| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | ANKRD54, BAIAP2L2
+50 more | Deletion | Emery-Dreifuss muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | ANKRD54, BAIAP2L2
+29 more | Deletion | not provided | |
| | | Duplication | Adenylosuccinate lyase deficiency | |
Click to view in NCBI Gene