| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | UBR4-associated neurodevelopmental syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Lowry-Wood syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Laron-type isolated somatotropin defect +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | SBDS-related condition +11 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Short stature | |
| | | Single nucleotide variant (missense variant +1 more) | Ventricular septal defect +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
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