| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inguinal hernia +12 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Congenital hip dislocation +3 more | |
| | | Single nucleotide variant (intron variant) | Qualitative or quantitative defects of collagen 6 +11 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene