| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Kleefstra syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Kleefstra syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
Click to view in NCBI Gene