| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Copy number gain | Hypoplasia of scrotum +5 more | |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
Click to view in NCBI Gene