| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Kleefstra syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Kleefstra syndrome 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Kleefstra syndrome 1 +5 more | |
| | | Copy number gain | Hypotonia +2 more | |
Click to view in NCBI Gene