| | | Deletion | Thalassemia, gamma-delta-beta | |
| | | Duplication (frameshift variant) | Intellectual disability-epilepsy-extrapyramidal syndrome | |
| | | Deletion (frameshift variant) | Intellectual disability-epilepsy-extrapyramidal syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual disability-epilepsy-extrapyramidal syndrome | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 24 | |
| | | Indel (frameshift variant +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability, autosomal dominant 24 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability-epilepsy-extrapyramidal syndrome | |