| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Microsatellite (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | 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 (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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ANKRD11-related disorder | |
| | | Deletion (frameshift variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (nonsense) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Deletion (frameshift variant) | ANKRD11-related disorder | |
| | | Deletion (frameshift variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Deletion (frameshift variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder | |
| | | Deletion (frameshift variant) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ANKRD11-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | KBG syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Deletion | not provided | |
| | | Deletion | Hereditary spastic paraplegia 7 | |
| | | Deletion | KBG syndrome | |
| | | Duplication | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |