CRBN — 117 ClinVar variants
All ClinVar germline CRBN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
5 Pathogenic · 7 Likely pathogenic · 5 Conflicting · 8 Benign · 1 Benign/Likely benign · 18 Likely benign · 73 Uncertain significance
Full CRBN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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.
-
CRBN p.Arg242Cys
Conflicting
Single submitter
intellectual disability, autosomal recessive 2
-
CRBN p.Asp9Glu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CRBN p.Gln7Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRBN p.Met14Leu
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 2
-
CRBN p.Ala10Gly
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 2
-
CRBN p.Ala10Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Ala10Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Ala10Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Ala11Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Ala62Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Arg145Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Arg215Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Arg242Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Asp217Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Asp408Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Asp6Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Asp6His Uncertain significance Single submitter
-
CRBN p.Asp76Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Cys205Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Cys205Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Cys234Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Cys323Arg Uncertain significance Single submitter
-
CRBN p.Gln134Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Gln7Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Glu24Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Glu263Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Glu266Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Glu28Asp Uncertain significance Single submitter
- CRBN p.Gly344Arg Uncertain significance Single submitter
-
CRBN p.Gly372Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Gly383Trp Uncertain significance Single submitter
- CRBN p.Gly3Arg Uncertain significance Single submitter
-
CRBN p.Gly3Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.His12Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.His12Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.His12Tyr Uncertain significance Single submitter
-
CRBN p.His68Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Ile301Val Uncertain significance Single submitter
-
CRBN p.Ile371Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Leu370Arg Uncertain significance Single submitter
-
CRBN p.Met14Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Phe208Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Pro345Leu
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 2
-
CRBN p.Ser52Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Thr193Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Val80Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Val83Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 23
The independent predictors disagree with each other — read with care.
-
CRBN p.Arg373Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRBN p.Asp313His
Uncertain significance
Multiple submitters
intellectual disability
-
CRBN p.Glu32Lys
Uncertain significance
Multiple submitters
intellectual disability, autosomal recessive 2
-
CRBN p.Pro212Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CRBN p.Arg283Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Arg373Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Asn127Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Asn16Lys Uncertain significance Single submitter
-
CRBN p.Asp255His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Cys441Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Gln100His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Glu27Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Glu30Lys Conflicting Single submitter
-
CRBN p.Gly136Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Ile257Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Ile331Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Lys364Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Lys392Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CRBN p.Pro85Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Ser195Phe Uncertain significance Single submitter
-
CRBN p.Ser25Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CRBN p.Thr96Ala Uncertain significance Single submitter
-
CRBN p.Trp223Arg
Uncertain significance
Single submitter
Inborn genetic diseases
All CRBN variants
Pathogenic 5
- p.Arg145Ter Multiple submitters intellectual disability, autosomal recessive 2
- c.835+1G>A Single submitter intellectual disability, autosomal recessive 2
- p.Asp270fs Single submitter
- p.Tyr282_Arg283delinsTer Single submitter
- p.Pro44fs No assertion criteria intellectual disability, autosomal recessive 2
Likely pathogenic 7
- p.Cys391Arg Multiple submitters intellectual disability, autosomal recessive 2
- p.Ser214Ter Multiple submitters intellectual disability, autosomal recessive 2
- p.Gln306fs Single submitter
- p.Gln79Ter Single submitter
- p.Lys42Ter Single submitter
- p.Trp264Ter Single submitter
- p.Asn367Ile No assertion criteria plasma cell myeloma
Conflicting classifications of pathogenicity 5
- p.Arg242Cys Single submitter intellectual disability, autosomal recessive 2 ⚠
- p.Arg419Ter Single submitter intellectual disability, autosomal recessive 2
- p.Asp9Glu Single submitter Inborn genetic diseases ⚠
- p.Gln218= Single submitter
- p.Glu30Lys Single submitter ⚠
Benign 8
- c.175-9T>C Multiple submitters intellectual disability, autosomal recessive 2
- c.750+32A>G Multiple submitters intellectual disability, autosomal recessive 2
- p.His73= Multiple submitters
- p.Phe414= Multiple submitters
- p.Thr403= Multiple submitters
- p.Tyr245= Multiple submitters intellectual disability, autosomal recessive 2
- c.*21_*24dup Single submitter
- p.Glu146= Single submitter
Benign/Likely benign 1
- c.175-5T>A Multiple submitters
Likely benign 18
- p.Thr418= Multiple submitters Inborn genetic diseases
- p.Ala11Thr Single submitter Inborn genetic diseases
- p.Asp436= Single submitter
- p.Cys188= Single submitter
- p.Gly383= Single submitter Inborn genetic diseases
- p.His357= Single submitter
- p.Ile160= Single submitter
- p.Pro411= Single submitter Inborn genetic diseases
- p.Pro85= Single submitter
- p.Pro93= Single submitter
- p.Ser192= Single submitter
- p.Thr137= Single submitter
- p.Thr425Met Single submitter
- p.Tyr221Cys Single submitter Inborn genetic diseases
- p.Tyr363= Single submitter
- c.1148+6A>G No assertion criteria CRBN-related disorder
- p.Gln198= No assertion criteria CRBN-related disorder
- p.Val197Ile No assertion criteria CRBN-related disorder
Uncertain significance 73
- p.Arg373Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp313His Multiple submitters intellectual disability ⚠
- p.Gln7Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu32Lys Multiple submitters intellectual disability, autosomal recessive 2 ⚠
- p.Leu20_Pro22del Multiple submitters
- p.Met14Leu Multiple submitters intellectual disability, autosomal recessive 2 ⚠
- p.Pro212Ala Multiple submitters Inborn genetic diseases ⚠
- c.1148+9A>G Single submitter
- c.377+13A>C Single submitter
- c.750+5_750+8del Single submitter intellectual disability, autosomal recessive 2
- p.Ala10Gly Single submitter intellectual disability, autosomal recessive 2 ⚠
- p.Ala10Pro Single submitter Inborn genetic diseases ⚠
- p.Ala10Ser Single submitter Inborn genetic diseases ⚠
- p.Ala10Val Single submitter Inborn genetic diseases ⚠
- p.Ala11Ser Single submitter Inborn genetic diseases ⚠
- p.Ala62Gly Single submitter Inborn genetic diseases ⚠
- p.Arg145Gln Single submitter Inborn genetic diseases ⚠
- p.Arg215Gly Single submitter Inborn genetic diseases ⚠
- p.Arg242Pro Single submitter Inborn genetic diseases ⚠
- p.Arg283Ser Single submitter Inborn genetic diseases ⚠
- p.Arg373Leu Single submitter Inborn genetic diseases ⚠
- p.Asn127Ser Single submitter Inborn genetic diseases ⚠
- p.Asn16Lys Single submitter ⚠
- p.Asp217Asn Single submitter Inborn genetic diseases ⚠
- p.Asp255His Single submitter Inborn genetic diseases ⚠
- p.Asp408Asn Single submitter Inborn genetic diseases ⚠
- p.Asp408fs Single submitter
- p.Asp6Glu Single submitter Inborn genetic diseases ⚠
- p.Asp6His Single submitter ⚠
- p.Asp76Asn Single submitter Inborn genetic diseases ⚠
- p.Cys205Trp Single submitter Inborn genetic diseases ⚠
- p.Cys205Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys234Trp Single submitter Inborn genetic diseases ⚠
- p.Cys323Arg Single submitter ⚠
- p.Cys441Arg Single submitter Inborn genetic diseases ⚠
- p.Gln100His Single submitter Inborn genetic diseases ⚠
- p.Gln134Arg Single submitter Inborn genetic diseases ⚠
- p.Gln7Glu Single submitter Inborn genetic diseases ⚠
- p.Glu24Asp Single submitter Inborn genetic diseases ⚠
- p.Glu263Val Single submitter Inborn genetic diseases ⚠
- p.Glu266Gly Single submitter Inborn genetic diseases ⚠
- p.Glu27Lys Single submitter Inborn genetic diseases ⚠
- p.Glu28Asp Single submitter ⚠
- p.Gly136Ala Single submitter Inborn genetic diseases ⚠
- p.Gly344Arg Single submitter ⚠
- p.Gly372Arg Single submitter Inborn genetic diseases ⚠
- p.Gly383Trp Single submitter ⚠
- p.Gly3Arg Single submitter ⚠
- p.Gly3Ser Single submitter Inborn genetic diseases ⚠
- p.His12Asp Single submitter Inborn genetic diseases ⚠
- p.His12Pro Single submitter Inborn genetic diseases ⚠
- p.His12Tyr Single submitter ⚠
- p.His68Arg Single submitter Inborn genetic diseases ⚠
- p.Ile257Met Single submitter Inborn genetic diseases ⚠
- p.Ile301Val Single submitter ⚠
- p.Ile331Met Single submitter Inborn genetic diseases ⚠
- p.Ile371Leu Single submitter Inborn genetic diseases ⚠
- p.Leu370Arg Single submitter ⚠
- p.Leu440fs Single submitter
- p.Lys364Glu Single submitter Inborn genetic diseases ⚠
- p.Lys392Glu Single submitter Inborn genetic diseases ⚠
- p.Met14Val Single submitter Inborn genetic diseases ⚠
- p.Phe208Leu Single submitter Inborn genetic diseases ⚠
- p.Pro345Leu Single submitter intellectual disability, autosomal recessive 2 ⚠
- p.Pro85Arg Single submitter Inborn genetic diseases ⚠
- p.Ser195Phe Single submitter ⚠
- p.Ser25Ile Single submitter Inborn genetic diseases ⚠
- p.Ser52Gly Single submitter Inborn genetic diseases ⚠
- p.Thr193Ala Single submitter Inborn genetic diseases ⚠
- p.Thr96Ala Single submitter ⚠
- p.Trp223Arg Single submitter Inborn genetic diseases ⚠
- p.Val80Met Single submitter Inborn genetic diseases ⚠
- p.Val83Ile Single submitter Inborn genetic diseases ⚠