| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 7 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 7 | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive osteopetrosis 7 | |
| | TNFRSF11A (S497fs +1 more) | Duplication (frameshift variant +1 more) | Autosomal recessive osteopetrosis 7 | |
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