| | | Single nucleotide variant (splice donor variant) | tegafur response - Toxicity +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +6 more | |
| | | 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 2A +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +7 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +6 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +2 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 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 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 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Multiple endocrine neoplasia, type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +6 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia type 2A +7 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial medullary thyroid carcinoma +7 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Familial medullary thyroid carcinoma +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +3 more | |