| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GUCA1A, GUCA1ANB-GUCA1A (R40C) | Single nucleotide variant (missense variant) | GUCA1A-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | GUCA1A-related disorder +1 more | |
| | GUCA1A, GUCA1ANB-GUCA1A
+1 more | Single nucleotide variant (synonymous variant) | Retinitis Pigmentosa, Dominant +4 more | |
| | | Single nucleotide variant (synonymous variant) | GUCA1A-related disorder +2 more | |
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