| | | Deletion | Dent disease type 1 | |
| | LOC130068287, MIR188
+9 more | Deletion | Dent disease type 1 | |
| | | Deletion | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | CLCN5-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +5 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure | |
| | LOC126863258, CLCN5 (G513R +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (R516W +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (K546R +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (W547G +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (R637* +2 more) | Single nucleotide variant (nonsense) | not provided +5 more | |
| | CLCN5, LOC126863258 (R648* +2 more) | Single nucleotide variant (nonsense) | Dent disease type 1 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Variation | Dent disease type 1 | |