| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | 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 |
Click to view in NCBI Gene