| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | TBC1D7, TBC1D7-LOC100130357 (V204fs +2 more) | Duplication (frameshift variant) | Macrocephaly | |
| | | Single nucleotide variant (missense variant) | Abnormality of the face +18 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene