| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | prenatal LIG4 syndrome with aqueductal stenosis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +2 more | |
| | | Indel (missense variant) | DNA ligase IV deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +2 more | |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to DCLRE1C deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +2 more | |
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