| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1-AS1, PTPN22 (H370N +2 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | AP4B1, AP4B1-AS1 (K543Q +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 | |
| | AP4B1, AP4B1-AS1 (G568D +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (N245H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 47 +1 more | |
| | AP4B1, AP4B1-AS1 (L222fs +2 more) | Deletion (non-coding transcript variant +1 more) | not provided +1 more | |
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