| | | Single nucleotide variant (genic upstream transcript variant +2 more) | Mucopolysaccharidosis, MPS-I-S +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hurler syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Mucopolysaccharidosis, MPS-I-S +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Mucopolysaccharidosis type 1 +4 more | GBenign/Likely benign; other |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Mucopolysaccharidosis type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mucopolysaccharidosis type 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Calcium oxalate urolithiasis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperoxaluria +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SLC26A1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Calcium oxalate urolithiasis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Calcium oxalate urolithiasis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |