| 150442034 | CV1264367 | single nucleotide variant | NM_030912.3(TRIM8):c.-40A>T | not provided [RCV001679350] | benign | 10 | 102644578 | 102644578 | Human | | name |
| 401907738 | CV2809581 | single nucleotide variant | NM_030912.3(TRIM8):c.667-5C>T | not provided [RCV003422842] | likely benign | 10 | 102655075 | 102655075 | Human | | name |
| 405202084 | CV2918814 | single nucleotide variant | NM_030912.3(TRIM8):c.570+7A>G | not provided [RCV003566043] | likely benign | 10 | 102645194 | 102645194 | Human | | name |
| 405125925 | CV3021259 | single nucleotide variant | NM_030912.3(TRIM8):c.667-4G>A | not provided [RCV003701162] | likely benign | 10 | 102655076 | 102655076 | Human | | name |
| 402468224 | CV3174193 | single nucleotide variant | NM_030912.3(TRIM8):c.667-7C>T | not provided [RCV003873476] | likely benign | 10 | 102655073 | 102655073 | Human | | name |
| 596930970 | CV3529812 | single nucleotide variant | NM_030912.3(TRIM8):c.570+2C>A | not provided [RCV004780862] | uncertain significance | 10 | 102645189 | 102645189 | Human | | name |
| 152153042 | CV1610112 | single nucleotide variant | NM_030912.3(TRIM8):c.932+10G>A | not provided [RCV002179749] | likely benign | 10 | 102656147 | 102656147 | Human | | name |
| 152142893 | CV1651397 | single nucleotide variant | NM_030912.3(TRIM8):c.901-13C>T | not provided [RCV002138400] | likely benign | 10 | 102656093 | 102656093 | Human | | name |
| 155942286 | CV1868988 | single nucleotide variant | NM_030912.3(TRIM8):c.1048+3G>A | not provided [RCV003073622] | benign | 10 | 102656388 | 102656388 | Human | | name |
| 156332248 | CV1954185 | single nucleotide variant | NM_030912.3(TRIM8):c.570+20G>A | not provided [RCV002580064] | likely benign | 10 | 102645207 | 102645207 | Human | | name |
| 156208722 | CV1959511 | single nucleotide variant | NM_030912.3(TRIM8):c.933-16C>T | not provided [RCV002575069] | benign | 10 | 102656254 | 102656254 | Human | | name |
| 156411052 | CV1976060 | single nucleotide variant | NM_030912.3(TRIM8):c.933-15G>A | not provided [RCV002587366] | likely benign | 10 | 102656255 | 102656255 | Human | | name |
| 156392572 | CV1986422 | single nucleotide variant | NM_030912.3(TRIM8):c.666+12C>T | not provided [RCV002604807] | likely benign | 10 | 102654760 | 102654760 | Human | | name |
| 156195703 | CV1994905 | single nucleotide variant | NM_030912.3(TRIM8):c.667-19C>T | not provided [RCV002643459] | likely benign | 10 | 102655061 | 102655061 | Human | | name |
| 156117585 | CV1995768 | single nucleotide variant | NM_030912.3(TRIM8):c.570+17C>T | not provided [RCV002640182] | likely benign | 10 | 102645204 | 102645204 | Human | | name |
| 155906101 | CV2027596 | single nucleotide variant | NM_030912.3(TRIM8):c.666+18C>T | not provided [RCV002726479] | likely benign | 10 | 102654766 | 102654766 | Human | | name |
| 156108165 | CV2058098 | single nucleotide variant | NM_030912.3(TRIM8):c.901-16T>C | not provided [RCV002824815] | likely benign | 10 | 102656090 | 102656090 | Human | | name |
| 156376129 | CV2124130 | single nucleotide variant | NM_030912.3(TRIM8):c.900+10G>A | not provided [RCV002942730] | likely benign | 10 | 102655323 | 102655323 | Human | | name |
| 156143844 | CV2163990 | single nucleotide variant | NM_030912.3(TRIM8):c.901-19T>C | not provided [RCV003022617] | likely benign | 10 | 102656087 | 102656087 | Human | | name |
| 402479995 | CV2863911 | single nucleotide variant | NM_030912.3(TRIM8):c.933-13C>G | not provided [RCV003543918] | likely benign | 10 | 102656257 | 102656257 | Human | | name |
| 405020113 | CV2866195 | single nucleotide variant | NM_030912.3(TRIM8):c.1049-3C>G | not provided [RCV003577460] | uncertain significance | 10 | 102656744 | 102656744 | Human | | name |
| 405138285 | CV3130782 | single nucleotide variant | NM_030912.3(TRIM8):c.900+16G>A | not provided [RCV003839016] | likely benign | 10 | 102655329 | 102655329 | Human | | name |
| 597973934 | CV3801642 | single nucleotide variant | NM_030912.3(TRIM8):c.933-20G>T | not provided [RCV005143631] | likely benign | 10 | 102656250 | 102656250 | Human | | name |
| 597876907 | CV3813291 | single nucleotide variant | NM_030912.3(TRIM8):c.932+14C>T | not provided [RCV005149227] | likely benign | 10 | 102656151 | 102656151 | Human | | name |
| 597848070 | CV3824090 | single nucleotide variant | NM_030912.3(TRIM8):c.570+12A>G | not provided [RCV005173329] | likely benign | 10 | 102645199 | 102645199 | Human | | name |
| 597974917 | CV3832118 | single nucleotide variant | NM_030912.3(TRIM8):c.570+10C>T | not provided [RCV005168854] | likely benign | 10 | 102645197 | 102645197 | Human | | name |
| 152084966 | CV1645133 | single nucleotide variant | NM_030912.3(TRIM8):c.1048+18C>T | not provided [RCV002131312] | likely benign | 10 | 102656403 | 102656403 | Human | | name |
| 156232326 | CV2173106 | single nucleotide variant | NM_030912.3(TRIM8):c.1049-10C>T | not provided [RCV003059354] | likely benign | 10 | 102656737 | 102656737 | Human | | name |
| 405241981 | CV2970963 | single nucleotide variant | NM_030912.3(TRIM8):c.1048+14G>A | not provided [RCV003684249] | likely benign | 10 | 102656399 | 102656399 | Human | | name |
| 597930115 | CV3789256 | single nucleotide variant | NM_030912.3(TRIM8):c.1049-18T>C | not provided [RCV005131537] | likely benign | 10 | 102656729 | 102656729 | Human | | name |
| 152075103 | CV1616616 | microsatellite | NM_030912.3(TRIM8):c.570+13CG[7] | not provided [RCV002210488] | benign | 10 | 102645199 | 102645200 | Human | | name |
| 152118267 | CV1620140 | microsatellite | NM_030912.3(TRIM8):c.570+13CG[8] | not provided [RCV002216432] | benign | 10 | 102645199 | 102645200 | Human | | name |
| 597854058 | CV3821620 | microsatellite | NM_030912.3(TRIM8):c.570+13CG[9] | not provided [RCV005174098] | likely benign | 10 | 102645199 | 102645200 | Human | | name |
| 597954707 | CV3809315 | single nucleotide variant | NM_030912.3(TRIM8):c.9G>A (p.Glu3=) | not provided [RCV005162039] | likely benign | 10 | 102644626 | 102644626 | Human | | name |
| 150552826 | CV1307308 | single nucleotide variant | NM_030912.3(TRIM8):c.1A>G (p.Met1Val) | not provided [RCV001768420] | uncertain significance | 10 | 102644618 | 102644618 | Human | | name |
| 152091538 | CV1616288 | single nucleotide variant | NM_030912.3(TRIM8):c.45C>T (p.Cys15=) | not provided [RCV002114143] | benign | 10 | 102644662 | 102644662 | Human | | name |
| 152089991 | CV1634094 | deletion | NM_030912.3(TRIM8):c.901-15_901-14del | not provided [RCV002194171] | benign | 10 | 102656089 | 102656090 | Human | | name |
| 155971696 | CV2062514 | single nucleotide variant | NM_030912.3(TRIM8):c.69G>T (p.Val23=) | not provided [RCV002842109] | likely benign | 10 | 102644686 | 102644686 | Human | | name |
| 402519496 | CV2946128 | single nucleotide variant | NM_030912.3(TRIM8):c.90C>T (p.Cys30=) | not provided [RCV003663138] | likely benign | 10 | 102644707 | 102644707 | Human | | name |
| 405142487 | CV3155424 | single nucleotide variant | NM_030912.3(TRIM8):c.54C>T (p.Cys18=) | not provided [RCV003855662] | likely benign | 10 | 102644671 | 102644671 | Human | | name |
| 597889946 | CV3804905 | single nucleotide variant | NM_030912.3(TRIM8):c.57G>C (p.Leu19=) | not provided [RCV005151167] | likely benign | 10 | 102644674 | 102644674 | Human | | name |
| 151235704 | CV1318649 | single nucleotide variant | NM_030912.3(TRIM8):c.270G>A (p.Leu90=) | not provided [RCV001796920]|not specified [RCV001794979] | benign|likely benign | 10 | 102644887 | 102644887 | Human | | name |
| 152154064 | CV1643585 | single nucleotide variant | NM_030912.3(TRIM8):c.267G>A (p.Ala89=) | not provided [RCV002122165] | likely benign | 10 | 102644884 | 102644884 | Human | | name |
| 156103834 | CV1917076 | single nucleotide variant | NM_030912.3(TRIM8):c.189G>C (p.Pro63=) | not provided [RCV002592374] | likely benign | 10 | 102644806 | 102644806 | Human | | name |
| 156438470 | CV1947076 | single nucleotide variant | NM_030912.3(TRIM8):c.23G>T (p.Cys8Phe) | not provided [RCV003108414] | likely benign | 10 | 102644640 | 102644640 | Human | | name |
| 156328013 | CV1982381 | single nucleotide variant | NM_030912.3(TRIM8):c.189G>A (p.Pro63=) | not provided [RCV002649664] | likely benign | 10 | 102644806 | 102644806 | Human | | name |
| 156320590 | CV2025319 | single nucleotide variant | NM_030912.3(TRIM8):c.243G>C (p.Leu81=) | not provided [RCV002717062] | likely benign | 10 | 102644860 | 102644860 | Human | | name |
| 155915993 | CV2033535 | single nucleotide variant | NM_030912.3(TRIM8):c.180C>T (p.Asn60=) | not provided [RCV002750470] | likely benign | 10 | 102644797 | 102644797 | Human | | name |
| 156284983 | CV2067668 | single nucleotide variant | NM_030912.3(TRIM8):c.231G>A (p.Lys77=) | not provided [RCV002856520] | likely benign | 10 | 102644848 | 102644848 | Human | | name |
| 156117925 | CV2111265 | single nucleotide variant | NM_030912.3(TRIM8):c.210G>A (p.Lys70=) | not provided [RCV002914042] | likely benign | 10 | 102644827 | 102644827 | Human | | name |
| 156211528 | CV2141996 | single nucleotide variant | NM_030912.3(TRIM8):c.120C>T (p.Gly40=) | not provided [RCV002985611] | likely benign | 10 | 102644737 | 102644737 | Human | | name |
| 405115546 | CV2951485 | single nucleotide variant | NM_030912.3(TRIM8):c.246C>T (p.His82=) | not provided [RCV003670842] | likely benign | 10 | 102644863 | 102644863 | Human | | name |
| 405210237 | CV2970544 | single nucleotide variant | NM_030912.3(TRIM8):c.147C>T (p.Leu49=) | not provided [RCV003679293] | likely benign | 10 | 102644764 | 102644764 | Human | | name |
| 151352246 | CV1322332 | single nucleotide variant | NM_030912.3(TRIM8):c.35A>C (p.Glu12Ala) | not provided [RCV001806955] | uncertain significance | 10 | 102644652 | 102644652 | Human | | name |
| 152101324 | CV1546950 | single nucleotide variant | NM_030912.3(TRIM8):c.954C>T (p.Ser318=) | not provided [RCV002151849] | benign | 10 | 102656291 | 102656291 | Human | | name |
| 152118107 | CV1602421 | single nucleotide variant | NM_030912.3(TRIM8):c.42C>G (p.Ile14Met) | Inborn genetic diseases [RCV004046289]|TRIM8-related disorder [RCV003903380]|not provided [RCV002117473] | likely benign | 10 | 102644659 | 102644659 | Human | 2 | name , trait , alternate_id |
| 156002877 | CV1869588 | single nucleotide variant | NM_030912.3(TRIM8):c.795C>T (p.Asn265=) | not provided [RCV003076678] | likely benign | 10 | 102655208 | 102655208 | Human | | name |
| 156411917 | CV1894072 | single nucleotide variant | NM_030912.3(TRIM8):c.753G>A (p.Val251=) | not provided [RCV003072682] | likely benign | 10 | 102655166 | 102655166 | Human | | name |
| 156100066 | CV1907027 | single nucleotide variant | NM_030912.3(TRIM8):c.807G>A (p.Ala269=) | not provided [RCV003080567] | benign | 10 | 102655220 | 102655220 | Human | | name |
| 156407943 | CV1911388 | single nucleotide variant | NM_030912.3(TRIM8):c.789C>T (p.Ser263=) | not provided [RCV002607060] | likely benign | 10 | 102655202 | 102655202 | Human | | name |
| 156059707 | CV1915552 | single nucleotide variant | NM_030912.3(TRIM8):c.876G>A (p.Lys292=) | not provided [RCV002620906] | likely benign | 10 | 102655289 | 102655289 | Human | | name |
| 156404236 | CV1916489 | single nucleotide variant | NM_030912.3(TRIM8):c.849G>A (p.Leu283=) | not provided [RCV002606053] | likely benign | 10 | 102655262 | 102655262 | Human | | name |
| 156356224 | CV1917545 | single nucleotide variant | NM_030912.3(TRIM8):c.903C>T (p.Asn301=) | not provided [RCV002632354] | likely benign | 10 | 102656108 | 102656108 | Human | | name |
| 156434302 | CV1946929 | single nucleotide variant | NM_030912.3(TRIM8):c.339C>G (p.Pro113=) | not provided [RCV003104383] | likely benign | 10 | 102644956 | 102644956 | Human | | name |
| 156434303 | CV1946930 | single nucleotide variant | NM_030912.3(TRIM8):c.459C>G (p.Leu153=) | not provided [RCV003104384] | likely benign | 10 | 102645076 | 102645076 | Human | | name |
| 156092978 | CV1960044 | single nucleotide variant | NM_030912.3(TRIM8):c.60C>A (p.His20Gln) | not provided [RCV002570291] | uncertain significance | 10 | 102644677 | 102644677 | Human | | name |
| 156282470 | CV1968008 | single nucleotide variant | NM_030912.3(TRIM8):c.435C>T (p.Cys145=) | not provided [RCV002598441] | likely benign | 10 | 102645052 | 102645052 | Human | | name |
| 156329742 | CV1969869 | single nucleotide variant | NM_030912.3(TRIM8):c.966C>T (p.Pro322=) | not provided [RCV002600729] | likely benign | 10 | 102656303 | 102656303 | Human | | name |
| 155987698 | CV1979693 | single nucleotide variant | NM_030912.3(TRIM8):c.468C>T (p.Cys156=) | not provided [RCV002617882] | likely benign | 10 | 102645085 | 102645085 | Human | | name |
| 156161797 | CV1981292 | single nucleotide variant | NM_030912.3(TRIM8):c.642C>T (p.Leu214=) | not provided [RCV002642435] | likely benign | 10 | 102654724 | 102654724 | Human | | name |
| 156206351 | CV1990517 | single nucleotide variant | NM_030912.3(TRIM8):c.966C>A (p.Pro322=) | not provided [RCV002625914] | likely benign | 10 | 102656303 | 102656303 | Human | | name |
| 156329627 | CV1992629 | single nucleotide variant | NM_030912.3(TRIM8):c.94C>G (p.His32Asp) | not provided [RCV002649748] | uncertain significance | 10 | 102644711 | 102644711 | Human | | name |
| 156393833 | CV2002557 | single nucleotide variant | NM_030912.3(TRIM8):c.471G>A (p.Glu157=) | not provided [RCV002681034] | likely benign | 10 | 102645088 | 102645088 | Human | | name |
| 156118777 | CV2015828 | single nucleotide variant | NM_030912.3(TRIM8):c.993G>A (p.Lys331=) | not provided [RCV002695954] | likely benign | 10 | 102656330 | 102656330 | Human | | name |
| 155949214 | CV2017734 | single nucleotide variant | NM_030912.3(TRIM8):c.813C>T (p.His271=) | not provided [RCV002685923] | likely benign | 10 | 102655226 | 102655226 | Human | | name |
| 155956930 | CV2040194 | single nucleotide variant | NM_030912.3(TRIM8):c.816C>T (p.Leu272=) | not provided [RCV002776065] | likely benign | 10 | 102655229 | 102655229 | Human | | name |
| 156233223 | CV2048843 | single nucleotide variant | NM_030912.3(TRIM8):c.759C>G (p.Val253=) | not provided [RCV002791076] | benign | 10 | 102655172 | 102655172 | Human | | name |
| 156120285 | CV2052282 | single nucleotide variant | NM_030912.3(TRIM8):c.912T>C (p.Ser304=) | not provided [RCV002825271] | likely benign | 10 | 102656117 | 102656117 | Human | | name |
| 155970026 | CV2062409 | single nucleotide variant | NM_030912.3(TRIM8):c.981C>T (p.His327=) | not provided [RCV002842034] | likely benign | 10 | 102656318 | 102656318 | Human | | name |
| 155969266 | CV2066235 | single nucleotide variant | NM_030912.3(TRIM8):c.74C>T (p.Pro25Leu) | not provided [RCV002842001] | uncertain significance | 10 | 102644691 | 102644691 | Human | | name |
| 155971154 | CV2079227 | single nucleotide variant | NM_030912.3(TRIM8):c.975C>T (p.Ile325=) | not provided [RCV002881493] | likely benign | 10 | 102656312 | 102656312 | Human | | name |
| 156265139 | CV2100891 | single nucleotide variant | NM_030912.3(TRIM8):c.942C>T (p.Thr314=) | not provided [RCV002877410] | likely benign | 10 | 102656279 | 102656279 | Human | | name |
| 156015617 | CV2121368 | single nucleotide variant | NM_030912.3(TRIM8):c.984G>A (p.Leu328=) | TRIM8-related disorder [RCV003943624]|not provided [RCV002948516] | benign|likely benign | 10 | 102656321 | 102656321 | Human | 1 | name , trait , alternate_id |
| 156387500 | CV2122116 | single nucleotide variant | NM_030912.3(TRIM8):c.801G>A (p.Ala267=) | not provided [RCV002943599] | likely benign | 10 | 102655214 | 102655214 | Human | | name |
| 156308992 | CV2123294 | single nucleotide variant | NM_030912.3(TRIM8):c.708C>T (p.Tyr236=) | not provided [RCV002962509] | likely benign | 10 | 102655121 | 102655121 | Human | | name |
| 155932282 | CV2129232 | single nucleotide variant | NM_030912.3(TRIM8):c.333G>A (p.Glu111=) | TRIM8-related disorder [RCV003916668]|not provided [RCV002970697] | benign|likely benign | 10 | 102644950 | 102644950 | Human | 1 | name , trait , alternate_id |
| 156113600 | CV2136303 | single nucleotide variant | NM_030912.3(TRIM8):c.732C>T (p.Asp244=) | not provided [RCV003002695] | likely benign | 10 | 102655145 | 102655145 | Human | | name |
| 155935306 | CV2138754 | single nucleotide variant | NM_030912.3(TRIM8):c.369G>A (p.Leu123=) | not provided [RCV002993674] | likely benign | 10 | 102644986 | 102644986 | Human | | name |
| 405230902 | CV2899810 | single nucleotide variant | NM_030912.3(TRIM8):c.36G>C (p.Glu12Asp) | not provided [RCV003555496] | uncertain significance | 10 | 102644653 | 102644653 | Human | | name |
| 405075708 | CV2940760 | single nucleotide variant | NM_030912.3(TRIM8):c.822G>A (p.Glu274=) | not provided [RCV003659688] | likely benign | 10 | 102655235 | 102655235 | Human | | name |
| 405087398 | CV2943304 | single nucleotide variant | NM_030912.3(TRIM8):c.450C>T (p.Ala150=) | not provided [RCV003665045] | likely benign | 10 | 102645067 | 102645067 | Human | | name |
| 405128713 | CV2957309 | single nucleotide variant | NM_030912.3(TRIM8):c.603G>A (p.Glu201=) | not provided [RCV003672212] | likely benign | 10 | 102654685 | 102654685 | Human | | name |
| 405057905 | CV3019698 | single nucleotide variant | NM_030912.3(TRIM8):c.486C>A (p.Ala162=) | not provided [RCV003697472] | likely benign | 10 | 102645103 | 102645103 | Human | | name |
| 405090599 | CV3021739 | single nucleotide variant | NM_030912.3(TRIM8):c.32A>T (p.Glu11Val) | not provided [RCV003699708] | uncertain significance | 10 | 102644649 | 102644649 | Human | | name |
| 405219009 | CV3049158 | single nucleotide variant | NM_030912.3(TRIM8):c.531C>T (p.His177=) | not provided [RCV003732974] | likely benign | 10 | 102645148 | 102645148 | Human | | name |
| 405041505 | CV3064014 | single nucleotide variant | NM_030912.3(TRIM8):c.996C>T (p.Leu332=) | not provided [RCV003739932] | likely benign | 10 | 102656333 | 102656333 | Human | | name |
| 405155071 | CV3068730 | single nucleotide variant | NM_030912.3(TRIM8):c.417C>T (p.Asp139=) | not provided [RCV003726618] | likely benign | 10 | 102645034 | 102645034 | Human | | name |
| 405154020 | CV3068731 | single nucleotide variant | NM_030912.3(TRIM8):c.519G>C (p.Ala173=) | not provided [RCV003726619] | likely benign | 10 | 102645136 | 102645136 | Human | | name |
| 405009159 | CV3118362 | single nucleotide variant | NM_030912.3(TRIM8):c.357G>A (p.Val119=) | TRIM8-related disorder [RCV003893453]|not provided [RCV003828792] | likely benign | 10 | 102644974 | 102644974 | Human | 1 | name , trait , alternate_id |
| 405109569 | CV3136789 | single nucleotide variant | NM_030912.3(TRIM8):c.426C>T (p.Ala142=) | not provided [RCV003835943] | likely benign | 10 | 102645043 | 102645043 | Human | | name |
| 405053232 | CV3151312 | single nucleotide variant | NM_030912.3(TRIM8):c.546G>A (p.Val182=) | not provided [RCV003849721] | likely benign | 10 | 102645163 | 102645163 | Human | | name |
| 405183275 | CV3159715 | single nucleotide variant | NM_030912.3(TRIM8):c.528A>T (p.Gly176=) | not provided [RCV003858966] | likely benign | 10 | 102645145 | 102645145 | Human | | name |
| 405134812 | CV3163937 | single nucleotide variant | NM_030912.3(TRIM8):c.354C>T (p.His118=) | not provided [RCV003854925] | likely benign | 10 | 102644971 | 102644971 | Human | | name |
| 404980775 | CV3183414 | single nucleotide variant | NM_030912.3(TRIM8):c.768G>A (p.Lys256=) | not provided [RCV003880437] | likely benign | 10 | 102655181 | 102655181 | Human | | name |
| 408387307 | CV3518801 | single nucleotide variant | NM_030912.3(TRIM8):c.50T>C (p.Ile17Thr) | not provided [RCV004761120] | uncertain significance | 10 | 102644667 | 102644667 | Human | | name |
| 597918874 | CV3737895 | single nucleotide variant | NM_030912.3(TRIM8):c.301C>T (p.Leu101=) | not provided [RCV005074494] | likely benign | 10 | 102644918 | 102644918 | Human | | name |
| 597950222 | CV3759658 | single nucleotide variant | NM_030912.3(TRIM8):c.315G>A (p.Lys105=) | not provided [RCV005079258] | likely benign | 10 | 102644932 | 102644932 | Human | | name |
| 597939932 | CV3785235 | single nucleotide variant | NM_030912.3(TRIM8):c.633G>A (p.Leu211=) | not provided [RCV005133340] | likely benign | 10 | 102654715 | 102654715 | Human | | name |
| 597967462 | CV3794516 | single nucleotide variant | NM_030912.3(TRIM8):c.936C>G (p.Thr312=) | not provided [RCV005140692] | likely benign | 10 | 102656273 | 102656273 | Human | | name |
| 597899513 | CV3796435 | single nucleotide variant | NM_030912.3(TRIM8):c.462C>T (p.Tyr154=) | not provided [RCV005152518] | likely benign | 10 | 102645079 | 102645079 | Human | | name |
| 597879273 | CV3813802 | single nucleotide variant | NM_030912.3(TRIM8):c.648A>C (p.Ser216=) | not provided [RCV005149544] | likely benign | 10 | 102654730 | 102654730 | Human | | name |
| 597916004 | CV3845712 | single nucleotide variant | NM_030912.3(TRIM8):c.771C>G (p.Ala257=) | not provided [RCV005183507] | likely benign | 10 | 102655184 | 102655184 | Human | | name |
| 150550667 | CV1308342 | single nucleotide variant | NM_030912.3(TRIM8):c.154T>A (p.Cys52Ser) | not provided [RCV001753333] | uncertain significance | 10 | 102644771 | 102644771 | Human | | name |
| 150532214 | CV1308451 | duplication | NM_030912.3(TRIM8):c.299dup (p.Leu101fs) | not provided [RCV001757495] | uncertain significance | 10 | 102644910 | 102644911 | Human | | name |
| 151769127 | CV1388064 | single nucleotide variant | NM_030912.3(TRIM8):c.1104C>T (p.Gly368=) | not provided [RCV001971006] | likely benign|uncertain significance | 10 | 102656802 | 102656802 | Human | | name |
| 151797753 | CV1512917 | single nucleotide variant | NM_030912.3(TRIM8):c.190G>T (p.Gly64Cys) | Inborn genetic diseases [RCV002545817]|not provided [RCV001866843] | likely benign|uncertain significance | 10 | 102644807 | 102644807 | Human | 1 | name |
| 152072839 | CV1551707 | single nucleotide variant | NM_030912.3(TRIM8):c.1551C>A (p.Pro517=) | TRIM8-related disorder [RCV003911323]|not provided [RCV002075334] | benign|likely benign | 10 | 102657249 | 102657249 | Human | 1 | name , trait , alternate_id |
| 152075636 | CV1616747 | single nucleotide variant | NM_030912.3(TRIM8):c.1578C>T (p.Asp526=) | not provided [RCV002210554] | likely benign | 10 | 102657276 | 102657276 | Human | | name |
| 152116194 | CV1643008 | single nucleotide variant | NM_030912.3(TRIM8):c.1350C>T (p.Ser450=) | not provided [RCV002216164] | likely benign | 10 | 102657048 | 102657048 | Human | | name |
| 152167930 | CV1644928 | single nucleotide variant | NM_030912.3(TRIM8):c.1494C>T (p.Pro498=) | not provided [RCV002142283] | likely benign | 10 | 102657192 | 102657192 | Human | | name |
| 156077636 | CV1886531 | single nucleotide variant | NM_030912.3(TRIM8):c.1065G>A (p.Pro355=) | not provided [RCV003079758] | likely benign|uncertain significance | 10 | 102656763 | 102656763 | Human | | name |
| 156306708 | CV1912607 | single nucleotide variant | NM_030912.3(TRIM8):c.1593C>T (p.Pro531=) | TRIM8-related disorder [RCV004754929]|not provided [RCV002599435] | likely benign | 10 | 102657291 | 102657291 | Human | 1 | name , trait , alternate_id |
| 156103864 | CV1917077 | single nucleotide variant | NM_030912.3(TRIM8):c.1446C>T (p.Gly482=) | not provided [RCV002592375] | likely benign | 10 | 102657144 | 102657144 | Human | | name |
| 156443799 | CV1941062 | single nucleotide variant | NM_030912.3(TRIM8):c.1431C>G (p.Ser477=) | not provided [RCV003114708] | likely benign | 10 | 102657129 | 102657129 | Human | | name |
| 156442750 | CV1948857 | single nucleotide variant | NM_030912.3(TRIM8):c.1173G>A (p.Thr391=) | not provided [RCV003113102] | likely benign | 10 | 102656871 | 102656871 | Human | | name |
| 156181863 | CV1953529 | single nucleotide variant | NM_030912.3(TRIM8):c.1539C>T (p.Pro513=) | not provided [RCV002574140] | likely benign | 10 | 102657237 | 102657237 | Human | | name |
| 156335185 | CV1954390 | single nucleotide variant | NM_030912.3(TRIM8):c.1353C>T (p.Ala451=) | not provided [RCV002580211] | likely benign | 10 | 102657051 | 102657051 | Human | | name |
| 156414808 | CV1955002 | single nucleotide variant | NM_030912.3(TRIM8):c.1143G>A (p.Thr381=) | not provided [RCV002588818] | likely benign | 10 | 102656841 | 102656841 | Human | | name |
| 156115269 | CV1958221 | single nucleotide variant | NM_030912.3(TRIM8):c.260C>T (p.Pro87Leu) | not provided [RCV002592921] | uncertain significance | 10 | 102644877 | 102644877 | Human | | name |
| 156417658 | CV1967097 | single nucleotide variant | NM_030912.3(TRIM8):c.110G>T (p.Gly37Val) | not provided [RCV002590302] | likely benign | 10 | 102644727 | 102644727 | Human | | name |
| 156417660 | CV1967098 | single nucleotide variant | NM_030912.3(TRIM8):c.1644C>T (p.Tyr548=) | not provided [RCV002590303] | likely benign | 10 | 102657342 | 102657342 | Human | | name |
| 156325330 | CV1985224 | single nucleotide variant | NM_030912.3(TRIM8):c.1521G>A (p.Pro507=) | not provided [RCV002649520] | likely benign | 10 | 102657219 | 102657219 | Human | | name |
| 156012680 | CV1988333 | single nucleotide variant | NM_030912.3(TRIM8):c.1287G>A (p.Pro429=) | not provided [RCV002618984] | likely benign | 10 | 102656985 | 102656985 | Human | | name |
| 156117490 | CV1994037 | single nucleotide variant | NM_030912.3(TRIM8):c.1530C>T (p.Pro510=) | not provided [RCV002662723] | likely benign | 10 | 102657228 | 102657228 | Human | | name |
| 156305853 | CV1999833 | single nucleotide variant | NM_030912.3(TRIM8):c.1551C>T (p.Pro517=) | not provided [RCV002671379] | likely benign | 10 | 102657249 | 102657249 | Human | | name |
| 156107782 | CV2002111 | single nucleotide variant | NM_030912.3(TRIM8):c.1371C>A (p.Leu457=) | not provided [RCV002639820] | likely benign | 10 | 102657069 | 102657069 | Human | | name |
| 156146510 | CV2003002 | single nucleotide variant | NM_030912.3(TRIM8):c.1506C>T (p.Tyr502=) | not provided [RCV002663756] | likely benign | 10 | 102657204 | 102657204 | Human | | name |
| 156055026 | CV2003261 | single nucleotide variant | NM_030912.3(TRIM8):c.244C>T (p.His82Tyr) | not provided [RCV002659492] | likely benign|uncertain significance | 10 | 102644861 | 102644861 | Human | | name |
| 156356919 | CV2006610 | single nucleotide variant | NM_030912.3(TRIM8):c.184A>C (p.Lys62Gln) | Inborn genetic diseases [RCV003167619]|not provided [RCV002675989] | uncertain significance | 10 | 102644801 | 102644801 | Human | 1 | name |
| 156321874 | CV2022152 | single nucleotide variant | NM_030912.3(TRIM8):c.269T>C (p.Leu90Pro) | not provided [RCV002717146] | likely benign|uncertain significance | 10 | 102644886 | 102644886 | Human | | name |
| 156323308 | CV2022338 | single nucleotide variant | NM_030912.3(TRIM8):c.1371C>T (p.Leu457=) | not provided [RCV002717238] | likely benign | 10 | 102657069 | 102657069 | Human | | name |
| 156256700 | CV2025966 | single nucleotide variant | NM_030912.3(TRIM8):c.1560G>A (p.Ala520=) | not provided [RCV002746170] | likely benign | 10 | 102657258 | 102657258 | Human | | name |
| 155931823 | CV2035101 | single nucleotide variant | NM_030912.3(TRIM8):c.238G>A (p.Ala80Thr) | Inborn genetic diseases [RCV002751199]|not provided [RCV002780395] | likely benign|uncertain significance | 10 | 102644855 | 102644855 | Human | 1 | name |
| 156126231 | CV2036331 | single nucleotide variant | NM_030912.3(TRIM8):c.1122G>A (p.Ala374=) | not provided [RCV002785988] | likely benign | 10 | 102656820 | 102656820 | Human | | name |
| 156002661 | CV2103428 | single nucleotide variant | NM_030912.3(TRIM8):c.257C>T (p.Pro86Leu) | not provided [RCV002908709] | likely benign|uncertain significance | 10 | 102644874 | 102644874 | Human | | name |
| 156323776 | CV2108379 | single nucleotide variant | NM_030912.3(TRIM8):c.1251G>A (p.Gly417=) | not provided [RCV002937941] | likely benign | 10 | 102656949 | 102656949 | Human | | name |
| 156337560 | CV2110294 | single nucleotide variant | NM_030912.3(TRIM8):c.1497G>C (p.Ser499=) | TRIM8-related disorder [RCV003936426]|not provided [RCV002938719] | likely benign | 10 | 102657195 | 102657195 | Human | 1 | name , trait , alternate_id |
| 156224898 | CV2115307 | single nucleotide variant | NM_030912.3(TRIM8):c.1101C>T (p.Cys367=) | not provided [RCV002932600] | likely benign | 10 | 102656799 | 102656799 | Human | | name |
| 156006017 | CV2126575 | single nucleotide variant | NM_030912.3(TRIM8):c.256C>G (p.Pro86Ala) | not provided [RCV002975405] | likely benign|uncertain significance | 10 | 102644873 | 102644873 | Human | | name |
| 156219149 | CV2132748 | single nucleotide variant | NM_030912.3(TRIM8):c.246C>G (p.His82Gln) | not provided [RCV003007308] | likely benign|uncertain significance | 10 | 102644863 | 102644863 | Human | | name |
| 155981269 | CV2140457 | single nucleotide variant | NM_030912.3(TRIM8):c.238G>T (p.Ala80Ser) | not provided [RCV002996111] | likely benign|uncertain significance | 10 | 102644855 | 102644855 | Human | | name |
| 156368338 | CV2177898 | single nucleotide variant | NM_030912.3(TRIM8):c.1596C>T (p.Gly532=) | not provided [RCV003049505] | likely benign | 10 | 102657294 | 102657294 | Human | | name |
| 156154709 | CV2209554 | single nucleotide variant | NM_030912.3(TRIM8):c.136G>A (p.Asp46Asn) | Inborn genetic diseases [RCV002697870] | uncertain significance | 10 | 102644753 | 102644753 | Human | 1 | name |
| 405119589 | CV2957557 | single nucleotide variant | NM_030912.3(TRIM8):c.1563C>G (p.Val521=) | not provided [RCV003667299] | likely benign | 10 | 102657261 | 102657261 | Human | | name |
| 405123933 | CV2961563 | single nucleotide variant | NM_030912.3(TRIM8):c.1392G>A (p.Lys464=) | not provided [RCV003667735] | likely benign | 10 | 102657090 | 102657090 | Human | | name |
| 405129359 | CV2962225 | single nucleotide variant | NM_030912.3(TRIM8):c.1185T>C (p.Pro395=) | not provided [RCV003668241] | likely benign | 10 | 102656883 | 102656883 | Human | | name |
| 405136968 | CV2963189 | single nucleotide variant | NM_030912.3(TRIM8):c.1167A>G (p.Leu389=) | not provided [RCV003668871] | likely benign | 10 | 102656865 | 102656865 | Human | | name |
| 405200421 | CV2978816 | single nucleotide variant | NM_030912.3(TRIM8):c.1089C>G (p.Pro363=) | not provided [RCV003678129] | uncertain significance | 10 | 102656787 | 102656787 | Human | | name |
| 402478315 | CV2980076 | single nucleotide variant | NM_030912.3(TRIM8):c.295C>T (p.Pro99Ser) | not provided [RCV003686243] | uncertain significance | 10 | 102644912 | 102644912 | Human | | name |
| 402487611 | CV2999240 | single nucleotide variant | NM_030912.3(TRIM8):c.1218C>T (p.Ala406=) | not provided [RCV003687220] | likely benign | 10 | 102656916 | 102656916 | Human | | name |
| 405207737 | CV3037034 | single nucleotide variant | NM_030912.3(TRIM8):c.1305G>A (p.Val435=) | not provided [RCV003708223] | likely benign | 10 | 102657003 | 102657003 | Human | | name |
| 405186493 | CV3040538 | single nucleotide variant | NM_030912.3(TRIM8):c.1282C>T (p.Leu428=) | not provided [RCV003706064] | likely benign | 10 | 102656980 | 102656980 | Human | | name |
| 405243375 | CV3044027 | single nucleotide variant | NM_030912.3(TRIM8):c.1179G>A (p.Ser393=) | not provided [RCV003719719] | likely benign | 10 | 102656877 | 102656877 | Human | | name |
| 405246458 | CV3048111 | single nucleotide variant | NM_030912.3(TRIM8):c.1209G>A (p.Ala403=) | not provided [RCV003720544] | likely benign | 10 | 102656907 | 102656907 | Human | | name |
| 405218561 | CV3049159 | single nucleotide variant | NM_030912.3(TRIM8):c.1200C>T (p.Tyr400=) | not provided [RCV003732975] | likely benign | 10 | 102656898 | 102656898 | Human | | name |
| 405251136 | CV3049681 | single nucleotide variant | NM_030912.3(TRIM8):c.1332G>T (p.Ser444=) | not provided [RCV003721817] | likely benign|uncertain significance | 10 | 102657030 | 102657030 | Human | | name |
| 405174325 | CV3052594 | single nucleotide variant | NM_030912.3(TRIM8):c.1062G>A (p.Thr354=) | not provided [RCV003728206] | likely benign | 10 | 102656760 | 102656760 | Human | | name |
| 405093901 | CV3054709 | single nucleotide variant | NM_030912.3(TRIM8):c.1042C>T (p.Leu348=) | not provided [RCV003717923] | likely benign | 10 | 102656379 | 102656379 | Human | | name |
| 405182800 | CV3057696 | single nucleotide variant | NM_030912.3(TRIM8):c.1014C>T (p.Ala338=) | not provided [RCV003728959] | likely benign | 10 | 102656351 | 102656351 | Human | | name |
| 405211153 | CV3059133 | single nucleotide variant | NM_030912.3(TRIM8):c.1518C>T (p.Leu506=) | not provided [RCV003732028] | likely benign | 10 | 102657216 | 102657216 | Human | | name |
| 405089051 | CV3118387 | single nucleotide variant | NM_030912.3(TRIM8):c.1191C>T (p.Gly397=) | not provided [RCV003811029] | likely benign | 10 | 102656889 | 102656889 | Human | | name |
| 404999805 | CV3120209 | single nucleotide variant | NM_030912.3(TRIM8):c.1383C>T (p.Gly461=) | not provided [RCV003827999] | likely benign | 10 | 102657081 | 102657081 | Human | | name |
| 405215011 | CV3124521 | single nucleotide variant | NM_030912.3(TRIM8):c.1470C>T (p.Ser490=) | not provided [RCV003823883] | likely benign | 10 | 102657168 | 102657168 | Human | | name |
| 405113618 | CV3133770 | single nucleotide variant | NM_030912.3(TRIM8):c.191G>C (p.Gly64Ala) | not provided [RCV003836564] | likely benign|uncertain significance | 10 | 102644808 | 102644808 | Human | | name |
| 405144142 | CV3141401 | single nucleotide variant | NM_030912.3(TRIM8):c.1341C>T (p.Pro447=) | not provided [RCV003839517] | likely benign | 10 | 102657039 | 102657039 | Human | | name |
| 405204274 | CV3144082 | single nucleotide variant | NM_030912.3(TRIM8):c.1275G>A (p.Leu425=) | not provided [RCV003844872] | likely benign | 10 | 102656973 | 102656973 | Human | | name |
| 405208614 | CV3145726 | single nucleotide variant | NM_030912.3(TRIM8):c.1071C>T (p.Pro357=) | not provided [RCV003845456] | benign | 10 | 102656769 | 102656769 | Human | | name |
| 405245772 | CV3161873 | single nucleotide variant | NM_030912.3(TRIM8):c.218A>G (p.Asn73Ser) | not provided [RCV003868586] | uncertain significance | 10 | 102644835 | 102644835 | Human | | name |
| 405087204 | CV3167442 | single nucleotide variant | NM_030912.3(TRIM8):c.1302A>G (p.Pro434=) | not provided [RCV003852024] | likely benign | 10 | 102657000 | 102657000 | Human | | name |
| 404992247 | CV3176315 | single nucleotide variant | NM_030912.3(TRIM8):c.1299A>G (p.Gln433=) | not provided [RCV003881747] | likely benign | 10 | 102656997 | 102656997 | Human | | name |
| 402491015 | CV3182454 | single nucleotide variant | NM_030912.3(TRIM8):c.1555C>T (p.Leu519=) | not provided [RCV003876941] | likely benign | 10 | 102657253 | 102657253 | Human | | name |
| 405797563 | CV3347299 | single nucleotide variant | NM_030912.3(TRIM8):c.119G>C (p.Gly40Ala) | Inborn genetic diseases [RCV004476224] | uncertain significance | 10 | 102644736 | 102644736 | Human | 1 | name |
| 407426855 | CV3411655 | single nucleotide variant | NM_030912.3(TRIM8):c.133A>G (p.Lys45Glu) | not provided [RCV004590833] | uncertain significance | 10 | 102644750 | 102644750 | Human | | name |
| 408383441 | CV3503817 | single nucleotide variant | NM_030912.3(TRIM8):c.1077G>T (p.Leu359=) | TRIM8-related disorder [RCV004730574] | likely benign | 10 | 102656775 | 102656775 | Human | | name , trait , alternate_id |
| 597965664 | CV3751419 | single nucleotide variant | NM_030912.3(TRIM8):c.1290C>T (p.Gly430=) | not provided [RCV005082788] | likely benign | 10 | 102656988 | 102656988 | Human | | name |
| 597832746 | CV3760291 | single nucleotide variant | NM_030912.3(TRIM8):c.1095C>T (p.Tyr365=) | not provided [RCV005085034] | likely benign | 10 | 102656793 | 102656793 | Human | | name |
| 597892342 | CV3763126 | single nucleotide variant | NM_030912.3(TRIM8):c.1620T>C (p.Tyr540=) | not provided [RCV005110898] | likely benign | 10 | 102657318 | 102657318 | Human | | name |
| 597884376 | CV3780590 | single nucleotide variant | NM_030912.3(TRIM8):c.1221C>T (p.Ser407=) | not provided [RCV005124718] | likely benign | 10 | 102656919 | 102656919 | Human | | name |
| 597948007 | CV3800849 | single nucleotide variant | NM_030912.3(TRIM8):c.152G>A (p.Arg51His) | not provided [RCV005135249] | likely benign | 10 | 102644769 | 102644769 | Human | | name |
| 597911328 | CV3826117 | single nucleotide variant | NM_030912.3(TRIM8):c.1533C>T (p.Ser511=) | not provided [RCV005182853] | likely benign | 10 | 102657231 | 102657231 | Human | | name |
| 597879735 | CV3826294 | single nucleotide variant | NM_030912.3(TRIM8):c.1515G>A (p.Pro505=) | not provided [RCV005177990] | likely benign | 10 | 102657213 | 102657213 | Human | | name |
| 597897488 | CV3834733 | single nucleotide variant | NM_030912.3(TRIM8):c.1629G>A (p.Pro543=) | not provided [RCV005180644] | likely benign | 10 | 102657327 | 102657327 | Human | | name |
| 597861651 | CV3850814 | single nucleotide variant | NM_030912.3(TRIM8):c.252G>T (p.Glu84Asp) | not provided [RCV005195947] | uncertain significance | 10 | 102644869 | 102644869 | Human | | name |
| 597926528 | CV3855379 | duplication | NM_030912.3(TRIM8):c.592dup (p.Asp198fs) | not provided [RCV005205978] | uncertain significance | 10 | 102654672 | 102654673 | Human | | name |
| 616935243 | CV4009406 | deletion | NM_030912.3(TRIM8):c.299del (p.Pro100fs) | not provided [RCV005402578] | uncertain significance | 10 | 102644911 | 102644911 | Human | | name |
| 150415811 | CV1182183 | deletion | NM_030912.3(TRIM8):c.1163del (p.Phe388fs) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549305]|Seizure [RCV001849527] | pathogenic|likely pathogenic | 10 | 102656859 | 102656859 | Human | 5 | name |
| 151826261 | CV1393996 | single nucleotide variant | NM_030912.3(TRIM8):c.631C>A (p.Leu211Met) | not provided [RCV002030362] | likely benign|uncertain significance | 10 | 102654713 | 102654713 | Human | | name |
| 152104854 | CV1609403 | single nucleotide variant | NM_030912.3(TRIM8):c.814C>T (p.Leu272Phe) | not provided [RCV002115809] | benign | 10 | 102655227 | 102655227 | Human | | name |
| 152098778 | CV1639967 | single nucleotide variant | NM_030912.3(TRIM8):c.412G>A (p.Asp138Asn) | TRIM8-related disorder [RCV003893229]|not provided [RCV002078707] | likely benign | 10 | 102645029 | 102645029 | Human | 1 | name , trait , alternate_id |
| 155265099 | CV1695473 | deletion | NM_030912.3(TRIM8):c.1062del (p.Pro355fs) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV002280036] | likely pathogenic | 10 | 102656760 | 102656760 | Human | 1 | name |
| 155731625 | CV1780988 | single nucleotide variant | NM_030912.3(TRIM8):c.487G>A (p.Val163Met) | not provided [RCV002308776] | uncertain significance | 10 | 102645104 | 102645104 | Human | | name |
| 155722173 | CV1781350 | single nucleotide variant | NM_030912.3(TRIM8):c.697C>T (p.Arg233Trp) | not provided [RCV002306426] | uncertain significance | 10 | 102655110 | 102655110 | Human | | name |
| 155798740 | CV1860776 | single nucleotide variant | NM_030912.3(TRIM8):c.553C>T (p.Arg185Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV002467419] | uncertain significance | 10 | 102645170 | 102645170 | Human | 1 | name |
| 156412318 | CV1890498 | deletion | NM_030912.3(TRIM8):c.1120del (p.Ala374fs) | not provided [RCV003072843] | likely pathogenic | 10 | 102656815 | 102656815 | Human | | name |
| 156404701 | CV1898373 | single nucleotide variant | NM_030912.3(TRIM8):c.595C>T (p.Arg199Trp) | not provided [RCV002585469] | likely benign|uncertain significance | 10 | 102654677 | 102654677 | Human | | name |
| 156206639 | CV1905964 | single nucleotide variant | NM_030912.3(TRIM8):c.824G>A (p.Arg275His) | Inborn genetic diseases [RCV003367990]|not provided [RCV003084426] | likely benign | 10 | 102655237 | 102655237 | Human | 1 | name |
| 156091283 | CV1984090 | single nucleotide variant | NM_030912.3(TRIM8):c.409G>A (p.Ala137Thr) | not provided [RCV002621868] | uncertain significance | 10 | 102645026 | 102645026 | Human | | name |
| 156037173 | CV2002701 | single nucleotide variant | NM_030912.3(TRIM8):c.958C>T (p.Leu320Phe) | not provided [RCV002658893] | likely benign|uncertain significance | 10 | 102656295 | 102656295 | Human | | name |
| 155958084 | CV2010583 | single nucleotide variant | NM_030912.3(TRIM8):c.680A>G (p.Gln227Arg) | not provided [RCV002686375] | uncertain significance | 10 | 102655093 | 102655093 | Human | | name |
| 155915781 | CV2022027 | single nucleotide variant | NM_030912.3(TRIM8):c.727C>G (p.Leu243Val) | Inborn genetic diseases [RCV004067753]|not provided [RCV002727122] | benign|uncertain significance | 10 | 102655140 | 102655140 | Human | 1 | name |
| 156119273 | CV2035787 | single nucleotide variant | NM_030912.3(TRIM8):c.386C>T (p.Ala129Val) | not provided [RCV002785724] | likely benign|uncertain significance | 10 | 102645003 | 102645003 | Human | | name |
| 155995797 | CV2064019 | single nucleotide variant | NM_030912.3(TRIM8):c.335C>G (p.Ala112Gly) | not provided [RCV002843174] | uncertain significance | 10 | 102644952 | 102644952 | Human | | name |
| 156308970 | CV2076142 | single nucleotide variant | NM_030912.3(TRIM8):c.765C>G (p.Asp255Glu) | not provided [RCV002857550] | uncertain significance | 10 | 102655178 | 102655178 | Human | | name |
| 156120353 | CV2077689 | single nucleotide variant | NM_030912.3(TRIM8):c.656G>T (p.Arg219Leu) | not provided [RCV002871236] | uncertain significance | 10 | 102654738 | 102654738 | Human | | name |
| 156306166 | CV2079803 | single nucleotide variant | NM_030912.3(TRIM8):c.685A>C (p.Lys229Gln) | not provided [RCV002857416] | uncertain significance | 10 | 102655098 | 102655098 | Human | | name |
| 156117227 | CV2081302 | single nucleotide variant | NM_030912.3(TRIM8):c.379T>G (p.Ser127Ala) | not provided [RCV002889417] | benign | 10 | 102644996 | 102644996 | Human | | name |
| 156006370 | CV2099763 | single nucleotide variant | NM_030912.3(TRIM8):c.800C>T (p.Ala267Val) | not provided [RCV002908875] | uncertain significance | 10 | 102655213 | 102655213 | Human | | name |
| 156030637 | CV2117390 | single nucleotide variant | NM_030912.3(TRIM8):c.484G>A (p.Ala162Thr) | not provided [RCV002923499] | uncertain significance | 10 | 102645101 | 102645101 | Human | | name |
| 156023682 | CV2128754 | single nucleotide variant | NM_030912.3(TRIM8):c.350C>T (p.Ser117Phe) | not provided [RCV002948897] | uncertain significance | 10 | 102644967 | 102644967 | Human | | name |
| 156095302 | CV2135763 | single nucleotide variant | NM_030912.3(TRIM8):c.743G>A (p.Arg248Gln) | Inborn genetic diseases [RCV004065242]|not provided [RCV003001996] | likely benign|uncertain significance | 10 | 102655156 | 102655156 | Human | 1 | name |
| 155934431 | CV2138622 | single nucleotide variant | NM_030912.3(TRIM8):c.596G>A (p.Arg199Gln) | not provided [RCV002993610] | likely benign|uncertain significance | 10 | 102654678 | 102654678 | Human | | name |
| 156036882 | CV2143251 | single nucleotide variant | NM_030912.3(TRIM8):c.478C>T (p.Gln160Ter) | not provided [RCV002999367] | uncertain significance | 10 | 102645095 | 102645095 | Human | | name |
| 156352743 | CV2157730 | single nucleotide variant | NM_030912.3(TRIM8):c.677A>G (p.Asn226Ser) | not provided [RCV003030999] | uncertain significance | 10 | 102655090 | 102655090 | Human | | name |
| 156226999 | CV2164750 | single nucleotide variant | NM_030912.3(TRIM8):c.354C>A (p.His118Gln) | not provided [RCV003042941] | uncertain significance | 10 | 102644971 | 102644971 | Human | | name |
| 156138619 | CV2186725 | single nucleotide variant | NM_030912.3(TRIM8):c.856C>G (p.Leu286Val) | not provided [RCV003056096] | uncertain significance | 10 | 102655269 | 102655269 | Human | | name |
| 156041968 | CV2187998 | single nucleotide variant | NM_030912.3(TRIM8):c.979C>A (p.His327Asn) | not provided [RCV003036603] | uncertain significance | 10 | 102656316 | 102656316 | Human | | name |
| 329349704 | CV2477168 | single nucleotide variant | NM_030912.3(TRIM8):c.353A>T (p.His118Leu) | not provided [RCV003221493] | uncertain significance | 10 | 102644970 | 102644970 | Human | | name |
| 329848656 | CV2523403 | single nucleotide variant | NM_030912.3(TRIM8):c.315G>T (p.Lys105Asn) | not provided [RCV003225417] | uncertain significance | 10 | 102644932 | 102644932 | Human | | name |
| 329848279 | CV2667898 | single nucleotide variant | NM_030912.3(TRIM8):c.830A>G (p.Gln277Arg) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV004725693]|not provided [RCV003229465] | likely benign|uncertain significance | 10 | 102655243 | 102655243 | Human | 1 | name |
| 401917555 | CV2795428 | deletion | NM_030912.3(TRIM8):c.1474del (p.His492fs) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV003389304] | likely pathogenic | 10 | 102657171 | 102657171 | Human | 1 | name |
| 401920080 | CV2796500 | single nucleotide variant | NM_030912.3(TRIM8):c.878C>A (p.Thr293Lys) | TRIM8-related disorder [RCV003402536] | uncertain significance | 10 | 102655291 | 102655291 | Human | | name , trait , alternate_id |
| 404999420 | CV2851302 | single nucleotide variant | NM_030912.3(TRIM8):c.823C>T (p.Arg275Cys) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV003493202] | uncertain significance | 10 | 102655236 | 102655236 | Human | 1 | name |
| 405176878 | CV2860986 | single nucleotide variant | NM_030912.3(TRIM8):c.674T>A (p.Val225Glu) | not provided [RCV003542836] | uncertain significance | 10 | 102655087 | 102655087 | Human | | name |
| 405018321 | CV2866029 | single nucleotide variant | NM_030912.3(TRIM8):c.312G>T (p.Gln104His) | not provided [RCV003577367] | uncertain significance | 10 | 102644929 | 102644929 | Human | | name |
| 405066949 | CV2875475 | single nucleotide variant | NM_030912.3(TRIM8):c.878C>T (p.Thr293Met) | not provided [RCV003548295] | uncertain significance | 10 | 102655291 | 102655291 | Human | | name |
| 405032825 | CV2922651 | single nucleotide variant | NM_030912.3(TRIM8):c.796G>T (p.Ala266Ser) | not provided [RCV003578487] | uncertain significance | 10 | 102655209 | 102655209 | Human | | name |
| 405058097 | CV2928905 | single nucleotide variant | NM_030912.3(TRIM8):c.422G>C (p.Arg141Pro) | not provided [RCV003580270] | uncertain significance | 10 | 102645039 | 102645039 | Human | | name |
| 405079489 | CV2945475 | single nucleotide variant | NM_030912.3(TRIM8):c.608G>A (p.Arg203Gln) | not provided [RCV003664482] | likely benign | 10 | 102654690 | 102654690 | Human | | name |
| 405180085 | CV2956185 | single nucleotide variant | NM_030912.3(TRIM8):c.964C>A (p.Pro322Thr) | not provided [RCV003676179] | likely benign | 10 | 102656301 | 102656301 | Human | | name |
| 405238473 | CV2970119 | single nucleotide variant | NM_030912.3(TRIM8):c.643G>A (p.Glu215Lys) | not provided [RCV003683439] | likely benign | 10 | 102654725 | 102654725 | Human | | name |
| 405213374 | CV2971282 | single nucleotide variant | NM_030912.3(TRIM8):c.547G>C (p.Glu183Gln) | not provided [RCV003679700] | uncertain significance | 10 | 102645164 | 102645164 | Human | | name |
| 402483106 | CV2997987 | single nucleotide variant | NM_030912.3(TRIM8):c.346C>T (p.Gln116Ter) | not provided [RCV003686778] | uncertain significance | 10 | 102644963 | 102644963 | Human | | name |
| 405248751 | CV3003798 | single nucleotide variant | NM_030912.3(TRIM8):c.544G>C (p.Val182Leu) | not provided [RCV003721191] | likely benign | 10 | 102645161 | 102645161 | Human | | name |
| 402522534 | CV3005182 | single nucleotide variant | NM_030912.3(TRIM8):c.527G>T (p.Gly176Val) | not provided [RCV003690409] | uncertain significance | 10 | 102645144 | 102645144 | Human | | name |
| 405066974 | CV3030870 | single nucleotide variant | NM_030912.3(TRIM8):c.448G>T (p.Ala150Ser) | not provided [RCV003698087] | likely benign | 10 | 102645065 | 102645065 | Human | | name |
| 405070828 | CV3034370 | single nucleotide variant | NM_030912.3(TRIM8):c.691G>A (p.Glu231Lys) | not provided [RCV003698311] | uncertain significance | 10 | 102655104 | 102655104 | Human | | name |
| 405174835 | CV3052615 | single nucleotide variant | NM_030912.3(TRIM8):c.415G>A (p.Asp139Asn) | not provided [RCV003728224] | uncertain significance | 10 | 102645032 | 102645032 | Human | | name |
| 405243506 | CV3071900 | single nucleotide variant | NM_030912.3(TRIM8):c.817G>A (p.Gly273Arg) | not provided [RCV003737815] | likely benign | 10 | 102655230 | 102655230 | Human | | name |
| 405186240 | CV3124353 | single nucleotide variant | NM_030912.3(TRIM8):c.742C>T (p.Arg248Trp) | not provided [RCV003820552] | uncertain significance | 10 | 102655155 | 102655155 | Human | | name |
| 405117664 | CV3130985 | single nucleotide variant | NM_030912.3(TRIM8):c.655C>T (p.Arg219Cys) | not provided [RCV003837041] | uncertain significance | 10 | 102654737 | 102654737 | Human | | name |
| 405107795 | CV3136551 | single nucleotide variant | NM_030912.3(TRIM8):c.828G>A (p.Met276Ile) | not provided [RCV003835705] | benign | 10 | 102655241 | 102655241 | Human | | name |
| 405067532 | CV3140106 | single nucleotide variant | NM_030912.3(TRIM8):c.400C>A (p.Leu134Met) | not provided [RCV003833261] | uncertain significance | 10 | 102645017 | 102645017 | Human | | name |
| 405226002 | CV3142455 | single nucleotide variant | NM_030912.3(TRIM8):c.806C>T (p.Ala269Val) | not provided [RCV003847994] | uncertain significance | 10 | 102655219 | 102655219 | Human | | name |
| 405137626 | CV3144725 | single nucleotide variant | NM_030912.3(TRIM8):c.861G>C (p.Gln287His) | not provided [RCV003855242] | likely benign|uncertain significance | 10 | 102655274 | 102655274 | Human | | name |
| 405177234 | CV3146972 | single nucleotide variant | NM_030912.3(TRIM8):c.796G>A (p.Ala266Thr) | not provided [RCV003842068]|not specified [RCV004801413] | uncertain significance | 10 | 102655209 | 102655209 | Human | | name |
| 405181394 | CV3147560 | single nucleotide variant | NM_030912.3(TRIM8):c.883G>A (p.Asp295Asn) | not provided [RCV003842462] | likely benign | 10 | 102655296 | 102655296 | Human | | name |
| 405157865 | CV3152618 | single nucleotide variant | NM_030912.3(TRIM8):c.742C>G (p.Arg248Gly) | not provided [RCV003840545] | uncertain significance | 10 | 102655155 | 102655155 | Human | | name |
| 404987905 | CV3179761 | single nucleotide variant | NM_030912.3(TRIM8):c.565A>T (p.Ile189Phe) | Inborn genetic diseases [RCV004369665]|not provided [RCV003881238] | likely benign|uncertain significance | 10 | 102645182 | 102645182 | Human | 1 | name |
| 408370374 | CV3503052 | single nucleotide variant | NM_030912.3(TRIM8):c.320G>A (p.Cys107Tyr) | not provided [RCV004724173] | uncertain significance | 10 | 102644937 | 102644937 | Human | | name |
| 408388962 | CV3529159 | single nucleotide variant | NM_030912.3(TRIM8):c.937C>G (p.Gln313Glu) | not provided [RCV004773981] | uncertain significance | 10 | 102656274 | 102656274 | Human | | name |
| 408389321 | CV3529330 | single nucleotide variant | NM_030912.3(TRIM8):c.755A>G (p.Glu252Gly) | not provided [RCV004774152] | uncertain significance | 10 | 102655168 | 102655168 | Human | | name |
| 597832784 | CV3734738 | single nucleotide variant | NM_030912.3(TRIM8):c.475G>A (p.Glu159Lys) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV005054116] | uncertain significance | 10 | 102645092 | 102645092 | Human | 1 | name |
| 597953896 | CV3757029 | single nucleotide variant | NM_030912.3(TRIM8):c.828G>T (p.Met276Ile) | not provided [RCV005079890] | uncertain significance | 10 | 102655241 | 102655241 | Human | | name |
| 597937876 | CV3760005 | single nucleotide variant | NM_030912.3(TRIM8):c.947C>G (p.Thr316Arg) | not provided [RCV005076928] | uncertain significance | 10 | 102656284 | 102656284 | Human | | name |
| 597944565 | CV3776625 | single nucleotide variant | NM_030912.3(TRIM8):c.670A>G (p.Lys224Glu) | not provided [RCV005119481] | uncertain significance | 10 | 102655083 | 102655083 | Human | | name |
| 597901012 | CV3779038 | single nucleotide variant | NM_030912.3(TRIM8):c.876G>T (p.Lys292Asn) | not provided [RCV005127115] | uncertain significance | 10 | 102655289 | 102655289 | Human | | name |
| 597947090 | CV3790580 | single nucleotide variant | NM_030912.3(TRIM8):c.464A>C (p.His155Pro) | not provided [RCV005134988] | uncertain significance | 10 | 102645081 | 102645081 | Human | | name |
| 597966704 | CV3794299 | single nucleotide variant | NM_030912.3(TRIM8):c.804G>T (p.Gln268His) | not provided [RCV005140475] | uncertain significance | 10 | 102655217 | 102655217 | Human | | name |
| 597946638 | CV3800186 | single nucleotide variant | NM_030912.3(TRIM8):c.298C>T (p.Pro100Ser) | not provided [RCV005134878] | uncertain significance | 10 | 102644915 | 102644915 | Human | | name |
| 597854306 | CV3805936 | single nucleotide variant | NM_030912.3(TRIM8):c.785G>A (p.Cys262Tyr) | not provided [RCV005145866] | uncertain significance | 10 | 102655198 | 102655198 | Human | | name |
| 597860313 | CV3817259 | single nucleotide variant | NM_030912.3(TRIM8):c.348G>C (p.Gln116His) | not provided [RCV005146639] | uncertain significance | 10 | 102644965 | 102644965 | Human | | name |
| 597896649 | CV3834628 | single nucleotide variant | NM_030912.3(TRIM8):c.576G>A (p.Met192Ile) | not provided [RCV005180539] | uncertain significance | 10 | 102654658 | 102654658 | Human | | name |
| 598126348 | CV3881875 | deletion | NM_030912.3(TRIM8):c.1514del (p.Pro505fs) | not provided [RCV005233427] | uncertain significance | 10 | 102657210 | 102657210 | Human | | name |
| 598126803 | CV3882259 | single nucleotide variant | NM_030912.3(TRIM8):c.872A>G (p.Asp291Gly) | not provided [RCV005233810] | uncertain significance | 10 | 102655285 | 102655285 | Human | | name |
| 598274462 | CV3935724 | single nucleotide variant | NM_030912.3(TRIM8):c.733G>A (p.Glu245Lys) | Inborn genetic diseases [RCV005303940] | uncertain significance | 10 | 102655146 | 102655146 | Human | 1 | name |
| 617153382 | CV4021212 | single nucleotide variant | NM_030912.3(TRIM8):c.494A>G (p.Gln165Arg) | not provided [RCV005428965] | uncertain significance | 10 | 102645111 | 102645111 | Human | | name |
| 150407182 | CV1182178 | single nucleotide variant | NM_030912.3(TRIM8):c.1338T>A (p.Tyr446Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549296] | pathogenic | 10 | 102657036 | 102657036 | Human | 1 | name |
| 150407184 | CV1182179 | single nucleotide variant | NM_030912.3(TRIM8):c.1331C>A (p.Ser444Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549297] | pathogenic | 10 | 102657029 | 102657029 | Human | 1 | name |
| 150415807 | CV1182182 | single nucleotide variant | NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549303]|Seizure [RCV001849526] | pathogenic|likely pathogenic | 10 | 102657078 | 102657078 | Human | 5 | name |
| 150415815 | CV1182184 | single nucleotide variant | NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549307]|Seizure [RCV001849528]|not provided [RCV004728770] | pathogenic|likely pathogenic | 10 | 102656929 | 102656929 | Human | 5 | name |
| 150415818 | CV1182185 | single nucleotide variant | NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549309]|Seizure [RCV001849529] | pathogenic|likely pathogenic | 10 | 102657031 | 102657031 | Human | 5 | name |
| 150552591 | CV1306428 | single nucleotide variant | NM_030912.3(TRIM8):c.1351G>A (p.Ala451Thr) | not provided [RCV001768050] | uncertain significance | 10 | 102657049 | 102657049 | Human | | name |
| 150535253 | CV1307010 | single nucleotide variant | NM_030912.3(TRIM8):c.1205C>A (p.Ala402Glu) | not provided [RCV001759064] | uncertain significance | 10 | 102656903 | 102656903 | Human | | name |
| 150535392 | CV1307111 | single nucleotide variant | NM_030912.3(TRIM8):c.1520C>T (p.Pro507Leu) | not provided [RCV001759166] | uncertain significance | 10 | 102657218 | 102657218 | Human | | name |
| 150553787 | CV1307732 | single nucleotide variant | NM_030912.3(TRIM8):c.1066G>A (p.Val356Met) | not provided [RCV001769507] | uncertain significance | 10 | 102656764 | 102656764 | Human | | name |
| 150557240 | CV1310599 | single nucleotide variant | NM_030912.3(TRIM8):c.1417T>C (p.Cys473Arg) | not provided [RCV001776333] | uncertain significance | 10 | 102657115 | 102657115 | Human | | name |
| 150533303 | CV1311111 | single nucleotide variant | NM_030912.3(TRIM8):c.1145C>T (p.Ala382Val) | not provided [RCV001776846] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 102656843 | 102656843 | Human | | name |
| 151758202 | CV1336601 | single nucleotide variant | NM_030912.3(TRIM8):c.1240C>T (p.Gln414Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV003458774]|Seizure [RCV001849831] | pathogenic|likely pathogenic | 10 | 102656938 | 102656938 | Human | 5 | name |
| 151758207 | CV1336602 | single nucleotide variant | NM_030912.3(TRIM8):c.1461C>G (p.Tyr487Ter) | Seizure [RCV001849832] | likely pathogenic | 10 | 102657159 | 102657159 | Human | 2 | name |
| 151864160 | CV1445670 | single nucleotide variant | NM_030912.3(TRIM8):c.1205C>T (p.Ala402Val) | Inborn genetic diseases [RCV004970782]|not provided [RCV002018132] | benign|likely benign|uncertain significance | 10 | 102656903 | 102656903 | Human | 1 | name |
| 151728114 | CV1517477 | single nucleotide variant | NM_030912.3(TRIM8):c.1200C>G (p.Tyr400Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV002052093] | likely pathogenic | 10 | 102656898 | 102656898 | Human | 1 | name |
| 153345781 | CV1691424 | single nucleotide variant | NM_030912.3(TRIM8):c.1257C>A (p.Cys419Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV002272907] | pathogenic | 10 | 102656955 | 102656955 | Human | 1 | name |
| 155800334 | CV1862899 | single nucleotide variant | NM_030912.3(TRIM8):c.1357C>T (p.Gln453Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV002472307] | pathogenic | 10 | 102657055 | 102657055 | Human | 1 | name |
| 156288696 | CV1897186 | single nucleotide variant | NM_030912.3(TRIM8):c.1217C>G (p.Ala406Gly) | not provided [RCV002598661] | uncertain significance | 10 | 102656915 | 102656915 | Human | | name |
| 156358714 | CV1904128 | single nucleotide variant | NM_030912.3(TRIM8):c.1142C>T (p.Thr381Met) | TRIM8-related disorder [RCV004754925]|not provided [RCV002581574] | benign|likely benign | 10 | 102656840 | 102656840 | Human | 1 | name , trait , alternate_id |
| 156016818 | CV1912882 | single nucleotide variant | NM_030912.3(TRIM8):c.1510C>A (p.His504Asn) | not provided [RCV002619187] | likely benign | 10 | 102657208 | 102657208 | Human | | name |
| 156049417 | CV1914971 | single nucleotide variant | NM_030912.3(TRIM8):c.1325C>A (p.Pro442His) | not provided [RCV002620550] | likely benign | 10 | 102657023 | 102657023 | Human | | name |
| 155943305 | CV1920891 | single nucleotide variant | NM_030912.3(TRIM8):c.1156G>A (p.Ala386Thr) | Inborn genetic diseases [RCV002615780]|not provided [RCV002632221] | likely benign|uncertain significance | 10 | 102656854 | 102656854 | Human | 1 | name |
| 156372398 | CV1920930 | single nucleotide variant | NM_030912.3(TRIM8):c.1517T>C (p.Leu506Pro) | not provided [RCV002603288] | likely benign|conflicting interpretations of pathogenicity | 10 | 102657215 | 102657215 | Human | | name |
| 156409155 | CV1922203 | single nucleotide variant | NM_030912.3(TRIM8):c.1343A>G (p.Asn448Ser) | not provided [RCV002607470] | benign | 10 | 102657041 | 102657041 | Human | | name |
| 156054695 | CV1928655 | single nucleotide variant | NM_030912.3(TRIM8):c.1645G>C (p.Val549Leu) | not provided [RCV002620727] | likely benign|uncertain significance | 10 | 102657343 | 102657343 | Human | | name |
| 156444180 | CV1937706 | single nucleotide variant | NM_030912.3(TRIM8):c.1315C>G (p.Pro439Ala) | not provided [RCV003115101] | uncertain significance | 10 | 102657013 | 102657013 | Human | | name |
| 156439055 | CV1943923 | single nucleotide variant | NM_030912.3(TRIM8):c.1012G>A (p.Ala338Thr) | not provided [RCV003109008] | likely benign | 10 | 102656349 | 102656349 | Human | | name |
| 156391766 | CV1964948 | single nucleotide variant | NM_030912.3(TRIM8):c.1034G>A (p.Arg345Gln) | TRIM8-related disorder [RCV003418557]|not provided [RCV002583939] | uncertain significance | 10 | 102656371 | 102656371 | Human | 1 | name , trait , alternate_id |
| 155903986 | CV1975861 | single nucleotide variant | NM_030912.3(TRIM8):c.1465C>T (p.Arg489Cys) | not provided [RCV002613562] | uncertain significance | 10 | 102657163 | 102657163 | Human | | name |
| 156357546 | CV1976871 | single nucleotide variant | NM_030912.3(TRIM8):c.1097C>T (p.Pro366Leu) | not provided [RCV002581493] | uncertain significance | 10 | 102656795 | 102656795 | Human | | name |
| 156349639 | CV1978177 | single nucleotide variant | NM_030912.3(TRIM8):c.1555C>G (p.Leu519Val) | not provided [RCV002601730] | uncertain significance | 10 | 102657253 | 102657253 | Human | | name |
| 156235748 | CV1982420 | single nucleotide variant | NM_030912.3(TRIM8):c.1201G>A (p.Gly401Arg) | not provided [RCV002626962] | uncertain significance | 10 | 102656899 | 102656899 | Human | | name |
| 156393131 | CV2009136 | single nucleotide variant | NM_030912.3(TRIM8):c.1622G>A (p.Gly541Glu) | not provided [RCV002725250] | uncertain significance | 10 | 102657320 | 102657320 | Human | | name |
| 156100408 | CV2009722 | single nucleotide variant | NM_030912.3(TRIM8):c.1136A>G (p.His379Arg) | not provided [RCV002706646] | uncertain significance | 10 | 102656834 | 102656834 | Human | | name |
| 156297649 | CV2017143 | single nucleotide variant | NM_030912.3(TRIM8):c.1150C>T (p.Pro384Ser) | not provided [RCV002715915] | likely benign | 10 | 102656848 | 102656848 | Human | | name |
| 156159642 | CV2033762 | single nucleotide variant | NM_030912.3(TRIM8):c.1186G>A (p.Val396Met) | not provided [RCV002741498] | uncertain significance | 10 | 102656884 | 102656884 | Human | | name |
| 156115090 | CV2035451 | single nucleotide variant | NM_030912.3(TRIM8):c.1327C>A (p.Pro443Thr) | Inborn genetic diseases [RCV002785557]|not provided [RCV002766859] | likely benign|uncertain significance | 10 | 102657025 | 102657025 | Human | 1 | name |
| 156004645 | CV2064711 | single nucleotide variant | NM_030912.3(TRIM8):c.1396C>G (p.Leu466Val) | not provided [RCV002843572] | uncertain significance | 10 | 102657094 | 102657094 | Human | | name |
| 155989624 | CV2066740 | single nucleotide variant | NM_030912.3(TRIM8):c.1051C>T (p.Pro351Ser) | not provided [RCV002842904] | uncertain significance | 10 | 102656749 | 102656749 | Human | | name |
| 156119756 | CV2077642 | single nucleotide variant | NM_030912.3(TRIM8):c.1472G>C (p.Gly491Ala) | not provided [RCV002871215] | uncertain significance | 10 | 102657170 | 102657170 | Human | | name |
| 156227359 | CV2081169 | single nucleotide variant | NM_030912.3(TRIM8):c.1097C>G (p.Pro366Arg) | not provided [RCV002853440] | likely benign | 10 | 102656795 | 102656795 | Human | | name |
| 156267385 | CV2092288 | single nucleotide variant | NM_030912.3(TRIM8):c.1300C>T (p.Pro434Ser) | not provided [RCV002895809] | uncertain significance | 10 | 102656998 | 102656998 | Human | | name |
| 156321336 | CV2112044 | single nucleotide variant | NM_030912.3(TRIM8):c.1192G>A (p.Gly398Ser) | Inborn genetic diseases [RCV002937771]|TRIM8-related disorder [RCV003963432]|not provided [RCV002937772] | benign|likely benign | 10 | 102656890 | 102656890 | Human | 2 | name , trait , alternate_id |
| 156010010 | CV2124515 | single nucleotide variant | NM_030912.3(TRIM8):c.1303G>C (p.Val435Leu) | Inborn genetic diseases [RCV004067315]|not provided [RCV002948210] | benign|likely benign | 10 | 102657001 | 102657001 | Human | 1 | name |
| 156243595 | CV2148886 | single nucleotide variant | NM_030912.3(TRIM8):c.1328C>G (p.Pro443Arg) | not provided [RCV003008189] | uncertain significance | 10 | 102657026 | 102657026 | Human | | name |
| 155987305 | CV2159821 | single nucleotide variant | NM_030912.3(TRIM8):c.1499A>C (p.Gln500Pro) | not provided [RCV003034159] | uncertain significance | 10 | 102657197 | 102657197 | Human | | name |
| 156220876 | CV2173232 | single nucleotide variant | NM_030912.3(TRIM8):c.1460A>G (p.Tyr487Cys) | not provided [RCV003025188] | uncertain significance | 10 | 102657158 | 102657158 | Human | | name |
| 156340726 | CV2186835 | single nucleotide variant | NM_030912.3(TRIM8):c.1511A>G (p.His504Arg) | not provided [RCV003064216] | uncertain significance | 10 | 102657209 | 102657209 | Human | | name |
| 401718057 | CV2689596 | single nucleotide variant | NM_030912.3(TRIM8):c.1175C>T (p.Ser392Leu) | Inborn genetic diseases [RCV003266349]|not provided [RCV005061181] | uncertain significance | 10 | 102656873 | 102656873 | Human | 1 | name |
| 401742133 | CV2738899 | single nucleotide variant | NM_030912.3(TRIM8):c.1300C>A (p.Pro434Thr) | not provided [RCV003318293] | uncertain significance | 10 | 102656998 | 102656998 | Human | | name |
| 401859050 | CV2750417 | single nucleotide variant | NM_030912.3(TRIM8):c.1200C>A (p.Tyr400Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV003334090] | pathogenic | 10 | 102656898 | 102656898 | Human | 1 | name |
| 401887665 | CV2770074 | single nucleotide variant | NM_030912.3(TRIM8):c.1364C>T (p.Pro455Leu) | Inborn genetic diseases [RCV003367280] | uncertain significance | 10 | 102657062 | 102657062 | Human | 1 | name |
| 401877381 | CV2790149 | single nucleotide variant | NM_030912.3(TRIM8):c.1486A>G (p.Thr496Ala) | Inborn genetic diseases [RCV003383741] | uncertain significance | 10 | 102657184 | 102657184 | Human | 1 | name |
| 401907740 | CV2809582 | single nucleotide variant | NM_030912.3(TRIM8):c.1121C>T (p.Ala374Val) | not provided [RCV003422843] | uncertain significance | 10 | 102656819 | 102656819 | Human | | name |
| 405070715 | CV2875763 | single nucleotide variant | NM_030912.3(TRIM8):c.1316C>T (p.Pro439Leu) | not provided [RCV003548420] | uncertain significance | 10 | 102657014 | 102657014 | Human | | name |
| 402503206 | CV2879814 | single nucleotide variant | NM_030912.3(TRIM8):c.1288G>A (p.Gly430Ser) | not provided [RCV003546119] | uncertain significance | 10 | 102656986 | 102656986 | Human | | name |
| 405124774 | CV2889633 | single nucleotide variant | NM_030912.3(TRIM8):c.1335G>C (p.Gln445His) | Inborn genetic diseases [RCV004676225]|not provided [RCV003559461] | benign|uncertain significance | 10 | 102657033 | 102657033 | Human | 1 | name |
| 405113786 | CV2896560 | single nucleotide variant | NM_030912.3(TRIM8):c.1579G>A (p.Ala527Thr) | not provided [RCV003558245] | uncertain significance | 10 | 102657277 | 102657277 | Human | | name |
| 402470730 | CV2908111 | single nucleotide variant | NM_030912.3(TRIM8):c.1105G>T (p.Val369Leu) | not provided [RCV003570424] | uncertain significance | 10 | 102656803 | 102656803 | Human | | name |
| 405184228 | CV2920326 | single nucleotide variant | NM_030912.3(TRIM8):c.1127A>T (p.Lys376Met) | not provided [RCV003564260] | likely benign|uncertain significance | 10 | 102656825 | 102656825 | Human | | name |
| 405067594 | CV2923926 | single nucleotide variant | NM_030912.3(TRIM8):c.1352C>T (p.Ala451Val) | not provided [RCV003580918] | uncertain significance | 10 | 102657050 | 102657050 | Human | | name |
| 405068789 | CV2936883 | single nucleotide variant | NM_030912.3(TRIM8):c.1301C>T (p.Pro434Leu) | not provided [RCV003659292] | uncertain significance | 10 | 102656999 | 102656999 | Human | | name |
| 402511555 | CV2948336 | single nucleotide variant | NM_030912.3(TRIM8):c.1630T>C (p.Ser544Pro) | not provided [RCV003662608] | uncertain significance | 10 | 102657328 | 102657328 | Human | | name |
| 405113934 | CV2948794 | single nucleotide variant | NM_030912.3(TRIM8):c.1039A>C (p.Met347Leu) | not provided [RCV003666680] | uncertain significance | 10 | 102656376 | 102656376 | Human | | name |
| 405220645 | CV2965937 | single nucleotide variant | NM_030912.3(TRIM8):c.1471G>T (p.Gly491Cys) | not provided [RCV003680628] | uncertain significance | 10 | 102657169 | 102657169 | Human | | name |
| 405213742 | CV2971359 | single nucleotide variant | NM_030912.3(TRIM8):c.1012G>T (p.Ala338Ser) | not provided [RCV003679745] | uncertain significance | 10 | 102656349 | 102656349 | Human | | name |
| 405243008 | CV2974831 | single nucleotide variant | NM_030912.3(TRIM8):c.1441C>T (p.His481Tyr) | not provided [RCV003684487] | uncertain significance | 10 | 102657139 | 102657139 | Human | | name |
| 405205206 | CV2990588 | single nucleotide variant | NM_030912.3(TRIM8):c.1100G>C (p.Cys367Ser) | not provided [RCV003678576] | uncertain significance | 10 | 102656798 | 102656798 | Human | | name |
| 402518328 | CV3002235 | single nucleotide variant | NM_030912.3(TRIM8):c.1616T>C (p.Val539Ala) | not provided [RCV003690098] | uncertain significance | 10 | 102657314 | 102657314 | Human | | name |
| 405091797 | CV3054629 | single nucleotide variant | NM_030912.3(TRIM8):c.1291G>A (p.Gly431Ser) | not provided [RCV003717871] | benign|uncertain significance | 10 | 102656989 | 102656989 | Human | | name |
| 405207130 | CV3064473 | single nucleotide variant | NM_030912.3(TRIM8):c.1649C>G (p.Thr550Arg) | not provided [RCV003731455] | uncertain significance | 10 | 102657347 | 102657347 | Human | | name |
| 405213006 | CV3078135 | single nucleotide variant | NM_030912.3(TRIM8):c.1102G>A (p.Gly368Ser) | Inborn genetic diseases [RCV004968437]|not provided [RCV003732269] | uncertain significance | 10 | 102656800 | 102656800 | Human | 1 | name |
| 405237832 | CV3080987 | single nucleotide variant | NM_030912.3(TRIM8):c.1064C>T (p.Pro355Leu) | not provided [RCV003736164] | uncertain significance | 10 | 102656762 | 102656762 | Human | | name |
| 405006915 | CV3117558 | single nucleotide variant | NM_030912.3(TRIM8):c.1466G>A (p.Arg489His) | not provided [RCV003828613] | uncertain significance | 10 | 102657164 | 102657164 | Human | | name |
| 405177771 | CV3147019 | single nucleotide variant | NM_030912.3(TRIM8):c.1609T>C (p.Tyr537His) | not provided [RCV003842115] | uncertain significance | 10 | 102657307 | 102657307 | Human | | name |
| 405177415 | CV3148608 | single nucleotide variant | NM_030912.3(TRIM8):c.1376A>T (p.Gln459Leu) | not provided [RCV003858385] | uncertain significance | 10 | 102657074 | 102657074 | Human | | name |
| 405161280 | CV3160012 | single nucleotide variant | NM_030912.3(TRIM8):c.1105G>A (p.Val369Met) | not provided [RCV003857083] | uncertain significance | 10 | 102656803 | 102656803 | Human | | name |
| 405229296 | CV3180396 | single nucleotide variant | NM_030912.3(TRIM8):c.1496C>G (p.Ser499Trp) | not provided [RCV003864817] | uncertain significance | 10 | 102657194 | 102657194 | Human | | name |
| 405797560 | CV3347298 | single nucleotide variant | NM_030912.3(TRIM8):c.1162T>C (p.Phe388Leu) | Inborn genetic diseases [RCV004476223] | uncertain significance | 10 | 102656860 | 102656860 | Human | 1 | name |
| 405797567 | CV3347300 | single nucleotide variant | NM_030912.3(TRIM8):c.1294G>A (p.Ala432Thr) | Inborn genetic diseases [RCV004476225] | likely benign | 10 | 102656992 | 102656992 | Human | 1 | name |
| 405797570 | CV3347301 | single nucleotide variant | NM_030912.3(TRIM8):c.1359G>C (p.Gln453His) | Inborn genetic diseases [RCV004476226] | uncertain significance | 10 | 102657057 | 102657057 | Human | 1 | name |
| 407454163 | CV3490735 | single nucleotide variant | NM_030912.3(TRIM8):c.1639C>T (p.His547Tyr) | Inborn genetic diseases [RCV004684857] | uncertain significance | 10 | 102657337 | 102657337 | Human | 1 | name |
| 407454164 | CV3490736 | single nucleotide variant | NM_030912.3(TRIM8):c.1457C>T (p.Pro486Leu) | Inborn genetic diseases [RCV004684858] | uncertain significance | 10 | 102657155 | 102657155 | Human | 1 | name |
| 408393232 | CV3519742 | single nucleotide variant | NM_030912.3(TRIM8):c.1318G>A (p.Val440Met) | not provided [RCV004764038] | uncertain significance | 10 | 102657016 | 102657016 | Human | | name |
| 596943904 | CV3543061 | single nucleotide variant | NM_030912.3(TRIM8):c.1336T>G (p.Tyr446Asp) | not provided [RCV004798646] | uncertain significance | 10 | 102657034 | 102657034 | Human | | name |
| 596942565 | CV3544162 | single nucleotide variant | NM_030912.3(TRIM8):c.1462C>T (p.Pro488Ser) | not specified [RCV004800153] | uncertain significance | 10 | 102657160 | 102657160 | Human | | name |
| 597625180 | CV3614631 | single nucleotide variant | NM_030912.3(TRIM8):c.1166T>A (p.Leu389Gln) | Inborn genetic diseases [RCV004964408] | uncertain significance | 10 | 102656864 | 102656864 | Human | 1 | name |
| 597668008 | CV3732731 | single nucleotide variant | NM_030912.3(TRIM8):c.1564A>T (p.Arg522Ter) | not provided [RCV005004562] | uncertain significance | 10 | 102657262 | 102657262 | Human | | name |
| 597840149 | CV3737085 | single nucleotide variant | NM_030912.3(TRIM8):c.1432G>A (p.Val478Met) | not provided [RCV005064565] | uncertain significance | 10 | 102657130 | 102657130 | Human | | name |
| 597902983 | CV3741542 | single nucleotide variant | NM_030912.3(TRIM8):c.1615G>A (p.Val539Met) | not provided [RCV005072513] | uncertain significance | 10 | 102657313 | 102657313 | Human | | name |
| 597909611 | CV3749550 | single nucleotide variant | NM_030912.3(TRIM8):c.1633A>G (p.Thr545Ala) | Inborn genetic diseases [RCV005291156]|not provided [RCV005073398] | uncertain significance | 10 | 102657331 | 102657331 | Human | 1 | name |
| 597966723 | CV3751650 | single nucleotide variant | NM_030912.3(TRIM8):c.1590G>T (p.Gln530His) | not provided [RCV005083020] | uncertain significance | 10 | 102657288 | 102657288 | Human | | name |
| 597874710 | CV3766180 | single nucleotide variant | NM_030912.3(TRIM8):c.1592C>T (p.Pro531Leu) | not provided [RCV005108312] | uncertain significance | 10 | 102657290 | 102657290 | Human | | name |
| 597938702 | CV3775152 | single nucleotide variant | NM_030912.3(TRIM8):c.1625A>C (p.Gln542Pro) | not provided [RCV005117978] | uncertain significance | 10 | 102657323 | 102657323 | Human | | name |
| 597871757 | CV3805191 | single nucleotide variant | NM_030912.3(TRIM8):c.1041G>A (p.Met347Ile) | not provided [RCV005148469] | uncertain significance | 10 | 102656378 | 102656378 | Human | | name |
| 597934796 | CV3807136 | single nucleotide variant | NM_030912.3(TRIM8):c.1514C>T (p.Pro505Leu) | not provided [RCV005157707] | uncertain significance | 10 | 102657212 | 102657212 | Human | | name |
| 597972900 | CV3819984 | single nucleotide variant | NM_030912.3(TRIM8):c.1138T>C (p.Ser380Pro) | not provided [RCV005167698] | uncertain significance | 10 | 102656836 | 102656836 | Human | | name |
| 597911274 | CV3826111 | single nucleotide variant | NM_030912.3(TRIM8):c.1025A>G (p.Lys342Arg) | not provided [RCV005182847] | uncertain significance | 10 | 102656362 | 102656362 | Human | | name |
| 597879515 | CV3826261 | single nucleotide variant | NM_030912.3(TRIM8):c.1292G>A (p.Gly431Asp) | not provided [RCV005177957] | uncertain significance | 10 | 102656990 | 102656990 | Human | | name |
| 597847324 | CV3828011 | single nucleotide variant | NM_030912.3(TRIM8):c.1301C>G (p.Pro434Arg) | not provided [RCV005173086] | uncertain significance | 10 | 102656999 | 102656999 | Human | | name |
| 597976432 | CV3829597 | single nucleotide variant | NM_030912.3(TRIM8):c.1375C>G (p.Gln459Glu) | not provided [RCV005169864] | uncertain significance | 10 | 102657073 | 102657073 | Human | | name |
| 597876001 | CV3829770 | single nucleotide variant | NM_030912.3(TRIM8):c.1087C>A (p.Pro363Thr) | not provided [RCV005177478] | likely benign | 10 | 102656785 | 102656785 | Human | | name |
| 597975853 | CV3832801 | single nucleotide variant | NM_030912.3(TRIM8):c.1546C>G (p.Leu516Val) | not provided [RCV005169360] | uncertain significance | 10 | 102657244 | 102657244 | Human | | name |
| 597914716 | CV3833966 | single nucleotide variant | NM_030912.3(TRIM8):c.1598A>G (p.His533Arg) | not provided [RCV005183325] | uncertain significance | 10 | 102657296 | 102657296 | Human | | name |
| 598125634 | CV3885867 | single nucleotide variant | NM_030912.3(TRIM8):c.1415A>G (p.Asn472Ser) | not provided [RCV005241670] | uncertain significance | 10 | 102657113 | 102657113 | Human | | name |
| 598158719 | CV3896955 | single nucleotide variant | NM_030912.3(TRIM8):c.1198T>G (p.Tyr400Asp) | not provided [RCV005367929] | uncertain significance | 10 | 102656896 | 102656896 | Human | | name |
| 598274461 | CV3935722 | single nucleotide variant | NM_030912.3(TRIM8):c.1183C>T (p.Pro395Ser) | Inborn genetic diseases [RCV005303939] | uncertain significance | 10 | 102656881 | 102656881 | Human | 1 | name |
| 616936275 | CV4016272 | single nucleotide variant | NM_030912.3(TRIM8):c.1323C>A (p.Phe441Leu) | not provided [RCV005415138] | uncertain significance | 10 | 102657021 | 102657021 | Human | | name |
| 13819836 | CV575492 | single nucleotide variant | NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549299]|Inborn genetic diseases [RCV001266015]|Seizure [RCV001849431]|TRIM8-related epileptic encephalopathy [RCV000708575]|not provided [RCV001785708] | pathogenic|likely pathogenic|uncertain significance | 10 | 102657073 | 102657073 | Human | 7 | name , trait |
| 39456408 | CV965516 | single nucleotide variant | NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV004799287]|not provided [RCV002568744] | benign|uncertain significance | 10 | 102657154 | 102657154 | Human | 1 | name |
| 8689406 | CV97494 | single nucleotide variant | NM_030912.3(TRIM8):c.1561G>T (p.Val521Phe) | not provided [RCV000122573] | uncertain significance | 10 | 102657259 | 102657259 | Human | | name |
| 40889470 | CV975279 | single nucleotide variant | NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter) | Seizure [RCV001849497]|not provided [RCV001267992] | pathogenic|likely pathogenic | 10 | 102656965 | 102656965 | Human | 2 | name |
| 155950834 | CV2084461 | microsatellite | NM_030912.3(TRIM8):c.500GCT[1] (p.Cys168del) | not provided [RCV002880491] | uncertain significance | 10 | 102645115 | 102645117 | Human | | name |
| 243054060 | CV2416493 | deletion | NM_030912.3(TRIM8):c.313_315del (p.Lys105del) | not provided [RCV003149554] | uncertain significance | 10 | 102644928 | 102644930 | Human | | name |
| 150407188 | CV1182181 | deletion | NM_030912.3(TRIM8):c.1198_1220del (p.Tyr400fs) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001549301] | pathogenic | 10 | 102656891 | 102656913 | Human | 1 | name |
| 597972664 | CV3823461 | deletion | NM_030912.3(TRIM8):c.1046_1048del (p.Glu349del) | not provided [RCV005167557] | uncertain significance | 10 | 102656381 | 102656383 | Human | | name |
| 402492978 | CV2878016 | indel | NM_030912.3(TRIM8):c.1175_1176delinsTC (p.Ser392Phe) | not provided [RCV003545128] | likely benign|uncertain significance | 10 | 102656873 | 102656874 | Human | | name |
| 151713463 | CV1334535 | indel | NM_030912.3(TRIM8):c.1213_1219delinsCAGTACGG (p.Thr405fs) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001842253] | uncertain significance | 10 | 102656911 | 102656917 | Human | | name |
| 150529639 | CV1289192 | indel | NM_030912.3(TRIM8):c.167_169delinsTCT (p.Asn56_Gln57delinsIleTer) | Focal segmental glomerulosclerosis and neurodevelopmental syndrome [RCV001728032] | uncertain significance | 10 | 102644784 | 102644786 | Human | | name |
| 405034057 | CV2931886 | indel | NM_030912.3(TRIM8):c.471_472delinsTA (p.Glu157_Ala158delinsAspThr) | not provided [RCV003578578] | uncertain significance | 10 | 102645088 | 102645089 | Human | | name |
