide variant | NM_005153.3(USP10):c.820G>A (p.Val274Ile) | not specified [RCV004349955] | uncertain significance | 16 | 84745301 | 84745301 | Human | | name |
| 401896339 | CV2781079 | single nucleotide variant | NM_005153.3(USP10):c.614C>A (p.Thr205Lys) | not specified [RCV004358457] | uncertain significance | 16 | 84745095 | 84745095 | Human | | name |
| 401877124 | CV2793356 | single nucleotide variant | NM_005151.4(USP14):c.736T>A (p.Phe246Ile) | not specified [RCV004362166] | uncertain significance | 18 | 198107 | 198107 | Human | | name |
| 401907068 | CV2795723 | single nucleotide variant | NM_017414.4(USP18):c.506C>T (p.Thr169Met) | not specified [RCV003397075] | benign | 22 | 18167915 | 18167915 | Human | | name |
| 405814592 | CV3341604 | single nucleotide variant | NM_005153.3(USP10):c.323C>T (p.Ala108Val) | not specified [RCV004484490] | likely benign | 16 | 84744804 | 84744804 | Human | | name |
| 405814594 | CV3341605 | single nucleotide variant | NM_005153.3(USP10):c.658A>G (p.Ser220Gly) | not specified [RCV004484491] | uncertain significance | 16 | 84745139 | 84745139 | Human | | name |
| 405814596 | CV3341606 | single nucleotide variant | NM_005153.3(USP10):c.742G>A (p.Ala248Thr) | not specified [RCV004484492] | likely benign | 16 | 84745223 | 84745223 | Human | | name |
| 405814598 | CV3341607 | single nucleotide variant | NM_005153.3(USP10):c.899A>G (p.Asn300Ser) | not specified [RCV004484493] | uncertain significance | 16 | 84745380 | 84745380 | Human | | name |
| 405814602 | CV3341609 | single nucleotide variant | NM_005153.3(USP10):c.943A>G (p.Thr315Ala) | not specified [RCV004484495] | likely benign | 16 | 84745424 | 84745424 | Human | | name |
| 405814620 | CV3341619 | single nucleotide variant | NM_182488.4(USP12):c.841C>T (p.Pro281Ser) | not specified [RCV004484505] | uncertain significance | 13 | 27075282 | 27075282 | Human | | name |
| 405814642 | CV3341631 | single nucleotide variant | NM_003940.3(USP13):c.716C>T (p.Ser239Phe) | not specified [RCV004484517] | uncertain significance | 3 | 179708868 | 179708868 | Human | | name |
| 405814643 | CV3341632 | single nucleotide variant | NM_003940.3(USP13):c.721G>T (p.Gly241Cys) | not specified [RCV004484518] | uncertain significance | 3 | 179708873 | 179708873 | Human | | name |
| 405814645 | CV3341633 | single nucleotide variant | NM_003940.3(USP13):c.884T>C (p.Met295Thr) | not specified [RCV004484519] | uncertain significance | 3 | 179720018 | 179720018 | Human | | name |
| 405814652 | CV3341637 | single nucleotide variant | NM_005151.4(USP14):c.677C>G (p.Thr226Arg) | not specified [RCV004484523] | uncertain significance | 18 | 198048 | 198048 | Human | | name |
| 405814654 | CV3341638 | single nucleotide variant | NM_005151.4(USP14):c.704C>A (p.Thr235Lys) | not specified [RCV004484524] | uncertain significance | 18 | 198075 | 198075 | Human | | name |
| 405814675 | CV3341650 | single nucleotide variant | NM_006447.3(USP16):c.442A>C (p.Lys148Gln) | not specified [RCV004484536] | uncertain significance | 21 | 29036368 | 29036368 | Human | | name |
| 405814677 | CV3341651 | single nucleotide variant | NM_006447.3(USP16):c.659T>C (p.Leu220Pro) | not specified [RCV004484537] | uncertain significance | 21 | 29038357 | 29038357 | Human | | name |
| 405814679 | CV3341652 | single nucleotide variant | NM_006447.3(USP16):c.713C>T (p.Pro238Leu) | not specified [RCV004484538] | uncertain significance | 21 | 29038411 | 29038411 | Human | | name |
| 405814724 | CV3341653 | single nucleotide variant | NM_006447.3(USP16):c.890A>G (p.Gln297Arg) | not specified [RCV004484539] | uncertain significance | 21 | 29039507 | 29039507 | Human | | name |
| 405814786 | CV3341686 | single nucleotide variant | NM_017414.4(USP18):c.535G>A (p.Val179Ile) | Inborn genetic diseases [RCV004484572] | uncertain significance | 22 | 18167944 | 18167944 | Human | 1 | name |
| 405814788 | CV3341687 | single nucleotide variant | NM_017414.4(USP18):c.553A>T (p.Ser185Cys) | Inborn genetic diseases [RCV004484573] | uncertain significance | 22 | 18167962 | 18167962 | Human | 1 | name |
| 405814790 | CV3341688 | single nucleotide variant | NM_017414.4(USP18):c.554G>A (p.Ser185Asn) | Inborn genetic diseases [RCV004484574] | uncertain significance | 22 | 18167963 | 18167963 | Human | 1 | name |
| 405814792 | CV3341689 | single nucleotide variant | NM_017414.4(USP18):c.820T>A (p.Tyr274Asn) | Inborn genetic diseases [RCV004484575] | uncertain significance | 22 | 18170849 | 18170849 | Human | 1 | name |
| 405814793 | CV3341690 | single nucleotide variant | NM_017414.4(USP18):c.971G>A (p.Arg324Gln) | Inborn genetic diseases [RCV004484576] | uncertain significance | 22 | 18173229 | 18173229 | Human | 1 | name |
| 407455131 | CV3487399 | single nucleotide variant | NM_005153.3(USP10):c.959C>T (p.Ala320Val) | not specified [RCV004685416] | uncertain significance | 16 | 84745440 | 84745440 | Human | | name |
| 407455135 | CV3487401 | single nucleotide variant | NM_005153.3(USP10):c.521A>C (p.Glu174Ala) | not specified [RCV004685418] | uncertain significance | 16 | 84745002 | 84745002 | Human | | name |
| 407462603 | CV3487419 | single nucleotide variant | NM_005151.4(USP14):c.521T>C (p.Ile174Thr) | not specified [RCV004688017] | uncertain significance | 18 | 196694 | 196694 | Human | | name |
| 407455244 | CV3487421 | single nucleotide variant | NM_005151.4(USP14):c.791A>T (p.Glu264Val) | not specified [RCV004685433] | uncertain significance | 18 | 199231 | 199231 | Human | | name |
| 407455223 | CV3487436 | single nucleotide variant | NM_017414.4(USP18):c.535G>C (p.Val179Leu) | Inborn genetic diseases [RCV004685448] | likely benign | 22 | 18167944 | 18167944 | Human | 1 | name |
| 407455221 | CV3487437 | single nucleotide variant | NM_017414.4(USP18):c.970C>T (p.Arg324Trp) | Inborn genetic diseases [RCV004685449] | uncertain significance | 22 | 18173228 | 18173228 | Human | 1 | name |
| 407455153 | CV3487438 | single nucleotide variant | NM_017414.4(USP18):c.473T>C (p.Val158Ala) | Inborn genetic diseases [RCV004685450] | uncertain significance | 22 | 18167327 | 18167327 | Human | 1 | name |
| 407455147 | CV3487440 | single nucleotide variant | NM_017414.4(USP18):c.740A>G (p.His247Arg) | Inborn genetic diseases [RCV004685452] | uncertain significance | 22 | 18170769 | 18170769 | Human | 1 | name |
| 597722234 | CV3626066 | single nucleotide variant | NM_005153.3(USP10):c.730G>T (p.Gly244Trp) | not specified [RCV004888005] | uncertain significance | 16 | 84745211 | 84745211 | Human | | name |
| 597722248 | CV3626069 | single nucleotide variant | NM_005153.3(USP10):c.734G>T (p.Gly245Val) | not specified [RCV004888006] | uncertain significance | 16 | 84745215 | 84745215 | Human | | name |
| 597791430 | CV3626070 | single nucleotide variant | NM_005153.3(USP10):c.517A>G (p.Thr173Ala) | not specified [RCV004876658] | uncertain significance | 16 | 84744998 | 84744998 | Human | | name |
| 597791436 | CV3626073 | single nucleotide variant | NM_005153.3(USP10):c.920C>T (p.Thr307Met) | not specified [RCV004876660] | uncertain significance | 16 | 84745401 | 84745401 | Human | | name |
| 597722273 | CV3626078 | single nucleotide variant | NM_005153.3(USP10):c.394G>T (p.Ala132Ser) | not specified [RCV004888008] | uncertain significance | 16 | 84744875 | 84744875 | Human | | name |
| 597791445 | CV3626079 | single nucleotide variant | NM_005153.3(USP10):c.364C>T (p.Leu122Phe) | not specified [RCV004876663] | uncertain significance | 16 | 84744845 | 84744845 | Human | | name |
| 597798360 | CV3626095 | single nucleotide variant | NM_182488.4(USP12):c.871G>C (p.Gly291Arg) | not specified [RCV004879152] | uncertain significance | 13 | 27075252 | 27075252 | Human | | name |
| 597798364 | CV3626096 | single nucleotide variant | NM_182488.4(USP12):c.755C>G (p.Pro252Arg) | not specified [RCV004879153] | uncertain significance | 13 | 27075368 | 27075368 | Human | | name |
| 597722372 | CV3626097 | single nucleotide variant | NM_003940.3(USP13):c.484A>G (p.Ile162Val) | not specified [RCV004888015] | uncertain significance | 3 | 179706940 | 179706940 | Human | | name |
| 597798370 | CV3626100 | single nucleotide variant | NM_003940.3(USP13):c.581A>G (p.Asn194Ser) | not specified [RCV004879155] | uncertain significance | 3 | 179707037 | 179707037 | Human | | name |
| 597722422 | CV3626105 | single nucleotide variant | NM_003940.3(USP13):c.988A>G (p.Met330Val) | not specified [RCV004888019] | uncertain significance | 3 | 179721489 | 179721489 | Human | | name |
| 597798380 | CV3626109 | single nucleotide variant | NM_005151.4(USP14):c.464C>G (p.Ala155Gly) | not specified [RCV004879159] | uncertain significance | 18 | 196637 | 196637 | Human | | name |
| 597798398 | CV3626123 | single nucleotide variant | NM_006447.3(USP16):c.436A>G (p.Thr146Ala) | not specified [RCV004879165] | uncertain significance | 21 | 29036362 | 29036362 | Human | | name |
| 597798404 | CV3626125 | single nucleotide variant | NM_006447.3(USP16):c.833C>T (p.Pro278Leu) | not specified [RCV004879167] | uncertain significance | 21 | 29039126 | 29039126 | Human | | name |
| 597798409 | CV3626127 | single nucleotide variant | NM_006447.3(USP16):c.884A>G (p.Tyr295Cys) | not specified [RCV004879169] | uncertain significance | 21 | 29039501 | 29039501 | Human | | name |
| 597642529 | CV3626158 | single nucleotide variant | NM_017414.4(USP18):c.931G>A (p.Val311Met) | Inborn genetic diseases [RCV004971976] | uncertain significance | 22 | 18173189 | 18173189 | Human | 1 | name |
| 597642886 | CV3626160 | single nucleotide variant | NM_017414.4(USP18):c.713G>T (p.Arg238Leu) | Inborn genetic diseases [RCV004971978] | uncertain significance | 22 | 18169929 | 18169929 | Human | 1 | name |
| 597642880 | CV3626161 | single nucleotide variant | NM_017414.4(USP18):c.848A>G (p.Gln283Arg) | Inborn genetic diseases [RCV004971979] | uncertain significance | 22 | 18170877 | 18170877 | Human | 1 | name |
| 597642875 | CV3626162 | single nucleotide variant | NM_017414.4(USP18):c.953A>G (p.His318Arg) | Inborn genetic diseases [RCV004971980] | uncertain significance | 22 | 18173211 | 18173211 | Human | 1 | name |
| 597642871 | CV3626163 | single nucleotide variant | NM_017414.4(USP18):c.829C>A (p.Gln277Lys) | Inborn genetic diseases [RCV004971981] | uncertain significance | 22 | 18170858 | 18170858 | Human | 1 | name |
| 597642868 | CV3626164 | single nucleotide variant | NM_017414.4(USP18):c.785G>A (p.Arg262Lys) | Inborn genetic diseases [RCV004971982] | uncertain significance | 22 | 18170814 | 18170814 | Human | 1 | name |
| 598123057 | CV3890181 | single nucleotide variant | NM_017414.4(USP18):c.930C>G (p.His310Gln) | not provided [RCV005250700] | uncertain significance | 22 | 18173188 | 18173188 | Human | | name |
| 598203442 | CV3936430 | single nucleotide variant | NM_005153.3(USP10):c.509G>A (p.Ser170Asn) | not specified [RCV005290535] | uncertain significance | 16 | 84744990 | 84744990 | Human | | name |
| 598203448 | CV3936431 | single nucleotide variant | NM_005153.3(USP10):c.901G>T (p.Gly301Trp) | not specified [RCV005290536] | uncertain significance | 16 | 84745382 | 84745382 | Human | | name |
| 598275119 | CV3936432 | single nucleotide variant | NM_005153.3(USP10):c.416G>T (p.Gly139Val) | not specified [RCV005304268] | uncertain significance | 16 | 84744897 | 84744897 | Human | | name |
| 598203494 | CV3936443 | single nucleotide variant | NM_003940.3(USP13):c.650G>A (p.Arg217Gln) | not specified [RCV005290543] | uncertain significance | 3 | 179708802 | 179708802 | Human | | name |
| 598203500 | CV3936444 | single nucleotide variant | NM_003940.3(USP13):c.787A>G (p.Ile263Val) | not specified [RCV005290544] | uncertain significance | 3 | 179708939 | 179708939 | Human | | name |
| 598203526 | CV3936450 | single nucleotide variant | NM_003940.3(USP13):c.719G>A (p.Gly240Glu) | not specified [RCV005290548] | uncertain significance | 3 | 179708871 | 179708871 | Human | | name |
| 598275134 | CV3936453 | single nucleotide variant | NM_005151.4(USP14):c.902A>T (p.Gln301Leu) | not specified [RCV005304276] | uncertain significance | 18 | 202905 | 202905 | Human | | name |
| 598275140 | CV3936456 | single nucleotide variant | NM_005151.4(USP14):c.452A>G (p.Tyr151Cys) | not specified [RCV005304279] | uncertain significance | 18 | 192889 | 192889 | Human | | name |
| 598203538 | CV3936457 | single nucleotide variant | NM_005151.4(USP14):c.989G>A (p.Arg330Gln) | not specified [RCV005290550] | uncertain significance | 18 | 203144 | 203144 | Human | | name |
| 598275148 | CV3936464 | single nucleotide variant | NM_006447.3(USP16):c.964G>C (p.Gly322Arg) | not specified [RCV005304283] | uncertain significance | 21 | 29040621 | 29040621 | Human | | name |
| 598275153 | CV3936470 | single nucleotide variant | NM_006447.3(USP16):c.439C>T (p.Pro147Ser) | not specified [RCV005304287] | uncertain significance | 21 | 29036365 | 29036365 | Human | | name |
| 598275163 | CV3936486 | single nucleotide variant | NM_017414.4(USP18):c.556A>G (p.Ser186Gly) | Inborn genetic diseases [RCV005304297] | uncertain significance | 22 | 18167965 | 18167965 | Human | 1 | name |
| 598275164 | CV3936487 | single nucleotide variant | NM_017414.4(USP18):c.634G>T (p.Ala212Ser) | Inborn genetic diseases [RCV005304298] | uncertain significance | 22 | 18169850 | 18169850 | Human | 1 | name |
| 598203612 | CV3936488 | single nucleotide variant | NM_017414.4(USP18):c.799A>G (p.Arg267Gly) | Inborn genetic diseases [RCV005290562] | uncertain significance | 22 | 18170828 | 18170828 | Human | 1 | name |
| 598203623 | CV3936490 | single nucleotide variant | NM_017414.4(USP18):c.548T>G (p.Met183Arg) | Inborn genetic diseases [RCV005290564] | uncertain significance | 22 | 18167957 | 18167957 | Human | 1 | name |
| 15158567 | CV700384 | single nucleotide variant | NM_201402.3(USP17L2):c.786G>A (p.Pro262=) | not provided [RCV000947097] | likely benign | 8 | 12137975 | 12137975 | Human | | name |
| 15114728 | CV717292 | single nucleotide variant | NM_017414.4(USP18):c.967A>G (p.Ile323Val) | not provided [RCV000961727] | benign | 22 | 18173225 | 18173225 | Human | | name |
| 15123293 | CV717293 | single nucleotide variant | NM_017414.4(USP18):c.974A>G (p.Asn325Ser) | not provided [RCV000963213] | benign | 22 | 18173232 | 18173232 | Human | | name |
| 15099204 | CV717795 | single nucleotide variant | NM_001371072.1(USP11):c.282T>C (p.Phe94=) | not provided [RCV000970390] | benign | X | 47239175 | 47239175 | Human | | name |
| 156234845 | CV2193338 | single nucleotide variant | NM_005153.3(USP10):c.1072G>C (p.Ala358Pro) | not specified [RCV004072843] | uncertain significance | 16 | 84745553 | 84745553 | Human | | name |
| 156266236 | CV2198727 | single nucleotide variant | NM_003940.3(USP13):c.1279C>T (p.Arg427Cys) | not specified [RCV004075734] | uncertain significance | 3 | 179740271 | 179740271 | Human | | name |
| 156165758 | CV2200846 | single nucleotide variant | NM_005153.3(USP10):c.2188C>G (p.Arg730Gly) | not specified [RCV004081475] | uncertain significance | 16 | 84775204 | 84775204 | Human | | name |
| 156372841 | CV2204606 | single nucleotide variant | NM_003940.3(USP13):c.1885A>G (p.Ile629Val) | not specified [RCV004081714] | uncertain significance | 3 | 179754818 | 179754818 | Human | | name |
| 156259251 | CV2204721 | single nucleotide variant | NM_006447.3(USP16):c.1594A>C (p.Thr532Pro) | not specified [RCV004074984] | uncertain significance | 21 | 29046904 | 29046904 | Human | | name |
| 156331550 | CV2220541 | single nucleotide variant | NM_005153.3(USP10):c.1400G>A (p.Arg467Gln) | not specified [RCV004097749] | uncertain significance | 16 | 84759896 | 84759896 | Human | | name |
| 155940348 | CV2222101 | single nucleotide variant | NM_006447.3(USP16):c.1573G>A (p.Val525Ile) | not specified [RCV004104863] | uncertain significance | 21 | 29046883 | 29046883 | Human | | name |
| 156084249 | CV2244531 | single nucleotide variant | NM_006447.3(USP16):c.2224T>C (p.Tyr742His) | not specified [RCV004100482] | uncertain significance | 21 | 29053832 | 29053832 | Human | | name |
| 156139846 | CV2246941 | single nucleotide variant | NM_006447.3(USP16):c.1792A>G (p.Ser598Gly) | not specified [RCV004112735] | uncertain significance | 21 | 29047102 | 29047102 | Human | | name |
| 155978732 | CV2247112 | single nucleotide variant | NM_006447.3(USP16):c.1590A>C (p.Lys530Asn) | not specified [RCV004114647] | uncertain significance | 21 | 29046900 | 29046900 | Human | | name |
| 156266693 | CV2247232 | single nucleotide variant | NM_005153.3(USP10):c.1477A>G (p.Ile493Val) | not specified [RCV004114746] | uncertain significance | 16 | 84760198 | 84760198 | Human | | name |
| 156206064 | CV2249926 | single nucleotide variant | NM_003940.3(USP13):c.2159G>A (p.Gly720Asp) | not specified [RCV004122898] | uncertain significance | 3 | 179764068 | 179764068 | Human | | name |
| 156316779 | CV2250958 | single nucleotide variant | NM_003940.3(USP13):c.1234G>A (p.Val412Met) | not specified [RCV004123533] | uncertain significance | 3 | 179730689 | 179730689 | Human | | name |
| 156180598 | CV2258455 | single nucleotide variant | NM_005153.3(USP10):c.1895A>C (p.Gln632Pro) | not specified [RCV004115647] | uncertain significance | 16 | 84768255 | 84768255 | Human | | name |
| 156211529 | CV2259885 | single nucleotide variant | NM_005153.3(USP10):c.2234C>T (p.Ala745Val) | not specified [RCV004118922] | uncertain significance | 16 | 84778919 | 84778919 | Human | | name |
| 156110507 | CV2261623 | single nucleotide variant | NM_005153.3(USP10):c.2062C>G (p.Arg688Gly) | not specified [RCV004125949] | uncertain significance | 16 | 84772604 | 84772604 | Human | | name |
| 155969325 | CV2262101 | single nucleotide variant | NM_005153.3(USP10):c.1016C>G (p.Pro339Arg) | not specified [RCV004126565] | uncertain significance | 16 | 84745497 | 84745497 | Human | | name |
| 156256126 | CV2264779 | single nucleotide variant | NM_006447.3(USP16):c.2348A>G (p.Gln783Arg) | not specified [RCV004132754] | uncertain significance | 21 | 29053956 | 29053956 | Human | | name |
| 156238103 | CV2265343 | single nucleotide variant | NM_005153.3(USP10):c.1851G>T (p.Gln617His) | not specified [RCV004128233] | uncertain significance | 16 | 84768211 | 84768211 | Human | | name |
| 156240017 | CV2265414 | single nucleotide variant | NM_006447.3(USP16):c.1913A>G (p.Tyr638Cys) | not specified [RCV004130446] | uncertain significance | 21 | 29047223 | 29047223 | Human | | name |
| 156036640 | CV2283081 | single nucleotide variant | NM_005153.3(USP10):c.1252A>C (p.Ile418Leu) | not specified [RCV004143693] | uncertain significance | 16 | 84758775 | 84758775 | Human | | name |
| 155962174 | CV2285623 | single nucleotide variant | NM_006447.3(USP16):c.1184G>A (p.Gly395Asp) | not specified [RCV004141489] | uncertain significance | 21 | 29043427 | 29043427 | Human | | name |
| 156297466 | CV2297682 | single nucleotide variant | NM_003940.3(USP13):c.1829A>G (p.Asp610Gly) | not specified [RCV004155365] | uncertain significance | 3 | 179754762 | 179754762 | Human | | name |
| 156265389 | CV2299162 | single nucleotide variant | NM_005153.3(USP10):c.1555G>C (p.Gly519Arg) | not specified [RCV004152505] | uncertain significance | 16 | 84762989 | 84762989 | Human | | name |
| 156064730 | CV2317715 | single nucleotide variant | NM_006447.3(USP16):c.2047C>A (p.Gln683Lys) | not specified [RCV004174980] | uncertain significance | 21 | 29048796 | 29048796 | Human | | name |
| 156164228 | CV2319692 | single nucleotide variant | NM_006447.3(USP16):c.1790A>G (p.Asp597Gly) | not specified [RCV004187231] | uncertain significance | 21 | 29047100 | 29047100 | Human | | name |
| 156308149 | CV2332252 | single nucleotide variant | NM_005153.3(USP10):c.1156C>A (p.Pro386Thr) | not specified [RCV004182425] | uncertain significance | 16 | 84745637 | 84745637 | Human | | name |
| 156173539 | CV2333726 | single nucleotide variant | NM_003940.3(USP13):c.1597G>C (p.Glu533Gln) | not specified [RCV004181239] | uncertain significance | 3 | 179745105 | 179745105 | Human | | name |
| 155977276 | CV2338734 | single nucleotide variant | NM_006447.3(USP16):c.1700A>G (p.Asn567Ser) | not specified [RCV004182305] | uncertain significance | 21 | 29047010 | 29047010 | Human | | name |
| 155921000 | CV2340376 | single nucleotide variant | NM_003940.3(USP13):c.2047G>A (p.Ala683Thr) | not specified [RCV004197107] | uncertain significance | 3 | 179761210 | 179761210 | Human | | name |
| 156085812 | CV2340496 | single nucleotide variant | NM_005153.3(USP10):c.1529T>C (p.Val510Ala) | not specified [RCV004197219] | uncertain significance | 16 | 84760250 | 84760250 | Human | | name |
| 156078361 | CV2341182 | single nucleotide variant | NM_003940.3(USP13):c.1497G>A (p.Met499Ile) | not specified [RCV004186603] | uncertain significance | 3 | 179742313 | 179742313 | Human | | name |
| 155974422 | CV2341432 | single nucleotide variant | NM_001199161.2(USP19):c.59C>T (p.Thr20Ile) | not specified [RCV004188829] | uncertain significance | 3 | 49119087 | 49119087 | Human | | name |
| 155901923 | CV2345891 | single nucleotide variant | NM_003940.3(USP13):c.1891C>A (p.Pro631Thr) | not specified [RCV004198932] | uncertain significance | 3 | 179754824 | 179754824 | Human | | name |
| 156382650 | CV2362781 | single nucleotide variant | NM_006447.3(USP16):c.1493T>C (p.Ile498Thr) | not specified [RCV004208898] | uncertain significance | 21 | 29046803 | 29046803 | Human | | name |
| 156340323 | CV2363219 | single nucleotide variant | NM_005153.3(USP10):c.2365C>A (p.Leu789Ile) | not specified [RCV004213784] | uncertain significance | 16 | 84779050 | 84779050 | Human | | name |
| 156339409 | CV2367540 | single nucleotide variant | NM_005153.3(USP10):c.1480C>T (p.Arg494Cys) | not specified [RCV004211473] | uncertain significance | 16 | 84760201 | 84760201 | Human | | name |
| 156178542 | CV2374603 | single nucleotide variant | NM_006447.3(USP16):c.1750G>C (p.Ala584Pro) | not specified [RCV004225227] | uncertain significance | 21 | 29047060 | 29047060 | Human | | name |
| 156186957 | CV2378027 | single nucleotide variant | NM_003940.3(USP13):c.1875A>C (p.Glu625Asp) | not specified [RCV004232590] | uncertain significance | 3 | 179754808 | 179754808 | Human | | name |
| 156059148 | CV2383497 | single nucleotide variant | NM_003940.3(USP13):c.1844G>A (p.Arg615Gln) | not specified [RCV004222506] | uncertain significance | 3 | 179754777 | 179754777 | Human | | name |
| 156091910 | CV2384805 | single nucleotide variant | NM_006447.3(USP16):c.2267C>T (p.Ser756Leu) | not specified [RCV004232566] | uncertain significance | 21 | 29053875 | 29053875 | Human | | name |
| 156146133 | CV2397393 | single nucleotide variant | NM_003940.3(USP13):c.1459C>T (p.Arg487Trp) | not specified [RCV004238914] | uncertain significance | 3 | 179742275 | 179742275 | Human | | name |
| 329370010 | CV2424922 | single nucleotide variant | NM_006447.3(USP16):c.1249G>A (p.Glu417Lys) | not specified [RCV004248798] | uncertain significance | 21 | 29043492 | 29043492 | Human | | name |
| 329375217 | CV2431420 | single nucleotide variant | NM_006447.3(USP16):c.1552C>A (p.Gln518Lys) | not specified [RCV004254585] | uncertain significance | 21 | 29046862 | 29046862 | Human | | name |
| 329381579 | CV2441397 | single nucleotide variant | NM_006447.3(USP16):c.2342T>C (p.Ile781Thr) | not specified [RCV004257200] | uncertain significance | 21 | 29053950 | 29053950 | Human | | name |
| 329387830 | CV2446828 | single nucleotide variant | NM_006447.3(USP16):c.1924C>T (p.Arg642Cys) | not specified [RCV004257683] | uncertain significance | 21 | 29047234 | 29047234 | Human | | name |
| 329391408 | CV2448525 | single nucleotide variant | NM_005153.3(USP10):c.1646G>C (p.Ser549Thr) | not specified [RCV004259209] | uncertain significance | 16 | 84763080 | 84763080 | Human | | name |
| 329372778 | CV2451652 | single nucleotide variant | NM_006447.3(USP16):c.1649C>A (p.Thr550Lys) | not specified [RCV004274568] | uncertain significance | 21 | 29046959 | 29046959 | Human | | name |
| 329368404 | CV2453261 | single nucleotide variant | NM_003940.3(USP13):c.1547C>T (p.Ala516Val) | not specified [RCV004266902] | uncertain significance | 3 | 179745055 | 179745055 | Human | | name |
| 329390477 | CV2459278 | single nucleotide variant | NM_006447.3(USP16):c.2216G>C (p.Arg739Thr) | not specified [RCV004274709] | uncertain significance | 21 | 29053824 | 29053824 | Human | | name |
| 329392979 | CV2469130 | single nucleotide variant | NM_005153.3(USP10):c.1909T>G (p.Ser637Ala) | not specified [RCV004274357] | uncertain significance | 16 | 84768269 | 84768269 | Human | | name |
| 401766235 | CV2679617 | single nucleotide variant | NM_003940.3(USP13):c.1607G>A (p.Arg536His) | not specified [RCV004282096] | uncertain significance | 3 | 179745115 | 179745115 | Human | | name |
| 401766348 | CV2679655 | single nucleotide variant | NM_003940.3(USP13):c.1559C>G (p.Thr520Arg) | not specified [RCV004282128] | uncertain significance | 3 | 179745067 | 179745067 | Human | | name |
| 401736533 | CV2683045 | single nucleotide variant | NM_003940.3(USP13):c.1732C>G (p.Pro578Ala) | not specified [RCV004283822] | uncertain significance | 3 | 179752307 | 179752307 | Human | | name |
| 401768976 | CV2686453 | single nucleotide variant | NM_003940.3(USP13):c.1331G>A (p.Arg444Lys) | not specified [RCV004290610] | uncertain significance | 3 | 179740323 | 179740323 | Human | | name |
| 401722920 | CV2703544 | single nucleotide variant | NM_006447.3(USP16):c.2362G>C (p.Glu788Gln) | not specified [RCV004317716] | uncertain significance | 21 | 29054077 | 29054077 | Human | | name |
| 401778883 | CV2705834 | single nucleotide variant | NM_006447.3(USP16):c.2014G>A (p.Glu672Lys) | not specified [RCV004320451] | uncertain significance | 21 | 29048763 | 29048763 | Human | | name |
| 401741695 | CV2710061 | single nucleotide variant | NM_003940.3(USP13):c.1750C>A (p.Gln584Lys) | not specified [RCV004315122] | uncertain significance | 3 | 179752325 | 179752325 | Human | | name |
| 401783303 | CV2716263 | single nucleotide variant | NM_005153.3(USP10):c.2192C>G (p.Thr731Ser) | not specified [RCV004323481] | uncertain significance | 16 | 84775208 | 84775208 | Human | | name |
| 401777922 | CV2718388 | single nucleotide variant | NM_005153.3(USP10):c.2005A>G (p.Ile669Val) | not specified [RCV004318215] | uncertain significance | 16 | 84772547 | 84772547 | Human | | name |
| 401753736 | CV2722569 | single nucleotide variant | NM_005151.4(USP14):c.1447C>T (p.Arg483Cys) | not specified [RCV004322943] | uncertain significance | 18 | 211246 | 211246 | Human | | name |
| 401743823 | CV2726173 | single nucleotide variant | NM_006447.3(USP16):c.1057A>T (p.Ser353Cys) | not specified [RCV004326650] | uncertain significance | 21 | 29042039 | 29042039 | Human | | name |
| 401758116 | CV2731696 | single nucleotide variant | NM_005151.4(USP14):c.1463T>A (p.Met488Lys) | not specified [RCV004331799] | uncertain significance | 18 | 211262 | 211262 | Human | | name |
| 401865292 | CV2754203 | single nucleotide variant | NM_005153.3(USP10):c.1211C>T (p.Thr404Ile) | not specified [RCV004334392] | uncertain significance | 16 | 84758734 | 84758734 | Human | | name |
| 401870946 | CV2759367 | single nucleotide variant | NM_006447.3(USP16):c.1626G>A (p.Met542Ile) | not specified [RCV004335948] | uncertain significance | 21 | 29046936 | 29046936 | Human | | name |
| 401883905 | CV2761140 | single nucleotide variant | NM_005153.3(USP10):c.1649A>G (p.Asn550Ser) | not specified [RCV004341029] | uncertain significance | 16 | 84763083 | 84763083 | Human | | name |
| 401857910 | CV2763041 | single nucleotide variant | NM_006447.3(USP16):c.1490A>G (p.His497Arg) | not specified [RCV004336099] | uncertain significance | 21 | 29046800 | 29046800 | Human | | name |
| 401923879 | CV2820852 | single nucleotide variant | NM_001256872.1(USP17L8):c.75A>T (p.Pro25=) | not provided [RCV003435426] | likely benign | 8 | 7973179 | 7973179 | Human | | name |
| 401925673 | CV2820909 | single nucleotide variant | NM_201402.3(USP17L2):c.1087C>T (p.Leu363=) | not provided [RCV003436751] | likely benign | 8 | 12137674 | 12137674 | Human | | name |
| 401925678 | CV2820914 | single nucleotide variant | NM_201402.3(USP17L2):c.148G>A (p.Asp50Asn) | not provided [RCV003436756] | likely benign | 8 | 12138613 | 12138613 | Human | | name |
| 405814686 | CV3341593 | single nucleotide variant | NM_005153.3(USP10):c.1166A>C (p.Glu389Ala) | not specified [RCV004484479] | uncertain significance | 16 | 84745647 | 84745647 | Human | | name |
| 405814684 | CV3341594 | single nucleotide variant | NM_005153.3(USP10):c.1636C>G (p.Leu546Val) | not specified [RCV004484480] | uncertain significance | 16 | 84763070 | 84763070 | Human | | name |
| 405814683 | CV3341595 | single nucleotide variant | NM_005153.3(USP10):c.1657C>T (p.Leu553Phe) | not specified [RCV004484481] | uncertain significance | 16 | 84764088 | 84764088 | Human | | name |
| 405814681 | CV3341596 | single nucleotide variant | NM_005153.3(USP10):c.1694A>G (p.Asn565Ser) | not specified [RCV004484482] | uncertain significance | 16 | 84764125 | 84764125 | Human | | name |
| 405814582 | CV3341598 | single nucleotide variant | NM_005153.3(USP10):c.1828A>G (p.Ile610Val) | not specified [RCV004484484] | uncertain significance | 16 | 84764259 | 84764259 | Human | | name |
| 405814583 | CV3341599 | single nucleotide variant | NM_005153.3(USP10):c.1887C>G (p.Phe629Leu) | not specified [RCV004484485] | uncertain significance | 16 | 84768247 | 84768247 | Human | | name |
| 405814585 | CV3341600 | single nucleotide variant | NM_005153.3(USP10):c.2189G>A (p.Arg730Gln) | not specified [RCV004484486] | uncertain significance | 16 | 84775205 | 84775205 | Human | | name |
| 405814589 | CV3341602 | single nucleotide variant | NM_005153.3(USP10):c.2198G>A (p.Arg733Gln) | not specified [RCV004484488] | uncertain significance | 16 | 84775214 | 84775214 | Human | | name |
| 405814590 | CV3341603 | single nucleotide variant | NM_005153.3(USP10):c.2377C>T (p.Arg793Cys) | not specified [RCV004484489] | uncertain significance | 16 | 84779062 | 84779062 | Human | | name |
| 405814615 | CV3341616 | single nucleotide variant | NM_182488.4(USP12):c.1038A>C (p.Glu346Asp) | not specified [RCV004484502] | uncertain significance | 13 | 27069358 | 27069358 | Human | | name |
| 405814723 | CV3341620 | single nucleotide variant | NM_003940.3(USP13):c.1052T>C (p.Met351Thr) | not specified [RCV004484506] | uncertain significance | 3 | 179721553 | 179721553 | Human | | name |
| 405814624 | CV3341621 | single nucleotide variant | NM_003940.3(USP13):c.1313C>T (p.Pro438Leu) | not specified [RCV004484507] | uncertain significance | 3 | 179740305 | 179740305 | Human | | name |
| 405814626 | CV3341622 | single nucleotide variant | NM_003940.3(USP13):c.1468C>T (p.Arg490Cys) | not specified [RCV004484508] | uncertain significance | 3 | 179742284 | 179742284 | Human | | name |
| 405814627 | CV3341623 | single nucleotide variant | NM_003940.3(USP13):c.1487A>G (p.Asp496Gly) | not specified [RCV004484509] | uncertain significance | 3 | 179742303 | 179742303 | Human | | name |
| 405814631 | CV3341625 | single nucleotide variant | NM_003940.3(USP13):c.1967C>T (p.Ser656Leu) | not specified [RCV004484511] | uncertain significance | 3 | 179761130 | 179761130 | Human | | name |
| 405814633 | CV3341626 | single nucleotide variant | NM_003940.3(USP13):c.2080A>G (p.Met694Val) | not specified [RCV004484512] | uncertain significance | 3 | 179761243 | 179761243 | Human | | name |
| 405814634 | CV3341627 | single nucleotide variant | NM_003940.3(USP13):c.2131G>C (p.Ala711Pro) | not specified [RCV004484513] | uncertain significance | 3 | 179764040 | 179764040 | Human | | name |
| 405814636 | CV3341628 | single nucleotide variant | NM_003940.3(USP13):c.2197G>A (p.Val733Ile) | not specified [RCV004484514] | uncertain significance | 3 | 179764106 | 179764106 | Human | | name |
| 405814649 | CV3341635 | single nucleotide variant | NM_005151.4(USP14):c.1055T>C (p.Met352Thr) | not specified [RCV004484521] | uncertain significance | 18 | 204583 | 204583 | Human | | name |
| 405814650 | CV3341636 | single nucleotide variant | NM_005151.4(USP14):c.1195G>A (p.Val399Ile) | not specified [RCV004484522] | uncertain significance | 18 | 210001 | 210001 | Human | | name |
| 405814666 | CV3341645 | single nucleotide variant | NM_006447.3(USP16):c.1069C>T (p.Arg357Cys) | not specified [RCV004484531] | uncertain significance | 21 | 29042051 | 29042051 | Human | | name |
| 405814668 | CV3341646 | single nucleotide variant | NM_006447.3(USP16):c.1195G>T (p.Val399Leu) | not specified [RCV004484532] | uncertain significance | 21 | 29043438 | 29043438 | Human | | name |
| 405814670 | CV3341647 | single nucleotide variant | NM_006447.3(USP16):c.1721A>G (p.Asn574Ser) | not specified [RCV004484533] | likely benign | 21 | 29047031 | 29047031 | Human | | name |
| 405814739 | CV3341661 | variation | NM_001242330.1(USP17L27):c.134= (p.Cys45=) | not specified [RCV004484547] | uncertain significance | 4 | 9344281 | 9344281 | Human | | name |
| 405663256 | CV3341710 | single nucleotide variant | NM_001199161.2(USP19):c.69G>C (p.Lys23Asn) | not specified [RCV004484596] | uncertain significance | 3 | 49119077 | 49119077 | Human | | name |
| 407455127 | CV3487397 | single nucleotide variant | NM_005153.3(USP10):c.2353C>T (p.Arg785Cys) | not specified [RCV004685414] | uncertain significance | 16 | 84779038 | 84779038 | Human | | name |
| 407455129 | CV3487398 | single nucleotide variant | NM_005153.3(USP10):c.1541G>A (p.Ser514Asn) | not specified [RCV004685415] | uncertain significance | 16 | 84760262 | 84760262 | Human | | name |
| 407455133 | CV3487400 | single nucleotide variant | NM_005153.3(USP10):c.1660A>G (p.Thr554Ala) | not specified [RCV004685417] | uncertain significance | 16 | 84764091 | 84764091 | Human | | name |
| 407455141 | CV3487407 | single nucleotide variant | NM_003940.3(USP13):c.2383G>A (p.Glu795Lys) | not specified [RCV004685421] | uncertain significance | 3 | 179765818 | 179765818 | Human | | name |
| 407462601 | CV3487409 | single nucleotide variant | NM_003940.3(USP13):c.2325T>A (p.Asp775Glu) | not specified [RCV004688016] | uncertain significance | 3 | 179765760 | 179765760 | Human | | name |
| 407455264 | CV3487410 | single nucleotide variant | NM_003940.3(USP13):c.2300A>G (p.His767Arg) | not specified [RCV004685423] | uncertain significance | 3 | 179765735 | 179765735 | Human | | name |
| 407455262 | CV3487411 | single nucleotide variant | NM_003940.3(USP13):c.1007C>T (p.Thr336Met) | not specified [RCV004685424] | uncertain significance | 3 | 179721508 | 179721508 | Human | | name |
| 407455260 | CV3487412 | single nucleotide variant | NM_003940.3(USP13):c.1232A>C (p.Gln411Pro) | not specified [RCV004685425] | uncertain significance | 3 | 179730687 | 179730687 | Human | | name |
| 407455258 | CV3487413 | single nucleotide variant | NM_003940.3(USP13):c.1454A>G (p.Gln485Arg) | not specified [RCV004685426] | uncertain significance | 3 | 179742270 | 179742270 | Human | | name |
| 407455256 | CV3487414 | single nucleotide variant | NM_003940.3(USP13):c.2105C>T (p.Pro702Leu) | not specified [RCV004685427] | uncertain significance | 3 | 179764014 | 179764014 | Human | | name |
| 407455254 | CV3487415 | single nucleotide variant | NM_003940.3(USP13):c.2390C>G (p.Pro797Arg) | not specified [RCV004685428] | uncertain significance | 3 | 179765825 | 179765825 | Human | | name |
| 407455250 | CV3487417 | single nucleotide variant | NM_003940.3(USP13):c.1460G>A (p.Arg487Gln) | not specified [RCV004685430] | uncertain significance | 3 | 179742276 | 179742276 | Human | | name |
| 407455248 | CV3487418 | single nucleotide variant | NM_005151.4(USP14):c.1229T>C (p.Ile410Thr) | not specified [RCV004685431] | uncertain significance | 18 | 210389 | 210389 | Human | | name |
| 407455246 | CV3487420 | single nucleotide variant | NM_005151.4(USP14):c.1084G>C (p.Glu362Gln) | not specified [RCV004685432] | uncertain significance | 18 | 204612 | 204612 | Human | | name |
| 407455234 | CV3487426 | single nucleotide variant | NM_006447.3(USP16):c.1651T>G (p.Ser551Ala) | not specified [RCV004685438] | uncertain significance | 21 | 29046961 | 29046961 | Human | | name |
| 407455230 | CV3487428 | single nucleotide variant | NM_006447.3(USP16):c.1011A>T (p.Glu337Asp) | not specified [RCV004685440] | uncertain significance | 21 | 29040668 | 29040668 | Human | | name |
| 407455228 | CV3487429 | single nucleotide variant | NM_006447.3(USP16):c.2411T>A (p.Val804Glu) | not specified [RCV004685441] | uncertain significance | 21 | 29054126 | 29054126 | Human | | name |
| 597791421 | CV3626064 | single nucleotide variant | NM_005153.3(USP10):c.1661C>G (p.Thr554Arg) | not specified [RCV004876655] | uncertain significance | 16 | 84764092 | 84764092 | Human | | name |
| 597791424 | CV3626067 | single nucleotide variant | NM_005153.3(USP10):c.2228A>G (p.Asn743Ser) | not specified [RCV004876656] | likely benign | 16 | 84778913 | 84778913 | Human | | name |
| 597791433 | CV3626071 | single nucleotide variant | NM_005153.3(USP10):c.1067C>T (p.Pro356Leu) | not specified [RCV004876659] | uncertain significance | 16 | 84745548 | 84745548 | Human | | name |
| 597722260 | CV3626072 | single nucleotide variant | NM_005153.3(USP10):c.1994A>G (p.Gln665Arg) | not specified [RCV004888007] | uncertain significance | 16 | 84768354 | 84768354 | Human | | name |
| 597791439 | CV3626074 | single nucleotide variant | NM_005153.3(USP10):c.1778G>A (p.Arg593His) | not specified [RCV004876661] | uncertain significance | 16 | 84764209 | 84764209 | Human | | name |
| 597791442 | CV3626077 | single nucleotide variant | NM_005153.3(USP10):c.1117G>C (p.Val373Leu) | not specified [RCV004876662] | uncertain significance | 16 | 84745598 | 84745598 | Human | | name |
| 597722388 | CV3626101 | single nucleotide variant | NM_003940.3(USP13):c.2146G>T (p.Ala716Ser) | not specified [RCV004888016] | uncertain significance | 3 | 179764055 | 179764055 | Human | | name |
| 597722403 | CV3626102 | single nucleotide variant | NM_003940.3(USP13):c.2284G>A (p.Asp762Asn) | not specified [RCV004888017] | uncertain significance | 3 | 179765719 | 179765719 | Human | | name |
| 597798373 | CV3626104 | single nucleotide variant | NM_003940.3(USP13):c.1037A>C (p.Tyr346Ser) | not specified [RCV004879156] | uncertain significance | 3 | 179721538 | 179721538 | Human | | name |
| 597798376 | CV3626106 | single nucleotide variant | NM_003940.3(USP13):c.1110A>C (p.Arg370Ser) | not specified [RCV004879157] | uncertain significance | 3 | 179730210 | 179730210 | Human | | name |
| 597722496 | CV3626121 | single nucleotide variant | NM_006447.3(USP16):c.1552C>G (p.Gln518Glu) | not specified [RCV004888025] | uncertain significance | 21 | 29046862 | 29046862 | Human | | name |
| 597722507 | CV3626122 | single nucleotide variant | NM_006447.3(USP16):c.1973C>T (p.Thr658Ile) | not specified [RCV004888026] | uncertain significance | 21 | 29047283 | 29047283 | Human | | name |
| 597798401 | CV3626124 | single nucleotide variant | NM_006447.3(USP16):c.2434T>G (p.Ser812Ala) | not specified [RCV004879166] | uncertain significance | 21 | 29054149 | 29054149 | Human | | name |
| 597798411 | CV3626129 | single nucleotide variant | NM_006447.3(USP16):c.2139C>G (p.His713Gln) | not specified [RCV004879170] | uncertain significance | 21 | 29050124 | 29050124 | Human | | name |
| 597722521 | CV3626130 | single nucleotide variant | NM_006447.3(USP16):c.1079G>A (p.Gly360Asp) | not specified [RCV004888027] | uncertain significance | 21 | 29042061 | 29042061 | Human | | name |
| 597722532 | CV3626131 | single nucleotide variant | NM_006447.3(USP16):c.1364G>T (p.Arg455Leu) | not specified [RCV004888028] | uncertain significance | 21 | 29046674 | 29046674 | Human | | name |
| 597722545 | CV3626132 | single nucleotide variant | NM_006447.3(USP16):c.2422A>G (p.Lys808Glu) | not specified [RCV004888029] | uncertain significance | 21 | 29054137 | 29054137 | Human | | name |
| 597722559 | CV3626133 | single nucleotide variant | NM_006447.3(USP16):c.2116A>C (p.Asn706His) | not specified [RCV004888030] | uncertain significance | 21 | 29050101 | 29050101 | Human | | name |
| 597798441 | CV3626186 | single nucleotide variant | NM_001199161.2(USP19):c.89C>G (p.Ala30Gly) | not specified [RCV004879197] | uncertain significance | 3 | 49119057 | 49119057 | Human | | name |
| 598275113 | CV3936427 | single nucleotide variant | NM_005153.3(USP10):c.1642C>G (p.Pro548Ala) | not specified [RCV005304265] | uncertain significance | 16 | 84763076 | 84763076 | Human | | name |
| 598275115 | CV3936428 | single nucleotide variant | NM_005153.3(USP10):c.2291G>A (p.Arg764His) | not specified [RCV005304266] | uncertain significance | 16 | 84778976 | 84778976 | Human | | name |
| 598275117 | CV3936429 | single nucleotide variant | NM_005153.3(USP10):c.1310C>T (p.Pro437Leu) | not specified [RCV005304267] | uncertain significance | 16 | 84759388 | 84759388 | Human | | name |
| 598203454 | CV3936433 | single nucleotide variant | NM_005153.3(USP10):c.2381G>A (p.Arg794Gln) | not specified [RCV005290537] | uncertain significance | 16 | 84779066 | 84779066 | Human | | name |
| 598203475 | CV3936439 | single nucleotide variant | NM_182488.4(USP12):c.1019A>G (p.Asp340Gly) | not specified [RCV005290540] | uncertain significance | 13 | 27069377 | 27069377 | Human | | name |
| 598275126 | CV3936441 | single nucleotide variant | NM_003940.3(USP13):c.1280G>A (p.Arg427His) | not specified [RCV005304272] | uncertain significance | 3 | 179740272 | 179740272 | Human | | name |
| 598203488 | CV3936442 | single nucleotide variant | NM_003940.3(USP13):c.1208C>T (p.Pro403Leu) | not specified [RCV005290542] | uncertain significance | 3 | 179730663 | 179730663 | Human | | name |
| 598275128 | CV3936445 | single nucleotide variant | NM_003940.3(USP13):c.1987G>A (p.Glu663Lys) | not specified [RCV005304273] | uncertain significance | 3 | 179761150 | 179761150 | Human | | name |
| 598275130 | CV3936446 | single nucleotide variant | NM_003940.3(USP13):c.1429G>A (p.Val477Met) | not specified [RCV005304274] | uncertain significance | 3 | 179742245 | 179742245 | Human | | name |
| 598203507 | CV3936447 | single nucleotide variant | NM_003940.3(USP13):c.1283T>C (p.Met428Thr) | not specified [RCV005290545] | uncertain significance | 3 | 179740275 | 179740275 | Human | | name |
| 598203514 | CV3936448 | single nucleotide variant | NM_003940.3(USP13):c.1583G>A (p.Arg528Lys) | not specified [RCV005290546] | uncertain significance | 3 | 179745091 | 179745091 | Human | | name |
| 598203520 | CV3936449 | single nucleotide variant | NM_003940.3(USP13):c.1154C>T (p.Thr385Ile) | not specified [RCV005290547] | uncertain significance | 3 | 179730254 | 179730254 | Human | | name |
| 598203532 | CV3936451 | single nucleotide variant | NM_003940.3(USP13):c.1874A>G (p.Glu625Gly) | not specified [RCV005290549] | uncertain significance | 3 | 179754807 | 179754807 | Human | | name |
| 598275138 | CV3936455 | single nucleotide variant | NM_005151.4(USP14):c.1253A>G (p.Tyr418Cys) | not specified [RCV005304278] | uncertain significance | 18 | 210413 | 210413 | Human | | name |
| 598203557 | CV3936461 | single nucleotide variant | NM_006447.3(USP16):c.1510A>G (p.Met504Val) | not specified [RCV005290553] | uncertain significance | 21 | 29046820 | 29046820 | Human | | name |
| 598275146 | CV3936463 | single nucleotide variant | NM_006447.3(USP16):c.1103T>C (p.Met368Thr) | not specified [RCV005304282] | uncertain significance | 21 | 29042085 | 29042085 | Human | | name |
| 598203563 | CV3936465 | single nucleotide variant | NM_006447.3(USP16):c.1597G>A (p.Glu533Lys) | not specified [RCV005290554] | uncertain significance | 21 | 29046907 | 29046907 | Human | | name |
| 598275151 | CV3936467 | single nucleotide variant | NM_006447.3(USP16):c.2110G>A (p.Gly704Ser) | not specified [RCV005304285] | uncertain significance | 21 | 29050095 | 29050095 | Human | | name |
| 598275152 | CV3936468 | single nucleotide variant | NM_006447.3(USP16):c.1396C>A (p.His466Asn) | not specified [RCV005304286] | uncertain significance | 21 | 29046706 | 29046706 | Human | | name |
| 598203569 | CV3936469 | single nucleotide variant | NM_006447.3(USP16):c.1778A>G (p.Glu593Gly) | not specified [RCV005290555] | uncertain significance | 21 | 29047088 | 29047088 | Human | | name |
| 598275154 | CV3936471 | single nucleotide variant | NM_006447.3(USP16):c.1739A>G (p.Asn580Ser) | not specified [RCV005304288] | uncertain significance | 21 | 29047049 | 29047049 | Human | | name |
| 598203576 | CV3936472 | single nucleotide variant | NM_006447.3(USP16):c.2330T>C (p.Leu777Pro) | not specified [RCV005290556] | uncertain significance | 21 | 29053938 | 29053938 | Human | | name |
| 15098874 | CV743343 | single nucleotide variant | NM_001371072.1(USP11):c.453G>A (p.Val151=) | not provided [RCV000898779] | benign | X | 47239825 | 47239825 | Human | | name |
| 15098960 | CV758512 | single nucleotide variant | NM_001371072.1(USP11):c.873C>T (p.Thr291=) | not provided [RCV000915621] | likely benign | X | 47241303 | 47241303 | Human | | name |
| 8630875 | CV86030 | single nucleotide variant | NM_001199160.1(USP19):c.354C>T (p.Leu118=) | Malignant melanoma [RCV000066114] | not provided | 3 | 49117775 | 49117775 | Human | | name |
| 126909828 | CV1052983 | deletion | NM_005151.4(USP14):c.233_236del (p.Leu78fs) | Distal arthrogryposis and CNS involvement [RCV001823201]|See cases [RCV002287499]|not provided [RCV003152626] | pathogenic|uncertain significance | 18 | 178969 | 178972 | Human | 1 | name |
| 150412204 | CV1196368 | single nucleotide variant | NM_001371072.1(USP11):c.184G>C (p.Val62Leu) | not provided [RCV001574005]|not specified [RCV004039421] | uncertain significance | X | 47239077 | 47239077 | Human | | name |
| 8654126 | CV130701 | single nucleotide variant | NM_001252078.1(USP15):c.2487A>T (p.Pro829=) | Lung cancer [RCV000111188] | uncertain significance | 12 | 62393119 | 62393119 | Human | | name |
| 156372627 | CV2194485 | single nucleotide variant | NM_001199161.2(USP19):c.223C>T (p.Arg75Cys) | not specified [RCV004079578] | likely benign | 3 | 49118022 | 49118022 | Human | | name |
| 156366993 | CV2203441 | single nucleotide variant | NM_001252078.2(USP15):c.187G>A (p.Gly63Arg) | not specified [RCV004072656] | uncertain significance | 12 | 62294276 | 62294276 | Human | | name |
| 156075655 | CV2281536 | single nucleotide variant | NM_001199161.2(USP19):c.254C>T (p.Ser85Leu) | not specified [RCV004153846] | likely benign | 3 | 49117991 | 49117991 | Human | | name |
| 156065700 | CV2323768 | single nucleotide variant | NM_001199161.2(USP19):c.283G>A (p.Glu95Lys) | not specified [RCV004176316] | uncertain significance | 3 | 49117962 | 49117962 | Human | | name |
| 156070035 | CV2355940 | single nucleotide variant | NM_001199161.2(USP19):c.271A>C (p.Thr91Pro) | not specified [RCV004201321] | uncertain significance | 3 | 49117974 | 49117974 | Human | | name |
| 329353749 | CV2439642 | single nucleotide variant | NM_001199161.2(USP19):c.260G>C (p.Gly87Ala) | not specified [RCV004255657] | uncertain significance | 3 | 49117985 | 49117985 | Human | | name |
| 401731100 | CV2707712 | single nucleotide variant | NM_001199161.2(USP19):c.241T>C (p.Phe81Leu) | not specified [RCV004306967] | uncertain significance | 3 | 49118004 | 49118004 | Human | | name |
| 401925674 | CV2820910 | single nucleotide variant | NM_201402.3(USP17L2):c.887A>T (p.Gln296Leu) | not provided [RCV003436752] | likely benign | 8 | 12137874 | 12137874 | Human | | name |
| 401925675 | CV2820911 | single nucleotide variant | NM_201402.3(USP17L2):c.863G>A (p.Gly288Asp) | not provided [RCV003436753] | likely benign | 8 | 12137898 | 12137898 | Human | | name |
| 401925676 | CV2820912 | single nucleotide variant | NM_201402.3(USP17L2):c.466G>T (p.Gly156Cys) | not provided [RCV003436754] | likely benign | 8 | 12138295 | 12138295 | Human | | name |
| 401926885 | CV2821609 | single nucleotide variant | NM_001371072.1(USP11):c.2493C>A (p.Leu831=) | not provided [RCV003438193] | likely benign | X | 47247376 | 47247376 | Human | | name |
| 401926886 | CV2821610 | single nucleotide variant | NM_001371072.1(USP11):c.2583T>C (p.Phe861=) | not provided [RCV003438194] | likely benign | X | 47247657 | 47247657 | Human | | name |
| 405265498 | CV3185714 | single nucleotide variant | NM_201402.3(USP17L2):c.535G>A (p.Gly179Ser) | not provided [RCV003886278] | likely benign | 8 | 12138226 | 12138226 | Human | | name |
| 405814810 | CV3341699 | single nucleotide variant | NM_001199161.2(USP19):c.181C>G (p.Pro61Ala) | not specified [RCV004484585] | uncertain significance | 3 | 49118064 | 49118064 | Human | | name |
| 405663851 | CV3341700 | single nucleotide variant | NM_001199161.2(USP19):c.230G>A (p.Arg77His) | not specified [RCV004484586] | likely benign | 3 | 49118015 | 49118015 | Human | | name |
| 407455238 | CV3487424 | single nucleotide variant | NM_001252078.2(USP15):c.220G>A (p.Gly74Ser) | not specified [RCV004685436] | uncertain significance | 12 | 62302792 | 62302792 | Human | | name |
| 407455165 | CV3487451 | single nucleotide variant | NM_001199161.2(USP19):c.188C>T (p.Ala63Val) | not specified [RCV004685461] | uncertain significance | 3 | 49118057 | 49118057 | Human | | name |
| 597722462 | CV3626115 | single nucleotide variant | NM_001252078.2(USP15):c.182A>G (p.Tyr61Cys) | not specified [RCV004888022] | uncertain significance | 12 | 62294271 | 62294271 | Human | | name |
| 597722635 | CV3626177 | single nucleotide variant | NM_001199161.2(USP19):c.197C>T (p.Ser66Phe) | not specified [RCV004888042] | uncertain significance | 3 | 49118048 | 49118048 | Human | | name |
| 598129675 | CV3887094 | single nucleotide variant | NM_001256857.1(USP17L17):c.90T>A (p.Ala30=) | not provided [RCV005245154] | likely benign | 4 | 9243968 | 9243968 | Human | | name |
| 598203645 | CV3936495 | single nucleotide variant | NM_001199161.2(USP19):c.113A>G (p.Asp38Gly) | not specified [RCV005290568] | uncertain significance | 3 | 49119033 | 49119033 | Human | | name |
| 15099067 | CV706241 | single nucleotide variant | NM_001371072.1(USP11):c.2433C>T (p.Phe811=) | not provided [RCV000950033] | benign | X | 47247316 | 47247316 | Human | | name |
| 15099146 | CV717796 | single nucleotide variant | NM_001371072.1(USP11):c.2670G>A (p.Ala890=) | not provided [RCV000961792] | benign | X | 47247837 | 47247837 | Human | | name |
| 15190303 | CV720523 | single nucleotide variant | NM_001199161.2(USP19):c.1461G>A (p.Pro487=) | not provided [RCV000888062] | benign | 3 | 49116057 | 49116057 | Human | | name |
| 15098826 | CV729609 | single nucleotide variant | NM_001371072.1(USP11):c.1386G>A (p.Pro462=) | not provided [RCV000889387] | benign | X | 47242288 | 47242288 | Human | | name |
| 15098861 | CV729611 | single nucleotide variant | NM_001371072.1(USP11):c.2598C>A (p.Val866=) | not provided [RCV000894582] | benign | X | 47247672 | 47247672 | Human | | name |
| 15098889 | CV743344 | single nucleotide variant | NM_001371072.1(USP11):c.2481C>T (p.Tyr827=) | not provided [RCV000900959] | benign | X | 47247364 | 47247364 | Human | | name |
| 15145014 | CV748361 | single nucleotide variant | NM_001199161.2(USP19):c.1311G>A (p.Pro437=) | not provided [RCV000922469] | likely benign | 3 | 49116324 | 49116324 | Human | | name |
| 15098973 | CV758513 | single nucleotide variant | NM_001371072.1(USP11):c.2142C>T (p.Asp714=) | not provided [RCV000920066] | likely benign | X | 47245071 | 47245071 | Human | | name |
| 15098950 | CV758514 | single nucleotide variant | NM_001371072.1(USP11):c.2181C>T (p.Val727=) | not provided [RCV000914039] | likely benign | X | 47245393 | 47245393 | Human | | name |
| 15137024 | CV786842 | single nucleotide variant | NM_001371072.1(USP11):c.2571G>A (p.Gln857=) | not provided [RCV000982215] | benign | X | 47247645 | 47247645 | Human | | name |
| 8626516 | CV81660 | single nucleotide variant | NM_201402.2(USP17L2):c.475G>A (p.Glu159Lys) | Malignant melanoma [RCV000061738] | not provided | 8 | 12138286 | 12138286 | Human | | name |
| 156036678 | CV2218415 | single nucleotide variant | NM_001371072.1(USP11):c.758C>T (p.Ser253Leu) | not specified [RCV004090706] | uncertain significance | X | 47240788 | 47240788 | Human | | name |
| 156058775 | CV2239262 | single nucleotide variant | NM_001252078.2(USP15):c.499A>G (p.Lys167Glu) | not specified [RCV004112230] | uncertain significance | 12 | 62321487 | 62321487 | Human | | name |
| 156273133 | CV2247576 | single nucleotide variant | NM_001199161.2(USP19):c.941C>T (p.Pro314Leu) | not specified [RCV004108877] | uncertain significance | 3 | 49116912 | 49116912 | Human | | name |
| 156299219 | CV2248609 | single nucleotide variant | NM_001199161.2(USP19):c.362G>A (p.Arg121Lys) | not specified [RCV004121796] | uncertain significance | 3 | 49117767 | 49117767 | Human | | name |
| 156156571 | CV2266227 | single nucleotide variant | NM_001371072.1(USP11):c.391C>T (p.His131Tyr) | not specified [RCV004128793] | uncertain significance | X | 47239455 | 47239455 | Human | | name |
| 156367160 | CV2269831 | single nucleotide variant | NM_001199161.2(USP19):c.728G>A (p.Arg243Gln) | not specified [RCV004127067] | uncertain significance | 3 | 49117240 | 49117240 | Human | | name |
| 156267554 | CV2305054 | single nucleotide variant | NM_001199161.2(USP19):c.833C>T (p.Pro278Leu) | not specified [RCV004168938] | uncertain significance | 3 | 49117135 | 49117135 | Human | | name |
| 156166400 | CV2330128 | single nucleotide variant | NM_001199161.2(USP19):c.528A>T (p.Lys176Asn) | not specified [RCV004185618] | uncertain significance | 3 | 49117515 | 49117515 | Human | | name |
| 156101413 | CV2347802 | single nucleotide variant | NM_001371072.1(USP11):c.576G>C (p.Glu192Asp) | not specified [RCV004195459] | uncertain significance | X | 47240345 | 47240345 | Human | | name |
| 156086421 | CV2366283 | single nucleotide variant | NM_001199161.2(USP19):c.869G>A (p.Arg290Gln) | not specified [RCV004210298] | likely benign | 3 | 49117099 | 49117099 | Human | | name |
| 156038863 | CV2384213 | single nucleotide variant | NM_001252078.2(USP15):c.673T>C (p.Ser225Pro) | not specified [RCV004227607] | uncertain significance | 12 | 62325923 | 62325923 | Human | | name |
| 155904318 | CV2385474 | single nucleotide variant | NM_001371072.1(USP11):c.302G>A (p.Arg101His) | not specified [RCV004233121] | uncertain significance | X | 47239366 | 47239366 | Human | | name |
| 156191848 | CV2388557 | single nucleotide variant | NM_001199161.2(USP19):c.539G>A (p.Arg180His) | not specified [RCV004237405] | uncertain significance | 3 | 49117504 | 49117504 | Human | | name |
| 156159477 | CV2398116 | single nucleotide variant | NM_001199161.2(USP19):c.901G>A (p.Ala301Thr) | not specified [RCV004241700] | uncertain significance | 3 | 49117067 | 49117067 | Human | | name |
| 156451075 | CV2402452 | single nucleotide variant | NM_001199161.2(USP19):c.556C>T (p.His186Tyr) | not provided [RCV003123253] | uncertain significance | 3 | 49117487 | 49117487 | Human | | name |
| 329388383 | CV2437359 | single nucleotide variant | NM_001252078.2(USP15):c.853C>G (p.Gln285Glu) | not specified [RCV004256230] | uncertain significance | 12 | 62355413 | 62355413 | Human | | name |
| 329391446 | CV2448564 | variation | NM_001242330.1(USP17L27):c.1268= (p.His423=) | not specified [RCV004259243] | likely benign | 4 | 9345415 | 9345415 | Human | | name |
| 401740413 | CV2681404 | single nucleotide variant | NM_001199161.2(USP19):c.740G>A (p.Arg247Gln) | not specified [RCV004291949] | uncertain significance | 3 | 49117228 | 49117228 | Human | | name |
| 401879156 | CV2764857 | single nucleotide variant | NM_001199161.2(USP19):c.710G>A (p.Arg237Gln) | not specified [RCV004334952] | uncertain significance | 3 | 49117258 | 49117258 | Human | | name |
| 401894796 | CV2785289 | single nucleotide variant | NM_001199161.2(USP19):c.844G>A (p.Gly282Arg) | not specified [RCV004357051] | uncertain significance | 3 | 49117124 | 49117124 | Human | | name |
| 401925727 | CV2820903 | single nucleotide variant | NM_001256869.2(USP17L7):c.852C>T (p.Ser284=) | not provided [RCV003436745] | likely benign | 8 | 12133158 | 12133158 | Human | | name |
| 401925671 | CV2820907 | single nucleotide variant | NM_001256869.2(USP17L7):c.33C>G (p.Asp11Glu) | not provided [RCV003436749] | likely benign | 8 | 12133977 | 12133977 | Human | | name |
| 401925672 | CV2820908 | single nucleotide variant | NM_201402.3(USP17L2):c.1498G>A (p.Val500Met) | not provided [RCV003436750] | likely benign | 8 | 12137263 | 12137263 | Human | | name |
| 401923382 | CV2822426 | single nucleotide variant | NM_001256857.1(USP17L17):c.193A>C (p.Arg65=) | not provided [RCV003434974] | likely benign | 4 | 9244071 | 9244071 | Human | | name |
| 405814611 | CV3341614 | single nucleotide variant | NM_001371072.1(USP11):c.457C>T (p.Pro153Ser) | not specified [RCV004484500] | uncertain significance | X | 47239829 | 47239829 | Human | | name |
| 405814664 | CV3341644 | single nucleotide variant | NM_001252078.2(USP15):c.651T>A (p.Asp217Glu) | not specified [RCV004484530] | uncertain significance | 12 | 62325901 | 62325901 | Human | | name |
| 405814732 | CV3341657 | single nucleotide variant | NM_001242330.1(USP17L27):c.11A>G (p.Asp4Gly) | not specified [RCV004484543] | uncertain significance | 4 | 9344158 | 9344158 | Human | | name |
| 405663653 | CV3341707 | single nucleotide variant | NM_001199161.2(USP19):c.543G>C (p.Lys181Asn) | not specified [RCV004484593] | uncertain significance | 3 | 49117500 | 49117500 | Human | | name |
| 405663522 | CV3341708 | single nucleotide variant | NM_001199161.2(USP19):c.586C>G (p.Leu196Val) | not specified [RCV004484594] | uncertain significance | 3 | 49117457 | 49117457 | Human | | name |
| 405663383 | CV3341709 | single nucleotide variant | NM_001199161.2(USP19):c.647G>A (p.Arg216Gln) | not specified [RCV004484595] | likely benign | 3 | 49117321 | 49117321 | Human | | name |
| 407455137 | CV3487403 | single nucleotide variant | NM_001371072.1(USP11):c.929G>C (p.Gly310Ala) | not specified [RCV004685419] | uncertain significance | X | 47241359 | 47241359 | Human | | name |
| 407462595 | CV3487405 | single nucleotide variant | NM_001371072.1(USP11):c.500C>T (p.Ser167Phe) | not specified [RCV004688014] | uncertain significance | X | 47239872 | 47239872 | Human | | name |
| 407455151 | CV3487442 | single nucleotide variant | NM_001199161.2(USP19):c.332C>T (p.Thr111Ile) | not specified [RCV004685454] | uncertain significance | 3 | 49117797 | 49117797 | Human | | name |
| 407455267 | CV3487443 | single nucleotide variant | NM_001199161.2(USP19):c.538C>G (p.Arg180Gly) | not specified [RCV004685455] | uncertain significance | 3 | 49117505 | 49117505 | Human | | name |
| 407455156 | CV3487445 | single nucleotide variant | NM_001199161.2(USP19):c.709C>T (p.Arg237Trp) | not specified [RCV004685457] | uncertain significance | 3 | 49117259 | 49117259 | Human | | name |
| 407455163 | CV3487450 | single nucleotide variant | NM_001199161.2(USP19):c.394C>T (p.Arg132Cys) | not specified [RCV004685460] | uncertain significance | 3 | 49117735 | 49117735 | Human | | name |
| 407455167 | CV3487452 | single nucleotide variant | NM_001199161.2(USP19):c.802G>A (p.Ala268Thr) | not specified [RCV004685462] | uncertain significance | 3 | 49117166 | 49117166 | Human | | name |
| 407455171 | CV3487454 | single nucleotide variant | NM_001199161.2(USP19):c.475G>T (p.Gly159Cys) | not specified [RCV004685464] | uncertain significance | 3 | 49117568 | 49117568 | Human | | name |
| 597798347 | CV3626086 | single nucleotide variant | NM_001371072.1(USP11):c.559G>A (p.Glu187Lys) | not specified [RCV004879147] | uncertain significance | X | 47240328 | 47240328 | Human | | name |
| 597722436 | CV3626110 | single nucleotide variant | NM_001252078.2(USP15):c.446C>T (p.Thr149Ile) | not specified [RCV004888020] | uncertain significance | 12 | 62314887 | 62314887 | Human | | name |
| 597798431 | CV3626178 | single nucleotide variant | NM_001199161.2(USP19):c.520T>C (p.Cys174Arg) | not specified [RCV004879192] | uncertain significance | 3 | 49117523 | 49117523 | Human | | name |
| 597798439 | CV3626185 | single nucleotide variant | NM_001199161.2(USP19):c.658A>G (p.Asn220Asp) | not specified [RCV004879196] | uncertain significance | 3 | 49117310 | 49117310 | Human | | name |
| 598129676 | CV3887095 | single nucleotide variant | NM_001256857.1(USP17L17):c.276C>T (p.Asn92=) | not provided [RCV005245155] | likely benign | 4 | 9244154 | 9244154 | Human | | name |
| 598275121 | CV3936434 | single nucleotide variant | NM_001371072.1(USP11):c.943A>G (p.Ile315Val) | not specified [RCV005304269] | uncertain significance | X | 47241373 | 47241373 | Human | | name |
| 598275142 | CV3936459 | single nucleotide variant | NM_001252078.2(USP15):c.552G>A (p.Met184Ile) | not specified [RCV005304280] | uncertain significance | 12 | 62321540 | 62321540 | Human | | name |
| 598203582 | CV3936474 | variation | NM_001242330.1(USP17L27):c.1057= (p.Glu353=) | not specified [RCV005290557] | likely benign | 4 | 9345204 | 9345204 | Human | | name |
| 598203665 | CV3936503 | single nucleotide variant | NM_001199161.2(USP19):c.596C>T (p.Pro199Leu) | not specified [RCV005290571] | uncertain significance | 3 | 49117447 | 49117447 | Human | | name |
| 8632814 | CV88029 | single nucleotide variant | NM_201402.2(USP17L2):c.1205G>A (p.Arg402Gln) | Malignant melanoma [RCV000068121] | not provided | 8 | 12137556 | 12137556 | Human | | name |
| 150411247 | CV1195980 | single nucleotide variant | NM_001256860.1(USP17L19):c.67T>C (p.Ser23Pro) | not provided [RCV001573576]|not specified [RCV001726594] | benign|likely benign | 4 | 9253444 | 9253444 | Human | | name |
| 10398631 | CV204091 | single nucleotide variant | NM_001199161.2(USP19):c.1134G>T (p.Glu378Asp) | Long QT syndrome [RCV000190198] | likely benign | 3 | 49116600 | 49116600 | Human | 2 | name |
| 156397893 | CV2193886 | single nucleotide variant | NM_001371072.1(USP11):c.1498G>A (p.Ala500Thr) | not specified [RCV004074627] | uncertain significance | X | 47242635 | 47242635 | Human | | name |
| 156179773 | CV2201685 | single nucleotide variant | NM_001199161.2(USP19):c.2485G>A (p.Glu829Lys) | not specified [RCV004082139] | uncertain significance | 3 | 49114012 | 49114012 | Human | | name |
| 156089272 | CV2202049 | single nucleotide variant | NM_001199161.2(USP19):c.1210G>A (p.Val404Met) | not specified [RCV004075967] | uncertain significance | 3 | 49116524 | 49116524 | Human | | name |
| 156110417 | CV2207611 | single nucleotide variant | NM_001199161.2(USP19):c.2232C>G (p.Phe744Leu) | not specified [RCV004090393] | uncertain significance | 3 | 49114823 | 49114823 | Human | | name |
| 156378953 | CV2207847 | single nucleotide variant | NM_001199161.2(USP19):c.1034C>T (p.Ser345Phe) | not specified [RCV004084279] | uncertain significance | 3 | 49116819 | 49116819 | Human | | name |
| 156116716 | CV2209108 | single nucleotide variant | NM_001199161.2(USP19):c.1306C>T (p.His436Tyr) | not specified [RCV004093335] | uncertain significance | 3 | 49116329 | 49116329 | Human | | name |
| 155940861 | CV2232269 | single nucleotide variant | NM_001371072.1(USP11):c.2218G>A (p.Glu740Lys) | not specified [RCV004105052] | uncertain significance | X | 47245430 | 47245430 | Human | | name |
| 155941108 | CV2232443 | single nucleotide variant | NM_001199161.2(USP19):c.2207G>A (p.Arg736Gln) | not specified [RCV004099062] | uncertain significance | 3 | 49114848 | 49114848 | Human | | name |
| 155920921 | CV2240440 | single nucleotide variant | NM_001252078.2(USP15):c.1901G>T (p.Cys634Phe) | not specified [RCV004117329] | uncertain significance | 12 | 62390920 | 62390920 | Human | | name |
| 156078783 | CV2248384 | single nucleotide variant | NM_001371072.1(USP11):c.2065A>G (p.Thr689Ala) | not specified [RCV004119530] | uncertain significance | X | 47244903 | 47244903 | Human | | name |
| 156071495 | CV2251420 | single nucleotide variant | NM_001242330.1(USP17L27):c.80C>A (p.Ala27Glu) | not specified [RCV004117402] | uncertain significance | 4 | 9344227 | 9344227 | Human | | name |
| 156175405 | CV2254659 | single nucleotide variant | NM_001371072.1(USP11):c.1503T>A (p.Asp501Glu) | not specified [RCV004115146] | uncertain significance | X | 47242640 | 47242640 | Human | | name |
| 156175420 | CV2254660 | single nucleotide variant | NM_001371072.1(USP11):c.1505T>A (p.Val502Asp) | not specified [RCV004115147] | uncertain significance | X | 47242642 | 47242642 | Human | | name |
| 156175435 | CV2254661 | single nucleotide variant | NM_001371072.1(USP11):c.1507T>A (p.Phe503Ile) | not specified [RCV004115148] | uncertain significance | X | 47242644 | 47242644 | Human | | name |
| 156334479 | CV2263296 | single nucleotide variant | NM_001252078.2(USP15):c.1693G>A (p.Val565Met) | not specified [RCV004133574] | uncertain significance | 12 | 62389837 | 62389837 | Human | | name |
| 155972085 | CV2271490 | single nucleotide variant | NM_001199161.2(USP19):c.1963G>A (p.Val655Met) | not specified [RCV004128586] | uncertain significance | 3 | 49115287 | 49115287 | Human | | name |
| 155982451 | CV2272971 | single nucleotide variant | NM_001252078.2(USP15):c.2902A>G (p.Asn968Asp) | not specified [RCV004137640] | uncertain significance | 12 | 62404331 | 62404331 | Human | | name |
| 155991506 | CV2276599 | single nucleotide variant | NM_001252078.2(USP15):c.1512T>A (p.Asp504Glu) | not specified [RCV004146086] | uncertain significance | 12 | 62389469 | 62389469 | Human | | name |
| 155929071 | CV2277931 | single nucleotide variant | NM_001199161.2(USP19):c.2708C>T (p.Ser903Leu) | not specified [RCV004141184] | uncertain significance | 3 | 49112341 | 49112341 | Human | | name |
| 156245564 | CV2283431 | single nucleotide variant | NM_001252078.2(USP15):c.2620C>A (p.Arg874Ser) | not specified [RCV004139654] | uncertain significance | 12 | 62396344 | 62396344 | Human | | name |
| 155959971 | CV2285345 | single nucleotide variant | NM_001252078.2(USP15):c.1939A>T (p.Ile647Leu) | not specified [RCV004139219] | uncertain significance | 12 | 62390958 | 62390958 | Human | | name |
| 156002656 | CV2288098 | single nucleotide variant | NM_001199161.2(USP19):c.1061C>G (p.Pro354Arg) | not specified [RCV004149633] | uncertain significance | 3 | 49116792 | 49116792 | Human | | name |
| 156010346 | CV2291005 | single nucleotide variant | NM_001199161.2(USP19):c.2812C>G (p.Pro938Ala) | not specified [RCV004151552] | uncertain significance | 3 | 49112002 | 49112002 | Human | | name |
| 155940124 | CV2294030 | single nucleotide variant | NM_001199161.2(USP19):c.2398A>T (p.Ile800Phe) | not specified [RCV004149418] | uncertain significance | 3 | 49114179 | 49114179 | Human | | name |
| 155908172 | CV2302369 | single nucleotide variant | NM_001252078.2(USP15):c.2497G>A (p.Val833Ile) | not specified [RCV004161121] | uncertain significance | 12 | 62393129 | 62393129 | Human | | name |
| 156166945 | CV2319973 | single nucleotide variant | NM_001199161.2(USP19):c.1204G>A (p.Val402Met) | not specified [RCV004167846] | uncertain significance | 3 | 49116530 | 49116530 | Human | | name |
| 156352650 | CV2324018 | single nucleotide variant | NM_001199161.2(USP19):c.1460C>T (p.Pro487Leu) | not specified [RCV004176531] | uncertain significance | 3 | 49116058 | 49116058 | Human | | name |
| 156395148 | CV2325178 | single nucleotide variant | NM_001371072.1(USP11):c.2653C>A (p.Gln885Lys) | not specified [RCV004177595] | uncertain significance | X | 47247820 | 47247820 | Human | | name |
| 156274841 | CV2330629 | single nucleotide variant | NM_001252078.2(USP15):c.1852G>A (p.Val618Ile) | not specified [RCV004183658] | uncertain significance | 12 | 62390871 | 62390871 | Human | | name |
| 155914009 | CV2341904 | single nucleotide variant | NM_001371072.1(USP11):c.1867G>A (p.Asp623Asn) | not specified [RCV004184852] | likely benign | X | 47244705 | 47244705 | Human | | name |
| 156003400 | CV2357452 | single nucleotide variant | NM_001371072.1(USP11):c.2729C>T (p.Ser910Phe) | not specified [RCV004202744] | uncertain significance | X | 47247896 | 47247896 | Human | | name |
| 156255020 | CV2358934 | single nucleotide variant | NM_001199161.2(USP19):c.1664C>A (p.Thr555Asn) | not specified [RCV004212269] | uncertain significance | 3 | 49115752 | 49115752 | Human | | name |
| 156336665 | CV2360786 | single nucleotide variant | NM_001199161.2(USP19):c.2510T>C (p.Ile837Thr) | not specified [RCV004213563] | uncertain significance | 3 | 49112625 | 49112625 | Human | | name |
| 155908704 | CV2387411 | single nucleotide variant | NM_001199161.2(USP19):c.2839G>T (p.Val947Phe) | not specified [RCV004240278] | uncertain significance | 3 | 49111975 | 49111975 | Human | | name |
| 156172181 | CV2400764 | single nucleotide variant | NM_001199161.2(USP19):c.1071T>A (p.Asp357Glu) | not specified [RCV004242428] | uncertain significance | 3 | 49116782 | 49116782 | Human | | name |
| 329359312 | CV2435419 | single nucleotide variant | NM_001199161.2(USP19):c.1100C>T (p.Ala367Val) | not specified [RCV004253071] | uncertain significance | 3 | 49116753 | 49116753 | Human | | name |
| 329361547 | CV2437620 | single nucleotide variant | NM_001199161.2(USP19):c.1498G>A (p.Val500Met) | not specified [RCV004260939] | uncertain significance | 3 | 49115918 | 49115918 | Human | | name |
| 329379764 | CV2443545 | single nucleotide variant | NM_001252078.2(USP15):c.1069G>A (p.Val357Ile) | not specified [RCV004262373] | uncertain significance | 12 | 62381643 | 62381643 | Human | | name |
| 329368543 | CV2450356 | single nucleotide variant | NM_001199161.2(USP19):c.2186T>C (p.Val729Ala) | not specified [RCV004271432] | uncertain significance | 3 | 49114869 | 49114869 | Human | | name |
| 329379938 | CV2452848 | single nucleotide variant | NM_001252078.2(USP15):c.2446C>G (p.Gln816Glu) | not specified [RCV004277499] | uncertain significance | 12 | 62393078 | 62393078 | Human | | name |
| 329372237 | CV2455121 | single nucleotide variant | NM_001252078.2(USP15):c.1291G>T (p.Asp431Tyr) | not specified [RCV004272365] | uncertain significance | 12 | 62384120 | 62384120 | Human | | name |
| 329395283 | CV2457905 | single nucleotide variant | NM_001252078.2(USP15):c.1922G>A (p.Gly641Glu) | not specified [RCV004271495] | uncertain significance | 12 | 62390941 | 62390941 | Human | | name |
| 329393126 | CV2469340 | single nucleotide variant | NM_001371072.1(USP11):c.2419C>T (p.Arg807Trp) | not specified [RCV004280671] | uncertain significance | X | 47247220 | 47247220 | Human | | name |
| 329388844 | CV2469614 | single nucleotide variant | NM_001199161.2(USP19):c.2353G>A (p.Val785Ile) | not specified [RCV004283042] | uncertain significance | 3 | 49114224 | 49114224 | Human | | name |
| 401780214 | CV2673921 | single nucleotide variant | NM_001199161.2(USP19):c.1973G>A (p.Arg658Gln) | not specified [RCV004293295] | uncertain significance | 3 | 49115277 | 49115277 | Human | | name |
| 401768154 | CV2675071 | single nucleotide variant | NM_001199161.2(USP19):c.1616A>G (p.Asp539Gly) | not specified [RCV004289853] | uncertain significance | 3 | 49115800 | 49115800 | Human | | name |
| 401740319 | CV2683323 | single nucleotide variant | NM_001371072.1(USP11):c.2288A>G (p.Lys763Arg) | not specified [RCV004288099] | uncertain significance | X | 47247089 | 47247089 | Human | | name |
| 401745288 | CV2693224 | single nucleotide variant | NM_001199161.2(USP19):c.1447G>A (p.Gly483Ser) | not specified [RCV004295199] | uncertain significance | 3 | 49116071 | 49116071 | Human | | name |
| 401752222 | CV2710604 | single nucleotide variant | NM_001199161.2(USP19):c.2278C>T (p.Pro760Ser) | not specified [RCV004319520] | uncertain significance | 3 | 49114777 | 49114777 | Human | | name |
| 401780906 | CV2716977 | single nucleotide variant | NM_001242330.1(USP17L27):c.31G>C (p.Glu11Gln) | not specified [RCV004330049] | uncertain significance | 4 | 9344178 | 9344178 | Human | | name |
| 401752265 | CV2723177 | single nucleotide variant | NM_001199161.2(USP19):c.1664C>T (p.Thr555Ile) | not specified [RCV004329421] | uncertain significance | 3 | 49115752 | 49115752 | Human | | name |
| 401884283 | CV2761639 | single nucleotide variant | NM_001371072.1(USP11):c.1744C>T (p.Arg582Cys) | not specified [RCV004337259] | uncertain significance | X | 47243556 | 47243556 | Human | | name |
| 401891580 | CV2769023 | single nucleotide variant | NM_001371072.1(USP11):c.2093C>T (p.Pro698Leu) | not specified [RCV004348894] | uncertain significance | X | 47245022 | 47245022 | Human | | name |
| 401892081 | CV2777215 | single nucleotide variant | NM_001199161.2(USP19):c.1522G>A (p.Asp508Asn) | not specified [RCV004354248] | uncertain significance | 3 | 49115894 | 49115894 | Human | | name |
| 401878176 | CV2777784 | single nucleotide variant | NM_001252078.2(USP15):c.1562T>C (p.Ile521Thr) | not specified [RCV004345612] | uncertain significance | 12 | 62389609 | 62389609 | Human | | name |
| 401880426 | CV2780085 | single nucleotide variant | NM_001252078.2(USP15):c.2014C>G (p.Pro672Ala) | not specified [RCV004355747] | uncertain significance | 12 | 62391210 | 62391210 | Human | | name |
| 401871611 | CV2783554 | single nucleotide variant | NM_001199161.2(USP19):c.1943G>A (p.Arg648His) | not specified [RCV004365883] | uncertain significance | 3 | 49115307 | 49115307 | Human | | name |
| 401923871 | CV2820843 | single nucleotide variant | NM_001256873.1(USP17L1):c.1182C>T (p.Leu394=) | not provided [RCV003435420] | likely benign | 8 | 7333568 | 7333568 | Human | | name |
| 401923874 | CV2820845 | single nucleotide variant | NM_001256874.1(USP17L4):c.122C>A (p.Ser41Ter) | not provided [RCV003435422] | likely benign | 8 | 7337236 | 7337236 | Human | | name |
| 401925693 | CV2820905 | single nucleotide variant | NM_001256869.2(USP17L7):c.145T>G (p.Phe49Val) | not provided [RCV003436747] | likely benign | 8 | 12133865 | 12133865 | Human | | name |
| 401925670 | CV2820906 | single nucleotide variant | NM_001256869.2(USP17L7):c.139A>G (p.Thr47Ala) | not provided [RCV003436748] | likely benign | 8 | 12133871 | 12133871 | Human | | name |
| 401926884 | CV2821608 | single nucleotide variant | NM_001371072.1(USP11):c.2465C>T (p.Ser822Leu) | not provided [RCV003438192]|not specified [RCV004364642] | likely benign|uncertain significance | X | 47247348 | 47247348 | Human | | name |
| 401927939 | CV2822427 | single nucleotide variant | NM_001256863.1(USP17L22):c.852C>T (p.Ser284=) | not provided [RCV003439257] | likely benign | 4 | 9268470 | 9268470 | Human | | name |
| 401927941 | CV2822428 | single nucleotide variant | NM_001256863.1(USP17L22):c.870G>A (p.Lys290=) | not provided [RCV003439258] | likely benign | 4 | 9268488 | 9268488 | Human | | name |
| 405814603 | CV3341610 | single nucleotide variant | NM_001371072.1(USP11):c.1339A>G (p.Ile447Val) | not specified [RCV004484496] | likely benign | X | 47242241 | 47242241 | Human | | name |
| 405814605 | CV3341611 | single nucleotide variant | NM_001371072.1(USP11):c.1529T>C (p.Leu510Pro) | not specified [RCV004484497] | uncertain significance | X | 47242666 | 47242666 | Human | | name |
| 405814607 | CV3341612 | single nucleotide variant | NM_001371072.1(USP11):c.1943C>T (p.Thr648Met) | not specified [RCV004484498] | uncertain significance | X | 47244781 | 47244781 | Human | | name |
| 405814609 | CV3341613 | single nucleotide variant | NM_001371072.1(USP11):c.2179G>A (p.Val727Ile) | not specified [RCV004484499] | uncertain significance | X | 47245391 | 47245391 | Human | | name |
| 405814657 | CV3341640 | single nucleotide variant | NM_001252078.2(USP15):c.1093C>G (p.Gln365Glu) | not specified [RCV004484526] | uncertain significance | 12 | 62383843 | 62383843 | Human | | name |
| 405814661 | CV3341642 | single nucleotide variant | NM_001252078.2(USP15):c.2897A>G (p.Asn966Ser) | not specified [RCV004484528] | uncertain significance | 12 | 62404326 | 62404326 | Human | | name |
| 405814663 | CV3341643 | single nucleotide variant | NM_001252078.2(USP15):c.2933T>G (p.Met978Arg) | not specified [RCV004484529] | uncertain significance | 12 | 62404362 | 62404362 | Human | | name |
| 405814764 | CV3341674 | single nucleotide variant | NM_001242330.1(USP17L27):c.43A>C (p.Asn15His) | not specified [RCV004484560] | uncertain significance | 4 | 9344190 | 9344190 | Human | | name |
| 405814773 | CV3341679 | single nucleotide variant | NM_001242330.1(USP17L27):c.83C>T (p.Ala28Val) | not specified [RCV004484565] | uncertain significance | 4 | 9344230 | 9344230 | Human | | name |
| 405814777 | CV3341681 | single nucleotide variant | NM_001242330.1(USP17L27):c.88G>C (p.Ala30Pro) | not specified [RCV004484567] | uncertain significance | 4 | 9344235 | 9344235 | Human | | name |
| 405814795 | CV3341691 | single nucleotide variant | NM_001199161.2(USP19):c.1042A>G (p.Met348Val) | not specified [RCV004484577] | uncertain significance | 3 | 49116811 | 49116811 | Human | | name |
| 405814797 | CV3341692 | single nucleotide variant | NM_001199161.2(USP19):c.1184C>T (p.Pro395Leu) | not specified [RCV004484578] | uncertain significance | 3 | 49116550 | 49116550 | Human | | name |
| 405814799 | CV3341693 | single nucleotide variant | NM_001199161.2(USP19):c.1310C>T (p.Pro437Leu) | not specified [RCV004484579] | uncertain significance | 3 | 49116325 | 49116325 | Human | | name |
| 405814801 | CV3341694 | single nucleotide variant | NM_001199161.2(USP19):c.1325A>T (p.His442Leu) | not specified [RCV004484580] | uncertain significance | 3 | 49116310 | 49116310 | Human | | name |
| 405814803 | CV3341695 | single nucleotide variant | NM_001199161.2(USP19):c.1448G>T (p.Gly483Val) | not specified [RCV004484581] | uncertain significance | 3 | 49116070 | 49116070 | Human | | name |
| 405814806 | CV3341697 | single nucleotide variant | NM_001199161.2(USP19):c.1513A>G (p.Thr505Ala) | not specified [RCV004484583] | uncertain significance | 3 | 49115903 | 49115903 | Human | | name |
| 405814808 | CV3341698 | single nucleotide variant | NM_001199161.2(USP19):c.1629C>G (p.Asp543Glu) | not specified [RCV004484584] | likely benign | 3 | 49115787 | 49115787 | Human | | name |
| 405663846 | CV3341701 | single nucleotide variant | NM_001199161.2(USP19):c.2359C>T (p.Pro787Ser) | not specified [RCV004484587] | uncertain significance | 3 | 49114218 | 49114218 | Human | | name |
| 405663835 | CV3341703 | single nucleotide variant | NM_001199161.2(USP19):c.2619G>C (p.Glu873Asp) | not specified [RCV004484589] | uncertain significance | 3 | 49112516 | 49112516 | Human | | name |
| 405663831 | CV3341704 | single nucleotide variant | NM_001199161.2(USP19):c.2708C>G (p.Ser903Trp) | not specified [RCV004484590] | uncertain significance | 3 | 49112341 | 49112341 | Human | | name |
| 407455139 | CV3487404 | single nucleotide variant | NM_001371072.1(USP11):c.1618G>A (p.Gly540Ser) | not specified [RCV004685420] | uncertain significance | X | 47243430 | 47243430 | Human | | name |
| 407455242 | CV3487422 | single nucleotide variant | NM_001252078.2(USP15):c.2620C>T (p.Arg874Cys) | not specified [RCV004685434] | uncertain significance | 12 | 62396344 | 62396344 | Human | | name |
| 407455240 | CV3487423 | single nucleotide variant | NM_001252078.2(USP15):c.1994C>A (p.Ser665Tyr) | not specified [RCV004685435] | uncertain significance | 12 | 62391190 | 62391190 | Human | | name |
| 407455236 | CV3487425 | single nucleotide variant | NM_001252078.2(USP15):c.2240C>G (p.Ser747Cys) | not specified [RCV004685437] | uncertain significance | 12 | 62391822 | 62391822 | Human | | name |
| 407455148 | CV3487441 | single nucleotide variant | NM_001199161.2(USP19):c.1151C>T (p.Ala384Val) | not specified [RCV004685453] | uncertain significance | 3 | 49116583 | 49116583 | Human | | name |
| 407455154 | CV3487444 | single nucleotide variant | NM_001199161.2(USP19):c.2788C>G (p.Pro930Ala) | not specified [RCV004685456] | uncertain significance | 3 | 49112026 | 49112026 | Human | | name |
| 407455158 | CV3487447 | single nucleotide variant | NM_001199161.2(USP19):c.1764A>C (p.Glu588Asp) | not specified [RCV004685458] | uncertain significance | 3 | 49115568 | 49115568 | Human | | name |
| 407462609 | CV3487448 | single nucleotide variant | NM_001199161.2(USP19):c.1018G>A (p.Gly340Arg) | not specified [RCV004688019] | likely benign | 3 | 49116835 | 49116835 | Human | | name |
| 407455160 | CV3487449 | single nucleotide variant | NM_001199161.2(USP19):c.2338C>T (p.Pro780Ser) | not specified [RCV004685459] | uncertain significance | 3 | 49114239 | 49114239 | Human | | name |
| 407455174 | CV3487455 | single nucleotide variant | NM_001199161.2(USP19):c.2696G>A (p.Arg899Gln) | not specified [RCV004685465] | uncertain significance | 3 | 49112353 | 49112353 | Human | | name |
| 407455176 | CV3487458 | single nucleotide variant | NM_001199161.2(USP19):c.2216T>A (p.Met739Lys) | not specified [RCV004685466] | uncertain significance | 3 | 49114839 | 49114839 | Human | | name |
| 596947943 | CV3547534 | single nucleotide variant | NM_001256857.1(USP17L17):c.306G>A (p.Pro102=) | not provided [RCV004811838] | likely benign | 4 | 9244184 | 9244184 | Human | | name |
| 596947979 | CV3547570 | single nucleotide variant | NM_001256857.1(USP17L17):c.327G>C (p.Leu109=) | not provided [RCV004811874] | likely benign | 4 | 9244205 | 9244205 | Human | | name |
| 12791780 | CV362140 | single nucleotide variant | NM_001199161.2(USP19):c.1660G>T (p.Val554Leu) | Epileptic encephalopathy [RCV000416476] | pathogenic | 3 | 49115756 | 49115756 | Human | 2 | name |
| 12791687 | CV362141 | single nucleotide variant | NM_001199161.2(USP19):c.1572G>T (p.Glu524Asp) | Epileptic encephalopathy [RCV000416439] | pathogenic | 3 | 49115844 | 49115844 | Human | 2 | name |
| 597722299 | CV3626082 | single nucleotide variant | NM_001371072.1(USP11):c.1672C>T (p.Arg558Cys) | not specified [RCV004888010] | uncertain significance | X | 47243484 | 47243484 | Human | | name |
| 597791451 | CV3626083 | single nucleotide variant | NM_001371072.1(USP11):c.2087C>A (p.Ala696Asp) | not specified [RCV004876665] | uncertain significance | X | 47245016 | 47245016 | Human | | name |
| 597798343 | CV3626084 | single nucleotide variant | NM_001371072.1(USP11):c.1568G>A (p.Arg523His) | not specified [RCV004879146] | uncertain significance | X | 47242705 | 47242705 | Human | | name |
| 597722315 | CV3626085 | single nucleotide variant | NM_001371072.1(USP11):c.1904A>T (p.Asp635Val) | not specified [RCV004888011] | uncertain significance | X | 47244742 | 47244742 | Human | | name |
| 597798350 | CV3626089 | single nucleotide variant | NM_001371072.1(USP11):c.1828G>A (p.Asp610Asn) | not specified [RCV004879148] | uncertain significance | X | 47244535 | 47244535 | Human | | name |
| 597798351 | CV3626090 | single nucleotide variant | NM_001371072.1(USP11):c.2072C>G (p.Pro691Arg) | not specified [RCV004879149] | uncertain significance | X | 47244910 | 47244910 | Human | | name |
| 597722343 | CV3626092 | single nucleotide variant | NM_001371072.1(USP11):c.1358T>C (p.Leu453Ser) | not specified [RCV004888013] | uncertain significance | X | 47242260 | 47242260 | Human | | name |
| 597798384 | CV3626111 | single nucleotide variant | NM_001252078.2(USP15):c.1729C>T (p.His577Tyr) | not specified [RCV004879160] | uncertain significance | 12 | 62389873 | 62389873 | Human | | name |
| 597798387 | CV3626112 | single nucleotide variant | NM_001252078.2(USP15):c.1492A>C (p.Lys498Gln) | not specified [RCV004879161] | uncertain significance | 12 | 62389449 | 62389449 | Human | | name |
| 597723156 | CV3626113 | single nucleotide variant | NM_001252078.2(USP15):c.2837G>A (p.Arg946Gln) | not specified [RCV004888021] | uncertain significance | 12 | 62404266 | 62404266 | Human | | name |
| 597798390 | CV3626114 | single nucleotide variant | NM_001252078.2(USP15):c.2129G>A (p.Arg710Gln) | not specified [RCV004879162] | uncertain significance | 12 | 62391325 | 62391325 | Human | | name |
| 597722472 | CV3626116 | single nucleotide variant | NM_001252078.2(USP15):c.2180T>A (p.Ile727Asn) | not specified [RCV004888023] | uncertain significance | 12 | 62391376 | 62391376 | Human | | name |
| 597798392 | CV3626118 | single nucleotide variant | NM_001252078.2(USP15):c.2939C>G (p.Thr980Ser) | not specified [RCV004879163] | uncertain significance | 12 | 62404368 | 62404368 | Human | | name |
| 597798395 | CV3626119 | single nucleotide variant | NM_001252078.2(USP15):c.2060A>T (p.Asp687Val) | not specified [RCV004879164] | uncertain significance | 12 | 62391256 | 62391256 | Human | | name |
| 597690797 | CV3626136 | single nucleotide variant | NM_001242330.1(USP17L27):c.70C>T (p.Arg24Trp) | not specified [RCV004888031] | uncertain significance | 4 | 9344217 | 9344217 | Human | | name |
| 597691165 | CV3626154 | single nucleotide variant | NM_001242330.1(USP17L27):c.32A>C (p.Glu11Ala) | not specified [RCV004879183] | uncertain significance | 4 | 9344179 | 9344179 | Human | | name |
| 597722571 | CV3626167 | single nucleotide variant | NM_001199161.2(USP19):c.1576C>T (p.Arg526Trp) | not specified [RCV004888037] | uncertain significance | 3 | 49115840 | 49115840 | Human | | name |
| 597798425 | CV3626169 | single nucleotide variant | NM_001199161.2(USP19):c.2673C>G (p.Ile891Met) | not specified [RCV004879189] | uncertain significance | 3 | 49112376 | 49112376 | Human | | name |
| 597798427 | CV3626171 | single nucleotide variant | NM_001199161.2(USP19):c.2620C>T (p.Arg874Trp) | not specified [RCV004879190] | uncertain significance | 3 | 49112515 | 49112515 | Human | | name |
| 597722611 | CV3626175 | single nucleotide variant | NM_001199161.2(USP19):c.1617C>G (p.Asp539Glu) | not specified [RCV004888040] | uncertain significance | 3 | 49115799 | 49115799 | Human | | name |
| 597722624 | CV3626176 | single nucleotide variant | NM_001199161.2(USP19):c.1918A>T (p.Asn640Tyr) | not specified [RCV004888041] | uncertain significance | 3 | 49115332 | 49115332 | Human | | name |
| 597722648 | CV3626179 | single nucleotide variant | NM_001199161.2(USP19):c.1076G>T (p.Cys359Phe) | not specified [RCV004888043] | uncertain significance | 3 | 49116777 | 49116777 | Human | | name |
| 597722657 | CV3626181 | single nucleotide variant | NM_001199161.2(USP19):c.1628A>G (p.Asp543Gly) | not specified [RCV004888044] | uncertain significance | 3 | 49115788 | 49115788 | Human | | name |
| 598275123 | CV3936435 | single nucleotide variant | NM_001371072.1(USP11):c.2692G>A (p.Gly898Ser) | not specified [RCV005304270] | uncertain significance | X | 47247859 | 47247859 | Human | | name |
| 598203461 | CV3936436 | single nucleotide variant | NM_001371072.1(USP11):c.1673G>A (p.Arg558His) | not specified [RCV005290538] | uncertain significance | X | 47243485 | 47243485 | Human | | name |
| 598203467 | CV3936437 | single nucleotide variant | NM_001371072.1(USP11):c.1420C>T (p.Pro474Ser) | not specified [RCV005290539] | uncertain significance | X | 47242454 | 47242454 | Human | | name |
| 598203545 | CV3936458 | single nucleotide variant | NM_001252078.2(USP15):c.1573A>G (p.Ile525Val) | not specified [RCV005290551] | uncertain significance | 12 | 62389620 | 62389620 | Human | | name |
| 598203550 | CV3936460 | single nucleotide variant | NM_001252078.2(USP15):c.2248G>A (p.Ala750Thr) | not specified [RCV005290552] | uncertain significance | 12 | 62391830 | 62391830 | Human | | name |
| 598203589 | CV3936476 | single nucleotide variant | NM_001242330.1(USP17L27):c.74C>T (p.Pro25Leu) | not specified [RCV005290558] | uncertain significance | 4 | 9344221 | 9344221 | Human | | name |
| 598203629 | CV3936491 | single nucleotide variant | NM_001199161.2(USP19):c.2476G>A (p.Val826Met) | not specified [RCV005290565] | uncertain significance | 3 | 49114021 | 49114021 | Human | | name |
| 598275166 | CV3936497 | single nucleotide variant | NM_001199161.2(USP19):c.2621G>A (p.Arg874Gln) | not specified [RCV005304300] | uncertain significance | 3 | 49112514 | 49112514 | Human | | name |
| 598275168 | CV3936499 | single nucleotide variant | NM_001199161.2(USP19):c.2170C>T (p.Arg724Trp) | not specified [RCV005304302] | uncertain significance | 3 | 49114970 | 49114970 | Human | | name |
| 598275169 | CV3936500 | single nucleotide variant | NM_001199161.2(USP19):c.2209C>A (p.His737Asn) | not specified [RCV005304303] | uncertain significance | 3 | 49114846 | 49114846 | Human | | name |
| 598275170 | CV3936501 | single nucleotide variant | NM_001199161.2(USP19):c.1265C>T (p.Thr422Met) | not specified [RCV005304304] | uncertain significance | 3 | 49116469 | 49116469 | Human | | name |
| 598203657 | CV3936502 | single nucleotide variant | NM_001199161.2(USP19):c.1892G>A (p.Arg631His) | not specified [RCV005290570] | uncertain significance | 3 | 49115358 | 49115358 | Human | | name |
| 598203671 | CV3936505 | single nucleotide variant | NM_001199161.2(USP19):c.1975G>A (p.Ala659Thr) | not specified [RCV005290572] | uncertain significance | 3 | 49115275 | 49115275 | Human | | name |
| 598275172 | CV3936506 | single nucleotide variant | NM_001199161.2(USP19):c.2803C>T (p.Leu935Phe) | not specified [RCV005304306] | uncertain significance | 3 | 49112011 | 49112011 | Human | | name |
| 598203678 | CV3936507 | single nucleotide variant | NM_001199161.2(USP19):c.1447G>C (p.Gly483Arg) | not specified [RCV005290573] | uncertain significance | 3 | 49116071 | 49116071 | Human | | name |
| 598275173 | CV3936509 | single nucleotide variant | NM_001199161.2(USP19):c.2944C>T (p.Arg982Cys) | not specified [RCV005304307] | uncertain significance | 3 | 49111773 | 49111773 | Human | | name |
| 617152365 | CV4020736 | single nucleotide variant | NM_001256852.1(USP17L10):c.423T>C (p.His141=) | not provided [RCV005427993] | likely benign | 4 | 9211079 | 9211079 | Human | | name |
| 15126908 | CV708923 | single nucleotide variant | NM_001199161.2(USP19):c.2519G>A (p.Arg840His) | not provided [RCV000963818] | likely benign | 3 | 49112616 | 49112616 | Human | | name |
| 15098801 | CV729610 | single nucleotide variant | NM_001371072.1(USP11):c.1939G>A (p.Val647Ile) | not provided [RCV000885367] | benign | X | 47244777 | 47244777 | Human | | name |
| 40815906 | CV970553 | single nucleotide variant | NM_001371072.1(USP11):c.2420G>A (p.Arg807Gln) | not provided [RCV001262015] | uncertain significance | X | 47247221 | 47247221 | Human | | name |
| 156378768 | CV2207801 | single nucleotide variant | NM_001242330.1(USP17L27):c.239C>A (p.Ala80Asp) | not specified [RCV004084236] | uncertain significance | 4 | 9344386 | 9344386 | Human | | name |
| 155928210 | CV2218584 | single nucleotide variant | NM_001242330.1(USP17L27):c.212G>C (p.Ser71Thr) | not specified [RCV004090849] | uncertain significance | 4 | 9344359 | 9344359 | Human | | name |
| 155926584 | CV2230644 | single nucleotide variant | NM_001242330.1(USP17L27):c.211A>G (p.Ser71Gly) | not specified [RCV004097596] | uncertain significance | 4 | 9344358 | 9344358 | Human | | name |
| 156291999 | CV2296742 | single nucleotide variant | NM_001199161.2(USP19):c.3470G>A (p.Arg1157Gln) | not specified [RCV004148647] | uncertain significance | 3 | 49111025 | 49111025 | Human | | name |
| 156207425 | CV2307937 | single nucleotide variant | NM_001199161.2(USP19):c.3089C>A (p.Pro1030His) | not specified [RCV004170383] | uncertain significance | 3 | 49111628 | 49111628 | Human | | name |
| 156241806 | CV2310283 | single nucleotide variant | NM_001199161.2(USP19):c.3628C>T (p.Leu1210Phe) | not specified [RCV004157027] | uncertain significance | 3 | 49110781 | 49110781 | Human | | name |
| 156054275 | CV2320448 | single nucleotide variant | NM_001199161.2(USP19):c.3202G>T (p.Val1068Leu) | not specified [RCV004172090] | uncertain significance | 3 | 49111515 | 49111515 | Human | | name |
| 156173868 | CV2333750 | single nucleotide variant | NM_001242330.1(USP17L27):c.236G>A (p.Gly79Glu) | not specified [RCV004181261] | uncertain significance | 4 | 9344383 | 9344383 | Human | | name |
| 155916816 | CV2336212 | single nucleotide variant | NM_001242330.1(USP17L27):c.181C>A (p.Gln61Lys) | not specified [RCV004191968] | uncertain significance | 4 | 9344328 | 9344328 | Human | | name |
| 155976220 | CV2338572 | single nucleotide variant | NM_001242330.1(USP17L27):c.185T>A (p.Leu62His) | not specified [RCV004182166] | uncertain significance | 4 | 9344332 | 9344332 | Human | | name |
| 156331741 | CV2339683 | single nucleotide variant | NM_001242329.1(USP17L5):c.761G>C (p.Cys254Ser) | not specified [RCV004196387] | uncertain significance | 4 | 9340163 | 9340163 | Human | | name |
| 155920485 | CV2343358 | single nucleotide variant | NM_001199161.2(USP19):c.3112C>T (p.Arg1038Trp) | not specified [RCV004194972] | uncertain significance | 3 | 49111605 | 49111605 | Human | | name |
| 155904777 | CV2349576 | single nucleotide variant | NM_001242328.1(USP17L26):c.109C>T (p.Leu37Phe) | not specified [RCV004204003] | uncertain significance | 4 | 9334766 | 9334766 | Human | | name |
| 156171735 | CV2355015 | single nucleotide variant | NM_001242330.1(USP17L27):c.203T>C (p.Leu68Pro) | not specified [RCV004198415] | uncertain significance | 4 | 9344350 | 9344350 | Human | | name |
| 156051108 | CV2367686 | single nucleotide variant | NM_001199161.2(USP19):c.3113G>A (p.Arg1038Gln) | not specified [RCV004211604] | uncertain significance | 3 | 49111604 | 49111604 | Human | | name |
| 156338754 | CV2370758 | single nucleotide variant | NM_001242329.1(USP17L5):c.605G>T (p.Arg202Ile) | not specified [RCV004209156] | uncertain significance | 4 | 9340007 | 9340007 | Human | | name |
| 156268428 | CV2372034 | single nucleotide variant | NM_001242330.1(USP17L27):c.230C>T (p.Ala77Val) | not specified [RCV004221705] | uncertain significance | 4 | 9344377 | 9344377 | Human | | name |
| 156084847 | CV2382030 | single nucleotide variant | NM_001199161.2(USP19):c.3893C>T (p.Thr1298Met) | not specified [RCV004225952] | uncertain significance | 3 | 49110329 | 49110329 | Human | | name |
| 155908105 | CV2387221 | single nucleotide variant | NM_001199161.2(USP19):c.3116G>T (p.Gly1039Val) | not specified [RCV004238319] | uncertain significance | 3 | 49111601 | 49111601 | Human | | name |
| 156064129 | CV2389447 | single nucleotide variant | NM_001199161.2(USP19):c.3209G>A (p.Arg1070Gln) | not specified [RCV004238173] | uncertain significance | 3 | 49111508 | 49111508 | Human | | name |
| 329369514 | CV2424844 | single nucleotide variant | NM_001199161.2(USP19):c.3253A>T (p.Met1085Leu) | not specified [RCV004248729] | uncertain significance | 3 | 49111330 | 49111330 | Human | | name |
| 329382972 | CV2434416 | single nucleotide variant | NM_001242330.1(USP17L27):c.255G>A (p.Met85Ile) | not specified [RCV004254130] | uncertain significance | 4 | 9344402 | 9344402 | Human | | name |
| 329400281 | CV2437563 | single nucleotide variant | NM_001199161.2(USP19):c.3457G>A (p.Gly1153Ser) | not specified [RCV004258846] | uncertain significance | 3 | 49111038 | 49111038 | Human | | name |
| 329399848 | CV2444284 | single nucleotide variant | NM_001242330.1(USP17L27):c.252T>G (p.Asn84Lys) | not specified [RCV004263050] | uncertain significance | 4 | 9344399 | 9344399 | Human | | name |
| 329354412 | CV2448131 | single nucleotide variant | NM_001199161.2(USP19):c.3949C>T (p.Arg1317Trp) | not specified [RCV004263351] | uncertain significance | 3 | 49110273 | 49110273 | Human | | name |
| 401733381 | CV2685510 | single nucleotide variant | NM_001199161.2(USP19):c.3487C>G (p.Leu1163Val) | not specified [RCV004294530] | uncertain significance | 3 | 49111008 | 49111008 | Human | | name |
| 401748119 | CV2700007 | single nucleotide variant | NM_001199161.2(USP19):c.3563A>G (p.Lys1188Arg) | not specified [RCV004310436] | uncertain significance | 3 | 49110846 | 49110846 | Human | | name |
| 401739247 | CV2708386 | single nucleotide variant | NM_001199161.2(USP19):c.4000C>T (p.Pro1334Ser) | not specified [RCV004313501] | uncertain significance | 3 | 49110222 | 49110222 | Human | | name |
| 401874874 | CV2756108 | single nucleotide variant | NM_001242330.1(USP17L27):c.202C>T (p.Leu68Phe) | not specified [RCV004338222] | uncertain significance | 4 | 9344349 | 9344349 | Human | | name |
| 401866583 | CV2776252 | single nucleotide variant | NM_001199161.2(USP19):c.3742C>A (p.Gln1248Lys) | not specified [RCV004353620] | uncertain significance | 3 | 49110561 | 49110561 | Human | | name |
| 401909177 | CV2820841 | single nucleotide variant | NM_001256873.1(USP17L1):c.797C>T (p.Thr266Met) | not provided [RCV003423894] | likely benign | 8 | 7333183 | 7333183 | Human | | name |
| 401909178 | CV2820842 | single nucleotide variant | NM_001256873.1(USP17L1):c.905A>T (p.Asp302Val) | not provided [RCV003423895] | likely benign | 8 | 7333291 | 7333291 | Human | | name |
| 401925726 | CV2820904 | single nucleotide variant | NM_001256869.2(USP17L7):c.380C>T (p.Thr127Ile) | not provided [RCV003436746] | likely benign | 8 | 12133630 | 12133630 | Human | | name |
| 405814726 | CV3341654 | single nucleotide variant | NM_001242330.1(USP17L27):c.101G>A (p.Arg34Gln) | not specified [RCV004484540] | uncertain significance | 4 | 9344248 | 9344248 | Human | | name |
| 405814730 | CV3341656 | single nucleotide variant | NM_001242330.1(USP17L27):c.119A>T (p.Lys40Met) | not specified [RCV004484542] | uncertain significance | 4 | 9344266 | 9344266 | Human | | name |
| 405814745 | CV3341664 | single nucleotide variant | NM_001242330.1(USP17L27):c.176C>G (p.Ala59Gly) | not specified [RCV004484550] | uncertain significance | 4 | 9344323 | 9344323 | Human | | name |
| 405814747 | CV3341665 | single nucleotide variant | NM_001242330.1(USP17L27):c.194G>A (p.Arg65Lys) | not specified [RCV004484551] | uncertain significance | 4 | 9344341 | 9344341 | Human | | name |
| 405814749 | CV3341666 | single nucleotide variant | NM_001242330.1(USP17L27):c.223C>T (p.Pro75Ser) | not specified [RCV004484552] | uncertain significance | 4 | 9344370 | 9344370 | Human | | name |
| 405814754 | CV3341669 | single nucleotide variant | NM_001242330.1(USP17L27):c.254T>C (p.Met85Thr) | not specified [RCV004484555] | uncertain significance | 4 | 9344401 | 9344401 | Human | | name |
| 405814782 | CV3341684 | single nucleotide variant | NM_001242329.1(USP17L5):c.769T>G (p.Cys257Gly) | not specified [RCV004484570] | uncertain significance | 4 | 9340171 | 9340171 | Human | | name |
| 405814784 | CV3341685 | single nucleotide variant | NM_001242329.1(USP17L5):c.785C>T (p.Pro262Leu) | not specified [RCV004484571] | uncertain significance | 4 | 9340187 | 9340187 | Human | | name |
| 405663826 | CV3341705 | single nucleotide variant | NM_001199161.2(USP19):c.3349G>T (p.Gly1117Cys) | not specified [RCV004484591] | uncertain significance | 3 | 49111146 | 49111146 | Human | | name |
| 405663822 | CV3341706 | single nucleotide variant | NM_001199161.2(USP19):c.3392G>A (p.Arg1131His) | not specified [RCV004484592] | uncertain significance | 3 | 49111103 | 49111103 | Human | | name |
| 407451950 | CV3487432 | single nucleotide variant | NM_001242330.1(USP17L27):c.142C>T (p.Arg48Cys) | not specified [RCV004685444] | uncertain significance | 4 | 9344289 | 9344289 | Human | | name |
| 407451953 | CV3487433 | single nucleotide variant | NM_001242330.1(USP17L27):c.280T>G (p.Ser94Ala) | not specified [RCV004685445] | uncertain significance | 4 | 9344427 | 9344427 | Human | | name |
| 407455169 | CV3487453 | single nucleotide variant | NM_001199161.2(USP19):c.3494A>T (p.Gln1165Leu) | not specified [RCV004685463] | uncertain significance | 3 | 49111001 | 49111001 | Human | | name |
| 407462613 | CV3487456 | single nucleotide variant | NM_001199161.2(USP19):c.3256A>G (p.Asn1086Asp) | not specified [RCV004688020] | uncertain significance | 3 | 49111327 | 49111327 | Human | | name |
| 596948089 | CV3547684 | single nucleotide variant | NM_001256863.1(USP17L22):c.1053T>C (p.Asp351=) | not provided [RCV004811989] | likely benign | 4 | 9268671 | 9268671 | Human | | name |
| 597798423 | CV3626168 | single nucleotide variant | NM_001199161.2(USP19):c.3901G>A (p.Glu1301Lys) | not specified [RCV004879188] | uncertain significance | 3 | 49110321 | 49110321 | Human | | name |
| 597798429 | CV3626174 | single nucleotide variant | NM_001199161.2(USP19):c.3851G>C (p.Ser1284Thr) | not specified [RCV004879191] | uncertain significance | 3 | 49110452 | 49110452 | Human | | name |
| 597798433 | CV3626180 | single nucleotide variant | NM_001199161.2(USP19):c.3098G>C (p.Trp1033Ser) | not specified [RCV004879193] | uncertain significance | 3 | 49111619 | 49111619 | Human | | name |
| 597798435 | CV3626182 | single nucleotide variant | NM_001199161.2(USP19):c.3347T>C (p.Leu1116Pro) | not specified [RCV004879194] | uncertain significance | 3 | 49111148 | 49111148 | Human | | name |
| 597722671 | CV3626184 | single nucleotide variant | NM_001199161.2(USP19):c.4030G>A (p.Ala1344Thr) | not specified [RCV004888045] | uncertain significance | 3 | 49110192 | 49110192 | Human | | name |
| 598275157 | CV3936477 | single nucleotide variant | NM_001242330.1(USP17L27):c.268T>A (p.Tyr90Asn) | not specified [RCV005304291] | uncertain significance | 4 | 9344415 | 9344415 | Human | | name |
| 598275158 | CV3936480 | single nucleotide variant | NM_001242330.1(USP17L27):c.202C>A (p.Leu68Ile) | not specified [RCV005304292] | uncertain significance | 4 | 9344349 | 9344349 | Human | | name |
| 598275159 | CV3936482 | single nucleotide variant | NM_001242330.1(USP17L27):c.140C>T (p.Thr47Ile) | not specified [RCV005304293] | uncertain significance | 4 | 9344287 | 9344287 | Human | | name |
| 598275165 | CV3936492 | single nucleotide variant | NM_001199161.2(USP19):c.3091C>T (p.Arg1031Trp) | not specified [RCV005304299] | uncertain significance | 3 | 49111626 | 49111626 | Human | | name |
| 598203651 | CV3936496 | single nucleotide variant | NM_001199161.2(USP19):c.3170T>C (p.Ile1057Thr) | not specified [RCV005290569] | likely benign | 3 | 49111547 | 49111547 | Human | | name |
| 598275167 | CV3936498 | single nucleotide variant | NM_001199161.2(USP19):c.3305G>A (p.Arg1102Gln) | not specified [RCV005304301] | uncertain significance | 3 | 49111278 | 49111278 | Human | | name |
| 598275171 | CV3936504 | single nucleotide variant | NM_001199161.2(USP19):c.3064A>G (p.Met1022Val) | not specified [RCV005304305] | likely benign | 3 | 49111653 | 49111653 | Human | | name |
| 598203684 | CV3936508 | single nucleotide variant | NM_001199161.2(USP19):c.3537G>T (p.Glu1179Asp) | not specified [RCV005290574] | uncertain significance | 3 | 49110958 | 49110958 | Human | | name |
| 598203691 | CV3936510 | single nucleotide variant | NM_001199161.2(USP19):c.3139A>G (p.Ile1047Val) | not specified [RCV005290575] | likely benign | 3 | 49111578 | 49111578 | Human | | name |
| 156274258 | CV2202583 | single nucleotide variant | NM_001242330.1(USP17L27):c.478G>T (p.Asp160Tyr) | not specified [RCV004082846] | uncertain significance | 4 | 9344625 | 9344625 | Human | | name |
| 156029301 | CV2205975 | single nucleotide variant | NM_001242330.1(USP17L27):c.829A>T (p.Ile277Phe) | not specified [RCV004078399] | uncertain significance | 4 | 9344976 | 9344976 | Human | | name |
| 156021878 | CV2226912 | single nucleotide variant | NM_001242330.1(USP17L27):c.302C>A (p.Thr101Lys) | not specified [RCV004103883] | uncertain significance | 4 | 9344449 | 9344449 | Human | | name |
| 156117650 | CV2231928 | single nucleotide variant | NM_001242330.1(USP17L27):c.430C>G (p.Gln144Glu) | not specified [RCV004093000] | uncertain significance | 4 | 9344577 | 9344577 | Human | | name |
| 156332854 | CV2270395 | single nucleotide variant | NM_001242330.1(USP17L27):c.696T>A (p.Ser232Arg) | not specified [RCV004135588] | uncertain significance | 4 | 9344843 | 9344843 | Human | | name |
| 156000357 | CV2287372 | single nucleotide variant | NM_001242330.1(USP17L27):c.935C>T (p.Thr312Ile) | not specified [RCV004146985] | uncertain significance | 4 | 9345082 | 9345082 | Human | | name |
| 156362492 | CV2330215 | single nucleotide variant | NM_001242330.1(USP17L27):c.575T>A (p.Leu192His) | not specified [RCV004187674] | uncertain significance | 4 | 9344722 | 9344722 | Human | | name |
| 156064176 | CV2331068 | single nucleotide variant | NM_001242330.1(USP17L27):c.479A>G (p.Asp160Gly) | not specified [RCV004188101] | uncertain significance | 4 | 9344626 | 9344626 | Human | | name |
| 156178357 | CV2331309 | single nucleotide variant | NM_001242330.1(USP17L27):c.482C>T (p.Ala161Val) | not specified [RCV004183953] | uncertain significance | 4 | 9344629 | 9344629 | Human | | name |
| 156204356 | CV2331658 | single nucleotide variant | NM_001242330.1(USP17L27):c.355C>T (p.Arg119Cys) | not specified [RCV004184288] | uncertain significance | 4 | 9344502 | 9344502 | Human | | name |
| 156050337 | CV2336587 | single nucleotide variant | NM_001242330.1(USP17L27):c.695G>C (p.Ser232Thr) | not specified [RCV004196835] | uncertain significance | 4 | 9344842 | 9344842 | Human | | name |
| 156347228 | CV2349545 | single nucleotide variant | NM_001242330.1(USP17L27):c.522G>T (p.Lys174Asn) | not specified [RCV004203977] | uncertain significance | 4 | 9344669 | 9344669 | Human | | name |
| 156227403 | CV2352829 | single nucleotide variant | NM_001242330.1(USP17L27):c.536G>C (p.Gly179Ala) | not specified [RCV004198836] | uncertain significance | 4 | 9344683 | 9344683 | Human | | name |
| 156345829 | CV2356384 | single nucleotide variant | NM_001242330.1(USP17L27):c.677A>G (p.Asp226Gly) | not specified [RCV004206187] | uncertain significance | 4 | 9344824 | 9344824 | Human | | name |
| 156384847 | CV2371621 | single nucleotide variant | NM_001242330.1(USP17L27):c.769T>G (p.Cys257Gly) | not specified [RCV004216866] | uncertain significance | 4 | 9344916 | 9344916 | Human | | name |
| 156388063 | CV2383577 | single nucleotide variant | NM_001242330.1(USP17L27):c.779G>A (p.Arg260Lys) | not specified [RCV004224446] | likely benign | 4 | 9344926 | 9344926 | Human | | name |
| 329382124 | CV2424338 | single nucleotide variant | NM_001242330.1(USP17L27):c.826C>G (p.Leu276Val) | not specified [RCV004252243] | uncertain significance | 4 | 9344973 | 9344973 | Human | | name |
| 329373322 | CV2447191 | single nucleotide variant | NM_001242330.1(USP17L27):c.755A>T (p.Tyr252Phe) | not specified [RCV004262494] | uncertain significance | 4 | 9344902 | 9344902 | Human | | name |
| 329392074 | CV2470351 | single nucleotide variant | NM_001242330.1(USP17L27):c.907A>T (p.Met303Leu) | not specified [RCV004279738] | uncertain significance | 4 | 9345054 | 9345054 | Human | | name |
| 401746506 | CV2694871 | single nucleotide variant | NM_001242330.1(USP17L27):c.497T>C (p.Met166Thr) | not specified [RCV004300942] | uncertain significance | 4 | 9344644 | 9344644 | Human | | name |
| 401778947 | CV2701906 | single nucleotide variant | NM_001242330.1(USP17L27):c.937G>A (p.Gly313Arg) | not specified [RCV004320522] | uncertain significance | 4 | 9345084 | 9345084 | Human | | name |
| 401734352 | CV2709467 | single nucleotide variant | NM_001242330.1(USP17L27):c.863G>A (p.Gly288Asp) | not specified [RCV004318714] | uncertain significance | 4 | 9345010 | 9345010 | Human | | name |
| 401724985 | CV2715052 | single nucleotide variant | NM_001242330.1(USP17L27):c.318C>A (p.Asn106Lys) | not specified [RCV004322362] | uncertain significance | 4 | 9344465 | 9344465 | Human | | name |
| 401756845 | CV2729527 | single nucleotide variant | NM_001242330.1(USP17L27):c.535G>C (p.Gly179Arg) | not specified [RCV004333602] | uncertain significance | 4 | 9344682 | 9344682 | Human | | name |
| 401864416 | CV2760907 | single nucleotide variant | NM_001242330.1(USP17L27):c.904G>A (p.Asp302Asn) | not specified [RCV004336541] | uncertain significance | 4 | 9345051 | 9345051 | Human | | name |
| 401872388 | CV2793083 | single nucleotide variant | NM_001242330.1(USP17L27):c.434C>T (p.Pro145Leu) | not specified [RCV004360408] | uncertain significance | 4 | 9344581 | 9344581 | Human | | name |
| 401923872 | CV2820844 | single nucleotide variant | NM_001256873.1(USP17L1):c.1308C>G (p.His436Gln) | not provided [RCV003435421] | likely benign | 8 | 7333694 | 7333694 | Human | | name |
| 401909180 | CV2820846 | single nucleotide variant | NM_001256874.1(USP17L4):c.1303G>A (p.Asp435Asn) | not provided [RCV003423896] | likely benign | 8 | 7338417 | 7338417 | Human | | name |
| 405814756 | CV3341670 | single nucleotide variant | NM_001242330.1(USP17L27):c.319T>G (p.Tyr107Asp) | not specified [RCV004484556] | uncertain significance | 4 | 9344466 | 9344466 | Human | | name |
| 405814758 | CV3341671 | single nucleotide variant | NM_001242330.1(USP17L27):c.368G>A (p.Cys123Tyr) | not specified [RCV004484557] | uncertain significance | 4 | 9344515 | 9344515 | Human | | name |
| 405814760 | CV3341672 | single nucleotide variant | NM_001242330.1(USP17L27):c.404C>A (p.Ala135Asp) | not specified [RCV004484558] | uncertain significance | 4 | 9344551 | 9344551 | Human | | name |
| 405814762 | CV3341673 | single nucleotide variant | NM_001242330.1(USP17L27):c.431A>T (p.Gln144Leu) | not specified [RCV004484559] | uncertain significance | 4 | 9344578 | 9344578 | Human | | name |
| 405814765 | CV3341675 | single nucleotide variant | NM_001242330.1(USP17L27):c.466G>T (p.Gly156Cys) | not specified [RCV004484561] | uncertain significance | 4 | 9344613 | 9344613 | Human | | name |
| 405814767 | CV3341676 | single nucleotide variant | NM_001242330.1(USP17L27):c.474G>C (p.Gln158His) | not specified [RCV004484562] | uncertain significance | 4 | 9344621 | 9344621 | Human | | name |
| 405814769 | CV3341677 | single nucleotide variant | NM_001242330.1(USP17L27):c.586A>G (p.Ile196Val) | not specified [RCV004484563] | uncertain significance | 4 | 9344733 | 9344733 | Human | | name |
| 405814771 | CV3341678 | single nucleotide variant | NM_001242330.1(USP17L27):c.797C>T (p.Thr266Met) | not specified [RCV004484564] | uncertain significance | 4 | 9344944 | 9344944 | Human | | name |
| 405814775 | CV3341680 | single nucleotide variant | NM_001242330.1(USP17L27):c.840G>T (p.Leu280Phe) | not specified [RCV004484566] | uncertain significance | 4 | 9344987 | 9344987 | Human | | name |
| 405814779 | CV3341682 | single nucleotide variant | NM_001242330.1(USP17L27):c.993C>G (p.His331Gln) | not specified [RCV004484568] | uncertain significance | 4 | 9345140 | 9345140 | Human | | name |
| 407451947 | CV3487431 | single nucleotide variant | NM_001242330.1(USP17L27):c.688G>T (p.Ala230Ser) | not specified [RCV004685443] | uncertain significance | 4 | 9344835 | 9344835 | Human | | name |
| 407451956 | CV3487434 | single nucleotide variant | NM_001242330.1(USP17L27):c.558C>G (p.His186Gln) | not specified [RCV004685446] | uncertain significance | 4 | 9344705 | 9344705 | Human | | name |
| 597691247 | CV3626139 | single nucleotide variant | NM_001242330.1(USP17L27):c.547G>C (p.Val183Leu) | not specified [RCV004879174] | uncertain significance | 4 | 9344694 | 9344694 | Human | | name |
| 597691238 | CV3626141 | single nucleotide variant | NM_001242330.1(USP17L27):c.892C>A (p.Pro298Thr) | not specified [RCV004879175] | uncertain significance | 4 | 9345039 | 9345039 | Human | | name |
| 597691226 | CV3626142 | single nucleotide variant | NM_001242330.1(USP17L27):c.634G>A (p.Gly212Ser) | not specified [RCV004879176] | uncertain significance | 4 | 9344781 | 9344781 | Human | | name |
| 597690815 | CV3626143 | single nucleotide variant | NM_001242330.1(USP17L27):c.541A>C (p.Lys181Gln) | not specified [RCV004888033] | uncertain significance | 4 | 9344688 | 9344688 | Human | | name |
| 597691216 | CV3626144 | single nucleotide variant | NM_001242330.1(USP17L27):c.485A>G (p.His162Arg) | not specified [RCV004879177] | uncertain significance | 4 | 9344632 | 9344632 | Human | | name |
| 597690825 | CV3626147 | single nucleotide variant | NM_001242330.1(USP17L27):c.380C>T (p.Thr127Ile) | not specified [RCV004888034] | uncertain significance | 4 | 9344527 | 9344527 | Human | | name |
| 597691190 | CV3626149 | single nucleotide variant | NM_001242330.1(USP17L27):c.757C>A (p.His253Asn) | not specified [RCV004879180] | uncertain significance | 4 | 9344904 | 9344904 | Human | | name |
| 597691180 | CV3626150 | single nucleotide variant | NM_001242330.1(USP17L27):c.432G>C (p.Gln144His) | not specified [RCV004879181] | uncertain significance | 4 | 9344579 | 9344579 | Human | | name |
| 597690846 | CV3626153 | single nucleotide variant | NM_001242330.1(USP17L27):c.853G>A (p.Asp285Asn) | not specified [RCV004888036] | uncertain significance | 4 | 9345000 | 9345000 | Human | | name |
| 598275155 | CV3936473 | single nucleotide variant | NM_001242330.1(USP17L27):c.896A>C (p.Glu299Ala) | not specified [RCV005304289] | uncertain significance | 4 | 9345043 | 9345043 | Human | | name |
| 598203600 | CV3936479 | single nucleotide variant | NM_001242330.1(USP17L27):c.421C>T (p.His141Tyr) | not specified [RCV005290560] | uncertain significance | 4 | 9344568 | 9344568 | Human | | name |
| 598203606 | CV3936481 | single nucleotide variant | NM_001242330.1(USP17L27):c.892C>T (p.Pro298Ser) | not specified [RCV005290561] | uncertain significance | 4 | 9345039 | 9345039 | Human | | name |
| 598275160 | CV3936483 | single nucleotide variant | NM_001242330.1(USP17L27):c.832C>G (p.Leu278Val) | not specified [RCV005304294] | uncertain significance | 4 | 9344979 | 9344979 | Human | | name |
| 156400016 | CV2198908 | single nucleotide variant | NM_001242330.1(USP17L27):c.1273G>T (p.Val425Leu) | not specified [RCV004078286] | uncertain significance | 4 | 9345420 | 9345420 | Human | | name |
| 156377221 | CV2206998 | single nucleotide variant | NM_001242330.1(USP17L27):c.1475C>T (p.Ser492Leu) | not specified [RCV004085618] | uncertain significance | 4 | 9345622 | 9345622 | Human | | name |
| 156143488 | CV2296304 | single nucleotide variant | NM_001242330.1(USP17L27):c.1417T>G (p.Cys473Gly) | not specified [RCV004154203] | uncertain significance | 4 | 9345564 | 9345564 | Human | | name |
| 156203119 | CV2300700 | single nucleotide variant | NM_001242330.1(USP17L27):c.1246C>A (p.Gln416Lys) | not specified [RCV004155640] | uncertain significance | 4 | 9345393 | 9345393 | Human | | name |
| 156161869 | CV2311772 | single nucleotide variant | NM_001242330.1(USP17L27):c.1228A>G (p.Arg410Gly) | not specified [RCV004170632] | uncertain significance | 4 | 9345375 | 9345375 | Human | | name |
| 156181989 | CV2327864 | single nucleotide variant | NM_001242330.1(USP17L27):c.1267C>T (p.His423Tyr) | not specified [RCV004179194] | uncertain significance | 4 | 9345414 | 9345414 | Human | | name |
| 156346283 | CV2353494 | single nucleotide variant | NM_001242330.1(USP17L27):c.1357A>G (p.Arg453Gly) | not specified [RCV004199480] | uncertain significance | 4 | 9345504 | 9345504 | Human | | name |
| 155928682 | CV2369544 | single nucleotide variant | NM_001242330.1(USP17L27):c.1211C>T (p.Thr404Met) | not specified [RCV004214965] | uncertain significance | 4 | 9345358 | 9345358 | Human | | name |
| 156173861 | CV2377132 | single nucleotide variant | NM_001242330.1(USP17L27):c.1533G>C (p.Arg511Ser) | not specified [RCV004231810] | uncertain significance | 4 | 9345680 | 9345680 | Human | | name |
| 329383483 | CV2425001 | single nucleotide variant | NM_001242330.1(USP17L27):c.1241G>T (p.Cys414Phe) | not specified [RCV004250660] | uncertain significance | 4 | 9345388 | 9345388 | Human | | name |
| 329366807 | CV2441901 | single nucleotide variant | NM_001242330.1(USP17L27):c.1516G>A (p.Ala506Thr) | not specified [RCV004262084] | uncertain significance | 4 | 9345663 | 9345663 | Human | | name |
| 329368541 | CV2450355 | single nucleotide variant | NM_001242330.1(USP17L27):c.1262A>G (p.Asp421Gly) | not specified [RCV004271431] | uncertain significance | 4 | 9345409 | 9345409 | Human | | name |
| 329395687 | CV2454465 | single nucleotide variant | NM_001242330.1(USP17L27):c.1508G>A (p.Gly503Asp) | not specified [RCV004267967] | uncertain significance | 4 | 9345655 | 9345655 | Human | | name |
| 329399027 | CV2471857 | single nucleotide variant | NM_001242330.1(USP17L27):c.1373C>A (p.Thr458Asn) | not specified [RCV004280890] | uncertain significance | 4 | 9345520 | 9345520 | Human | | name |
| 329376565 | CV2472192 | single nucleotide variant | NM_001242330.1(USP17L27):c.1451G>T (p.Ser484Ile) | not specified [RCV004283312] | uncertain significance | 4 | 9345598 | 9345598 | Human | | name |
| 401724284 | CV2714783 | single nucleotide variant | NM_001242330.1(USP17L27):c.1015G>A (p.Val339Ile) | not specified [RCV004320345] | uncertain significance | 4 | 9345162 | 9345162 | Human | | name |
| 405814728 | CV3341655 | single nucleotide variant | NM_001242330.1(USP17L27):c.1087C>A (p.Leu363Met) | not specified [RCV004484541] | uncertain significance | 4 | 9345234 | 9345234 | Human | | name |
| 405814736 | CV3341659 | single nucleotide variant | NM_001242330.1(USP17L27):c.1250C>A (p.Ala417Asp) | not specified [RCV004484545] | uncertain significance | 4 | 9345397 | 9345397 | Human | | name |
| 405814738 | CV3341660 | single nucleotide variant | NM_001242330.1(USP17L27):c.1318C>T (p.Leu440Phe) | not specified [RCV004484546] | uncertain significance | 4 | 9345465 | 9345465 | Human | | name |
| 405814741 | CV3341662 | single nucleotide variant | NM_001242330.1(USP17L27):c.1481C>A (p.Pro494Gln) | not specified [RCV004484548] | uncertain significance | 4 | 9345628 | 9345628 | Human | | name |
| 405814743 | CV3341663 | single nucleotide variant | NM_001242330.1(USP17L27):c.1549G>A (p.Gly517Arg) | not specified [RCV004484549] | uncertain significance | 4 | 9345696 | 9345696 | Human | | name |
| 597691268 | CV3626135 | single nucleotide variant | NM_001242330.1(USP17L27):c.1006T>C (p.Phe336Leu) | not specified [RCV004879172] | uncertain significance | 4 | 9345153 | 9345153 | Human | | name |
| 597691258 | CV3626138 | single nucleotide variant | NM_001242330.1(USP17L27):c.1353C>A (p.Asn451Lys) | not specified [RCV004879173] | uncertain significance | 4 | 9345500 | 9345500 | Human | | name |
| 597690805 | CV3626140 | single nucleotide variant | NM_001242330.1(USP17L27):c.1478C>T (p.Thr493Ile) | not specified [RCV004888032] | uncertain significance | 4 | 9345625 | 9345625 | Human | | name |
| 597691205 | CV3626145 | single nucleotide variant | NM_001242330.1(USP17L27):c.1300T>G (p.Leu434Val) | not specified [RCV004879178] | uncertain significance | 4 | 9345447 | 9345447 | Human | | name |
| 597691200 | CV3626148 | single nucleotide variant | NM_001242330.1(USP17L27):c.1295G>C (p.Ser432Thr) | not specified [RCV004879179] | uncertain significance | 4 | 9345442 | 9345442 | Human | | name |
| 597690835 | CV3626151 | single nucleotide variant | NM_001242330.1(USP17L27):c.1087C>G (p.Leu363Val) | not specified [RCV004888035] | uncertain significance | 4 | 9345234 | 9345234 | Human | | name |
| 597691171 | CV3626152 | single nucleotide variant | NM_001242330.1(USP17L27):c.1471T>A (p.Ser491Thr) | not specified [RCV004879182] | uncertain significance | 4 | 9345618 | 9345618 | Human | | name |
| 597691153 | CV3626155 | single nucleotide variant | NM_001242330.1(USP17L27):c.1528G>T (p.Gly510Trp) | not specified [RCV004879184] | uncertain significance | 4 | 9345675 | 9345675 | Human | | name |
| 597691143 | CV3626157 | single nucleotide variant | NM_001242330.1(USP17L27):c.1397T>C (p.Ile466Thr) | not specified [RCV004879186] | uncertain significance | 4 | 9345544 | 9345544 | Human | | name |
| 598203594 | CV3936478 | single nucleotide variant | NM_001242330.1(USP17L27):c.1236C>A (p.His412Gln) | not specified [RCV005290559] | uncertain significance | 4 | 9345383 | 9345383 | Human | | name |