| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Metachromatic leukodystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +1 more | |
| | | Deletion (nonsense) | Metachromatic leukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Metachromatic leukodystrophy | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ARSA-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy, juvenile type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Metachromatic leukodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Metachromatic leukodystrophy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Metachromatic leukodystrophy | |