| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, demyelinating, IIA 1I +9 more | GPathogenic/Likely pathogenic |
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