CAMK1D — 35 ClinVar variants
All ClinVar germline CAMK1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Likely pathogenic · 2 Benign · 2 Likely benign · 30 Uncertain significance
Full CAMK1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAMK1D p.Ala295Val Uncertain significance Single submitter
- CAMK1D p.Ala58Val Uncertain significance Single submitter
- CAMK1D p.Arg257Gln Uncertain significance Single submitter
- CAMK1D p.Arg275Gln Uncertain significance Single submitter
- CAMK1D p.Arg298Gln Uncertain significance Single submitter
- CAMK1D p.Arg370Gln Uncertain significance Single submitter
- CAMK1D p.Asn92His Uncertain significance Single submitter
- CAMK1D p.Asp241Asn Uncertain significance Single submitter
- CAMK1D p.Glu369Lys Uncertain significance Single submitter
- CAMK1D p.Glu41Lys Uncertain significance Single submitter
- CAMK1D p.His381Gln Uncertain significance Single submitter
- CAMK1D p.Ile70Val Uncertain significance Single submitter
- CAMK1D p.Leu193Val Uncertain significance Single submitter
- CAMK1D p.Lys26Arg Uncertain significance Single submitter
- CAMK1D p.Phe356Ser Uncertain significance Single submitter
- CAMK1D p.Phe49Tyr Uncertain significance Single submitter
- CAMK1D p.Ser334Gly Uncertain significance Single submitter
- CAMK1D p.Ser361Leu Uncertain significance Single submitter
- CAMK1D p.Ser384Arg Uncertain significance Single submitter
- CAMK1D p.Thr45Ser Uncertain significance Single submitter
- CAMK1D p.Val316Ile Uncertain significance Single submitter
- CAMK1D p.Val72Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CAMK1D p.Ile66Met Benign Multiple submitters
- CAMK1D p.Ala33Thr Uncertain significance Single submitter
- CAMK1D p.Arg126Leu Uncertain significance Single submitter
- CAMK1D p.His323Tyr Uncertain significance Single submitter
- CAMK1D p.Phe34Ser Uncertain significance Single submitter
- CAMK1D p.Trp12Gly Uncertain significance Single submitter
All CAMK1D variants
Likely pathogenic 1
- p.Leu151fs Single submitter intellectual disability
Benign 2
- p.Ile66Met Multiple submitters ⚠
- p.Asp108= Single submitter
Uncertain significance 30
- p.Ala295Val Single submitter ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Arg126Leu Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg298Gln Single submitter ⚠
- p.Arg370Gln Single submitter ⚠
- p.Asn92His Single submitter ⚠
- p.Asp241Asn Single submitter ⚠
- p.Glu148Ter Single submitter
- p.Glu369Lys Single submitter ⚠
- p.Glu36Gln Single submitter
- p.Glu41Lys Single submitter ⚠
- p.His323Tyr Single submitter ⚠
- p.His381Gln Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu193Val Single submitter ⚠
- p.Lys26Arg Single submitter ⚠
- p.Phe34Ser Single submitter ⚠
- p.Phe356Ser Single submitter ⚠
- p.Phe49Tyr Single submitter ⚠
- p.Ser334Gly Single submitter ⚠
- p.Ser361Leu Single submitter ⚠
- p.Ser384Arg Single submitter ⚠
- p.Thr269Met Single submitter
- p.Thr45Ser Single submitter ⚠
- p.Trp12Gly Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val72Ile Single submitter ⚠