| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | MOG-related disorder | |
| | | Single nucleotide variant (missense variant) | MOG-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | MOG-related disorder | |
| | | Microsatellite (inframe deletion +1 more) | MOG-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | MOG-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | Megacolon | |
| | | Duplication (intron variant) | Narcolepsy 7 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Narcolepsy 7 | |