| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Growth delay due to insulin-like growth factor I resistance | |
| | IGF1R, LOC126862245 (Q348*) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | IGF1R, LOC126862245 (R365*) | Single nucleotide variant (nonsense) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Intellectual disability +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Growth delay due to insulin-like growth factor I resistance | |
| | | Single nucleotide variant (missense variant) | Growth delay due to insulin-like growth factor I resistance | |
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