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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(D60N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(S71Y)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(G215E)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(Y246*)
Single nucleotide variant
(nonsense)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(M402T)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(I403M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GUncertain significance; drug response
RYR1
(S427L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
LOC129391106, RYR1
(M485V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
LOC129391106, RYR1
(E512K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RYR1
(A1577T)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(S1778*)
Single nucleotide variant
(nonsense)
RYR1-Related Disorders
GPathogenic
RYR1
(G1832A)
Single nucleotide variant
(missense variant)
Central core myopathy
GBenign
RYR1
(H2035L)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(G2060C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GBenign
RYR1
(R2163C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GPathogenic; drug response
RYR1
(R2163H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GPathogenic; drug response
RYR1
(N2283H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(R2452W)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GLikely pathogenic; drug response
RYR1
(I2453T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
(R2454H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GPathogenic; drug response
RYR1
(R2508C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely pathogenic
RYR1
(E2545D)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GUncertain significance
RYR1
(L2550V)
Single nucleotide variant
(missense variant)
Central core myopathy
GBenign
RYR1
(R2939K)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(splice donor variant)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(N3326K)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GLikely pathogenic
RYR1
(K3367R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely benign
RYR1
(C3402G)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+5 more
GConflicting classifications of pathogenicity
RYR1
(L3606P +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(A4329D +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(E4494* +1 more)
Single nucleotide variant
(nonsense)
Congenital myopathy with fiber type disproportion
Gnot provided
RYR1
(R4558Q +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(L4568P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RYR1
(Y4631N +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(E4634K +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RYR1
(T4637I +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GPathogenic
RYR1
(G4638S +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GLikely pathogenic
RYR1
(G4638D +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(L4650P +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GLikely pathogenic
RYR1
(H4651P +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+1 more
GConflicting classifications of pathogenicity
RYR1
(T4709M +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(K4724Q +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(L4793P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RYR1
(Y4796C +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GUncertain significance; drug response
RYR1
(L4814F +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(R4825C +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
(A4846V +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+2 more
GConflicting classifications of pathogenicity
RYR1
(N4858D +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(R4861C +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(Y4864C +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(H4887Y +1 more)
Single nucleotide variant
(missense variant)
RYR1-related condition
GLikely pathogenic
RYR1
(G4891R +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(R4893W +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GConflicting classifications of pathogenicity
RYR1
(R4893Q +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R4893P +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(G4897V +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(G4899E +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GPathogenic
RYR1
(A4906V +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GLikely pathogenic
RYR1
(R4914G +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(R4914T +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RYR1
(T4920N +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(F4921S +1 more)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
GLikely pathogenic
RYR1
Microsatellite
(inframe_deletion)
not provided
GLikely pathogenic
RYR1
(I4938M +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(A4940T +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
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