CARMIL3 — 15 ClinVar variants
All ClinVar germline CARMIL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
15 Uncertain significance
Full CARMIL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CARMIL3 p.Ala685Thr Uncertain significance Single submitter
- CARMIL3 p.Arg1000Pro Uncertain significance Single submitter
- CARMIL3 p.Arg1030Gln Uncertain significance Single submitter
- CARMIL3 p.Arg1053Gln Uncertain significance Single submitter
- CARMIL3 p.Arg1053Trp Uncertain significance Single submitter
- CARMIL3 p.Gln320Arg Uncertain significance Single submitter
- CARMIL3 p.Gly388Ser Uncertain significance Single submitter
- CARMIL3 p.His967Pro Uncertain significance Single submitter
- CARMIL3 p.Lys1279Arg Uncertain significance Single submitter
- CARMIL3 p.Met994Ile Uncertain significance Single submitter
- CARMIL3 p.Pro1043Leu Uncertain significance Single submitter
- CARMIL3 p.Pro1085Leu Uncertain significance Single submitter
- CARMIL3 p.Pro989Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CARMIL3 variants
Uncertain significance 15
- p.Ala685Thr Single submitter ⚠
- p.Arg1000Pro Single submitter ⚠
- p.Arg1030Gln Single submitter ⚠
- p.Arg1053Gln Single submitter ⚠
- p.Arg1053Trp Single submitter ⚠
- p.Gln320Arg Single submitter ⚠
- p.Glu246Val Single submitter ⚠
- p.Glu686Lys Single submitter ⚠
- p.Gly388Ser Single submitter ⚠
- p.His967Pro Single submitter ⚠
- p.Lys1279Arg Single submitter ⚠
- p.Met994Ile Single submitter ⚠
- p.Pro1043Leu Single submitter ⚠
- p.Pro1085Leu Single submitter ⚠
- p.Pro989Ala Single submitter ⚠