| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Aplastic anemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Shwachman-Diamond syndrome 1 | |
| | | Microsatellite (frameshift variant) | Aplastic anemia +2 more | |
| | | Single nucleotide variant (splice donor variant) | not specified +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Shwachman-Diamond syndrome 1 +3 more | |
| | | Indel (nonsense) | Shwachman-Diamond syndrome 1 +4 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Inversion | Childhood apraxia of speech | |
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