| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (synonymous variant) | Dent disease type 1 | |
| | | Duplication (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (G512D +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +1 more | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Microsatellite (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (intron variant) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +4 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | |
| | CLCN5, LOC126863258 (I660V +2 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | GConflicting classifications of pathogenicity |
| | CLCN5, LOC126863258 (F576fs +2 more) | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (splice donor variant) | Hypophosphatemic rickets, X-linked recessive +3 more | |
| | | Single nucleotide variant (splice donor variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Deletion (frameshift variant) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +3 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (C711S +2 more) | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, X-linked recessive +3 more | |
| | | Duplication (frameshift variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (Y534N +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (T683M +2 more) | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, X-linked recessive +4 more | |
| | | Deletion (frameshift variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (T676fs +2 more) | Deletion (frameshift variant) | Dent disease type 1 | |
| | | Microsatellite (frameshift variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (L591fs +2 more) | Microsatellite (frameshift variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (S520fs +2 more) | Duplication (frameshift variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (W567C +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, X-linked recessive +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | X-linked recessive nephrolithiasis with renal failure +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (P715S +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Dent disease type 1 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | |
| | CLCN5, LOC126863258 (E734A +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (nonsense) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +4 more | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 | |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dent disease type 1 | |