| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability, autosomal dominant 24 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 24 | |
| | C11orf40, C11orf42
+243 more | Copy number gain | Silver-Russell syndrome 1 | |
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