| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130005987, SAC3D1 (L185F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005987, SAC3D1 (Y189N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005987, SAC3D1 (Y189C) | Single nucleotide variant (missense variant) | not specified | |
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