| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Chromosome 2q32-q33 deletion syndrome | |
Click to view in NCBI Gene