SIK2 — 92 ClinVar variants

All ClinVar germline SIK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

1 Benign · 4 Likely benign · 87 Uncertain significance

Full SIK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 77

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 6

The independent predictors disagree with each other — read with care.

All SIK2 variants

Benign 1

p.Gln600= Multiple submitters

Likely benign 4

p.Arg755His Single submitter
p.Arg833Gln Single submitter
p.Lys266Arg Single submitter
p.Pro626= Single submitter

Uncertain significance 87

p.Ala388Ser Single submitter ⚠
p.Ala398Asp Single submitter ⚠
p.Ala469Asp Single submitter ⚠
p.Ala635Val Single submitter ⚠
p.Ala854Thr Single submitter ⚠
p.Ala858Val Single submitter ⚠
p.Ala872Gly Single submitter ⚠
p.Arg113Gln Single submitter ⚠
p.Arg113Trp Single submitter ⚠
p.Arg121Gln Single submitter ⚠
p.Arg279Lys Single submitter ⚠
p.Arg341Gly Single submitter ⚠
p.Arg437Gln Single submitter ⚠
p.Arg547Leu Single submitter ⚠
p.Arg672Gln Single submitter ⚠
p.Arg706Trp Single submitter ⚠
p.Arg721Gln Single submitter ⚠
p.Asn490Asp Single submitter ⚠
p.Asn920Lys Single submitter ⚠
p.Asp21Asn Single submitter ⚠
p.Asp465Glu Single submitter ⚠
p.Asp57Val Single submitter ⚠
p.Asp896Asn Single submitter ⚠
p.Cys865Gly Single submitter ⚠
p.Gln278Arg Single submitter ⚠
p.Gln392Lys Single submitter ⚠
p.Gln653Arg Single submitter ⚠
p.Gln772Leu Single submitter ⚠
p.Gln795Glu Single submitter ⚠
p.Gln819Arg Single submitter ⚠
p.Gln874His Single submitter ⚠
p.Glu286Gln Single submitter ⚠
p.Glu414Lys Single submitter ⚠
p.Glu627Gln Single submitter ⚠
p.Glu783Lys Single submitter ⚠
p.Gly37Glu Single submitter ⚠
p.Gly425Val Single submitter ⚠
p.Gly455Glu Single submitter ⚠
p.Gly879Glu Single submitter ⚠
p.Ile248Val Single submitter
p.Ile262Val Single submitter ⚠
p.Ile265Val Single submitter ⚠
p.Ile315Thr Single submitter ⚠
p.Leu753Phe Single submitter ⚠
p.Leu82Phe Single submitter ⚠
p.Leu912Gln Single submitter ⚠
p.Lys28Asn Single submitter ⚠
p.Lys321Arg Single submitter ⚠
p.Lys43Arg Single submitter ⚠
p.Met154Ile Single submitter ⚠
p.Met548Val Single submitter ⚠
p.Pro14Ala Single submitter ⚠
p.Pro220Leu Single submitter
p.Pro284Gln Single submitter ⚠
p.Pro380Leu Single submitter ⚠
p.Pro557Ser Single submitter ⚠
p.Pro560Thr Single submitter ⚠
p.Pro626Leu Single submitter ⚠
p.Pro687Leu Single submitter ⚠
p.Pro704Arg Single submitter ⚠
p.Pro705Leu Single submitter ⚠
p.Pro745Leu Single submitter ⚠
p.Pro767Leu Single submitter ⚠
p.Pro812Ala Single submitter ⚠
p.Pro815Leu Single submitter ⚠
p.Pro827Thr Single submitter ⚠
p.Pro829Thr Single submitter ⚠
p.Pro857Ser Single submitter ⚠
p.Pro859Ala Single submitter ⚠
p.Pro864Thr Single submitter ⚠
p.Ser257Pro Single submitter ⚠
p.Ser394Phe Single submitter ⚠
p.Ser475Pro Single submitter ⚠
p.Ser534Phe Single submitter ⚠
p.Ser644Gly Single submitter ⚠
p.Ser645Gly Single submitter ⚠
p.Ser792Asn Single submitter ⚠
p.Ser804Pro Single submitter ⚠
p.Ser893Thr Single submitter ⚠
p.Thr25Pro Single submitter ⚠
p.Thr608Ser Single submitter
p.Thr805Ile Single submitter ⚠
p.Thr863Ile Single submitter ⚠
p.Tyr283Cys Single submitter ⚠
p.Tyr323Cys Single submitter ⚠
p.Val187Ile Single submitter
p.Val915Leu Single submitter ⚠