| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant | Osteopetrosis with renal tubular acidosis | |
| | | Duplication | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Osteopetrosis with renal tubular acidosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Osteopetrosis with renal tubular acidosis | |
Click to view in NCBI Gene