| | LOC130006238, LOC130006239 +184 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | DHCR7-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (stop lost) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (stop lost) | Smith-Lemli-Opitz syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | DHCR7-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | DHCR7-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Indel (frameshift variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Duplication (inframe_insertion) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |