CAMK4 — 92 ClinVar variants

All ClinVar germline CAMK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

2 Pathogenic · 4 Benign · 6 Likely benign · 80 Uncertain significance

Full CAMK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 41

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

Predictors split 29

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

All CAMK4 variants

Pathogenic 2

c.981+1G>A Single submitter intellectual disability
p.Met310Thr Single submitter

Benign 4

c.625+4T>G Single submitter
p.Ala458= Single submitter
p.Asp178Asn Single submitter ⚠
p.Gln465Arg Single submitter

Likely benign 6

c.240+8T>G Single submitter
p.Ala21Val Single submitter
p.Ala413Val Single submitter
p.Asp247Asn Single submitter
p.Thr25Ala Single submitter
p.Val397= Single submitter

Uncertain significance 80

p.Gln314Ter Multiple submitters
c.303+1G>C Single submitter
c.303+2T>C Single submitter
p.Ala153Gly Single submitter ⚠
p.Ala179Val Single submitter ⚠
p.Ala217Val Single submitter ⚠
p.Ala26Thr Single submitter ⚠
p.Ala355Val Single submitter ⚠
p.Ala413Asp Single submitter ⚠
p.Ala41Ser Single submitter ⚠
p.Ala56Thr Single submitter ⚠
p.Arg139Gln Single submitter ⚠
p.Arg139Ter Single submitter
p.Arg278Thr Single submitter ⚠
p.Arg324His Single submitter ⚠
p.Arg357Gly Single submitter ⚠
p.Arg54Trp Single submitter ⚠
p.Asn409Asp Single submitter ⚠
p.Asp143Gly Single submitter ⚠
p.Asp164Asn Single submitter ⚠
p.Asp284Asn Single submitter ⚠
p.Asp35Asn Single submitter ⚠
p.Asp35Gly Single submitter ⚠
p.Asp368Asn Single submitter ⚠
p.Asp381Asn Single submitter ⚠
p.Asp381Val Single submitter ⚠
p.Asp44Gly Single submitter ⚠
p.Asp467Val Single submitter ⚠
p.Asp82Glu Single submitter ⚠
p.Cys63Tyr Single submitter ⚠
p.Glu268Asp Single submitter ⚠
p.Glu412Asp Single submitter ⚠
p.Glu49Lys Single submitter ⚠
p.Glu89Asp Single submitter ⚠
p.Gly124del Single submitter
p.Gly24Glu Single submitter ⚠
p.Gly347fs Single submitter
p.Gly389Val Single submitter ⚠
p.His98Asn Single submitter ⚠
p.Ile102Val Single submitter ⚠
p.Ile107Val Single submitter ⚠
p.Ile372Val Single submitter ⚠
p.Ile378fs Single submitter
p.Leu280Val Single submitter ⚠
p.Leu283Trp Single submitter ⚠
p.Leu394Val Single submitter ⚠
p.Leu94del Single submitter
p.Lys182Arg Single submitter ⚠
p.Lys274Arg Single submitter ⚠
p.Lys325Glu Single submitter ⚠
p.Lys3Glu Single submitter ⚠
p.Lys84Asn Single submitter ⚠
p.Met224Val Single submitter ⚠
p.Met310Val Single submitter CAMK4-related disorder ⚠
p.Pro175Ala Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro180Ala Single submitter ⚠
p.Pro210Ser Single submitter ⚠
p.Pro23Ser Single submitter ⚠
p.Pro30Arg Single submitter ⚠
p.Pro414Arg Single submitter ⚠
p.Ser13Cys Single submitter ⚠
p.Ser13Phe Single submitter ⚠
p.Ser226Pro Single submitter ⚠
p.Ser345Asn Single submitter ⚠
p.Ser43Gly Single submitter ⚠
p.Ser457Phe Single submitter ⚠
p.Thr18Ser Single submitter ⚠
p.Thr231Ser Single submitter ⚠
p.Thr301Ile Single submitter ⚠
p.Thr443Ala Single submitter ⚠
p.Trp299Ter Single submitter
p.Tyr242Cys Single submitter ⚠
p.Tyr260Asn Single submitter ⚠
p.Tyr32Ser Single submitter ⚠
p.Tyr32Ter Single submitter
p.Val196Leu Single submitter ⚠
p.Val227Ile Single submitter ⚠
p.Val277Leu Single submitter ⚠
p.Val403fs Single submitter