| | LOC123497907, LOC123497908 +1445 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993840, LOC129993841 +952 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807367, LOC126807368 +254 more | Copy number gain | See cases | |
| | ANXA2R, ANXA2R-AS1 +245 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Deletion (3 prime UTR variant) | Hirschsprung Disease, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Deletion (3 prime UTR variant) | Hirschsprung Disease, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | not provided +1 more | |
| | | Deletion (3 prime UTR variant) | Hirschsprung Disease, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Deletion (inframe_deletion) | Hirschsprung disease, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | GDNF-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GDNF-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 3 | |