| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CCDC51, LOC126806676 (R311S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CCDC51, LOC126806676 (L299F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CCDC51, LOC126806676 (R148C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CCDC51, LOC126806676 (Y221S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene