| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC125387319, LOC125387320 +1024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKRD60, APCDD1L +175 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066376, LOC130066377 +464 more | Copy number gain | See cases | |
| | LOC132090595, LOC132090596 +355 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | Hirschsprung Disease, Dominant | |
| | | Single nucleotide variant | Hirschsprung Disease, Dominant | |
| | | Single nucleotide variant | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided +2 more | |
| | | Microsatellite (inframe_deletion) | EDN3-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Duplication (frameshift variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Indel (frameshift variant) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (missense variant) | Sensorineural hearing loss disorder | |
| | | Single nucleotide variant (missense variant) | EDN3-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | EDN3-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | EDN3-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Waardenburg syndrome type 4B | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hirschsprung disease, susceptibility to, 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | Hirschsprung Disease, Dominant +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hirschsprung disease, susceptibility to, 4 | |