TAOK2 — 936 ClinVar variants
All ClinVar germline TAOK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 454 flagged for review →
1 Pathogenic · 9 Conflicting · 26 Benign · 364 Likely benign · 536 Uncertain significance
Full TAOK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 454
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TAOK2 p.Arg1196Gln Conflicting Single submitter
- TAOK2 p.Arg1224Cys Conflicting Single submitter
- TAOK2 p.Arg1226Cys Conflicting Single submitter
- TAOK2 p.Arg341Gln Conflicting Single submitter
- TAOK2 p.Arg746Cys Conflicting Single submitter
- TAOK2 p.Gly1167Asp Conflicting Single submitter
- TAOK2 p.Pro1207Leu Conflicting Single submitter
- TAOK2 p.Thr808Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 373
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 373
- TAOK2 p.Ala1057Val Uncertain significance Multiple submitters
- TAOK2 p.Ala1062Val Uncertain significance Multiple submitters
- TAOK2 p.Ala1148Thr Uncertain significance Multiple submitters
- TAOK2 p.Ala444Val Uncertain significance Multiple submitters
- TAOK2 p.Ala733Val Uncertain significance Multiple submitters
- TAOK2 p.Ala747Val Uncertain significance Multiple submitters
- TAOK2 p.Ala761Val Uncertain significance Multiple submitters
- TAOK2 p.Ala988Val Uncertain significance Multiple submitters
- TAOK2 p.Arg1071Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg1071Trp Uncertain significance Multiple submitters
- TAOK2 p.Arg1076Leu Uncertain significance Multiple submitters
- TAOK2 p.Arg1078Cys Uncertain significance Multiple submitters
- TAOK2 p.Arg1083Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg1098Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg1126His Uncertain significance Multiple submitters
- TAOK2 p.Arg1133Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg1134Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg1135His Uncertain significance Multiple submitters
- TAOK2 p.Arg1138Cys Uncertain significance Multiple submitters
- TAOK2 p.Arg1190Trp Uncertain significance Multiple submitters
- TAOK2 p.Arg1196Trp Uncertain significance Multiple submitters
- TAOK2 p.Arg1221Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg1226Pro Uncertain significance Multiple submitters
- TAOK2 p.Arg279His Uncertain significance Multiple submitters
- TAOK2 p.Arg456His Uncertain significance Multiple submitters
- TAOK2 p.Arg512Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg532Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg634Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg644Cys Uncertain significance Multiple submitters
- TAOK2 p.Arg648Cys Uncertain significance Multiple submitters
- TAOK2 p.Arg663Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg693Gln Uncertain significance Multiple submitters
- TAOK2 p.Arg723Gln Uncertain significance Multiple submitters
- TAOK2 p.Asn67Ser Uncertain significance Multiple submitters
- TAOK2 p.Asp836Asn Uncertain significance Multiple submitters
- TAOK2 p.Gln1072Glu Uncertain significance Multiple submitters
- TAOK2 p.Gln1101Arg Uncertain significance Multiple submitters
- TAOK2 p.Gln431Glu Uncertain significance Multiple submitters
- TAOK2 p.Gln637Leu Uncertain significance Multiple submitters
- TAOK2 p.Gln659Glu Uncertain significance Multiple submitters
- TAOK2 p.Gly1023Ser Uncertain significance Multiple submitters
-
TAOK2 p.Gly1110Ser
Uncertain significance
Multiple submitters
TAOK2-related disorder
- TAOK2 p.Gly1220Arg Uncertain significance Multiple submitters
- TAOK2 p.Ile1081Met Uncertain significance Multiple submitters
- TAOK2 p.Ile359Val Uncertain significance Multiple submitters
- TAOK2 p.Ile911Thr Uncertain significance Multiple submitters
- TAOK2 p.Leu1026Val Uncertain significance Multiple submitters
- TAOK2 p.Leu631Val Uncertain significance Multiple submitters
- TAOK2 p.Leu834Met Uncertain significance Multiple submitters
- TAOK2 p.Leu849Pro Uncertain significance Multiple submitters
- TAOK2 p.Leu854Arg Uncertain significance Multiple submitters
- TAOK2 p.Leu951Ile Uncertain significance Multiple submitters
- TAOK2 p.Met401Val Uncertain significance Multiple submitters
- TAOK2 p.Met402Leu Uncertain significance Multiple submitters
- TAOK2 p.Pro1233Leu Uncertain significance Multiple submitters
- TAOK2 p.Pro324Leu Uncertain significance Multiple submitters
- TAOK2 p.Pro429Ser Uncertain significance Multiple submitters
- TAOK2 p.Pro775Leu Uncertain significance Multiple submitters
- TAOK2 p.Pro852Leu Uncertain significance Multiple submitters
- TAOK2 p.Pro937Leu Uncertain significance Multiple submitters
- TAOK2 p.Pro939Leu Uncertain significance Multiple submitters
- TAOK2 p.Thr1024Ala Uncertain significance Multiple submitters
- TAOK2 p.Thr1139Ile Uncertain significance Multiple submitters
- TAOK2 p.Thr808Pro Uncertain significance Multiple submitters
- TAOK2 p.Trp889Ser Uncertain significance Multiple submitters
- TAOK2 p.Val208Ile Uncertain significance Multiple submitters
- TAOK2 p.Val354Leu Uncertain significance Multiple submitters
- TAOK2 p.Val368Ile Uncertain significance Multiple submitters
- TAOK2 p.Val698Met Uncertain significance Multiple submitters
- TAOK2 p.Ala1009Thr Uncertain significance Single submitter
- TAOK2 p.Ala1021Thr Uncertain significance Single submitter
- TAOK2 p.Ala1028Ser Uncertain significance Single submitter
- TAOK2 p.Ala1047Asp Uncertain significance Single submitter
- TAOK2 p.Ala1048Ser Uncertain significance Single submitter
- TAOK2 p.Ala1065Val Uncertain significance Single submitter
- TAOK2 p.Ala1164Thr Uncertain significance Single submitter
- TAOK2 p.Ala1230Ser Uncertain significance Single submitter
- TAOK2 p.Ala129Thr Uncertain significance Single submitter
- TAOK2 p.Ala173Val Uncertain significance Single submitter
- TAOK2 p.Ala190Ser Uncertain significance Single submitter
- TAOK2 p.Ala230Val Uncertain significance Single submitter
- TAOK2 p.Ala320Pro Uncertain significance Single submitter
- TAOK2 p.Ala361Ser Uncertain significance Single submitter
- TAOK2 p.Ala374Val Uncertain significance Single submitter
- TAOK2 p.Ala454Thr Uncertain significance Single submitter
- TAOK2 p.Ala458Val Uncertain significance Single submitter
- TAOK2 p.Ala487Glu Uncertain significance Single submitter
- TAOK2 p.Ala508Gly Uncertain significance Single submitter
- TAOK2 p.Ala522Thr Uncertain significance Single submitter
- TAOK2 p.Ala522Val Uncertain significance Single submitter
- TAOK2 p.Ala539Ser Uncertain significance Single submitter
- TAOK2 p.Ala539Val Uncertain significance Single submitter
- TAOK2 p.Ala548Gly Uncertain significance Single submitter
- TAOK2 p.Ala554Thr Uncertain significance Single submitter
- TAOK2 p.Ala625Pro Uncertain significance Single submitter
- TAOK2 p.Ala703Val Uncertain significance Single submitter
- TAOK2 p.Ala734Ser Uncertain significance Single submitter
- TAOK2 p.Ala795Gly Uncertain significance Single submitter
- TAOK2 p.Ala940Gly Uncertain significance Single submitter
- TAOK2 p.Ala978Val Uncertain significance Single submitter
- TAOK2 p.Arg1035Cys Uncertain significance Single submitter
- TAOK2 p.Arg1035His Uncertain significance Single submitter
- TAOK2 p.Arg1036Gln Uncertain significance Single submitter
- TAOK2 p.Arg1076Trp Uncertain significance Single submitter
- TAOK2 p.Arg1078His Uncertain significance Single submitter
- TAOK2 p.Arg1079Gln Uncertain significance Single submitter
- TAOK2 p.Arg1087Trp Uncertain significance Single submitter
- TAOK2 p.Arg1091Cys Uncertain significance Single submitter
- TAOK2 p.Arg1098Trp Uncertain significance Single submitter
- TAOK2 p.Arg1109Trp Uncertain significance Single submitter
- TAOK2 p.Arg1124Cys Uncertain significance Single submitter
- TAOK2 p.Arg1126Cys Uncertain significance Single submitter
- TAOK2 p.Arg1133Trp Uncertain significance Single submitter
- TAOK2 p.Arg1135Cys Uncertain significance Single submitter
- TAOK2 p.Arg1135Pro Uncertain significance Single submitter
- TAOK2 p.Arg1149Ser Uncertain significance Single submitter
- TAOK2 p.Arg1160His Uncertain significance Single submitter
- TAOK2 p.Arg1187Gln Uncertain significance Single submitter
- TAOK2 p.Arg1187Leu Uncertain significance Single submitter
- TAOK2 p.Arg1190Gln Uncertain significance Single submitter
- TAOK2 p.Arg1193Gln Uncertain significance Single submitter
- TAOK2 p.Arg1200Gly Uncertain significance Single submitter
- TAOK2 p.Arg1200His Uncertain significance Single submitter
- TAOK2 p.Arg1224His Uncertain significance Single submitter
- TAOK2 p.Arg1224Pro Uncertain significance Single submitter
- TAOK2 p.Arg1226Ser Uncertain significance Single submitter
- TAOK2 p.Arg150Gly Uncertain significance Single submitter
- TAOK2 p.Arg221Gln Uncertain significance Single submitter
- TAOK2 p.Arg221Trp Uncertain significance Single submitter
- TAOK2 p.Arg279Cys Uncertain significance Single submitter
-
TAOK2 p.Arg285Gln
Uncertain significance
Single submitter
neurodevelopmental disorder
- TAOK2 p.Arg397Gln Uncertain significance Single submitter
- TAOK2 p.Arg397Trp Uncertain significance Single submitter
- TAOK2 p.Arg418Gln Uncertain significance Single submitter
- TAOK2 p.Arg418Leu Uncertain significance Single submitter
- TAOK2 p.Arg455His Uncertain significance Single submitter
- TAOK2 p.Arg457Gln Uncertain significance Single submitter
- TAOK2 p.Arg461His Uncertain significance Single submitter
- TAOK2 p.Arg463Gln Uncertain significance Single submitter
- TAOK2 p.Arg477His Uncertain significance Single submitter
- TAOK2 p.Arg514Lys Uncertain significance Single submitter
- TAOK2 p.Arg517Gln Uncertain significance Single submitter
- TAOK2 p.Arg526Gln Uncertain significance Single submitter
- TAOK2 p.Arg544Gln Uncertain significance Single submitter
- TAOK2 p.Arg545Gln Uncertain significance Single submitter
- TAOK2 p.Arg555Gln Uncertain significance Single submitter
- TAOK2 p.Arg590His Uncertain significance Single submitter
- TAOK2 p.Arg607Gln Uncertain significance Single submitter
- TAOK2 p.Arg615Gln Uncertain significance Single submitter
- TAOK2 p.Arg633Gln Uncertain significance Single submitter
Predictors split 73
The independent predictors disagree with each other — read with care.
- TAOK2 p.Arg341Trp Uncertain significance Multiple submitters
- TAOK2 p.Arg532Trp Uncertain significance Multiple submitters
- TAOK2 p.Arg636His Uncertain significance Multiple submitters
- TAOK2 p.Asp660Val Uncertain significance Multiple submitters
- TAOK2 p.Glu389Asp Uncertain significance Multiple submitters
- TAOK2 p.Glu560Lys Uncertain significance Multiple submitters
- TAOK2 p.Gly8Arg Uncertain significance Multiple submitters
- TAOK2 p.Phe1017Leu Uncertain significance Multiple submitters
- TAOK2 p.Ala1048Pro Uncertain significance Single submitter
- TAOK2 p.Ala625Val Likely benign Single submitter
- TAOK2 p.Arg255Gln Uncertain significance Single submitter
- TAOK2 p.Arg32Gln Uncertain significance Single submitter
- TAOK2 p.Arg32Trp Uncertain significance Single submitter
- TAOK2 p.Arg461Cys Uncertain significance Single submitter
- TAOK2 p.Arg463Pro Uncertain significance Single submitter
- TAOK2 p.Arg497Gln Uncertain significance Single submitter
- TAOK2 p.Arg523Trp Uncertain significance Single submitter
- TAOK2 p.Arg526Trp Uncertain significance Single submitter
- TAOK2 p.Arg544Trp Uncertain significance Single submitter
- TAOK2 p.Arg545Trp Uncertain significance Single submitter
- TAOK2 p.Arg562Trp Uncertain significance Single submitter
- TAOK2 p.Arg590Leu Uncertain significance Single submitter
- TAOK2 p.Arg607Trp Uncertain significance Single submitter
- TAOK2 p.Arg615Trp Uncertain significance Single submitter
- TAOK2 p.Arg6Gln Uncertain significance Single submitter
- TAOK2 p.Arg6Pro Uncertain significance Single submitter
- TAOK2 p.Arg723Trp Uncertain significance Single submitter
- TAOK2 p.Arg724Leu Uncertain significance Single submitter
- TAOK2 p.Arg78Leu Uncertain significance Single submitter
- TAOK2 p.Arg92Trp Uncertain significance Single submitter
- TAOK2 p.Asn601Lys Uncertain significance Single submitter
- TAOK2 p.Asn667Lys Uncertain significance Single submitter
- TAOK2 p.Asp259Asn Uncertain significance Single submitter
- TAOK2 p.Asp259Glu Conflicting Single submitter
- TAOK2 p.Asp428Gly Uncertain significance Single submitter
- TAOK2 p.Asp47Asn Uncertain significance Single submitter
- TAOK2 p.Asp665Gly Uncertain significance Single submitter
- TAOK2 p.Cys1103Arg Uncertain significance Single submitter
- TAOK2 p.Gln484His Uncertain significance Single submitter
- TAOK2 p.Glu241Lys Uncertain significance Single submitter
- TAOK2 p.Glu383Lys Uncertain significance Single submitter
- TAOK2 p.Glu561Gly Uncertain significance Single submitter
- TAOK2 p.Glu596Gly Uncertain significance Single submitter
- TAOK2 p.Glu618Gln Uncertain significance Single submitter
- TAOK2 p.Glu685Asp Uncertain significance Single submitter
- TAOK2 p.Glu685Lys Uncertain significance Single submitter
- TAOK2 p.Gly1046Glu Uncertain significance Single submitter
- TAOK2 p.Gly1066Arg Uncertain significance Single submitter
- TAOK2 p.Gly343Arg Uncertain significance Single submitter
- TAOK2 p.Gly494Arg Uncertain significance Single submitter
- TAOK2 p.Gly8Ala Uncertain significance Single submitter
- TAOK2 p.Gly960Glu Uncertain significance Single submitter
- TAOK2 p.His278Gln Uncertain significance Single submitter
- TAOK2 p.His465Tyr Uncertain significance Single submitter
- TAOK2 p.Ile549Thr Uncertain significance Single submitter
- TAOK2 p.Leu1180Val Uncertain significance Single submitter
-
TAOK2 p.Leu164Phe
Uncertain significance
Single submitter
autism
- TAOK2 p.Leu992Ile Uncertain significance Single submitter
- TAOK2 p.Lys26Asn Uncertain significance Single submitter
- TAOK2 p.Lys574Glu Uncertain significance Single submitter
- TAOK2 p.Lys609Thr Uncertain significance Single submitter
- TAOK2 p.Lys82Thr Uncertain significance Single submitter
- TAOK2 p.Met402Ile Uncertain significance Single submitter
- TAOK2 p.Phe535Leu Uncertain significance Single submitter
- TAOK2 p.Phe639Ser Uncertain significance Single submitter
- TAOK2 p.Pro1013Ser Uncertain significance Single submitter
- TAOK2 p.Pro1054Arg Uncertain significance Single submitter
- TAOK2 p.Ser414Phe Uncertain significance Single submitter
- TAOK2 p.Thr271Ala Uncertain significance Single submitter
- TAOK2 p.Thr88Ile Uncertain significance Single submitter
- TAOK2 p.Trp1085Arg Uncertain significance Single submitter
- TAOK2 p.Tyr1003His Uncertain significance Single submitter
- TAOK2 p.Val475Leu Uncertain significance Single submitter
All TAOK2 variants
Pathogenic 1
- p.Tyr843Ter Single submitter TAOK2-associated neurodevelopmental disorder
Conflicting classifications of pathogenicity 9
- p.Arg1196Gln Single submitter ⚠
- p.Arg1224Cys Single submitter ⚠
- p.Arg1226Cys Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Arg746Cys Single submitter ⚠
- p.Asp259Glu Single submitter ⚠
- p.Gly1167Asp Single submitter ⚠
- p.Pro1207Leu Single submitter ⚠
- p.Thr808Ala Single submitter ⚠
Benign 26
- c.749+11A>G Multiple submitters
- p.Ala335= Multiple submitters
- p.Ala41= Multiple submitters
- p.Arg1211His Multiple submitters
- p.Arg92= Multiple submitters
- p.Asn377= Multiple submitters
- p.Leu524= Multiple submitters
- p.Pro441= Multiple submitters
- p.Pro778Ser Multiple submitters
- p.Ser453= Multiple submitters
- p.Ser493= Multiple submitters
- p.Thr869= Multiple submitters
- c.1788+22del Single submitter
- c.307-11C>T Single submitter
- c.832-3del Single submitter
- p.Ala7= Single submitter
- p.Arg1076Gln Single submitter
- p.Arg1229Trp Single submitter
- p.Arg150= Single submitter
- p.Pro1207= Single submitter
- p.Pro752Leu Single submitter
- p.Thr471= Single submitter
- p.Val208= Single submitter
- p.Val258= Single submitter
- p.Val959= Single submitter
- p.Val1036= No assertion criteria TAOK2-related disorder
Likely benign 364
Showing the top 300 by review status; the full set is in the sitemap.
- c.749+17C>T Multiple submitters
- p.Arg1211Cys Multiple submitters
- p.Arg517= Multiple submitters
- p.Arg84Gln Multiple submitters
- p.Asn322= Multiple submitters
- p.Leu492= Multiple submitters
- p.Thr100= Multiple submitters
- p.Val1129Ile Multiple submitters
- c.1000-13G>A Single submitter
- c.1000-14C>T Single submitter
- c.1000-4G>A Single submitter
- c.1000-4G>C Single submitter
- c.1000-5C>T Single submitter
- c.1260+14C>T Single submitter
- c.1260+16T>C Single submitter
- c.1260+7A>G Single submitter
- c.1260+9C>T Single submitter
- c.1261-10C>G Single submitter
- c.1261-12A>G Single submitter
- c.1261-4C>T Single submitter
- c.1261-6C>T Single submitter
- c.1261-8C>T Single submitter
- c.132+12C>G Single submitter
- c.133-18T>C Single submitter
- c.133-20C>T Single submitter
- c.133-7C>A Single submitter
- c.1422+15C>T Single submitter
- c.1422+7_1422+8del Single submitter
- c.1422+9A>G Single submitter
- c.1423-10C>T Single submitter
- c.1423-11T>C Single submitter
- c.1423-16C>G Single submitter
- c.1423-16CT[2] Single submitter
- c.1788+11G>A Single submitter
- c.1788+16T>C Single submitter
- c.1788+8A>C Single submitter
- c.1789-13T>C Single submitter
- c.1789-18C>T Single submitter
- c.1789-4C>T Single submitter
- c.1789-5C>T Single submitter
- c.1789-6G>A Single submitter
- c.1789-7C>T Single submitter
- c.1992+13A>G Single submitter
- c.1992+7A>C Single submitter
- c.1993-4T>A Single submitter
- c.204+13C>T Single submitter
- c.204+18C>T Single submitter
- c.204+8A>C Single submitter
- c.205-14C>T Single submitter
- c.205-15A>C Single submitter
- c.205-19G>C Single submitter
- c.205-6C>T Single submitter
- c.205-7C>G Single submitter
- c.307-13G>A Single submitter
- c.307-17C>T Single submitter
- c.307-5C>T Single submitter
- c.307-6C>T Single submitter
- c.307-9C>G Single submitter
- c.352+20A>G Single submitter
- c.353-10C>G Single submitter
- c.353-12C>T Single submitter
- c.353-13C>T Single submitter
- c.353-18T>G Single submitter
- c.353-5T>C Single submitter
- c.353-8C>T Single submitter
- c.449+14C>T Single submitter
- c.449+15G>A Single submitter
- c.450-15C>T Single submitter
- c.450-16A>C Single submitter
- c.450-18G>A Single submitter
- c.450-6T>C Single submitter
- c.450-7C>T Single submitter
- c.563+17T>C Single submitter
- c.563+1GTGA[2] Single submitter
- c.563+6dup Single submitter
- c.564-14G>T Single submitter
- c.564-16C>T Single submitter
- c.655+10T>A Single submitter
- c.655+15C>G Single submitter
- c.655+18G>C Single submitter
- c.655+19T>C Single submitter
- c.655+8C>T Single submitter
- c.656-13C>T Single submitter
- c.656-16T>C Single submitter
- c.656-17T>G Single submitter
- c.656-19C>G Single submitter
- c.656-20C>T Single submitter
- c.656-6C>G Single submitter
- c.749+18G>C Single submitter
- c.749+8C>T Single submitter
- c.749+9T>C Single submitter
- c.750-10_750-9del Single submitter
- c.750-10T>C Single submitter
- c.750-13C>T Single submitter
- c.750-16C>A Single submitter
- c.750-4dup Single submitter
- c.750-6T>C Single submitter
- c.831+11G>C Single submitter
- c.831+18T>C Single submitter
- c.831+20G>C Single submitter
- c.831+8C>T Single submitter
- c.832-12C>T Single submitter
- c.832-15G>A Single submitter
- c.832-19C>G Single submitter
- c.832-19C>T Single submitter
- c.832-4C>G Single submitter
- c.999+9G>A Single submitter
- p.Ala1028= Single submitter
- p.Ala1057= Single submitter
- p.Ala1062= Single submitter
- p.Ala1065= Single submitter
- p.Ala1105= Single submitter
- p.Ala1162= Single submitter
- p.Ala1219= Single submitter
- p.Ala135= Single submitter
- p.Ala173= Single submitter
- p.Ala196= Single submitter
- p.Ala230= Single submitter
- p.Ala233= Single submitter
- p.Ala300= Single submitter
- p.Ala326= Single submitter
- p.Ala335Val Single submitter
- p.Ala342= Single submitter
- p.Ala372= Single submitter
- p.Ala443= Single submitter
- p.Ala458= Single submitter
- p.Ala472= Single submitter
- p.Ala487= Single submitter
- p.Ala522= Single submitter
- p.Ala530= Single submitter
- p.Ala557= Single submitter
- p.Ala559= Single submitter
- p.Ala610= Single submitter
- p.Ala625= Single submitter
- p.Ala625Val Single submitter ⚠
- p.Ala678= Single submitter
- p.Ala697= Single submitter
- p.Ala823Thr Single submitter
- p.Ala894= Single submitter
- p.Ala953= Single submitter
- p.Ala958= Single submitter
- p.Ala979= Single submitter
- p.Ala987= Single submitter
- p.Ala988= Single submitter
- p.Ala991= Single submitter
- p.Arg1091= Single submitter
- p.Arg1098= Single submitter
- p.Arg1134= Single submitter
- p.Arg1163Gln Single submitter
- p.Arg1187= Single submitter
- p.Arg1190= Single submitter
- p.Arg1196= Single submitter
- p.Arg1226His Single submitter
- p.Arg1229= Single submitter
- p.Arg285= Single submitter
- p.Arg341= Single submitter
- p.Arg397= Single submitter
- p.Arg455= Single submitter
- p.Arg49= Single submitter
- p.Arg512= Single submitter
- p.Arg526= Single submitter
- p.Arg555= Single submitter
- p.Arg615= Single submitter
- p.Arg78= Single submitter
- p.Arg787= Single submitter
- p.Arg799= Single submitter
- p.Arg850= Single submitter
- p.Asn240= Single submitter
- p.Asp207= Single submitter
- p.Asp485= Single submitter
- p.Cys108= Single submitter
- p.Cys1154= Single submitter
- p.Cys938= Single submitter
- p.Gln1072= Single submitter
- p.Gln1202= Single submitter
- p.Gln1227= Single submitter
- p.Gln137= Single submitter
- p.Gln503= Single submitter
- p.Gln616= Single submitter
- p.Gln621= Single submitter
- p.Gln642= Single submitter
- p.Gln813Arg Single submitter
- p.Glu1189= Single submitter
- p.Glu273= Single submitter
- p.Glu380= Single submitter
- p.Glu381= Single submitter
- p.Glu390_Glu392dup Single submitter
- p.Glu391= Single submitter
- p.Glu404= Single submitter
- p.Glu597= Single submitter
- p.Glu719= Single submitter
- p.Glu781= Single submitter
- p.Glu792= Single submitter
- p.Glu798= Single submitter
- p.Glu847= Single submitter
- p.Glu858= Single submitter
- p.Glu900= Single submitter
- p.Glu903= Single submitter
- p.Gly1023= Single submitter
- p.Gly1027= Single submitter
- p.Gly1080Arg Single submitter
- p.Gly110= Single submitter
- p.Gly1184Ser Single submitter
- p.Gly1220= Single submitter
- p.Gly168= Single submitter
- p.Gly184= Single submitter
- p.Gly200= Single submitter
- p.Gly753= Single submitter
- p.Gly760= Single submitter
- p.Gly768= Single submitter
- p.Gly790= Single submitter
- p.Gly806= Single submitter
- p.Gly888= Single submitter
- p.Gly908= Single submitter
- p.Gly920= Single submitter
- p.Gly964= Single submitter
- p.Gly995= Single submitter
- p.His1171= Single submitter
- p.His1171Arg Single submitter
- p.His1178= Single submitter
- p.His133= Single submitter
- p.His278= Single submitter
- p.His407= Single submitter
- p.His412= Single submitter
- p.His465= Single submitter
- p.His567= Single submitter
- p.His684= Single submitter
- p.His831= Single submitter
- p.Ile128= Single submitter
- p.Ile157= Single submitter
- p.Ile194= Single submitter
- p.Ile216= Single submitter
- p.Ile469= Single submitter
- p.Leu10= Single submitter
- p.Leu1004= Single submitter
- p.Leu1006= Single submitter
- p.Leu1010= Single submitter
- p.Leu1026= Single submitter
- p.Leu1043= Single submitter
- p.Leu1050= Single submitter
- p.Leu1084= Single submitter
- p.Leu1086= Single submitter
- p.Leu1090= Single submitter
- p.Leu1114= Single submitter
- p.Leu1127= Single submitter
- p.Leu1153= Single submitter
- p.Leu1214= Single submitter
- p.Leu159= Single submitter
- p.Leu167= Single submitter
- p.Leu348= Single submitter
- p.Leu439= Single submitter
- p.Leu506= Single submitter
- p.Leu507= Single submitter
- p.Leu513= Single submitter
- p.Leu580= Single submitter
- p.Leu598= Single submitter
- p.Leu632= Single submitter
- p.Leu652= Single submitter
- p.Leu666= Single submitter
- p.Leu680= Single submitter
- p.Leu708= Single submitter
- p.Leu809= Single submitter
- p.Leu880= Single submitter
- p.Leu943= Single submitter
- p.Leu947= Single submitter
- p.Leu952= Single submitter
- p.Leu965= Single submitter
- p.Leu966= Single submitter
- p.Leu968= Single submitter
- p.Leu969= Single submitter
- p.Leu971= Single submitter
- p.Leu973= Single submitter
- p.Leu976= Single submitter
- p.Leu985= Single submitter
- p.Leu990= Single submitter
- p.Leu992= Single submitter
- p.Leu996= Single submitter
- p.Lys26= Single submitter
- p.Lys574= Single submitter
- p.Lys591= Single submitter
- p.Lys649= Single submitter
- p.Lys69= Single submitter
- p.Lys741= Single submitter
- p.Phe182= Single submitter
- p.Phe317= Single submitter
- p.Pro1042= Single submitter
- p.Pro1128= Single submitter
- p.Pro1130= Single submitter
- p.Pro1143= Single submitter
- p.Pro1174= Single submitter
- p.Pro1232= Single submitter
- p.Pro1233= Single submitter
- p.Pro178= Single submitter
- p.Pro191= Single submitter
- p.Pro224= Single submitter
- p.Pro243= Single submitter
- p.Pro270= Single submitter
- p.Pro394= Single submitter
- p.Pro436= Single submitter
- p.Pro438= Single submitter
Uncertain significance 536
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1057Val Multiple submitters ⚠
- p.Ala1062Val Multiple submitters ⚠
- p.Ala1148Thr Multiple submitters ⚠
- p.Ala444Val Multiple submitters ⚠
- p.Ala733Val Multiple submitters ⚠
- p.Ala747Val Multiple submitters ⚠
- p.Ala761Val Multiple submitters ⚠
- p.Ala988Val Multiple submitters ⚠
- p.Arg1071Gln Multiple submitters ⚠
- p.Arg1071Trp Multiple submitters ⚠
- p.Arg1076Leu Multiple submitters ⚠
- p.Arg1078Cys Multiple submitters ⚠
- p.Arg1083Gln Multiple submitters ⚠
- p.Arg1098Gln Multiple submitters ⚠
- p.Arg1126His Multiple submitters ⚠
- p.Arg1133Gln Multiple submitters ⚠
- p.Arg1134Gln Multiple submitters ⚠
- p.Arg1135His Multiple submitters ⚠
- p.Arg1138Cys Multiple submitters ⚠
- p.Arg1190Trp Multiple submitters ⚠
- p.Arg1196Trp Multiple submitters ⚠
- p.Arg1221Gln Multiple submitters ⚠
- p.Arg1226Pro Multiple submitters ⚠
- p.Arg279His Multiple submitters ⚠
- p.Arg341Trp Multiple submitters ⚠
- p.Arg418Trp Multiple submitters
- p.Arg456His Multiple submitters ⚠
- p.Arg512Gln Multiple submitters ⚠
- p.Arg532Gln Multiple submitters ⚠
- p.Arg532Trp Multiple submitters ⚠
- p.Arg634Gln Multiple submitters ⚠
- p.Arg636His Multiple submitters ⚠
- p.Arg644Cys Multiple submitters ⚠
- p.Arg648Cys Multiple submitters ⚠
- p.Arg654Trp Multiple submitters
- p.Arg663Gln Multiple submitters ⚠
- p.Arg693Gln Multiple submitters ⚠
- p.Arg723Gln Multiple submitters ⚠
- p.Asn180Ser Multiple submitters
- p.Asn67Ser Multiple submitters ⚠
- p.Asp660Val Multiple submitters ⚠
- p.Asp836Asn Multiple submitters ⚠
- p.Cys938fs Multiple submitters TAOK2-associated neurodevelopmental disorder
- p.Gln1072Glu Multiple submitters ⚠
- p.Gln1101Arg Multiple submitters ⚠
- p.Gln431Glu Multiple submitters ⚠
- p.Gln637Leu Multiple submitters ⚠
- p.Gln659Glu Multiple submitters ⚠
- p.Glu389Asp Multiple submitters ⚠
- p.Glu560Lys Multiple submitters ⚠
- p.Gly1023Ser Multiple submitters ⚠
- p.Gly1110Ser Multiple submitters TAOK2-related disorder ⚠
- p.Gly1220Arg Multiple submitters ⚠
- p.Gly8Arg Multiple submitters ⚠
- p.Ile1081Met Multiple submitters ⚠
- p.Ile359Val Multiple submitters ⚠
- p.Ile911Thr Multiple submitters ⚠
- p.Leu1026Val Multiple submitters ⚠
- p.Leu631Val Multiple submitters ⚠
- p.Leu834Met Multiple submitters ⚠
- p.Leu849Pro Multiple submitters ⚠
- p.Leu854Arg Multiple submitters ⚠
- p.Leu951Ile Multiple submitters ⚠
- p.Met401Val Multiple submitters ⚠
- p.Met402Leu Multiple submitters ⚠
- p.Phe1017Leu Multiple submitters ⚠
- p.Pro1233Leu Multiple submitters ⚠
- p.Pro324Leu Multiple submitters ⚠
- p.Pro429Ser Multiple submitters ⚠
- p.Pro775Leu Multiple submitters ⚠
- p.Pro852Leu Multiple submitters ⚠
- p.Pro937Leu Multiple submitters ⚠
- p.Pro939Leu Multiple submitters ⚠
- p.Thr1024Ala Multiple submitters ⚠
- p.Thr1139Ile Multiple submitters ⚠
- p.Thr808Pro Multiple submitters ⚠
- p.Trp870Cys Multiple submitters
- p.Trp889Ser Multiple submitters ⚠
- p.Val208Ile Multiple submitters ⚠
- p.Val354Leu Multiple submitters ⚠
- p.Val368Ile Multiple submitters ⚠
- p.Val698Met Multiple submitters ⚠
- c.1000-2A>G Single submitter
- c.1260+4C>G Single submitter
- c.1261-3T>C Single submitter
- c.1422+6T>C Single submitter
- c.1992+2T>C Single submitter
- c.1992+4G>A Single submitter
- c.1992+5G>A Single submitter
- c.1992+6C>T Single submitter
- c.1993-17_1993-16inv Single submitter
- c.1993-91_1993-9del Single submitter
- c.449+4C>A Single submitter
- c.449+6A>G Single submitter
- c.563+11G>A Single submitter
- c.563+7G>A Single submitter
- c.831+3G>A Single submitter
- c.832-268T>C Single submitter TAOK2-related disorder
- c.999+6C>A Single submitter
- p.Ala1009Thr Single submitter ⚠
- p.Ala1021Thr Single submitter ⚠
- p.Ala1025Val Single submitter
- p.Ala1028Ser Single submitter ⚠
- p.Ala1047Asp Single submitter ⚠
- p.Ala1048Pro Single submitter ⚠
- p.Ala1048Ser Single submitter ⚠
- p.Ala1065Val Single submitter ⚠
- p.Ala1164Thr Single submitter ⚠
- p.Ala1230Ser Single submitter ⚠
- p.Ala129Thr Single submitter ⚠
- p.Ala173Val Single submitter ⚠
- p.Ala190Ser Single submitter ⚠
- p.Ala230Val Single submitter ⚠
- p.Ala320Pro Single submitter ⚠
- p.Ala361Ser Single submitter ⚠
- p.Ala374Val Single submitter ⚠
- p.Ala454fs Single submitter
- p.Ala454Thr Single submitter ⚠
- p.Ala458Val Single submitter ⚠
- p.Ala487Glu Single submitter ⚠
- p.Ala508Gly Single submitter ⚠
- p.Ala522Thr Single submitter ⚠
- p.Ala522Val Single submitter ⚠
- p.Ala539Ser Single submitter ⚠
- p.Ala539Val Single submitter ⚠
- p.Ala548Gly Single submitter ⚠
- p.Ala554Thr Single submitter ⚠
- p.Ala625Pro Single submitter ⚠
- p.Ala703Val Single submitter ⚠
- p.Ala734Ser Single submitter ⚠
- p.Ala795Gly Single submitter ⚠
- p.Ala940Gly Single submitter ⚠
- p.Ala978Val Single submitter ⚠
- p.Arg1035Cys Single submitter ⚠
- p.Arg1035His Single submitter ⚠
- p.Arg1036Gln Single submitter ⚠
- p.Arg1036Ter Single submitter
- p.Arg1068fs Single submitter
- p.Arg1068Ter Single submitter
- p.Arg1076Trp Single submitter ⚠
- p.Arg1078His Single submitter ⚠
- p.Arg1079Gln Single submitter ⚠
- p.Arg1087Pro Single submitter
- p.Arg1087Trp Single submitter ⚠
- p.Arg1091Cys Single submitter ⚠
- p.Arg1098Trp Single submitter ⚠
- p.Arg1109Trp Single submitter ⚠
- p.Arg1124Cys Single submitter ⚠
- p.Arg1126Cys Single submitter ⚠
- p.Arg1133Trp Single submitter ⚠
- p.Arg1135Cys Single submitter ⚠
- p.Arg1135Pro Single submitter ⚠
- p.Arg1149Ser Single submitter ⚠
- p.Arg1160His Single submitter ⚠
- p.Arg1187Gln Single submitter ⚠
- p.Arg1187Leu Single submitter ⚠
- p.Arg1190Gln Single submitter ⚠
- p.Arg1193Gln Single submitter ⚠
- p.Arg1193Ter Single submitter
- p.Arg1200Gly Single submitter ⚠
- p.Arg1200His Single submitter ⚠
- p.Arg1224His Single submitter ⚠
- p.Arg1224Pro Single submitter ⚠
- p.Arg1226Ser Single submitter ⚠
- p.Arg150Gly Single submitter ⚠
- p.Arg221Gln Single submitter ⚠
- p.Arg221Trp Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg285Gln Single submitter neurodevelopmental disorder ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg32Trp Single submitter ⚠
- p.Arg397Gln Single submitter ⚠
- p.Arg397Trp Single submitter ⚠
- p.Arg418Gln Single submitter ⚠
- p.Arg418Leu Single submitter ⚠
- p.Arg455Cys Single submitter
- p.Arg455His Single submitter ⚠
- p.Arg456Cys Single submitter
- p.Arg457_Ala458insArg Single submitter
- p.Arg457Gln Single submitter ⚠
- p.Arg457Trp Single submitter
- p.Arg461Cys Single submitter ⚠
- p.Arg461His Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Arg463Pro Single submitter ⚠
- p.Arg477His Single submitter ⚠
- p.Arg497Gln Single submitter ⚠
- p.Arg514Lys Single submitter ⚠
- p.Arg517Gln Single submitter ⚠
- p.Arg523Trp Single submitter ⚠
- p.Arg526Gln Single submitter ⚠
- p.Arg526Trp Single submitter ⚠
- p.Arg544Gln Single submitter ⚠
- p.Arg544Trp Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg545Trp Single submitter ⚠
- p.Arg555Gln Single submitter ⚠
- p.Arg562Trp Single submitter ⚠
- p.Arg590Cys Single submitter
- p.Arg590His Single submitter ⚠
- p.Arg590Leu Single submitter ⚠
- p.Arg607Gln Single submitter ⚠
- p.Arg607Trp Single submitter ⚠
- p.Arg615Gln Single submitter ⚠
- p.Arg615Trp Single submitter ⚠
- p.Arg633Gln Single submitter ⚠
- p.Arg633Trp Single submitter
- p.Arg644His Single submitter ⚠
- p.Arg654Gln Single submitter ⚠
- p.Arg663Trp Single submitter ⚠
- p.Arg682Gln Single submitter
- p.Arg682Trp Single submitter ⚠
- p.Arg688Trp Single submitter ⚠
- p.Arg693Trp Single submitter
- p.Arg6Gln Single submitter ⚠
- p.Arg6Pro Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Arg700Cys Single submitter ⚠
- p.Arg700His Single submitter ⚠
- p.Arg707His Single submitter ⚠
- p.Arg707Leu Single submitter ⚠
- p.Arg723Trp Single submitter ⚠
- p.Arg724Cys Single submitter
- p.Arg724His Single submitter
- p.Arg724Leu Single submitter ⚠
- p.Arg729Gln Single submitter ⚠
- p.Arg746His Single submitter ⚠
- p.Arg750Cys Single submitter ⚠
- p.Arg750His Single submitter ⚠
- p.Arg787Gln Single submitter
- p.Arg787Gly Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Arg78Leu Single submitter ⚠
- p.Arg799Lys Single submitter ⚠
- p.Arg800del Single submitter
- p.Arg870Trp Single submitter
- p.Arg92Gln Single submitter ⚠
- p.Arg92Trp Single submitter ⚠
- p.Arg97Trp Single submitter ⚠
- p.Arg992Cys Single submitter
- p.Asn156Ser Single submitter ⚠
- p.Asn180Thr Single submitter ⚠
- p.Asn369Ser Single submitter ⚠
- p.Asn601Lys Single submitter ⚠
- p.Asn667Lys Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp203Asn Single submitter ⚠
- p.Asp259Asn Single submitter ⚠
- p.Asp292Glu Single submitter ⚠
- p.Asp299Asn Single submitter
- p.Asp376fs Single submitter
- p.Asp428Gly Single submitter ⚠
- p.Asp47Asn Single submitter ⚠
- p.Asp658Glu Single submitter ⚠
- p.Asp665Gly Single submitter ⚠
- p.Asp919Val Single submitter
- p.Asp925Asn Single submitter ⚠
- p.Cys1007Arg Single submitter ⚠
- p.Cys1007Phe Single submitter ⚠
- p.Cys1103Arg Single submitter ⚠
- p.Cys623Arg Single submitter ⚠
- p.Cys776Ser Single submitter ⚠
- p.Cys938Tyr Single submitter ⚠
- p.Gln1022Arg Single submitter ⚠
- p.Gln1101fs Single submitter
- p.Gln267Pro Single submitter ⚠
- p.Gln484His Single submitter ⚠
- p.Gln531Arg Single submitter ⚠
- p.Gln709Ter Single submitter
- p.Gln726Glu Single submitter ⚠
- p.Gln730_Lys731insGluGlnGluLeuArgGln Single submitter
- p.Gln780Arg Single submitter ⚠
- p.Gln814His Single submitter ⚠
- p.Gln942Lys Single submitter ⚠
- p.Gln986Pro Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu127Gly Single submitter ⚠
- p.Glu192Lys Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Glu327Lys Single submitter ⚠
- p.Glu332Lys Single submitter
- p.Glu333Gly Single submitter ⚠
- p.Glu333Lys Single submitter
- p.Glu336Lys Single submitter
- p.Glu383Lys Single submitter ⚠
- p.Glu387_Glu392dup Single submitter
- p.Glu388_Glu392del Single submitter
- p.Glu388_Glu392dup Single submitter
- p.Glu389_Glu392del Single submitter
- p.Glu391_Glu392del Single submitter
- p.Glu392_Gly393insGlu Single submitter
- p.Glu392_Gly393insGluGlu Single submitter
- p.Glu392_Gly393insGluGluGlu Single submitter
- p.Glu392_Gly393insGluGluGluGlu Single submitter
- p.Glu392_Gly393insGluGluGluGluGluGluGlu Single submitter
- p.Glu392del Single submitter
- p.Glu392dup Single submitter
- p.Glu395Lys Single submitter ⚠
- p.Glu404Asp Single submitter ⚠