Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypotonia +5 more | GPathogenic/Likely pathogenic |
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