| | | Single nucleotide variant (nonsense) | Hypophosphatemic rickets, X-linked recessive +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | X-linked recessive nephrolithiasis with renal failure +4 more | |
| | | Single nucleotide variant (missense variant) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +4 more | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, X-linked recessive +4 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +5 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | X-linked recessive nephrolithiasis with renal failure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Dent disease type 1 +4 more | |
| | | Deletion (frameshift variant) | X-linked recessive nephrolithiasis with renal failure +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Dent disease type 1 +3 more | |
| | CLCN5, LOC126863258 (R637* +2 more) | Single nucleotide variant (nonsense) | not provided +5 more | |
| | CLCN5, LOC126863258 (I660V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | CLCN5, LOC126863258 (T683M +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | CLCN5, LOC126863258 (E734A +2 more) | Single nucleotide variant (missense variant) | Hypophosphatemic rickets, X-linked recessive +5 more | |
| | CLCN5, LOC126863258 (V699I +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | CLCN5, LOC126863258 (C711S +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Hypophosphatemic rickets, X-linked recessive +4 more | |