| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | |
| | | Deletion | Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | |
| | CPSF3, LOC105373418
+23 more | Deletion | Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | |
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