| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
Click to view in NCBI Gene