| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (nonsense) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (missense variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Indel (inframe_indel) | Vitamin D hydroxylation-deficient rickets, type 1B | |
| | | Duplication (frameshift variant) | Vitamin D hydroxylation-deficient rickets, type 1B +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Vitamin D hydroxylation-deficient rickets, type 1B | |
| | | Single nucleotide variant (missense variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Vitamin D hydroxylation-deficient rickets, type 1B +2 more | |
| | | Single nucleotide variant (missense variant) | Vitamin D hydroxylation-deficient rickets, type 1B | |
| | | Single nucleotide variant (intron variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Vitamin D hydroxylation-deficient rickets, type 1B +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |