| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CNGA1, LOC101927157 (Y539*) | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC101927157, CNGA1 (K344R) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CNGA1, LOC101927157 (Y302H) | Single nucleotide variant (missense variant) | not provided | |
| | CNGA1, LOC101927157 (V202I) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +1 more | GConflicting classifications of pathogenicity |
| | CNGA1, LOC101927157 (D114N) | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | CNGA1, LOC101927157 (G60V) | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
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