| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (5 prime UTR variant +1 more) | Cone-rod dystrophy and hearing loss 2 | |
| | CEP250, CEP250-AS1 (Q499fs) | Indel (non-coding transcript variant +2 more) | Cone-rod dystrophy and hearing loss 2 | |
| | CEP250, CEP250-AS1 (Q504*) | Single nucleotide variant (non-coding transcript variant +2 more) | Cone-rod dystrophy and hearing loss 2 | |
| | CEP250, CEP250-AS1 (R87* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | CEP250, CEP250-AS1 (R736* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy and hearing loss 2 | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy and hearing loss 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Cone-rod dystrophy and hearing loss 2 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Indel (frameshift variant) | Cone-rod dystrophy and hearing loss 2 +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy and hearing loss 2 | |
Click to view in NCBI Gene