| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive osteopetrosis 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 1 | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive osteopetrosis 1 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive osteopetrosis 1 | |
Click to view in NCBI Gene