| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |