CEP83 Chromosome 12
Centrosomal protein 83
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What This Gene Does
The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
Associated Conditions (5)
Nephronophthisis 18
CEP83-related disorder
Inborn genetic diseases
Ciliopathy
Nephronophthisis
Key Variants
RS1370476857
Conflicting classifications of pathogenicity
Nephronophthisis 18, Nephronophthisis 18
Health Risk
RS150415429
Conflicting classifications of pathogenicity
Nephronophthisis 18, CEP83-related disorder, Nephronophthisis 18
Health Risk
RS181264654
Conflicting classifications of pathogenicity
Nephronophthisis 18, Nephronophthisis 18
Health Risk
RS199617764
Conflicting classifications of pathogenicity
Nephronophthisis 18, Inborn genetic diseases, CEP83-related disorder
Health Risk
RS199871798
Conflicting classifications of pathogenicity
Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18
Health Risk
RS200232390
Conflicting classifications of pathogenicity
Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18
Health Risk
RS200971081
Conflicting classifications of pathogenicity
Nephronophthisis 18, Ciliopathy, Nephronophthisis 18
Health Risk
RS562683007
Conflicting classifications of pathogenicity
Nephronophthisis 18, Nephronophthisis 18
Health Risk
RS577668407
Conflicting classifications of pathogenicity
Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18
Health Risk
RS748658606
Conflicting classifications of pathogenicity
Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18
Health Risk
RS757301110
Conflicting classifications of pathogenicity
Nephronophthisis 18, Nephronophthisis 18
Health Risk
RS765908199
Conflicting classifications of pathogenicity
Nephronophthisis 18, Nephronophthisis 18
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1370476857 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Nephronophthisis 18 |
| RS150415429 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, CEP83-related disorder, Nephronophthisis 18 |
| RS181264654 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Nephronophthisis 18 |
| RS199617764 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Inborn genetic diseases, CEP83-related disorder |
| RS199871798 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18 |
| RS200232390 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18 |
| RS200971081 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Ciliopathy, Nephronophthisis 18 |
| RS562683007 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Nephronophthisis 18 |
| RS577668407 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18 |
| RS748658606 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Inborn genetic diseases, Nephronophthisis 18 |
| RS757301110 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Nephronophthisis 18 |
| RS765908199 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Nephronophthisis 18 |
| RS906852829 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 18, Nephronophthisis 18 |
| RS1555237944 | Health Risk | Likely pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2541088913 | Health Risk | Likely pathogenic | — |
| RS2541287399 | Health Risk | Likely pathogenic | Ciliopathy, Ciliopathy |
| RS763352069 | Health Risk | Likely pathogenic | — |
| RS1064794347 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1162641847 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1187876547 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1198459012 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1207804224 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1216945458 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1276979881 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS1437433749 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2061111812 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2061113374 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2063356920 | Health Risk | Pathogenic | — |
| RS2136488957 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2136514301 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2136515432 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2137174483 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2137575733 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2541064312 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2541088599 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2541287551 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS2541678147 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS368619022 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS587777486 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS587777487 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS587777488 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS750092874 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS763560797 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS777412559 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS780500128 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis, Nephronophthisis 18 |
| RS879255575 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS879255576 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS922686745 | Health Risk | Pathogenic | Nephronophthisis 18, Nephronophthisis 18 |
| RS369483167 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 18, Nephronophthisis 18 |