| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Autosomal recessive osteopetrosis 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal dominant osteopetrosis 2 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Hypopigmentation, organomegaly, and delayed myelination and development +1 more | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
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