| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 1 +10 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital central hypoventilation +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | Medullary thyroid carcinoma +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | GConflicting classifications of pathogenicity |
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