| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Duplication (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (splice donor variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (intron variant) | Hypomyelination and Congenital Cataract +1 more | |
| | | Deletion | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (nonsense) | Hypomyelination and Congenital Cataract | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract +1 more | |
| | | Single nucleotide variant (nonsense) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (synonymous variant) | Hypomyelination and Congenital Cataract | |
| | | Single nucleotide variant (missense variant) | Hypomyelination and Congenital Cataract +2 more | |