| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | Genitopatellar syndrome | |
| | | Single nucleotide variant (nonsense) | Genitopatellar syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Genitopatellar syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Genitopatellar syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (splice acceptor variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type +2 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | KAT6B-Related Spectrum Disorders | |
| | | Deletion (frameshift variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (5 prime UTR variant +1 more) | KAT6B-Related Spectrum Disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Deletion (inframe_deletion) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |