| 405294374 | CV3214864 | single nucleotide variant | NM_014991.6(WDFY3):c.-9C>T | WDFY3-related disorder [RCV004532181] | likely benign | 4 | 84860600 | 84860600 | Human | | name , trait |
| 152058004 | CV1670665 | single nucleotide variant | NM_014991.6(WDFY3):c.-31-1G>C | not provided [RCV002226185] | uncertain significance | 4 | 84860623 | 84860623 | Human | | name |
| 405282454 | CV3212884 | duplication | NM_014991.6(WDFY3):c.577-3dup | WDFY3-related disorder [RCV004545500] | likely benign | 4 | 84831607 | 84831608 | Human | | name , trait |
| 40815860 | CV970493 | single nucleotide variant | NM_014991.6(WDFY3):c.957-2A>G | Microcephaly 18, primary, autosomal dominant [RCV001261955] | likely pathogenic | 4 | 84826983 | 84826983 | Human | 1 | name |
| 127287827 | CV1163184 | single nucleotide variant | NM_014991.6(WDFY3):c.4063-1G>T | Microcephaly 18, primary, autosomal dominant [RCV001527653] | pathogenic | 4 | 84783075 | 84783075 | Human | 1 | name |
| 150492697 | CV1225526 | duplication | NM_014991.6(WDFY3):c.3487+8dup | Microcephaly 18, primary, autosomal dominant [RCV002501975]|not provided [RCV001619042] | benign|likely benign | 4 | 84794502 | 84794503 | Human | 1 | name |
| 150532328 | CV1299519 | single nucleotide variant | NM_014991.6(WDFY3):c.1123+1G>A | not provided [RCV001752445] | uncertain significance | 4 | 84826814 | 84826814 | Human | | name |
| 150547453 | CV1316032 | deletion | NM_014991.6(WDFY3):c.9726+1del | Neurodevelopmental delay [RCV001785308] | likely pathogenic | 4 | 84683942 | 84683942 | Human | 1 | name |
| 152980069 | CV1678384 | single nucleotide variant | NM_014991.6(WDFY3):c.9726+6T>C | not specified [RCV002246889] | benign | 4 | 84683937 | 84683937 | Human | | name |
| 152999725 | CV1683292 | single nucleotide variant | NM_014991.6(WDFY3):c.770-10A>G | See cases [RCV002252476] | likely benign | 4 | 84829200 | 84829200 | Human | | name |
| 155644832 | CV1708823 | single nucleotide variant | NM_014991.6(WDFY3):c.2429+5T>G | not provided [RCV002291420] | uncertain significance | 4 | 84808329 | 84808329 | Human | | name |
| 155799917 | CV1862699 | single nucleotide variant | NM_014991.6(WDFY3):c.4518+7A>G | Microcephaly 18, primary, autosomal dominant [RCV002472106] | uncertain significance | 4 | 84778496 | 84778496 | Human | 1 | name |
| 155945968 | CV1935626 | single nucleotide variant | NM_014991.6(WDFY3):c.5424+5G>A | not provided [RCV002511374] | uncertain significance | 4 | 84756921 | 84756921 | Human | | name |
| 156401819 | CV2217798 | single nucleotide variant | NM_014991.6(WDFY3):c.7961+6G>A | Inborn genetic diseases [RCV002657134] | likely benign | 4 | 84715292 | 84715292 | Human | 1 | name |
| 156216706 | CV2253797 | single nucleotide variant | NM_014991.6(WDFY3):c.3168-1G>A | Inborn genetic diseases [RCV002804452] | uncertain significance | 4 | 84794980 | 84794980 | Human | 1 | name |
| 243054062 | CV2418397 | single nucleotide variant | NM_014991.6(WDFY3):c.2936-3C>T | not provided [RCV003154430] | uncertain significance | 4 | 84796755 | 84796755 | Human | | name |
| 401830612 | CV2473245 | single nucleotide variant | NM_014991.6(WDFY3):c.2345+1G>A | See cases [RCV003326040] | pathogenic | 4 | 84809886 | 84809886 | Human | | name |
| 401726691 | CV2736160 | single nucleotide variant | NM_014991.6(WDFY3):c.7272+2T>C | not provided [RCV003312607] | uncertain significance | 4 | 84726859 | 84726859 | Human | | name |
| 401829785 | CV2743962 | single nucleotide variant | NM_014991.6(WDFY3):c.7605+4T>C | WDFY3-related disorder [RCV004538943]|not provided [RCV003327139] | benign|likely benign | 4 | 84721405 | 84721405 | Human | 1 | name , trait |
| 401916079 | CV2795365 | single nucleotide variant | NM_014991.6(WDFY3):c.4592+1G>A | Neurodevelopmental disorder [RCV003389200] | uncertain significance | 4 | 84775064 | 84775064 | Human | 1 | name |
| 401923352 | CV2822623 | duplication | NM_014991.6(WDFY3):c.9363+6dup | WDFY3-related disorder [RCV004540675]|not provided [RCV003435055] | benign|likely benign | 4 | 84690499 | 84690500 | Human | 1 | name , trait |
| 401946331 | CV2839682 | single nucleotide variant | NM_014991.6(WDFY3):c.8901+1G>A | Microcephaly 18, primary, autosomal dominant [RCV003458988] | likely pathogenic | 4 | 84695969 | 84695969 | Human | 1 | name |
| 405282273 | CV3216340 | duplication | NM_014991.6(WDFY3):c.8098-5dup | WDFY3-related disorder [RCV004544043] | likely benign | 4 | 84709032 | 84709033 | Human | | name , trait |
| 407425324 | CV3409450 | single nucleotide variant | NM_014991.6(WDFY3):c.1888-5T>C | not provided [RCV004585382] | likely benign | 4 | 84810349 | 84810349 | Human | | name |
| 407425468 | CV3411267 | single nucleotide variant | NM_014991.6(WDFY3):c.3488-5T>G | not provided [RCV004588958] | uncertain significance | 4 | 84789912 | 84789912 | Human | | name |
| 408384648 | CV3504510 | single nucleotide variant | NM_014991.6(WDFY3):c.6993+2T>C | WDFY3-related disorder [RCV004731984] | likely pathogenic | 4 | 84735041 | 84735041 | Human | | name , trait |
| 597832655 | CV3734656 | deletion | NM_014991.6(WDFY3):c.5559+2del | Microcephaly 18, primary, autosomal dominant [RCV005054037] | uncertain significance | 4 | 84755264 | 84755264 | Human | 1 | name |
| 597926901 | CV3836852 | single nucleotide variant | NM_014991.6(WDFY3):c.7875+4A>T | not provided [RCV005185203] | uncertain significance | 4 | 84716892 | 84716892 | Human | | name |
| 598126443 | CV3886274 | single nucleotide variant | NM_014991.6(WDFY3):c.5424+3A>G | not provided [RCV005242077] | uncertain significance | 4 | 84756923 | 84756923 | Human | | name |
| 15100550 | CV777462 | single nucleotide variant | NM_014991.6(WDFY3):c.4063-9A>G | WDFY3-related disorder [RCV004533700]|not provided [RCV000958932] | benign | 4 | 84783083 | 84783083 | Human | 1 | name , trait |
| 150332627 | CV1169059 | single nucleotide variant | NM_014991.6(WDFY3):c.6915+43G>A | not provided [RCV001536976] | benign | 4 | 84736127 | 84736127 | Human | | name |
| 150462324 | CV1214628 | single nucleotide variant | NM_014991.6(WDFY3):c.6916-77A>G | not provided [RCV001613621] | benign | 4 | 84735197 | 84735197 | Human | | name |
| 150462378 | CV1214636 | deletion | NM_014991.6(WDFY3):c.1888-45del | not provided [RCV001613629] | benign | 4 | 84810389 | 84810389 | Human | | name |
| 150475969 | CV1216743 | duplication | NM_014991.6(WDFY3):c.7272+63dup | not provided [RCV001616036] | benign | 4 | 84726788 | 84726789 | Human | | name |
| 150501674 | CV1224249 | single nucleotide variant | NM_014991.6(WDFY3):c.4518+77T>C | not provided [RCV001620890] | benign | 4 | 84778426 | 84778426 | Human | | name |
| 150453892 | CV1232183 | single nucleotide variant | NM_014991.6(WDFY3):c.7606-56A>G | not provided [RCV001648196] | benign | 4 | 84718626 | 84718626 | Human | | name |
| 150487297 | CV1237310 | single nucleotide variant | NM_014991.6(WDFY3):c.9204+47T>C | Microcephaly 18, primary, autosomal dominant [RCV002243359]|not provided [RCV001654159] | benign | 4 | 84691584 | 84691584 | Human | 1 | name |
| 150486656 | CV1251392 | single nucleotide variant | NM_014991.6(WDFY3):c.6235-46T>C | not provided [RCV001674063] | benign | 4 | 84740462 | 84740462 | Human | | name |
| 150494861 | CV1256533 | deletion | NM_014991.6(WDFY3):c.8597-26del | not provided [RCV001675498] | benign | 4 | 84696849 | 84696849 | Human | | name |
| 150454768 | CV1259455 | single nucleotide variant | NM_014991.6(WDFY3):c.7962-96A>G | not provided [RCV001681229] | benign | 4 | 84713335 | 84713335 | Human | | name |
| 150448424 | CV1260683 | single nucleotide variant | NM_014991.6(WDFY3):c.7875+25T>A | not provided [RCV001680351] | benign | 4 | 84716871 | 84716871 | Human | | name |
| 150438711 | CV1264864 | single nucleotide variant | NM_014991.6(WDFY3):c.7754+62G>A | not provided [RCV001678857] | benign | 4 | 84718360 | 84718360 | Human | | name |
| 150465937 | CV1268691 | single nucleotide variant | NM_014991.6(WDFY3):c.5188+84C>A | not provided [RCV001694387] | benign | 4 | 84765726 | 84765726 | Human | | name |
| 150465982 | CV1268698 | single nucleotide variant | NM_014991.6(WDFY3):c.7272+60T>C | not provided [RCV001694394] | benign | 4 | 84726801 | 84726801 | Human | | name |
| 150467787 | CV1269290 | duplication | NM_014991.6(WDFY3):c.1888-59dup | not provided [RCV001694698] | benign | 4 | 84810388 | 84810389 | Human | | name |
| 150448925 | CV1270528 | single nucleotide variant | NM_014991.6(WDFY3):c.8042+48A>T | not provided [RCV001691666] | benign | 4 | 84713111 | 84713111 | Human | | name |
| 150461756 | CV1272922 | single nucleotide variant | NM_014991.6(WDFY3):c.7606-70G>A | not provided [RCV001693678] | benign | 4 | 84718640 | 84718640 | Human | | name |
| 150485893 | CV1273951 | single nucleotide variant | NM_014991.6(WDFY3):c.3669+55G>T | not provided [RCV001698828] | benign | 4 | 84789671 | 84789671 | Human | | name |
| 150450416 | CV1275804 | deletion | NM_014991.6(WDFY3):c.9205-99del | not provided [RCV001708259] | benign | 4 | 84690763 | 84690763 | Human | | name |
| 9687004 | CV171383 | single nucleotide variant | NM_014991.6(WDFY3):c.10260-7C>G | Prostate cancer [RCV000149223] | uncertain significance | 4 | 84677403 | 84677403 | Human | 2 | name |
| 243052423 | CV2404380 | single nucleotide variant | NM_014991.6(WDFY3):c.10147+2T>C | not provided [RCV003129406] | uncertain significance | 4 | 84678917 | 84678917 | Human | | name |
| 405280965 | CV3190700 | single nucleotide variant | NM_014991.6(WDFY3):c.3268+10A>G | WDFY3-related disorder [RCV004537010] | likely benign | 4 | 84794869 | 84794869 | Human | | name , trait |
| 405265928 | CV3215754 | single nucleotide variant | NM_014991.6(WDFY3):c.10260-4G>A | WDFY3-related disorder [RCV004542436] | likely benign | 4 | 84677400 | 84677400 | Human | | name , trait |
| 150330989 | CV1171289 | single nucleotide variant | NM_014991.6(WDFY3):c.8042+168G>T | not provided [RCV001538411] | benign | 4 | 84712991 | 84712991 | Human | | name |
| 150475193 | CV1217912 | single nucleotide variant | NM_014991.6(WDFY3):c.2935+201T>A | not provided [RCV001615923] | benign | 4 | 84797795 | 84797795 | Human | | name |
| 150483125 | CV1223538 | duplication | NM_014991.6(WDFY3):c.2345+170dup | not provided [RCV001617252] | benign | 4 | 84809702 | 84809703 | Human | | name |
| 150514915 | CV1228671 | single nucleotide variant | NM_014991.6(WDFY3):c.7442-218A>G | not provided [RCV001638659] | benign | 4 | 84721790 | 84721790 | Human | | name |
| 150460425 | CV1236249 | single nucleotide variant | NM_014991.6(WDFY3):c.9204+209C>T | not provided [RCV001649220] | benign | 4 | 84691422 | 84691422 | Human | | name |
| 150496967 | CV1236944 | single nucleotide variant | NM_014991.6(WDFY3):c.8217+143G>C | not provided [RCV001656008] | benign | 4 | 84708766 | 84708766 | Human | | name |
| 150489842 | CV1239015 | single nucleotide variant | NM_014991.6(WDFY3):c.8218-154T>C | not provided [RCV001654583] | benign | 4 | 84705665 | 84705665 | Human | | name |
| 150493323 | CV1257531 | single nucleotide variant | NM_014991.6(WDFY3):c.7962-188C>G | not provided [RCV001675204] | benign | 4 | 84713427 | 84713427 | Human | | name |
| 150444294 | CV1258497 | duplication | NM_014991.6(WDFY3):c.6757+171dup | not provided [RCV001679695] | benign | 4 | 84736994 | 84736995 | Human | | name |
| 150453619 | CV1260541 | single nucleotide variant | NM_014991.6(WDFY3):c.8042+180A>T | not provided [RCV001681033] | benign | 4 | 84712979 | 84712979 | Human | | name |
| 150448787 | CV1270511 | single nucleotide variant | NM_014991.6(WDFY3):c.6073+102T>G | not provided [RCV001691649] | benign | 4 | 84743598 | 84743598 | Human | | name |
| 150485662 | CV1273789 | single nucleotide variant | NM_014991.6(WDFY3):c.2345+126A>G | not provided [RCV001698782] | benign | 4 | 84809761 | 84809761 | Human | | name |
| 150463321 | CV1276208 | deletion | NM_014991.6(WDFY3):c.4755-107del | not provided [RCV001710153] | benign | 4 | 84773036 | 84773036 | Human | | name |
| 150453528 | CV1276858 | single nucleotide variant | NM_014991.6(WDFY3):c.8336-104T>C | not provided [RCV001708648] | benign | 4 | 84704548 | 84704548 | Human | | name |
| 150468193 | CV1277698 | single nucleotide variant | NM_014991.6(WDFY3):c.2608-145C>T | not provided [RCV001710993] | benign | 4 | 84802009 | 84802009 | Human | | name |
| 151663449 | CV1333963 | single nucleotide variant | NM_014991.6(WDFY3):c.9823+1507C>T | Microcephaly 18, primary, autosomal dominant [RCV001839137] | uncertain significance | 4 | 84680867 | 84680867 | Human | 1 | name |
| 405275345 | CV3204787 | single nucleotide variant | NM_014991.6(WDFY3):c.88C>A (p.Arg30=) | WDFY3-related disorder [RCV004544011] | likely benign | 4 | 84860504 | 84860504 | Human | | name , trait |
| 617150363 | CV4021729 | single nucleotide variant | NM_014991.6(WDFY3):c.99G>A (p.Thr33=) | not provided [RCV005425698] | likely benign | 4 | 84860493 | 84860493 | Human | | name |
| 150333311 | CV1169060 | single nucleotide variant | NM_014991.6(WDFY3):c.336A>G (p.Leu112=) | Microcephaly 18, primary, autosomal dominant [RCV002243297]|not provided [RCV001537269] | benign | 4 | 84841232 | 84841232 | Human | 1 | name |
| 150476109 | CV1263597 | deletion | NM_014991.6(WDFY3):c.3669+55_3669+56del | not provided [RCV001685120] | benign | 4 | 84789670 | 84789671 | Human | | name |
| 150555708 | CV1304863 | single nucleotide variant | NM_014991.6(WDFY3):c.29G>A (p.Arg10Gln) | not provided [RCV001773111] | uncertain significance | 4 | 84860563 | 84860563 | Human | | name |
| 329359572 | CV2446330 | single nucleotide variant | NM_014991.6(WDFY3):c.85C>T (p.Arg29Cys) | Inborn genetic diseases [RCV003179491] | likely benign | 4 | 84860507 | 84860507 | Human | 1 | name |
| 329384584 | CV2472876 | single nucleotide variant | NM_014991.6(WDFY3):c.32C>T (p.Pro11Leu) | not provided [RCV003214178] | uncertain significance | 4 | 84860560 | 84860560 | Human | | name |
| 401928273 | CV2822649 | single nucleotide variant | NM_014991.6(WDFY3):c.894A>G (p.Gln298=) | WDFY3-related disorder [RCV004536811]|not provided [RCV003439383] | likely benign | 4 | 84829066 | 84829066 | Human | 1 | name , trait |
| 401928275 | CV2822650 | single nucleotide variant | NM_014991.6(WDFY3):c.795T>G (p.Val265=) | WDFY3-related disorder [RCV004536812]|not provided [RCV003439384] | likely benign | 4 | 84829165 | 84829165 | Human | 1 | name , trait |
| 401913337 | CV2830331 | single nucleotide variant | NM_014991.6(WDFY3):c.47G>T (p.Cys16Phe) | not provided [RCV003441546] | uncertain significance | 4 | 84860545 | 84860545 | Human | | name |
| 405280259 | CV3191709 | single nucleotide variant | NM_014991.6(WDFY3):c.309T>C (p.Ala103=) | WDFY3-related disorder [RCV004539434] | likely benign | 4 | 84841259 | 84841259 | Human | | name , trait |
| 596922799 | CV3530104 | single nucleotide variant | NM_014991.6(WDFY3):c.32C>A (p.Pro11Gln) | not provided [RCV004776703] | uncertain significance | 4 | 84860560 | 84860560 | Human | | name |
| 596924761 | CV3532408 | single nucleotide variant | NM_014991.6(WDFY3):c.97A>C (p.Thr33Pro) | not provided [RCV004777519] | uncertain significance | 4 | 84860495 | 84860495 | Human | | name |
| 150549538 | CV1299511 | single nucleotide variant | NM_014991.6(WDFY3):c.163C>G (p.Leu55Val) | not provided [RCV001752437] | uncertain significance | 4 | 84860429 | 84860429 | Human | | name |
| 150555911 | CV1305414 | deletion | NM_014991.6(WDFY3):c.642del (p.Gln214fs) | not provided [RCV001773347] | uncertain significance | 4 | 84831540 | 84831540 | Human | | name |
| 155644762 | CV1710381 | single nucleotide variant | NM_014991.6(WDFY3):c.247C>A (p.Gln83Lys) | not provided [RCV002293677] | uncertain significance | 4 | 84849959 | 84849959 | Human | | name |
| 156019055 | CV2233358 | single nucleotide variant | NM_014991.6(WDFY3):c.244A>G (p.Thr82Ala) | Inborn genetic diseases [RCV002757143] | uncertain significance | 4 | 84849962 | 84849962 | Human | 1 | name |
| 156067326 | CV2317915 | single nucleotide variant | NM_014991.6(WDFY3):c.100G>A (p.Glu34Lys) | Inborn genetic diseases [RCV002925414] | uncertain significance | 4 | 84860492 | 84860492 | Human | 1 | name |
| 329379665 | CV2456391 | single nucleotide variant | NM_014991.6(WDFY3):c.212C>T (p.Thr71Ile) | Inborn genetic diseases [RCV003212533] | uncertain significance | 4 | 84849994 | 84849994 | Human | 1 | name |
| 329350867 | CV2477697 | single nucleotide variant | NM_014991.6(WDFY3):c.115C>G (p.Pro39Ala) | not provided [RCV003223809] | uncertain significance | 4 | 84860477 | 84860477 | Human | | name |
| 401734387 | CV2690573 | single nucleotide variant | NM_014991.6(WDFY3):c.112C>A (p.Pro38Thr) | Inborn genetic diseases [RCV003249473] | uncertain significance | 4 | 84860480 | 84860480 | Human | 1 | name |
| 401873006 | CV2749707 | single nucleotide variant | NM_014991.6(WDFY3):c.292A>C (p.Asn98His) | not provided [RCV003332836] | uncertain significance | 4 | 84849914 | 84849914 | Human | | name |
| 401928265 | CV2822640 | single nucleotide variant | NM_014991.6(WDFY3):c.2710C>T (p.Leu904=) | not provided [RCV003439379] | likely benign | 4 | 84801762 | 84801762 | Human | | name |
| 401923404 | CV2822641 | single nucleotide variant | NM_014991.6(WDFY3):c.2484C>T (p.Ala828=) | not provided [RCV003435067] | likely benign | 4 | 84803413 | 84803413 | Human | | name |
| 401923407 | CV2822644 | single nucleotide variant | NM_014991.6(WDFY3):c.2310T>A (p.Ile770=) | not provided [RCV003435069] | likely benign | 4 | 84809922 | 84809922 | Human | | name |
| 401923408 | CV2822647 | single nucleotide variant | NM_014991.6(WDFY3):c.1308A>G (p.Lys436=) | not provided [RCV003435070] | benign | 4 | 84821367 | 84821367 | Human | | name |
| 405007312 | CV2853088 | single nucleotide variant | NM_014991.6(WDFY3):c.217A>T (p.Lys73Ter) | not specified [RCV003494282] | uncertain significance | 4 | 84849989 | 84849989 | Human | | name |
| 405744561 | CV3226130 | single nucleotide variant | NM_014991.6(WDFY3):c.290C>G (p.Ser97Ter) | Microcephaly 18, primary, autosomal dominant [RCV003991121] | likely pathogenic | 4 | 84849916 | 84849916 | Human | 1 | name |
| 405802063 | CV3349008 | single nucleotide variant | NM_014991.6(WDFY3):c.128C>T (p.Thr43Ile) | Inborn genetic diseases [RCV004478083] | uncertain significance | 4 | 84860464 | 84860464 | Human | 1 | name |
| 407451183 | CV3489613 | single nucleotide variant | NM_014991.6(WDFY3):c.157A>G (p.Met53Val) | Inborn genetic diseases [RCV004683577] | uncertain significance | 4 | 84860435 | 84860435 | Human | 1 | name |
| 408391721 | CV3523348 | single nucleotide variant | NM_014991.6(WDFY3):c.235C>T (p.Gln79Ter) | not provided [RCV004770721] | pathogenic | 4 | 84849971 | 84849971 | Human | | name |
| 596929675 | CV3531102 | single nucleotide variant | NM_014991.6(WDFY3):c.179G>A (p.Arg60Lys) | not provided [RCV004779676] | uncertain significance | 4 | 84860413 | 84860413 | Human | | name |
| 596924902 | CV3536808 | single nucleotide variant | NM_014991.6(WDFY3):c.115C>A (p.Pro39Thr) | Microcephaly 18, primary, autosomal dominant [RCV004785802] | uncertain significance | 4 | 84860477 | 84860477 | Human | 1 | name |
| 597630288 | CV3623789 | single nucleotide variant | NM_014991.6(WDFY3):c.200C>T (p.Pro67Leu) | Inborn genetic diseases [RCV004967279] | uncertain significance | 4 | 84850006 | 84850006 | Human | 1 | name |
| 598125608 | CV3885841 | single nucleotide variant | NM_014991.6(WDFY3):c.113C>A (p.Pro38His) | not provided [RCV005241644] | uncertain significance | 4 | 84860479 | 84860479 | Human | | name |
| 617154267 | CV4022693 | single nucleotide variant | NM_014991.6(WDFY3):c.263T>C (p.Met88Thr) | not provided [RCV005430051] | uncertain significance | 4 | 84849943 | 84849943 | Human | | name |
| 126738217 | CV1000441 | single nucleotide variant | NM_014991.6(WDFY3):c.3732G>A (p.Thr1244=) | WDFY3-related disorder [RCV004531097]|not provided [RCV001312043] | benign|likely benign | 4 | 84787651 | 84787651 | Human | 1 | name , trait |
| 150445369 | CV1233166 | deletion | NM_014991.6(WDFY3):c.6758-210_6758-207del | not provided [RCV001645839] | benign | 4 | 84736534 | 84736537 | Human | | name |
| 150481367 | CV1279731 | single nucleotide variant | NM_014991.6(WDFY3):c.3744C>T (p.Tyr1248=) | WDFY3-related disorder [RCV004542091]|not provided [RCV001714832] | benign | 4 | 84787639 | 84787639 | Human | 1 | name , trait |
| 150551969 | CV1296344 | single nucleotide variant | NM_014991.6(WDFY3):c.631G>C (p.Asp211His) | not provided [RCV001767355] | uncertain significance | 4 | 84831551 | 84831551 | Human | | name |
| 150531177 | CV1299325 | single nucleotide variant | NM_014991.6(WDFY3):c.839T>G (p.Val280Gly) | not provided [RCV001757018] | uncertain significance | 4 | 84829121 | 84829121 | Human | | name |
| 150547390 | CV1316002 | single nucleotide variant | NM_014991.6(WDFY3):c.841G>T (p.Glu281Ter) | Neurodevelopmental delay [RCV001785278] | likely pathogenic | 4 | 84829119 | 84829119 | Human | 1 | name |
| 150547400 | CV1316006 | deletion | NM_014991.6(WDFY3):c.1990del (p.Ser664fs) | Neurodevelopmental delay [RCV001785282] | likely pathogenic | 4 | 84810242 | 84810242 | Human | 1 | name |
| 151349876 | CV1325485 | single nucleotide variant | NM_014991.6(WDFY3):c.952C>T (p.Leu318Phe) | not provided [RCV001814771] | uncertain significance | 4 | 84829008 | 84829008 | Human | | name |
| 151663689 | CV1334155 | single nucleotide variant | NM_014991.6(WDFY3):c.853G>A (p.Gly285Arg) | not provided [RCV001839329] | uncertain significance | 4 | 84829107 | 84829107 | Human | | name |
| 153002355 | CV1685490 | single nucleotide variant | NM_014991.6(WDFY3):c.937C>T (p.Leu313Phe) | not provided [RCV002259477] | uncertain significance | 4 | 84829023 | 84829023 | Human | | name |
| 153301803 | CV1685864 | single nucleotide variant | NM_014991.6(WDFY3):c.602T>C (p.Val201Ala) | not provided [RCV002260841] | uncertain significance | 4 | 84831580 | 84831580 | Human | | name |
| 153305682 | CV1688732 | single nucleotide variant | NM_014991.6(WDFY3):c.6576G>A (p.Gly2192=) | not specified [RCV002266471] | uncertain significance | 4 | 84737365 | 84737365 | Human | | name |
| 153348671 | CV1692715 | single nucleotide variant | NM_014991.6(WDFY3):c.497T>C (p.Val166Ala) | not provided [RCV002274571] | uncertain significance | 4 | 84837008 | 84837008 | Human | | name |
| 155641986 | CV1710009 | single nucleotide variant | NM_014991.6(WDFY3):c.545G>A (p.Arg182His) | Inborn genetic diseases [RCV003097824]|not provided [RCV002293109] | uncertain significance | 4 | 84836960 | 84836960 | Human | 1 | name |
| 155803570 | CV1858132 | single nucleotide variant | NM_014991.6(WDFY3):c.704C>G (p.Ala235Gly) | not provided [RCV002462441] | uncertain significance | 4 | 84831478 | 84831478 | Human | | name |
| 155803686 | CV1858252 | single nucleotide variant | NM_014991.6(WDFY3):c.440T>C (p.Met147Thr) | not provided [RCV002462561] | uncertain significance | 4 | 84837065 | 84837065 | Human | | name |
| 156165541 | CV1866867 | single nucleotide variant | NM_014991.6(WDFY3):c.787A>T (p.Thr263Ser) | not provided [RCV002508419] | uncertain significance | 4 | 84829173 | 84829173 | Human | | name |
| 155959212 | CV1936436 | single nucleotide variant | NM_014991.6(WDFY3):c.6798G>A (p.Ala2266=) | not provided [RCV002512252] | likely benign | 4 | 84736287 | 84736287 | Human | | name |
| 156153981 | CV2209488 | single nucleotide variant | NM_014991.6(WDFY3):c.835A>G (p.Ile279Val) | Inborn genetic diseases [RCV002697823] | uncertain significance | 4 | 84829125 | 84829125 | Human | 1 | name |
| 156332076 | CV2220621 | single nucleotide variant | NM_014991.6(WDFY3):c.396G>T (p.Leu132Phe) | Inborn genetic diseases [RCV002718112] | uncertain significance | 4 | 84841172 | 84841172 | Human | 1 | name |
| 156001824 | CV2284527 | single nucleotide variant | NM_014991.6(WDFY3):c.517G>A (p.Ala173Thr) | Inborn genetic diseases [RCV002865426]|WDFY3-related disorder [RCV004538868] | likely benign|uncertain significance | 4 | 84836988 | 84836988 | Human | 2 | name , trait |
| 156439961 | CV2401645 | single nucleotide variant | NM_014991.6(WDFY3):c.601G>C (p.Val201Leu) | not provided [RCV003109933] | uncertain significance | 4 | 84831581 | 84831581 | Human | | name |
| 329394601 | CV2472890 | single nucleotide variant | NM_014991.6(WDFY3):c.974A>G (p.Glu325Gly) | not provided [RCV003218873] | uncertain significance | 4 | 84826964 | 84826964 | Human | | name |
| 329350837 | CV2477669 | single nucleotide variant | NM_014991.6(WDFY3):c.622G>A (p.Ala208Thr) | not provided [RCV003223781] | uncertain significance | 4 | 84831560 | 84831560 | Human | | name |
| 329847011 | CV2524099 | single nucleotide variant | NM_014991.6(WDFY3):c.410G>A (p.Gly137Asp) | not specified [RCV003226804] | uncertain significance | 4 | 84841158 | 84841158 | Human | | name |
| 401739920 | CV2738646 | single nucleotide variant | NM_014991.6(WDFY3):c.6246A>G (p.Arg2082=) | not provided [RCV003318040] | uncertain significance | 4 | 84740405 | 84740405 | Human | | name |
| 401740013 | CV2738660 | single nucleotide variant | NM_014991.6(WDFY3):c.505G>C (p.Ala169Pro) | not provided [RCV003318054] | uncertain significance | 4 | 84837000 | 84837000 | Human | | name |
| 401830541 | CV2748224 | single nucleotide variant | NM_014991.6(WDFY3):c.974A>T (p.Glu325Val) | not provided [RCV003329831] | uncertain significance | 4 | 84826964 | 84826964 | Human | | name |
| 401905123 | CV2800459 | single nucleotide variant | NM_014991.6(WDFY3):c.913C>T (p.Arg305Trp) | WDFY3-related disorder [RCV004529685]|not provided [RCV003720882] | uncertain significance | 4 | 84829047 | 84829047 | Human | 1 | name , trait |
| 401923388 | CV2822624 | single nucleotide variant | NM_014991.6(WDFY3):c.9306G>A (p.Val3102=) | not provided [RCV003435056] | likely benign | 4 | 84690563 | 84690563 | Human | | name |
| 401923390 | CV2822625 | single nucleotide variant | NM_014991.6(WDFY3):c.9165A>G (p.Ala3055=) | not provided [RCV003435057] | likely benign | 4 | 84691670 | 84691670 | Human | | name |
| 401923391 | CV2822626 | single nucleotide variant | NM_014991.6(WDFY3):c.8883C>T (p.Phe2961=) | not provided [RCV003435058] | likely benign | 4 | 84695988 | 84695988 | Human | | name |
| 401928255 | CV2822627 | single nucleotide variant | NM_014991.6(WDFY3):c.7974A>G (p.Val2658=) | not provided [RCV003439374] | likely benign | 4 | 84713227 | 84713227 | Human | | name |
| 401923392 | CV2822628 | single nucleotide variant | NM_014991.6(WDFY3):c.7815A>G (p.Thr2605=) | WDFY3-related disorder [RCV004540676]|not provided [RCV003435059] | likely benign | 4 | 84716956 | 84716956 | Human | 1 | name , trait |
| 401923394 | CV2822629 | single nucleotide variant | NM_014991.6(WDFY3):c.7282C>A (p.Arg2428=) | not provided [RCV003435060] | likely benign | 4 | 84724585 | 84724585 | Human | | name |
| 401928258 | CV2822630 | single nucleotide variant | NM_014991.6(WDFY3):c.7137G>A (p.Arg2379=) | not provided [RCV003439375] | likely benign | 4 | 84733466 | 84733466 | Human | | name |
| 401928260 | CV2822632 | single nucleotide variant | NM_014991.6(WDFY3):c.6036C>T (p.Ser2012=) | not provided [RCV003439376] | likely benign | 4 | 84743737 | 84743737 | Human | | name |
| 401923397 | CV2822633 | single nucleotide variant | NM_014991.6(WDFY3):c.5871G>A (p.Pro1957=) | not provided [RCV003435062] | likely benign | 4 | 84751585 | 84751585 | Human | | name |
| 401928262 | CV2822634 | single nucleotide variant | NM_014991.6(WDFY3):c.5643C>T (p.Asn1881=) | not provided [RCV003439377] | likely benign | 4 | 84753793 | 84753793 | Human | | name |
| 401923400 | CV2822637 | single nucleotide variant | NM_014991.6(WDFY3):c.4458A>G (p.Gly1486=) | not provided [RCV003435064] | likely benign | 4 | 84778563 | 84778563 | Human | | name |
| 401923401 | CV2822638 | single nucleotide variant | NM_014991.6(WDFY3):c.3693A>G (p.Pro1231=) | not provided [RCV003435065] | benign | 4 | 84787690 | 84787690 | Human | | name |
| 401913164 | CV2830232 | single nucleotide variant | NM_014991.6(WDFY3):c.522G>C (p.Gln174His) | not provided [RCV003441447] | uncertain significance | 4 | 84836983 | 84836983 | Human | | name |
| 405269333 | CV3187294 | single nucleotide variant | NM_014991.6(WDFY3):c.976G>T (p.Ala326Ser) | not provided [RCV003887378] | uncertain significance | 4 | 84826962 | 84826962 | Human | | name |
| 405260281 | CV3190343 | single nucleotide variant | NM_014991.6(WDFY3):c.317G>A (p.Arg106Gln) | WDFY3-related disorder [RCV004536877] | uncertain significance | 4 | 84841251 | 84841251 | Human | | name , trait |
| 405283178 | CV3191275 | single nucleotide variant | NM_014991.6(WDFY3):c.7041C>A (p.Ile2347=) | WDFY3-related disorder [RCV004539303] | likely benign | 4 | 84733562 | 84733562 | Human | | name , trait |
| 405293487 | CV3192656 | single nucleotide variant | NM_014991.6(WDFY3):c.3291C>G (p.Pro1097=) | WDFY3-related disorder [RCV004532079] | likely benign | 4 | 84794715 | 84794715 | Human | | name , trait |
| 405292744 | CV3193082 | single nucleotide variant | NM_014991.6(WDFY3):c.5124C>T (p.Leu1708=) | WDFY3-related disorder [RCV004540980] | likely benign | 4 | 84765874 | 84765874 | Human | | name , trait |
| 405274196 | CV3195023 | single nucleotide variant | NM_014991.6(WDFY3):c.6486G>A (p.Leu2162=) | WDFY3-related disorder [RCV004534615] | likely benign | 4 | 84739098 | 84739098 | Human | | name , trait |
| 405279749 | CV3200099 | single nucleotide variant | NM_014991.6(WDFY3):c.6981A>G (p.Lys2327=) | WDFY3-related disorder [RCV004542488] | likely benign | 4 | 84735055 | 84735055 | Human | | name , trait |
| 405268869 | CV3201183 | single nucleotide variant | NM_014991.6(WDFY3):c.8745C>T (p.Phe2915=) | WDFY3-related disorder [RCV004531855] | likely benign | 4 | 84696126 | 84696126 | Human | | name , trait |
| 405291015 | CV3203666 | single nucleotide variant | NM_014991.6(WDFY3):c.401C>T (p.Ala134Val) | WDFY3-related disorder [RCV004532262] | uncertain significance | 4 | 84841167 | 84841167 | Human | | name , trait |
| 405275123 | CV3204595 | single nucleotide variant | NM_014991.6(WDFY3):c.8505G>A (p.Ala2835=) | WDFY3-related disorder [RCV004543995] | benign | 4 | 84702444 | 84702444 | Human | | name , trait |
| 405289637 | CV3205232 | single nucleotide variant | NM_014991.6(WDFY3):c.4299C>T (p.Ala1433=) | WDFY3-related disorder [RCV004544129] | likely benign | 4 | 84780174 | 84780174 | Human | | name , trait |
| 405256124 | CV3208690 | single nucleotide variant | NM_014991.6(WDFY3):c.7650C>T (p.Thr2550=) | WDFY3-related disorder [RCV004532256] | likely benign | 4 | 84718526 | 84718526 | Human | | name , trait |
| 405294542 | CV3209012 | single nucleotide variant | NM_014991.6(WDFY3):c.8385T>A (p.Ile2795=) | WDFY3-related disorder [RCV004542380] | benign | 4 | 84704395 | 84704395 | Human | | name , trait |
| 405287912 | CV3214676 | single nucleotide variant | NM_014991.6(WDFY3):c.9663G>A (p.Ser3221=) | WDFY3-related disorder [RCV004532170] | benign | 4 | 84684006 | 84684006 | Human | | name , trait |
| 405294272 | CV3214730 | single nucleotide variant | NM_014991.6(WDFY3):c.8613C>T (p.Gly2871=) | WDFY3-related disorder [RCV004532174] | likely benign | 4 | 84696807 | 84696807 | Human | | name , trait |
| 405283224 | CV3218531 | single nucleotide variant | NM_014991.6(WDFY3):c.7302T>C (p.Ser2434=) | WDFY3-related disorder [RCV004545527] | likely benign | 4 | 84724565 | 84724565 | Human | | name , trait |
| 405289633 | CV3220974 | single nucleotide variant | NM_014991.6(WDFY3):c.5583A>G (p.Gly1861=) | WDFY3-related disorder [RCV004545609] | likely benign | 4 | 84753853 | 84753853 | Human | | name , trait |
| 405281632 | CV3224251 | single nucleotide variant | NM_014991.6(WDFY3):c.5424G>A (p.Gln1808=) | WDFY3-related disorder [RCV003988633] | not provided | 4 | 84756926 | 84756926 | Human | | name , trait |
| 405802055 | CV3349012 | deletion | NM_014991.6(WDFY3):c.2883del (p.Lys961fs) | Inborn genetic diseases [RCV004478087] | pathogenic | 4 | 84798048 | 84798048 | Human | 1 | name |
| 405801934 | CV3349015 | single nucleotide variant | NM_014991.6(WDFY3):c.388A>G (p.Ile130Val) | Inborn genetic diseases [RCV004478090] | uncertain significance | 4 | 84841180 | 84841180 | Human | 1 | name |
| 407425098 | CV3411105 | single nucleotide variant | NM_014991.6(WDFY3):c.392A>G (p.Asn131Ser) | not provided [RCV004588795] | uncertain significance | 4 | 84841176 | 84841176 | Human | | name |
| 408367582 | CV3509033 | single nucleotide variant | NM_014991.6(WDFY3):c.5313C>G (p.Ala1771=) | WDFY3-related disorder [RCV004758993] | likely benign | 4 | 84757037 | 84757037 | Human | | name , trait |
| 408386949 | CV3518624 | single nucleotide variant | NM_014991.6(WDFY3):c.6339A>G (p.Gln2113=) | not provided [RCV004760943] | uncertain significance | 4 | 84740312 | 84740312 | Human | | name |
| 408387622 | CV3518914 | single nucleotide variant | NM_014991.6(WDFY3):c.5406G>A (p.Arg1802=) | not provided [RCV004761233] | uncertain significance | 4 | 84756944 | 84756944 | Human | | name |
| 408390703 | CV3520973 | single nucleotide variant | NM_014991.6(WDFY3):c.533C>A (p.Pro178His) | not provided [RCV004762795] | uncertain significance | 4 | 84836972 | 84836972 | Human | | name |
| 408381116 | CV3523766 | single nucleotide variant | NM_014991.6(WDFY3):c.867C>G (p.Phe289Leu) | not provided [RCV004766164] | uncertain significance | 4 | 84829093 | 84829093 | Human | | name |
| 596925424 | CV3530472 | single nucleotide variant | NM_014991.6(WDFY3):c.607C>T (p.Pro203Ser) | not provided [RCV004778057] | uncertain significance | 4 | 84831575 | 84831575 | Human | | name |
| 596942532 | CV3544151 | single nucleotide variant | NM_014991.6(WDFY3):c.6822C>G (p.Ser2274=) | not specified [RCV004800142] | likely benign | 4 | 84736263 | 84736263 | Human | | name |
| 597632096 | CV3552778 | single nucleotide variant | NM_014991.6(WDFY3):c.661A>G (p.Thr221Ala) | not provided [RCV004823606] | uncertain significance | 4 | 84831521 | 84831521 | Human | | name |
| 597630340 | CV3623802 | single nucleotide variant | NM_014991.6(WDFY3):c.706G>A (p.Gly236Arg) | Inborn genetic diseases [RCV004967292] | uncertain significance | 4 | 84831476 | 84831476 | Human | 1 | name |
| 597717051 | CV3733313 | single nucleotide variant | NM_014991.6(WDFY3):c.515G>C (p.Gly172Ala) | not provided [RCV005052503] | uncertain significance | 4 | 84836990 | 84836990 | Human | | name |
| 597935483 | CV3863693 | single nucleotide variant | NM_014991.6(WDFY3):c.760T>C (p.Tyr254His) | not provided [RCV005207506] | uncertain significance | 4 | 84831422 | 84831422 | Human | | name |
| 598123452 | CV3890345 | single nucleotide variant | NM_014991.6(WDFY3):c.330G>T (p.Gln110His) | not provided [RCV005250864] | uncertain significance | 4 | 84841238 | 84841238 | Human | | name |
| 13518816 | CV486360 | single nucleotide variant | NM_014991.6(WDFY3):c.676C>G (p.Pro226Ala) | not provided [RCV000585135] | uncertain significance | 4 | 84831506 | 84831506 | Human | | name |
| 15168518 | CV698660 | single nucleotide variant | NM_014991.6(WDFY3):c.383C>T (p.Thr128Met) | not provided [RCV000949274] | benign | 4 | 84841185 | 84841185 | Human | | name |
| 15127019 | CV709488 | single nucleotide variant | NM_014991.6(WDFY3):c.8028G>A (p.Thr2676=) | WDFY3-related disorder [RCV004543613]|not provided [RCV000963834] | benign | 4 | 84713173 | 84713173 | Human | 1 | name , trait |
| 15192738 | CV734746 | single nucleotide variant | NM_014991.6(WDFY3):c.9546G>A (p.Gly3182=) | not provided [RCV000910631] | likely benign | 4 | 84684123 | 84684123 | Human | | name |
| 15141231 | CV749089 | single nucleotide variant | NM_014991.6(WDFY3):c.6690C>T (p.His2230=) | WDFY3-related disorder [RCV004543460]|not provided [RCV000921808] | benign|likely benign | 4 | 84737251 | 84737251 | Human | 1 | name , trait |
| 38598498 | CV964236 | single nucleotide variant | NM_014991.6(WDFY3):c.749A>G (p.Asn250Ser) | Neurodevelopmental delay [RCV001780203]|not provided [RCV003166578] | likely pathogenic|uncertain significance | 4 | 84831433 | 84831433 | Human | 1 | name |
| 126737794 | CV1016446 | single nucleotide variant | NM_014991.6(WDFY3):c.1150T>G (p.Phe384Val) | Microcephaly 18, primary, autosomal dominant [RCV001328824] | uncertain significance | 4 | 84821525 | 84821525 | Human | 1 | name |
| 150414353 | CV1197248 | single nucleotide variant | NM_014991.6(WDFY3):c.2941A>C (p.Met981Leu) | Inborn genetic diseases [RCV004039432]|not provided [RCV001574919] | uncertain significance | 4 | 84796747 | 84796747 | Human | 1 | name |
| 150555112 | CV1295926 | single nucleotide variant | NM_014991.6(WDFY3):c.2689G>A (p.Glu897Lys) | not provided [RCV001772435] | uncertain significance | 4 | 84801783 | 84801783 | Human | | name |
| 150530792 | CV1299091 | deletion | NM_014991.6(WDFY3):c.4640del (p.Pro1547fs) | not provided [RCV001756784] | uncertain significance | 4 | 84774934 | 84774934 | Human | | name |
| 150534570 | CV1300652 | single nucleotide variant | NM_014991.6(WDFY3):c.1309C>T (p.Leu437Phe) | not provided [RCV001758780] | uncertain significance | 4 | 84821366 | 84821366 | Human | | name |
| 150542042 | CV1302468 | single nucleotide variant | NM_014991.6(WDFY3):c.2128A>T (p.Ile710Phe) | not provided [RCV001761158] | uncertain significance | 4 | 84810104 | 84810104 | Human | | name |
| 150554608 | CV1304324 | single nucleotide variant | NM_014991.6(WDFY3):c.1475A>G (p.His492Arg) | not provided [RCV001771294] | uncertain significance | 4 | 84821200 | 84821200 | Human | | name |
| 151234803 | CV1320524 | single nucleotide variant | NM_014991.6(WDFY3):c.2171G>C (p.Cys724Ser) | not provided [RCV001800148] | uncertain significance | 4 | 84810061 | 84810061 | Human | | name |
| 151741168 | CV1392392 | single nucleotide variant | NM_014991.6(WDFY3):c.1316A>C (p.Glu439Ala) | not provided [RCV001871035] | uncertain significance | 4 | 84821359 | 84821359 | Human | | name |
| 151825452 | CV1452920 | single nucleotide variant | NM_014991.6(WDFY3):c.1613C>T (p.Ser538Leu) | not provided [RCV002050211] | uncertain significance | 4 | 84820165 | 84820165 | Human | | name |
| 153302061 | CV1688047 | single nucleotide variant | NM_014991.6(WDFY3):c.1445C>T (p.Ala482Val) | not provided [RCV002265273] | uncertain significance | 4 | 84821230 | 84821230 | Human | | name |
| 153348132 | CV1695181 | single nucleotide variant | NM_014991.6(WDFY3):c.2477A>G (p.Asn826Ser) | not provided [RCV002279112] | uncertain significance | 4 | 84803420 | 84803420 | Human | | name |
| 155267004 | CV1696449 | single nucleotide variant | NM_014991.6(WDFY3):c.1190G>T (p.Ser397Ile) | not provided [RCV002281307] | uncertain significance | 4 | 84821485 | 84821485 | Human | | name |
| 155266687 | CV1699252 | single nucleotide variant | NM_014991.6(WDFY3):c.1000G>A (p.Asp334Asn) | not provided [RCV002283047] | uncertain significance | 4 | 84826938 | 84826938 | Human | | name |
| 155641723 | CV1707113 | single nucleotide variant | NM_014991.6(WDFY3):c.1199C>A (p.Ala400Asp) | not provided [RCV002288043] | uncertain significance | 4 | 84821476 | 84821476 | Human | | name |
| 155643646 | CV1707999 | single nucleotide variant | NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter) | Microcephaly 18, primary, autosomal dominant [RCV002289460] | likely pathogenic | 4 | 84801687 | 84801687 | Human | 1 | name |
| 9687005 | CV171384 | single nucleotide variant | NM_014991.6(WDFY3):c.2630C>A (p.Ala877Asp) | Prostate cancer [RCV000149224] | uncertain significance | 4 | 84801842 | 84801842 | Human | 2 | name |
| 155714464 | CV1760350 | single nucleotide variant | NM_014991.6(WDFY3):c.1547A>T (p.Tyr516Phe) | not provided [RCV002300856] | uncertain significance | 4 | 84821128 | 84821128 | Human | | name |
| 155798250 | CV1863513 | single nucleotide variant | NM_014991.6(WDFY3):c.2099C>T (p.Pro700Leu) | not provided [RCV002473408] | uncertain significance | 4 | 84810133 | 84810133 | Human | | name |
| 156168389 | CV1866983 | single nucleotide variant | NM_014991.6(WDFY3):c.2725A>T (p.Ser909Cys) | not provided [RCV002508535] | uncertain significance | 4 | 84801747 | 84801747 | Human | | name |
| 156212754 | CV2088724 | single nucleotide variant | NM_014991.6(WDFY3):c.1838T>C (p.Met613Thr) | not provided [RCV002893863] | uncertain significance | 4 | 84817441 | 84817441 | Human | | name |
| 156249981 | CV2192747 | single nucleotide variant | NM_014991.6(WDFY3):c.1331A>C (p.Tyr444Ser) | not provided [RCV003059989] | uncertain significance | 4 | 84821344 | 84821344 | Human | | name |
| 156380467 | CV2208836 | single nucleotide variant | NM_014991.6(WDFY3):c.1141G>A (p.Val381Ile) | Inborn genetic diseases [RCV002678600] | likely benign | 4 | 84821534 | 84821534 | Human | 1 | name |
| 156044990 | CV2215975 | deletion | NM_014991.6(WDFY3):c.9597del (p.Asn3200fs) | Inborn genetic diseases [RCV002692509] | pathogenic | 4 | 84684072 | 84684072 | Human | 1 | name |
| 156280627 | CV2224192 | single nucleotide variant | NM_014991.6(WDFY3):c.2968A>G (p.Thr990Ala) | Inborn genetic diseases [RCV002747075] | uncertain significance | 4 | 84796720 | 84796720 | Human | 1 | name |
| 156300562 | CV2244931 | single nucleotide variant | NM_014991.6(WDFY3):c.2963T>C (p.Leu988Pro) | Inborn genetic diseases [RCV002748504] | uncertain significance | 4 | 84796725 | 84796725 | Human | 1 | name |
| 156234183 | CV2245322 | single nucleotide variant | NM_014991.6(WDFY3):c.2455C>A (p.Pro819Thr) | Inborn genetic diseases [RCV002767850] | uncertain significance | 4 | 84803442 | 84803442 | Human | 1 | name |
| 156335894 | CV2273063 | single nucleotide variant | NM_014991.6(WDFY3):c.2393C>T (p.Pro798Leu) | Inborn genetic diseases [RCV002835742] | likely benign | 4 | 84808370 | 84808370 | Human | 1 | name |
| 156031430 | CV2274929 | single nucleotide variant | NM_014991.6(WDFY3):c.2857G>A (p.Gly953Ser) | Inborn genetic diseases [RCV002845411] | uncertain significance | 4 | 84798074 | 84798074 | Human | 1 | name |
| 155920167 | CV2279549 | single nucleotide variant | NM_014991.6(WDFY3):c.1103T>G (p.Val368Gly) | Inborn genetic diseases [RCV002859560] | uncertain significance | 4 | 84826835 | 84826835 | Human | 1 | name |
| 156128007 | CV2283842 | single nucleotide variant | NM_014991.6(WDFY3):c.2639A>G (p.Asn880Ser) | Inborn genetic diseases [RCV002849506] | uncertain significance | 4 | 84801833 | 84801833 | Human | 1 | name |
| 155954255 | CV2303332 | single nucleotide variant | NM_014991.6(WDFY3):c.2288G>A (p.Arg763Gln) | Inborn genetic diseases [RCV002905398] | uncertain significance | 4 | 84809944 | 84809944 | Human | 1 | name |
| 156002911 | CV2347731 | single nucleotide variant | NM_014991.6(WDFY3):c.1400G>A (p.Ser467Asn) | Inborn genetic diseases [RCV002997137] | uncertain significance | 4 | 84821275 | 84821275 | Human | 1 | name |
| 156158557 | CV2363941 | single nucleotide variant | NM_014991.6(WDFY3):c.1898C>T (p.Ser633Leu) | Inborn genetic diseases [RCV002698103] | uncertain significance | 4 | 84810334 | 84810334 | Human | 1 | name |
| 156042524 | CV2387842 | single nucleotide variant | NM_014991.6(WDFY3):c.1777A>C (p.Ile593Leu) | Inborn genetic diseases [RCV002758850] | likely benign | 4 | 84817502 | 84817502 | Human | 1 | name |
| 156439937 | CV2401619 | single nucleotide variant | NM_014991.6(WDFY3):c.1471A>G (p.Arg491Gly) | not provided [RCV003109907] | uncertain significance | 4 | 84821204 | 84821204 | Human | | name |
| 156440031 | CV2401715 | single nucleotide variant | NM_014991.6(WDFY3):c.2322A>C (p.Lys774Asn) | not provided [RCV003110003] | uncertain significance | 4 | 84809910 | 84809910 | Human | | name |
| 243051620 | CV2403987 | single nucleotide variant | NM_014991.6(WDFY3):c.1574A>G (p.Gln525Arg) | not provided [RCV003129041] | uncertain significance | 4 | 84821101 | 84821101 | Human | | name |
| 243059303 | CV2405929 | deletion | NM_014991.6(WDFY3):c.8693del (p.Leu2898fs) | Microcephaly 18, primary, autosomal dominant [RCV003134773] | likely pathogenic | 4 | 84696178 | 84696178 | Human | 1 | name |
| 243062043 | CV2414248 | single nucleotide variant | NM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe) | Microcephaly 18, primary, autosomal dominant [RCV003139317] | uncertain significance | 4 | 84817487 | 84817487 | Human | 1 | name |
| 243049919 | CV2419487 | single nucleotide variant | NM_014991.6(WDFY3):c.2143T>G (p.Leu715Val) | not provided [RCV003156419] | uncertain significance | 4 | 84810089 | 84810089 | Human | | name |
| 329375787 | CV2441128 | single nucleotide variant | NM_014991.6(WDFY3):c.2395T>G (p.Ser799Ala) | Inborn genetic diseases [RCV003185858] | uncertain significance | 4 | 84808368 | 84808368 | Human | 1 | name |
| 329387898 | CV2471086 | single nucleotide variant | NM_014991.6(WDFY3):c.1860A>C (p.Glu620Asp) | Inborn genetic diseases [RCV003215493] | uncertain significance | 4 | 84817419 | 84817419 | Human | 1 | name |
| 329394956 | CV2472987 | single nucleotide variant | NM_014991.6(WDFY3):c.2015G>T (p.Gly672Val) | not provided [RCV003218970] | uncertain significance | 4 | 84810217 | 84810217 | Human | | name |
| 329848557 | CV2523301 | single nucleotide variant | NM_014991.6(WDFY3):c.2704G>A (p.Ala902Thr) | not provided [RCV003225315] | uncertain significance | 4 | 84801768 | 84801768 | Human | | name |
| 329847459 | CV2524295 | single nucleotide variant | NM_014991.6(WDFY3):c.2335T>C (p.Ser779Pro) | not provided [RCV003227187] | uncertain significance | 4 | 84809897 | 84809897 | Human | | name |
| 329953578 | CV2668490 | single nucleotide variant | NM_014991.6(WDFY3):c.1541A>G (p.His514Arg) | not provided [RCV003230143] | uncertain significance | 4 | 84821134 | 84821134 | Human | | name |
| 329953931 | CV2669273 | single nucleotide variant | NM_014991.6(WDFY3):c.1690G>A (p.Ala564Thr) | not provided [RCV003231779] | uncertain significance | 4 | 84820088 | 84820088 | Human | | name |
| 329954907 | CV2670839 | single nucleotide variant | NM_014991.6(WDFY3):c.1703G>A (p.Arg568Gln) | not provided [RCV003236107] | uncertain significance | 4 | 84817576 | 84817576 | Human | | name |
| 401732949 | CV2685380 | single nucleotide variant | NM_014991.6(WDFY3):c.2287C>T (p.Arg763Trp) | Inborn genetic diseases [RCV003249049] | likely benign | 4 | 84809945 | 84809945 | Human | 1 | name |
| 401722704 | CV2703469 | single nucleotide variant | NM_014991.6(WDFY3):c.2747A>G (p.Asp916Gly) | Inborn genetic diseases [RCV003268104] | uncertain significance | 4 | 84801725 | 84801725 | Human | 1 | name |
| 401732592 | CV2708899 | single nucleotide variant | NM_014991.6(WDFY3):c.2410C>G (p.Pro804Ala) | Inborn genetic diseases [RCV003272078] | uncertain significance | 4 | 84808353 | 84808353 | Human | 1 | name |
| 401726699 | CV2736161 | single nucleotide variant | NM_014991.6(WDFY3):c.1469C>T (p.Thr490Ile) | not provided [RCV003312608] | likely benign | 4 | 84821206 | 84821206 | Human | | name |
| 401796791 | CV2739766 | single nucleotide variant | NM_014991.6(WDFY3):c.1919G>C (p.Arg640Pro) | WDFY3-related disorder [RCV004529624]|not provided [RCV003319727] | uncertain significance | 4 | 84810313 | 84810313 | Human | 1 | name , trait |
| 401798990 | CV2741565 | single nucleotide variant | NM_014991.6(WDFY3):c.2966G>T (p.Gly989Val) | not provided [RCV003322973] | uncertain significance | 4 | 84796722 | 84796722 | Human | | name |
| 401799147 | CV2741724 | single nucleotide variant | NM_014991.6(WDFY3):c.2764C>T (p.Pro922Ser) | not provided [RCV003323132] | uncertain significance | 4 | 84801708 | 84801708 | Human | | name |
| 401892087 | CV2777218 | single nucleotide variant | NM_014991.6(WDFY3):c.1235T>C (p.Met412Thr) | Inborn genetic diseases [RCV003369769] | uncertain significance | 4 | 84821440 | 84821440 | Human | 1 | name |
| 401868092 | CV2787738 | single nucleotide variant | NM_014991.6(WDFY3):c.1468A>G (p.Thr490Ala) | Inborn genetic diseases [RCV003360397] | uncertain significance | 4 | 84821207 | 84821207 | Human | 1 | name |
| 401937818 | CV2797120 | single nucleotide variant | NM_014991.6(WDFY3):c.2392C>G (p.Pro798Ala) | WDFY3-related disorder [RCV004528695] | uncertain significance | 4 | 84808371 | 84808371 | Human | | name , trait |
| 401923350 | CV2822622 | single nucleotide variant | NM_014991.6(WDFY3):c.10467C>G (p.Arg3489=) | not provided [RCV003435054] | likely benign | 4 | 84672982 | 84672982 | Human | | name |
| 401928267 | CV2822642 | single nucleotide variant | NM_014991.6(WDFY3):c.2455C>T (p.Pro819Ser) | not provided [RCV003439380] | benign | 4 | 84803442 | 84803442 | Human | | name |
| 401923406 | CV2822643 | single nucleotide variant | NM_014991.6(WDFY3):c.2311T>A (p.Tyr771Asn) | not provided [RCV003435068] | uncertain significance | 4 | 84809921 | 84809921 | Human | | name |
| 401928269 | CV2822645 | single nucleotide variant | NM_014991.6(WDFY3):c.2309T>A (p.Ile770Asn) | not provided [RCV003439381] | uncertain significance | 4 | 84809923 | 84809923 | Human | | name |
| 401928271 | CV2822646 | single nucleotide variant | NM_014991.6(WDFY3):c.1435A>G (p.Ser479Gly) | not provided [RCV003439382] | likely benign | 4 | 84821240 | 84821240 | Human | | name |
| 401923410 | CV2822648 | single nucleotide variant | NM_014991.6(WDFY3):c.1247C>G (p.Ala416Gly) | Inborn genetic diseases [RCV005301297]|not provided [RCV003435071] | uncertain significance | 4 | 84821428 | 84821428 | Human | 1 | name |
| 401944762 | CV2840512 | single nucleotide variant | NM_014991.6(WDFY3):c.10467C>T (p.Arg3489=) | not provided [RCV003457420] | likely benign | 4 | 84672982 | 84672982 | Human | | name |
| 404999530 | CV2851521 | single nucleotide variant | NM_014991.6(WDFY3):c.2282C>T (p.Thr761Met) | Microcephaly 18, primary, autosomal dominant [RCV003493220]|WDFY3-related disorder [RCV004536827] | likely benign | 4 | 84809950 | 84809950 | Human | 1 | name , trait |
| 402499081 | CV2871958 | single nucleotide variant | NM_014991.6(WDFY3):c.2609A>T (p.His870Leu) | Inborn genetic diseases [RCV004963689]|not provided [RCV003545717] | uncertain significance | 4 | 84801863 | 84801863 | Human | 1 | name |
| 405266370 | CV3186624 | single nucleotide variant | NM_014991.6(WDFY3):c.2860G>T (p.Ala954Ser) | not provided [RCV003886705] | uncertain significance | 4 | 84798071 | 84798071 | Human | | name |
| 405268557 | CV3198997 | single nucleotide variant | NM_014991.6(WDFY3):c.1204A>G (p.Ile402Val) | WDFY3-related disorder [RCV004537057] | likely benign | 4 | 84821471 | 84821471 | Human | | name , trait |
| 405802067 | CV3349006 | single nucleotide variant | NM_014991.6(WDFY3):c.1243A>G (p.Asn415Asp) | Inborn genetic diseases [RCV004478081] | uncertain significance | 4 | 84821432 | 84821432 | Human | 1 | name |
| 405802061 | CV3349009 | single nucleotide variant | NM_014991.6(WDFY3):c.1309C>G (p.Leu437Val) | Inborn genetic diseases [RCV004478084] | uncertain significance | 4 | 84821366 | 84821366 | Human | 1 | name |
| 405802059 | CV3349010 | single nucleotide variant | NM_014991.6(WDFY3):c.2080G>A (p.Ala694Thr) | Inborn genetic diseases [RCV004478085] | uncertain significance | 4 | 84810152 | 84810152 | Human | 1 | name |
| 405802057 | CV3349011 | single nucleotide variant | NM_014991.6(WDFY3):c.2196C>A (p.Ser732Arg) | Inborn genetic diseases [RCV004478086] | uncertain significance | 4 | 84810036 | 84810036 | Human | 1 | name |
| 405853923 | CV3395335 | deletion | NM_014991.6(WDFY3):c.9662del (p.Ser3221fs) | Microcephaly 18, primary, autosomal dominant [RCV004555472] | uncertain significance | 4 | 84684007 | 84684007 | Human | 1 | name |
| 407465220 | CV3489602 | single nucleotide variant | NM_014991.6(WDFY3):c.2498A>G (p.His833Arg) | Inborn genetic diseases [RCV004688711]|Microcephaly 18, primary, autosomal dominant [RCV005392853] | likely benign | 4 | 84803399 | 84803399 | Human | 2 | name |
| 407451162 | CV3489605 | single nucleotide variant | NM_014991.6(WDFY3):c.1996A>T (p.Ser666Cys) | Inborn genetic diseases [RCV004683569] | uncertain significance | 4 | 84810236 | 84810236 | Human | 1 | name |
| 407451165 | CV3489606 | single nucleotide variant | NM_014991.6(WDFY3):c.2000G>C (p.Cys667Ser) | Inborn genetic diseases [RCV004683570] | likely benign | 4 | 84810232 | 84810232 | Human | 1 | name |
| 407451167 | CV3489607 | single nucleotide variant | NM_014991.6(WDFY3):c.2001T>G (p.Cys667Trp) | Inborn genetic diseases [RCV004683571] | uncertain significance | 4 | 84810231 | 84810231 | Human | 1 | name |
| 407451175 | CV3489610 | single nucleotide variant | NM_014991.6(WDFY3):c.2946C>G (p.Ile982Met) | Inborn genetic diseases [RCV004683574] | uncertain significance | 4 | 84796742 | 84796742 | Human | 1 | name |
| 407451186 | CV3489614 | single nucleotide variant | NM_014991.6(WDFY3):c.1799C>A (p.Pro600Gln) | Inborn genetic diseases [RCV004683578] | uncertain significance | 4 | 84817480 | 84817480 | Human | 1 | name |
| 407451188 | CV3489615 | single nucleotide variant | NM_014991.6(WDFY3):c.2629G>C (p.Ala877Pro) | Inborn genetic diseases [RCV004683579] | uncertain significance | 4 | 84801843 | 84801843 | Human | 1 | name |
| 407572681 | CV3497163 | duplication | NM_014991.6(WDFY3):c.5525dup (p.Leu1842fs) | not provided [RCV004698983] | uncertain significance | 4 | 84755299 | 84755300 | Human | | name |
| 408373110 | CV3502130 | single nucleotide variant | NM_014991.6(WDFY3):c.1951T>G (p.Phe651Val) | not provided [RCV004725717] | uncertain significance | 4 | 84810281 | 84810281 | Human | | name |
| 408373333 | CV3502232 | single nucleotide variant | NM_014991.6(WDFY3):c.2565G>A (p.Met855Ile) | not provided [RCV004725819] | uncertain significance | 4 | 84803332 | 84803332 | Human | | name |
| 408385810 | CV3520362 | single nucleotide variant | NM_014991.6(WDFY3):c.2866G>A (p.Asp956Asn) | not provided [RCV004760183] | uncertain significance | 4 | 84798065 | 84798065 | Human | | name |
| 408385948 | CV3520435 | single nucleotide variant | NM_014991.6(WDFY3):c.1813G>A (p.Asp605Asn) | not provided [RCV004760256] | uncertain significance | 4 | 84817466 | 84817466 | Human | | name |
| 408387771 | CV3520476 | single nucleotide variant | NM_014991.6(WDFY3):c.2110C>G (p.His704Asp) | not provided [RCV004761308] | uncertain significance | 4 | 84810122 | 84810122 | Human | | name |
| 408388420 | CV3520788 | single nucleotide variant | NM_014991.6(WDFY3):c.2222C>T (p.Thr741Ile) | not provided [RCV004761621] | uncertain significance | 4 | 84810010 | 84810010 | Human | | name |
| 408390885 | CV3521063 | single nucleotide variant | NM_014991.6(WDFY3):c.2237G>A (p.Arg746Lys) | not provided [RCV004762885] | uncertain significance | 4 | 84809995 | 84809995 | Human | | name |
| 408391007 | CV3521150 | single nucleotide variant | NM_014991.6(WDFY3):c.1931T>A (p.Val644Asp) | not provided [RCV004762972] | uncertain significance | 4 | 84810301 | 84810301 | Human | | name |
| 408391621 | CV3521390 | single nucleotide variant | NM_014991.6(WDFY3):c.2013T>G (p.Asn671Lys) | not provided [RCV004763212] | uncertain significance | 4 | 84810219 | 84810219 | Human | | name |
| 408391444 | CV3523195 | single nucleotide variant | NM_014991.6(WDFY3):c.2098C>G (p.Pro700Ala) | not provided [RCV004770567] | uncertain significance | 4 | 84810134 | 84810134 | Human | | name |
| 408391483 | CV3523216 | single nucleotide variant | NM_014991.6(WDFY3):c.1379G>A (p.Cys460Tyr) | not provided [RCV004770588] | uncertain significance | 4 | 84821296 | 84821296 | Human | | name |
| 408381776 | CV3523974 | single nucleotide variant | NM_014991.6(WDFY3):c.2230T>C (p.Phe744Leu) | not provided [RCV004766372] | uncertain significance | 4 | 84810002 | 84810002 | Human | | name |
| 408390941 | CV3527810 | single nucleotide variant | NM_014991.6(WDFY3):c.2813T>C (p.Met938Thr) | not provided [RCV004775079] | uncertain significance | 4 | 84801659 | 84801659 | Human | | name |
| 408386120 | CV3528804 | single nucleotide variant | NM_014991.6(WDFY3):c.2707C>T (p.Arg903Ter) | not provided [RCV004772637] | pathogenic | 4 | 84801765 | 84801765 | Human | | name |
| 596930884 | CV3529751 | single nucleotide variant | NM_014991.6(WDFY3):c.1567C>T (p.Pro523Ser) | not provided [RCV004780801] | uncertain significance | 4 | 84821108 | 84821108 | Human | | name |
| 596926975 | CV3530903 | single nucleotide variant | NM_014991.6(WDFY3):c.2903C>T (p.Pro968Leu) | not provided [RCV004778488] | uncertain significance | 4 | 84798028 | 84798028 | Human | | name |
| 596931243 | CV3531576 | single nucleotide variant | NM_014991.6(WDFY3):c.2343C>A (p.Asp781Glu) | not provided [RCV004781138] | uncertain significance | 4 | 84809889 | 84809889 | Human | | name |
| 596927784 | CV3532693 | single nucleotide variant | NM_014991.6(WDFY3):c.2327C>T (p.Ala776Val) | not provided [RCV004778791] | uncertain significance | 4 | 84809905 | 84809905 | Human | | name |
| 596921235 | CV3534853 | single nucleotide variant | NM_014991.6(WDFY3):c.1570A>T (p.Thr524Ser) | not provided [RCV004784411] | uncertain significance | 4 | 84821105 | 84821105 | Human | | name |
| 596925897 | CV3535996 | single nucleotide variant | NM_014991.6(WDFY3):c.2647C>T (p.Gln883Ter) | Neurodevelopmental disorder [RCV004788426] | likely pathogenic | 4 | 84801825 | 84801825 | Human | 1 | name |
| 596922282 | CV3537080 | single nucleotide variant | NM_014991.6(WDFY3):c.1544A>G (p.Lys515Arg) | not provided [RCV004786075] | uncertain significance | 4 | 84821131 | 84821131 | Human | | name |
| 596922628 | CV3537317 | single nucleotide variant | NM_014991.6(WDFY3):c.2476A>C (p.Asn826His) | not provided [RCV004787287] | uncertain significance | 4 | 84803421 | 84803421 | Human | | name |
| 596923106 | CV3537558 | single nucleotide variant | NM_014991.6(WDFY3):c.2626C>G (p.Leu876Val) | not provided [RCV004787528] | uncertain significance | 4 | 84801846 | 84801846 | Human | | name |
| 597630295 | CV3623791 | single nucleotide variant | NM_014991.6(WDFY3):c.2833C>T (p.Arg945Cys) | Inborn genetic diseases [RCV004967281] | uncertain significance | 4 | 84798098 | 84798098 | Human | 1 | name |
| 597630301 | CV3623792 | single nucleotide variant | NM_014991.6(WDFY3):c.2461G>T (p.Val821Phe) | Inborn genetic diseases [RCV004967282] | uncertain significance | 4 | 84803436 | 84803436 | Human | 1 | name |
| 597630321 | CV3623797 | single nucleotide variant | NM_014991.6(WDFY3):c.1696A>G (p.Ile566Val) | Inborn genetic diseases [RCV004967287] | uncertain significance | 4 | 84817583 | 84817583 | Human | 1 | name |
| 597630326 | CV3623798 | single nucleotide variant | NM_014991.6(WDFY3):c.1217C>G (p.Ala406Gly) | Inborn genetic diseases [RCV004967288] | uncertain significance | 4 | 84821458 | 84821458 | Human | 1 | name |
| 597630392 | CV3623814 | single nucleotide variant | NM_014991.6(WDFY3):c.2506A>G (p.Thr836Ala) | Inborn genetic diseases [RCV004967304] | uncertain significance | 4 | 84803391 | 84803391 | Human | 1 | name |
| 597846363 | CV3880624 | single nucleotide variant | NM_014991.6(WDFY3):c.1394G>A (p.Ser465Asn) | not provided [RCV005227512] | uncertain significance | 4 | 84821281 | 84821281 | Human | | name |
| 598125221 | CV3883875 | single nucleotide variant | NM_014991.6(WDFY3):c.1928C>T (p.Thr643Ile) | not provided [RCV005236230] | uncertain significance | 4 | 84810304 | 84810304 | Human | | name |
| 598122541 | CV3884472 | single nucleotide variant | NM_014991.6(WDFY3):c.2530G>A (p.Ala844Thr) | not specified [RCV005237164] | uncertain significance | 4 | 84803367 | 84803367 | Human | | name |
| 598122653 | CV3884585 | single nucleotide variant | NM_014991.6(WDFY3):c.1961T>C (p.Ile654Thr) | not specified [RCV005237277] | uncertain significance | 4 | 84810271 | 84810271 | Human | | name |
| 598126448 | CV3886277 | single nucleotide variant | NM_014991.6(WDFY3):c.2614T>G (p.Leu872Val) | not provided [RCV005242080] | uncertain significance | 4 | 84801858 | 84801858 | Human | | name |
| 598123434 | CV3890338 | single nucleotide variant | NM_014991.6(WDFY3):c.1549G>T (p.Ala517Ser) | not provided [RCV005250857] | uncertain significance | 4 | 84821126 | 84821126 | Human | | name |
| 598257051 | CV3936882 | single nucleotide variant | NM_014991.6(WDFY3):c.2578G>T (p.Ala860Ser) | Inborn genetic diseases [RCV005299738] | uncertain significance | 4 | 84803319 | 84803319 | Human | 1 | name |
| 598219093 | CV3936884 | single nucleotide variant | NM_014991.6(WDFY3):c.1918C>T (p.Arg640Cys) | Inborn genetic diseases [RCV005293266] | uncertain significance | 4 | 84810314 | 84810314 | Human | 1 | name |
| 598219101 | CV3936885 | single nucleotide variant | NM_014991.6(WDFY3):c.1043G>A (p.Ser348Asn) | Inborn genetic diseases [RCV005293267] | likely benign | 4 | 84826895 | 84826895 | Human | 1 | name |
| 598219124 | CV3936890 | single nucleotide variant | NM_014991.6(WDFY3):c.1975G>A (p.Val659Ile) | Inborn genetic diseases [RCV005293271] | uncertain significance | 4 | 84810257 | 84810257 | Human | 1 | name |
| 598257060 | CV3936891 | single nucleotide variant | NM_014991.6(WDFY3):c.2308A>G (p.Ile770Val) | Inborn genetic diseases [RCV005299740] | uncertain significance | 4 | 84809924 | 84809924 | Human | 1 | name |
| 598257063 | CV3936892 | single nucleotide variant | NM_014991.6(WDFY3):c.2602C>G (p.Pro868Ala) | Inborn genetic diseases [RCV005299741] | uncertain significance | 4 | 84803295 | 84803295 | Human | 1 | name |
| 598219131 | CV3936895 | single nucleotide variant | NM_014991.6(WDFY3):c.1046A>C (p.Glu349Ala) | Inborn genetic diseases [RCV005293273] | uncertain significance | 4 | 84826892 | 84826892 | Human | 1 | name |
| 598257081 | CV3936898 | single nucleotide variant | NM_014991.6(WDFY3):c.1576G>A (p.Ala526Thr) | Inborn genetic diseases [RCV005299745] | uncertain significance | 4 | 84821099 | 84821099 | Human | 1 | name |
| 598189922 | CV4008764 | single nucleotide variant | NM_014991.6(WDFY3):c.2990A>G (p.His997Arg) | Microcephaly 18, primary, autosomal dominant [RCV005396263] | uncertain significance | 4 | 84796698 | 84796698 | Human | 1 | name |
| 616935432 | CV4016046 | single nucleotide variant | NM_014991.6(WDFY3):c.1784A>G (p.Gln595Arg) | not provided [RCV005414910] | uncertain significance | 4 | 84817495 | 84817495 | Human | | name |
| 617153690 | CV4016765 | single nucleotide variant | NM_014991.6(WDFY3):c.2408C>T (p.Thr803Ile) | not provided [RCV005415862] | uncertain significance | 4 | 84808355 | 84808355 | Human | | name |
| 15123678 | CV749090 | single nucleotide variant | NM_014991.6(WDFY3):c.1856C>T (p.Thr619Met) | Inborn genetic diseases [RCV002540944]|Microcephaly 18, primary, autosomal dominant [RCV005392547]|WDFY3-related disorder [RCV004543448]|not provided [RCV000918862] | likely benign|uncertain significance | 4 | 84817423 | 84817423 | Human | 2 | name , trait |
| 38597025 | CV801806 | single nucleotide variant | NM_014991.6(WDFY3):c.1483A>G (p.Ile495Val) | Microcephaly [RCV001252818] | uncertain significance | 4 | 84821192 | 84821192 | Human | 2 | name |
| 38596919 | CV963569 | single nucleotide variant | NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro) | Microcephaly 18, primary, autosomal dominant [RCV001252630] | likely pathogenic | 4 | 84820108 | 84820108 | Human | 1 | name |
| 39456428 | CV965484 | single nucleotide variant | NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys) | Microcephaly 18, primary, autosomal dominant [RCV003142228] | uncertain significance | 4 | 84808416 | 84808416 | Human | 1 | name |
| 39456768 | CV965963 | single nucleotide variant | NM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr) | Microcephaly 18, primary, autosomal dominant [RCV001255807] | likely benign | 4 | 84821522 | 84821522 | Human | 1 | name |
| 40887567 | CV973432 | single nucleotide variant | NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter) | Inborn genetic diseases [RCV001267185] | pathogenic | 4 | 84810074 | 84810074 | Human | 1 | name |
| 40886722 | CV973433 | single nucleotide variant | NM_014991.6(WDFY3):c.1900G>C (p.Val634Leu) | Inborn genetic diseases [RCV001265949] | uncertain significance | 4 | 84810332 | 84810332 | Human | 1 | name |
| 42723468 | CV984311 | single nucleotide variant | NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) | Autism spectrum disorder [RCV001291370] | likely pathogenic | 4 | 84797999 | 84797999 | Human | 2 | name |
| 126745116 | CV1016442 | single nucleotide variant | NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter) | Microcephaly 18, primary, autosomal dominant [RCV001330590] | likely pathogenic | 4 | 84705442 | 84705442 | Human | 1 | name |
| 126745112 | CV1016443 | single nucleotide variant | NM_014991.6(WDFY3):c.7910G>A (p.Arg2637Gln) | Microcephaly 18, primary, autosomal dominant [RCV001330589] | uncertain significance | 4 | 84715349 | 84715349 | Human | 1 | name |
| 126737804 | CV1016444 | single nucleotide variant | NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val) | Microcephaly 18, primary, autosomal dominant [RCV001328826] | uncertain significance | 4 | 84737322 | 84737322 | Human | 1 | name |
| 126737798 | CV1016445 | single nucleotide variant | NM_014991.6(WDFY3):c.6398C>T (p.Pro2133Leu) | Microcephaly 18, primary, autosomal dominant [RCV001328825] | uncertain significance | 4 | 84740253 | 84740253 | Human | 1 | name |
| 126731696 | CV1020019 | single nucleotide variant | NM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn) | Microcephaly 18, primary, autosomal dominant [RCV001333798] | uncertain significance | 4 | 84690522 | 84690522 | Human | 1 | name |
| 126910935 | CV1037514 | single nucleotide variant | NM_014991.6(WDFY3):c.9155G>C (p.Trp3052Ser) | not provided [RCV001354811] | uncertain significance | 4 | 84691680 | 84691680 | Human | | name |
| 127244068 | CV1053747 | single nucleotide variant | NM_014991.6(WDFY3):c.8474T>G (p.Phe2825Cys) | Microcephaly 18, primary, autosomal dominant [RCV001375984] | uncertain significance | 4 | 84702475 | 84702475 | Human | 1 | name |
| 150338423 | CV1174117 | single nucleotide variant | NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp) | Microcephaly 18, primary, autosomal dominant [RCV001542346]|not provided [RCV003442890] | uncertain significance | 4 | 84756946 | 84756946 | Human | 1 | name |
| 150419048 | CV1197247 | single nucleotide variant | NM_014991.6(WDFY3):c.8941C>T (p.Arg2981Ter) | not provided [RCV001577003] | pathogenic|likely pathogenic | 4 | 84692993 | 84692993 | Human | | name |
| 150453061 | CV1203725 | single nucleotide variant | NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly) | Microcephaly 18, primary, autosomal dominant [RCV001591681] | uncertain significance | 4 | 84740334 | 84740334 | Human | 1 | name |
| 150453110 | CV1203735 | single nucleotide variant | NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser) | Microcephaly 18, primary, autosomal dominant [RCV001591691] | uncertain significance | 4 | 84691701 | 84691701 | Human | 1 | name |
| 150433661 | CV1243757 | single nucleotide variant | NM_014991.6(WDFY3):c.8094G>A (p.Trp2698Ter) | not provided [RCV001664963] | pathogenic | 4 | 84709296 | 84709296 | Human | | name |
| 150507205 | CV1244507 | single nucleotide variant | NM_014991.6(WDFY3):c.4478C>G (p.Pro1493Arg) | not provided [RCV001658756] | uncertain significance | 4 | 84778543 | 84778543 | Human | | name |
| 150529585 | CV1288823 | single nucleotide variant | NM_014991.6(WDFY3):c.7471C>T (p.Arg2491Ter) | not provided [RCV001727291] | likely pathogenic|conflicting interpretations of pathogenicity | 4 | 84721543 | 84721543 | Human | | name |
| 150529667 | CV1289249 | single nucleotide variant | NM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn) | Microcephaly 18, primary, autosomal dominant [RCV001728081] | uncertain significance | 4 | 84688180 | 84688180 | Human | 1 | name |
| 150546146 | CV1296143 | single nucleotide variant | NM_014991.6(WDFY3):c.8929C>T (p.Arg2977Ter) | not provided [RCV001763433] | uncertain significance | 4 | 84693005 | 84693005 | Human | | name |
| 150546460 | CV1296231 | single nucleotide variant | NM_014991.6(WDFY3):c.6317C>T (p.Ala2106Val) | not provided [RCV001763521] | uncertain significance | 4 | 84740334 | 84740334 | Human | | name |
| 150527874 | CV1300875 | duplication | NM_014991.6(WDFY3):c.7200dup (p.Glu2401Ter) | not provided [RCV001754735] | uncertain significance | 4 | 84733402 | 84733403 | Human | | name |
| 150552249 | CV1301188 | single nucleotide variant | NM_014991.6(WDFY3):c.8915C>T (p.Pro2972Leu) | not provided [RCV001767598] | uncertain significance | 4 | 84693019 | 84693019 | Human | | name |
| 150553581 | CV1303590 | single nucleotide variant | NM_014991.6(WDFY3):c.8104G>A (p.Glu2702Lys) | not provided [RCV001769280] | uncertain significance | 4 | 84709022 | 84709022 | Human | | name |
| 150553591 | CV1303601 | single nucleotide variant | NM_014991.6(WDFY3):c.4192C>G (p.Pro1398Ala) | not provided [RCV001769291] | uncertain significance | 4 | 84780281 | 84780281 | Human | | name |
| 150554734 | CV1304464 | single nucleotide variant | NM_014991.6(WDFY3):c.7222T>A (p.Ser2408Thr) | not provided [RCV001771434] | uncertain significance | 4 | 84726911 | 84726911 | Human | | name |
| 150555677 | CV1304832 | single nucleotide variant | NM_014991.6(WDFY3):c.3760G>A (p.Ala1254Thr) | not provided [RCV001773080] | uncertain significance | 4 | 84787623 | 84787623 | Human | | name |
| 150555772 | CV1304937 | single nucleotide variant | NM_014991.6(WDFY3):c.6626A>C (p.His2209Pro) | not provided [RCV001773185] | uncertain significance | 4 | 84737315 | 84737315 | Human | | name |
| 150532893 | CV1310915 | single nucleotide variant | NM_014991.6(WDFY3):c.7900G>A (p.Gly2634Arg) | not provided [RCV001776649] | uncertain significance | 4 | 84715359 | 84715359 | Human | | name |
| 150536126 | CV1312292 | single nucleotide variant | NM_014991.6(WDFY3):c.7676A>G (p.Lys2559Arg) | Neurodevelopmental disorder [RCV001780054] | uncertain significance | 4 | 84718500 | 84718500 | Human | 1 | name |
| 150545581 | CV1315772 | single nucleotide variant | NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His) | Microcephaly 18, primary, autosomal dominant [RCV001784103] | uncertain significance | 4 | 84772856 | 84772856 | Human | 1 | name |
| 150547252 | CV1315854 | single nucleotide variant | NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala) | Microcephaly 18, primary, autosomal dominant [RCV001785204] | uncertain significance | 4 | 84740281 | 84740281 | Human | 1 | name |
| 150547333 | CV1315976 | single nucleotide variant | NM_014991.6(WDFY3):c.6610T>C (p.Trp2204Arg) | Neurodevelopmental delay [RCV001785252] | likely pathogenic | 4 | 84737331 | 84737331 | Human | 1 | name |
| 150547355 | CV1315986 | single nucleotide variant | NM_014991.6(WDFY3):c.7672G>A (p.Gly2558Ser) | Neurodevelopmental delay [RCV001785262] | likely pathogenic | 4 | 84718504 | 84718504 | Human | 1 | name |
| 150547407 | CV1316009 | single nucleotide variant | NM_014991.6(WDFY3):c.5242C>T (p.Arg1748Ter) | Microcephaly 18, primary, autosomal dominant [RCV003326158]|Neurodevelopmental delay [RCV001785285] | likely pathogenic|uncertain significance | 4 | 84757108 | 84757108 | Human | 2 | name |
| 151233074 | CV1317707 | single nucleotide variant | NM_014991.6(WDFY3):c.9832G>A (p.Ala3278Thr) | not provided [RCV001787473] | uncertain significance | 4 | 84679234 | 84679234 | Human | | name |
| 151234260 | CV1320209 | single nucleotide variant | NM_014991.6(WDFY3):c.3548G>T (p.Arg1183Leu) | not provided [RCV001799832] | uncertain significance | 4 | 84789847 | 84789847 | Human | | name |
| 151234580 | CV1320348 | single nucleotide variant | NM_014991.6(WDFY3):c.6557G>A (p.Ser2186Asn) | not provided [RCV001799972] | uncertain significance | 4 | 84739027 | 84739027 | Human | | name |
| 151234615 | CV1320370 | single nucleotide variant | NM_014991.6(WDFY3):c.8777A>T (p.Glu2926Val) | not provided [RCV001799994] | uncertain significance | 4 | 84696094 | 84696094 | Human | | name |
| 151350098 | CV1325522 | single nucleotide variant | NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter) | Microcephaly 18, primary, autosomal dominant [RCV001814808]|not provided [RCV005057646] | pathogenic|likely pathogenic | 4 | 84688133 | 84688133 | Human | 1 | name |
| 151663470 | CV1333974 | single nucleotide variant | NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr) | Microcephaly 18, primary, autosomal dominant [RCV001839148] | uncertain significance | 4 | 84775098 | 84775098 | Human | 1 | name |
| 151751195 | CV1335637 | single nucleotide variant | NM_014991.6(WDFY3):c.3442C>T (p.Arg1148Ter) | not provided [RCV001847479] | pathogenic | 4 | 84794564 | 84794564 | Human | | name |
| 151873237 | CV1513731 | single nucleotide variant | NM_014991.6(WDFY3):c.5270C>T (p.Pro1757Leu) | not provided [RCV001940084] | uncertain significance | 4 | 84757080 | 84757080 | Human | | name |
| 151730247 | CV1517765 | single nucleotide variant | NM_014991.6(WDFY3):c.8428T>A (p.Phe2810Ile) | not provided [RCV002052380] | uncertain significance | 4 | 84704352 | 84704352 | Human | | name |
| 152154547 | CV1667928 | single nucleotide variant | NM_014991.6(WDFY3):c.9820A>G (p.Ile3274Val) | not provided [RCV002221821] | uncertain significance | 4 | 84682377 | 84682377 | Human | | name |
| 152154694 | CV1667958 | single nucleotide variant | NM_014991.6(WDFY3):c.4136C>G (p.Ser1379Cys) | not provided [RCV002221852] | uncertain significance | 4 | 84783001 | 84783001 | Human | | name |
| 152156403 | CV1668530 | single nucleotide variant | NM_014991.6(WDFY3):c.8764C>T (p.Pro2922Ser) | not provided [RCV002222812] | uncertain significance | 4 | 84696107 | 84696107 | Human | | name |
| 152978439 | CV1671617 | single nucleotide variant | NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser) | Microcephaly 18, primary, autosomal dominant [RCV002227722] | uncertain significance | 4 | 84682443 | 84682443 | Human | 1 | name |
| 152980040 | CV1675840 | single nucleotide variant | NM_014991.6(WDFY3):c.9549C>G (p.Asp3183Glu) | not provided [RCV002244431] | uncertain significance | 4 | 84684120 | 84684120 | Human | | name |
| 152980071 | CV1678385 | single nucleotide variant | NM_014991.6(WDFY3):c.6086C>T (p.Ser2029Phe) | not specified [RCV002246890] | benign | 4 | 84741909 | 84741909 | Human | | name |
| 152999726 | CV1683293 | single nucleotide variant | NM_014991.6(WDFY3):c.4487C>T (p.Thr1496Ile) | Inborn genetic diseases [RCV004047390]|See cases [RCV002252477] | likely benign | 4 | 84778534 | 84778534 | Human | 1 | name |
| 152999728 | CV1683295 | single nucleotide variant | NM_014991.6(WDFY3):c.7771A>G (p.Ile2591Val) | Inborn genetic diseases [RCV004047391]|See cases [RCV002252479] | likely benign | 4 | 84717000 | 84717000 | Human | 1 | name |
| 153301543 | CV1685784 | single nucleotide variant | NM_014991.6(WDFY3):c.5060C>T (p.Ala1687Val) | not provided [RCV002260761] | uncertain significance | 4 | 84765938 | 84765938 | Human | | name |
| 153305116 | CV1687524 | single nucleotide variant | NM_014991.6(WDFY3):c.9304G>A (p.Val3102Met) | Inborn genetic diseases [RCV003365722]|Microcephaly 18, primary, autosomal dominant [RCV003138135]|not provided [RCV002263345] | likely benign|uncertain significance | 4 | 84690565 | 84690565 | Human | 2 | name |
| 153305117 | CV1687525 | single nucleotide variant | NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val) | Microcephaly 18, primary, autosomal dominant [RCV002496198]|WDFY3-related disorder [RCV004534015]|not provided [RCV002263346] | benign|likely benign | 4 | 84691741 | 84691741 | Human | 1 | name , trait |
| 153301073 | CV1688917 | single nucleotide variant | NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe) | Microcephaly 18, primary, autosomal dominant [RCV002266645] | uncertain significance | 4 | 84690609 | 84690609 | Human | 1 | name |
| 153301186 | CV1689033 | single nucleotide variant | NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val) | Microcephaly 18, primary, autosomal dominant [RCV002266761]|WDFY3-related disorder [RCV004534020] | uncertain significance | 4 | 84718492 | 84718492 | Human | 1 | name , trait |
| 153302202 | CV1689494 | single nucleotide variant | NM_014991.6(WDFY3):c.8503G>T (p.Ala2835Ser) | not provided [RCV002267445] | uncertain significance | 4 | 84702446 | 84702446 | Human | | name |
| 153303889 | CV1690534 | single nucleotide variant | NM_014991.6(WDFY3):c.4805A>G (p.Lys1602Arg) | not provided [RCV002269578] | uncertain significance | 4 | 84772879 | 84772879 | Human | | name |
| 153345775 | CV1691418 | single nucleotide variant | NM_014991.6(WDFY3):c.3473T>G (p.Leu1158Arg) | Microcephaly 18, primary, autosomal dominant [RCV002272901] | uncertain significance | 4 | 84794533 | 84794533 | Human | 1 | name |
| 153347138 | CV1691953 | single nucleotide variant | NM_014991.6(WDFY3):c.9992C>T (p.Ser3331Phe) | not provided [RCV002273438] | uncertain significance | 4 | 84679074 | 84679074 | Human | | name |
| 153347280 | CV1691999 | single nucleotide variant | NM_014991.6(WDFY3):c.7041C>G (p.Ile2347Met) | not provided [RCV002273484] | uncertain significance | 4 | 84733562 | 84733562 | Human | | name |
| 153347352 | CV1692023 | single nucleotide variant | NM_014991.6(WDFY3):c.6936T>A (p.Phe2312Leu) | not provided [RCV002273508] | uncertain significance | 4 | 84735100 | 84735100 | Human | | name |
| 153347409 | CV1692043 | single nucleotide variant | NM_014991.6(WDFY3):c.4544T>C (p.Leu1515Pro) | not provided [RCV002273528] | uncertain significance | 4 | 84775113 | 84775113 | Human | | name |
| 153347461 | CV1692060 | single nucleotide variant | NM_014991.6(WDFY3):c.4572T>G (p.Ile1524Met) | not provided [RCV002273545] | uncertain significance | 4 | 84775085 | 84775085 | Human | | name |
| 153348019 | CV1695068 | single nucleotide variant | NM_014991.6(WDFY3):c.4813G>A (p.Val1605Ile) | not provided [RCV002278999] | uncertain significance | 4 | 84772871 | 84772871 | Human | | name |
| 155265234 | CV1704693 | single nucleotide variant | NM_014991.6(WDFY3):c.6229G>A (p.Ala2077Thr) | not provided [RCV002284909] | uncertain significance | 4 | 84741766 | 84741766 | Human | | name |
| 155641872 | CV1706075 | single nucleotide variant | NM_014991.6(WDFY3):c.9439C>A (p.Arg3147Ser) | not provided [RCV002286937] | uncertain significance | 4 | 84688190 | 84688190 | Human | | name |
| 155644195 | CV1706985 | single nucleotide variant | NM_014991.6(WDFY3):c.9611G>T (p.Ser3204Ile) | not provided [RCV002290940] | uncertain significance | 4 | 84684058 | 84684058 | Human | | name |
| 155641640 | CV1707078 | single nucleotide variant | NM_014991.6(WDFY3):c.9610A>T (p.Ser3204Cys) | Inborn genetic diseases [RCV005301145]|not provided [RCV002288008] | uncertain significance | 4 | 84684059 | 84684059 | Human | 1 | name |
| 155642051 | CV1707225 | single nucleotide variant | NM_014991.6(WDFY3):c.4735A>G (p.Ser1579Gly) | not provided [RCV002288155] | uncertain significance | 4 | 84774839 | 84774839 | Human | | name |
| 155643677 | CV1708032 | single nucleotide variant | NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter) | Intellectual disability, autosomal dominant 1 [RCV002289493] | likely pathogenic | 4 | 84733447 | 84733447 | Human | 1 | name |
| 155645657 | CV1709011 | single nucleotide variant | NM_014991.6(WDFY3):c.3421A>G (p.Ile1141Val) | not provided [RCV002291887] | uncertain significance | 4 | 84794585 | 84794585 | Human | | name |
| 155645909 | CV1709265 | single nucleotide variant | NM_014991.6(WDFY3):c.8999T>A (p.Ile3000Asn) | not provided [RCV002292141] | uncertain significance | 4 | 84692935 | 84692935 | Human | | name |
| 155641983 | CV1710008 | single nucleotide variant | NM_014991.6(WDFY3):c.9590T>C (p.Ile3197Thr) | not provided [RCV002293108] | uncertain significance | 4 | 84684079 | 84684079 | Human | | name |
| 155645091 | CV1710571 | single nucleotide variant | NM_014991.6(WDFY3):c.9619A>T (p.Thr3207Ser) | not provided [RCV002293867] | uncertain significance | 4 | 84684050 | 84684050 | Human | | name |
| 155645182 | CV1710662 | single nucleotide variant | NM_014991.6(WDFY3):c.5543G>A (p.Arg1848His) | not provided [RCV002293958] | uncertain significance | 4 | 84755282 | 84755282 | Human | | name |
| 155712459 | CV1760234 | single nucleotide variant | NM_014991.6(WDFY3):c.3155T>C (p.Leu1052Pro) | not provided [RCV002300740] | uncertain significance | 4 | 84796533 | 84796533 | Human | | name |
| 155731277 | CV1780966 | single nucleotide variant | NM_014991.6(WDFY3):c.5864A>G (p.Asn1955Ser) | not provided [RCV002308754] | uncertain significance | 4 | 84751592 | 84751592 | Human | | name |
| 155734894 | CV1781193 | single nucleotide variant | NM_014991.6(WDFY3):c.5512G>A (p.Glu1838Lys) | not provided [RCV002308982] | uncertain significance | 4 | 84755313 | 84755313 | Human | | name |
| 155803587 | CV1858149 | single nucleotide variant | NM_014991.6(WDFY3):c.3761C>G (p.Ala1254Gly) | not provided [RCV002462458] | uncertain significance | 4 | 84787622 | 84787622 | Human | | name |
| 155795017 | CV1858701 | single nucleotide variant | NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly) | Microcephaly 18, primary, autosomal dominant [RCV002463579] | uncertain significance | 4 | 84690567 | 84690567 | Human | 1 | name |
| 155797305 | CV1859280 | single nucleotide variant | NM_014991.6(WDFY3):c.3160G>T (p.Gly1054Trp) | not provided [RCV002464908] | uncertain significance | 4 | 84796528 | 84796528 | Human | | name |
| 155797529 | CV1860389 | single nucleotide variant | NM_014991.6(WDFY3):c.6706G>A (p.Ala2236Thr) | not provided [RCV002467031] | uncertain significance | 4 | 84737235 | 84737235 | Human | | name |
| 155797747 | CV1860464 | single nucleotide variant | NM_014991.6(WDFY3):c.9691G>A (p.Val3231Ile) | not provided [RCV002467106] | uncertain significance | 4 | 84683978 | 84683978 | Human | | name |
| 155797848 | CV1860522 | single nucleotide variant | NM_014991.6(WDFY3):c.8017C>T (p.Arg2673Ter) | not provided [RCV002467164] | likely pathogenic | 4 | 84713184 | 84713184 | Human | | name |
| 155798115 | CV1860594 | single nucleotide variant | NM_014991.6(WDFY3):c.6151C>T (p.Arg2051Cys) | not provided [RCV002467236] | uncertain significance | 4 | 84741844 | 84741844 | Human | | name |
| 155801053 | CV1861182 | single nucleotide variant | NM_014991.6(WDFY3):c.8396A>G (p.Tyr2799Cys) | Microcephaly 18, primary, autosomal dominant [RCV002468898] | uncertain significance | 4 | 84704384 | 84704384 | Human | 1 | name |
| 155795433 | CV1861296 | single nucleotide variant | NM_014991.6(WDFY3):c.5605G>T (p.Val1869Leu) | not provided [RCV002469578] | uncertain significance | 4 | 84753831 | 84753831 | Human | | name |
| 155798875 | CV1862211 | single nucleotide variant | NM_014991.6(WDFY3):c.3579G>A (p.Trp1193Ter) | Neurodevelopmental disorder [RCV002471615] | pathogenic | 4 | 84789816 | 84789816 | Human | 1 | name |
| 155799712 | CV1862599 | single nucleotide variant | NM_014991.6(WDFY3):c.7189G>T (p.Val2397Leu) | Microcephaly 18, primary, autosomal dominant [RCV002472006] | uncertain significance | 4 | 84733414 | 84733414 | Human | 1 | name |
| 155800166 | CV1862829 | single nucleotide variant | NM_014991.6(WDFY3):c.7324A>C (p.Met2442Leu) | Inborn genetic diseases [RCV004965881]|Microcephaly 18, primary, autosomal dominant [RCV002472236] | uncertain significance | 4 | 84724543 | 84724543 | Human | 2 | name |
| 155800401 | CV1863550 | single nucleotide variant | NM_014991.6(WDFY3):c.7639G>T (p.Gly2547Cys) | not provided [RCV002473973] | uncertain significance | 4 | 84718537 | 84718537 | Human | | name |
| 155800617 | CV1863740 | single nucleotide variant | NM_014991.6(WDFY3):c.3583C>A (p.His1195Asn) | not provided [RCV002474163] | uncertain significance | 4 | 84789812 | 84789812 | Human | | name |
| 156165848 | CV1866880 | single nucleotide variant | NM_014991.6(WDFY3):c.6473A>G (p.Asp2158Gly) | not provided [RCV002508432] | uncertain significance | 4 | 84739111 | 84739111 | Human | | name |
| 156166842 | CV1866918 | single nucleotide variant | NM_014991.6(WDFY3):c.9560G>A (p.Cys3187Tyr) | not provided [RCV002508470] | uncertain significance | 4 | 84684109 | 84684109 | Human | | name |
| 156047508 | CV1867552 | single nucleotide variant | NM_014991.6(WDFY3):c.8209G>A (p.Asp2737Asn) | not provided [RCV002510024] | uncertain significance | 4 | 84708917 | 84708917 | Human | | name |
| 156056648 | CV1935175 | single nucleotide variant | NM_014991.6(WDFY3):c.6722A>C (p.Glu2241Ala) | not specified [RCV002510463] | uncertain significance | 4 | 84737219 | 84737219 | Human | | name |
| 156439130 | CV1944066 | single nucleotide variant | NM_014991.6(WDFY3):c.6565A>G (p.Ile2189Val) | not provided [RCV003109086] | uncertain significance | 4 | 84739019 | 84739019 | Human | | name |
| 156271954 | CV2168138 | single nucleotide variant | NM_014991.6(WDFY3):c.3877A>C (p.Ser1293Arg) | not provided [RCV003027022] | pathogenic | 4 | 84787506 | 84787506 | Human | | name |
| 156451144 | CV2192762 | single nucleotide variant | NM_014991.6(WDFY3):c.8062T>G (p.Leu2688Val) | not provided [RCV003123324] | uncertain significance | 4 | 84709328 | 84709328 | Human | | name |
| 155962108 | CV2200878 | single nucleotide variant | NM_014991.6(WDFY3):c.6328G>A (p.Val2110Ile) | Inborn genetic diseases [RCV002686715] | likely benign | 4 | 84740323 | 84740323 | Human | 1 | name |
| 156322363 | CV2205021 | single nucleotide variant | NM_014991.6(WDFY3):c.6469G>A (p.Val2157Met) | Inborn genetic diseases [RCV002672287] | uncertain significance | 4 | 84739115 | 84739115 | Human | 1 | name |
| 156236709 | CV2206693 | single nucleotide variant | NM_014991.6(WDFY3):c.3736T>G (p.Tyr1246Asp) | Inborn genetic diseases [RCV002701580] | likely benign | 4 | 84787647 | 84787647 | Human | 1 | name |
| 156401034 | CV2213750 | single nucleotide variant | NM_014991.6(WDFY3):c.5723G>A (p.Arg1908His) | Inborn genetic diseases [RCV002656783] | uncertain significance | 4 | 84753713 | 84753713 | Human | 1 | name |
| 155977526 | CV2214874 | single nucleotide variant | NM_014991.6(WDFY3):c.3802A>G (p.Thr1268Ala) | Inborn genetic diseases [RCV002688058] | uncertain significance | 4 | 84787581 | 84787581 | Human | 1 | name |
| 156043316 | CV2215842 | single nucleotide variant | NM_014991.6(WDFY3):c.8618A>C (p.Lys2873Thr) | Inborn genetic diseases [RCV002692411] | uncertain significance | 4 | 84696802 | 84696802 | Human | 1 | name |
| 156172376 | CV2247513 | single nucleotide variant | NM_014991.6(WDFY3):c.9361C>G (p.Gln3121Glu) | Inborn genetic diseases [RCV002788132] | uncertain significance | 4 | 84690508 | 84690508 | Human | 1 | name |
| 156073857 | CV2263909 | single nucleotide variant | NM_014991.6(WDFY3):c.7198A>G (p.Thr2400Ala) | Inborn genetic diseases [RCV002823603] | uncertain significance | 4 | 84733405 | 84733405 | Human | 1 | name |
| 156155129 | CV2266120 | single nucleotide variant | NM_014991.6(WDFY3):c.5924G>C (p.Cys1975Ser) | Inborn genetic diseases [RCV002827023] | likely benign | 4 | 84751532 | 84751532 | Human | 1 | name |
| 156340985 | CV2268204 | single nucleotide variant | NM_014991.6(WDFY3):c.7809G>C (p.Lys2603Asn) | Inborn genetic diseases [RCV002836300] | uncertain significance | 4 | 84716962 | 84716962 | Human | 1 | name |
| 155984425 | CV2270592 | single nucleotide variant | NM_014991.6(WDFY3):c.3745A>G (p.Ile1249Val) | Inborn genetic diseases [RCV002818865] | uncertain significance | 4 | 84787638 | 84787638 | Human | 1 | name |
| 156065337 | CV2272499 | single nucleotide variant | NM_014991.6(WDFY3):c.5029G>A (p.Glu1677Lys) | Inborn genetic diseases [RCV002823141] | uncertain significance | 4 | 84765969 | 84765969 | Human | 1 | name |
| 155990053 | CV2276415 | single nucleotide variant | NM_014991.6(WDFY3):c.9130C>G (p.Pro3044Ala) | Inborn genetic diseases [RCV002864425] | uncertain significance | 4 | 84691705 | 84691705 | Human | 1 | name |
| 156132949 | CV2284543 | single nucleotide variant | NM_014991.6(WDFY3):c.9998G>A (p.Arg3333His) | Inborn genetic diseases [RCV002849814] | likely benign | 4 | 84679068 | 84679068 | Human | 1 | name |
| 156004442 | CV2290165 | single nucleotide variant | NM_014991.6(WDFY3):c.3721G>C (p.Val1241Leu) | Inborn genetic diseases [RCV002883546] | uncertain significance | 4 | 84787662 | 84787662 | Human | 1 | name |
| 156183070 | CV2294778 | single nucleotide variant | NM_014991.6(WDFY3):c.7741A>G (p.Thr2581Ala) | Inborn genetic diseases [RCV002892090] | uncertain significance | 4 | 84718435 | 84718435 | Human | 1 | name |
| 156290941 | CV2306012 | single nucleotide variant | NM_014991.6(WDFY3):c.4222G>A (p.Val1408Ile) | Inborn genetic diseases [RCV002897175] | likely benign | 4 | 84780251 | 84780251 | Human | 1 | name |
| 155963258 | CV2308252 | single nucleotide variant | NM_014991.6(WDFY3):c.5861C>G (p.Thr1954Ser) | Inborn genetic diseases [RCV002906238] | uncertain significance | 4 | 84751595 | 84751595 | Human | 1 | name |
| 156348394 | CV2312778 | single nucleotide variant | NM_014991.6(WDFY3):c.5038C>T (p.His1680Tyr) | Inborn genetic diseases [RCV002939486] | uncertain significance | 4 | 84765960 | 84765960 | Human | 1 | name |
| 156350342 | CV2316190 | single nucleotide variant | NM_014991.6(WDFY3):c.9326C>T (p.Thr3109Ile) | Inborn genetic diseases [RCV002939775]|Microcephaly 18, primary, autosomal dominant [RCV003492813] | uncertain significance | 4 | 84690543 | 84690543 | Human | 2 | name |
| 156282646 | CV2334605 | single nucleotide variant | NM_014991.6(WDFY3):c.6737A>G (p.Lys2246Arg) | Inborn genetic diseases [RCV002961050] | uncertain significance | 4 | 84737204 | 84737204 | Human | 1 | name |
| 155908289 | CV2354606 | single nucleotide variant | NM_014991.6(WDFY3):c.4661G>A (p.Arg1554Gln) | Inborn genetic diseases [RCV002990843] | uncertain significance | 4 | 84774913 | 84774913 | Human | 1 | name |
| 155924509 | CV2358165 | single nucleotide variant | NM_014991.6(WDFY3):c.5519T>C (p.Val1840Ala) | Inborn genetic diseases [RCV002992424]|WDFY3-related disorder [RCV004540604] | likely benign | 4 | 84755306 | 84755306 | Human | 2 | name , trait |
| 156097200 | CV2375566 | single nucleotide variant | NM_014991.6(WDFY3):c.7514T>C (p.Leu2505Pro) | Inborn genetic diseases [RCV002738865] | uncertain significance | 4 | 84721500 | 84721500 | Human | 1 | name |
| 156133781 | CV2383019 | single nucleotide variant | NM_014991.6(WDFY3):c.8837A>G (p.Asn2946Ser) | Inborn genetic diseases [RCV002708636] | uncertain significance | 4 | 84696034 | 84696034 | Human | 1 | name |
| 156249464 | CV2394086 | single nucleotide variant | NM_014991.6(WDFY3):c.7545A>G (p.Ile2515Met) | Inborn genetic diseases [RCV002768772] | uncertain significance | 4 | 84721469 | 84721469 | Human | 1 | name |
| 156006254 | CV2394140 | single nucleotide variant | NM_014991.6(WDFY3):c.3198T>A (p.His1066Gln) | Inborn genetic diseases [RCV002734590] | uncertain significance | 4 | 84794949 | 84794949 | Human | 1 | name |
| 156084008 | CV2395103 | single nucleotide variant | NM_014991.6(WDFY3):c.3799C>T (p.Pro1267Ser) | Inborn genetic diseases [RCV002783901] | uncertain significance | 4 | 84787584 | 84787584 | Human | 1 | name |
| 156440003 | CV2401687 | single nucleotide variant | NM_014991.6(WDFY3):c.6995G>A (p.Arg2332His) | not provided [RCV003109975] | uncertain significance | 4 | 84733608 | 84733608 | Human | | name |
| 156448895 | CV2402315 | single nucleotide variant | NM_014991.6(WDFY3):c.6001C>G (p.Gln2001Glu) | not provided [RCV003120474] | uncertain significance | 4 | 84743772 | 84743772 | Human | | name |
| 156435191 | CV2403440 | single nucleotide variant | NM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys) | Autism spectrum disorder [RCV003127376] | likely benign | 4 | 84692950 | 84692950 | Human | 2 | name |
| 243051670 | CV2403901 | single nucleotide variant | NM_014991.6(WDFY3):c.3983C>G (p.Ala1328Gly) | not provided [RCV003128977] | uncertain significance | 4 | 84786058 | 84786058 | Human | | name |
| 243051356 | CV2403922 | single nucleotide variant | NM_014991.6(WDFY3):c.8212T>G (p.Ser2738Ala) | not provided [RCV003128898] | uncertain significance | 4 | 84708914 | 84708914 | Human | | name |
| 243051782 | CV2404098 | single nucleotide variant | NM_014991.6(WDFY3):c.7768A>G (p.Ile2590Val) | not provided [RCV003129124] | uncertain significance | 4 | 84717003 | 84717003 | Human | | name |
| 243052211 | CV2404334 | single nucleotide variant | NM_014991.6(WDFY3):c.4893A>G (p.Ile1631Met) | not provided [RCV003129360] | uncertain significance | 4 | 84766329 | 84766329 | Human | | name |
| 243053239 | CV2404526 | deletion | NM_014991.6(WDFY3):c.10540del (p.Gln3514fs) | not provided [RCV003129553] | uncertain significance | 4 | 84672909 | 84672909 | Human | | name |
| 243062039 | CV2414244 | single nucleotide variant | NM_014991.6(WDFY3):c.7095C>A (p.His2365Gln) | Microcephaly 18, primary, autosomal dominant [RCV003139313] | uncertain significance | 4 | 84733508 | 84733508 | Human | 1 | name |
| 243062041 | CV2414246 | single nucleotide variant | NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val) | Inborn genetic diseases [RCV004676181]|Microcephaly 18, primary, autosomal dominant [RCV003139315] | likely benign|uncertain significance | 4 | 84794975 | 84794975 | Human | 2 | name |
| 243062042 | CV2414247 | single nucleotide variant | NM_014991.6(WDFY3):c.8033T>G (p.Val2678Gly) | Microcephaly 18, primary, autosomal dominant [RCV003139316] | uncertain significance | 4 | 84713168 | 84713168 | Human | 1 | name |
| 243062044 | CV2414249 | single nucleotide variant | NM_014991.6(WDFY3):c.4739G>A (p.Ser1580Asn) | Microcephaly 18, primary, autosomal dominant [RCV003139318] | uncertain significance | 4 | 84774835 | 84774835 | Human | 1 | name |
| 243051240 | CV2415732 | single nucleotide variant | NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu) | Microcephaly 18, primary, autosomal dominant [RCV003148339] | likely pathogenic | 4 | 84751631 | 84751631 | Human | 1 | name |
| 243050159 | CV2417343 | single nucleotide variant | NM_014991.6(WDFY3):c.6955C>G (p.Arg2319Gly) | not provided [RCV003152215] | uncertain significance | 4 | 84735081 | 84735081 | Human | | name |
| 243050139 | CV2419569 | single nucleotide variant | NM_014991.6(WDFY3):c.5642A>G (p.Asn1881Ser) | not provided [RCV003156501] | uncertain significance | 4 | 84753794 | 84753794 | Human | | name |
| 329350278 | CV2421625 | single nucleotide variant | NM_014991.6(WDFY3):c.6287A>G (p.Asn2096Ser) | not provided [RCV003159327] | uncertain significance | 4 | 84740364 | 84740364 | Human | | name |
| 329350680 | CV2421663 | single nucleotide variant | NM_014991.6(WDFY3):c.5731T>G (p.Ser1911Ala) | not provided [RCV003159366] | uncertain significance | 4 | 84753705 | 84753705 | Human | | name |
| 329350562 | CV2421724 | single nucleotide variant | NM_014991.6(WDFY3):c.4486A>C (p.Thr1496Pro) | not provided [RCV003159427] | uncertain significance | 4 | 84778535 | 84778535 | Human | | name |
| 329400593 | CV2438532 | single nucleotide variant | NM_014991.6(WDFY3):c.7325T>C (p.Met2442Thr) | Inborn genetic diseases [RCV003197590] | likely benign | 4 | 84724542 | 84724542 | Human | 1 | name |
| 329359092 | CV2450838 | single nucleotide variant | NM_014991.6(WDFY3):c.6925C>A (p.Gln2309Lys) | Inborn genetic diseases [RCV003204308] | uncertain significance | 4 | 84735111 | 84735111 | Human | 1 | name |
| 329378192 | CV2457206 | single nucleotide variant | NM_014991.6(WDFY3):c.6358C>T (p.Leu2120Phe) | Inborn genetic diseases [RCV003186661] | uncertain significance | 4 | 84740293 | 84740293 | Human | 1 | name |
| 329398201 | CV2464861 | single nucleotide variant | NM_014991.6(WDFY3):c.6129C>G (p.Asn2043Lys) | Inborn genetic diseases [RCV003220364]|WDFY3-related disorder [RCV004538921] | uncertain significance | 4 | 84741866 | 84741866 | Human | 2 | name , trait |
| 401866614 | CV2472802 | single nucleotide variant | NM_014991.6(WDFY3):c.7917C>A (p.Tyr2639Ter) | Neurodevelopmental delay [RCV003331499] | pathogenic | 4 | 84715342 | 84715342 | Human | 1 | name |
| 329384573 | CV2472874 | single nucleotide variant | NM_014991.6(WDFY3):c.9079T>C (p.Cys3027Arg) | not provided [RCV003214176] | uncertain significance | 4 | 84691756 | 84691756 | Human | | name |
| 329394848 | CV2472956 | single nucleotide variant | NM_014991.6(WDFY3):c.3746T>C (p.Ile1249Thr) | not provided [RCV003218939] | uncertain significance | 4 | 84787637 | 84787637 | Human | | name |
| 329395172 | CV2473046 | single nucleotide variant | NM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter) | Inborn genetic diseases [RCV003274355]|not provided [RCV003219030] | pathogenic | 4 | 84794624 | 84794624 | Human | 1 | name |
| 329352871 | CV2476932 | single nucleotide variant | NM_014991.6(WDFY3):c.3145G>C (p.Asp1049His) | not provided [RCV003223164] | likely benign | 4 | 84796543 | 84796543 | Human | | name |
| 329350503 | CV2477367 | single nucleotide variant | NM_014991.6(WDFY3):c.6389T>C (p.Ile2130Thr) | not provided [RCV003221692] | uncertain significance | 4 | 84740262 | 84740262 | Human | | name |
| 329350515 | CV2477370 | single nucleotide variant | NM_014991.6(WDFY3):c.4397C>G (p.Ser1466Cys) | not provided [RCV003221695] | uncertain significance | 4 | 84778624 | 84778624 | Human | | name |
| 329351009 | CV2477839 | single nucleotide variant | NM_014991.6(WDFY3):c.6761A>T (p.His2254Leu) | not provided [RCV003223952] | uncertain significance | 4 | 84736324 | 84736324 | Human | | name |
| 329351083 | CV2477912 | single nucleotide variant | NM_014991.6(WDFY3):c.3782T>G (p.Leu1261Trp) | not provided [RCV003224025] | uncertain significance | 4 | 84787601 | 84787601 | Human | | name |
| 329848578 | CV2523322 | single nucleotide variant | NM_014991.6(WDFY3):c.5500A>G (p.Asn1834Asp) | not provided [RCV003225336] | uncertain significance | 4 | 84755325 | 84755325 | Human | | name |
| 329848809 | CV2523557 | single nucleotide variant | NM_014991.6(WDFY3):c.8656G>C (p.Asp2886His) | not provided [RCV003225571] | uncertain significance | 4 | 84696764 | 84696764 | Human | | name |
| 329848042 | CV2667661 | single nucleotide variant | NM_014991.6(WDFY3):c.4696A>G (p.Ile1566Val) | not provided [RCV003229228] | uncertain significance | 4 | 84774878 | 84774878 | Human | | name |
| 329848088 | CV2667707 | single nucleotide variant | NM_014991.6(WDFY3):c.6707C>T (p.Ala2236Val) | not provided [RCV003229274] | uncertain significance | 4 | 84737234 | 84737234 | Human | | name |
| 329848173 | CV2667792 | single nucleotide variant | NM_014991.6(WDFY3):c.6803C>T (p.Thr2268Ile) | not provided [RCV003229359] | uncertain significance | 4 | 84736282 | 84736282 | Human | | name |
| 329953412 | CV2668389 | single nucleotide variant | NM_014991.6(WDFY3):c.3148A>G (p.Thr1050Ala) | not provided [RCV003230042] | uncertain significance | 4 | 84796540 | 84796540 | Human | | name |
| 329952268 | CV2668962 | single nucleotide variant | NM_014991.6(WDFY3):c.4744G>T (p.Asp1582Tyr) | not specified [RCV003231047] | uncertain significance | 4 | 84774830 | 84774830 | Human | | name |
| 329952971 | CV2669680 | single nucleotide variant | NM_014991.6(WDFY3):c.5069T>C (p.Ile1690Thr) | not provided [RCV003234304] | uncertain significance | 4 | 84765929 | 84765929 | Human | | name |
| 329953150 | CV2669862 | single nucleotide variant | NM_014991.6(WDFY3):c.7757T>G (p.Met2586Arg) | not provided [RCV003234486]|not specified [RCV004701027] | uncertain significance | 4 | 84717014 | 84717014 | Human | | name |
| 329954760 | CV2670689 | single nucleotide variant | NM_014991.6(WDFY3):c.8707G>A (p.Val2903Met) | not provided [RCV003235957] | uncertain significance | 4 | 84696164 | 84696164 | Human | | name |
| 329954825 | CV2670757 | single nucleotide variant | NM_014991.6(WDFY3):c.4261G>C (p.Ala1421Pro) | not provided [RCV003236025] | uncertain significance | 4 | 84780212 | 84780212 | Human | | name |
| 329954984 | CV2670919 | single nucleotide variant | NM_014991.6(WDFY3):c.6815A>C (p.Lys2272Thr) | not provided [RCV003236187] | uncertain significance | 4 | 84736270 | 84736270 | Human | | name |
| 401720776 | CV2673484 | single nucleotide variant | NM_014991.6(WDFY3):c.8233A>G (p.Asn2745Asp) | Inborn genetic diseases [RCV003244188] | uncertain significance | 4 | 84705496 | 84705496 | Human | 1 | name |
| 401754861 | CV2682319 | single nucleotide variant | NM_014991.6(WDFY3):c.3791G>A (p.Arg1264His) | Inborn genetic diseases [RCV003255120] | uncertain significance | 4 | 84787592 | 84787592 | Human | 1 | name |
| 401739386 | CV2684070 | single nucleotide variant | NM_014991.6(WDFY3):c.9840C>G (p.Asp3280Glu) | Inborn genetic diseases [RCV003240375] | uncertain significance | 4 | 84679226 | 84679226 | Human | 1 | name |
| 401731349 | CV2693747 | single nucleotide variant | NM_014991.6(WDFY3):c.3329A>G (p.His1110Arg) | Inborn genetic diseases [RCV003289853] | uncertain significance | 4 | 84794677 | 84794677 | Human | 1 | name |
| 401761822 | CV2713910 | single nucleotide variant | NM_014991.6(WDFY3):c.6548G>A (p.Gly2183Asp) | Inborn genetic diseases [RCV003257691] | uncertain significance | 4 | 84739036 | 84739036 | Human | 1 | name |
| 401783064 | CV2716112 | single nucleotide variant | NM_014991.6(WDFY3):c.4795G>A (p.Val1599Ile) | Inborn genetic diseases [RCV003309295] | uncertain significance | 4 | 84772889 | 84772889 | Human | 1 | name |
| 401783835 | CV2720481 | single nucleotide variant | NM_014991.6(WDFY3):c.6367C>T (p.Leu2123Phe) | Inborn genetic diseases [RCV003309982] | uncertain significance | 4 | 84740284 | 84740284 | Human | 1 | name |
| 401754651 | CV2722999 | single nucleotide variant | NM_014991.6(WDFY3):c.8389G>A (p.Ala2797Thr) | Inborn genetic diseases [RCV003278093] | uncertain significance | 4 | 84704391 | 84704391 | Human | 1 | name |
| 401764353 | CV2725572 | single nucleotide variant | NM_014991.6(WDFY3):c.4958G>A (p.Ser1653Asn) | Inborn genetic diseases [RCV003258532] | likely benign | 4 | 84766264 | 84766264 | Human | 1 | name |
| 401781175 | CV2726445 | single nucleotide variant | NM_014991.6(WDFY3):c.8617A>G (p.Lys2873Glu) | Inborn genetic diseases [RCV003308494] | uncertain significance | 4 | 84696803 | 84696803 | Human | 1 | name |
| 401731814 | CV2736628 | single nucleotide variant | NM_014991.6(WDFY3):c.3062G>T (p.Arg1021Met) | not provided [RCV003313390] | uncertain significance | 4 | 84796626 | 84796626 | Human | | name |
| 401733893 | CV2736911 | single nucleotide variant | NM_014991.6(WDFY3):c.9238G>A (p.Gly3080Ser) | not provided [RCV003313674] | uncertain significance | 4 | 84690631 | 84690631 | Human | | name |
| 401722062 | CV2737615 | single nucleotide variant | NM_014991.6(WDFY3):c.9100G>A (p.Ala3034Thr) | not provided [RCV003314787] | uncertain significance | 4 | 84691735 | 84691735 | Human | | name |
| 401798085 | CV2739205 | single nucleotide variant | NM_014991.6(WDFY3):c.6407A>T (p.His2136Leu) | not provided [RCV003318853] | uncertain significance | 4 | 84740244 | 84740244 | Human | | name |
| 401798738 | CV2739483 | single nucleotide variant | NM_014991.6(WDFY3):c.7145A>G (p.Lys2382Arg) | not provided [RCV003319131] | uncertain significance | 4 | 84733458 | 84733458 | Human | | name |
| 401796345 | CV2740527 | single nucleotide variant | NM_014991.6(WDFY3):c.3932C>T (p.Pro1311Leu) | not provided [RCV003321197] | uncertain significance | 4 | 84786109 | 84786109 | Human | | name |
| 401796347 | CV2740530 | single nucleotide variant | NM_014991.6(WDFY3):c.5353G>C (p.Val1785Leu) | not provided [RCV003321200] | uncertain significance | 4 | 84756997 | 84756997 | Human | | name |
| 401799162 | CV2741739 | single nucleotide variant | NM_014991.6(WDFY3):c.3541C>G (p.Arg1181Gly) | not provided [RCV003323147] | uncertain significance | 4 | 84789854 | 84789854 | Human | | name |
| 401798889 | CV2742658 | single nucleotide variant | NM_014991.6(WDFY3):c.3356C>T (p.Pro1119Leu) | not provided [RCV003325103] | uncertain significance | 4 | 84794650 | 84794650 | Human | | name |
| 401828735 | CV2743070 | single nucleotide variant | NM_014991.6(WDFY3):c.4963A>G (p.Asn1655Asp) | not provided [RCV003325778] | uncertain significance | 4 | 84766259 | 84766259 | Human | | name |
| 401829946 | CV2747589 | single nucleotide variant | NM_014991.6(WDFY3):c.5039A>C (p.His1680Pro) | not provided [RCV003329055] | uncertain significance | 4 | 84765959 | 84765959 | Human | | name |
| 401830355 | CV2748064 | single nucleotide variant | NM_014991.6(WDFY3):c.4006G>T (p.Val1336Leu) | not provided [RCV003329671] | uncertain significance | 4 | 84786035 | 84786035 | Human | | name |
| 401830785 | CV2748322 | single nucleotide variant | NM_014991.6(WDFY3):c.9974A>C (p.Asp3325Ala) | not provided [RCV003329931] | uncertain significance | 4 | 84679092 | 84679092 | Human | | name |
| 401873522 | CV2749769 | single nucleotide variant | NM_014991.6(WDFY3):c.9371T>G (p.Leu3124Arg) | not provided [RCV003332898] | uncertain significance | 4 | 84688258 | 84688258 | Human | | name |
| 401866723 | CV2758988 | single nucleotide variant | NM_014991.6(WDFY3):c.9955A>G (p.Thr3319Ala) | Inborn genetic diseases [RCV003345039] | likely benign | 4 | 84679111 | 84679111 | Human | 1 | name |
| 401889363 | CV2759791 | single nucleotide variant | NM_014991.6(WDFY3):c.5870C>T (p.Pro1957Leu) | Inborn genetic diseases [RCV003353856] | uncertain significance | 4 | 84751586 | 84751586 | Human | 1 | name |
| 401883961 | CV2761193 | single nucleotide variant | NM_014991.6(WDFY3):c.9439C>G (p.Arg3147Gly) | Inborn genetic diseases [RCV003351111] | uncertain significance | 4 | 84688190 | 84688190 | Human | 1 | name |
| 401875757 | CV2766994 | single nucleotide variant | NM_014991.6(WDFY3):c.6542C>A (p.Pro2181Gln) | Inborn genetic diseases [RCV003347815] | uncertain significance | 4 | 84739042 | 84739042 | Human | 1 | name |
| 401878875 | CV2770391 | single nucleotide variant | NM_014991.6(WDFY3):c.5754T>A (p.Asp1918Glu) | Inborn genetic diseases [RCV003384484] | uncertain significance | 4 | 84751702 | 84751702 | Human | 1 | name |
| 401866217 | CV2786276 | single nucleotide variant | NM_014991.6(WDFY3):c.6844C>G (p.Leu2282Val) | Inborn genetic diseases [RCV003379585] | uncertain significance | 4 | 84736241 | 84736241 | Human | 1 | name |
| 401869826 | CV2792193 | single nucleotide variant | NM_014991.6(WDFY3):c.6117G>T (p.Gln2039His) | Inborn genetic diseases [RCV003381043]|not provided [RCV004765810] | uncertain significance | 4 | 84741878 | 84741878 | Human | 1 | name |
| 401922928 | CV2796626 | single nucleotide variant | NM_014991.6(WDFY3):c.3425T>A (p.Val1142Asp) | WDFY3-related disorder [RCV004527940] | uncertain significance | 4 | 84794581 | 84794581 | Human | | name , trait |
| 401931381 | CV2798138 | single nucleotide variant | NM_014991.6(WDFY3):c.6707C>G (p.Ala2236Gly) | WDFY3-related disorder [RCV004527840] | uncertain significance | 4 | 84737234 | 84737234 | Human | | name , trait |
| 401921853 | CV2800020 | single nucleotide variant | NM_014991.6(WDFY3):c.6485T>C (p.Leu2162Pro) | WDFY3-related disorder [RCV004536762] | uncertain significance | 4 | 84739099 | 84739099 | Human | | name , trait |
| 401924451 | CV2800064 | single nucleotide variant | NM_014991.6(WDFY3):c.8492C>T (p.Ala2831Val) | WDFY3-related disorder [RCV004536773] | uncertain significance | 4 | 84702457 | 84702457 | Human | | name , trait |
| 401916557 | CV2802353 | single nucleotide variant | NM_014991.6(WDFY3):c.9521C>T (p.Ala3174Val) | WDFY3-related disorder [RCV004536659] | uncertain significance | 4 | 84688108 | 84688108 | Human | | name , trait |
| 401923395 | CV2822631 | single nucleotide variant | NM_014991.6(WDFY3):c.7064G>A (p.Arg2355Gln) | not provided [RCV003435061] | uncertain significance | 4 | 84733539 | 84733539 | Human | | name |
| 401928263 | CV2822635 | single nucleotide variant | NM_014991.6(WDFY3):c.5545A>G (p.Ser1849Gly) | WDFY3-related disorder [RCV004536809]|not provided [RCV003439378] | likely benign | 4 | 84755280 | 84755280 | Human | 1 | name , trait |
| 401923398 | CV2822636 | single nucleotide variant | NM_014991.6(WDFY3):c.5251T>G (p.Cys1751Gly) | WDFY3-related disorder [RCV004536810]|not provided [RCV003435063] | likely benign | 4 | 84757099 | 84757099 | Human | 1 | name , trait |
| 401923403 | CV2822639 | single nucleotide variant | NM_014991.6(WDFY3):c.3007C>G (p.Arg1003Gly) | not provided [RCV003435066] | uncertain significance | 4 | 84796681 | 84796681 | Human | | name |
| 401916917 | CV2829568 | single nucleotide variant | NM_014991.6(WDFY3):c.4009G>C (p.Ala1337Pro) | not provided [RCV003443612] | uncertain significance | 4 | 84786032 | 84786032 | Human | | name |
| 401917007 | CV2829612 | single nucleotide variant | NM_014991.6(WDFY3):c.3743A>T (p.Tyr1248Phe) | not provided [RCV003443656] | uncertain significance | 4 | 84787640 | 84787640 | Human | | name |
| 401917199 | CV2829717 | single nucleotide variant | NM_014991.6(WDFY3):c.7763A>C (p.Glu2588Ala) | not provided [RCV003443761] | uncertain significance | 4 | 84717008 | 84717008 | Human | | name |
| 401912910 | CV2830078 | single nucleotide variant | NM_014991.6(WDFY3):c.4052T>C (p.Ile1351Thr) | not provided [RCV003441292] | uncertain significance | 4 | 84785989 | 84785989 | Human | | name |
| 401913071 | CV2830181 | single nucleotide variant | NM_014991.6(WDFY3):c.7244C>T (p.Pro2415Leu) | not provided [RCV003441396] | uncertain significance | 4 | 84726889 | 84726889 | Human | | name |
| 401914507 | CV2830725 | single nucleotide variant | NM_014991.6(WDFY3):c.9126C>G (p.Ile3042Met) | not provided [RCV003442463] | uncertain significance | 4 | 84691709 | 84691709 | Human | | name |
| 401914901 | CV2830882 | single nucleotide variant | NM_014991.6(WDFY3):c.7690G>T (p.Val2564Leu) | not provided [RCV003442621] | uncertain significance | 4 | 84718486 | 84718486 | Human | | name |
| 401944154 | CV2840513 | single nucleotide variant | NM_014991.6(WDFY3):c.3457T>G (p.Ser1153Ala) | not provided [RCV003457122] | likely benign|uncertain significance | 4 | 84794549 | 84794549 | Human | | name |
| 404999471 | CV2851481 | single nucleotide variant | NM_014991.6(WDFY3):c.6208G>T (p.Asp2070Tyr) | Microcephaly 18, primary, autosomal dominant [RCV003493209] | uncertain significance | 4 | 84741787 | 84741787 | Human | 1 | name |
| 405216141 | CV2911331 | single nucleotide variant | NM_014991.6(WDFY3):c.9968G>A (p.Cys3323Tyr) | not provided [RCV003567809] | uncertain significance | 4 | 84679098 | 84679098 | Human | | name |
| 405283870 | CV3200399 | single nucleotide variant | NM_014991.6(WDFY3):c.7166T>C (p.Met2389Thr) | WDFY3-related disorder [RCV004542512] | likely benign | 4 | 84733437 | 84733437 | Human | | name , trait |
| 405274789 | CV3209599 | single nucleotide variant | NM_014991.6(WDFY3):c.3631G>A (p.Ala1211Thr) | Inborn genetic diseases [RCV004686806]|WDFY3-related disorder [RCV004543980] | likely benign | 4 | 84789764 | 84789764 | Human | 2 | name , trait |
| 405718743 | CV3227781 | duplication | NM_014991.6(WDFY3):c.7304dup (p.Tyr2435Ter) | Microcephaly 18, primary, autosomal dominant [RCV003992116] | likely pathogenic | 4 | 84724562 | 84724563 | Human | 1 | name |
| 405654961 | CV3228416 | single nucleotide variant | NM_014991.6(WDFY3):c.6797C>T (p.Ala2266Val) | not specified [RCV003995151] | uncertain significance | 4 | 84736288 | 84736288 | Human | | name |
| 405801994 | CV3349013 | single nucleotide variant | NM_014991.6(WDFY3):c.3008G>A (p.Arg1003Gln) | Inborn genetic diseases [RCV004478088] | uncertain significance | 4 | 84796680 | 84796680 | Human | 1 | name |
| 405801936 | CV3349014 | single nucleotide variant | NM_014991.6(WDFY3):c.3187T>G (p.Leu1063Val) | Inborn genetic diseases [RCV004478089] | likely benign | 4 | 84794960 | 84794960 | Human | 1 | name |
| 405802095 | CV3349016 | single nucleotide variant | NM_014991.6(WDFY3):c.4846A>C (p.Thr1616Pro) | Inborn genetic diseases [RCV004478091] | uncertain significance | 4 | 84772838 | 84772838 | Human | 1 | name |
| 405801938 | CV3349017 | single nucleotide variant | NM_014991.6(WDFY3):c.5200G>C (p.Gly1734Arg) | Inborn genetic diseases [RCV004478092] | uncertain significance | 4 | 84757150 | 84757150 | Human | 1 | name |
| 405801940 | CV3349018 | single nucleotide variant | NM_014991.6(WDFY3):c.5397C>G (p.Ile1799Met) | Inborn genetic diseases [RCV004478093] | uncertain significance | 4 | 84756953 | 84756953 | Human | 1 | name |
| 405801942 | CV3349019 | single nucleotide variant | NM_014991.6(WDFY3):c.6217A>G (p.Ile2073Val) | Inborn genetic diseases [RCV004478094] | uncertain significance | 4 | 84741778 | 84741778 | Human | 1 | name |
| 405801943 | CV3349020 | single nucleotide variant | NM_014991.6(WDFY3):c.6277C>A (p.His2093Asn) | Inborn genetic diseases [RCV004478095] | uncertain significance | 4 | 84740374 | 84740374 | Human | 1 | name |
| 405801945 | CV3349021 | single nucleotide variant | NM_014991.6(WDFY3):c.6664A>G (p.Thr2222Ala) | Inborn genetic diseases [RCV004478096] | uncertain significance | 4 | 84737277 | 84737277 | Human | 1 | name |
| 405801947 | CV3349022 | single nucleotide variant | NM_014991.6(WDFY3):c.6790G>C (p.Ala2264Pro) | Inborn genetic diseases [RCV004478097] | uncertain significance | 4 | 84736295 | 84736295 | Human | 1 | name |
| 405801951 | CV3349024 | single nucleotide variant | NM_014991.6(WDFY3):c.8555A>G (p.Tyr2852Cys) | Inborn genetic diseases [RCV004478099] | uncertain significance | 4 | 84702394 | 84702394 | Human | 1 | name |
| 405801953 | CV3349025 | single nucleotide variant | NM_014991.6(WDFY3):c.9956C>T (p.Thr3319Ile) | Inborn genetic diseases [RCV004478100] | uncertain significance | 4 | 84679110 | 84679110 | Human | 1 | name |
| 405853552 | CV3393221 | single nucleotide variant | NM_014991.6(WDFY3):c.8894C>A (p.Pro2965His) | Microcephaly 18, primary, autosomal dominant [RCV004545951] | uncertain significance | 4 | 84695977 | 84695977 | Human | 1 | name |
| 405854765 | CV3394880 | single nucleotide variant | NM_014991.6(WDFY3):c.4229G>T (p.Gly1410Val) | not provided [RCV004555021] | uncertain significance | 4 | 84780244 | 84780244 | Human | | name |
| 405872020 | CV3398190 | single nucleotide variant | NM_014991.6(WDFY3):c.7234A>G (p.Ser2412Gly) | not provided [RCV004575191] | uncertain significance | 4 | 84726899 | 84726899 | Human | | name |
| 407426407 | CV3411318 | single nucleotide variant | NM_014991.6(WDFY3):c.6440G>C (p.Cys2147Ser) | not provided [RCV004590495] | uncertain significance | 4 | 84740211 | 84740211 | Human | | name |
| 407427809 | CV3412107 | single nucleotide variant | NM_014991.6(WDFY3):c.6535A>G (p.Ile2179Val) | not provided [RCV004592278] | uncertain significance | 4 | 84739049 | 84739049 | Human | | name |
| 407427872 | CV3412170 | single nucleotide variant | NM_014991.6(WDFY3):c.3480A>C (p.Gln1160His) | not provided [RCV004592341] | uncertain significance | 4 | 84794526 | 84794526 | Human | | name |
| 407428172 | CV3412368 | single nucleotide variant | NM_014991.6(WDFY3):c.9353C>T (p.Thr3118Ile) | not provided [RCV004593536] | uncertain significance | 4 | 84690516 | 84690516 | Human | | name |
| 407429324 | CV3413711 | single nucleotide variant | NM_014991.6(WDFY3):c.3547C>T (p.Arg1183Ter) | Neurodevelopmental disorder [RCV004595120]|not provided [RCV004784208] | pathogenic | 4 | 84789848 | 84789848 | Human | 1 | name |
| 407429478 | CV3413865 | single nucleotide variant | NM_014991.6(WDFY3):c.3403C>T (p.His1135Tyr) | Neurodevelopmental disorder [RCV004595274] | likely pathogenic | 4 | 84794603 | 84794603 | Human | 1 | name |
| 407490796 | CV3416861 | single nucleotide variant | NM_014991.6(WDFY3):c.9361C>T (p.Gln3121Ter) | Syndromic intellectual disability [RCV004666689] | likely pathogenic | 4 | 84690508 | 84690508 | Human | 1 | name |
| 407451155 | CV3489601 | single nucleotide variant | NM_014991.6(WDFY3):c.7324A>G (p.Met2442Val) | Inborn genetic diseases [RCV004683566] | uncertain significance | 4 | 84724543 | 84724543 | Human | 1 | name |
| 407451157 | CV3489603 | single nucleotide variant | NM_014991.6(WDFY3):c.4112A>G (p.Asn1371Ser) | Inborn genetic diseases [RCV004683567] | uncertain significance | 4 | 84783025 | 84783025 | Human | 1 | name |
| 407451160 | CV3489604 | single nucleotide variant | NM_014991.6(WDFY3):c.8486G>C (p.Arg2829Pro) | Inborn genetic diseases [RCV004683568] | uncertain significance | 4 | 84702463 | 84702463 | Human | 1 | name |
| 407451169 | CV3489608 | single nucleotide variant | NM_014991.6(WDFY3):c.4048G>A (p.Ala1350Thr) | Inborn genetic diseases [RCV004683572] | uncertain significance | 4 | 84785993 | 84785993 | Human | 1 | name |
| 407451178 | CV3489611 | single nucleotide variant | NM_014991.6(WDFY3):c.6245G>T (p.Arg2082Ile) | Inborn genetic diseases [RCV004683575] | uncertain significance | 4 | 84740406 | 84740406 | Human | 1 | name |
| 407451181 | CV3489612 | single nucleotide variant | NM_014991.6(WDFY3):c.5074G>A (p.Val1692Ile) | Inborn genetic diseases [RCV004683576] | uncertain significance | 4 | 84765924 | 84765924 | Human | 1 | name |
| 407451190 | CV3489617 | single nucleotide variant | NM_014991.6(WDFY3):c.7370T>A (p.Val2457Glu) | Inborn genetic diseases [RCV004683580]|not provided [RCV004780748] | uncertain significance | 4 | 84724497 | 84724497 | Human | 1 | name |
| 407572677 | CV3497159 | single nucleotide variant | NM_014991.6(WDFY3):c.3827C>G (p.Pro1276Arg) | not provided [RCV004698979] | uncertain significance | 4 | 84787556 | 84787556 | Human | | name |
| 408365400 | CV3499873 | single nucleotide variant | NM_014991.6(WDFY3):c.4141C>T (p.Arg1381Trp) | not provided [RCV004721915] | pathogenic | 4 | 84782996 | 84782996 | Human | | name |
| 408366131 | CV3500098 | single nucleotide variant | NM_014991.6(WDFY3):c.4019G>A (p.Arg1340Gln) | not provided [RCV004722141] | uncertain significance | 4 | 84786022 | 84786022 | Human | | name |
| 408377347 | CV3501550 | single nucleotide variant | NM_014991.6(WDFY3):c.5833T>G (p.Cys1945Gly) | not provided [RCV004727608] | uncertain significance | 4 | 84751623 | 84751623 | Human | | name |
| 408381073 | CV3501805 | single nucleotide variant | NM_014991.6(WDFY3):c.5501A>C (p.Asn1834Thr) | not provided [RCV004729333] | uncertain significance | 4 | 84755324 | 84755324 | Human | | name |
| 408374243 | CV3502398 | single nucleotide variant | NM_014991.6(WDFY3):c.9691G>C (p.Val3231Leu) | not provided [RCV004725985] | uncertain significance | 4 | 84683978 | 84683978 | Human | | name |
| 408370341 | CV3503034 | single nucleotide variant | NM_014991.6(WDFY3):c.3041G>T (p.Gly1014Val) | not provided [RCV004724155] | uncertain significance | 4 | 84796647 | 84796647 | Human | | name |
| 408384302 | CV3505015 | single nucleotide variant | NM_014991.6(WDFY3):c.6535A>T (p.Ile2179Phe) | WDFY3-related disorder [RCV004731695] | uncertain significance | 4 | 84739049 | 84739049 | Human | | name , trait |
| 408385030 | CV3505491 | single nucleotide variant | NM_014991.6(WDFY3):c.4520T>A (p.Val1507Asp) | WDFY3-related disorder [RCV004732328] | uncertain significance | 4 | 84775137 | 84775137 | Human | | name , trait |
| 408367539 | CV3507527 | single nucleotide variant | NM_014991.6(WDFY3):c.8065G>C (p.Val2689Leu) | WDFY3-related disorder [RCV004758967] | uncertain significance | 4 | 84709325 | 84709325 | Human | | name , trait |
| 408367560 | CV3509437 | single nucleotide variant | NM_014991.6(WDFY3):c.4894C>G (p.Leu1632Val) | WDFY3-related disorder [RCV004759004] | uncertain significance | 4 | 84766328 | 84766328 | Human | | name , trait |
| 408367784 | CV3516144 | single nucleotide variant | NM_014991.6(WDFY3):c.6404A>G (p.Asn2135Ser) | WDFY3-related disorder [RCV004759237] | uncertain significance | 4 | 84740247 | 84740247 | Human | | name , trait |
| 408386800 | CV3518549 | single nucleotide variant | NM_014991.6(WDFY3):c.9431G>C (p.Ser3144Thr) | not provided [RCV004760867] | uncertain significance | 4 | 84688198 | 84688198 | Human | | name |
| 408386883 | CV3518591 | single nucleotide variant | NM_014991.6(WDFY3):c.8930G>T (p.Arg2977Leu) | not provided [RCV004760909] | uncertain significance | 4 | 84693004 | 84693004 | Human | | name |
| 408387144 | CV3518717 | single nucleotide variant | NM_014991.6(WDFY3):c.4822A>G (p.Ile1608Val) | not provided [RCV004761036] | uncertain significance | 4 | 84772862 | 84772862 | Human | | name |
| 408390251 | CV3519276 | single nucleotide variant | NM_014991.6(WDFY3):c.3622A>G (p.Ser1208Gly) | not provided [RCV004762585] | uncertain significance | 4 | 84789773 | 84789773 | Human | | name |
| 408385708 | CV3520311 | single nucleotide variant | NM_014991.6(WDFY3):c.9080G>C (p.Cys3027Ser) | not provided [RCV004760132] | uncertain significance | 4 | 84691755 | 84691755 | Human | | name |
| 408387741 | CV3520461 | single nucleotide variant | NM_014991.6(WDFY3):c.7438A>G (p.Lys2480Glu) | not provided [RCV004761293] | uncertain significance | 4 | 84724429 | 84724429 | Human | | name |
| 408388389 | CV3520776 | single nucleotide variant | NM_014991.6(WDFY3):c.3406T>C (p.Tyr1136His) | not provided [RCV004761609] | uncertain significance | 4 | 84794600 | 84794600 | Human | | name |
| 408388405 | CV3520783 | single nucleotide variant | NM_014991.6(WDFY3):c.5170A>G (p.Lys1724Glu) | not provided [RCV004761616] | uncertain significance | 4 | 84765828 | 84765828 | Human | | name |
| 408390927 | CV3521109 | single nucleotide variant | NM_014991.6(WDFY3):c.7220C>G (p.Ala2407Gly) | not provided [RCV004762931] | uncertain significance | 4 | 84733383 | 84733383 | Human | | name |
| 408391623 | CV3521391 | single nucleotide variant | NM_014991.6(WDFY3):c.7651A>G (p.Ser2551Gly) | not provided [RCV004763213] | uncertain significance | 4 | 84718525 | 84718525 | Human | | name |
| 408391627 | CV3521393 | single nucleotide variant | NM_014991.6(WDFY3):c.6037G>T (p.Val2013Leu) | not provided [RCV004763215] | uncertain significance | 4 | 84743736 | 84743736 | Human | | name |
| 408391676 | CV3521440 | single nucleotide variant | NM_014991.6(WDFY3):c.6893A>G (p.Asn2298Ser) | not provided [RCV004763262] | uncertain significance | 4 | 84736192 | 84736192 | Human | | name |
| 408386479 | CV3522542 | single nucleotide variant | NM_014991.6(WDFY3):c.9076G>T (p.Val3026Leu) | not provided [RCV004767902] | uncertain significance | 4 | 84691759 | 84691759 | Human | | name |
| 408386567 | CV3522586 | single nucleotide variant | NM_014991.6(WDFY3):c.8732T>C (p.Ile2911Thr) | not provided [RCV004767946] | uncertain significance | 4 | 84696139 | 84696139 | Human | | name |
| 408391615 | CV3523279 | single nucleotide variant | NM_014991.6(WDFY3):c.6151C>A (p.Arg2051Ser) | not provided [RCV004770652] | uncertain significance | 4 | 84741844 | 84741844 | Human | | name |
| 408380648 | CV3523617 | single nucleotide variant | NM_014991.6(WDFY3):c.3310A>G (p.Ser1104Gly) | not provided [RCV004766015] | uncertain significance | 4 | 84794696 | 84794696 | Human | | name |
| 408380896 | CV3523695 | single nucleotide variant | NM_014991.6(WDFY3):c.7179T>G (p.His2393Gln) | not provided [RCV004766093] | uncertain significance | 4 | 84733424 | 84733424 | Human | | name |
| 408387048 | CV3524365 | single nucleotide variant | NM_014991.6(WDFY3):c.6940C>T (p.His2314Tyr) | not provided [RCV004768239] | uncertain significance | 4 | 84735096 | 84735096 | Human | | name |
| 408390107 | CV3524927 | single nucleotide variant | NM_014991.6(WDFY3):c.6931A>G (p.Met2311Val) | not provided [RCV004769822] | uncertain significance | 4 | 84735105 | 84735105 | Human | | name |
| 408390118 | CV3524933 | single nucleotide variant | NM_014991.6(WDFY3):c.9841G>C (p.Glu3281Gln) | not provided [RCV004769828] | uncertain significance | 4 | 84679225 | 84679225 | Human | | name |
| 408392292 | CV3525190 | single nucleotide variant | NM_014991.6(WDFY3):c.8866G>C (p.Gly2956Arg) | not provided [RCV004771076] | uncertain significance | 4 | 84696005 | 84696005 | Human | | name |
| 408388072 | CV3527343 | single nucleotide variant | NM_014991.6(WDFY3):c.9181C>A (p.Leu3061Met) | not provided [RCV004773645] | uncertain significance | 4 | 84691654 | 84691654 | Human | | name |
| 408390369 | CV3527525 | single nucleotide variant | NM_014991.6(WDFY3):c.9199G>A (p.Asp3067Asn) | not provided [RCV004774792] | uncertain significance | 4 | 84691636 | 84691636 | Human | | name |
| 408390926 | CV3527745 | single nucleotide variant | NM_014991.6(WDFY3):c.4363C>G (p.Gln1455Glu) | not provided [RCV004775014] | uncertain significance | 4 | 84780110 | 84780110 | Human | | name |
| 408386491 | CV3528953 | single nucleotide variant | NM_014991.6(WDFY3):c.9901C>G (p.Pro3301Ala) | not provided [RCV004772786] | uncertain significance | 4 | 84679165 | 84679165 | Human | | name |
| 408388657 | CV3529079 | single nucleotide variant | NM_014991.6(WDFY3):c.5452A>G (p.Ile1818Val) | not provided [RCV004773901] | uncertain significance | 4 | 84755373 | 84755373 | Human | | name |
| 408388663 | CV3529081 | single nucleotide variant | NM_014991.6(WDFY3):c.4044C>G (p.Ser1348Arg) | not provided [RCV004773903] | uncertain significance | 4 | 84785997 | 84785997 | Human | | name |
| 596930918 | CV3529742 | single nucleotide variant | NM_014991.6(WDFY3):c.3131C>T (p.Ala1044Val) | not provided [RCV004780791] | uncertain significance | 4 | 84796557 | 84796557 | Human | | name |
| 596922955 | CV3530183 | single nucleotide variant | NM_014991.6(WDFY3):c.7642C>G (p.Leu2548Val) | not provided [RCV004776782] | uncertain significance | 4 | 84718534 | 84718534 | Human | | name |
| 596922956 | CV3530184 | single nucleotide variant | NM_014991.6(WDFY3):c.7226A>C (p.Glu2409Ala) | not provided [RCV004776783] | uncertain significance | 4 | 84726907 | 84726907 | Human | | name |
| 596923205 | CV3530297 | single nucleotide variant | NM_014991.6(WDFY3):c.8864T>C (p.Ile2955Thr) | not provided [RCV004776896] | likely pathogenic | 4 | 84696007 | 84696007 | Human | | name |
| 596923365 | CV3530351 | single nucleotide variant | NM_014991.6(WDFY3):c.6984A>T (p.Glu2328Asp) | not provided [RCV004776950] | uncertain significance | 4 | 84735052 | 84735052 | Human | | name |
| 596925633 | CV3530535 | single nucleotide variant | NM_014991.6(WDFY3):c.6335A>T (p.Gln2112Leu) | not provided [RCV004778120] | uncertain significance | 4 | 84740316 | 84740316 | Human | | name |
| 596926163 | CV3530717 | single nucleotide variant | NM_014991.6(WDFY3):c.8101G>A (p.Gly2701Ser) | not provided [RCV004778302] | uncertain significance | 4 | 84709025 | 84709025 | Human | | name |
| 596931670 | CV3531932 | single nucleotide variant | NM_014991.6(WDFY3):c.9775C>G (p.Pro3259Ala) | not provided [RCV004781494] | uncertain significance | 4 | 84682422 | 84682422 | Human | | name |
| 596931672 | CV3531933 | single nucleotide variant | NM_014991.6(WDFY3):c.6017A>T (p.Gln2006Leu) | not provided [RCV004781495] | uncertain significance | 4 | 84743756 | 84743756 | Human | | name |
| 596927941 | CV3532715 | single nucleotide variant | NM_014991.6(WDFY3):c.3215A>G (p.Asn1072Ser) | Inborn genetic diseases [RCV005301456]|not provided [RCV004778813] | uncertain significance | 4 | 84794932 | 84794932 | Human | 1 | name |
| 596921173 | CV3534815 | single nucleotide variant | NM_014991.6(WDFY3):c.3526C>A (p.Leu1176Ile) | not provided [RCV004784373] | uncertain significance | 4 | 84789869 | 84789869 | Human | | name |
| 596921377 | CV3534999 | single nucleotide variant | NM_014991.6(WDFY3):c.6371C>T (p.Thr2124Ile) | not provided [RCV004784557] | uncertain significance | 4 | 84740280 | 84740280 | Human | | name |
| 596925492 | CV3535811 | single nucleotide variant | NM_014991.6(WDFY3):c.9398C>G (p.Ala3133Gly) | Neurodevelopmental disorder [RCV004788241] | uncertain significance | 4 | 84688231 | 84688231 | Human | 1 | name |
| 596922303 | CV3537101 | single nucleotide variant | NM_014991.6(WDFY3):c.9707A>G (p.His3236Arg) | not provided [RCV004786096] | uncertain significance | 4 | 84683962 | 84683962 | Human | | name |
| 596922365 | CV3537140 | single nucleotide variant | NM_014991.6(WDFY3):c.5908A>C (p.Ile1970Leu) | not provided [RCV004786136] | uncertain significance | 4 | 84751548 | 84751548 | Human | | name |
| 596928658 | CV3540499 | single nucleotide variant | NM_014991.6(WDFY3):c.7978C>T (p.Pro2660Ser) | Inborn genetic diseases [RCV005291122]|not provided [RCV004794826] | uncertain significance | 4 | 84713223 | 84713223 | Human | 1 | name |
| 596928786 | CV3540559 | single nucleotide variant | NM_014991.6(WDFY3):c.8884G>A (p.Gly2962Ser) | not provided [RCV004794886] | uncertain significance | 4 | 84695987 | 84695987 | Human | | name |
| 596928898 | CV3540605 | single nucleotide variant | NM_014991.6(WDFY3):c.8758C>T (p.Gln2920Ter) | not provided [RCV004794933] | pathogenic | 4 | 84696113 | 84696113 | Human | | name |
| 596945002 | CV3543658 | single nucleotide variant | NM_014991.6(WDFY3):c.5962C>G (p.Leu1988Val) | not provided [RCV004801780] | uncertain significance | 4 | 84751494 | 84751494 | Human | | name |
| 596938856 | CV3549862 | single nucleotide variant | NM_014991.6(WDFY3):c.7264C>T (p.Pro2422Ser) | not provided [RCV004812903] | uncertain significance | 4 | 84726869 | 84726869 | Human | | name |
| 596939882 | CV3550664 | single nucleotide variant | NM_014991.6(WDFY3):c.6283C>G (p.Leu2095Val) | not provided [RCV004814564] | uncertain significance | 4 | 84740368 | 84740368 | Human | | name |
| 596940168 | CV3550816 | single nucleotide variant | NM_014991.6(WDFY3):c.5737A>G (p.Met1913Val) | not provided [RCV004814716] | uncertain significance | 4 | 84753699 | 84753699 | Human | | name |
| 597648146 | CV3551686 | single nucleotide variant | NM_014991.6(WDFY3):c.4777A>T (p.Thr1593Ser) | not provided [RCV004820399] | uncertain significance | 4 | 84772907 | 84772907 | Human | | name |
| 597648630 | CV3551741 | single nucleotide variant | NM_014991.6(WDFY3):c.4030A>G (p.Asn1344Asp) | not provided [RCV004820454] | uncertain significance | 4 | 84786011 | 84786011 | Human | | name |
| 597651627 | CV3552023 | single nucleotide variant | NM_014991.6(WDFY3):c.9265A>G (p.Asn3089Asp) | not provided [RCV004820736] | uncertain significance | 4 | 84690604 | 84690604 | Human | | name |
| 597623068 | CV3552453 | single nucleotide variant | NM_014991.6(WDFY3):c.9156G>A (p.Trp3052Ter) | Macrocephaly-autism syndrome [RCV004821399] | likely pathogenic | 4 | 84691679 | 84691679 | Human | 1 | name |
| 597631657 | CV3552669 | single nucleotide variant | NM_014991.6(WDFY3):c.5858T>G (p.Leu1953Arg) | not provided [RCV004823369] | uncertain significance | 4 | 84751598 | 84751598 | Human | | name |
| 597630279 | CV3623787 | single nucleotide variant | NM_014991.6(WDFY3):c.3980A>G (p.Tyr1327Cys) | Inborn genetic diseases [RCV004967277] | likely benign | 4 | 84786061 | 84786061 | Human | 1 | name |
| 597630283 | CV3623788 | single nucleotide variant | NM_014991.6(WDFY3):c.5299A>G (p.Thr1767Ala) | Inborn genetic diseases [RCV004967278] | uncertain significance | 4 | 84757051 | 84757051 | Human | 1 | name |
| 597630292 | CV3623790 | single nucleotide variant | NM_014991.6(WDFY3):c.5004T>G (p.Phe1668Leu) | Inborn genetic diseases [RCV004967280] | likely benign | 4 | 84765994 | 84765994 | Human | 1 | name |
| 597630308 | CV3623794 | single nucleotide variant | NM_014991.6(WDFY3):c.5593C>T (p.Arg1865Ter) | Inborn genetic diseases [RCV004967284] | pathogenic | 4 | 84753843 | 84753843 | Human | 1 | name |
| 597630317 | CV3623796 | single nucleotide variant | NM_014991.6(WDFY3):c.7369G>A (p.Val2457Met) | Inborn genetic diseases [RCV004967286] | uncertain significance | 4 | 84724498 | 84724498 | Human | 1 | name |
| 597630328 | CV3623799 | single nucleotide variant | NM_014991.6(WDFY3):c.8488G>A (p.Glu2830Lys) | Inborn genetic diseases [RCV004967289] | uncertain significance | 4 | 84702461 | 84702461 | Human | 1 | name |
| 597630332 | CV3623800 | single nucleotide variant | NM_014991.6(WDFY3):c.7552G>C (p.Glu2518Gln) | Inborn genetic diseases [RCV004967290] | uncertain significance | 4 | 84721462 | 84721462 | Human | 1 | name |
| 597630336 | CV3623801 | single nucleotide variant | NM_014991.6(WDFY3):c.6943A>G (p.Ile2315Val) | Inborn genetic diseases [RCV004967291] | uncertain significance | 4 | 84735093 | 84735093 | Human | 1 | name |
| 597630349 | CV3623804 | single nucleotide variant | NM_014991.6(WDFY3):c.9608T>C (p.Val3203Ala) | Inborn genetic diseases [RCV004967294] | uncertain significance | 4 | 84684061 | 84684061 | Human | 1 | name |
| 597630354 | CV3623805 | single nucleotide variant | NM_014991.6(WDFY3):c.3985C>T (p.Leu1329Phe) | Inborn genetic diseases [RCV004967295] | uncertain significance | 4 | 84786056 | 84786056 | Human | 1 | name |
| 597630357 | CV3623806 | single nucleotide variant | NM_014991.6(WDFY3):c.8243C>T (p.Thr2748Met) | Inborn genetic diseases [RCV004967296] | uncertain significance | 4 | 84705486 | 84705486 | Human | 1 | name |
| 597630361 | CV3623807 | single nucleotide variant | NM_014991.6(WDFY3):c.8480G>A (p.Ser2827Asn) | Inborn genetic diseases [RCV004967297] | uncertain significance | 4 | 84702469 | 84702469 | Human | 1 | name |
| 597630366 | CV3623808 | single nucleotide variant | NM_014991.6(WDFY3):c.5357G>C (p.Ser1786Thr) | Inborn genetic diseases [RCV004967298] | uncertain significance | 4 | 84756993 | 84756993 | Human | 1 | name |
| 597630370 | CV3623809 | single nucleotide variant | NM_014991.6(WDFY3):c.4832A>G (p.Glu1611Gly) | Inborn genetic diseases [RCV004967299] | uncertain significance | 4 | 84772852 | 84772852 | Human | 1 | name |
| 597630373 | CV3623810 | single nucleotide variant | NM_014991.6(WDFY3):c.7829C>T (p.Ala2610Val) | Inborn genetic diseases [RCV004967300] | uncertain significance | 4 | 84716942 | 84716942 | Human | 1 | name |
| 597630378 | CV3623811 | single nucleotide variant | NM_014991.6(WDFY3):c.3556G>A (p.Glu1186Lys) | Inborn genetic diseases [RCV004967301] | uncertain significance | 4 | 84789839 | 84789839 | Human | 1 | name |
| 597630382 | CV3623812 | single nucleotide variant | NM_014991.6(WDFY3):c.6605G>C (p.Arg2202Thr) | Inborn genetic diseases [RCV004967302] | uncertain significance | 4 | 84737336 | 84737336 | Human | 1 | name |
| 597630386 | CV3623813 | single nucleotide variant | NM_014991.6(WDFY3):c.3526C>T (p.Leu1176Phe) | Inborn genetic diseases [RCV004967303] | uncertain significance | 4 | 84789869 | 84789869 | Human | 1 | name |
| 597630397 | CV3623815 | single nucleotide variant | NM_014991.6(WDFY3):c.7657G>C (p.Gly2553Arg) | Inborn genetic diseases [RCV004967305] | likely pathogenic|uncertain significance | 4 | 84718519 | 84718519 | Human | 1 | name |
| 597630400 | CV3623816 | single nucleotide variant | NM_014991.6(WDFY3):c.6886G>C (p.Gly2296Arg) | Inborn genetic diseases [RCV004967306] | uncertain significance | 4 | 84736199 | 84736199 | Human | 1 | name |
| 597630404 | CV3623817 | single nucleotide variant | NM_014991.6(WDFY3):c.3172C>A (p.Leu1058Ile) | Inborn genetic diseases [RCV004967307] | uncertain significance | 4 | 84794975 | 84794975 | Human | 1 | name |
| 597696018 | CV3727870 | single nucleotide variant | NM_014991.6(WDFY3):c.9841G>A (p.Glu3281Lys) | Microcephaly 18, primary, autosomal dominant [RCV005032971] | uncertain significance | 4 | 84679225 | 84679225 | Human | 1 | name |
| 597654046 | CV3731383 | single nucleotide variant | NM_014991.6(WDFY3):c.4816A>T (p.Met1606Leu) | not provided [RCV005001563] | uncertain significance | 4 | 84772868 | 84772868 | Human | | name |
| 597663905 | CV3732476 | single nucleotide variant | NM_014991.6(WDFY3):c.8243C>G (p.Thr2748Arg) | not provided [RCV005003945] | uncertain significance | 4 | 84705486 | 84705486 | Human | | name |
| 597669586 | CV3732791 | single nucleotide variant | NM_014991.6(WDFY3):c.9374G>A (p.Gly3125Asp) | not provided [RCV005004623] | uncertain significance | 4 | 84688255 | 84688255 | Human | | name |
| 597716574 | CV3733276 | single nucleotide variant | NM_014991.6(WDFY3):c.5309C>T (p.Pro1770Leu) | not provided [RCV005052466] | uncertain significance | 4 | 84757041 | 84757041 | Human | | name |
| 597718250 | CV3733406 | single nucleotide variant | NM_014991.6(WDFY3):c.7415G>C (p.Gly2472Ala) | not provided [RCV005052596] | uncertain significance | 4 | 84724452 | 84724452 | Human | | name |
| 597833402 | CV3735566 | single nucleotide variant | NM_014991.6(WDFY3):c.8605C>A (p.Gln2869Lys) | not provided [RCV005063428] | uncertain significance | 4 | 84696815 | 84696815 | Human | | name |
| 597834123 | CV3735763 | single nucleotide variant | NM_014991.6(WDFY3):c.5392G>T (p.Val1798Phe) | not provided [RCV005063626] | uncertain significance | 4 | 84756958 | 84756958 | Human | | name |
| 598126923 | CV3882373 | single nucleotide variant | NM_014991.6(WDFY3):c.4393C>T (p.Arg1465Cys) | not provided [RCV005233924] | uncertain significance | 4 | 84778628 | 84778628 | Human | | name |
| 598127083 | CV3882451 | single nucleotide variant | NM_014991.6(WDFY3):c.6023A>G (p.Tyr2008Cys) | not provided [RCV005234003] | uncertain significance | 4 | 84743750 | 84743750 | Human | | name |
| 598127180 | CV3882500 | single nucleotide variant | NM_014991.6(WDFY3):c.6845T>A (p.Leu2282His) | not provided [RCV005234052] | uncertain significance | 4 | 84736240 | 84736240 | Human | | name |
| 598127225 | CV3882522 | single nucleotide variant | NM_014991.6(WDFY3):c.7029G>C (p.Glu2343Asp) | not provided [RCV005234074] | uncertain significance | 4 | 84733574 | 84733574 | Human | | name |
| 598122191 | CV3884255 | single nucleotide variant | NM_014991.6(WDFY3):c.9467T>C (p.Leu3156Ser) | not specified [RCV005236945] | uncertain significance | 4 | 84688162 | 84688162 | Human | | name |
| 598122404 | CV3884379 | single nucleotide variant | NM_014991.6(WDFY3):c.6326C>T (p.Thr2109Ile) | not specified [RCV005237070] | uncertain significance | 4 | 84740325 | 84740325 | Human | | name |
| 598125611 | CV3885844 | single nucleotide variant | NM_014991.6(WDFY3):c.5804C>T (p.Thr1935Ile) | not provided [RCV005241647] | uncertain significance | 4 | 84751652 | 84751652 | Human | | name |
| 598126392 | CV3886245 | single nucleotide variant | NM_014991.6(WDFY3):c.4504C>T (p.Leu1502Phe) | not provided [RCV005242048] | uncertain significance | 4 | 84778517 | 84778517 | Human | | name |
| 598126405 | CV3886253 | single nucleotide variant | NM_014991.6(WDFY3):c.8921C>T (p.Pro2974Leu) | not provided [RCV005242056] | uncertain significance | 4 | 84693013 | 84693013 | Human | | name |
| 598126407 | CV3886254 | single nucleotide variant | NM_014991.6(WDFY3):c.7918C>T (p.Leu2640Phe) | not provided [RCV005242057] | uncertain significance | 4 | 84715341 | 84715341 | Human | | name |
| 598123029 | CV3890170 | single nucleotide variant | NM_014991.6(WDFY3):c.4142G>A (p.Arg1381Gln) | not provided [RCV005250689] | uncertain significance | 4 | 84782995 | 84782995 | Human | | name |
| 598123220 | CV3890249 | single nucleotide variant | NM_014991.6(WDFY3):c.8905T>C (p.Phe2969Leu) | not provided [RCV005250768] | uncertain significance | 4 | 84693029 | 84693029 | Human | | name |
| 598123710 | CV3890433 | single nucleotide variant | NM_014991.6(WDFY3):c.6152G>A (p.Arg2051His) | not provided [RCV005250952] | uncertain significance | 4 | 84741843 | 84741843 | Human | | name |
| 598215024 | CV3890780 | single nucleotide variant | NM_014991.6(WDFY3):c.6388A>G (p.Ile2130Val) | not provided [RCV005251633] | uncertain significance | 4 | 84740263 | 84740263 | Human | | name |
| 598175170 | CV3890969 | single nucleotide variant | NM_014991.6(WDFY3):c.3608G>T (p.Gly1203Val) | not provided [RCV005251822] | uncertain significance | 4 | 84789787 | 84789787 | Human | | name |
| 598175867 | CV3891057 | single nucleotide variant | NM_014991.6(WDFY3):c.8919T>A (p.His2973Gln) | not provided [RCV005251910] | uncertain significance | 4 | 84693015 | 84693015 | Human | | name |
| 598237923 | CV3893380 | single nucleotide variant | NM_014991.6(WDFY3):c.8642C>T (p.Pro2881Leu) | not provided [RCV005256113] | uncertain significance | 4 | 84696778 | 84696778 | Human | | name |
| 598237021 | CV3893446 | single nucleotide variant | NM_014991.6(WDFY3):c.7044G>C (p.Glu2348Asp) | not provided [RCV005256179] | uncertain significance | 4 | 84733559 | 84733559 | Human | | name |
| 598233395 | CV3893685 | single nucleotide variant | NM_014991.6(WDFY3):c.6455A>C (p.His2152Pro) | not provided [RCV005256418] | uncertain significance | 4 | 84740196 | 84740196 | Human | | name |
| 598159917 | CV3897185 | single nucleotide variant | NM_014991.6(WDFY3):c.5054C>A (p.Thr1685Lys) | not provided [RCV005368159] | uncertain significance | 4 | 84765944 | 84765944 | Human | | name |
| 598219087 | CV3936883 | single nucleotide variant | NM_014991.6(WDFY3):c.4768A>G (p.Ile1590Val) | Inborn genetic diseases [RCV005293265] | uncertain significance | 4 | 84772916 | 84772916 | Human | 1 | name |
| 598219106 | CV3936886 | single nucleotide variant | NM_014991.6(WDFY3):c.9475C>G (p.Leu3159Val) | Inborn genetic diseases [RCV005293268] | uncertain significance | 4 | 84688154 | 84688154 | Human | 1 | name |
| 598257056 | CV3936887 | single nucleotide variant | NM_014991.6(WDFY3):c.3845C>T (p.Thr1282Ile) | Inborn genetic diseases [RCV005299739] | likely benign | 4 | 84787538 | 84787538 | Human | 1 | name |
| 598219118 | CV3936889 | single nucleotide variant | NM_014991.6(WDFY3):c.6640G>A (p.Val2214Ile) | Inborn genetic diseases [RCV005293270] | uncertain significance | 4 | 84737301 | 84737301 | Human | 1 | name |
| 598257067 | CV3936893 | single nucleotide variant | NM_014991.6(WDFY3):c.6628A>C (p.Ser2210Arg) | Inborn genetic diseases [RCV005299742] | uncertain significance | 4 | 84737313 | 84737313 | Human | 1 | name |
| 598219128 | CV3936894 | single nucleotide variant | NM_014991.6(WDFY3):c.8930G>A (p.Arg2977Gln) | Inborn genetic diseases [RCV005293272] | uncertain significance | 4 | 84693004 | 84693004 | Human | 1 | name |
| 598257072 | CV3936896 | single nucleotide variant | NM_014991.6(WDFY3):c.6554A>G (p.Tyr2185Cys) | Inborn genetic diseases [RCV005299743] | uncertain significance | 4 | 84739030 | 84739030 | Human | 1 | name |
| 598257077 | CV3936897 | single nucleotide variant | NM_014991.6(WDFY3):c.5861C>A (p.Thr1954Asn) | Inborn genetic diseases [RCV005299744] | uncertain significance | 4 | 84751595 | 84751595 | Human | 1 | name |
| 598257085 | CV3936899 | single nucleotide variant | NM_014991.6(WDFY3):c.5056G>A (p.Ala1686Thr) | Inborn genetic diseases [RCV005299746] | uncertain significance | 4 | 84765942 | 84765942 | Human | 1 | name |
| 598219138 | CV3936900 | single nucleotide variant | NM_014991.6(WDFY3):c.9266A>G (p.Asn3089Ser) | Inborn genetic diseases [RCV005293274] | uncertain significance | 4 | 84690603 | 84690603 | Human | 1 | name |
| 598219143 | CV3936901 | single nucleotide variant | NM_014991.6(WDFY3):c.6776T>C (p.Ile2259Thr) | Inborn genetic diseases [RCV005293275] | uncertain significance | 4 | 84736309 | 84736309 | Human | 1 | name |
| 598219147 | CV3936902 | single nucleotide variant | NM_014991.6(WDFY3):c.4394G>A (p.Arg1465His) | Inborn genetic diseases [RCV005293276] | uncertain significance | 4 | 84778627 | 84778627 | Human | 1 | name |
| 598219155 | CV3936904 | single nucleotide variant | NM_014991.6(WDFY3):c.3566T>C (p.Ile1189Thr) | Inborn genetic diseases [RCV005293277] | uncertain significance | 4 | 84789829 | 84789829 | Human | 1 | name |
| 598189929 | CV4008765 | single nucleotide variant | NM_014991.6(WDFY3):c.3220G>A (p.Val1074Ile) | Microcephaly 18, primary, autosomal dominant [RCV005396264] | uncertain significance | 4 | 84794927 | 84794927 | Human | 1 | name |
| 598189933 | CV4008766 | single nucleotide variant | NM_014991.6(WDFY3):c.3892T>G (p.Cys1298Gly) | Microcephaly 18, primary, autosomal dominant [RCV005396265] | uncertain significance | 4 | 84787491 | 84787491 | Human | 1 | name |
| 616934990 | CV4009217 | single nucleotide variant | NM_014991.6(WDFY3):c.4660C>T (p.Arg1554Ter) | not provided [RCV005402389] | pathogenic | 4 | 84774914 | 84774914 | Human | | name |
| 616935262 | CV4009418 | single nucleotide variant | NM_014991.6(WDFY3):c.9200A>G (p.Asp3067Gly) | not provided [RCV005402590] | uncertain significance | 4 | 84691635 | 84691635 | Human | | name |
| 616935277 | CV4009427 | single nucleotide variant | NM_014991.6(WDFY3):c.4465A>T (p.Thr1489Ser) | not provided [RCV005402599] | uncertain significance | 4 | 84778556 | 84778556 | Human | | name |
| 616935392 | CV4009501 | single nucleotide variant | NM_014991.6(WDFY3):c.7066G>A (p.Gly2356Arg) | not provided [RCV005402673] | uncertain significance | 4 | 84733537 | 84733537 | Human | | name |
| 616937842 | CV4013195 | single nucleotide variant | NM_014991.6(WDFY3):c.8568C>A (p.Phe2856Leu) | not provided [RCV005410662] | uncertain significance | 4 | 84702381 | 84702381 | Human | | name |
| 616938515 | CV4015007 | single nucleotide variant | NM_014991.6(WDFY3):c.4622G>C (p.Arg1541Thr) | not provided [RCV005412023] | uncertain significance | 4 | 84774952 | 84774952 | Human | | name |
| 616939269 | CV4015599 | single nucleotide variant | NM_014991.6(WDFY3):c.5948C>T (p.Thr1983Ile) | not provided [RCV005413111] | uncertain significance | 4 | 84751508 | 84751508 | Human | | name |
| 616939278 | CV4015609 | single nucleotide variant | NM_014991.6(WDFY3):c.6449A>G (p.Asn2150Ser) | not provided [RCV005413121] | uncertain significance | 4 | 84740202 | 84740202 | Human | | name |
| 616935553 | CV4016106 | single nucleotide variant | NM_014991.6(WDFY3):c.3414C>A (p.Cys1138Ter) | not provided [RCV005414972] | pathogenic | 4 | 84794592 | 84794592 | Human | | name |
| 616936712 | CV4016371 | single nucleotide variant | NM_014991.6(WDFY3):c.4916A>G (p.Asp1639Gly) | not provided [RCV005415237] | uncertain significance | 4 | 84766306 | 84766306 | Human | | name |
| 616936369 | CV4016404 | single nucleotide variant | NM_014991.6(WDFY3):c.3053C>A (p.Pro1018His) | not provided [RCV005415270] | uncertain significance | 4 | 84796635 | 84796635 | Human | | name |
| 617150139 | CV4017170 | single nucleotide variant | NM_014991.6(WDFY3):c.7657G>A (p.Gly2553Arg) | not provided [RCV005416827] | uncertain significance | 4 | 84718519 | 84718519 | Human | | name |
| 617150716 | CV4018815 | single nucleotide variant | NM_014991.6(WDFY3):c.9343A>G (p.Lys3115Glu) | not provided [RCV005423223] | uncertain significance | 4 | 84690526 | 84690526 | Human | | name |
| 617150218 | CV4019174 | single nucleotide variant | NM_014991.6(WDFY3):c.8288G>A (p.Arg2763Gln) | not provided [RCV005423582] | uncertain significance | 4 | 84705441 | 84705441 | Human | | name |
| 617154038 | CV4022201 | single nucleotide variant | NM_014991.6(WDFY3):c.5276T>C (p.Leu1759Pro) | not provided [RCV005429557] | uncertain significance | 4 | 84757074 | 84757074 | Human | | name |
| 617154373 | CV4022613 | single nucleotide variant | NM_014991.6(WDFY3):c.8812G>A (p.Gly2938Ser) | not provided [RCV005429970] | uncertain significance | 4 | 84696059 | 84696059 | Human | | name |
| 13208157 | CV424490 | single nucleotide variant | NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp) | Neurodevelopmental delay [RCV001782990]|not provided [RCV004721395]|not specified [RCV000496030] | likely pathogenic|uncertain significance | 4 | 84702482 | 84702482 | Human | 1 | name |
| 13463097 | CV439618 | single nucleotide variant | NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp) | Microcephaly 18, primary, autosomal dominant [RCV000515507]|not provided [RCV002524999] | pathogenic | 4 | 84715350 | 84715350 | Human | 1 | name |
| 13518629 | CV486359 | single nucleotide variant | NM_014991.6(WDFY3):c.5893T>C (p.Phe1965Leu) | Inborn genetic diseases [RCV003243204]|not provided [RCV000584962] | likely benign|uncertain significance | 4 | 84751563 | 84751563 | Human | 1 | name |
| 14396993 | CV612686 | single nucleotide variant | NM_014991.6(WDFY3):c.7397A>G (p.Gln2466Arg) | not provided [RCV000762098]|not specified [RCV005240539] | uncertain significance | 4 | 84724470 | 84724470 | Human | | name |
| 21071323 | CV790486 | single nucleotide variant | NM_014991.6(WDFY3):c.8444G>T (p.Gly2815Val) | Prostate cancer [RCV000987454] | likely pathogenic | 4 | 84702505 | 84702505 | Human | 2 | name |
| 21068857 | CV795598 | single nucleotide variant | NM_014991.6(WDFY3):c.7189G>A (p.Val2397Met) | not provided [RCV000998240] | uncertain significance | 4 | 84733414 | 84733414 | Human | | name |
| 34889397 | CV904895 | single nucleotide variant | NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys) | Esophageal atresia/tracheoesophageal fistula [RCV001172305]|Inborn genetic diseases [RCV002558733]|not specified [RCV002249754] | likely pathogenic|benign|uncertain significance | 4 | 84787646 | 84787646 | Human | 2 | name |
| 34896012 | CV916933 | single nucleotide variant | NM_014991.6(WDFY3):c.7799G>A (p.Ser2600Asn) | not specified [RCV001193266] | uncertain significance | 4 | 84716972 | 84716972 | Human | | name |
| 38598474 | CV964235 | single nucleotide variant | NM_014991.6(WDFY3):c.6820T>C (p.Ser2274Pro) | Microcephaly 18, primary, autosomal dominant [RCV001253647] | uncertain significance | 4 | 84736265 | 84736265 | Human | 1 | name |
| 39456380 | CV965483 | single nucleotide variant | NM_014991.6(WDFY3):c.3034G>C (p.Ala1012Pro) | Inborn genetic diseases [RCV004035340]|not provided [RCV001254961] | uncertain significance | 4 | 84796654 | 84796654 | Human | 1 | name |
| 39456915 | CV966245 | single nucleotide variant | NM_014991.6(WDFY3):c.5402G>A (p.Cys1801Tyr) | Microcephaly 18, primary, autosomal dominant [RCV004799373] | uncertain significance | 4 | 84756948 | 84756948 | Human | 1 | name |
| 40886861 | CV973431 | single nucleotide variant | NM_014991.6(WDFY3):c.7906G>A (p.Gly2636Arg) | Inborn genetic diseases [RCV001266148] | uncertain significance | 4 | 84715353 | 84715353 | Human | 1 | name |
| 126741318 | CV1020018 | single nucleotide variant | NM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys) | Inborn genetic diseases [RCV002546768]|Microcephaly 18, primary, autosomal dominant [RCV001336227] | likely benign|uncertain significance | 4 | 84672963 | 84672963 | Human | 2 | name |
| 150529267 | CV1288822 | single nucleotide variant | NM_014991.6(WDFY3):c.10334G>A (p.Arg3445His) | not provided [RCV001727290] | uncertain significance | 4 | 84677322 | 84677322 | Human | | name |
| 150550111 | CV1299830 | single nucleotide variant | NM_014991.6(WDFY3):c.10345G>A (p.Asp3449Asn) | not provided [RCV001752756] | uncertain significance | 4 | 84677311 | 84677311 | Human | | name |
| 151232591 | CV1316849 | single nucleotide variant | NM_014991.6(WDFY3):c.10475C>G (p.Ser3492Cys) | not provided [RCV001786669] | uncertain significance | 4 | 84672974 | 84672974 | Human | | name |
| 151803732 | CV1424701 | single nucleotide variant | NM_014991.6(WDFY3):c.10216G>A (p.Asp3406Asn) | not provided [RCV001867362] | uncertain significance | 4 | 84678211 | 84678211 | Human | | name |
| 153301576 | CV1687864 | single nucleotide variant | NM_014991.6(WDFY3):c.10102C>G (p.His3368Asp) | not provided [RCV002265090] | uncertain significance | 4 | 84678964 | 84678964 | Human | | name |
| 155265311 | CV1695503 | single nucleotide variant | NM_014991.6(WDFY3):c.10537T>G (p.Leu3513Val) | not provided [RCV002280235] | uncertain significance | 4 | 84672912 | 84672912 | Human | | name |
| 155267323 | CV1699544 | single nucleotide variant | NM_014991.6(WDFY3):c.10280T>G (p.Val3427Gly) | not provided [RCV002283339] | uncertain significance | 4 | 84677376 | 84677376 | Human | | name |
| 155642214 | CV1707282 | single nucleotide variant | NM_014991.6(WDFY3):c.10076A>G (p.His3359Arg) | not provided [RCV002288212] | uncertain significance | 4 | 84678990 | 84678990 | Human | | name |
| 155959188 | CV1936435 | single nucleotide variant | NM_014991.6(WDFY3):c.10531T>C (p.Tyr3511His) | not provided [RCV002512251] | uncertain significance | 4 | 84672918 | 84672918 | Human | | name |
| 156046423 | CV2216083 | single nucleotide variant | NM_014991.6(WDFY3):c.10087C>T (p.Pro3363Ser) | Inborn genetic diseases [RCV002692590] | uncertain significance | 4 | 84678979 | 84678979 | Human | 1 | name |
| 156259684 | CV2216256 | single nucleotide variant | NM_014991.6(WDFY3):c.10315G>C (p.Val3439Leu) | Inborn genetic diseases [RCV002702948] | uncertain significance | 4 | 84677341 | 84677341 | Human | 1 | name |
| 156298201 | CV2247021 | single nucleotide variant | NM_014991.6(WDFY3):c.10033G>A (p.Gly3345Ser) | Inborn genetic diseases [RCV002807872] | uncertain significance | 4 | 84679033 | 84679033 | Human | 1 | name |
| 156281394 | CV2288743 | single nucleotide variant | NM_014991.6(WDFY3):c.10039A>G (p.Ile3347Val) | Inborn genetic diseases [RCV002878221] | uncertain significance | 4 | 84679027 | 84679027 | Human | 1 | name |
| 243050649 | CV2403832 | single nucleotide variant | NM_014991.6(WDFY3):c.10418G>A (p.Arg3473Gln) | See cases [RCV003128503] | uncertain significance | 4 | 84677238 | 84677238 | Human | | name |
| 243062040 | CV2414245 | single nucleotide variant | NM_014991.6(WDFY3):c.10114A>C (p.Ile3372Leu) | Inborn genetic diseases [RCV004963572]|Microcephaly 18, primary, autosomal dominant [RCV003139314] | likely benign|uncertain significance | 4 | 84678952 | 84678952 | Human | 2 | name |
| 243049787 | CV2417163 | single nucleotide variant | NM_014991.6(WDFY3):c.10220A>G (p.Asn3407Ser) | not provided [RCV003152034] | uncertain significance | 4 | 84678207 | 84678207 | Human | | name |
| 401723430 | CV2724898 | single nucleotide variant | NM_014991.6(WDFY3):c.10567C>T (p.Pro3523Ser) | Inborn genetic diseases [RCV003268325] | uncertain significance | 4 | 84672882 | 84672882 | Human | 1 | name |
| 401799129 | CV2741705 | single nucleotide variant | NM_014991.6(WDFY3):c.10120G>A (p.Val3374Met) | not provided [RCV003323113] | uncertain significance | 4 | 84678946 | 84678946 | Human | | name |
| 401829178 | CV2747267 | single nucleotide variant | NM_014991.6(WDFY3):c.10292G>A (p.Arg3431Gln) | not provided [RCV003328732] | uncertain significance | 4 | 84677364 | 84677364 | Human | | name |
| 401865318 | CV2791605 | single nucleotide variant | NM_014991.6(WDFY3):c.10040T>C (p.Ile3347Thr) | Inborn genetic diseases [RCV003379330] | uncertain significance | 4 | 84679026 | 84679026 | Human | 1 | name |
| 401879415 | CV2791606 | single nucleotide variant | NM_014991.6(WDFY3):c.10045G>T (p.Val3349Leu) | Inborn genetic diseases [RCV003384653] | uncertain significance | 4 | 84679021 | 84679021 | Human | 1 | name |
| 401905402 | CV2796228 | single nucleotide variant | NM_014991.6(WDFY3):c.10417C>T (p.Arg3473Ter) | WDFY3-related disorder [RCV004538983]|not provided [RCV004794640] | uncertain significance | 4 | 84677239 | 84677239 | Human | 1 | name , trait |
| 401913067 | CV2830179 | single nucleotide variant | NM_014991.6(WDFY3):c.10016G>A (p.Ser3339Asn) | not provided [RCV003441394] | uncertain significance | 4 | 84679050 | 84679050 | Human | | name |
| 401914793 | CV2830839 | single nucleotide variant | NM_014991.6(WDFY3):c.10195C>T (p.His3399Tyr) | not provided [RCV003442578] | uncertain significance | 4 | 84678232 | 84678232 | Human | | name |
| 405291395 | CV3222376 | single nucleotide variant | NM_014991.6(WDFY3):c.10055C>G (p.Ser3352Ter) | Microcephaly 18, primary, autosomal dominant [RCV003985683] | not provided | 4 | 84679011 | 84679011 | Human | | name |
| 405802071 | CV3349004 | single nucleotide variant | NM_014991.6(WDFY3):c.10186C>G (p.Leu3396Val) | Inborn genetic diseases [RCV004478079] | uncertain significance | 4 | 84678241 | 84678241 | Human | 1 | name |
| 405802069 | CV3349005 | single nucleotide variant | NM_014991.6(WDFY3):c.10226A>G (p.His3409Arg) | Inborn genetic diseases [RCV004478080] | uncertain significance | 4 | 84678201 | 84678201 | Human | 1 | name |
| 407465224 | CV3489616 | single nucleotide variant | NM_014991.6(WDFY3):c.10280T>C (p.Val3427Ala) | Inborn genetic diseases [RCV004688712] | uncertain significance | 4 | 84677376 | 84677376 | Human | 1 | name |
| 408373530 | CV3502282 | single nucleotide variant | NM_014991.6(WDFY3):c.10153C>T (p.Arg3385Ter) | not provided [RCV004725869] | pathogenic | 4 | 84678274 | 84678274 | Human | | name |
| 408387227 | CV3518760 | single nucleotide variant | NM_014991.6(WDFY3):c.10565G>A (p.Gly3522Glu) | not provided [RCV004761079] | uncertain significance | 4 | 84672884 | 84672884 | Human | | name |
| 408390576 | CV3519426 | single nucleotide variant | NM_014991.6(WDFY3):c.10247T>C (p.Leu3416Ser) | not provided [RCV004762735] | uncertain significance | 4 | 84678180 | 84678180 | Human | | name |
| 408387486 | CV3524550 | single nucleotide variant | NM_014991.6(WDFY3):c.10210C>G (p.Arg3404Gly) | not provided [RCV004768424] | uncertain significance | 4 | 84678217 | 84678217 | Human | | name |
| 596926597 | CV3536276 | single nucleotide variant | NM_014991.6(WDFY3):c.10117G>T (p.Glu3373Ter) | Neurodevelopmental disorder [RCV004789683] | pathogenic | 4 | 84678949 | 84678949 | Human | 1 | name |
| 596942648 | CV3542650 | single nucleotide variant | NM_014991.6(WDFY3):c.10375A>G (p.Ser3459Gly) | not provided [RCV004798234] | uncertain significance | 4 | 84677281 | 84677281 | Human | | name |
| 597630276 | CV3623786 | single nucleotide variant | NM_014991.6(WDFY3):c.10124G>A (p.Arg3375Gln) | Inborn genetic diseases [RCV004967276] | uncertain significance | 4 | 84678942 | 84678942 | Human | 1 | name |
| 597630345 | CV3623803 | single nucleotide variant | NM_014991.6(WDFY3):c.10358A>G (p.Lys3453Arg) | Inborn genetic diseases [RCV004967293] | uncertain significance | 4 | 84677298 | 84677298 | Human | 1 | name |
| 597834189 | CV3735778 | single nucleotide variant | NM_014991.6(WDFY3):c.10523A>G (p.Asn3508Ser) | not provided [RCV005063641] | uncertain significance | 4 | 84672926 | 84672926 | Human | | name |
| 598232923 | CV3886495 | deletion | NM_014991.6(WDFY3):c.941_945del (p.Cys314fs) | Microcephaly 18, primary, autosomal dominant [RCV005255939] | likely pathogenic | 4 | 84829015 | 84829019 | Human | 1 | name |
| 598199844 | CV3892593 | single nucleotide variant | NM_014991.6(WDFY3):c.10159G>A (p.Glu3387Lys) | not provided [RCV005254426] | uncertain significance | 4 | 84678268 | 84678268 | Human | | name |
| 617150004 | CV4017231 | single nucleotide variant | NM_014991.6(WDFY3):c.10003T>G (p.Ser3335Ala) | not provided [RCV005416888] | uncertain significance | 4 | 84679063 | 84679063 | Human | | name |
| 150549261 | CV1295060 | deletion | NM_014991.6(WDFY3):c.2222_2225del (p.Thr741fs) | not provided [RCV001765021] | uncertain significance | 4 | 84810007 | 84810010 | Human | | name |
| 596929224 | CV3531015 | microsatellite | NM_014991.6(WDFY3):c.6782GAG[1] (p.Gly2262del) | not provided [RCV004779589] | uncertain significance | 4 | 84736298 | 84736300 | Human | | name |
| 616939183 | CV4015513 | microsatellite | NM_014991.6(WDFY3):c.4771TCT[1] (p.Ser1592del) | not provided [RCV005413025] | uncertain significance | 4 | 84772908 | 84772910 | Human | | name |
| 38596918 | CV963568 | deletion | NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs) | Microcephaly 18, primary, autosomal dominant [RCV001252629] | pathogenic | 4 | 84803437 | 84803438 | Human | 1 | name |
| 126731693 | CV1020020 | deletion | NM_014991.6(WDFY3):c.6739_6740del (p.Cys2247fs) | not provided [RCV005412851] | pathogenic | 4 | 84737201 | 84737202 | Human | | name |
| 127286218 | CV1161800 | deletion | NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs) | Macrocephaly [RCV001526633]|Microcephaly 18, primary, autosomal dominant [RCV003151864] | likely pathogenic | 4 | 84765883 | 84765884 | Human | 3 | name |
| 150547416 | CV1316014 | microsatellite | NM_014991.6(WDFY3):c.7375_7376dup (p.Ser2459fs) | Neurodevelopmental delay [RCV001785290] | likely pathogenic | 4 | 84724490 | 84724491 | Human | | name |
| 150547432 | CV1316022 | deletion | NM_014991.6(WDFY3):c.9017_9027del (p.Asp3006fs) | Neurodevelopmental delay [RCV001785298] | likely pathogenic | 4 | 84692907 | 84692917 | Human | 1 | name |
| 150547440 | CV1316026 | deletion | NM_014991.6(WDFY3):c.9711_9714del (p.Asp3238fs) | Neurodevelopmental delay [RCV001785302] | likely pathogenic | 4 | 84683955 | 84683958 | Human | 1 | name |
| 156105155 | CV2361139 | microsatellite | NM_014991.6(WDFY3):c.10337CTG[2] (p.Ala3448del) | Inborn genetic diseases [RCV002662223] | uncertain significance | 4 | 84677311 | 84677313 | Human | | name |
| 11345392 | CV237532 | duplication | NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs) | Neurodevelopmental delay [RCV001782714]|not specified [RCV000224989] | pathogenic|likely pathogenic|uncertain significance | 4 | 84696003 | 84696004 | Human | 1 | name |
| 597630305 | CV3623793 | deletion | NM_014991.6(WDFY3):c.7949_7950del (p.Lys2650fs) | Inborn genetic diseases [RCV004967283] | pathogenic | 4 | 84715309 | 84715310 | Human | 1 | name |
| 597937894 | CV3787965 | microsatellite | NM_014991.6(WDFY3):c.4826_4829del (p.Asn1609fs) | not provided [RCV005132844] | pathogenic | 4 | 84772855 | 84772858 | Human | | name |
| 616935464 | CV4009538 | deletion | NM_014991.6(WDFY3):c.1014_1016del (p.Ile339del) | not provided [RCV005402710] | uncertain significance | 4 | 84826922 | 84826924 | Human | | name |
| 156220949 | CV2397369 | deletion | NM_014991.6(WDFY3):c.6062_6064del (p.Asp2021del) | Inborn genetic diseases [RCV002744726] | uncertain significance | 4 | 84743709 | 84743711 | Human | 1 | name |
| 405855168 | CV3395766 | insertion | NM_014991.6(WDFY3):c.7297_7298insC (p.Val2433fs) | Microcephaly 18, primary, autosomal dominant [RCV004556029] | pathogenic | 4 | 84724569 | 84724570 | Human | 1 | name |
| 401935056 | CV2798337 | indel | NM_014991.6(WDFY3):c.349_350delinsGA (p.Ser117Asp) | WDFY3-related disorder [RCV004539022] | uncertain significance | 4 | 84841218 | 84841219 | Human | | name , trait |
| 127328384 | CV976528 | microsatellite | NM_014991.6(WDFY3):c.349_350del (p.Gln116_Ser117insTer) | not provided [RCV001507251] | pathogenic | 4 | 84841218 | 84841219 | Human | | name |
| 155641813 | CV1707143 | indel | NM_014991.6(WDFY3):c.10491_10496delinsAAAAA (p.Ile3499fs) | not provided [RCV002288073] | uncertain significance | 4 | 84672953 | 84672958 | Human | | name |
| 155798493 | CV1860683 | deletion | NM_014991.6(WDFY3):c.9108_9113del (p.Glu3036_Asn3038delinsAsp) | not provided [RCV002467326] | uncertain significance | 4 | 84691722 | 84691727 | Human | | name |
| 156440102 | CV2401787 | indel | NM_014991.6(WDFY3):c.1201_1205delinsATTTC (p.Gln401_Ile402delinsIleSer) | not provided [RCV003110075] | uncertain significance | 4 | 84821470 | 84821474 | Human | | name |