| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LARP7, MIR302CHG (L107del +1 more) | Deletion (inframe_deletion) | not provided | |
| | LARP7, MIR302CHG (E217D +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LARP7, MIR302CHG (R279fs +2 more) | Duplication (frameshift variant) | Microcephalic primordial dwarfism, Alazami type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MIR302CHG, LARP7 (I255T +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | LARP7, MIR302CHG (H362fs +4 more) | Deletion (frameshift variant) | not provided | GPathogenic/Likely pathogenic |
| | LARP7, MIR302CHG (E304* +4 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number gain | not provided | |
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