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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(N43T)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
GLikely pathogenic
RYR1
(E320K)
Single nucleotide variant
(missense variant)
Central core myopathy
+2 more
GConflicting classifications of pathogenicity
RYR1
(L417P)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GConflicting classifications of pathogenicity
RYR1
(G422R)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+7 more
GConflicting classifications of pathogenicity
RYR1
(P836fs)
Deletion
(frameshift variant)
Congenital multicore myopathy with external ophthalmoplegia
+4 more
GPathogenic/Likely pathogenic
RYR1
(R896Q)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
RYR1
(I1571V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely benign
RYR1
(R1999fs)
Deletion
(frameshift variant)
Malignant hyperthermia, susceptibility to, 1
GPathogenic
RYR1
(V2149M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
RYR1
(V2168M)
Single nucleotide variant
(missense variant)
succinylcholine response - Toxicity
+7 more
GPathogenic; drug response
RYR1
(D2389G)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(R3366H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely benign
RYR1
(R3702H +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(Y3928C)
Single nucleotide variant
(missense variant)
See cases
+8 more
GConflicting classifications of pathogenicity
RYR1
(T4637I +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GPathogenic
RYR1
(I4898T +1 more)
Single nucleotide variant
(missense variant)
succinylcholine response - Toxicity
+7 more
GUncertain significance; drug response
RYR1
(P4973L +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
Copy number loss
Congenital multicore myopathy with external ophthalmoplegia
GLikely pathogenic
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