| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | APLP2, LINC02873
+169 more | Deletion | Anemia +7 more | |
Click to view in NCBI Gene