| | | Single nucleotide variant (intron variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (nonsense) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (intron variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |
| | | Single nucleotide variant (missense variant) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | |