U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1S
Single nucleotide variant
(splice donor variant)
Malignant hyperthermia, susceptibility to
GLikely pathogenic
RYR1
(A2428T)
Single nucleotide variant
(missense variant)
desflurane response - Toxicity
+7 more
GLikely pathogenic; drug response
RYR1
(T2206M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GPathogenic
Format
Sort by
Choose Destination