| 150499093 | CV1282495 | single nucleotide variant | NM_001024613.4(FEZF1):c.-36A>G | not provided [RCV001718131] | benign | 7 | 122304473 | 122304473 | Human | | name |
| 150416679 | CV1180272 | duplication | NM_001024613.4(FEZF1):c.*269dup | not provided [RCV001549774] | likely benign | 7 | 122301727 | 122301728 | Human | | name |
| 150422951 | CV1180273 | single nucleotide variant | NM_001024613.4(FEZF1):c.801+10A>T | Hypogonadotropic hypogonadism 7 with or without anosmia [RCV002506659]|not provided [RCV001553347] | benign|likely benign | 7 | 122303627 | 122303627 | Human | 1 | name |
| 150420958 | CV1197627 | single nucleotide variant | NM_001024613.4(FEZF1):c.801+59C>T | not provided [RCV001577837] | likely benign | 7 | 122303578 | 122303578 | Human | | name |
| 150490266 | CV1208584 | single nucleotide variant | NM_001024613.4(FEZF1):c.802-68C>G | not provided [RCV001592445] | likely benign | 7 | 122303379 | 122303379 | Human | | name |
| 150456190 | CV1219318 | single nucleotide variant | NM_001024613.4(FEZF1):c.1069+6C>G | not provided [RCV001612665] | benign | 7 | 122302793 | 122302793 | Human | | name |
| 150456510 | CV1235217 | single nucleotide variant | NM_001024613.4(FEZF1):c.801+49T>C | not provided [RCV001648633] | benign | 7 | 122303588 | 122303588 | Human | | name |
| 150503257 | CV1257753 | single nucleotide variant | NM_001024613.4(FEZF1):c.1069+4T>C | not provided [RCV001677441] | benign | 7 | 122302795 | 122302795 | Human | | name |
| 156211932 | CV2036959 | single nucleotide variant | NM_001024613.4(FEZF1):c.802-17G>A | not provided [RCV002790277] | benign | 7 | 122303328 | 122303328 | Human | | name |
| 405221489 | CV3038570 | single nucleotide variant | NM_001024613.4(FEZF1):c.936+17C>T | not provided [RCV003710038] | likely benign | 7 | 122303160 | 122303160 | Human | | name |
| 15190771 | CV744326 | single nucleotide variant | NM_001024613.4(FEZF1):c.937-10T>G | not provided [RCV000910049]|not specified [RCV003489964] | benign|likely benign | 7 | 122302941 | 122302941 | Human | | name |
| 150334354 | CV1171658 | single nucleotide variant | NM_001024613.4(FEZF1):c.801+121T>C | not provided [RCV001540000] | benign | 7 | 122303516 | 122303516 | Human | | name |
| 150425765 | CV1183922 | single nucleotide variant | NM_001024613.4(FEZF1):c.801+125T>C | not provided [RCV001558445] | likely benign | 7 | 122303512 | 122303512 | Human | | name |
| 150445641 | CV1233213 | deletion | NM_001024613.4(FEZF1):c.1070-34del | not provided [RCV001645886] | benign | 7 | 122302389 | 122302389 | Human | | name |
| 150499087 | CV1282494 | single nucleotide variant | NM_001024613.4(FEZF1):c.801+101T>C | not provided [RCV001718130] | benign | 7 | 122303536 | 122303536 | Human | | name |
| 156218350 | CV2047752 | single nucleotide variant | NM_001024613.4(FEZF1):c.1069+15A>G | not provided [RCV002790534] | benign | 7 | 122302784 | 122302784 | Human | | name |
| 150447773 | CV1216164 | single nucleotide variant | NM_001024613.4(FEZF1):c.1070-117T>C | not provided [RCV001611462] | benign | 7 | 122302472 | 122302472 | Human | | name |
| 150477814 | CV1252072 | single nucleotide variant | NM_001024613.4(FEZF1):c.1069+179G>T | not provided [RCV001672272] | benign | 7 | 122302620 | 122302620 | Human | 2 | name |
| 150469937 | CV1259742 | single nucleotide variant | NM_001024613.4(FEZF1):c.1070-212T>C | not provided [RCV001684043] | benign | 7 | 122302567 | 122302567 | Human | | name |
| 150502522 | CV1212254 | microsatellite | NM_001024613.4(FEZF1):c.801+93CTCC[4] | not provided [RCV001595127] | benign | 7 | 122303536 | 122303537 | Human | | name |
| 150413366 | CV1190604 | microsatellite | NM_001024613.4(FEZF1):c.801+101TTCC[9] | not provided [RCV001567171] | likely benign | 7 | 122303473 | 122303500 | Human | | name |
| 150414533 | CV1176865 | microsatellite | NM_001024613.4(FEZF1):c.801+101TTCC[17] | not provided [RCV001548173] | likely benign | 7 | 122303472 | 122303473 | Human | | name |
| 150495256 | CV1225038 | microsatellite | NM_001024613.4(FEZF1):c.801+101TTCC[14] | not provided [RCV001619516] | benign | 7 | 122303473 | 122303480 | Human | | name |
| 150430937 | CV1243529 | microsatellite | NM_001024613.4(FEZF1):c.801+101TTCC[15] | not provided [RCV001663148] | benign | 7 | 122303473 | 122303476 | Human | | name |
| 150463210 | CV1276192 | microsatellite | NM_001024613.4(FEZF1):c.801+101TTCC[13] | not provided [RCV001710137] | benign | 7 | 122303473 | 122303484 | Human | | name |
| 150499250 | CV1282612 | microsatellite | NM_001024613.4(FEZF1):c.801+101TTCC[12] | not provided [RCV001718159] | benign | 7 | 122303473 | 122303488 | Human | | name |
| 150431236 | CV1206281 | deletion | NM_001024613.4(FEZF1):c.801+77_801+96del | not provided [RCV001580930] | likely benign | 7 | 122303541 | 122303560 | Human | | name |
| 15191138 | CV699789 | single nucleotide variant | NM_001024613.4(FEZF1):c.285G>C (p.Pro95=) | FEZF1-related disorder [RCV003935837]|not provided [RCV000954687]|not specified [RCV004782612] | benign|likely benign | 7 | 122304153 | 122304153 | Human | 1 | name , trait , alternate_id |
| 15164707 | CV710736 | single nucleotide variant | NM_001024613.4(FEZF1):c.213C>T (p.Ile71=) | FEZF1-related disorder [RCV004758119]|not provided [RCV000970786] | likely benign | 7 | 122304225 | 122304225 | Human | 1 | name , trait , alternate_id |
| 15118639 | CV735917 | single nucleotide variant | NM_001024613.4(FEZF1):c.252G>A (p.Thr84=) | not provided [RCV000895579] | likely benign | 7 | 122304186 | 122304186 | Human | | name |
| 15199810 | CV766037 | single nucleotide variant | NM_001024613.4(FEZF1):c.180A>G (p.Glu60=) | not provided [RCV000935208] | likely benign | 7 | 122304258 | 122304258 | Human | | name |
| 15184752 | CV766038 | single nucleotide variant | NM_001024613.4(FEZF1):c.123A>T (p.Pro41=) | not provided [RCV000930881]|not specified [RCV005236450] | likely benign | 7 | 122304315 | 122304315 | Human | | name |
| 150487557 | CV1237353 | duplication | NM_001024613.4(FEZF1):c.1069+18_1069+20dup | not provided [RCV001654202] | benign | 7 | 122302778 | 122302779 | Human | | name |
| 151841054 | CV1464234 | single nucleotide variant | NM_001024613.4(FEZF1):c.74C>A (p.Thr25Lys) | not provided [RCV001936120] | uncertain significance | 7 | 122304364 | 122304364 | Human | | name |
| 156186047 | CV1964666 | single nucleotide variant | NM_001024613.4(FEZF1):c.711G>T (p.Leu237=) | not provided [RCV002574262] | likely benign | 7 | 122303727 | 122303727 | Human | | name |
| 155919013 | CV2254781 | single nucleotide variant | NM_001024613.4(FEZF1):c.55C>T (p.Arg19Trp) | Inborn genetic diseases [RCV002772723] | uncertain significance | 7 | 122304383 | 122304383 | Human | 1 | name |
| 329353216 | CV2477032 | single nucleotide variant | NM_001024613.4(FEZF1):c.504C>T (p.Gly168=) | not provided [RCV003223264] | likely benign | 7 | 122303934 | 122303934 | Human | | name |
| 405283777 | CV3200345 | single nucleotide variant | NM_001024613.4(FEZF1):c.735C>G (p.Thr245=) | FEZF1-related disorder [RCV003979394] | likely benign | 7 | 122303703 | 122303703 | Human | | name , trait , alternate_id |
| 405744902 | CV3253442 | single nucleotide variant | NM_001024613.4(FEZF1):c.65T>A (p.Met22Lys) | Inborn genetic diseases [RCV004391893] | uncertain significance | 7 | 122304373 | 122304373 | Human | 1 | name |
| 597951914 | CV3847500 | single nucleotide variant | NM_001024613.4(FEZF1):c.748C>A (p.Arg250=) | not provided [RCV005190482] | likely benign | 7 | 122303690 | 122303690 | Human | | name |
| 15189626 | CV735913 | single nucleotide variant | NM_001024613.4(FEZF1):c.780C>T (p.Phe260=) | FEZF1-related disorder [RCV003902866]|not provided [RCV000909707] | likely benign | 7 | 122303658 | 122303658 | Human | 1 | name , trait , alternate_id |
| 15140226 | CV735914 | single nucleotide variant | NM_001024613.4(FEZF1):c.615G>A (p.Val205=) | not provided [RCV000899282] | likely benign | 7 | 122303823 | 122303823 | Human | | name |
| 15176649 | CV735916 | single nucleotide variant | NM_001024613.4(FEZF1):c.405G>A (p.Ala135=) | not provided [RCV000906476] | likely benign | 7 | 122304033 | 122304033 | Human | | name |
| 15186510 | CV766036 | single nucleotide variant | NM_001024613.4(FEZF1):c.438G>A (p.Pro146=) | not provided [RCV000931375] | likely benign | 7 | 122304000 | 122304000 | Human | | name |
| 151355661 | CV1328728 | single nucleotide variant | NM_001024613.4(FEZF1):c.1020C>G (p.Gly340=) | not specified [RCV001820733] | likely benign | 7 | 122302848 | 122302848 | Human | | name |
| 151661935 | CV1330131 | single nucleotide variant | NM_001024613.4(FEZF1):c.263C>T (p.Ala88Val) | Hypogonadotropic hypogonadism 22 with or without anosmia [RCV001823542]|Inborn genetic diseases [RCV004041002] | uncertain significance | 7 | 122304175 | 122304175 | Human | 2 | name |
| 9589542 | CV166017 | deletion | NM_001024613.4(FEZF1):c.653del (p.Phe218fs) | Hypogonadotropic hypogonadism 22 with anosmia [RCV000144241] | pathogenic | 7 | 122303785 | 122303785 | Human | 1 | name |
| 156435750 | CV1937119 | single nucleotide variant | NM_001024613.4(FEZF1):c.1323G>A (p.Pro441=) | FEZF1-related disorder [RCV003936697]|not provided [RCV003104987] | likely benign | 7 | 122302102 | 122302102 | Human | 1 | name , trait , alternate_id |
| 156299652 | CV1955497 | single nucleotide variant | NM_001024613.4(FEZF1):c.1164C>G (p.Thr388=) | not provided [RCV002578170] | likely benign | 7 | 122302261 | 122302261 | Human | | name |
| 156116232 | CV1993940 | single nucleotide variant | NM_001024613.4(FEZF1):c.266G>A (p.Gly89Glu) | not provided [RCV002662676] | uncertain significance | 7 | 122304172 | 122304172 | Human | | name |
| 156318236 | CV2169498 | single nucleotide variant | NM_001024613.4(FEZF1):c.188A>G (p.His63Arg) | not provided [RCV003028992] | uncertain significance | 7 | 122304250 | 122304250 | Human | | name |
| 156068469 | CV2176243 | single nucleotide variant | NM_001024613.4(FEZF1):c.197A>C (p.His66Pro) | not provided [RCV003053643] | uncertain significance | 7 | 122304241 | 122304241 | Human | | name |
| 156198395 | CV2237430 | single nucleotide variant | NM_001024613.4(FEZF1):c.115C>T (p.Arg39Cys) | Inborn genetic diseases [RCV002743279] | uncertain significance | 7 | 122304323 | 122304323 | Human | 1 | name |
| 156330385 | CV2339466 | single nucleotide variant | NM_001024613.4(FEZF1):c.184A>G (p.Lys62Glu) | Inborn genetic diseases [RCV002964099] | uncertain significance | 7 | 122304254 | 122304254 | Human | 1 | name |
| 329351864 | CV2455408 | single nucleotide variant | NM_001024613.4(FEZF1):c.250A>T (p.Thr84Ser) | Inborn genetic diseases [RCV003200099] | uncertain significance | 7 | 122304188 | 122304188 | Human | 1 | name |
| 404990452 | CV3131999 | single nucleotide variant | NM_001024613.4(FEZF1):c.1422C>T (p.His474=) | not provided [RCV003827128] | likely benign | 7 | 122302003 | 122302003 | Human | | name |
| 405744872 | CV3253438 | single nucleotide variant | NM_001024613.4(FEZF1):c.166T>G (p.Leu56Val) | Inborn genetic diseases [RCV004391889] | likely benign | 7 | 122304272 | 122304272 | Human | 1 | name |
| 405744880 | CV3253439 | single nucleotide variant | NM_001024613.4(FEZF1):c.254G>A (p.Ser85Asn) | Inborn genetic diseases [RCV004391890] | uncertain significance | 7 | 122304184 | 122304184 | Human | 1 | name |
| 407484180 | CV3439048 | single nucleotide variant | NM_001024613.4(FEZF1):c.109A>G (p.Met37Val) | Inborn genetic diseases [RCV004618689] | uncertain significance | 7 | 122304329 | 122304329 | Human | 1 | name |
| 15129664 | CV710734 | single nucleotide variant | NM_001024613.4(FEZF1):c.1002T>C (p.His334=) | FEZF1-related disorder [RCV004758112]|not provided [RCV000964296] | benign|likely benign | 7 | 122302866 | 122302866 | Human | 1 | name , trait , alternate_id |
| 15160187 | CV710735 | single nucleotide variant | NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly) | not provided [RCV000969850]|not specified [RCV001819097] | benign|likely benign | 7 | 122304185 | 122304185 | Human | | name |
| 15183337 | CV722275 | single nucleotide variant | NM_001024613.4(FEZF1):c.1350G>A (p.Pro450=) | FEZF1-related disorder [RCV003948371]|not provided [RCV000886204]|not specified [RCV001818634] | benign | 7 | 122302075 | 122302075 | Human | 1 | name , trait , alternate_id |
| 15117769 | CV750377 | single nucleotide variant | NM_001024613.4(FEZF1):c.1164C>T (p.Thr388=) | FEZF1-related disorder [RCV003902975]|not provided [RCV000917855]|not specified [RCV001818864] | benign|likely benign | 7 | 122302261 | 122302261 | Human | 1 | name , trait , alternate_id |
| 9589541 | CV166016 | single nucleotide variant | NM_001024613.4(FEZF1):c.832C>T (p.His278Tyr) | Hypogonadotropic hypogonadism 22 with anosmia [RCV000144240] | pathogenic | 7 | 122303281 | 122303281 | Human | 1 | name |
| 156096546 | CV2004643 | single nucleotide variant | NM_001024613.4(FEZF1):c.590A>G (p.Tyr197Cys) | not provided [RCV002639420] | uncertain significance | 7 | 122303848 | 122303848 | Human | | name |
| 156138033 | CV2106010 | single nucleotide variant | NM_001024613.4(FEZF1):c.787G>A (p.Glu263Lys) | not provided [RCV002914799] | uncertain significance | 7 | 122303651 | 122303651 | Human | | name |
| 156109085 | CV2211126 | single nucleotide variant | NM_001024613.4(FEZF1):c.463C>T (p.His155Tyr) | Inborn genetic diseases [RCV002707078] | uncertain significance | 7 | 122303975 | 122303975 | Human | 1 | name |
| 156140198 | CV2260234 | single nucleotide variant | NM_001024613.4(FEZF1):c.305C>T (p.Ala102Val) | Inborn genetic diseases [RCV002826142] | uncertain significance | 7 | 122304133 | 122304133 | Human | 1 | name |
| 156072945 | CV2299126 | single nucleotide variant | NM_001024613.4(FEZF1):c.779T>C (p.Phe260Ser) | Inborn genetic diseases [RCV002886985] | uncertain significance | 7 | 122303659 | 122303659 | Human | 1 | name |
| 156005784 | CV2357700 | single nucleotide variant | NM_001024613.4(FEZF1):c.494G>C (p.Arg165Pro) | Inborn genetic diseases [RCV002997366] | uncertain significance | 7 | 122303944 | 122303944 | Human | 1 | name |
| 156269331 | CV2379251 | single nucleotide variant | NM_001024613.4(FEZF1):c.370G>T (p.Ala124Ser) | Inborn genetic diseases [RCV002703515] | uncertain significance | 7 | 122304068 | 122304068 | Human | 1 | name |
| 329392128 | CV2445348 | single nucleotide variant | NM_001024613.4(FEZF1):c.677T>G (p.Leu226Arg) | Inborn genetic diseases [RCV003192507] | uncertain significance | 7 | 122303761 | 122303761 | Human | 1 | name |
| 401891011 | CV2768906 | single nucleotide variant | NM_001024613.4(FEZF1):c.394G>A (p.Ala132Thr) | Inborn genetic diseases [RCV003369228] | uncertain significance | 7 | 122304044 | 122304044 | Human | 1 | name |
| 401866011 | CV2786229 | single nucleotide variant | NM_001024613.4(FEZF1):c.449A>G (p.Asn150Ser) | Inborn genetic diseases [RCV003379538] | uncertain significance | 7 | 122303989 | 122303989 | Human | 1 | name |
| 401897425 | CV2787005 | single nucleotide variant | NM_001024613.4(FEZF1):c.752G>C (p.Gly251Ala) | Inborn genetic diseases [RCV003375046] | uncertain significance | 7 | 122303686 | 122303686 | Human | 1 | name |
| 405744888 | CV3253440 | single nucleotide variant | NM_001024613.4(FEZF1):c.440G>A (p.Arg147His) | Inborn genetic diseases [RCV004391891] | uncertain significance | 7 | 122303998 | 122303998 | Human | 1 | name |
| 407484177 | CV3439047 | single nucleotide variant | NM_001024613.4(FEZF1):c.671C>T (p.Ala224Val) | Inborn genetic diseases [RCV004618688] | uncertain significance | 7 | 122303767 | 122303767 | Human | 1 | name |
| 597653259 | CV3672503 | single nucleotide variant | NM_001024613.4(FEZF1):c.503G>T (p.Gly168Val) | Inborn genetic diseases [RCV004975028] | uncertain significance | 7 | 122303935 | 122303935 | Human | 1 | name |
| 597653265 | CV3672504 | single nucleotide variant | NM_001024613.4(FEZF1):c.541G>A (p.Val181Met) | Inborn genetic diseases [RCV004975029] | uncertain significance | 7 | 122303897 | 122303897 | Human | 1 | name |
| 597653272 | CV3672505 | single nucleotide variant | NM_001024613.4(FEZF1):c.453C>G (p.His151Gln) | Inborn genetic diseases [RCV004975030] | uncertain significance | 7 | 122303985 | 122303985 | Human | 1 | name |
| 597653277 | CV3672506 | single nucleotide variant | NM_001024613.4(FEZF1):c.314C>A (p.Ala105Glu) | Inborn genetic diseases [RCV004975031] | uncertain significance | 7 | 122304124 | 122304124 | Human | 1 | name |
| 598240896 | CV3959330 | single nucleotide variant | NM_001024613.4(FEZF1):c.770C>T (p.Pro257Leu) | Inborn genetic diseases [RCV005344253] | uncertain significance | 7 | 122303668 | 122303668 | Human | 1 | name |
| 598240905 | CV3959332 | single nucleotide variant | NM_001024613.4(FEZF1):c.430G>A (p.Val144Ile) | Inborn genetic diseases [RCV005344255] | uncertain significance | 7 | 122304008 | 122304008 | Human | 1 | name |
| 598240910 | CV3959333 | single nucleotide variant | NM_001024613.4(FEZF1):c.475G>C (p.Ala159Pro) | Inborn genetic diseases [RCV005344256] | uncertain significance | 7 | 122303963 | 122303963 | Human | 1 | name |
| 598240915 | CV3959334 | single nucleotide variant | NM_001024613.4(FEZF1):c.652T>G (p.Phe218Val) | Inborn genetic diseases [RCV005344257] | uncertain significance | 7 | 122303786 | 122303786 | Human | 1 | name |
| 15099155 | CV722276 | single nucleotide variant | NM_001024613.4(FEZF1):c.523G>C (p.Gly175Arg) | FEZF1-related disorder [RCV003940697]|not provided [RCV000891893] | likely benign | 7 | 122303915 | 122303915 | Human | 1 | name , trait , alternate_id |
| 15127112 | CV735915 | single nucleotide variant | NM_001024613.4(FEZF1):c.553T>C (p.Phe185Leu) | FEZF1-related disorder [RCV003958072]|not provided [RCV000897050] | likely benign | 7 | 122303885 | 122303885 | Human | 1 | name , trait , alternate_id |
| 150466028 | CV1201176 | insertion | NM_001024613.4(FEZF1):c.801+101_801+102insCCC | not provided [RCV001587656] | likely benign | 7 | 122303535 | 122303536 | Human | | name |
| 151733246 | CV1336520 | single nucleotide variant | NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro) | Amenorrhea [RCV001849749]|not provided [RCV002225941] | likely benign|uncertain significance | 7 | 122302082 | 122302082 | Human | 2 | name |
| 156361001 | CV1908628 | single nucleotide variant | NM_001024613.4(FEZF1):c.1397T>G (p.Leu466Arg) | Inborn genetic diseases [RCV004621712]|not provided [RCV002602494] | uncertain significance | 7 | 122302028 | 122302028 | Human | 1 | name |
| 156305541 | CV2079765 | single nucleotide variant | NM_001024613.4(FEZF1):c.1318G>C (p.Glu440Gln) | not provided [RCV002857388] | uncertain significance | 7 | 122302107 | 122302107 | Human | | name |
| 156339319 | CV2225075 | single nucleotide variant | NM_001024613.4(FEZF1):c.1373C>A (p.Pro458Gln) | Inborn genetic diseases [RCV002718929] | uncertain significance | 7 | 122302052 | 122302052 | Human | 1 | name |
| 156095030 | CV2252998 | single nucleotide variant | NM_001024613.4(FEZF1):c.1393C>A (p.Pro465Thr) | Inborn genetic diseases [RCV002798754] | uncertain significance | 7 | 122302032 | 122302032 | Human | 1 | name |
| 156055506 | CV2308791 | single nucleotide variant | NM_001024613.4(FEZF1):c.1415A>G (p.Gln472Arg) | Inborn genetic diseases [RCV002911459] | uncertain significance | 7 | 122302010 | 122302010 | Human | 1 | name |
| 156178504 | CV2327446 | single nucleotide variant | NM_001024613.4(FEZF1):c.1186G>A (p.Asp396Asn) | Inborn genetic diseases [RCV002916979] | uncertain significance | 7 | 122302239 | 122302239 | Human | 1 | name |
| 156364624 | CV2339028 | single nucleotide variant | NM_001024613.4(FEZF1):c.1349C>T (p.Pro450Leu) | Inborn genetic diseases [RCV002941859] | uncertain significance | 7 | 122302076 | 122302076 | Human | 1 | name |
| 401886105 | CV2771078 | single nucleotide variant | NM_001024613.4(FEZF1):c.1417G>A (p.Gly473Ser) | Inborn genetic diseases [RCV003351893] | uncertain significance | 7 | 122302008 | 122302008 | Human | 1 | name |
| 405744866 | CV3253437 | single nucleotide variant | NM_001024613.4(FEZF1):c.1015G>A (p.Ala339Thr) | Inborn genetic diseases [RCV004391888] | uncertain significance | 7 | 122302853 | 122302853 | Human | 1 | name |
| 407484167 | CV3439045 | single nucleotide variant | NM_001024613.4(FEZF1):c.1393C>T (p.Pro465Ser) | Inborn genetic diseases [RCV004618686] | uncertain significance | 7 | 122302032 | 122302032 | Human | 1 | name |
| 407484172 | CV3439046 | single nucleotide variant | NM_001024613.4(FEZF1):c.1124A>C (p.Asn375Thr) | Inborn genetic diseases [RCV004618687] | uncertain significance | 7 | 122302301 | 122302301 | Human | 1 | name |
| 407501129 | CV3439049 | single nucleotide variant | NM_001024613.4(FEZF1):c.1220A>G (p.Lys407Arg) | Inborn genetic diseases [RCV004623191] | uncertain significance | 7 | 122302205 | 122302205 | Human | 1 | name |
| 598240899 | CV3959331 | single nucleotide variant | NM_001024613.4(FEZF1):c.1171A>T (p.Met391Leu) | Inborn genetic diseases [RCV005344254] | uncertain significance | 7 | 122302254 | 122302254 | Human | 1 | name |
| 150508581 | CV1214081 | insertion | NM_001024613.4(FEZF1):c.801+120_801+121insTCCC | not provided [RCV001596602] | likely benign | 7 | 122303516 | 122303517 | Human | | name |
| 150427788 | CV1187184 | insertion | NM_001024613.4(FEZF1):c.801+100_801+101insTCCCTCCCTCCT | not provided [RCV001561393] | likely benign | 7 | 122303536 | 122303537 | Human | | name |