| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Autoimmune lymphoproliferative syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Familial cancer of breast +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | LEOPARD syndrome 3 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Melanoma, cutaneous malignant, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Cardio-facio-cutaneous syndrome | |
| | | Single nucleotide variant (intron variant) | RASopathy +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
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