| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | | Indel (missense variant) | Dent disease type 1 | |
| | | Deletion (nonsense) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | LOC126863258, CLCN5 (E527* +2 more) | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (R589W +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (G633D +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (L640R +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
Click to view in NCBI Gene