Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | |
| | | Deletion (nonsense) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene