Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lissencephaly type 3 | |
| | | Single nucleotide variant (missense variant) | Lissencephaly type 3 | |
| | | Deletion (frameshift variant) | Lissencephaly type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +3 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly due to TUBA1A mutation | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tubulinopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Tubulinopathy-associated dysgyria +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
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