| | | Single nucleotide variant (missense variant) | Farber lipogranulomatosis +1 more | |
| | | Deletion (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Farber lipogranulomatosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Farber lipogranulomatosis +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Farber lipogranulomatosis +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | ASAH1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |