| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +31 more | |
| | | Single nucleotide variant (missense variant) | Laron-type isolated somatotropin defect +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +2 more | |
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