| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AP2M1, LOC123453202 (Q28H) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | AP2M1, LOC123453202 (S38P) | Single nucleotide variant (missense variant +1 more) | AP2M1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | AP2M1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder 60 with seizures +2 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder 60 with seizures +2 more | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder 60 with seizures +2 more | |
Click to view in NCBI Gene