| | | Single nucleotide variant (nonsense +1 more) | Aganglionic megacolon | |
| | EDNRB, EDNRB-AS1 (L277R +1 more) | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | EDNRB, EDNRB-AS1 (E410Q +1 more) | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (nonsense) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 47 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +2 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (synonymous variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | LOC105378311, PCDH15 (D47N +1 more) | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Deletion (frameshift variant) | Aganglionic megacolon | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (nonsense) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication | Hirschsprung Disease, Dominant +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (missense variant) | RET-related condition +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | AXIN2-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +8 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | RET-related condition +9 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) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | LOC110121502, MCS+9.7 +1 more | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Familial medullary thyroid carcinoma +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon +5 more | |