| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +7 more | |
| | | Single nucleotide variant (synonymous variant) | Hirschsprung disease, susceptibility to, 1 +6 more | |
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