| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Osteodysplastic primordial dwarfism, type 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Roifman syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
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