| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Indel | Rare genetic deafness +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa 61 | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_indel +2 more) | Retinitis pigmentosa 61 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene