| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126861106, TUBGCP2 (R361C +2 more) | Single nucleotide variant (missense variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +1 more | |
| | LOC126861106, TUBGCP2 (R297C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
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