| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +4 more | |
| | | Single nucleotide variant (splice donor variant) | Sphingolipid activator protein 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Sphingolipid activator protein 1 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sphingolipid activator protein 1 deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Gaucher disease due to saposin C deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sphingolipid activator protein 1 deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Gaucher disease due to saposin C deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | Gaucher disease due to saposin C deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sphingolipid activator protein 1 deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Combined PSAP deficiency +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Sphingolipid activator protein 1 deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sphingolipid activator protein 1 deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Sphingolipid activator protein 1 deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined PSAP deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Sphingolipid activator protein 1 deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Gaucher disease due to saposin C deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Gaucher disease due to saposin C deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | Sphingolipid activator protein 1 deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Metachromatic leukodystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Gaucher disease due to saposin C deficiency +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Gaucher disease due to saposin C deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined PSAP deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | PSAP-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +5 more | |
| | | Single nucleotide variant (intron variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Gaucher disease due to saposin C deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Combined PSAP deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Combined PSAP deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined PSAP deficiency +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined PSAP deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Gaucher disease due to saposin C deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Gaucher disease due to saposin C deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Krabbe disease due to saposin A deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nonsyndromic Hearing Loss, Recessive +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined PSAP deficiency +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | PSAP-related condition +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | PSAP-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Sphingolipid activator protein 1 deficiency +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +10 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy | |
| | | Single nucleotide variant (nonsense) | Gaucher disease due to saposin C deficiency | |
| | | Single nucleotide variant (missense variant) | Gaucher disease due to saposin C deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease due to saposin C deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Gaucher disease due to saposin C deficiency | |