| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant +1 more) | Microcephalic primordial dwarfism, Alazami type +1 more | |
| | | Deletion (splice acceptor variant) | Microcephalic primordial dwarfism, Alazami type | |
| | LARP7, MIR302CHG (A169fs +1 more) | Duplication (non-coding transcript variant +1 more) | Microcephalic primordial dwarfism, Alazami type | |
| | LARP7, MIR302CHG (E185* +2 more) | Duplication (nonsense) | Microcephalic primordial dwarfism, Alazami type | |
| | LARP7, MIR302CHG (K363fs +4 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
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