| | | 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) | not specified | |
| | | 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) | Aganglionic megacolon +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA +7 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aganglionic megacolon +2 more | |
| | | Single nucleotide variant (missense variant) | Oligodontia-cancer predisposition syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 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) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | LOC110121502, MCS+9.7 +1 more | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 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 | |
| | | Single nucleotide variant (missense variant) | Multiple endocrine neoplasia, type 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |