| | | Single nucleotide variant (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (splice donor variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | 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 | |
| | | Deletion | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (frameshift 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) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (splice donor variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Indel (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Indel (frameshift variant +3 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Smith-Lemli-Opitz syndrome | |
| | | Indel (missense variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (frameshift variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (nonsense +3 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (splice donor variant) | Smith-Lemli-Opitz syndrome | |
| | | Deletion | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (frameshift variant) | Hypothyroidism due to TSH receptor mutations +1 more | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Duplication (frameshift variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | 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 (splice donor variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Deletion (inframe_indel) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | 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 (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (nonsense) | Smith-Lemli-Opitz syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (nonsense) | 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 (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | 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 (synonymous variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (intron variant) | Smith-Lemli-Opitz syndrome | |