CRYGS — 68 ClinVar variants
All ClinVar germline CRYGS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 5 Benign · 1 Benign/Likely benign · 7 Likely benign · 45 Uncertain significance
Full CRYGS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CRYGS p.Arg72His
Conflicting
Single submitter
cataract 20 multiple types
-
CRYGS p.Asp13Glu
Conflicting
Single submitter
Inborn genetic diseases
-
CRYGS p.Asp26Gly
Conflicting
Single submitter
cataract 20 multiple types
Predictors lean, ClinVar uncertain 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CRYGS p.Arg125Gln
Uncertain significance
Multiple submitters
cataract 20 multiple types
-
CRYGS p.Arg174Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRYGS p.Glu100Ala
Uncertain significance
Multiple submitters
cataract 20 multiple types
-
CRYGS p.Ala85Thr
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Arg174Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Arg72Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Arg79His
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Cys83Arg
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Cys83Tyr
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Gln71His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Gln93Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Gly57Arg
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Gly65Val
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Gly75Asp
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Gly92Asp
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.His87Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Ile118Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Ile40Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Leu80Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Met119Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Phe10Val
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Pro168Ser
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Ser129Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CRYGS p.Ser167Cys Uncertain significance Single submitter
-
CRYGS p.Ser90Thr
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Thr46Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Trp47Arg
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Tyr11Cys
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Asp78Asn
Uncertain significance
No assertion criteria
CRYGS-related disorder
-
CRYGS p.Gly45Asp
Uncertain significance
No assertion criteria
CRYGS-related disorder
Predictors split 8
The independent predictors disagree with each other — read with care.
-
CRYGS p.Arg36His
Uncertain significance
Multiple submitters
cataract 20 multiple types
-
CRYGS p.Arg146Cys
Uncertain significance
Single submitter
cataract 20 multiple types
-
CRYGS p.Arg158Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Arg174His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Arg175Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Arg19His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYGS p.Asp162Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CRYGS p.Ile40Phe Uncertain significance Single submitter
All CRYGS variants
Pathogenic 4
- p.Gly18Asp Single submitter cataract 20 multiple types
- p.Gly18Val Single submitter retinitis pigmentosa
- p.Phe10_Tyr11delinsLeuAsn No assertion criteria Developmental cataract
- p.Val42Met No assertion criteria cataract 20 multiple types
Likely pathogenic 3
- p.Ile8Asn Single submitter
- p.Ser39Cys Single submitter cataract 20 multiple types
- p.Tyr67Asn Single submitter
Conflicting classifications of pathogenicity 3
- p.Arg72His Single submitter cataract 20 multiple types ⚠
- p.Asp13Glu Single submitter Inborn genetic diseases ⚠
- p.Asp26Gly Single submitter cataract 20 multiple types ⚠
Benign 5
- c.21+54C>A Multiple submitters
- c.265-123G>A Multiple submitters
- p.Ile8= Multiple submitters cataract 20 multiple types
- c.22-297C>G Single submitter
- p.Ile98= Single submitter cataract 20 multiple types
Benign/Likely benign 1
- p.Gly102= Multiple submitters cataract 20 multiple types
Likely benign 7
- c.21+32G>A Multiple submitters
- p.Gly102Glu Multiple submitters cataract 20 multiple types
- c.264+104G>A Single submitter
- c.264+183G>A Single submitter
- c.265-12G>A Single submitter cataract 20 multiple types
- c.-18C>G Single submitter
- p.Thr112= Single submitter cataract 20 multiple types
Uncertain significance 45
- p.Arg125Gln Multiple submitters cataract 20 multiple types ⚠
- p.Arg174Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg36His Multiple submitters cataract 20 multiple types ⚠
- p.Glu100Ala Multiple submitters cataract 20 multiple types ⚠
- c.21+6T>C Single submitter cataract 20 multiple types
- p.Ala85Thr Single submitter cataract 20 multiple types ⚠
- p.Arg146Cys Single submitter cataract 20 multiple types ⚠
- p.Arg158Gln Single submitter Inborn genetic diseases ⚠
- p.Arg174His Single submitter Inborn genetic diseases ⚠
- p.Arg174Ser Single submitter Inborn genetic diseases ⚠
- p.Arg175Cys Single submitter Inborn genetic diseases ⚠
- p.Arg19Cys Single submitter Inborn genetic diseases
- p.Arg19His Single submitter Inborn genetic diseases ⚠
- p.Arg72Cys Single submitter Inborn genetic diseases ⚠
- p.Arg79His Single submitter cataract 20 multiple types ⚠
- p.Asp162Asn Single submitter Inborn genetic diseases ⚠
- p.Cys83Arg Single submitter cataract 20 multiple types ⚠
- p.Cys83Tyr Single submitter cataract 20 multiple types ⚠
- p.Gln71His Single submitter Inborn genetic diseases ⚠
- p.Gln93Arg Single submitter Inborn genetic diseases ⚠
- p.Glu141Ter Single submitter cataract 20 multiple types
- p.Gly57Arg Single submitter cataract 20 multiple types ⚠
- p.Gly65Val Single submitter cataract 20 multiple types ⚠
- p.Gly75Asp Single submitter cataract 20 multiple types ⚠
- p.Gly92Asp Single submitter cataract 20 multiple types ⚠
- p.His87Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile118Val Single submitter Inborn genetic diseases ⚠
- p.Ile40Phe Single submitter ⚠
- p.Ile40Val Single submitter Inborn genetic diseases ⚠
- p.Leu80Ile Single submitter Inborn genetic diseases ⚠
- p.Met119Leu Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter cataract 20 multiple types
- p.Phe10Val Single submitter cataract 20 multiple types ⚠
- p.Pro168Ser Single submitter cataract 20 multiple types ⚠
- p.Pro68Leu Single submitter Inborn genetic diseases
- p.Ser129Phe Single submitter Inborn genetic diseases ⚠
- p.Ser167Cys Single submitter ⚠
- p.Ser90Thr Single submitter cataract 20 multiple types ⚠
- p.Thr46Ser Single submitter Inborn genetic diseases ⚠
- p.Trp47Arg Single submitter cataract 20 multiple types ⚠
- p.Tyr11Cys Single submitter cataract 20 multiple types ⚠
- p.Tyr150Ter Single submitter cataract 20 multiple types
- p.Tyr21Cys Single submitter cataract 20 multiple types
- p.Asp78Asn No assertion criteria CRYGS-related disorder ⚠
- p.Gly45Asp No assertion criteria CRYGS-related disorder ⚠