CLRN2 — 43 ClinVar variants
All ClinVar germline CLRN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Pathogenic · 1 Benign · 4 Likely benign · 37 Uncertain significance
Full CLRN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CLRN2 p.Cys69Tyr
Uncertain significance
Multiple submitters
CLRN2-related disorder
- CLRN2 p.Ala144Thr Uncertain significance Single submitter
- CLRN2 p.Ala158Val Uncertain significance Single submitter
- CLRN2 p.Ala207Val Uncertain significance Single submitter
- CLRN2 p.Ala95Gly Uncertain significance Single submitter
- CLRN2 p.Arg67Gln Uncertain significance Single submitter
- CLRN2 p.Arg79Cys Uncertain significance Single submitter
- CLRN2 p.Asn94Ser Uncertain significance Single submitter
- CLRN2 p.Cys138Ser Uncertain significance Single submitter
- CLRN2 p.Gln184Lys Uncertain significance Single submitter
- CLRN2 p.Glu183Lys Uncertain significance Single submitter
- CLRN2 p.Gly133Arg Uncertain significance Single submitter
- CLRN2 p.Gly146Arg Uncertain significance Single submitter
- CLRN2 p.Gly146Ser Uncertain significance Single submitter
- CLRN2 p.His88Tyr Uncertain significance Single submitter
- CLRN2 p.Ile58Leu Uncertain significance Single submitter
- CLRN2 p.Lys217Gln Uncertain significance Single submitter
- CLRN2 p.Phe178Ser Uncertain significance Single submitter
- CLRN2 p.Phe21Val Uncertain significance Single submitter
- CLRN2 p.Trp9Cys Uncertain significance Single submitter
- CLRN2 p.Val205Leu Uncertain significance Single submitter
- CLRN2 p.Val26Ile Uncertain significance Single submitter
- CLRN2 p.Val90Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
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CLRN2 p.Arg79Leu
Uncertain significance
Multiple submitters
hearing loss, autosomal recessive 117
- CLRN2 p.Ala27Thr Uncertain significance Single submitter
- CLRN2 p.Ala49Thr Uncertain significance Single submitter
- CLRN2 p.Gly133Ser Uncertain significance Single submitter
- CLRN2 p.Gly3Val Uncertain significance Single submitter
- CLRN2 p.Ile124Asn Uncertain significance Single submitter
- CLRN2 p.Lys7Asn Uncertain significance Single submitter
- CLRN2 p.Ser154Asn Uncertain significance Single submitter
- CLRN2 p.Ser188Leu Uncertain significance Single submitter
- CLRN2 p.Ser209Thr Uncertain significance Single submitter
- CLRN2 p.Thr224Met Uncertain significance Single submitter
- CLRN2 p.Tyr185Cys Uncertain significance Single submitter
- CLRN2 p.Tyr63Cys Uncertain significance Single submitter
- CLRN2 p.Val156Met Likely benign Single submitter
- CLRN2 p.Val193Met Uncertain significance Single submitter
All CLRN2 variants
Pathogenic 1
- p.Thr165Lys No assertion criteria hearing loss, autosomal recessive 117
Benign 1
- p.Leu113Val Multiple submitters
Likely benign 4
- p.Ala95Thr Single submitter
- p.Ser197Leu Single submitter
- p.Val156Met Single submitter ⚠
- p.His199Leu No assertion criteria CLRN2-related disorder
Uncertain significance 37
- p.Arg79Leu Multiple submitters hearing loss, autosomal recessive 117 ⚠
- p.Cys69Tyr Multiple submitters CLRN2-related disorder ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Ala95Gly Single submitter ⚠
- p.Arg67Gln Single submitter ⚠
- p.Arg79Cys Single submitter ⚠
- p.Asn94Ser Single submitter ⚠
- p.Cys138Ser Single submitter ⚠
- p.Gln184Lys Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly133Ser Single submitter ⚠
- p.Gly146Arg Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.His88Tyr Single submitter ⚠
- p.Ile124Asn Single submitter ⚠
- p.Ile58Leu Single submitter ⚠
- p.Lys217Gln Single submitter ⚠
- p.Lys7Asn Single submitter ⚠
- p.Phe178Ser Single submitter ⚠
- p.Phe21Val Single submitter ⚠
- p.Ser154Asn Single submitter ⚠
- p.Ser188Leu Single submitter ⚠
- p.Ser209Thr Single submitter ⚠
- p.Thr224Met Single submitter ⚠
- p.Trp9Cys Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Tyr63Cys Single submitter ⚠
- p.Val193Met Single submitter ⚠
- p.Val205Leu Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val90Met Single submitter ⚠