CRYBA4 — 107 ClinVar variants
All ClinVar germline CRYBA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 22 Benign · 5 Benign/Likely benign · 27 Likely benign · 43 Uncertain significance
Full CRYBA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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CRYBA4 p.Ala88Ser
Conflicting
Single submitter
cataract 23
-
CRYBA4 p.Gly21Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CRYBA4 p.Ile109Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRYBA4 p.Phe22Ser
Uncertain significance
Multiple submitters
cataract 23
-
CRYBA4 p.Phe57Val
Uncertain significance
Multiple submitters
cataract 23
-
CRYBA4 p.Ala53Val
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Ala88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Ala98Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Ala9Val
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Arg192Pro
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Arg95Pro
Uncertain significance
Single submitter
cataract 23
- CRYBA4 p.Gln23Pro Uncertain significance Single submitter
-
CRYBA4 p.Glu19Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Glu73Asp
Uncertain significance
Single submitter
cataract 23
- CRYBA4 p.Gly64Arg Uncertain significance Single submitter
-
CRYBA4 p.Gly72Ser
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.His168Gln
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Leu107Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Leu129Pro
Uncertain significance
Single submitter
cataract 23
- CRYBA4 p.Lys174Arg Uncertain significance Single submitter
-
CRYBA4 p.Phe57Ile
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Phe57Leu
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Pro155Leu
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Ser46Pro
Uncertain significance
Single submitter
cataract 23
- CRYBA4 p.Ser46Tyr Uncertain significance Single submitter
-
CRYBA4 p.Ser76Thr
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Trp12Arg
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Val150Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Gly159Arg
Uncertain significance
No assertion criteria
CRYBA4-related disorder
Predictors split 13
The independent predictors disagree with each other — read with care.
-
CRYBA4 p.Val36Met
Benign
Multiple submitters
cataract 23
-
CRYBA4 p.Ala148Ser
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Ala79Asp
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Arg25Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CRYBA4 p.Arg95Gln Uncertain significance Single submitter
-
CRYBA4 p.Glu111Lys
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Glu73Lys
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Gly82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Lys118Glu
Uncertain significance
Single submitter
cataract 23
-
CRYBA4 p.Phe29Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Phe29Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Pro11Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRYBA4 p.Thr30Met
Conflicting
Single submitter
Inborn genetic diseases
All CRYBA4 variants
Pathogenic 4
- p.Tyr74His Single submitter early-onset non-syndromic cataract
- p.Gly64Trp No assertion criteria cataract 23
- p.Leu69Pro No assertion criteria cataract 23
- p.Phe94Ser No assertion criteria cataract 23
Likely pathogenic 2
- p.Gln66_Tyr67delinsHis Single submitter cataract 23
- p.Ser93Pro Single submitter cataract 23
Conflicting classifications of pathogenicity 4
- p.Ala88Ser Single submitter cataract 23 ⚠
- p.Gly21Ser Single submitter Inborn genetic diseases ⚠
- p.Thr30Met Single submitter Inborn genetic diseases ⚠
- p.Val49_Leu50insTer Single submitter cataract 23
Benign 22
- c.158+171C>T Multiple submitters
- c.158+182A>T Multiple submitters
- c.158+58C>T Multiple submitters
- c.159-20A>G Multiple submitters cataract 23
- c.159-256A>G Multiple submitters
- c.159-36C>T Multiple submitters
- c.159-44G>A Multiple submitters
- c.159-87C>T Multiple submitters
- c.300+3A>G Multiple submitters cataract 23
- c.39+166T>C Multiple submitters
- c.40-44G>A Multiple submitters
- c.40-70C>T Multiple submitters
- c.443+110C>T Multiple submitters
- c.444-18G>A Multiple submitters cataract 23
- p.Phe57= Multiple submitters cataract 23
- p.Val36Met Multiple submitters cataract 23 ⚠
- c.300+295del Single submitter
- c.300+295dup Single submitter
- c.40-11del Single submitter cataract 23
- c.40-156G>A Single submitter
- c.40-5C>T Single submitter cataract 23
- p.Phe115= Single submitter cataract 23
Benign/Likely benign 5
- c.40-1G>C Multiple submitters cataract 23
- p.Arg103Cys Multiple submitters cataract 23
- p.Gly72= Multiple submitters cataract 23
- p.Pro155= Multiple submitters cataract 23
- p.Thr108= Multiple submitters cataract 23
Likely benign 27
- c.158+198A>G Multiple submitters
- c.158+1G>A Single submitter cataract 23
- c.159-21_159-20inv Single submitter cataract 23
- c.300+271G>A Single submitter
- c.40-11T>C Single submitter cataract 23
- c.40-7G>T Single submitter cataract 23
- c.443+7G>A Single submitter
- c.444-64C>G Single submitter
- c.-12-40G>A Single submitter
- p.Ala9= Single submitter cataract 23
- p.Ala97Val Single submitter cataract 23
- p.Arg106= Single submitter cataract 23
- p.Arg158= Single submitter cataract 23
- p.Arg26Gln Single submitter cataract 23
- p.Asp20= Single submitter cataract 23
- p.Gly140= Single submitter cataract 23
- p.Gly180= Single submitter cataract 23
- p.Gly81= Single submitter
- p.His27= Single submitter cataract 23
- p.Pro184Leu Single submitter
- p.Ser128= Single submitter cataract 23
- p.Ser35= Single submitter
- p.Ser93= Single submitter cataract 23
- p.Thr30= Single submitter cataract 23
- p.Thr43= Single submitter cataract 23
- p.Tyr86= Single submitter cataract 23
- p.Val36= Single submitter cataract 23
Uncertain significance 43
- p.Ile109Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe22Ser Multiple submitters cataract 23 ⚠
- p.Phe57Val Multiple submitters cataract 23 ⚠
- c.300+1del Single submitter cataract 23
- c.300+2T>C Single submitter cataract 23
- c.300+6T>A Single submitter
- p.Ala148Ser Single submitter cataract 23 ⚠
- p.Ala53Val Single submitter cataract 23 ⚠
- p.Ala79Asp Single submitter cataract 23 ⚠
- p.Ala88Thr Single submitter Inborn genetic diseases ⚠
- p.Ala98Ser Single submitter Inborn genetic diseases ⚠
- p.Ala9Val Single submitter cataract 23 ⚠
- p.Arg192Pro Single submitter cataract 23 ⚠
- p.Arg193_Ile194delinsSerPhe Single submitter cataract 23
- p.Arg25Gln Single submitter Inborn genetic diseases ⚠
- p.Arg71Ter Single submitter cataract 23
- p.Arg95Gln Single submitter ⚠
- p.Arg95Pro Single submitter cataract 23 ⚠
- p.Gln23Pro Single submitter ⚠
- p.Glu111Lys Single submitter cataract 23 ⚠
- p.Glu19Lys Single submitter Inborn genetic diseases ⚠
- p.Glu73Asp Single submitter cataract 23 ⚠
- p.Glu73Lys Single submitter cataract 23 ⚠
- p.Gly64Arg Single submitter ⚠
- p.Gly72Ser Single submitter cataract 23 ⚠
- p.Gly82Ser Single submitter Inborn genetic diseases ⚠
- p.His168Gln Single submitter cataract 23 ⚠
- p.Leu107Val Single submitter Inborn genetic diseases ⚠
- p.Leu129Pro Single submitter cataract 23 ⚠
- p.Lys118Glu Single submitter cataract 23 ⚠
- p.Lys174Arg Single submitter ⚠
- p.Phe29Ile Single submitter Inborn genetic diseases ⚠
- p.Phe29Leu Single submitter Inborn genetic diseases ⚠
- p.Phe57Ile Single submitter cataract 23 ⚠
- p.Phe57Leu Single submitter cataract 23 ⚠
- p.Pro11Thr Single submitter Inborn genetic diseases ⚠
- p.Pro155Leu Single submitter cataract 23 ⚠
- p.Ser46Pro Single submitter cataract 23 ⚠
- p.Ser46Tyr Single submitter ⚠
- p.Ser76Thr Single submitter cataract 23 ⚠
- p.Trp12Arg Single submitter cataract 23 ⚠
- p.Val150Ile Single submitter Inborn genetic diseases ⚠
- p.Gly159Arg No assertion criteria CRYBA4-related disorder ⚠