CRBN Chromosome 3
Cereblon
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What This Gene Does
This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Associated Conditions (6)
Intellectual disability
autosomal recessive 2
CRBN-related disorder
Inborn genetic diseases
Multiple myeloma
See cases
Key Variants
RS121918368
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 2, Intellectual disability
Health Risk
RS373145132
Conflicting classifications of pathogenicity
Health Risk
RS541404259
Conflicting classifications of pathogenicity
CRBN-related disorder, Intellectual disability, autosomal recessive 2
Health Risk
RS776519022
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS78564552
Conflicting classifications of pathogenicity
Health Risk
RS1450725934
Likely pathogenic
Health Risk
RS1575079076
Likely pathogenic
Multiple myeloma, Multiple myeloma
Health Risk
RS1575094649
Likely pathogenic
Intellectual disability, autosomal recessive 2, Intellectual disability
Health Risk
RS2126053905
Likely pathogenic
Health Risk
RS2126069389
Likely pathogenic
See cases, See cases
Health Risk
RS377356443
Likely pathogenic
Health Risk
RS797045036
Likely pathogenic
Intellectual disability, autosomal recessive 2, Intellectual disability
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918368 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 2, Intellectual disability |
| RS373145132 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541404259 | Health Risk | Conflicting classifications of pathogenicity | CRBN-related disorder, Intellectual disability, autosomal recessive 2 |
| RS776519022 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS78564552 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1450725934 | Health Risk | Likely pathogenic | — |
| RS1575079076 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1575094649 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 2, Intellectual disability |
| RS2126053905 | Health Risk | Likely pathogenic | — |
| RS2126069389 | Health Risk | Likely pathogenic | See cases, See cases |
| RS377356443 | Health Risk | Likely pathogenic | — |
| RS797045036 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 2, Intellectual disability |
| RS1226252969 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 2, Intellectual disability |
| RS1302797003 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 2, Intellectual disability |
| RS1706807912 | Health Risk | Pathogenic | — |
| RS1707782133 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 2, Intellectual disability |