| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | AP4M1, TAF6 (S631G +3 more) | Single nucleotide variant (missense variant +2 more) | Alazami-Yuan syndrome | |
| | AP4M1, TAF6 (S663del +3 more) | Deletion (inframe_deletion +2 more) | Alazami-Yuan syndrome | |
| | AP4M1, TAF6 (T590N +3 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Alazami-Yuan syndrome +1 more | GConflicting classifications of pathogenicity |
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