| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Neonatal pseudo-hydrocephalic progeroid syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | GConflicting classifications of pathogenicity |
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