| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa 68 +1 more | |
| | SLC7A14, SLC7A14-AS1 (V390L) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 68 +1 more | |
| | SLC7A14, SLC7A14-AS1 (L416F) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 68 +1 more | |
| | SLC7A14, SLC7A14-AS1 (A132V) | Single nucleotide variant (missense variant) | Retinitis pigmentosa 68 | |
| | SLC7A14, SLC7A14-AS1 (C464F) | Single nucleotide variant (missense variant) | SLC7A14-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 68 | |
| | SLC7A14, SLC7A14-AS1 (G330R) | Single nucleotide variant (missense variant) | not provided +3 more | |
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