| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | 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 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Hypogonadotropic hypogonadism 7 with or without anosmia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, demyelinating, IIA 1I +9 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) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor 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 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, demyelinating, IIA 1I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Pol III-related leukodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | | Single nucleotide variant (nonsense) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC100287944, POLR3B (S909R +1 more) | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | |
| | LOC100287944, POLR3B (N924D +1 more) | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +1 more | |
| | LOC100287944, POLR3B (Y1003C +1 more) | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | LOC100287944, POLR3B (L1012P +1 more) | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | LOC100287944, POLR3B (Y1058C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | POLR3B, LOC100287944 (M1062V +1 more) | Single nucleotide variant (missense variant) | Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | |
| | LOC100287944, POLR3B (I1106T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |