| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia | |
| | | Single nucleotide variant (missense variant) | CBL-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | CBL-related disorder | |
| | | Single nucleotide variant (missense variant) | RASopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | RASopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CBL-related disorder | |
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia +1 more | |
| | | Copy number gain | not provided | |
| | ARHGAP32, ARHGEF12
+177 more | Copy number gain | not provided | |
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