Links from Orgtrack
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Borjeson-Forssman-Lehmann syndrome | |
| | | Single nucleotide variant (nonsense) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Recurrent infections | |
| | | Single nucleotide variant (missense variant) | Ventricular fibrillation +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sick sinus syndrome 2, autosomal dominant +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dyskinesia with orofacial involvement, autosomal dominant +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epicanthus +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
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