| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Tall stature-scoliosis-macrodactyly of the great toes syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 1, Maroteaux type +2 more | |
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