Table 1.
EMHG-1* | EMHG-2** | OTHER1*** | OTHER2**** |
---|---|---|---|
C35R | L13R | R1043C | S1342G |
R163C | M226K | S3217P | A1352G |
G248R | R367L | R3772W | E2880K |
G341R | D544Y | I4938T | G3806R |
I403M | R2336H | P4501L | |
Y522S | R2676W | ||
R614C | D2730G | ||
R614L | |||
V2168M | |||
T2206M | |||
A2350T | |||
G2375A | |||
R2435H | |||
R2458C | |||
R2458H | |||
T4826I | |||
R4861H | |||
I4898T |
Mutations functionally proven to be disease-causing by the European Malignant Hyperthermia Group (EMHG)
Variants that have met certain EMHG criteria for pathogenicity but are still being validated
Variants recently reported as associated with MHS but not yet validated as disease-causing
Variants recently reported that are likely to be neutral polymorphisms