| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Duplication (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Duplication (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Duplication (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Deletion (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Deletion (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Deletion (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Deletion (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Microsatellite (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Deletion (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Microsatellite (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Deletion (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | VDR-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | VDR-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets type II with alopecia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |