| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Mulibrey nanism syndrome +1 more | |
| | | Duplication (frameshift variant +1 more) | Mulibrey nanism syndrome | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | Mulibrey nanism syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Mulibrey nanism syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Mulibrey nanism syndrome +1 more | GConflicting classifications of pathogenicity |
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