| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Duplication (frameshift variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Chromosome 2q32-q33 deletion syndrome | |
Click to view in NCBI Gene