| 407573986 | CV3498335 | single nucleotide variant | NM_001378974.1(FBXW11):c.*14C>G | not specified [RCV004702810] | uncertain significance | 5 | 171868621 | 171868621 | Human | | name |
| 401918136 | CV2825570 | single nucleotide variant | NM_001378974.1(FBXW11):c.148-2A>G | not provided [RCV003430005] | uncertain significance | 5 | 171914407 | 171914407 | Human | | name |
| 405696537 | CV3226742 | single nucleotide variant | NM_001378974.1(FBXW11):c.971+7G>C | not provided [RCV003993135] | likely benign | 5 | 171878004 | 171878004 | Human | | name |
| 596921452 | CV3535098 | single nucleotide variant | NM_001378974.1(FBXW11):c.*25+1G>A | not provided [RCV004784657] | uncertain significance | 5 | 171868609 | 171868609 | Human | | name |
| 150533094 | CV1307351 | single nucleotide variant | NM_001378974.1(FBXW11):c.1221+5G>C | not provided [RCV001753386] | uncertain significance | 5 | 171876280 | 171876280 | Human | | name |
| 329367205 | CV2438853 | single nucleotide variant | NM_001378974.1(FBXW11):c.14C>T (p.Ser5Leu) | not specified [RCV004264387] | uncertain significance | 5 | 172006489 | 172006489 | Human | | name |
| 407426344 | CV3409881 | single nucleotide variant | NM_001378974.1(FBXW11):c.20T>C (p.Ile7Thr) | not provided [RCV004585813] | uncertain significance | 5 | 172006483 | 172006483 | Human | | name |
| 401878470 | CV2770563 | single nucleotide variant | NM_001378974.1(FBXW11):c.79G>T (p.Ala27Ser) | not specified [RCV004349630] | uncertain significance | 5 | 171957665 | 171957665 | Human | | name |
| 401934958 | CV2800874 | single nucleotide variant | NM_001378974.1(FBXW11):c.43A>C (p.Met15Leu) | FBXW11-related disorder [RCV003412396] | uncertain significance | 5 | 172006460 | 172006460 | Human | | name , trait , alternate_id |
| 408380288 | CV3512877 | single nucleotide variant | NM_001378974.1(FBXW11):c.990G>A (p.Thr330=) | FBXW11-related disorder [RCV004754059] | likely benign | 5 | 171876516 | 171876516 | Human | | name , trait , alternate_id |
| 598128947 | CV3886750 | single nucleotide variant | NM_001378974.1(FBXW11):c.810T>C (p.Asp270=) | not provided [RCV005244410] | likely benign | 5 | 171891509 | 171891509 | Human | | name |
| 598228304 | CV3962876 | single nucleotide variant | NM_001378974.1(FBXW11):c.44T>C (p.Met15Thr) | not specified [RCV005341910] | uncertain significance | 5 | 172006459 | 172006459 | Human | | name |
| 598228309 | CV3962877 | single nucleotide variant | NM_001378974.1(FBXW11):c.40C>T (p.Leu14Phe) | not specified [RCV005341911] | uncertain significance | 5 | 172006463 | 172006463 | Human | | name |
| 152981385 | CV1676767 | single nucleotide variant | NM_001378974.1(FBXW11):c.211A>G (p.Ile71Val) | not specified [RCV002247832] | uncertain significance | 5 | 171910797 | 171910797 | Human | | name |
| 155267062 | CV1699410 | single nucleotide variant | NM_001378974.1(FBXW11):c.121A>C (p.Ser41Arg) | not provided [RCV002283205] | uncertain significance | 5 | 171957623 | 171957623 | Human | | name |
| 243054349 | CV2418565 | single nucleotide variant | NM_001378974.1(FBXW11):c.218A>T (p.Asn73Ile) | not provided [RCV003154554] | uncertain significance | 5 | 171910790 | 171910790 | Human | | name |
| 329350578 | CV2421731 | deletion | NM_001378974.1(FBXW11):c.676del (p.Tyr226fs) | not provided [RCV003159434] | uncertain significance | 5 | 171899042 | 171899042 | Human | | name |
| 329350638 | CV2421758 | single nucleotide variant | NM_001378974.1(FBXW11):c.245G>A (p.Arg82Lys) | not provided [RCV003159461] | uncertain significance | 5 | 171910763 | 171910763 | Human | | name |
| 329353001 | CV2476970 | single nucleotide variant | NM_001378974.1(FBXW11):c.1038C>T (p.His346=) | not provided [RCV003223202] | benign|likely benign | 5 | 171876468 | 171876468 | Human | | name |
| 401878469 | CV2770562 | single nucleotide variant | NM_001378974.1(FBXW11):c.111T>A (p.Ser37Arg) | not specified [RCV004349629] | uncertain significance | 5 | 171957633 | 171957633 | Human | | name |
| 401915442 | CV2825569 | single nucleotide variant | NM_001378974.1(FBXW11):c.1662C>G (p.Pro554=) | not provided [RCV003428718] | likely benign | 5 | 171868665 | 171868665 | Human | | name |
| 404998183 | CV2850098 | duplication | NM_001378974.1(FBXW11):c.898dup (p.His300fs) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV003493003] | uncertain significance | 5 | 171878083 | 171878084 | Human | 1 | name |
| 405275318 | CV3204638 | single nucleotide variant | NM_001378974.1(FBXW11):c.188C>T (p.Pro63Leu) | FBXW11-related disorder [RCV003952043] | uncertain significance | 5 | 171914365 | 171914365 | Human | | name , trait , alternate_id |
| 408383801 | CV3525847 | single nucleotide variant | NM_001378974.1(FBXW11):c.1032A>G (p.Val344=) | not specified [RCV004766757] | likely benign | 5 | 171876474 | 171876474 | Human | | name |
| 597651293 | CV3551994 | single nucleotide variant | NM_001378974.1(FBXW11):c.287T>C (p.Leu96Ser) | not provided [RCV004820707] | uncertain significance | 5 | 171910721 | 171910721 | Human | | name |
| 598223834 | CV3894053 | single nucleotide variant | NM_001378974.1(FBXW11):c.1686T>G (p.Ser562=) | not provided [RCV005257296] | likely benign | 5 | 171868641 | 171868641 | Human | | name |
| 15186235 | CV699016 | single nucleotide variant | NM_001378974.1(FBXW11):c.1191C>T (p.Ile397=) | FBXW11-related disorder [RCV003935811]|not provided [RCV000953222] | benign|likely benign | 5 | 171876315 | 171876315 | Human | 1 | name , trait , alternate_id |
| 150529034 | CV1307509 | single nucleotide variant | NM_001378974.1(FBXW11):c.406T>A (p.Leu136Met) | not provided [RCV001755646] | uncertain significance | 5 | 171910602 | 171910602 | Human | | name |
| 152156910 | CV1668820 | single nucleotide variant | NM_001378974.1(FBXW11):c.937G>A (p.Val313Ile) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV005032192]|not specified [RCV002223046] | uncertain significance | 5 | 171878045 | 171878045 | Human | 1 | name |
| 153348643 | CV1692687 | single nucleotide variant | NM_001378974.1(FBXW11):c.742C>T (p.Arg248Ter) | not provided [RCV002274542] | uncertain significance | 5 | 171891577 | 171891577 | Human | | name |
| 155644336 | CV1708610 | single nucleotide variant | NM_001378974.1(FBXW11):c.836G>A (p.Arg279Gln) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV002291143] | uncertain significance | 5 | 171891483 | 171891483 | Human | 1 | name |
| 155795602 | CV1861396 | single nucleotide variant | NM_001378974.1(FBXW11):c.821T>G (p.Ile274Ser) | not provided [RCV002469678] | uncertain significance | 5 | 171891498 | 171891498 | Human | | name |
| 155795820 | CV1861518 | single nucleotide variant | NM_001378974.1(FBXW11):c.623G>T (p.Trp208Leu) | not provided [RCV002469800] | uncertain significance | 5 | 171899914 | 171899914 | Human | | name |
| 155921600 | CV2276333 | single nucleotide variant | NM_001378974.1(FBXW11):c.343C>T (p.His115Tyr) | not specified [RCV004144078] | uncertain significance | 5 | 171910665 | 171910665 | Human | | name |
| 243058993 | CV2410055 | single nucleotide variant | NM_001378974.1(FBXW11):c.529C>T (p.Arg177Ter) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV003147229] | uncertain significance | 5 | 171900008 | 171900008 | Human | 1 | name |
| 329954114 | CV2669424 | single nucleotide variant | NM_001378974.1(FBXW11):c.554G>A (p.Trp185Ter) | not provided [RCV003231932] | uncertain significance | 5 | 171899983 | 171899983 | Human | | name |
| 401921577 | CV2804814 | single nucleotide variant | NM_001378974.1(FBXW11):c.508C>G (p.Leu170Val) | FBXW11-related disorder [RCV003402994] | uncertain significance | 5 | 171900029 | 171900029 | Human | | name , trait , alternate_id |
| 402506810 | CV2927831 | single nucleotide variant | NM_001378974.1(FBXW11):c.524G>A (p.Trp175Ter) | not provided [RCV003574470] | uncertain significance | 5 | 171900013 | 171900013 | Human | | name |
| 405259896 | CV3195300 | single nucleotide variant | NM_001378974.1(FBXW11):c.656A>T (p.Asp219Val) | FBXW11-related disorder [RCV003894494] | uncertain significance | 5 | 171899062 | 171899062 | Human | | name , trait , alternate_id |
| 405723435 | CV3260506 | single nucleotide variant | NM_001378974.1(FBXW11):c.578T>C (p.Val193Ala) | not specified [RCV004389108] | uncertain significance | 5 | 171899959 | 171899959 | Human | | name |
| 405723445 | CV3260507 | single nucleotide variant | NM_001378974.1(FBXW11):c.580C>T (p.Arg194Cys) | not provided [RCV004810670]|not specified [RCV004389109] | likely benign|uncertain significance | 5 | 171899957 | 171899957 | Human | | name |
| 405723456 | CV3260508 | single nucleotide variant | NM_001378974.1(FBXW11):c.584C>G (p.Thr195Ser) | not specified [RCV004389110] | uncertain significance | 5 | 171899953 | 171899953 | Human | | name |
| 407482287 | CV3442652 | single nucleotide variant | NM_001378974.1(FBXW11):c.989C>T (p.Thr330Met) | not specified [RCV004618353] | uncertain significance | 5 | 171876517 | 171876517 | Human | | name |
| 408374819 | CV3502535 | single nucleotide variant | NM_001378974.1(FBXW11):c.974T>C (p.Val325Ala) | not provided [RCV004726122] | uncertain significance | 5 | 171876532 | 171876532 | Human | | name |
| 408393562 | CV3519668 | single nucleotide variant | NM_001378974.1(FBXW11):c.413G>T (p.Arg138Leu) | not provided [RCV004763964] | uncertain significance | 5 | 171910595 | 171910595 | Human | | name |
| 408394002 | CV3526322 | single nucleotide variant | NM_001378974.1(FBXW11):c.770G>A (p.Arg257His) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV004771754] | uncertain significance | 5 | 171891549 | 171891549 | Human | 1 | name |
| 408385746 | CV3528660 | single nucleotide variant | NM_001378974.1(FBXW11):c.720A>G (p.Ile240Met) | not provided [RCV004772493] | uncertain significance | 5 | 171891599 | 171891599 | Human | | name |
| 596928627 | CV3540485 | single nucleotide variant | NM_001378974.1(FBXW11):c.427G>T (p.Ala143Ser) | not provided [RCV004794812] | uncertain significance | 5 | 171910581 | 171910581 | Human | | name |
| 596928654 | CV3540497 | single nucleotide variant | NM_001378974.1(FBXW11):c.910G>T (p.Val304Phe) | not provided [RCV004794824] | uncertain significance | 5 | 171878072 | 171878072 | Human | | name |
| 596938261 | CV3550068 | single nucleotide variant | NM_001378974.1(FBXW11):c.824T>C (p.Ile275Thr) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV004813373] | uncertain significance | 5 | 171891495 | 171891495 | Human | 1 | name |
| 596945876 | CV3550273 | single nucleotide variant | NM_001378974.1(FBXW11):c.488G>A (p.Arg163Lys) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV004818811] | uncertain significance | 5 | 171900049 | 171900049 | Human | 1 | name |
| 597716789 | CV3733293 | single nucleotide variant | NM_001378974.1(FBXW11):c.800T>G (p.Leu267Ter) | not provided [RCV005052483] | uncertain significance | 5 | 171891519 | 171891519 | Human | | name |
| 598228283 | CV3962873 | single nucleotide variant | NM_001378974.1(FBXW11):c.935G>A (p.Arg312His) | not specified [RCV005341907] | uncertain significance | 5 | 171878047 | 171878047 | Human | | name |
| 598228297 | CV3962875 | single nucleotide variant | NM_001378974.1(FBXW11):c.627T>A (p.Asp209Glu) | not specified [RCV005341909] | uncertain significance | 5 | 171899091 | 171899091 | Human | | name |
| 28877931 | CV861623 | single nucleotide variant | NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg) | FBXW11-related neurodevelopmental, brain, eye, and digit anomalies [RCV001095749]|Neurodevelopmental, jaw, eye, and digital syndrome [RCV002468623]|not provided [RCV003106110] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 5 | 171878126 | 171878126 | Human | 1 | name , trait |
| 34891941 | CV906217 | single nucleotide variant | NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001175174]|not provided [RCV004720776] | pathogenic|likely pathogenic | 5 | 171891532 | 171891532 | Human | 1 | name |
| 126908309 | CV1052698 | single nucleotide variant | NM_001378974.1(FBXW11):c.1403G>T (p.Arg468Leu) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001374430] | likely pathogenic | 5 | 171870796 | 171870796 | Human | 1 | name |
| 126908307 | CV1052699 | single nucleotide variant | NM_001378974.1(FBXW11):c.1403G>A (p.Arg468Gln) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001374429]|not provided [RCV003332337] | pathogenic|likely pathogenic | 5 | 171870796 | 171870796 | Human | 1 | name |
| 126908305 | CV1052700 | single nucleotide variant | NM_001378974.1(FBXW11):c.1393G>A (p.Glu465Lys) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001374428] | likely pathogenic | 5 | 171870806 | 171870806 | Human | 1 | name |
| 126908302 | CV1052701 | single nucleotide variant | NM_001378974.1(FBXW11):c.1156G>A (p.Ala386Thr) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001374427]|not provided [RCV003229892] | pathogenic|likely pathogenic | 5 | 171876350 | 171876350 | Human | 1 | name |
| 150544110 | CV1310199 | single nucleotide variant | NM_001378974.1(FBXW11):c.1274G>A (p.Arg425Gln) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001771827] | uncertain significance | 5 | 171872938 | 171872938 | Human | 1 | name |
| 150533240 | CV1311084 | single nucleotide variant | NM_001378974.1(FBXW11):c.1655G>A (p.Arg552His) | not provided [RCV001776819]|not specified [RCV004616776] | uncertain significance | 5 | 171868672 | 171868672 | Human | | name |
| 151741690 | CV1335519 | single nucleotide variant | NM_001378974.1(FBXW11):c.1340G>A (p.Arg447Lys) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001845040] | not provided | 5 | 171872872 | 171872872 | Human | | name |
| 151818649 | CV1385763 | single nucleotide variant | NM_001378974.1(FBXW11):c.1543C>T (p.Arg515Cys) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV003146471]|not provided [RCV002013152]|not specified [RCV003320866] | uncertain significance | 5 | 171868784 | 171868784 | Human | 1 | name |
| 153347102 | CV1691941 | single nucleotide variant | NM_001378974.1(FBXW11):c.1043G>A (p.Arg348His) | not provided [RCV002273426] | uncertain significance | 5 | 171876463 | 171876463 | Human | | name |
| 153349839 | CV1693150 | single nucleotide variant | NM_001378974.1(FBXW11):c.1508C>T (p.Thr503Ile) | not provided [RCV002276270] | uncertain significance | 5 | 171869751 | 171869751 | Human | | name |
| 156167007 | CV2270457 | single nucleotide variant | NM_001378974.1(FBXW11):c.1042C>T (p.Arg348Cys) | not specified [RCV004137424] | uncertain significance | 5 | 171876464 | 171876464 | Human | | name |
| 156258079 | CV2304838 | single nucleotide variant | NM_001378974.1(FBXW11):c.1129C>T (p.Arg377Cys) | not specified [RCV004168764] | uncertain significance | 5 | 171876377 | 171876377 | Human | | name |
| 243058994 | CV2410056 | single nucleotide variant | NM_001378974.1(FBXW11):c.1489C>G (p.Pro497Ala) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV003147230] | uncertain significance | 5 | 171869770 | 171869770 | Human | 1 | name |
| 243054354 | CV2418567 | single nucleotide variant | NM_001378974.1(FBXW11):c.1135G>A (p.Val379Ile) | not provided [RCV003154556] | uncertain significance | 5 | 171876371 | 171876371 | Human | | name |
| 401723392 | CV2672116 | single nucleotide variant | NM_001378974.1(FBXW11):c.1153G>C (p.Ala385Pro) | not provided [RCV003239017] | uncertain significance | 5 | 171876353 | 171876353 | Human | | name |
| 401917385 | CV2829835 | single nucleotide variant | NM_001378974.1(FBXW11):c.1237A>T (p.Thr413Ser) | not provided [RCV003443879] | uncertain significance | 5 | 171872975 | 171872975 | Human | | name |
| 402479352 | CV2853304 | single nucleotide variant | NM_001378974.1(FBXW11):c.1405T>C (p.Cys469Arg) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV003494499] | uncertain significance | 5 | 171870794 | 171870794 | Human | 1 | name |
| 405723428 | CV3260505 | single nucleotide variant | NM_001378974.1(FBXW11):c.1187A>G (p.Tyr396Cys) | not specified [RCV004389107] | uncertain significance | 5 | 171876319 | 171876319 | Human | | name |
| 407480840 | CV3415350 | single nucleotide variant | NM_001378974.1(FBXW11):c.1277G>T (p.Gly426Val) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV004596060] | likely pathogenic | 5 | 171872935 | 171872935 | Human | 1 | name |
| 408387168 | CV3518729 | single nucleotide variant | NM_001378974.1(FBXW11):c.1104G>A (p.Met368Ile) | not provided [RCV004761048] | uncertain significance | 5 | 171876402 | 171876402 | Human | | name |
| 408387479 | CV3518865 | single nucleotide variant | NM_001378974.1(FBXW11):c.1522A>C (p.Thr508Pro) | not provided [RCV004761184] | uncertain significance | 5 | 171869737 | 171869737 | Human | | name |
| 408388197 | CV3520686 | single nucleotide variant | NM_001378974.1(FBXW11):c.1179C>G (p.Asp393Glu) | not provided [RCV004761519] | uncertain significance | 5 | 171876327 | 171876327 | Human | | name |
| 408387040 | CV3524361 | single nucleotide variant | NM_001378974.1(FBXW11):c.1552C>T (p.Arg518Trp) | not provided [RCV004768235] | uncertain significance | 5 | 171868775 | 171868775 | Human | | name |
| 408392331 | CV3525211 | single nucleotide variant | NM_001378974.1(FBXW11):c.1192G>A (p.Val398Met) | not provided [RCV004771097] | uncertain significance | 5 | 171876314 | 171876314 | Human | | name |
| 408390907 | CV3527754 | single nucleotide variant | NM_001378974.1(FBXW11):c.1445A>G (p.Tyr482Cys) | not provided [RCV004775023] | uncertain significance | 5 | 171870754 | 171870754 | Human | | name |
| 408390971 | CV3527824 | single nucleotide variant | NM_001378974.1(FBXW11):c.1496C>T (p.Ala499Val) | not provided [RCV004775093] | uncertain significance | 5 | 171869763 | 171869763 | Human | | name |
| 408393344 | CV3528440 | single nucleotide variant | NM_001378974.1(FBXW11):c.1289T>G (p.Leu430Arg) | not provided [RCV004776208] | uncertain significance | 5 | 171872923 | 171872923 | Human | | name |
| 596930941 | CV3529785 | single nucleotide variant | NM_001378974.1(FBXW11):c.1412G>A (p.Arg471Gln) | not provided [RCV004780835] | uncertain significance | 5 | 171870787 | 171870787 | Human | | name |
| 596923968 | CV3532070 | single nucleotide variant | NM_001378974.1(FBXW11):c.1017C>A (p.His339Gln) | not provided [RCV004777181] | uncertain significance | 5 | 171876489 | 171876489 | Human | | name |
| 596927192 | CV3532519 | single nucleotide variant | NM_001378974.1(FBXW11):c.1157C>A (p.Ala386Asp) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV005429120]|not provided [RCV004778617] | uncertain significance|not provided | 5 | 171876349 | 171876349 | Human | 1 | name |
| 596943144 | CV3542801 | single nucleotide variant | NM_001378974.1(FBXW11):c.1664C>G (p.Ser555Cys) | not provided [RCV004798385] | uncertain significance | 5 | 171868663 | 171868663 | Human | | name |
| 597723376 | CV3666168 | single nucleotide variant | NM_001378974.1(FBXW11):c.1457T>C (p.Ile486Thr) | not specified [RCV004919002] | uncertain significance | 5 | 171869802 | 171869802 | Human | | name |
| 597723398 | CV3666170 | single nucleotide variant | NM_001378974.1(FBXW11):c.1235G>C (p.Ser412Thr) | not specified [RCV004919004] | uncertain significance | 5 | 171872977 | 171872977 | Human | | name |
| 597716383 | CV3733261 | single nucleotide variant | NM_001378974.1(FBXW11):c.1559A>G (p.Gln520Arg) | not provided [RCV005052451] | uncertain significance | 5 | 171868768 | 171868768 | Human | | name |
| 597718297 | CV3733410 | single nucleotide variant | NM_001378974.1(FBXW11):c.1241G>A (p.Cys414Tyr) | not provided [RCV005052600] | uncertain significance | 5 | 171872971 | 171872971 | Human | | name |
| 597925576 | CV3863493 | single nucleotide variant | NM_001378974.1(FBXW11):c.1120A>G (p.Ile374Val) | not provided [RCV005205818] | uncertain significance | 5 | 171876386 | 171876386 | Human | | name |
| 598126451 | CV3886279 | single nucleotide variant | NM_001378974.1(FBXW11):c.1058T>C (p.Leu353Pro) | not provided [RCV005242082] | uncertain significance | 5 | 171876448 | 171876448 | Human | | name |
| 598200316 | CV3892644 | single nucleotide variant | NM_001378974.1(FBXW11):c.1211G>A (p.Arg404Lys) | not provided [RCV005254477] | uncertain significance | 5 | 171876295 | 171876295 | Human | | name |
| 598228290 | CV3962874 | single nucleotide variant | NM_001378974.1(FBXW11):c.1115C>A (p.Thr372Asn) | not specified [RCV005341908] | uncertain significance | 5 | 171876391 | 171876391 | Human | | name |
| 34891939 | CV906215 | single nucleotide variant | NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001175172]|not provided [RCV005093750] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 5 | 171876356 | 171876356 | Human | 1 | name |
| 34891940 | CV906216 | single nucleotide variant | NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001175173] | pathogenic|likely pathogenic | 5 | 171876352 | 171876352 | Human | 1 | name |
| 40903853 | CV976526 | single nucleotide variant | NM_001378974.1(FBXW11):c.1480G>A (p.Ala494Thr) | Neurodevelopmental, jaw, eye, and digital syndrome [RCV001270150] | uncertain significance | 5 | 171869779 | 171869779 | Human | 1 | name |
| 150532256 | CV1308478 | deletion | NM_001378974.1(FBXW11):c.803_807del (p.Gln268fs) | not provided [RCV001757522] | uncertain significance | 5 | 171891512 | 171891516 | Human | | name |
| 408383531 | CV3503975 | deletion | NM_001378974.1(FBXW11):c.238_240del (p.Val80del) | FBXW11-related disorder [RCV004730638] | uncertain significance | 5 | 171910768 | 171910770 | Human | | name , trait , alternate_id |
| 408383792 | CV3519988 | duplication | NM_001378974.1(FBXW11):c.910_914dup (p.Cys306fs) | not provided [RCV004759809] | uncertain significance | 5 | 171878067 | 171878068 | Human | | name |
| 408390753 | CV3527714 | duplication | NM_001378974.1(FBXW11):c.1323_1326dup (p.Asp443fs) | not provided [RCV004774983] | uncertain significance | 5 | 171872885 | 171872886 | Human | | name |
| 155732547 | CV1781039 | indel | NM_001378974.1(FBXW11):c.1001_1002delinsA (p.Leu334fs) | not provided [RCV002308827] | uncertain significance | 5 | 171876504 | 171876505 | Human | | name |
