| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Syndromic neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +1 more | |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of +1 more | |
| | | Single nucleotide variant (missense variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Corpus callosum, agenesis of | |
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