| | | Copy number gain | See cases | |
| | AGAP2, AGAP2-AS1 +199 more | Copy number loss | See cases | |
| | AGAP2, AGAP2-AS1 +162 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Duplication (3 prime UTR variant) | Vitamin D-dependent rickets | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Vitamin D-dependent rickets, type 1A +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (frameshift variant) | Vitamin D-dependent rickets, type 1A +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple sclerosis, susceptibility to +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Vitamin D-dependent rickets, type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets, type 1A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |