| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia +8 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2B +8 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2B +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +9 more | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +5 more | GConflicting classifications of pathogenicity |