CRYBA2 — 43 ClinVar variants
All ClinVar germline CRYBA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
3 Benign · 4 Likely benign · 36 Uncertain significance
Full CRYBA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 20
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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CRYBA2 p.Ser191Pro
Uncertain significance
Multiple submitters
early-onset anterior polar cataract
- CRYBA2 p.Ala10Pro Uncertain significance Single submitter
- CRYBA2 p.Ala6Ser Uncertain significance Single submitter
- CRYBA2 p.Arg25Ser Uncertain significance Single submitter
- CRYBA2 p.Arg39His Uncertain significance Single submitter
- CRYBA2 p.Asp21Asn Uncertain significance Single submitter
- CRYBA2 p.Gly118Ala Uncertain significance Single submitter
- CRYBA2 p.Gly148Arg Uncertain significance Single submitter
- CRYBA2 p.Gly148Glu Uncertain significance Single submitter
- CRYBA2 p.Gly157Asp Uncertain significance Single submitter
- CRYBA2 p.Gly178Arg Uncertain significance Single submitter
- CRYBA2 p.Phe121Ile Uncertain significance Single submitter
- CRYBA2 p.Ser106Ile Uncertain significance Single submitter
- CRYBA2 p.Ser142Phe Uncertain significance Single submitter
- CRYBA2 p.Ser94Phe Uncertain significance Single submitter
- CRYBA2 p.Trp81Cys Uncertain significance Single submitter
- CRYBA2 p.Tyr127His Uncertain significance Single submitter
- CRYBA2 p.Tyr155Cys Uncertain significance Single submitter
- CRYBA2 p.Tyr163Cys Uncertain significance Single submitter
- CRYBA2 p.Val145Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
-
CRYBA2 p.Ala80Thr
Uncertain significance
Multiple submitters
CRYBA2-related disorder
-
CRYBA2 p.Ala34Glu
Uncertain significance
Single submitter
early-onset anterior polar cataract
- CRYBA2 p.Arg107Cys Uncertain significance Single submitter
-
CRYBA2 p.Arg107His
Uncertain significance
Single submitter
CRYBA2-related disorder
- CRYBA2 p.Arg159Gln Uncertain significance Single submitter
- CRYBA2 p.Arg167Gln Uncertain significance Single submitter
- CRYBA2 p.Arg167Trp Uncertain significance Single submitter
- CRYBA2 p.Arg26Gly Uncertain significance Single submitter
- CRYBA2 p.Arg96Gln Uncertain significance Single submitter
- CRYBA2 p.Arg96Trp Uncertain significance Single submitter
- CRYBA2 p.Gln66Arg Uncertain significance Single submitter
- CRYBA2 p.Gly181Ser Uncertain significance Single submitter
- CRYBA2 p.Ser31Asn Uncertain significance Single submitter
-
CRYBA2 p.Arg169Gln
Benign
No assertion criteria
CRYBA2-related disorder
All CRYBA2 variants
Benign 3
- c.303+127A>G Multiple submitters
- c.304-16T>C Multiple submitters
- p.Arg169Gln No assertion criteria CRYBA2-related disorder ⚠
Likely benign 4
- c.-223C>T Single submitter
- c.-52G>C Single submitter
- p.Gly178Ser Single submitter
- p.Val36= Single submitter
Uncertain significance 36
- p.Ala80Thr Multiple submitters CRYBA2-related disorder ⚠
- p.Ser191Pro Multiple submitters early-onset anterior polar cataract ⚠
- c.303+5G>A Single submitter cataract 42
- c.446+1G>A Single submitter cataract 42
- p.Ala10Pro Single submitter ⚠
- p.Ala34Glu Single submitter early-onset anterior polar cataract ⚠
- p.Ala6Ser Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg107His Single submitter CRYBA2-related disorder ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Arg167Trp Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg26Gly Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asp21Asn Single submitter ⚠
- p.Gln66Arg Single submitter ⚠
- p.Gly118Ala Single submitter ⚠
- p.Gly148Arg Single submitter ⚠
- p.Gly148Glu Single submitter ⚠
- p.Gly157Asp Single submitter ⚠
- p.Gly178Arg Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Phe121Ile Single submitter ⚠
- p.Ser106Ile Single submitter ⚠
- p.Ser142Phe Single submitter ⚠
- p.Ser31Asn Single submitter ⚠
- p.Ser94Phe Single submitter ⚠
- p.Trp81Cys Single submitter ⚠
- p.Tyr127His Single submitter ⚠
- p.Tyr155Cys Single submitter ⚠
- p.Tyr163Cys Single submitter ⚠
- p.Val145Ala Single submitter ⚠
- p.Cys27Ter No assertion criteria CRYBA2-related disorder