Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Feeding difficulties +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, moderate +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense) | Mandibuloacral dysplasia progeroid syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Noonan-like syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +15 more | GPathogenic/Likely pathogenic |
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