| 151822664 | CV1418913 | single nucleotide variant | NM_152617.4(RNF168):c.378+5G>A | not provided [RCV001954914] | uncertain significance | 3 | 196488602 | 196488602 | Human | | name |
| 151804831 | CV1432442 | single nucleotide variant | NM_152617.4(RNF168):c.302-3T>C | not provided [RCV001991281] | uncertain significance | 3 | 196488686 | 196488686 | Human | | name |
| 151881329 | CV1499847 | single nucleotide variant | NM_152617.4(RNF168):c.379-5T>C | not provided [RCV001886523] | likely benign|uncertain significance | 3 | 196487583 | 196487583 | Human | | name |
| 152088839 | CV1655767 | single nucleotide variant | NM_152617.4(RNF168):c.559-4G>A | not provided [RCV002194026] | likely benign | 3 | 196483895 | 196483895 | Human | | name |
| 156184161 | CV1898356 | single nucleotide variant | NM_152617.4(RNF168):c.378+8C>T | not provided [RCV002595160] | likely benign | 3 | 196488599 | 196488599 | Human | | name |
| 156153893 | CV2023194 | single nucleotide variant | NM_152617.4(RNF168):c.681-8T>A | not provided [RCV002741310] | likely benign | 3 | 196475320 | 196475320 | Human | | name |
| 156023367 | CV2184747 | single nucleotide variant | NM_152617.4(RNF168):c.558+9T>G | not provided [RCV003035841] | likely benign | 3 | 196487390 | 196487390 | Human | | name |
| 404998651 | CV3008899 | single nucleotide variant | NM_152617.4(RNF168):c.558+1G>T | not provided [RCV003692958] | likely pathogenic | 3 | 196487398 | 196487398 | Human | | name |
| 405201507 | CV3143511 | single nucleotide variant | NM_152617.4(RNF168):c.559-7G>A | not provided [RCV003844497] | likely benign | 3 | 196483898 | 196483898 | Human | | name |
| 405245671 | CV3161853 | single nucleotide variant | NM_152617.4(RNF168):c.302-8T>C | not provided [RCV003868566] | likely benign | 3 | 196488691 | 196488691 | Human | | name |
| 405250989 | CV3180783 | single nucleotide variant | NM_152617.4(RNF168):c.763-4A>T | not provided [RCV003870060] | likely benign | 3 | 196472776 | 196472776 | Human | | name |
| 405291696 | CV3205898 | single nucleotide variant | NM_152617.4(RNF168):c.378+9T>C | RNF168-related disorder [RCV003964013]|not provided [RCV005064886] | likely benign | 3 | 196488598 | 196488598 | Human | 1 | name , trait , alternate_id |
| 597968793 | CV3761213 | single nucleotide variant | NM_152617.4(RNF168):c.558+1G>A | not provided [RCV005083600] | likely pathogenic | 3 | 196487398 | 196487398 | Human | | name |
| 597883244 | CV3834150 | deletion | NM_152617.4(RNF168):c.559-5del | not provided [RCV005178469] | likely benign | 3 | 196483896 | 196483896 | Human | | name |
| 597883251 | CV3834151 | single nucleotide variant | NM_152617.4(RNF168):c.559-8T>G | not provided [RCV005178470] | likely benign | 3 | 196483899 | 196483899 | Human | | name |
| 15132146 | CV787280 | single nucleotide variant | NM_152617.4(RNF168):c.681-9T>C | not provided [RCV000981332] | likely benign | 3 | 196475321 | 196475321 | Human | | name |
| 151235310 | CV1318579 | single nucleotide variant | NM_152617.4(RNF168):c.559-46A>G | RIDDLE syndrome [RCV001794907]|not provided [RCV004716824] | benign | 3 | 196483937 | 196483937 | Human | 1 | name |
| 151235311 | CV1318580 | deletion | NM_152617.4(RNF168):c.378+26del | RIDDLE syndrome [RCV001794908] | benign | 3 | 196488581 | 196488581 | Human | 1 | name |
| 151765074 | CV1418679 | single nucleotide variant | NM_152617.4(RNF168):c.762+18A>G | not provided [RCV001928964] | likely benign|uncertain significance | 3 | 196475213 | 196475213 | Human | | name |
| 151776687 | CV1424420 | single nucleotide variant | NM_152617.4(RNF168):c.559-20T>A | not provided [RCV002025875] | uncertain significance | 3 | 196483911 | 196483911 | Human | | name |
| 152046150 | CV1525805 | single nucleotide variant | NM_152617.4(RNF168):c.378+14A>C | not provided [RCV002126667] | likely benign | 3 | 196488593 | 196488593 | Human | | name |
| 152082488 | CV1548460 | single nucleotide variant | NM_152617.4(RNF168):c.681-19T>G | not provided [RCV002076556] | benign | 3 | 196475331 | 196475331 | Human | | name |
| 152119397 | CV1587636 | single nucleotide variant | NM_152617.4(RNF168):c.559-13T>C | not provided [RCV002081343] | likely benign | 3 | 196483904 | 196483904 | Human | | name |
| 152117897 | CV1594820 | single nucleotide variant | NM_152617.4(RNF168):c.559-10A>G | not provided [RCV002197646] | likely benign | 3 | 196483901 | 196483901 | Human | | name |
| 152086443 | CV1608365 | single nucleotide variant | NM_152617.4(RNF168):c.558+18A>G | not provided [RCV002212105] | likely benign | 3 | 196487381 | 196487381 | Human | | name |
| 152094858 | CV1617597 | single nucleotide variant | NM_152617.4(RNF168):c.763-18T>C | not provided [RCV002114569] | likely benign | 3 | 196472790 | 196472790 | Human | | name |
| 152131246 | CV1631096 | single nucleotide variant | NM_152617.4(RNF168):c.301+17G>A | not provided [RCV002119116] | likely benign | 3 | 196502856 | 196502856 | Human | | name |
| 152040764 | CV1649257 | single nucleotide variant | NM_152617.4(RNF168):c.379-14T>G | not provided [RCV002206310] | benign | 3 | 196487592 | 196487592 | Human | | name |
| 152172783 | CV1652709 | single nucleotide variant | NM_152617.4(RNF168):c.558+11G>A | not provided [RCV002143892] | likely benign | 3 | 196487388 | 196487388 | Human | | name |
| 152124622 | CV1665700 | single nucleotide variant | NM_152617.4(RNF168):c.558+19C>T | not provided [RCV002198513] | likely benign | 3 | 196487380 | 196487380 | Human | | name |
| 156394098 | CV1984319 | single nucleotide variant | NM_152617.4(RNF168):c.378+11A>G | not provided [RCV002635288] | likely benign | 3 | 196488596 | 196488596 | Human | | name |
| 156379530 | CV1997726 | single nucleotide variant | NM_152617.4(RNF168):c.378+16T>C | not provided [RCV002653562] | likely benign | 3 | 196488591 | 196488591 | Human | | name |
| 156285611 | CV2012759 | single nucleotide variant | NM_152617.4(RNF168):c.763-11G>C | not provided [RCV002715449] | likely benign | 3 | 196472783 | 196472783 | Human | | name |
| 156128734 | CV2084733 | single nucleotide variant | NM_152617.4(RNF168):c.558+17A>C | not provided [RCV002871552] | likely benign | 3 | 196487382 | 196487382 | Human | | name |
| 156402308 | CV2191509 | single nucleotide variant | NM_152617.4(RNF168):c.763-15T>C | not provided [RCV003052424] | likely benign | 3 | 196472787 | 196472787 | Human | | name |
| 405204252 | CV2986283 | single nucleotide variant | NM_152617.4(RNF168):c.378+19T>C | not provided [RCV003678505] | likely benign | 3 | 196488588 | 196488588 | Human | | name |
| 405130750 | CV3010947 | single nucleotide variant | NM_152617.4(RNF168):c.680+13G>A | not provided [RCV003701622] | likely benign | 3 | 196483757 | 196483757 | Human | | name |
| 405177800 | CV3020006 | single nucleotide variant | NM_152617.4(RNF168):c.379-14T>C | not provided [RCV003705178] | likely benign | 3 | 196487592 | 196487592 | Human | | name |
| 405133032 | CV3115203 | single nucleotide variant | NM_152617.4(RNF168):c.763-18T>A | not provided [RCV003816048] | likely benign | 3 | 196472790 | 196472790 | Human | | name |
| 597915882 | CV3740771 | single nucleotide variant | NM_152617.4(RNF168):c.302-17T>C | not provided [RCV005074108] | likely benign | 3 | 196488700 | 196488700 | Human | | name |
| 597962187 | CV3809103 | single nucleotide variant | NM_152617.4(RNF168):c.302-19C>A | not provided [RCV005164005] | likely benign | 3 | 196488702 | 196488702 | Human | | name |
| 597876669 | CV3825670 | single nucleotide variant | NM_152617.4(RNF168):c.379-16A>T | not provided [RCV005177544] | likely benign | 3 | 196487594 | 196487594 | Human | | name |
| 156022828 | CV2043273 | microsatellite | NM_152617.4(RNF168):c.559-1_560del | RIDDLE syndrome [RCV003147787]|not provided [RCV002780736] | likely pathogenic | 3 | 196483890 | 196483892 | Human | | name |
| 152136071 | CV1587762 | deletion | NM_152617.4(RNF168):c.301+7_301+20del | not provided [RCV002083517] | likely benign | 3 | 196502853 | 196502866 | Human | | name |
| 156337555 | CV1988439 | single nucleotide variant | NM_152617.4(RNF168):c.27C>T (p.Pro9=) | not provided [RCV002631264] | likely benign | 3 | 196503147 | 196503147 | Human | | name |
| 152078297 | CV1663791 | single nucleotide variant | NM_152617.4(RNF168):c.54C>T (p.Ile18=) | not provided [RCV002076031] | likely benign | 3 | 196503120 | 196503120 | Human | | name |
| 156446716 | CV1948070 | single nucleotide variant | NM_152617.4(RNF168):c.90G>A (p.Pro30=) | not provided [RCV003118230] | likely benign | 3 | 196503084 | 196503084 | Human | | name |
| 156096779 | CV1980996 | duplication | NM_152617.4(RNF168):c.302-19_302-15dup | not provided [RCV002622064] | likely benign | 3 | 196488697 | 196488698 | Human | | name |
| 156159202 | CV1984318 | deletion | NM_152617.4(RNF168):c.378+12_378+16del | not provided [RCV002642341] | likely benign | 3 | 196488591 | 196488595 | Human | | name |
| 405048864 | CV2886834 | single nucleotide variant | NM_152617.4(RNF168):c.54C>A (p.Ile18=) | not provided [RCV003579645] | likely benign | 3 | 196503120 | 196503120 | Human | | name |
| 405120434 | CV3116499 | single nucleotide variant | NM_152617.4(RNF168):c.31C>T (p.Leu11=) | not provided [RCV003814800] | likely benign | 3 | 196503143 | 196503143 | Human | | name |
| 405196655 | CV3138734 | deletion | NM_152617.4(RNF168):c.378+11_378+14del | not provided [RCV003821550] | likely benign | 3 | 196488593 | 196488596 | Human | | name |
| 597907030 | CV3738858 | single nucleotide variant | NM_152617.4(RNF168):c.87C>T (p.Leu29=) | not provided [RCV005073093] | likely benign | 3 | 196503087 | 196503087 | Human | | name |
| 127240900 | CV1070639 | single nucleotide variant | NM_152617.4(RNF168):c.159C>T (p.Phe53=) | not provided [RCV001393004] | likely benign | 3 | 196503015 | 196503015 | Human | | name |
| 151885137 | CV1364314 | single nucleotide variant | NM_152617.4(RNF168):c.129C>T (p.Thr43=) | not provided [RCV002037694] | likely benign | 3 | 196503045 | 196503045 | Human | | name |
| 151880838 | CV1421603 | single nucleotide variant | NM_152617.4(RNF168):c.19G>A (p.Ala7Thr) | not provided [RCV001886456] | uncertain significance | 3 | 196503155 | 196503155 | Human | | name |
| 151791643 | CV1509506 | single nucleotide variant | NM_152617.4(RNF168):c.19G>T (p.Ala7Ser) | Inborn genetic diseases [RCV003264133]|not provided [RCV001876570] | uncertain significance | 3 | 196503155 | 196503155 | Human | 1 | name |
| 152168337 | CV1547970 | single nucleotide variant | NM_152617.4(RNF168):c.120C>T (p.Phe40=) | not provided [RCV002161095] | likely benign | 3 | 196503054 | 196503054 | Human | | name |
| 152123491 | CV1570591 | single nucleotide variant | NM_152617.4(RNF168):c.168C>A (p.Arg56=) | not provided [RCV002217093] | likely benign | 3 | 196503006 | 196503006 | Human | | name |
| 152091763 | CV1602915 | single nucleotide variant | NM_152617.4(RNF168):c.258G>A (p.Arg86=) | not provided [RCV002194392] | likely benign | 3 | 196502916 | 196502916 | Human | | name |
| 152070306 | CV1628351 | single nucleotide variant | NM_152617.4(RNF168):c.156C>T (p.Pro52=) | not provided [RCV002169204] | likely benign | 3 | 196503018 | 196503018 | Human | | name |
| 156267272 | CV1973918 | single nucleotide variant | NM_152617.4(RNF168):c.180G>A (p.Ser60=) | not provided [RCV002597974] | likely benign | 3 | 196502994 | 196502994 | Human | | name |
| 405224863 | CV3042024 | single nucleotide variant | NM_152617.4(RNF168):c.141G>A (p.Ala47=) | not provided [RCV003710519] | likely benign | 3 | 196503033 | 196503033 | Human | | name |
| 405247604 | CV3159051 | single nucleotide variant | NM_152617.4(RNF168):c.180G>C (p.Ser60=) | not provided [RCV003869196] | likely benign | 3 | 196502994 | 196502994 | Human | | name |
| 405162457 | CV3160094 | single nucleotide variant | NM_152617.4(RNF168):c.117C>T (p.Cys39=) | not provided [RCV003857165] | likely benign | 3 | 196503057 | 196503057 | Human | | name |
| 597916720 | CV3737373 | single nucleotide variant | NM_152617.4(RNF168):c.22A>G (p.Ile8Val) | not provided [RCV005074162] | uncertain significance | 3 | 196503152 | 196503152 | Human | | name |
| 597844251 | CV3752589 | single nucleotide variant | NM_152617.4(RNF168):c.267G>A (p.Lys89=) | not provided [RCV005086995] | likely benign | 3 | 196502907 | 196502907 | Human | | name |
| 597954686 | CV3754100 | single nucleotide variant | NM_152617.4(RNF168):c.279T>G (p.Ser93=) | not provided [RCV005080143] | likely benign | 3 | 196502895 | 196502895 | Human | | name |
| 597943776 | CV3765896 | single nucleotide variant | NM_152617.4(RNF168):c.276G>T (p.Ala92=) | not provided [RCV005119274] | likely benign | 3 | 196502898 | 196502898 | Human | | name |
| 597923949 | CV3808579 | single nucleotide variant | NM_152617.4(RNF168):c.171G>A (p.Arg57=) | not provided [RCV005156093] | likely benign | 3 | 196503003 | 196503003 | Human | | name |
| 597849828 | CV3824495 | single nucleotide variant | NM_152617.4(RNF168):c.126G>A (p.Ser42=) | not provided [RCV005173534] | likely benign | 3 | 196503048 | 196503048 | Human | | name |
| 597866056 | CV3834408 | single nucleotide variant | NM_152617.4(RNF168):c.256A>C (p.Arg86=) | not provided [RCV005175775] | likely benign | 3 | 196502918 | 196502918 | Human | | name |
| 597924156 | CV3863059 | single nucleotide variant | NM_152617.4(RNF168):c.213C>T (p.Leu71=) | not provided [RCV005205547] | likely benign | 3 | 196502961 | 196502961 | Human | | name |
| 151842815 | CV1379748 | single nucleotide variant | NM_152617.4(RNF168):c.89C>T (p.Pro30Leu) | not provided [RCV001936322] | uncertain significance | 3 | 196503085 | 196503085 | Human | | name |
| 152047168 | CV1519722 | single nucleotide variant | NM_152617.4(RNF168):c.792A>G (p.Pro264=) | RNF168-related disorder [RCV003903442]|not provided [RCV002145215] | likely benign | 3 | 196472743 | 196472743 | Human | 1 | name , trait , alternate_id |
| 152175127 | CV1520688 | single nucleotide variant | NM_152617.4(RNF168):c.684T>C (p.Tyr228=) | not provided [RCV002184743] | likely benign | 3 | 196475309 | 196475309 | Human | | name |
| 152050550 | CV1533183 | single nucleotide variant | NM_152617.4(RNF168):c.990C>T (p.His330=) | not provided [RCV002166822] | likely benign | 3 | 196472545 | 196472545 | Human | | name |
| 152092554 | CV1593157 | single nucleotide variant | NM_152617.4(RNF168):c.627C>G (p.Pro209=) | not provided [RCV002094390] | likely benign | 3 | 196483823 | 196483823 | Human | | name |
| 152087518 | CV1594714 | single nucleotide variant | NM_152617.4(RNF168):c.384G>A (p.Ala128=) | not provided [RCV002113606] | likely benign | 3 | 196487573 | 196487573 | Human | | name |
| 152169673 | CV1632547 | single nucleotide variant | NM_152617.4(RNF168):c.918C>T (p.Ala306=) | not provided [RCV002142864] | likely benign | 3 | 196472617 | 196472617 | Human | | name |
| 152108671 | CV1643610 | single nucleotide variant | NM_152617.4(RNF168):c.333T>C (p.Ser111=) | not provided [RCV002096542] | likely benign | 3 | 196488652 | 196488652 | Human | | name |
| 156043803 | CV1914726 | single nucleotide variant | NM_152617.4(RNF168):c.585G>A (p.Ser195=) | not provided [RCV002620361] | uncertain significance | 3 | 196483865 | 196483865 | Human | | name |
| 156142623 | CV1959779 | single nucleotide variant | NM_152617.4(RNF168):c.693G>A (p.Pro231=) | not provided [RCV002572625] | likely benign | 3 | 196475300 | 196475300 | Human | | name |
| 156129269 | CV1966135 | single nucleotide variant | NM_152617.4(RNF168):c.99C>G (p.His33Gln) | not provided [RCV002593432] | uncertain significance | 3 | 196503075 | 196503075 | Human | | name |
| 156379117 | CV1968257 | single nucleotide variant | NM_152617.4(RNF168):c.381G>A (p.Val127=) | not provided [RCV002603835] | likely benign | 3 | 196487576 | 196487576 | Human | | name |
| 156378545 | CV2001324 | single nucleotide variant | NM_152617.4(RNF168):c.501G>A (p.Ala167=) | not provided [RCV002653487] | likely benign | 3 | 196487456 | 196487456 | Human | | name |
| 155978375 | CV2028561 | single nucleotide variant | NM_152617.4(RNF168):c.429A>G (p.Glu143=) | not provided [RCV002755208] | likely benign | 3 | 196487528 | 196487528 | Human | | name |
| 156374495 | CV2123963 | single nucleotide variant | NM_152617.4(RNF168):c.708G>T (p.Gly236=) | not provided [RCV002942594] | likely benign | 3 | 196475285 | 196475285 | Human | | name |
| 405138854 | CV2903581 | single nucleotide variant | NM_152617.4(RNF168):c.726A>G (p.Glu242=) | not provided [RCV003560681] | likely benign | 3 | 196475267 | 196475267 | Human | | name |
| 402480942 | CV2911052 | single nucleotide variant | NM_152617.4(RNF168):c.777T>C (p.Ser259=) | not provided [RCV003572071] | likely benign | 3 | 196472758 | 196472758 | Human | | name |
| 405214643 | CV2971406 | single nucleotide variant | NM_152617.4(RNF168):c.927C>T (p.Tyr309=) | not provided [RCV003679778] | likely benign | 3 | 196472608 | 196472608 | Human | | name |
| 405029734 | CV3129926 | single nucleotide variant | NM_152617.4(RNF168):c.975A>G (p.Leu325=) | not provided [RCV003830524] | likely benign | 3 | 196472560 | 196472560 | Human | | name |
| 405234284 | CV3155487 | single nucleotide variant | NM_152617.4(RNF168):c.720C>T (p.His240=) | not provided [RCV003853465] | likely benign | 3 | 196475273 | 196475273 | Human | | name |
| 405698048 | CV3313102 | single nucleotide variant | NM_152617.4(RNF168):c.44A>G (p.Gln15Arg) | Inborn genetic diseases [RCV004446478] | uncertain significance | 3 | 196503130 | 196503130 | Human | 1 | name |
| 405697665 | CV3313104 | single nucleotide variant | NM_152617.4(RNF168):c.67C>T (p.Leu23Phe) | Inborn genetic diseases [RCV004446480] | uncertain significance | 3 | 196503107 | 196503107 | Human | 1 | name |
| 405697498 | CV3313105 | single nucleotide variant | NM_152617.4(RNF168):c.73G>A (p.Glu25Lys) | Inborn genetic diseases [RCV004446481] | uncertain significance | 3 | 196503101 | 196503101 | Human | 1 | name |
| 405697399 | CV3313106 | single nucleotide variant | NM_152617.4(RNF168):c.74A>G (p.Glu25Gly) | Inborn genetic diseases [RCV004446482] | uncertain significance | 3 | 196503100 | 196503100 | Human | 1 | name |
| 597873316 | CV3747313 | single nucleotide variant | NM_152617.4(RNF168):c.543G>A (p.Lys181=) | not provided [RCV005068997] | likely benign | 3 | 196487414 | 196487414 | Human | | name |
| 597831328 | CV3750890 | single nucleotide variant | NM_152617.4(RNF168):c.624A>C (p.Thr208=) | not provided [RCV005084634] | likely benign | 3 | 196483826 | 196483826 | Human | | name |
| 597945263 | CV3812899 | single nucleotide variant | NM_152617.4(RNF168):c.79G>A (p.Val27Ile) | not provided [RCV005159912] | uncertain significance | 3 | 196503095 | 196503095 | Human | | name |
| 597869733 | CV3858481 | single nucleotide variant | NM_152617.4(RNF168):c.537A>G (p.Ala179=) | not provided [RCV005197224] | likely benign | 3 | 196487420 | 196487420 | Human | | name |
| 15164892 | CV708757 | single nucleotide variant | NM_152617.4(RNF168):c.972G>A (p.Glu324=) | RIDDLE syndrome [RCV001285508]|not provided [RCV000970830] | benign | 3 | 196472563 | 196472563 | Human | 1 | name |
| 15151658 | CV720367 | single nucleotide variant | NM_152617.4(RNF168):c.864A>G (p.Gln288=) | not provided [RCV000879643] | benign | 3 | 196472671 | 196472671 | Human | | name |
| 15171872 | CV720368 | single nucleotide variant | NM_152617.4(RNF168):c.402C>T (p.Ser134=) | not provided [RCV000883732] | likely benign | 3 | 196487555 | 196487555 | Human | | name |
| 15140614 | CV733987 | single nucleotide variant | NM_152617.4(RNF168):c.732A>G (p.Val244=) | not provided [RCV000899349] | likely benign | 3 | 196475261 | 196475261 | Human | | name |
| 15161577 | CV748167 | single nucleotide variant | NM_152617.4(RNF168):c.825G>A (p.Pro275=) | not provided [RCV000925713] | likely benign | 3 | 196472710 | 196472710 | Human | | name |
| 15135459 | CV748168 | single nucleotide variant | NM_152617.4(RNF168):c.690A>C (p.Thr230=) | RNF168-related disorder [RCV003960390]|not provided [RCV000920854] | likely benign | 3 | 196475303 | 196475303 | Human | 1 | name , trait , alternate_id |
| 126748719 | CV1004652 | single nucleotide variant | NM_152617.4(RNF168):c.209C>T (p.Ser70Phe) | not provided [RCV001326393] | uncertain significance | 3 | 196502965 | 196502965 | Human | | name |
| 127319737 | CV1134741 | single nucleotide variant | NM_152617.4(RNF168):c.1431C>T (p.Arg477=) | not provided [RCV001504147] | likely benign | 3 | 196472104 | 196472104 | Human | | name |
| 151811238 | CV1345280 | single nucleotide variant | NM_152617.4(RNF168):c.127A>G (p.Thr43Ala) | not provided [RCV001878290] | uncertain significance | 3 | 196503047 | 196503047 | Human | | name |
| 151709883 | CV1361071 | single nucleotide variant | NM_152617.4(RNF168):c.150C>G (p.Cys50Trp) | not provided [RCV001889146] | uncertain significance | 3 | 196503024 | 196503024 | Human | | name |
| 151802226 | CV1366062 | single nucleotide variant | NM_152617.4(RNF168):c.188G>A (p.Arg63Gln) | not provided [RCV001917817] | uncertain significance | 3 | 196502986 | 196502986 | Human | | name |
| 151882728 | CV1383902 | single nucleotide variant | NM_152617.4(RNF168):c.280G>A (p.Gly94Ser) | not provided [RCV001886788] | uncertain significance | 3 | 196502894 | 196502894 | Human | | name |
| 151788911 | CV1403416 | single nucleotide variant | NM_152617.4(RNF168):c.244A>G (p.Lys82Glu) | Inborn genetic diseases [RCV002557869]|not provided [RCV001916621] | uncertain significance | 3 | 196502930 | 196502930 | Human | 1 | name |
| 151869130 | CV1415789 | deletion | NM_152617.4(RNF168):c.644del (p.Ser215fs) | not provided [RCV001884914] | pathogenic | 3 | 196483806 | 196483806 | Human | | name |
| 151837681 | CV1417080 | single nucleotide variant | NM_152617.4(RNF168):c.260A>G (p.Glu87Gly) | not provided [RCV002014969] | uncertain significance | 3 | 196502914 | 196502914 | Human | | name |
| 151771846 | CV1417806 | single nucleotide variant | NM_152617.4(RNF168):c.106T>A (p.Cys36Ser) | not provided [RCV001874528] | uncertain significance | 3 | 196503068 | 196503068 | Human | | name |
| 151726599 | CV1445671 | single nucleotide variant | NM_152617.4(RNF168):c.274G>C (p.Ala92Pro) | not provided [RCV002040758] | uncertain significance | 3 | 196502900 | 196502900 | Human | | name |
| 151862391 | CV1457993 | single nucleotide variant | NM_152617.4(RNF168):c.209C>G (p.Ser70Cys) | not provided [RCV001938722] | uncertain significance | 3 | 196502965 | 196502965 | Human | | name |
| 151865538 | CV1477528 | duplication | NM_152617.4(RNF168):c.975dup (p.Cys326fs) | not provided [RCV001939114] | pathogenic|uncertain significance | 3 | 196472559 | 196472560 | Human | | name |
| 8555654 | CV15526 | duplication | NM_152617.4(RNF168):c.397dup (p.Ala133fs) | RIDDLE syndrome [RCV000000516] | pathogenic | 3 | 196487559 | 196487560 | Human | 1 | name |
| 152040956 | CV1561986 | single nucleotide variant | NM_152617.4(RNF168):c.1338C>T (p.Asp446=) | not provided [RCV002188252] | likely benign | 3 | 196472197 | 196472197 | Human | | name |
| 152173872 | CV1568644 | single nucleotide variant | NM_152617.4(RNF168):c.1065C>T (p.Cys355=) | not provided [RCV002184321] | likely benign | 3 | 196472470 | 196472470 | Human | | name |
| 152170618 | CV1578280 | single nucleotide variant | NM_152617.4(RNF168):c.1701G>A (p.Gln567=) | not provided [RCV002183216] | likely benign | 3 | 196471834 | 196471834 | Human | | name |
| 152154715 | CV1579523 | single nucleotide variant | NM_152617.4(RNF168):c.1128G>A (p.Glu376=) | RNF168-related disorder [RCV003923801]|not provided [RCV002158698] | likely benign | 3 | 196472407 | 196472407 | Human | 1 | name , trait , alternate_id |
| 152160979 | CV1598824 | single nucleotide variant | NM_152617.4(RNF168):c.1539C>G (p.Gly513=) | not provided [RCV002140915] | likely benign | 3 | 196471996 | 196471996 | Human | | name |
| 152085544 | CV1599228 | single nucleotide variant | NM_152617.4(RNF168):c.1014C>G (p.Pro338=) | not provided [RCV002093428] | likely benign | 3 | 196472521 | 196472521 | Human | | name |
| 152146275 | CV1615301 | single nucleotide variant | NM_152617.4(RNF168):c.1236C>T (p.Pro412=) | not provided [RCV002101524] | likely benign | 3 | 196472299 | 196472299 | Human | | name |
| 152054826 | CV1648596 | single nucleotide variant | NM_152617.4(RNF168):c.1017C>T (p.Tyr339=) | not provided [RCV002072802] | likely benign | 3 | 196472518 | 196472518 | Human | | name |
| 156183159 | CV1884765 | single nucleotide variant | NM_152617.4(RNF168):c.220G>C (p.Val74Leu) | Inborn genetic diseases [RCV003061215]|not provided [RCV003083628] | likely benign|uncertain significance | 3 | 196502954 | 196502954 | Human | 1 | name |
| 156413706 | CV1901052 | single nucleotide variant | NM_152617.4(RNF168):c.1359T>C (p.Leu453=) | not provided [RCV002588244] | likely benign | 3 | 196472176 | 196472176 | Human | | name |
| 156129245 | CV1966134 | single nucleotide variant | NM_152617.4(RNF168):c.110A>T (p.Lys37Ile) | not provided [RCV002593431] | uncertain significance | 3 | 196503064 | 196503064 | Human | | name |
| 156397044 | CV1985287 | single nucleotide variant | NM_152617.4(RNF168):c.172G>T (p.Val58Leu) | not provided [RCV002635590] | uncertain significance | 3 | 196503002 | 196503002 | Human | | name |
| 155920822 | CV1991264 | single nucleotide variant | NM_152617.4(RNF168):c.1596T>C (p.Asn532=) | not provided [RCV002614554] | likely benign | 3 | 196471939 | 196471939 | Human | | name |
| 156110419 | CV1996983 | single nucleotide variant | NM_152617.4(RNF168):c.1239A>G (p.Glu413=) | not provided [RCV002662466] | likely benign | 3 | 196472296 | 196472296 | Human | | name |
| 155990092 | CV2066760 | deletion | NM_152617.4(RNF168):c.510del (p.Glu170fs) | not provided [RCV002842922] | pathogenic | 3 | 196487447 | 196487447 | Human | | name |
| 156005256 | CV2099697 | single nucleotide variant | NM_152617.4(RNF168):c.1401A>G (p.Gln467=) | not provided [RCV002908826] | likely benign | 3 | 196472134 | 196472134 | Human | | name |
| 156025709 | CV2106110 | single nucleotide variant | NM_152617.4(RNF168):c.235A>G (p.Ile79Val) | not provided [RCV002923279] | uncertain significance | 3 | 196502939 | 196502939 | Human | | name |
| 156001913 | CV2106812 | single nucleotide variant | NM_152617.4(RNF168):c.1650T>A (p.Ala550=) | not provided [RCV002947830] | likely benign | 3 | 196471885 | 196471885 | Human | | name |
| 156200929 | CV2110044 | single nucleotide variant | NM_152617.4(RNF168):c.1455A>G (p.Lys485=) | not provided [RCV002957376] | likely benign|uncertain significance | 3 | 196472080 | 196472080 | Human | | name |
| 156217142 | CV2111045 | single nucleotide variant | NM_152617.4(RNF168):c.1149G>A (p.Lys383=) | not provided [RCV002932307] | likely benign | 3 | 196472386 | 196472386 | Human | | name |
| 156190993 | CV2149894 | single nucleotide variant | NM_152617.4(RNF168):c.1659A>G (p.Leu553=) | not provided [RCV003006002] | likely benign | 3 | 196471876 | 196471876 | Human | | name |
| 155918539 | CV2152607 | single nucleotide variant | NM_152617.4(RNF168):c.125C>T (p.Ser42Leu) | not provided [RCV002991784] | uncertain significance | 3 | 196503049 | 196503049 | Human | | name |
| 156238556 | CV2154575 | single nucleotide variant | NM_152617.4(RNF168):c.1398G>T (p.Arg466=) | not provided [RCV003025919] | likely benign | 3 | 196472137 | 196472137 | Human | | name |
| 156165757 | CV2184707 | single nucleotide variant | NM_152617.4(RNF168):c.223G>A (p.Glu75Lys) | not provided [RCV003057064] | uncertain significance | 3 | 196502951 | 196502951 | Human | | name |
| 156339198 | CV2188396 | single nucleotide variant | NM_152617.4(RNF168):c.199C>G (p.Arg67Gly) | not provided [RCV003064138] | uncertain significance | 3 | 196502975 | 196502975 | Human | | name |
| 156159458 | CV2262574 | single nucleotide variant | NM_152617.4(RNF168):c.275C>T (p.Ala92Val) | Inborn genetic diseases [RCV002827281] | uncertain significance | 3 | 196502899 | 196502899 | Human | 1 | name |
| 329402265 | CV2454107 | single nucleotide variant | NM_152617.4(RNF168):c.278C>G (p.Ser93Cys) | Inborn genetic diseases [RCV003199172] | uncertain significance | 3 | 196502896 | 196502896 | Human | 1 | name |
| 401742491 | CV2697790 | single nucleotide variant | NM_152617.4(RNF168):c.262T>C (p.Cys88Arg) | Inborn genetic diseases [RCV003274843] | uncertain significance | 3 | 196502912 | 196502912 | Human | 1 | name |
| 401898484 | CV2787763 | single nucleotide variant | NM_152617.4(RNF168):c.148T>C (p.Cys50Arg) | Inborn genetic diseases [RCV003376528] | uncertain significance | 3 | 196503026 | 196503026 | Human | 1 | name |
| 405146821 | CV2881496 | single nucleotide variant | NM_152617.4(RNF168):c.1356A>G (p.Gln452=) | not provided [RCV003561398] | likely benign | 3 | 196472179 | 196472179 | Human | | name |
| 405122512 | CV2884934 | single nucleotide variant | NM_152617.4(RNF168):c.1233C>T (p.Ser411=) | not provided [RCV003559220] | likely benign | 3 | 196472302 | 196472302 | Human | | name |
| 405227544 | CV2888899 | deletion | NM_152617.4(RNF168):c.560del (p.Asn187fs) | not provided [RCV003554828] | pathogenic | 3 | 196483890 | 196483890 | Human | | name |
| 405219094 | CV2903836 | single nucleotide variant | NM_152617.4(RNF168):c.1404A>G (p.Lys468=) | not provided [RCV003568139] | likely benign | 3 | 196472131 | 196472131 | Human | | name |
| 405188939 | CV2917985 | single nucleotide variant | NM_152617.4(RNF168):c.1707C>T (p.Cys569=) | not provided [RCV003564725] | likely benign | 3 | 196471828 | 196471828 | Human | | name |
| 405233880 | CV2975547 | single nucleotide variant | NM_152617.4(RNF168):c.1347G>A (p.Leu449=) | not provided [RCV003682708] | likely benign | 3 | 196472188 | 196472188 | Human | | name |
| 405240669 | CV2993695 | single nucleotide variant | NM_152617.4(RNF168):c.1014C>T (p.Pro338=) | not provided [RCV003719050] | likely benign | 3 | 196472521 | 196472521 | Human | | name |
| 405245946 | CV3162173 | single nucleotide variant | NM_152617.4(RNF168):c.1548C>T (p.Asp516=) | not provided [RCV003868692] | likely benign | 3 | 196471987 | 196471987 | Human | | name |
| 405127672 | CV3163169 | single nucleotide variant | NM_152617.4(RNF168):c.1668C>T (p.Ser556=) | not provided [RCV003854350] | likely benign | 3 | 196471867 | 196471867 | Human | | name |
| 405214622 | CV3169928 | single nucleotide variant | NM_152617.4(RNF168):c.1305A>G (p.Leu435=) | not provided [RCV003862532] | likely benign | 3 | 196472230 | 196472230 | Human | | name |
| 402471987 | CV3171675 | single nucleotide variant | NM_152617.4(RNF168):c.1341G>A (p.Arg447=) | not provided [RCV003874459] | likely benign | 3 | 196472194 | 196472194 | Human | | name |
| 405291507 | CV3205738 | single nucleotide variant | NM_152617.4(RNF168):c.1020G>A (p.Ser340=) | RNF168-related disorder [RCV003963876]|not provided [RCV005102999] | likely benign | 3 | 196472515 | 196472515 | Human | 1 | name , trait , alternate_id |
| 405698057 | CV3313100 | single nucleotide variant | NM_152617.4(RNF168):c.258G>T (p.Arg86Ser) | Inborn genetic diseases [RCV004446476] | uncertain significance | 3 | 196502916 | 196502916 | Human | 1 | name |
| 407486237 | CV3479629 | single nucleotide variant | NM_152617.4(RNF168):c.197C>T (p.Thr66Ile) | Inborn genetic diseases [RCV004665429] | uncertain significance | 3 | 196502977 | 196502977 | Human | 1 | name |
| 597718748 | CV3590244 | single nucleotide variant | NM_152617.4(RNF168):c.253C>T (p.Pro85Ser) | Inborn genetic diseases [RCV004960183] | uncertain significance | 3 | 196502921 | 196502921 | Human | 1 | name |
| 597638028 | CV3717445 | single nucleotide variant | NM_152617.4(RNF168):c.192C>G (p.Tyr64Ter) | RIDDLE syndrome [RCV005024581] | likely pathogenic | 3 | 196502982 | 196502982 | Human | 1 | name |
| 597918691 | CV3737870 | duplication | NM_152617.4(RNF168):c.658dup (p.Arg220fs) | not provided [RCV005074469] | pathogenic | 3 | 196483791 | 196483792 | Human | | name |
| 597922059 | CV3738457 | single nucleotide variant | NM_152617.4(RNF168):c.167G>T (p.Arg56Leu) | not provided [RCV005074864] | uncertain significance | 3 | 196503007 | 196503007 | Human | | name |
| 597905845 | CV3738713 | single nucleotide variant | NM_152617.4(RNF168):c.112C>G (p.Pro38Ala) | not provided [RCV005072947] | uncertain significance | 3 | 196503062 | 196503062 | Human | | name |
| 597961436 | CV3812147 | deletion | NM_152617.4(RNF168):c.377del (p.Lys126fs) | not provided [RCV005163800] | pathogenic | 3 | 196488608 | 196488608 | Human | | name |
| 597950708 | CV3815197 | duplication | NM_152617.4(RNF168):c.662dup (p.Asn221fs) | not provided [RCV005161147] | pathogenic | 3 | 196483787 | 196483788 | Human | | name |
| 597950954 | CV3815253 | single nucleotide variant | NM_152617.4(RNF168):c.1593T>C (p.Val531=) | not provided [RCV005161203] | likely benign | 3 | 196471942 | 196471942 | Human | | name |
| 597972004 | CV3829425 | single nucleotide variant | NM_152617.4(RNF168):c.1032A>G (p.Ala344=) | not provided [RCV005167212] | likely benign | 3 | 196472503 | 196472503 | Human | | name |
| 597833357 | CV3831532 | single nucleotide variant | NM_152617.4(RNF168):c.1182C>T (p.Ser394=) | not provided [RCV005170734] | likely benign | 3 | 196472353 | 196472353 | Human | | name |
| 597926195 | CV3840657 | single nucleotide variant | NM_152617.4(RNF168):c.209C>A (p.Ser70Tyr) | not provided [RCV005185128] | uncertain significance | 3 | 196502965 | 196502965 | Human | | name |
| 597919481 | CV3842621 | single nucleotide variant | NM_152617.4(RNF168):c.1389G>T (p.Val463=) | not provided [RCV005184106] | likely benign | 3 | 196472146 | 196472146 | Human | | name |
| 15116609 | CV708756 | single nucleotide variant | NM_152617.4(RNF168):c.1284A>G (p.Lys428=) | RIDDLE syndrome [RCV001287342]|RNF168-related disorder [RCV004756135]|not provided [RCV000962065] | benign | 3 | 196472251 | 196472251 | Human | 1 | name , trait , alternate_id |
| 15201449 | CV720365 | single nucleotide variant | NM_152617.4(RNF168):c.1680A>G (p.Lys560=) | RNF168-related disorder [RCV004756078]|not provided [RCV000891196] | likely benign | 3 | 196471855 | 196471855 | Human | 1 | name , trait , alternate_id |
| 15130691 | CV733984 | single nucleotide variant | NM_152617.4(RNF168):c.1278C>T (p.Thr426=) | RNF168-related disorder [RCV003922893]|not provided [RCV000897645] | benign|likely benign | 3 | 196472257 | 196472257 | Human | 1 | name , trait , alternate_id |
| 15118125 | CV733985 | single nucleotide variant | NM_152617.4(RNF168):c.1138C>T (p.Leu380=) | not provided [RCV000895495] | likely benign | 3 | 196472397 | 196472397 | Human | | name |
| 15200272 | CV748165 | single nucleotide variant | NM_152617.4(RNF168):c.1194C>G (p.Val398=) | not provided [RCV000912798] | likely benign | 3 | 196472341 | 196472341 | Human | | name |
| 15107490 | CV748166 | single nucleotide variant | NM_152617.4(RNF168):c.1134C>T (p.Cys378=) | RNF168-related disorder [RCV003950827]|not provided [RCV000915965] | likely benign | 3 | 196472401 | 196472401 | Human | 1 | name , trait , alternate_id |
| 15182006 | CV763788 | single nucleotide variant | NM_152617.4(RNF168):c.1653C>T (p.His551=) | not provided [RCV000930263] | likely benign | 3 | 196471882 | 196471882 | Human | | name |
| 15178032 | CV763789 | single nucleotide variant | NM_152617.4(RNF168):c.1131G>A (p.Ser377=) | not provided [RCV000929298] | likely benign | 3 | 196472404 | 196472404 | Human | | name |
| 15176324 | CV763790 | single nucleotide variant | NM_152617.4(RNF168):c.1008A>G (p.Arg336=) | not provided [RCV000928891] | likely benign | 3 | 196472527 | 196472527 | Human | | name |
| 41406979 | CV980450 | single nucleotide variant | NM_152617.4(RNF168):c.237A>G (p.Ile79Met) | Inborn genetic diseases [RCV002541756]|RIDDLE syndrome [RCV001280980] | uncertain significance | 3 | 196502937 | 196502937 | Human | 2 | name |
| 126726105 | CV1016226 | single nucleotide variant | NM_152617.4(RNF168):c.496A>G (p.Arg166Gly) | RIDDLE syndrome [RCV001331782] | uncertain significance | 3 | 196487461 | 196487461 | Human | 1 | name |
| 126749410 | CV1025165 | single nucleotide variant | NM_152617.4(RNF168):c.976T>C (p.Cys326Arg) | Inborn genetic diseases [RCV004036672]|not provided [RCV001352048] | uncertain significance | 3 | 196472559 | 196472559 | Human | 1 | name |
| 151893357 | CV1338180 | single nucleotide variant | NM_152617.4(RNF168):c.370A>G (p.Ile124Val) | not provided [RCV001944955] | uncertain significance | 3 | 196488615 | 196488615 | Human | | name |
| 151758399 | CV1349835 | single nucleotide variant | NM_152617.4(RNF168):c.521G>A (p.Ser174Asn) | Inborn genetic diseases [RCV004671601]|not provided [RCV001986981] | uncertain significance | 3 | 196487436 | 196487436 | Human | 1 | name |
| 151798521 | CV1352768 | deletion | NM_152617.4(RNF168):c.1698del (p.Gln567fs) | not provided [RCV001877160] | uncertain significance | 3 | 196471837 | 196471837 | Human | | name |
| 151813797 | CV1382233 | single nucleotide variant | NM_152617.4(RNF168):c.444G>T (p.Arg148Ser) | Inborn genetic diseases [RCV002625399]|not provided [RCV001992082] | uncertain significance | 3 | 196487513 | 196487513 | Human | 1 | name |
| 151820435 | CV1390812 | single nucleotide variant | NM_152617.4(RNF168):c.766A>G (p.Ile256Val) | Inborn genetic diseases [RCV004955962]|not provided [RCV001992716] | uncertain significance | 3 | 196472769 | 196472769 | Human | 1 | name |
| 151825706 | CV1392141 | single nucleotide variant | NM_152617.4(RNF168):c.412G>T (p.Glu138Ter) | not provided [RCV001879635] | pathogenic | 3 | 196487545 | 196487545 | Human | | name |
| 151780012 | CV1408397 | single nucleotide variant | NM_152617.4(RNF168):c.847C>A (p.Leu283Ile) | not provided [RCV001915791] | uncertain significance | 3 | 196472688 | 196472688 | Human | | name |
| 151793392 | CV1411367 | duplication | NM_152617.4(RNF168):c.1130dup (p.Cys378fs) | not provided [RCV002010907] | pathogenic|uncertain significance | 3 | 196472404 | 196472405 | Human | | name |
| 151812692 | CV1413765 | single nucleotide variant | NM_152617.4(RNF168):c.659G>C (p.Arg220Thr) | Inborn genetic diseases [RCV003250418]|not provided [RCV002029128] | likely benign|uncertain significance | 3 | 196483791 | 196483791 | Human | 1 | name |
| 151842147 | CV1418162 | single nucleotide variant | NM_152617.4(RNF168):c.829C>G (p.Leu277Val) | not provided [RCV001902974] | uncertain significance | 3 | 196472706 | 196472706 | Human | | name |
| 151766420 | CV1418854 | single nucleotide variant | NM_152617.4(RNF168):c.880A>G (p.Ile294Val) | not provided [RCV001929094] | uncertain significance | 3 | 196472655 | 196472655 | Human | | name |
| 151721318 | CV1421007 | single nucleotide variant | NM_152617.4(RNF168):c.767T>C (p.Ile256Thr) | Inborn genetic diseases [RCV002545746]|not provided [RCV002040123] | likely benign|uncertain significance | 3 | 196472768 | 196472768 | Human | 1 | name |
| 151804754 | CV1429767 | single nucleotide variant | NM_152617.4(RNF168):c.422C>T (p.Ala141Val) | Inborn genetic diseases [RCV004671587]|not provided [RCV001974233] | uncertain significance | 3 | 196487535 | 196487535 | Human | 1 | name |
| 151793968 | CV1434191 | single nucleotide variant | NM_152617.4(RNF168):c.892A>G (p.Met298Val) | not provided [RCV001866509] | uncertain significance | 3 | 196472643 | 196472643 | Human | | name |
| 151769447 | CV1441926 | single nucleotide variant | NM_152617.4(RNF168):c.919G>A (p.Glu307Lys) | not provided [RCV002025210] | uncertain significance | 3 | 196472616 | 196472616 | Human | | name |
| 151849114 | CV1442000 | single nucleotide variant | NM_152617.4(RNF168):c.578G>A (p.Ser193Asn) | not provided [RCV001995727] | uncertain significance | 3 | 196483872 | 196483872 | Human | | name |
| 151780765 | CV1446295 | single nucleotide variant | NM_152617.4(RNF168):c.824C>T (p.Pro275Leu) | Inborn genetic diseases [RCV004956088]|not provided [RCV001989109] | uncertain significance | 3 | 196472711 | 196472711 | Human | 1 | name |
| 151822778 | CV1456464 | single nucleotide variant | NM_152617.4(RNF168):c.494G>A (p.Arg165Gln) | not provided [RCV002030049] | uncertain significance | 3 | 196487463 | 196487463 | Human | | name |
| 151741936 | CV1466965 | single nucleotide variant | NM_152617.4(RNF168):c.692C>T (p.Pro231Leu) | not provided [RCV001912007] | uncertain significance | 3 | 196475301 | 196475301 | Human | | name |
| 151713988 | CV1473340 | single nucleotide variant | NM_152617.4(RNF168):c.413A>T (p.Glu138Val) | not provided [RCV001889957] | uncertain significance | 3 | 196487544 | 196487544 | Human | | name |
| 151799843 | CV1479912 | single nucleotide variant | NM_152617.4(RNF168):c.683A>C (p.Tyr228Ser) | Inborn genetic diseases [RCV002555354]|not provided [RCV001898962] | uncertain significance | 3 | 196475310 | 196475310 | Human | 1 | name |
| 151808492 | CV1483518 | single nucleotide variant | NM_152617.4(RNF168):c.683A>G (p.Tyr228Cys) | Inborn genetic diseases [RCV004955800]|not provided [RCV001918376] | uncertain significance | 3 | 196475310 | 196475310 | Human | 1 | name |
| 151786017 | CV1489907 | single nucleotide variant | NM_152617.4(RNF168):c.596T>C (p.Leu199Ser) | Inborn genetic diseases [RCV002560400]|RIDDLE syndrome [RCV003147702]|not provided [RCV001930908] | uncertain significance | 3 | 196483854 | 196483854 | Human | 2 | name |
| 151721088 | CV1494637 | single nucleotide variant | NM_152617.4(RNF168):c.700C>G (p.Gln234Glu) | not provided [RCV001965988] | uncertain significance | 3 | 196475293 | 196475293 | Human | | name |
| 151773223 | CV1502245 | single nucleotide variant | NM_152617.4(RNF168):c.524A>G (p.Asp175Gly) | not provided [RCV001929732] | uncertain significance | 3 | 196487433 | 196487433 | Human | | name |
| 8696367 | CV150469 | single nucleotide variant | NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) | RIDDLE syndrome [RCV000128863]|RNF168-related disorder [RCV004755777]|not provided [RCV000727446] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 3 | 196487566 | 196487566 | Human | 1 | name , trait , alternate_id |
| 151752572 | CV1508552 | single nucleotide variant | NM_152617.4(RNF168):c.470A>G (p.Glu157Gly) | not provided [RCV001986442] | uncertain significance | 3 | 196487487 | 196487487 | Human | | name |
| 151846819 | CV1513013 | single nucleotide variant | NM_152617.4(RNF168):c.311A>C (p.Tyr104Ser) | not provided [RCV001922230] | uncertain significance | 3 | 196488674 | 196488674 | Human | | name |
| 153303956 | CV1690572 | single nucleotide variant | NM_152617.4(RNF168):c.940G>T (p.Val314Phe) | not provided [RCV002269616] | uncertain significance | 3 | 196472595 | 196472595 | Human | | name |
| 153303958 | CV1690573 | single nucleotide variant | NM_152617.4(RNF168):c.939C>A (p.Asn313Lys) | not provided [RCV002269617] | uncertain significance | 3 | 196472596 | 196472596 | Human | | name |
| 156194228 | CV1900512 | single nucleotide variant | NM_152617.4(RNF168):c.887C>T (p.Ser296Phe) | not provided [RCV002574513] | uncertain significance | 3 | 196472648 | 196472648 | Human | | name |
| 156204883 | CV1913097 | single nucleotide variant | NM_152617.4(RNF168):c.394C>T (p.Arg132Trp) | Inborn genetic diseases [RCV002595843]|not provided [RCV002595842] | uncertain significance | 3 | 196487563 | 196487563 | Human | 1 | name |
| 156368908 | CV1919939 | single nucleotide variant | NM_152617.4(RNF168):c.584C>T (p.Ser195Leu) | Inborn genetic diseases [RCV004661573]|not provided [RCV002603025] | likely benign|uncertain significance | 3 | 196483866 | 196483866 | Human | 1 | name |
| 156409424 | CV1922672 | single nucleotide variant | NM_152617.4(RNF168):c.844T>C (p.Ser282Pro) | not provided [RCV002607551] | uncertain significance | 3 | 196472691 | 196472691 | Human | | name |
| 156436988 | CV1936812 | single nucleotide variant | NM_152617.4(RNF168):c.563A>G (p.Asn188Ser) | not provided [RCV003106515] | uncertain significance | 3 | 196483887 | 196483887 | Human | | name |
| 156295889 | CV1955288 | single nucleotide variant | NM_152617.4(RNF168):c.994C>T (p.Arg332Ter) | not provided [RCV002578008] | pathogenic | 3 | 196472541 | 196472541 | Human | | name |
| 155914952 | CV1984182 | single nucleotide variant | NM_152617.4(RNF168):c.730G>A (p.Val244Ile) | not provided [RCV002614258] | uncertain significance | 3 | 196475263 | 196475263 | Human | | name |
| 156166172 | CV1986345 | single nucleotide variant | NM_152617.4(RNF168):c.434A>G (p.Tyr145Cys) | not provided [RCV002642582] | uncertain significance | 3 | 196487523 | 196487523 | Human | | name |
| 156010208 | CV1991757 | single nucleotide variant | NM_152617.4(RNF168):c.644G>A (p.Ser215Asn) | not provided [RCV002618866] | uncertain significance | 3 | 196483806 | 196483806 | Human | | name |
| 156065271 | CV2022263 | single nucleotide variant | NM_152617.4(RNF168):c.323G>A (p.Arg108His) | not provided [RCV002760146] | uncertain significance | 3 | 196488662 | 196488662 | Human | | name |
| 155992479 | CV2027090 | single nucleotide variant | NM_152617.4(RNF168):c.754G>A (p.Val252Ile) | not provided [RCV002755812] | uncertain significance | 3 | 196475239 | 196475239 | Human | | name |
| 155975960 | CV2032014 | single nucleotide variant | NM_152617.4(RNF168):c.674T>C (p.Ile225Thr) | Inborn genetic diseases [RCV004067756]|not provided [RCV002755102] | uncertain significance | 3 | 196483776 | 196483776 | Human | 1 | name |
| 155909953 | CV2032723 | single nucleotide variant | NM_152617.4(RNF168):c.709T>G (p.Ser237Ala) | not provided [RCV002750060] | uncertain significance | 3 | 196475284 | 196475284 | Human | | name |
| 10449765 | CV215279 | single nucleotide variant | NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) | RIDDLE syndrome [RCV003316125]|RNF168-related disorder [RCV003967546]|not provided [RCV000889623]|not specified [RCV000202860] | benign|likely benign | 3 | 196487449 | 196487449 | Human | 1 | name , trait , alternate_id |
| 156084644 | CV2170482 | single nucleotide variant | NM_152617.4(RNF168):c.341G>C (p.Gly114Ala) | not provided [RCV003038005] | uncertain significance | 3 | 196488644 | 196488644 | Human | | name |
| 156008645 | CV2175744 | single nucleotide variant | NM_152617.4(RNF168):c.947C>T (p.Thr316Ile) | not provided [RCV003035118] | uncertain significance | 3 | 196472588 | 196472588 | Human | | name |
| 156398822 | CV2194806 | single nucleotide variant | NM_152617.4(RNF168):c.382G>A (p.Ala128Thr) | Inborn genetic diseases [RCV002655741] | uncertain significance | 3 | 196487575 | 196487575 | Human | 1 | name |
| 156306736 | CV2252769 | single nucleotide variant | NM_152617.4(RNF168):c.493C>G (p.Arg165Gly) | Inborn genetic diseases [RCV002808598] | uncertain significance | 3 | 196487464 | 196487464 | Human | 1 | name |
| 156262556 | CV2314880 | single nucleotide variant | NM_152617.4(RNF168):c.401G>C (p.Ser134Thr) | Inborn genetic diseases [RCV002920595] | uncertain significance | 3 | 196487556 | 196487556 | Human | 1 | name |
| 156352434 | CV2323970 | single nucleotide variant | NM_152617.4(RNF168):c.457G>A (p.Glu153Lys) | Inborn genetic diseases [RCV002940087] | uncertain significance | 3 | 196487500 | 196487500 | Human | 1 | name |
| 11643870 | CV268399 | single nucleotide variant | NM_152617.4(RNF168):c.383C>T (p.Ala128Val) | not provided [RCV000903408]|not specified [RCV000402076] | likely benign | 3 | 196487574 | 196487574 | Human | | name |
| 401732498 | CV2691025 | single nucleotide variant | NM_152617.4(RNF168):c.688A>C (p.Thr230Pro) | Inborn genetic diseases [RCV003290199] | uncertain significance | 3 | 196475305 | 196475305 | Human | 1 | name |
| 401890763 | CV2778337 | single nucleotide variant | NM_152617.4(RNF168):c.311A>G (p.Tyr104Cys) | Inborn genetic diseases [RCV003354564] | likely benign | 3 | 196488674 | 196488674 | Human | 1 | name |
| 402517143 | CV2936392 | single nucleotide variant | NM_152617.4(RNF168):c.733C>T (p.Gln245Ter) | not provided [RCV003662962] | pathogenic | 3 | 196475260 | 196475260 | Human | | name |
| 405217088 | CV2978273 | single nucleotide variant | NM_152617.4(RNF168):c.655C>G (p.Gln219Glu) | not provided [RCV003709461] | uncertain significance | 3 | 196483795 | 196483795 | Human | | name |
| 405698053 | CV3313101 | single nucleotide variant | NM_152617.4(RNF168):c.350G>A (p.Arg117Lys) | Inborn genetic diseases [RCV004446477] | uncertain significance | 3 | 196488635 | 196488635 | Human | 1 | name |
| 405697865 | CV3313103 | single nucleotide variant | NM_152617.4(RNF168):c.547A>G (p.Ser183Gly) | Inborn genetic diseases [RCV004446479] | uncertain significance | 3 | 196487410 | 196487410 | Human | 1 | name |
| 405697403 | CV3313107 | single nucleotide variant | NM_152617.4(RNF168):c.845C>A (p.Ser282Tyr) | Inborn genetic diseases [RCV004446483] | uncertain significance | 3 | 196472690 | 196472690 | Human | 1 | name |
| 597716485 | CV3717444 | deletion | NM_152617.4(RNF168):c.1463del (p.Asn488fs) | RIDDLE syndrome [RCV005035303] | likely pathogenic | 3 | 196472072 | 196472072 | Human | 1 | name |
| 597916728 | CV3737372 | single nucleotide variant | NM_152617.4(RNF168):c.556A>G (p.Ile186Val) | not provided [RCV005074161] | uncertain significance | 3 | 196487401 | 196487401 | Human | | name |
| 598231716 | CV3909493 | single nucleotide variant | NM_152617.4(RNF168):c.803A>G (p.Asp268Gly) | Inborn genetic diseases [RCV005274544] | uncertain significance | 3 | 196472732 | 196472732 | Human | 1 | name |
| 598231720 | CV3909494 | single nucleotide variant | NM_152617.4(RNF168):c.751T>C (p.Ser251Pro) | Inborn genetic diseases [RCV005274545] | uncertain significance | 3 | 196475242 | 196475242 | Human | 1 | name |
| 598231724 | CV3909495 | single nucleotide variant | NM_152617.4(RNF168):c.543G>C (p.Lys181Asn) | Inborn genetic diseases [RCV005274546] | uncertain significance | 3 | 196487414 | 196487414 | Human | 1 | name |
| 598231727 | CV3909496 | single nucleotide variant | NM_152617.4(RNF168):c.462A>T (p.Glu154Asp) | Inborn genetic diseases [RCV005274547] | uncertain significance | 3 | 196487495 | 196487495 | Human | 1 | name |
| 598231738 | CV3909499 | single nucleotide variant | NM_152617.4(RNF168):c.734A>C (p.Gln245Pro) | Inborn genetic diseases [RCV005274550] | uncertain significance | 3 | 196475259 | 196475259 | Human | 1 | name |
| 13509071 | CV481683 | single nucleotide variant | NM_152617.4(RNF168):c.493C>T (p.Arg165Ter) | RIDDLE syndrome [RCV002497224]|not provided [RCV000578904] | pathogenic|likely pathogenic | 3 | 196487464 | 196487464 | Human | 1 | name |
| 15184072 | CV708758 | single nucleotide variant | NM_152617.4(RNF168):c.499G>A (p.Ala167Thr) | not provided [RCV000975025] | benign | 3 | 196487458 | 196487458 | Human | | name |
| 15174789 | CV763791 | single nucleotide variant | NM_152617.4(RNF168):c.482C>T (p.Ala161Val) | not provided [RCV000928517] | likely benign | 3 | 196487475 | 196487475 | Human | | name |
| 41405149 | CV981427 | single nucleotide variant | NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) | RIDDLE syndrome [RCV001285444]|not provided [RCV001529456] | likely benign|uncertain significance | 3 | 196487428 | 196487428 | Human | 1 | name |
| 41407322 | CV981428 | single nucleotide variant | NM_152617.4(RNF168):c.307G>A (p.Asp103Asn) | RIDDLE syndrome [RCV001289561]|not provided [RCV001520973] | benign | 3 | 196488678 | 196488678 | Human | 1 | name |
| 126749163 | CV989434 | single nucleotide variant | NM_152617.4(RNF168):c.331A>T (p.Ser111Cys) | not provided [RCV001297080] | uncertain significance | 3 | 196488654 | 196488654 | Human | | name |
| 126726101 | CV1016225 | single nucleotide variant | NM_152617.4(RNF168):c.1123G>T (p.Glu375Ter) | Riddle syndrome [RCV001331780] | pathogenic | 3 | 196472412 | 196472412 | Human | | name |
| 127312462 | CV1154427 | single nucleotide variant | NM_152617.4(RNF168):c.1030G>A (p.Ala344Thr) | not provided [RCV001518968] | benign | 3 | 196472505 | 196472505 | Human | | name |
| 151770296 | CV1339921 | single nucleotide variant | NM_152617.4(RNF168):c.1219A>G (p.Arg407Gly) | Inborn genetic diseases [RCV002551026]|not provided [RCV001874384] | uncertain significance | 3 | 196472316 | 196472316 | Human | 1 | name |
| 151870891 | CV1351643 | single nucleotide variant | NM_152617.4(RNF168):c.1701G>T (p.Gln567His) | not provided [RCV002018924] | uncertain significance | 3 | 196471834 | 196471834 | Human | | name |
| 151726404 | CV1352871 | single nucleotide variant | NM_152617.4(RNF168):c.1099A>G (p.Asn367Asp) | not provided [RCV001891774] | uncertain significance | 3 | 196472436 | 196472436 | Human | | name |
| 151822549 | CV1355339 | single nucleotide variant | NM_152617.4(RNF168):c.1380G>C (p.Glu460Asp) | not provided [RCV001934285] | uncertain significance | 3 | 196472155 | 196472155 | Human | | name |
| 151851136 | CV1361958 | single nucleotide variant | NM_152617.4(RNF168):c.1397G>A (p.Arg466Gln) | Inborn genetic diseases [RCV004043122]|not provided [RCV001978954] | uncertain significance | 3 | 196472138 | 196472138 | Human | 1 | name |
| 151800575 | CV1365800 | single nucleotide variant | NM_152617.4(RNF168):c.1112A>C (p.Glu371Ala) | not provided [RCV001917678] | uncertain significance | 3 | 196472423 | 196472423 | Human | | name |
| 151771599 | CV1366408 | single nucleotide variant | NM_152617.4(RNF168):c.1136T>G (p.Leu379Arg) | not provided [RCV001929570] | uncertain significance | 3 | 196472399 | 196472399 | Human | | name |
| 151711017 | CV1377282 | single nucleotide variant | NM_152617.4(RNF168):c.1435A>G (p.Thr479Ala) | not provided [RCV001889381] | uncertain significance | 3 | 196472100 | 196472100 | Human | | name |
| 151750871 | CV1377741 | single nucleotide variant | NM_152617.4(RNF168):c.1391C>T (p.Pro464Leu) | not provided [RCV001948125] | uncertain significance | 3 | 196472144 | 196472144 | Human | | name |
| 151782258 | CV1381400 | single nucleotide variant | NM_152617.4(RNF168):c.1677G>C (p.Gln559His) | Inborn genetic diseases [RCV004041412]|not provided [RCV001875471] | uncertain significance | 3 | 196471858 | 196471858 | Human | 1 | name |
| 151812893 | CV1382511 | single nucleotide variant | NM_152617.4(RNF168):c.1481C>A (p.Pro494His) | not provided [RCV002049027] | uncertain significance | 3 | 196472054 | 196472054 | Human | | name |
| 151787480 | CV1390475 | single nucleotide variant | NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu) | RIDDLE syndrome [RCV003598063]|not provided [RCV001931065] | uncertain significance | 3 | 196472516 | 196472516 | Human | 1 | name |
| 151794886 | CV1395121 | single nucleotide variant | NM_152617.4(RNF168):c.1430G>A (p.Arg477His) | not provided [RCV001973386] | uncertain significance | 3 | 196472105 | 196472105 | Human | | name |
| 151806691 | CV1400077 | single nucleotide variant | NM_152617.4(RNF168):c.1363A>T (p.Lys455Ter) | not provided [RCV002012055] | uncertain significance | 3 | 196472172 | 196472172 | Human | | name |
| 151760656 | CV1410208 | single nucleotide variant | NM_152617.4(RNF168):c.1411C>T (p.Pro471Ser) | not provided [RCV001913941] | uncertain significance | 3 | 196472124 | 196472124 | Human | | name |
| 151820681 | CV1416198 | single nucleotide variant | NM_152617.4(RNF168):c.1633A>G (p.Lys545Glu) | not provided [RCV001919537] | uncertain significance | 3 | 196471902 | 196471902 | Human | | name |
| 151879159 | CV1419239 | single nucleotide variant | NM_152617.4(RNF168):c.1037T>C (p.Met346Thr) | Inborn genetic diseases [RCV002561455]|not provided [RCV001982289] | likely benign|uncertain significance | 3 | 196472498 | 196472498 | Human | 1 | name |
| 151799666 | CV1426341 | single nucleotide variant | NM_152617.4(RNF168):c.1429C>T (p.Arg477Cys) | not provided [RCV001990832] | uncertain significance | 3 | 196472106 | 196472106 | Human | | name |
| 151760952 | CV1459580 | single nucleotide variant | NM_152617.4(RNF168):c.1072A>C (p.Thr358Pro) | not provided [RCV002044270] | uncertain significance | 3 | 196472463 | 196472463 | Human | | name |
| 151781902 | CV1468964 | single nucleotide variant | NM_152617.4(RNF168):c.1548C>G (p.Asp516Glu) | not provided [RCV002026341] | uncertain significance | 3 | 196471987 | 196471987 | Human | | name |
| 151737597 | CV1469442 | single nucleotide variant | NM_152617.4(RNF168):c.1396C>T (p.Arg466Trp) | not provided [RCV002041891] | uncertain significance | 3 | 196472139 | 196472139 | Human | | name |
| 151733432 | CV1477550 | single nucleotide variant | NM_152617.4(RNF168):c.1666A>G (p.Ser556Gly) | not provided [RCV001967346] | uncertain significance | 3 | 196471869 | 196471869 | Human | | name |
| 151720151 | CV1498265 | single nucleotide variant | NM_152617.4(RNF168):c.1429C>G (p.Arg477Gly) | not provided [RCV001965848] | uncertain significance | 3 | 196472106 | 196472106 | Human | | name |
| 151783522 | CV1500516 | single nucleotide variant | NM_152617.4(RNF168):c.1478A>G (p.Asn493Ser) | not provided [RCV001972301] | uncertain significance | 3 | 196472057 | 196472057 | Human | | name |
| 151741483 | CV1504248 | single nucleotide variant | NM_152617.4(RNF168):c.1229T>C (p.Val410Ala) | Inborn genetic diseases [RCV004656828]|not provided [RCV002022364] | uncertain significance | 3 | 196472306 | 196472306 | Human | 1 | name |
| 151790754 | CV1509140 | single nucleotide variant | NM_152617.4(RNF168):c.1009G>A (p.Val337Ile) | not provided [RCV001876491] | uncertain significance | 3 | 196472526 | 196472526 | Human | | name |
| 152095008 | CV1546066 | single nucleotide variant | NM_152617.4(RNF168):c.1275T>G (p.Phe425Leu) | not provided [RCV002132507] | benign | 3 | 196472260 | 196472260 | Human | | name |
| 155749541 | CV1773945 | single nucleotide variant | NM_152617.4(RNF168):c.1520A>G (p.His507Arg) | not provided [RCV002304758] | uncertain significance | 3 | 196472015 | 196472015 | Human | | name |
| 155944584 | CV1911198 | single nucleotide variant | NM_152617.4(RNF168):c.1012C>G (p.Pro338Ala) | not provided [RCV002615856] | uncertain significance | 3 | 196472523 | 196472523 | Human | | name |
| 156016963 | CV1912893 | single nucleotide variant | NM_152617.4(RNF168):c.1066G>A (p.Ala356Thr) | Inborn genetic diseases [RCV002602749]|not provided [RCV002619194] | likely benign|uncertain significance | 3 | 196472469 | 196472469 | Human | 1 | name |
| 156043369 | CV1926985 | single nucleotide variant | NM_152617.4(RNF168):c.1166A>G (p.Lys389Arg) | not provided [RCV002637670] | uncertain significance | 3 | 196472369 | 196472369 | Human | | name |
| 156407640 | CV1957561 | single nucleotide variant | NM_152617.4(RNF168):c.1079G>A (p.Gly360Glu) | not provided [RCV002586290] | uncertain significance | 3 | 196472456 | 196472456 | Human | | name |
| 156294433 | CV1958676 | single nucleotide variant | NM_152617.4(RNF168):c.1463A>G (p.Asn488Ser) | not provided [RCV002577957] | uncertain significance | 3 | 196472072 | 196472072 | Human | | name |
| 155965436 | CV1977953 | single nucleotide variant | NM_152617.4(RNF168):c.1706G>A (p.Cys569Tyr) | not provided [RCV002616932] | uncertain significance | 3 | 196471829 | 196471829 | Human | | name |
| 156082835 | CV1992841 | single nucleotide variant | NM_152617.4(RNF168):c.1417G>A (p.Glu473Lys) | Inborn genetic diseases [RCV004066638]|not provided [RCV002638954] | uncertain significance | 3 | 196472118 | 196472118 | Human | 1 | name |
| 155991429 | CV2027001 | single nucleotide variant | NM_152617.4(RNF168):c.1289T>C (p.Ile430Thr) | not provided [RCV002755767] | uncertain significance | 3 | 196472246 | 196472246 | Human | | name |
| 156034489 | CV2029936 | single nucleotide variant | NM_152617.4(RNF168):c.1091C>T (p.Thr364Ile) | Inborn genetic diseases [RCV003167698]|not provided [RCV002735939] | likely benign|uncertain significance | 3 | 196472444 | 196472444 | Human | 1 | name |
| 155968708 | CV2030621 | single nucleotide variant | NM_152617.4(RNF168):c.1252C>A (p.Gln418Lys) | not provided [RCV002731520] | uncertain significance | 3 | 196472283 | 196472283 | Human | | name |
| 156391317 | CV2118696 | single nucleotide variant | NM_152617.4(RNF168):c.1102A>C (p.Asn368His) | Inborn genetic diseases [RCV004958878]|not provided [RCV002943936] | uncertain significance | 3 | 196472433 | 196472433 | Human | 1 | name |
| 156077152 | CV2173565 | single nucleotide variant | NM_152617.4(RNF168):c.1045G>A (p.Gly349Ser) | not provided [RCV003053903] | uncertain significance | 3 | 196472490 | 196472490 | Human | | name |
| 156350736 | CV2189636 | single nucleotide variant | NM_152617.4(RNF168):c.1460T>C (p.Leu487Pro) | not provided [RCV003048313] | uncertain significance | 3 | 196472075 | 196472075 | Human | | name |
| 156255004 | CV2209692 | single nucleotide variant | NM_152617.4(RNF168):c.1528C>T (p.Pro510Ser) | Inborn genetic diseases [RCV002702677] | likely benign | 3 | 196472007 | 196472007 | Human | 1 | name |
| 156244314 | CV2267347 | single nucleotide variant | NM_152617.4(RNF168):c.1169A>C (p.Asn390Thr) | Inborn genetic diseases [RCV002830718] | uncertain significance | 3 | 196472366 | 196472366 | Human | 1 | name |
| 156153734 | CV2303853 | single nucleotide variant | NM_152617.4(RNF168):c.1324C>G (p.Gln442Glu) | Inborn genetic diseases [RCV002915542] | uncertain significance | 3 | 196472211 | 196472211 | Human | 1 | name |
| 156046331 | CV2315597 | single nucleotide variant | NM_152617.4(RNF168):c.1052C>T (p.Thr351Ile) | Inborn genetic diseases [RCV002924198] | uncertain significance | 3 | 196472483 | 196472483 | Human | 1 | name |
| 156014697 | CV2360169 | single nucleotide variant | NM_152617.4(RNF168):c.1538G>T (p.Gly513Val) | Inborn genetic diseases [RCV002998152] | uncertain significance | 3 | 196471997 | 196471997 | Human | 1 | name |
| 329356792 | CV2460554 | single nucleotide variant | NM_152617.4(RNF168):c.1470G>C (p.Gln490His) | Inborn genetic diseases [RCV003203448] | uncertain significance | 3 | 196472065 | 196472065 | Human | 1 | name |
| 329398592 | CV2471208 | single nucleotide variant | NM_152617.4(RNF168):c.1046G>A (p.Gly349Asp) | Inborn genetic diseases [RCV003196205] | uncertain significance | 3 | 196472489 | 196472489 | Human | 1 | name |
| 11638720 | CV268400 | single nucleotide variant | NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys) | RIDDLE syndrome [RCV003316461]|RNF168-related disorder [RCV003947873]|not provided [RCV000880094]|not specified [RCV000308774] | benign | 3 | 196472298 | 196472298 | Human | 1 | name , trait , alternate_id |
| 401933514 | CV2802212 | single nucleotide variant | NM_152617.4(RNF168):c.1606A>G (p.Met536Val) | RNF168-related disorder [RCV003393022] | uncertain significance | 3 | 196471929 | 196471929 | Human | | name , trait , alternate_id |
| 405063180 | CV2927191 | insertion | NM_152617.4(RNF168):c.94_95insC (p.Asn32fs) | not provided [RCV003580625] | pathogenic | 3 | 196503079 | 196503080 | Human | | name |
| 405195280 | CV2975798 | single nucleotide variant | NM_152617.4(RNF168):c.1058G>C (p.Ser353Thr) | not provided [RCV003677592] | uncertain significance | 3 | 196472477 | 196472477 | Human | | name |
| 402515505 | CV2991578 | single nucleotide variant | NM_152617.4(RNF168):c.1657C>A (p.Leu553Ile) | not provided [RCV003689804] | uncertain significance | 3 | 196471878 | 196471878 | Human | | name |
| 407486243 | CV3479630 | single nucleotide variant | NM_152617.4(RNF168):c.1159A>G (p.Lys387Glu) | Inborn genetic diseases [RCV004665430] | uncertain significance | 3 | 196472376 | 196472376 | Human | 1 | name |
| 597718742 | CV3590241 | single nucleotide variant | NM_152617.4(RNF168):c.1349C>T (p.Ala450Val) | Inborn genetic diseases [RCV004960182] | uncertain significance | 3 | 196472186 | 196472186 | Human | 1 | name |
| 597908553 | CV3739014 | single nucleotide variant | NM_152617.4(RNF168):c.1673C>T (p.Ser558Leu) | not provided [RCV005073249] | uncertain significance | 3 | 196471862 | 196471862 | Human | | name |
| 597871951 | CV3747093 | single nucleotide variant | NM_152617.4(RNF168):c.1130C>T (p.Ser377Leu) | not provided [RCV005068777] | uncertain significance | 3 | 196472405 | 196472405 | Human | | name |
| 597966510 | CV3751596 | single nucleotide variant | NM_152617.4(RNF168):c.1004C>G (p.Thr335Ser) | not provided [RCV005082966] | uncertain significance | 3 | 196472531 | 196472531 | Human | | name |
| 597953602 | CV3757082 | single nucleotide variant | NM_152617.4(RNF168):c.1576C>A (p.Gln526Lys) | not provided [RCV005079943] | uncertain significance | 3 | 196471959 | 196471959 | Human | | name |
| 597948039 | CV3818220 | single nucleotide variant | NM_152617.4(RNF168):c.1115C>T (p.Thr372Ile) | not provided [RCV005160481] | uncertain significance | 3 | 196472420 | 196472420 | Human | | name |
| 597865469 | CV3823331 | single nucleotide variant | NM_152617.4(RNF168):c.1631G>A (p.Cys544Tyr) | not provided [RCV005175681] | uncertain significance | 3 | 196471904 | 196471904 | Human | | name |
| 597965653 | CV3823544 | single nucleotide variant | NM_152617.4(RNF168):c.1454A>G (p.Lys485Arg) | not provided [RCV005164964] | uncertain significance | 3 | 196472081 | 196472081 | Human | | name |
| 597837483 | CV3828817 | single nucleotide variant | NM_152617.4(RNF168):c.1174G>A (p.Glu392Lys) | not provided [RCV005171510] | uncertain significance | 3 | 196472361 | 196472361 | Human | | name |
| 597900360 | CV3835365 | single nucleotide variant | NM_152617.4(RNF168):c.1711A>G (p.Lys571Glu) | not provided [RCV005181088] | uncertain significance | 3 | 196471824 | 196471824 | Human | | name |
| 12896947 | CV389582 | single nucleotide variant | NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln) | RIDDLE syndrome [RCV001796056]|not provided [RCV001509689]|not specified [RCV000456034] | benign | 3 | 196472333 | 196472333 | Human | 1 | name |
| 598231730 | CV3909497 | single nucleotide variant | NM_152617.4(RNF168):c.1438T>G (p.Ser480Ala) | Inborn genetic diseases [RCV005274548] | uncertain significance | 3 | 196472097 | 196472097 | Human | 1 | name |
| 598231734 | CV3909498 | single nucleotide variant | NM_152617.4(RNF168):c.1043G>A (p.Cys348Tyr) | Inborn genetic diseases [RCV005274549] | uncertain significance | 3 | 196472492 | 196472492 | Human | 1 | name |
| 598176782 | CV4008186 | single nucleotide variant | NM_152617.4(RNF168):c.1427T>G (p.Leu476Ter) | RIDDLE syndrome [RCV005393702] | likely pathogenic | 3 | 196472108 | 196472108 | Human | 1 | name |
| 15156877 | CV697998 | single nucleotide variant | NM_152617.4(RNF168):c.1160A>G (p.Lys387Arg) | not provided [RCV000946781] | benign | 3 | 196472375 | 196472375 | Human | | name |
| 15195653 | CV720366 | single nucleotide variant | NM_152617.4(RNF168):c.1481C>T (p.Pro494Leu) | RIDDLE syndrome [RCV003598008]|not provided [RCV000889562] | benign | 3 | 196472054 | 196472054 | Human | 1 | name |
| 15145758 | CV733986 | single nucleotide variant | NM_152617.4(RNF168):c.1132T>C (p.Cys378Arg) | RIDDLE syndrome [RCV002502651]|not provided [RCV000900212] | benign|likely benign | 3 | 196472403 | 196472403 | Human | 1 | name |
| 126730671 | CV985948 | single nucleotide variant | NM_152617.4(RNF168):c.1568T>G (p.Leu523Ter) | not provided [RCV002730106] | pathogenic|uncertain significance | 3 | 196471967 | 196471967 | Human | | name |
| 126749814 | CV989431 | single nucleotide variant | NM_152617.4(RNF168):c.1348G>C (p.Ala450Pro) | not provided [RCV001297205] | uncertain significance | 3 | 196472187 | 196472187 | Human | | name |
| 126762139 | CV989432 | single nucleotide variant | NM_152617.4(RNF168):c.1085C>T (p.Thr362Ile) | not provided [RCV001309802] | uncertain significance | 3 | 196472450 | 196472450 | Human | | name |
| 151711652 | CV1340784 | deletion | NM_152617.4(RNF168):c.194_198del (p.His65fs) | not provided [RCV002002097] | pathogenic | 3 | 196502976 | 196502980 | Human | | name |
| 151798417 | CV1376643 | deletion | NM_152617.4(RNF168):c.150_151del (p.Cys50fs) | not provided [RCV001932078] | pathogenic | 3 | 196503023 | 196503024 | Human | | name |
| 126744390 | CV1019806 | deletion | NM_152617.4(RNF168):c.659_662del (p.Arg220fs) | RIDDLE syndrome [RCV001783685]|not provided [RCV001868868] | pathogenic|likely pathogenic | 3 | 196483788 | 196483791 | Human | 1 | name |
| 155955322 | CV1876683 | microsatellite | NM_152617.4(RNF168):c.655_658del (p.Gln219fs) | not provided [RCV003074380] | pathogenic | 3 | 196483792 | 196483795 | Human | | name |
| 156322724 | CV1877322 | deletion | NM_152617.4(RNF168):c.477_480del (p.Ala161fs) | not provided [RCV003063180] | pathogenic | 3 | 196487477 | 196487480 | Human | | name |
| 402505640 | CV2884461 | microsatellite | NM_152617.4(RNF168):c.350_351del (p.Arg117fs) | not provided [RCV003546335] | pathogenic | 3 | 196488634 | 196488635 | Human | | name |
| 597877227 | CV3860232 | deletion | NM_152617.4(RNF168):c.975_976del (p.Val327fs) | not provided [RCV005198441] | pathogenic | 3 | 196472559 | 196472560 | Human | | name |
| 126726103 | CV1016224 | deletion | NM_152617.4(RNF168):c.1264_1265del (p.Glu422fs) | Riddle syndrome [RCV001331781] | pathogenic | 3 | 196472270 | 196472271 | Human | | name |
| 151726142 | CV1433434 | deletion | NM_152617.4(RNF168):c.1454_1455del (p.Lys485fs) | not provided [RCV001983702] | uncertain significance | 3 | 196472080 | 196472081 | Human | | name |
| 151860542 | CV1452283 | deletion | NM_152617.4(RNF168):c.1426_1429del (p.Leu476fs) | not provided [RCV002017702] | uncertain significance | 3 | 196472106 | 196472109 | Human | | name |
| 8555655 | CV15527 | deletion | NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs) | RIDDLE syndrome [RCV000000517]|not provided [RCV005089137] | pathogenic|likely pathogenic | 3 | 196472209 | 196472212 | Human | 1 | name |
| 156402477 | CV1908125 | microsatellite | NM_152617.4(RNF168):c.1536_1537del (p.Gly513fs) | Inborn genetic diseases [RCV002585036]|not provided [RCV002585035] | uncertain significance | 3 | 196471998 | 196471999 | Human | | name |
| 597944920 | CV3779508 | deletion | NM_152617.4(RNF168):c.1214_1230del (p.Ala405fs) | not provided [RCV005134472] | pathogenic | 3 | 196472305 | 196472321 | Human | | name |
| 597900095 | CV3850894 | deletion | NM_152617.4(RNF168):c.1290_1293del (p.Asp431fs) | not provided [RCV005201878] | pathogenic | 3 | 196472242 | 196472245 | Human | | name |
| 151737929 | CV1500552 | indel | NM_152617.4(RNF168):c.73_74delinsAG (p.Glu25Arg) | not provided [RCV001984943] | uncertain significance | 3 | 196503100 | 196503101 | Human | | name |
| 153000560 | CV1683142 | deletion | NM_152617.4(RNF168):c.1150_1152del (p.Glu384del) | See cases [RCV002253152] | uncertain significance | 3 | 196472383 | 196472385 | Human | | name |
| 151731971 | CV1355544 | indel | NM_152617.4(RNF168):c.754_755delinsAG (p.Val252Arg) | not provided [RCV001984301] | uncertain significance | 3 | 196475238 | 196475239 | Human | | name |
| 151891076 | CV1473259 | microsatellite | NM_152617.4(RNF168):c.640_644del (p.Lys213_Lys214insTer) | not provided [RCV001888590] | pathogenic | 3 | 196483806 | 196483810 | Human | | name |
| 151742374 | CV1519338 | duplication | NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer) | RIDDLE syndrome [RCV002053871] | uncertain significance | 3 | 196471940 | 196471941 | Human | 1 | name |
| 126757652 | CV989433 | deletion | NM_152617.4(RNF168):c.368_370del (p.Glu123_Ile124delinsVal) | not provided [RCV001298951] | uncertain significance | 3 | 196488615 | 196488617 | Human | | name |