Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hand tremor +4 more | |
| | | Single nucleotide variant (missense variant) | Proximal amyotrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Proximal amyotrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral arteriovenous malformation +3 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, childhood absence, susceptibility to, 6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arteriovenous malformation +10 more | |
| | | Deletion (frameshift variant) | Macrocephaly +4 more | |
| | | Single nucleotide variant (missense variant) | ANKRD11-related disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hand tremor +2 more | |
| | | Duplication (frameshift variant) | not provided +12 more | |
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