CAMKV — 34 ClinVar variants
All ClinVar germline CAMKV variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Benign · 3 Likely benign · 28 Uncertain significance
Full CAMKV 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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAMKV p.Ala354Thr Uncertain significance Single submitter
- CAMKV p.Ala380Val Uncertain significance Single submitter
- CAMKV p.Ala382Thr Uncertain significance Single submitter
- CAMKV p.Ala456Ser Uncertain significance Single submitter
- CAMKV p.Arg156Trp Uncertain significance Single submitter
- CAMKV p.Arg196Gln Uncertain significance Single submitter
- CAMKV p.Arg199His Uncertain significance Single submitter
- CAMKV p.Arg58Gln Uncertain significance Single submitter
- CAMKV p.Asp254Gly Uncertain significance Single submitter
- CAMKV p.Gln303His Uncertain significance Single submitter
- CAMKV p.Glu185Lys Uncertain significance Single submitter
- CAMKV p.Glu440Asp Uncertain significance Single submitter
- CAMKV p.Glu494Val Uncertain significance Single submitter
- CAMKV p.Ser483Gly Uncertain significance Single submitter
- CAMKV p.Tyr221His Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CAMKV p.Ala380Gly Uncertain significance Single submitter
- CAMKV p.Ala386Thr Uncertain significance Single submitter
- CAMKV p.Arg384Cys Uncertain significance Single submitter
- CAMKV p.Arg92His Uncertain significance Single submitter
- CAMKV p.Asp391Gly Uncertain significance Single submitter
- CAMKV p.Asp407Asn Uncertain significance Single submitter
- CAMKV p.Asp423Gly Uncertain significance Single submitter
- CAMKV p.Gln195His Uncertain significance Single submitter
- CAMKV p.Glu279Gly Uncertain significance Single submitter
- CAMKV p.Pro462Leu Uncertain significance Single submitter
- CAMKV p.Thr419Ser Uncertain significance Single submitter
- CAMKV p.Thr422Ile Uncertain significance Single submitter
- CAMKV p.Thr438Ile Uncertain significance Single submitter
All CAMKV variants
Benign 3
- c.776-18T>C Multiple submitters
- p.Asn217= Multiple submitters
- p.Gly9= Multiple submitters
Likely benign 3
- p.Ala426Val Single submitter
- p.Ala475Thr Single submitter
- p.Arg372His Single submitter
Uncertain significance 28
- p.Ala354Thr Single submitter ⚠
- p.Ala380Gly Single submitter ⚠
- p.Ala380Val Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala386Thr Single submitter ⚠
- p.Ala456Ser Single submitter ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg384Cys Single submitter ⚠
- p.Arg58Gln Single submitter ⚠
- p.Arg92His Single submitter ⚠
- p.Asp254Gly Single submitter ⚠
- p.Asp391Gly Single submitter ⚠
- p.Asp407Asn Single submitter ⚠
- p.Asp423Gly Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Gln303His Single submitter ⚠
- p.Glu185Lys Single submitter ⚠
- p.Glu279Gly Single submitter ⚠
- p.Glu440Asp Single submitter ⚠
- p.Glu494Val Single submitter ⚠
- p.Pro462Leu Single submitter ⚠
- p.Ser483Gly Single submitter ⚠
- p.Thr419Ser Single submitter ⚠
- p.Thr422Ile Single submitter ⚠
- p.Thr438Ile Single submitter ⚠
- p.Tyr221His Single submitter ⚠