| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Multiple endocrine neoplasia +8 more | |
| | | Single nucleotide variant (intron variant) | Hirschsprung disease, susceptibility to, 1 +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 1 +9 more | GConflicting classifications of pathogenicity |
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