| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Sleep-related hypermotor epilepsy | |
| | | Deletion | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | PRIMA1-related disorder | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (nonsense) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Insertion (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion | Sleep-related hypermotor epilepsy | |
| | | Duplication | not provided | |
| | | Duplication | Achondrogenesis, type IA | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Deletion (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Sleep-related hypermotor epilepsy | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Inversion (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (nonsense) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy +1 more | |
| | | Deletion | DICER1-related tumor predisposition | |
| | | Indel (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (missense variant) | Sleep-related hypermotor epilepsy | |
| | | Single nucleotide variant (intron variant) | Sleep-related hypermotor epilepsy | |