| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126807619, NSD1 (W1770* +5 more) | Single nucleotide variant (nonsense) | Sotos syndrome +1 more | |
| | LOC126807619, NSD1 (G1792E +5 more) | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | LOC126807619, NSD1 (L1797P +5 more) | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | LOC126807619, NSD1 (F1798fs +1 more) | Deletion (frameshift variant) | Sotos syndrome | |
| | LOC126807619, NSD1 (Y1535* +1 more) | Duplication (frameshift variant +1 more) | Sotos syndrome | |
| | | Indel | Sotos syndrome | |
| | LOC126807619, NSD1 (T1807P +5 more) | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | LOC126807619, NSD1 (Q1809* +5 more) | Single nucleotide variant (nonsense) | Sotos syndrome | |
| | LOC126807619, NSD1 (R1811* +5 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | LOC126807619, NSD1 (R1811Q +5 more) | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | LOC126807619, NSD1 (D1824G +5 more) | Single nucleotide variant (missense variant) | Sotos syndrome | |
Click to view in NCBI Gene