| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126807619, NSD1 (G1501R +4 more) | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | LOC126807619, NSD1 (R1811* +5 more) | Single nucleotide variant (nonsense) | Sotos syndrome +1 more | |
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