| | | Single nucleotide variant (missense variant) | Hemangioma +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | ATP6V1B1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Hypercalcemia, infantile, 2 +3 more | |
| | | Single nucleotide variant (missense variant) | SLC34A1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Nephrocalcinosis +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nephrocalcinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Renal tubular acidosis with progressive nerve deafness +1 more | |
| | | Single nucleotide variant (missense variant) | Primary hypomagnesemia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type I +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |