Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Sphingolipid activator protein 1 deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Parkinson disease 24, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease 24, autosomal dominant, susceptibility to | |
| | | Single nucleotide variant (missense variant) | Parkinson disease 24, autosomal dominant, susceptibility to | |
| | | 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) | Gaucher disease due to saposin C deficiency +5 more | |
| | | Deletion (inframe_deletion) | Metachromatic leukodystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Krabbe disease due to saposin A deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Parkinson disease 24, autosomal dominant, susceptibility to +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene