| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | SEC61A1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | SEC61A1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SEC61A1-related condition +1 more | |
| | RUVBL1, SEC61A1 (G393R +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
Click to view in NCBI Gene