| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130002899, SURF1 (S27G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene