| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome | |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more | |
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