| | LOC128772343, SOX6 (G288E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC128772343, SOX6 (L290V) | Single nucleotide variant (missense variant) | Tolchin-Le Caignec syndrome | |
| | LOC128772343, SOX6 (R277Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Tolchin-Le Caignec syndrome | |
| | | Deletion (frameshift variant) | Tolchin-Le Caignec syndrome | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | Tolchin-Le Caignec syndrome | |
| | | Single nucleotide variant (missense variant) | Tolchin-Le Caignec syndrome | |
| | LOC128772343, SOX6 (F291L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC128772343, SOX6 (P293A) | Single nucleotide variant (missense variant) | not provided | |
| | LOC128772343, SOX6 (P292S) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Tolchin-Le Caignec syndrome | |
| | | Deletion (intron variant) | Tolchin-Le Caignec syndrome | |
| | LOC128772343, SOX6 (F291L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Tolchin-Le Caignec syndrome | |
| | | Single nucleotide variant (nonsense) | Tolchin-Le Caignec syndrome | |
| | LOC128772343, SOX6 (I271V) | Single nucleotide variant (missense variant) | not provided | |
| | LOC128772343, SOX6 (M264V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC128772343, SOX6 (P293S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC128772343, SOX6 (I295K) | Single nucleotide variant (missense variant) | not provided | |
| | LOC128772343, SOX6 (A281T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC128772343, SOX6 (R277W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC128772343, SOX6 (G294fs) | Duplication (frameshift variant) | Intellectual disability | |