| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | |
| | LOC126806932, PCYT1A (N130S) | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
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