| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | H3-3B-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Hemiparkinsonism-hemiatrophy syndrome | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |