U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(Q3900H +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GLikely pathogenic
RYR1
(R5030H +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+2 more
GUncertain significance