| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Epidermolytic nevus | |
| | | Insertion (5 prime UTR variant) | Vascular malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Large congenital melanocytic nevus +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome and Noonan-related syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
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