| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Spastic paraplegia 84, autosomal recessive +1 more | |
| | | Deletion (frameshift variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (nonsense) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (missense variant +1 more) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis +1 more | |
| | | Duplication (frameshift variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (nonsense) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | |
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