| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AP4B1, AP4B1-AS1 (P454L +2 more) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 47 +2 more | |
| | AP4B1, AP4B1-AS1 (C247Y +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 47 +2 more | |
| | AP4B1, AP4B1-AS1 (V180M +2 more) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 47 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
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