| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | CCT5-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy with spastic paraplegia | |
| | | Copy number loss | 5p partial monosomy syndrome | |
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