| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 +1 more | |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene