| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CA4-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CA4-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | CA4-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene