| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Duplication (frameshift variant) | Sotos syndrome | |
| | | Deletion (frameshift variant) | Sotos syndrome | |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +1 more | |
| | LOC126807619, NSD1 (R1778* +5 more) | Single nucleotide variant (nonsense) | Neurodevelopmental delay +3 more | |
| | | Microsatellite (frameshift variant +1 more) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | GConflicting classifications of pathogenicity |
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