| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +7 more | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 | |
Click to view in NCBI Gene