| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Generalized epilepsy with febrile seizures plus, type 1 | |
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