| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | King Denborough syndrome +4 more | |
| | LOC129391106, RYR1 (M485V) | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | LOC129391106, RYR1 (E512K) | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene