| | | Duplication (frameshift variant) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | |
| | | Indel (frameshift variant) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | |
| | | Insertion (inframe_indel) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Insertion (inframe_indel) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Insertion (inframe_indel) | Neuroblastoma, susceptibility to, 2 +1 more | |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Duplication (inframe_insertion) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion) | Neuroblastoma, susceptibility to, 2 +3 more | |
| | | Duplication (inframe_insertion) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Duplication (inframe_insertion) | not provided +3 more | |
| | | Duplication (splice acceptor variant) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease +2 more | |
| | | Deletion (inframe_deletion) | Neuroblastoma, susceptibility to, 2 +5 more | |
| | | Deletion (inframe_deletion) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Neuroblastoma, susceptibility to, 2 +6 more | |
| | | Microsatellite (inframe_insertion +1 more) | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease +2 more | |