| 151863244 | CV1365225 | single nucleotide variant | NM_002095.6(GTF2E2):c.549+6C>T | not provided [RCV002018028] | uncertain significance | 8 | 30612293 | 30612293 | Human | | name |
| 152040845 | CV1553377 | single nucleotide variant | NM_002095.6(GTF2E2):c.167-4G>A | not provided [RCV002087938] | likely benign | 8 | 30635127 | 30635127 | Human | | name |
| 152097083 | CV1587035 | single nucleotide variant | NM_002095.6(GTF2E2):c.759+8A>G | not provided [RCV002078495] | likely benign | 8 | 30580273 | 30580273 | Human | | name |
| 152098003 | CV1600069 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+8C>G | not provided [RCV002151443] | likely benign | 8 | 30635024 | 30635024 | Human | | name |
| 156290175 | CV1897412 | single nucleotide variant | NM_002095.6(GTF2E2):c.759+4C>T | not provided [RCV002598721] | uncertain significance | 8 | 30580277 | 30580277 | Human | | name |
| 405198661 | CV2876816 | single nucleotide variant | NM_002095.6(GTF2E2):c.167-8A>T | not provided [RCV003551159] | likely benign | 8 | 30635131 | 30635131 | Human | | name |
| 405090039 | CV2937318 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+7A>G | not provided [RCV003665222] | likely benign | 8 | 30635025 | 30635025 | Human | | name |
| 598225823 | CV3895688 | single nucleotide variant | NM_002095.6(GTF2E2):c.549+4A>G | Trichothiodystrophy 6, nonphotosensitive [RCV005362002] | uncertain significance | 8 | 30612295 | 30612295 | Human | 1 | name |
| 15155612 | CV730563 | single nucleotide variant | NM_002095.6(GTF2E2):c.549+5T>C | GTF2E2-related disorder [RCV003930510]|not provided [RCV000880453] | benign|likely benign | 8 | 30612294 | 30612294 | Human | 1 | name , trait , alternate_id |
| 127319898 | CV1155954 | single nucleotide variant | NM_002095.6(GTF2E2):c.549+11T>G | Trichothiodystrophy 6, nonphotosensitive [RCV001702910]|not provided [RCV001522367] | benign | 8 | 30612288 | 30612288 | Human | 1 | name |
| 150333832 | CV1169282 | duplication | NM_002095.6(GTF2E2):c.550-66dup | not provided [RCV001537502] | benign | 8 | 30607202 | 30607203 | Human | | name |
| 150506456 | CV1226351 | single nucleotide variant | NM_002095.6(GTF2E2):c.-4-181G>A | not provided [RCV001635719] | benign | 8 | 30653783 | 30653783 | Human | | name |
| 150461795 | CV1263275 | deletion | NM_002095.6(GTF2E2):c.550-53del | not provided [RCV001682272] | benign | 8 | 30607203 | 30607203 | Human | | name |
| 152111332 | CV1552402 | single nucleotide variant | NM_002095.6(GTF2E2):c.550-11C>A | not provided [RCV002134523] | likely benign | 8 | 30607161 | 30607161 | Human | | name |
| 152172138 | CV1598997 | single nucleotide variant | NM_002095.6(GTF2E2):c.366+16A>G | not provided [RCV002143675] | likely benign | 8 | 30614592 | 30614592 | Human | | name |
| 152063413 | CV1612075 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+13C>T | not provided [RCV002128628] | likely benign | 8 | 30635019 | 30635019 | Human | | name |
| 152054670 | CV1648543 | single nucleotide variant | NM_002095.6(GTF2E2):c.549+14T>C | not provided [RCV002072785] | likely benign | 8 | 30612285 | 30612285 | Human | | name |
| 156143756 | CV1957437 | single nucleotide variant | NM_002095.6(GTF2E2):c.367-18A>G | not provided [RCV002572664] | uncertain significance | 8 | 30612499 | 30612499 | Human | | name |
| 156346318 | CV1989124 | single nucleotide variant | NM_002095.6(GTF2E2):c.550-10T>C | not provided [RCV002631700] | likely benign | 8 | 30607160 | 30607160 | Human | | name |
| 156372565 | CV2028210 | single nucleotide variant | NM_002095.6(GTF2E2):c.366+11A>C | not provided [RCV002721645] | likely benign | 8 | 30614597 | 30614597 | Human | | name |
| 155976645 | CV2062804 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+11T>C | not provided [RCV002842321] | likely benign | 8 | 30635021 | 30635021 | Human | | name |
| 156376286 | CV2124151 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+17G>C | not provided [RCV002942743] | likely benign | 8 | 30635015 | 30635015 | Human | | name |
| 402505038 | CV2879892 | single nucleotide variant | NM_002095.6(GTF2E2):c.166+16T>G | not provided [RCV003546175] | likely benign | 8 | 30653417 | 30653417 | Human | | name |
| 405219738 | CV2904061 | single nucleotide variant | NM_002095.6(GTF2E2):c.366+20T>C | not provided [RCV003568250] | likely benign | 8 | 30614588 | 30614588 | Human | | name |
| 405069181 | CV2936821 | single nucleotide variant | NM_002095.6(GTF2E2):c.760-19T>G | not provided [RCV003659249] | likely benign | 8 | 30579056 | 30579056 | Human | | name |
| 405101684 | CV2942067 | single nucleotide variant | NM_002095.6(GTF2E2):c.166+13G>C | not provided [RCV003666261] | likely benign | 8 | 30653420 | 30653420 | Human | | name |
| 405206072 | CV3117075 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+18A>C | not provided [RCV003822559] | likely benign | 8 | 30635014 | 30635014 | Human | | name |
| 405008677 | CV3118324 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+13C>G | not provided [RCV003828754] | likely benign | 8 | 30635019 | 30635019 | Human | | name |
| 404982784 | CV3121431 | single nucleotide variant | NM_002095.6(GTF2E2):c.367-13A>G | not provided [RCV003826230] | likely benign | 8 | 30612494 | 30612494 | Human | | name |
| 405096292 | CV3148016 | single nucleotide variant | NM_002095.6(GTF2E2):c.759+16C>T | not provided [RCV003852646] | likely benign | 8 | 30580265 | 30580265 | Human | | name |
| 405185122 | CV3152758 | single nucleotide variant | NM_002095.6(GTF2E2):c.644-16T>G | not provided [RCV003842749] | likely benign | 8 | 30580412 | 30580412 | Human | | name |
| 597845876 | CV3736387 | single nucleotide variant | NM_002095.6(GTF2E2):c.167-15G>T | not provided [RCV005059965] | likely benign | 8 | 30635138 | 30635138 | Human | | name |
| 597887120 | CV3741896 | single nucleotide variant | NM_002095.6(GTF2E2):c.258+16A>G | not provided [RCV005070616] | likely benign | 8 | 30635016 | 30635016 | Human | | name |
| 597868045 | CV3742852 | single nucleotide variant | NM_002095.6(GTF2E2):c.367-11C>A | not provided [RCV005068275] | likely benign | 8 | 30612492 | 30612492 | Human | | name |
| 597852629 | CV3743418 | single nucleotide variant | NM_002095.6(GTF2E2):c.760-12C>T | not provided [RCV005060768] | likely benign | 8 | 30579049 | 30579049 | Human | | name |
| 597940533 | CV3772801 | deletion | NM_002095.6(GTF2E2):c.258+12del | not provided [RCV005118431] | benign | 8 | 30635020 | 30635020 | Human | | name |
| 597881441 | CV3826523 | single nucleotide variant | NM_002095.6(GTF2E2):c.259-17A>G | not provided [RCV005178220] | likely benign | 8 | 30614732 | 30614732 | Human | | name |
| 597976335 | CV3829369 | single nucleotide variant | NM_002095.6(GTF2E2):c.643+18A>G | not provided [RCV005169818] | likely benign | 8 | 30607039 | 30607039 | Human | | name |
| 15171089 | CV744415 | single nucleotide variant | NM_002095.6(GTF2E2):c.366+10T>G | not provided [RCV000905396] | benign | 8 | 30614598 | 30614598 | Human | | name |
| 150500931 | CV1223597 | single nucleotide variant | NM_002095.6(GTF2E2):c.367-120T>C | not provided [RCV001620718] | benign | 8 | 30612601 | 30612601 | Human | | name |
| 150514307 | CV1228155 | single nucleotide variant | NM_002095.6(GTF2E2):c.550-125A>T | not provided [RCV001638433] | benign | 8 | 30607275 | 30607275 | Human | | name |
| 150488675 | CV1250418 | single nucleotide variant | NM_002095.6(GTF2E2):c.760-298G>A | not provided [RCV001674378] | benign | 8 | 30579335 | 30579335 | Human | | name |
| 150465924 | CV1257272 | single nucleotide variant | NM_002095.6(GTF2E2):c.760-225G>A | not provided [RCV001670287] | benign | 8 | 30579262 | 30579262 | Human | | name |
| 150489591 | CV1267468 | deletion | NM_002095.6(GTF2E2):c.259-335del | not provided [RCV001687491] | benign | 8 | 30615050 | 30615050 | Human | | name |
| 150459769 | CV1268388 | single nucleotide variant | NM_002095.6(GTF2E2):c.549+102A>G | not provided [RCV001693385] | benign | 8 | 30612197 | 30612197 | Human | | name |
| 150443957 | CV1277926 | single nucleotide variant | NM_002095.6(GTF2E2):c.759+159G>A | not provided [RCV001707069] | benign | 8 | 30580122 | 30580122 | Human | | name |
| 150490056 | CV1279439 | single nucleotide variant | NM_002095.6(GTF2E2):c.367-108A>G | not provided [RCV001716403] | benign | 8 | 30612589 | 30612589 | Human | | name |
| 597951717 | CV3756510 | microsatellite | NM_002095.6(GTF2E2):c.550-9_550-6del | not provided [RCV005079567] | likely benign | 8 | 30607156 | 30607159 | Human | | name |
| 405154042 | CV2949369 | single nucleotide variant | NM_002095.6(GTF2E2):c.13C>T (p.Leu5=) | not provided [RCV003674209] | likely benign | 8 | 30653586 | 30653586 | Human | | name |
| 152147260 | CV1609826 | single nucleotide variant | NM_002095.6(GTF2E2):c.30G>A (p.Glu10=) | not provided [RCV002157623] | likely benign | 8 | 30653569 | 30653569 | Human | | name |
| 152173792 | CV1567220 | single nucleotide variant | NM_002095.6(GTF2E2):c.144G>A (p.Ser48=) | not provided [RCV002144229] | benign|likely benign | 8 | 30653455 | 30653455 | Human | | name |
| 152134238 | CV1576369 | single nucleotide variant | NM_002095.6(GTF2E2):c.264G>A (p.Arg88=) | GTF2E2-related disorder [RCV003958666]|not provided [RCV002119482] | likely benign | 8 | 30614710 | 30614710 | Human | 1 | name , trait , alternate_id |
| 152162302 | CV1584788 | single nucleotide variant | NM_002095.6(GTF2E2):c.213T>C (p.Ser71=) | not provided [RCV002123423] | likely benign | 8 | 30635077 | 30635077 | Human | | name |
| 152105056 | CV1609432 | single nucleotide variant | NM_002095.6(GTF2E2):c.198T>C (p.Ala66=) | not provided [RCV002115832] | benign | 8 | 30635092 | 30635092 | Human | | name |
| 152120671 | CV1657512 | single nucleotide variant | NM_002095.6(GTF2E2):c.282G>A (p.Thr94=) | not provided [RCV002216726] | likely benign | 8 | 30614692 | 30614692 | Human | | name |
| 156397082 | CV1985292 | single nucleotide variant | NM_002095.6(GTF2E2):c.105G>A (p.Ser35=) | not provided [RCV002635595] | likely benign | 8 | 30653494 | 30653494 | Human | | name |
| 156349256 | CV2008491 | single nucleotide variant | NM_002095.6(GTF2E2):c.201G>A (p.Leu67=) | not provided [RCV002720064] | likely benign | 8 | 30635089 | 30635089 | Human | | name |
| 156347315 | CV2051976 | single nucleotide variant | NM_002095.6(GTF2E2):c.222G>A (p.Lys74=) | not provided [RCV002811534] | likely benign | 8 | 30635068 | 30635068 | Human | | name |
| 155942555 | CV2072274 | single nucleotide variant | NM_002095.6(GTF2E2):c.102A>G (p.Ser34=) | not provided [RCV002861875] | likely benign | 8 | 30653497 | 30653497 | Human | | name |
| 402470850 | CV2904316 | single nucleotide variant | NM_002095.6(GTF2E2):c.267T>C (p.His89=) | not provided [RCV003570450] | likely benign | 8 | 30614707 | 30614707 | Human | | name |
| 405079597 | CV2945488 | single nucleotide variant | NM_002095.6(GTF2E2):c.180A>G (p.Gly60=) | not provided [RCV003664490] | likely benign | 8 | 30635110 | 30635110 | Human | | name |
| 405082410 | CV3017020 | single nucleotide variant | NM_002095.6(GTF2E2):c.237T>G (p.Ala79=) | not provided [RCV003699143] | likely benign | 8 | 30635053 | 30635053 | Human | | name |
| 404988317 | CV3179864 | single nucleotide variant | NM_002095.6(GTF2E2):c.144G>C (p.Ser48=) | not provided [RCV003881341] | likely benign | 8 | 30653455 | 30653455 | Human | | name |
| 597919424 | CV3737959 | single nucleotide variant | NM_002095.6(GTF2E2):c.252C>T (p.Tyr84=) | not provided [RCV005074558] | likely benign | 8 | 30635038 | 30635038 | Human | | name |
| 15154825 | CV736617 | single nucleotide variant | NM_002095.6(GTF2E2):c.135T>C (p.His45=) | GTF2E2-related disorder [RCV003968262]|not provided [RCV000902027] | likely benign | 8 | 30653464 | 30653464 | Human | 1 | name , trait , alternate_id |
| 127321515 | CV1139403 | single nucleotide variant | NM_002095.6(GTF2E2):c.568C>T (p.Leu190=) | not provided [RCV001484552] | likely benign | 8 | 30607132 | 30607132 | Human | | name |
| 151841786 | CV1423828 | single nucleotide variant | NM_002095.6(GTF2E2):c.58C>G (p.Pro20Ala) | not provided [RCV001977784] | uncertain significance | 8 | 30653541 | 30653541 | Human | | name |
| 151868148 | CV1446115 | single nucleotide variant | NM_002095.6(GTF2E2):c.74G>A (p.Arg25His) | not provided [RCV001997987] | uncertain significance | 8 | 30653525 | 30653525 | Human | | name |
| 152062832 | CV1563381 | single nucleotide variant | NM_002095.6(GTF2E2):c.849T>C (p.Asp283=) | not provided [RCV002190738] | likely benign | 8 | 30578948 | 30578948 | Human | | name |
| 152092824 | CV1567860 | single nucleotide variant | NM_002095.6(GTF2E2):c.451C>T (p.Leu151=) | not provided [RCV002212964] | likely benign | 8 | 30612397 | 30612397 | Human | | name |
| 152053517 | CV1575060 | single nucleotide variant | NM_002095.6(GTF2E2):c.687C>T (p.Asp229=) | not provided [RCV002109269] | likely benign | 8 | 30580353 | 30580353 | Human | | name |
| 152080728 | CV1580072 | single nucleotide variant | NM_002095.6(GTF2E2):c.657G>A (p.Leu219=) | not provided [RCV002076331] | likely benign | 8 | 30580383 | 30580383 | Human | | name |
| 152170023 | CV1592224 | single nucleotide variant | NM_002095.6(GTF2E2):c.420G>A (p.Lys140=) | not provided [RCV002161632] | likely benign | 8 | 30612428 | 30612428 | Human | | name |
| 152139554 | CV1608238 | single nucleotide variant | NM_002095.6(GTF2E2):c.318A>C (p.Thr106=) | not provided [RCV002200400] | likely benign | 8 | 30614656 | 30614656 | Human | | name |
| 152104915 | CV1633913 | single nucleotide variant | NM_002095.6(GTF2E2):c.546C>T (p.Val182=) | not provided [RCV002196024] | likely benign | 8 | 30612302 | 30612302 | Human | | name |
| 156414352 | CV1916023 | single nucleotide variant | NM_002095.6(GTF2E2):c.450C>G (p.Ala150=) | not provided [RCV002588560] | likely benign | 8 | 30612398 | 30612398 | Human | | name |
| 156299108 | CV2001879 | single nucleotide variant | NM_002095.6(GTF2E2):c.822C>T (p.Asn274=) | not provided [RCV002671079] | likely benign | 8 | 30578975 | 30578975 | Human | | name |
| 156328947 | CV2065031 | single nucleotide variant | NM_002095.6(GTF2E2):c.375C>G (p.Val125=) | not provided [RCV002835181] | likely benign | 8 | 30612473 | 30612473 | Human | | name |
| 156000401 | CV2074588 | single nucleotide variant | NM_002095.6(GTF2E2):c.453A>G (p.Leu151=) | not provided [RCV002843378] | likely benign | 8 | 30612395 | 30612395 | Human | | name |
| 402499143 | CV2871964 | single nucleotide variant | NM_002095.6(GTF2E2):c.351A>G (p.Gln117=) | not provided [RCV003545722] | likely benign | 8 | 30614623 | 30614623 | Human | | name |
| 405120132 | CV2957647 | single nucleotide variant | NM_002095.6(GTF2E2):c.477C>T (p.Asp159=) | not provided [RCV003667356] | likely benign | 8 | 30612371 | 30612371 | Human | | name |
| 405120461 | CV3027065 | single nucleotide variant | NM_002095.6(GTF2E2):c.750A>G (p.Pro250=) | not provided [RCV003700643] | likely benign | 8 | 30580290 | 30580290 | Human | | name |
| 405253790 | CV3044994 | single nucleotide variant | NM_002095.6(GTF2E2):c.528C>T (p.Pro176=) | not provided [RCV003722695] | likely benign | 8 | 30612320 | 30612320 | Human | | name |
| 404976973 | CV3117451 | single nucleotide variant | NM_002095.6(GTF2E2):c.561C>T (p.Asp187=) | not provided [RCV003825223] | likely benign | 8 | 30607139 | 30607139 | Human | | name |
| 405114606 | CV3133811 | single nucleotide variant | NM_002095.6(GTF2E2):c.432C>T (p.Asn144=) | not provided [RCV003836606] | likely benign | 8 | 30612416 | 30612416 | Human | | name |
| 405117273 | CV3134281 | single nucleotide variant | NM_002095.6(GTF2E2):c.678T>C (p.Asp226=) | not provided [RCV003836883] | likely benign | 8 | 30580362 | 30580362 | Human | | name |
| 597662394 | CV3688754 | single nucleotide variant | NM_002095.6(GTF2E2):c.38A>G (p.Lys13Arg) | Inborn genetic diseases [RCV004977764] | likely benign | 8 | 30653561 | 30653561 | Human | 1 | name |
| 597955664 | CV3787168 | single nucleotide variant | NM_002095.6(GTF2E2):c.841C>T (p.Leu281=) | not provided [RCV005122053] | likely benign | 8 | 30578956 | 30578956 | Human | | name |
| 597949785 | CV3814766 | single nucleotide variant | NM_002095.6(GTF2E2):c.705A>G (p.Glu235=) | not provided [RCV005160907] | likely benign | 8 | 30580335 | 30580335 | Human | | name |
| 15187025 | CV736616 | single nucleotide variant | NM_002095.6(GTF2E2):c.370T>C (p.Leu124=) | not provided [RCV000908976] | likely benign | 8 | 30612478 | 30612478 | Human | | name |
| 15129171 | CV751095 | single nucleotide variant | NM_002095.6(GTF2E2):c.585C>T (p.Pro195=) | not provided [RCV000919780] | likely benign | 8 | 30607115 | 30607115 | Human | | name |
| 15103656 | CV751096 | single nucleotide variant | NM_002095.6(GTF2E2):c.525G>T (p.Leu175=) | not provided [RCV000915205] | likely benign | 8 | 30612323 | 30612323 | Human | | name |
| 126749313 | CV992738 | single nucleotide variant | NM_002095.6(GTF2E2):c.73C>T (p.Arg25Cys) | Inborn genetic diseases [RCV003166658]|not provided [RCV001297111] | uncertain significance | 8 | 30653526 | 30653526 | Human | 1 | name |
| 126760081 | CV1028481 | single nucleotide variant | NM_002095.6(GTF2E2):c.272G>A (p.Arg91Gln) | not provided [RCV001340310] | uncertain significance | 8 | 30614702 | 30614702 | Human | | name |
| 151779162 | CV1352214 | single nucleotide variant | NM_002095.6(GTF2E2):c.109A>G (p.Lys37Glu) | not provided [RCV002009576] | uncertain significance | 8 | 30653490 | 30653490 | Human | | name |
| 151798003 | CV1376566 | single nucleotide variant | NM_002095.6(GTF2E2):c.103T>A (p.Ser35Thr) | not provided [RCV001932039] | uncertain significance | 8 | 30653496 | 30653496 | Human | | name |
| 151892866 | CV1411532 | single nucleotide variant | NM_002095.6(GTF2E2):c.142T>C (p.Ser48Pro) | not provided [RCV001944558] | uncertain significance | 8 | 30653457 | 30653457 | Human | | name |
| 151787441 | CV1416707 | single nucleotide variant | NM_002095.6(GTF2E2):c.143C>T (p.Ser48Leu) | not provided [RCV001989732] | uncertain significance | 8 | 30653456 | 30653456 | Human | | name |
| 151868174 | CV1446117 | single nucleotide variant | NM_002095.6(GTF2E2):c.101C>T (p.Ser34Leu) | not provided [RCV001997989] | uncertain significance | 8 | 30653498 | 30653498 | Human | | name |
| 151774149 | CV1461887 | single nucleotide variant | NM_002095.6(GTF2E2):c.127G>T (p.Val43Leu) | not provided [RCV001950448] | uncertain significance | 8 | 30653472 | 30653472 | Human | | name |
| 156313391 | CV1913793 | single nucleotide variant | NM_002095.6(GTF2E2):c.124A>C (p.Lys42Gln) | not provided [RCV002599792] | uncertain significance | 8 | 30653475 | 30653475 | Human | | name |
| 156352897 | CV1923720 | single nucleotide variant | NM_002095.6(GTF2E2):c.184T>A (p.Phe62Ile) | Inborn genetic diseases [RCV004070750]|not provided [RCV002651032] | uncertain significance | 8 | 30635106 | 30635106 | Human | 1 | name |
| 156413041 | CV1968923 | single nucleotide variant | NM_002095.6(GTF2E2):c.140G>C (p.Gly47Ala) | Inborn genetic diseases [RCV004065754]|not provided [RCV002608721] | uncertain significance | 8 | 30653459 | 30653459 | Human | 1 | name |
| 156077136 | CV1979329 | single nucleotide variant | NM_002095.6(GTF2E2):c.281C>T (p.Thr94Met) | not provided [RCV002621424] | uncertain significance | 8 | 30614693 | 30614693 | Human | | name |
| 156232125 | CV2184128 | single nucleotide variant | NM_002095.6(GTF2E2):c.137G>C (p.Gly46Ala) | not provided [RCV003043126] | uncertain significance | 8 | 30653462 | 30653462 | Human | | name |
| 156164501 | CV2184631 | single nucleotide variant | NM_002095.6(GTF2E2):c.146C>G (p.Ser49Ter) | not provided [RCV003057027] | uncertain significance | 8 | 30653453 | 30653453 | Human | | name |
| 156139476 | CV2202908 | single nucleotide variant | NM_002095.6(GTF2E2):c.266A>G (p.His89Arg) | Inborn genetic diseases [RCV002641186] | uncertain significance | 8 | 30614708 | 30614708 | Human | 1 | name |
| 156166641 | CV2243625 | single nucleotide variant | NM_002095.6(GTF2E2):c.262C>T (p.Arg88Trp) | Inborn genetic diseases [RCV002787819] | uncertain significance | 8 | 30614712 | 30614712 | Human | 1 | name |
| 156072516 | CV2325336 | single nucleotide variant | NM_002095.6(GTF2E2):c.191T>G (p.Leu64Trp) | Inborn genetic diseases [RCV002925700] | uncertain significance | 8 | 30635099 | 30635099 | Human | 1 | name |
| 405718798 | CV3255474 | single nucleotide variant | NM_002095.6(GTF2E2):c.189C>G (p.Asn63Lys) | Inborn genetic diseases [RCV004388431] | uncertain significance | 8 | 30635101 | 30635101 | Human | 1 | name |
| 597690007 | CV3688752 | single nucleotide variant | NM_002095.6(GTF2E2):c.104C>T (p.Ser35Leu) | Inborn genetic diseases [RCV004985643] | uncertain significance | 8 | 30653495 | 30653495 | Human | 1 | name |
| 597662387 | CV3688753 | single nucleotide variant | NM_002095.6(GTF2E2):c.202T>C (p.Ser68Pro) | Inborn genetic diseases [RCV004977763] | uncertain significance | 8 | 30635088 | 30635088 | Human | 1 | name |
| 126747238 | CV992737 | single nucleotide variant | NM_002095.6(GTF2E2):c.277G>A (p.Asp93Asn) | not provided [RCV001296699] | uncertain significance | 8 | 30614697 | 30614697 | Human | | name |
| 126748899 | CV1007969 | single nucleotide variant | NM_002095.6(GTF2E2):c.433G>A (p.Val145Met) | Inborn genetic diseases [RCV005348442]|not provided [RCV001326429] | uncertain significance | 8 | 30612415 | 30612415 | Human | 1 | name |
| 126755505 | CV1007970 | single nucleotide variant | NM_002095.6(GTF2E2):c.398T>C (p.Ile133Thr) | GTF2E2-related disorder [RCV003945991]|not provided [RCV001316956] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 30612450 | 30612450 | Human | 1 | name , trait , alternate_id |
| 126774078 | CV1028480 | single nucleotide variant | NM_002095.6(GTF2E2):c.548A>T (p.Lys183Met) | not provided [RCV001346806] | uncertain significance | 8 | 30612300 | 30612300 | Human | | name |
| 151854800 | CV1344430 | single nucleotide variant | NM_002095.6(GTF2E2):c.590A>G (p.Lys197Arg) | Inborn genetic diseases [RCV003167151]|not provided [RCV001923256] | uncertain significance | 8 | 30607110 | 30607110 | Human | 1 | name |
| 151858359 | CV1347628 | single nucleotide variant | NM_002095.6(GTF2E2):c.403G>A (p.Gly135Arg) | not provided [RCV002034058] | uncertain significance | 8 | 30612445 | 30612445 | Human | | name |
| 151840887 | CV1361181 | single nucleotide variant | NM_002095.6(GTF2E2):c.484G>A (p.Gly162Arg) | not provided [RCV001881338] | uncertain significance | 8 | 30612364 | 30612364 | Human | | name |
| 151885747 | CV1418157 | single nucleotide variant | NM_002095.6(GTF2E2):c.766A>G (p.Ile256Val) | not provided [RCV001887418] | uncertain significance | 8 | 30579031 | 30579031 | Human | | name |
| 151783778 | CV1435139 | single nucleotide variant | NM_002095.6(GTF2E2):c.749C>G (p.Pro250Arg) | not provided [RCV001916119] | uncertain significance | 8 | 30580291 | 30580291 | Human | | name |
| 151783917 | CV1435156 | single nucleotide variant | NM_002095.6(GTF2E2):c.673G>A (p.Val225Ile) | not provided [RCV001916131] | uncertain significance | 8 | 30580367 | 30580367 | Human | | name |
| 151835651 | CV1436305 | single nucleotide variant | NM_002095.6(GTF2E2):c.866C>G (p.Ser289Cys) | not provided [RCV002014757] | uncertain significance | 8 | 30578931 | 30578931 | Human | | name |
| 151827375 | CV1447376 | single nucleotide variant | NM_002095.6(GTF2E2):c.412G>A (p.Ala138Thr) | Inborn genetic diseases [RCV004980784]|not provided [RCV001870192] | uncertain significance | 8 | 30612436 | 30612436 | Human | 1 | name |
| 151751792 | CV1457364 | single nucleotide variant | NM_002095.6(GTF2E2):c.533C>T (p.Ser178Phe) | not provided [RCV001913055] | uncertain significance | 8 | 30612315 | 30612315 | Human | | name |
| 151709015 | CV1460905 | single nucleotide variant | NM_002095.6(GTF2E2):c.377A>G (p.Asn126Ser) | not provided [RCV001888973] | uncertain significance | 8 | 30612471 | 30612471 | Human | | name |
| 151809241 | CV1483636 | single nucleotide variant | NM_002095.6(GTF2E2):c.688G>A (p.Glu230Lys) | not provided [RCV001918438] | uncertain significance | 8 | 30580352 | 30580352 | Human | | name |
| 151722622 | CV1498131 | single nucleotide variant | NM_002095.6(GTF2E2):c.832G>T (p.Ala278Ser) | Inborn genetic diseases [RCV005350801]|not provided [RCV001983298] | uncertain significance | 8 | 30578965 | 30578965 | Human | 1 | name |
| 151764489 | CV1499367 | single nucleotide variant | NM_002095.6(GTF2E2):c.473A>G (p.His158Arg) | Inborn genetic diseases [RCV004988792]|not provided [RCV001873840] | uncertain significance | 8 | 30612375 | 30612375 | Human | 1 | name |
| 156374801 | CV1899226 | single nucleotide variant | NM_002095.6(GTF2E2):c.400G>A (p.Asp134Asn) | not provided [RCV003092771] | uncertain significance | 8 | 30612448 | 30612448 | Human | | name |
| 156416154 | CV1966496 | single nucleotide variant | NM_002095.6(GTF2E2):c.806G>A (p.Arg269His) | not provided [RCV002589555] | uncertain significance | 8 | 30578991 | 30578991 | Human | | name |
| 156127798 | CV1969512 | single nucleotide variant | NM_002095.6(GTF2E2):c.481C>T (p.Arg161Ter) | not provided [RCV002593377] | uncertain significance | 8 | 30612367 | 30612367 | Human | | name |
| 156322703 | CV1976272 | single nucleotide variant | NM_002095.6(GTF2E2):c.530A>G (p.Asn177Ser) | not provided [RCV002600335] | uncertain significance | 8 | 30612318 | 30612318 | Human | | name |
| 156092620 | CV2016475 | single nucleotide variant | NM_002095.6(GTF2E2):c.679T>G (p.Ser227Ala) | not provided [RCV002706369] | uncertain significance | 8 | 30580361 | 30580361 | Human | | name |
| 156234887 | CV2021505 | single nucleotide variant | NM_002095.6(GTF2E2):c.803G>A (p.Arg268Gln) | not provided [RCV002745448] | uncertain significance | 8 | 30578994 | 30578994 | Human | | name |
| 156200146 | CV2092458 | single nucleotide variant | NM_002095.6(GTF2E2):c.695A>C (p.Lys232Thr) | not provided [RCV002917758] | uncertain significance | 8 | 30580345 | 30580345 | Human | | name |
| 156238769 | CV2115743 | single nucleotide variant | NM_002095.6(GTF2E2):c.805C>T (p.Arg269Cys) | not provided [RCV002919218] | uncertain significance | 8 | 30578992 | 30578992 | Human | | name |
| 156006910 | CV2175591 | single nucleotide variant | NM_002095.6(GTF2E2):c.568C>G (p.Leu190Val) | not provided [RCV003035039] | uncertain significance | 8 | 30607132 | 30607132 | Human | | name |
| 156197434 | CV2182616 | single nucleotide variant | NM_002095.6(GTF2E2):c.845A>G (p.Lys282Arg) | not provided [RCV003024335] | uncertain significance | 8 | 30578952 | 30578952 | Human | | name |
| 156366734 | CV2192409 | single nucleotide variant | NM_002095.6(GTF2E2):c.526C>T (p.Pro176Ser) | not provided [RCV003065998] | uncertain significance | 8 | 30612322 | 30612322 | Human | | name |
| 156015054 | CV2269774 | single nucleotide variant | NM_002095.6(GTF2E2):c.604T>C (p.Phe202Leu) | Inborn genetic diseases [RCV002844105] | uncertain significance | 8 | 30607096 | 30607096 | Human | 1 | name |
| 11087911 | CV227654 | single nucleotide variant | NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) | Trichothiodystrophy 6, nonphotosensitive [RCV000211060] | pathogenic | 8 | 30612400 | 30612400 | Human | 1 | name |
| 11087913 | CV227655 | single nucleotide variant | NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) | Trichothiodystrophy 6, nonphotosensitive [RCV000211077] | pathogenic | 8 | 30607141 | 30607141 | Human | 1 | name |
| 405117467 | CV3134332 | single nucleotide variant | NM_002095.6(GTF2E2):c.394G>A (p.Val132Ile) | not provided [RCV003836934] | uncertain significance | 8 | 30612454 | 30612454 | Human | | name |
| 407464328 | CV3433515 | single nucleotide variant | NM_002095.6(GTF2E2):c.733A>T (p.Met245Leu) | Inborn genetic diseases [RCV004635053] | uncertain significance | 8 | 30580307 | 30580307 | Human | 1 | name |
| 597859742 | CV3817187 | single nucleotide variant | NM_002095.6(GTF2E2):c.361A>G (p.Thr121Ala) | not provided [RCV005146568] | uncertain significance | 8 | 30614613 | 30614613 | Human | | name |
| 597928965 | CV3837299 | single nucleotide variant | NM_002095.6(GTF2E2):c.581G>A (p.Arg194His) | not provided [RCV005185457] | uncertain significance | 8 | 30607119 | 30607119 | Human | | name |
| 598235350 | CV3974764 | single nucleotide variant | NM_002095.6(GTF2E2):c.611A>G (p.Asn204Ser) | Inborn genetic diseases [RCV005343040] | uncertain significance | 8 | 30607089 | 30607089 | Human | 1 | name |
| 598252654 | CV3974765 | single nucleotide variant | NM_002095.6(GTF2E2):c.430A>G (p.Asn144Asp) | Inborn genetic diseases [RCV005346133] | uncertain significance | 8 | 30612418 | 30612418 | Human | 1 | name |
| 15191721 | CV723052 | single nucleotide variant | NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg) | GTF2E2-related disorder [RCV003930724]|not provided [RCV000888459] | likely benign | 8 | 30612300 | 30612300 | Human | 3 | name , trait , alternate_id |
| 15191721 | CV723052 | single nucleotide variant | NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg) | GTF2E2-related disorder [RCV003930724]|not provided [RCV000888459] | likely benign | 8 | 30612300 | 30612301 | Human | 3 | name , trait , alternate_id |
| 126749356 | CV1007971 | microsatellite | NM_002095.6(GTF2E2):c.93ATC[3] (p.Ser36del) | not provided [RCV001315703] | uncertain significance | 8 | 30653495 | 30653497 | Human | | name |
| 152085787 | CV1567550 | indel | NM_002095.6(GTF2E2):c.549+10_549+11delinsTG | not provided [RCV002171150] | likely benign | 8 | 30612288 | 30612289 | Human | | name |
| 151713066 | CV1441254 | microsatellite | NM_002095.6(GTF2E2):c.111GAA[2] (p.Lys40del) | not provided [RCV001964677] | uncertain significance | 8 | 30653480 | 30653482 | Human | | name |
| 156013577 | CV2076404 | microsatellite | NM_002095.6(GTF2E2):c.490GGA[1] (p.Gly165del) | not provided [RCV002866235] | uncertain significance | 8 | 30612353 | 30612355 | Human | | name |
