| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Haddad syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Haddad syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital central hypoventilation +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Neuroblastoma, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
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