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
Single nucleotide variant
(synonymous variant)
Congenital multicore myopathy with external ophthalmoplegia
+1 more
GConflicting classifications of pathogenicity
RYR1
Duplication
(inframe_insertion)
Central core myopathy
GUncertain significance