SIK3 — 179 ClinVar variants
All ClinVar germline SIK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 8 Benign · 3 Benign/Likely benign · 32 Likely benign · 134 Uncertain significance
Full SIK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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 lean, ClinVar uncertain 97
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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SIK3 p.Pro799Ala
Uncertain significance
Multiple submitters
SIK3-related disorder
- SIK3 p.Ala1075Val Uncertain significance Single submitter
- SIK3 p.Ala1079Val Uncertain significance Single submitter
- SIK3 p.Ala1272Thr Uncertain significance Single submitter
- SIK3 p.Ala1272Val Uncertain significance Single submitter
- SIK3 p.Ala405Thr Uncertain significance Single submitter
- SIK3 p.Ala414Val Uncertain significance Single submitter
- SIK3 p.Ala678Val Uncertain significance Single submitter
- SIK3 p.Ala811Thr Uncertain significance Single submitter
- SIK3 p.Ala887Asp Uncertain significance Single submitter
- SIK3 p.Ala931Val Uncertain significance Single submitter
- SIK3 p.Arg1034Trp Uncertain significance Single submitter
- SIK3 p.Arg1051Trp Uncertain significance Single submitter
- SIK3 p.Arg1248Cys Uncertain significance Single submitter
- SIK3 p.Arg1248His Uncertain significance Single submitter
- SIK3 p.Arg1258Gln Uncertain significance Single submitter
- SIK3 p.Arg167Gln Uncertain significance Single submitter
- SIK3 p.Arg393His Uncertain significance Single submitter
- SIK3 p.Arg402Pro Uncertain significance Single submitter
- SIK3 p.Arg62Pro Uncertain significance Single submitter
- SIK3 p.Arg672Trp Uncertain significance Single submitter
- SIK3 p.Arg879Cys Uncertain significance Single submitter
- SIK3 p.Arg895His Uncertain significance Single submitter
- SIK3 p.Arg948Trp Uncertain significance Single submitter
- SIK3 p.Asn1268Ser Uncertain significance Single submitter
- SIK3 p.Asn325Tyr Uncertain significance Single submitter
- SIK3 p.Asp1032Asn Uncertain significance Single submitter
- SIK3 p.Asp1099Asn Uncertain significance Single submitter
- SIK3 p.Asp1270Asn Uncertain significance Single submitter
- SIK3 p.Asp373Asn Uncertain significance Single submitter
- SIK3 p.Gln217Lys Uncertain significance Single submitter
- SIK3 p.Gln416Arg Uncertain significance Single submitter
- SIK3 p.Gln427His Uncertain significance Single submitter
- SIK3 p.Gln740His Uncertain significance Single submitter
- SIK3 p.Gln792Lys Uncertain significance Single submitter
- SIK3 p.Glu1089Ala Uncertain significance Single submitter
- SIK3 p.Gly1029Ser Uncertain significance Single submitter
- SIK3 p.Gly1130Arg Uncertain significance Single submitter
- SIK3 p.Gly1179Ser Uncertain significance Single submitter
- SIK3 p.Gly1182Glu Uncertain significance Single submitter
- SIK3 p.Gly1232Ala Uncertain significance Single submitter
- SIK3 p.Gly1307Val Uncertain significance Single submitter
- SIK3 p.Gly418Asp Uncertain significance Single submitter
- SIK3 p.Gly522Arg Uncertain significance Single submitter
- SIK3 p.Gly880Ser Uncertain significance Single submitter
- SIK3 p.Gly949Ser Uncertain significance Single submitter
- SIK3 p.His1133Leu Uncertain significance Single submitter
- SIK3 p.His1204Gln Uncertain significance Single submitter
- SIK3 p.His1254Gln Uncertain significance Single submitter
- SIK3 p.His153Arg Uncertain significance Single submitter
- SIK3 p.His389Arg Uncertain significance Single submitter
- SIK3 p.His894Tyr Uncertain significance Single submitter
- SIK3 p.Ile881Thr Uncertain significance Single submitter
- SIK3 p.Leu1021Ile Uncertain significance Single submitter
- SIK3 p.Leu1078Pro Uncertain significance Single submitter
- SIK3 p.Leu394Phe Uncertain significance Single submitter
- SIK3 p.Leu444Met Uncertain significance Single submitter
- SIK3 p.Leu483Met Uncertain significance Single submitter
-
SIK3 p.Leu738Ile
Uncertain significance
Single submitter
SIK3-related disorder
- SIK3 p.Leu841Val Uncertain significance Single submitter
- SIK3 p.Lys108Arg Uncertain significance Single submitter
- SIK3 p.Met1306Leu Uncertain significance Single submitter
- SIK3 p.Met421Arg Uncertain significance Single submitter
- SIK3 p.Met480Thr Uncertain significance Single submitter
- SIK3 p.Met577Val Uncertain significance Single submitter
- SIK3 p.Met800Val Uncertain significance Single submitter
- SIK3 p.Met869Ile Uncertain significance Single submitter
- SIK3 p.Pro1135Leu Uncertain significance Single submitter
- SIK3 p.Pro1231Leu Uncertain significance Single submitter
- SIK3 p.Pro440Leu Uncertain significance Single submitter
- SIK3 p.Pro799Arg Uncertain significance Single submitter
- SIK3 p.Pro799Thr Uncertain significance Single submitter
- SIK3 p.Pro971Ser Uncertain significance Single submitter
- SIK3 p.Pro987Leu Uncertain significance Single submitter
- SIK3 p.Ser1031Leu Uncertain significance Single submitter
- SIK3 p.Ser1120Leu Uncertain significance Single submitter
- SIK3 p.Ser1172Asn Uncertain significance Single submitter
- SIK3 p.Ser1217Asn Uncertain significance Single submitter
- SIK3 p.Ser1217Gly Uncertain significance Single submitter
- SIK3 p.Ser1296Leu Uncertain significance Single submitter
- SIK3 p.Ser1304Leu Uncertain significance Single submitter
- SIK3 p.Ser657Pro Uncertain significance Single submitter
- SIK3 p.Ser852Leu Uncertain significance Single submitter
- SIK3 p.Thr1003Met Uncertain significance Single submitter
- SIK3 p.Thr1028Ala Uncertain significance Single submitter
- SIK3 p.Thr1038Ser Uncertain significance Single submitter
- SIK3 p.Thr664Met Uncertain significance Single submitter
- SIK3 p.Thr896Asn Uncertain significance Single submitter
- SIK3 p.Thr958Ala Uncertain significance Single submitter
- SIK3 p.Thr958Ile Uncertain significance Single submitter
- SIK3 p.Tyr375Cys Uncertain significance Single submitter
- SIK3 p.Tyr933Cys Uncertain significance Single submitter
- SIK3 p.Val173Ile Uncertain significance Single submitter
- SIK3 p.Val425Ile Uncertain significance Single submitter
- SIK3 p.Val506Ala Uncertain significance Single submitter
- SIK3 p.Val970Ile Uncertain significance Single submitter
- SIK3 p.Ser993Leu Uncertain significance No assertion criteria
Predictors split 23
The independent predictors disagree with each other — read with care.
- SIK3 p.Ala90Val Uncertain significance Single submitter
- SIK3 p.Arg1294Trp Uncertain significance Single submitter
- SIK3 p.Arg385Leu Uncertain significance Single submitter
- SIK3 p.Arg567Cys Uncertain significance Single submitter
- SIK3 p.Arg569Trp Uncertain significance Single submitter
- SIK3 p.Asp656Glu Uncertain significance Single submitter
- SIK3 p.Asp916Glu Uncertain significance Single submitter
- SIK3 p.Glu434Gly Uncertain significance Single submitter
- SIK3 p.Glu665Asp Uncertain significance Single submitter
- SIK3 p.Gly594Arg Uncertain significance Single submitter
- SIK3 p.His906Asp Uncertain significance Single submitter
- SIK3 p.Leu1066Pro Uncertain significance Single submitter
- SIK3 p.Leu1111Pro Uncertain significance Single submitter
- SIK3 p.Leu1300Pro Uncertain significance Single submitter
- SIK3 p.Leu1352Arg Uncertain significance Single submitter
- SIK3 p.Leu1352Pro Uncertain significance Single submitter
- SIK3 p.Lys108Asn Uncertain significance Single submitter
- SIK3 p.Pro545Leu Uncertain significance Single submitter
- SIK3 p.Pro782His Uncertain significance Single submitter
- SIK3 p.Thr1265Met Uncertain significance Single submitter
- SIK3 p.Thr767Ile Uncertain significance Single submitter
- SIK3 p.Tyr372Cys Uncertain significance Single submitter
- SIK3 p.Val1369Met Uncertain significance Single submitter
All SIK3 variants
Pathogenic 1
- p.Arg187Cys No assertion criteria spondyloepimetaphyseal dysplasia, Krakow type
Likely pathogenic 1
- p.Met317Arg Single submitter spondyloepimetaphyseal dysplasia, Krakow type
Benign 8
- c.1582-37A>G Multiple submitters spondyloepimetaphyseal dysplasia, Krakow type
- c.1953-11C>T Multiple submitters spondyloepimetaphyseal dysplasia, Krakow type
- c.2315+45C>A Multiple submitters spondyloepimetaphyseal dysplasia, Krakow type
- p.Pro1184Arg Multiple submitters spondyloepimetaphyseal dysplasia, Krakow type
- p.Pro1238= Single submitter
- p.Asp1146Glu No assertion criteria SIK3-related disorder
- p.Gln1056= No assertion criteria SIK3-related disorder
- p.Leu995= No assertion criteria SIK3-related disorder
Benign/Likely benign 3
- c.273+9G>T Multiple submitters
- p.Ala1098Thr Multiple submitters spondyloepimetaphyseal dysplasia, Krakow type
- p.Arg1090Cys Multiple submitters
Likely benign 32
- p.Ile1033= Multiple submitters
- p.Leu518= Multiple submitters
- p.Tyr1007Cys Multiple submitters
- c.1239+7A>G Single submitter
- c.1952+20G>A Single submitter
- c.865+9G>A Single submitter
- p.Ala13= Single submitter
- p.Arg1090His Single submitter
- p.Arg548= Single submitter
- p.Asn693Ser Single submitter
- p.Asp593= Single submitter
- p.Gln750= Single submitter
- p.Glu1144= Single submitter
- p.Glu1315= Single submitter
- p.Glu347Lys Single submitter
- p.Gly1198= Single submitter
- p.Gly19Glu Single submitter
- p.Gly547= Single submitter
- p.Ile1113= Single submitter
- p.Ile825Val Single submitter
- p.Phe1362= Single submitter
- p.Ser993= Single submitter
- p.Thr1207Ala Single submitter
- p.Thr521= Single submitter
- p.Val506Met Single submitter
- p.Val80= Single submitter
- p.Val839Met Single submitter
- p.Arg274= No assertion criteria SIK3-related disorder
- p.Leu1284= No assertion criteria SIK3-related disorder
- p.Ser1341= No assertion criteria SIK3-related disorder
- p.Ser42= No assertion criteria SIK3-related disorder
- p.Thr1178= No assertion criteria SIK3-related disorder
Uncertain significance 134
- p.Pro1004Leu Multiple submitters
- p.Pro799Ala Multiple submitters SIK3-related disorder ⚠
- p.Ala1075Val Single submitter ⚠
- p.Ala1079Val Single submitter ⚠
- p.Ala1272Thr Single submitter ⚠
- p.Ala1272Val Single submitter ⚠
- p.Ala405Thr Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Ala678Val Single submitter ⚠
- p.Ala811Thr Single submitter ⚠
- p.Ala887Asp Single submitter ⚠
- p.Ala90Val Single submitter ⚠
- p.Ala931Val Single submitter ⚠
- p.Arg1034Trp Single submitter ⚠
- p.Arg1051Trp Single submitter ⚠
- p.Arg1248Cys Single submitter ⚠
- p.Arg1248His Single submitter ⚠
- p.Arg1258Gln Single submitter ⚠
- p.Arg1258Trp Single submitter
- p.Arg1294Trp Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Arg167Trp Single submitter
- p.Arg385Leu Single submitter ⚠
- p.Arg393His Single submitter ⚠
- p.Arg402Pro Single submitter ⚠
- p.Arg567Cys Single submitter ⚠
- p.Arg567His Single submitter
- p.Arg569Gln Single submitter
- p.Arg569Trp Single submitter ⚠
- p.Arg62Pro Single submitter ⚠
- p.Arg672Trp Single submitter ⚠
- p.Arg879Cys Single submitter ⚠
- p.Arg895His Single submitter ⚠
- p.Arg948Trp Single submitter ⚠
- p.Asn1268Ser Single submitter ⚠
- p.Asn325Tyr Single submitter ⚠
- p.Asp1032Asn Single submitter ⚠
- p.Asp1099Asn Single submitter ⚠
- p.Asp1270Asn Single submitter ⚠
- p.Asp373Asn Single submitter ⚠
- p.Asp656Glu Single submitter ⚠
- p.Asp916Glu Single submitter ⚠
- p.Cys312Gly Single submitter
- p.Gln217Lys Single submitter ⚠
- p.Gln416Arg Single submitter ⚠
- p.Gln427His Single submitter ⚠
- p.Gln740His Single submitter ⚠
- p.Gln792Lys Single submitter ⚠
- p.Gln986del Single submitter
- p.Glu1089Ala Single submitter ⚠
- p.Glu1141Gly Single submitter
- p.Glu1359Lys Single submitter
- p.Glu434Gly Single submitter ⚠
- p.Glu665Asp Single submitter ⚠
- p.Gly1029Ser Single submitter ⚠
- p.Gly1130Arg Single submitter ⚠
- p.Gly1179Ser Single submitter ⚠
- p.Gly1182Glu Single submitter ⚠
- p.Gly1232Ala Single submitter ⚠
- p.Gly1307Val Single submitter ⚠
- p.Gly418Asp Single submitter ⚠
- p.Gly522Arg Single submitter ⚠
- p.Gly594Arg Single submitter ⚠
- p.Gly711Arg Single submitter
- p.Gly880Ser Single submitter ⚠
- p.Gly949Ser Single submitter ⚠
- p.His1133Leu Single submitter ⚠
- p.His1204Gln Single submitter ⚠
- p.His1254Gln Single submitter ⚠
- p.His153Arg Single submitter ⚠
- p.His374Asn Single submitter
- p.His389Arg Single submitter ⚠
- p.His894Tyr Single submitter ⚠
- p.His906Asp Single submitter ⚠
- p.Ile881Thr Single submitter ⚠
- p.Leu1021Ile Single submitter ⚠
- p.Leu1066Pro Single submitter ⚠
- p.Leu1078Pro Single submitter ⚠
- p.Leu1111Pro Single submitter ⚠
- p.Leu1300Pro Single submitter ⚠
- p.Leu1352Arg Single submitter ⚠
- p.Leu1352Pro Single submitter ⚠
- p.Leu1353Phe Single submitter
- p.Leu394Phe Single submitter ⚠
- p.Leu444Met Single submitter ⚠
- p.Leu483Met Single submitter ⚠
- p.Leu738Ile Single submitter SIK3-related disorder ⚠
- p.Leu841Val Single submitter ⚠
- p.Lys108Arg Single submitter ⚠
- p.Lys108Asn Single submitter ⚠
- p.Met1306Leu Single submitter ⚠
- p.Met421Arg Single submitter ⚠
- p.Met480Thr Single submitter ⚠
- p.Met577Val Single submitter ⚠
- p.Met800Val Single submitter ⚠
- p.Met869Ile Single submitter ⚠
- p.Pro1004Gln Single submitter
- p.Pro1135Leu Single submitter ⚠
- p.Pro1231Leu Single submitter ⚠
- p.Pro440Leu Single submitter ⚠
- p.Pro545Leu Single submitter ⚠
- p.Pro782His Single submitter ⚠
- p.Pro799Arg Single submitter ⚠
- p.Pro799Thr Single submitter ⚠
- p.Pro971Ser Single submitter ⚠
- p.Pro987Leu Single submitter ⚠
- p.Ser1031Leu Single submitter ⚠
- p.Ser1120Leu Single submitter ⚠
- p.Ser1172Asn Single submitter ⚠
- p.Ser1217Asn Single submitter ⚠
- p.Ser1217Gly Single submitter ⚠
- p.Ser1283Thr Single submitter
- p.Ser1296Leu Single submitter ⚠
- p.Ser1304Leu Single submitter ⚠
- p.Ser657Pro Single submitter ⚠
- p.Ser852Leu Single submitter ⚠
- p.Thr1003Met Single submitter ⚠
- p.Thr1028Ala Single submitter ⚠
- p.Thr1038Ser Single submitter ⚠
- p.Thr1265Met Single submitter ⚠
- p.Thr664Met Single submitter ⚠
- p.Thr767Ile Single submitter ⚠
- p.Thr896Asn Single submitter ⚠
- p.Thr958Ala Single submitter ⚠
- p.Thr958Ile Single submitter ⚠
- p.Tyr372Cys Single submitter ⚠
- p.Tyr375Cys Single submitter ⚠
- p.Tyr933Cys Single submitter ⚠
- p.Val1369Met Single submitter ⚠
- p.Val173Ile Single submitter ⚠
- p.Val425Ile Single submitter ⚠
- p.Val506Ala Single submitter ⚠
- p.Val970Ile Single submitter ⚠
- p.Ser993Leu No assertion criteria ⚠