| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (splice donor variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Microsatellite (frameshift variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | |
Click to view in NCBI Gene