| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Deletion | 15q22.2 deletion syndrome | |
| | | Single nucleotide variant | not provided | |