CARMIL1 — 9 ClinVar variants
All ClinVar germline CARMIL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
9 Uncertain significance
Full CARMIL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CARMIL1 p.Ala746Val Uncertain significance Single submitter
-
CARMIL1 p.Arg1082Gln
Uncertain significance
Single submitter
sensorineural hearing loss disorder
- CARMIL1 p.Asp1110Asn Uncertain significance Single submitter
- CARMIL1 p.Glu4Gln Uncertain significance Single submitter
- CARMIL1 p.Gly1046Asp Uncertain significance Single submitter
- CARMIL1 p.Ile951Val Uncertain significance Single submitter
- CARMIL1 p.Ser415Tyr Uncertain significance Single submitter
- CARMIL1 p.Ser835Gly Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All CARMIL1 variants
Uncertain significance 9
- p.Ala746Val Single submitter ⚠
- p.Arg1082Gln Single submitter sensorineural hearing loss disorder ⚠
- p.Asp1110Asn Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Gly1046Asp Single submitter ⚠
- p.Ile951Val Single submitter ⚠
- p.Phe1029Tyr Single submitter ⚠
- p.Ser415Tyr Single submitter ⚠
- p.Ser835Gly Single submitter ⚠