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Items: 1 to 100 of 259

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(L32F)
Single nucleotide variant
(missense variant)
RYR1-related condition
+3 more
GConflicting classifications of pathogenicity
RYR1
(R44C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GLikely pathogenic; drug response
RYR1
(T51N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(A54V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
(T148I)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+8 more
GConflicting classifications of pathogenicity
RYR1
Deletion
(inframe_deletion)
not provided
GUncertain significance
RYR1
(E176K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
(T214M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R282Q)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GUncertain significance
RYR1
Deletion
(splice donor variant)
RYR1-Related Disorders
+4 more
GUncertain significance
RYR1
(G341R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GPathogenic
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GBenign
RYR1
(P363S)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+5 more
GUncertain significance
RYR1
(R391H)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+7 more
GUncertain significance
LOC129391106, RYR1
(M485V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
LOC129391106, RYR1
(A511D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
(R533H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GBenign
RYR1
(S604P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RYR1
(R614L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GPathogenic; drug response
RYR1
(R644H)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GConflicting classifications of pathogenicity
RYR1
(D708N)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related condition
+4 more
GConflicting classifications of pathogenicity
RYR1
(N759D)
Single nucleotide variant
(missense variant)
RYR1-related condition
+9 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GBenign
RYR1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+4 more
GBenign/Likely benign
RYR1
(P836fs)
Deletion
(frameshift variant)
RYR1-Related Disorders
+4 more
GPathogenic/Likely pathogenic
RYR1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
RYR1
(E879K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RYR1
(G893S)
Single nucleotide variant
(missense variant)
RYR1-related condition
+6 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-Related Disorders
+6 more
GConflicting classifications of pathogenicity
RYR1
(R896Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GUncertain significance
RYR1
Single nucleotide variant
(intron variant)
RYR1-Related Disorders
+6 more
GBenign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GBenign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
(R999H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
(R1016Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
RYR1
(D1036E)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GConflicting classifications of pathogenicity
RYR1
(R1043C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(P1059S)
Single nucleotide variant
(missense variant)
King Denborough syndrome
+7 more
GUncertain significance
RYR1
(R1070W)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+6 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+7 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
Deletion
(nonsense)
RYR1-Related Disorders
+1 more
GPathogenic
RYR1
(S1342G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GBenign
RYR1
(N1346K)
Single nucleotide variant
(missense variant)
Neuromuscular disease, congenital, with uniform type 1 fiber
+5 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+7 more
GBenign/Likely benign
RYR1
(G1359fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
(R1371S)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+2 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(intron variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
(K1393R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GBenign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
King Denborough syndrome
+6 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+8 more
GBenign/Likely benign
RYR1
(I1571V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+4 more
GConflicting classifications of pathogenicity
RYR1
(R1667C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GBenign
RYR1
(R1670H)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+6 more
GUncertain significance
RYR1
(A1674T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RYR1
(R1679H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
(R1707H)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
(S1770L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
(P1779L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+3 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+2 more
GConflicting classifications of pathogenicity
RYR1
(V1830I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign/Likely benign
RYR1
(E1878D)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+6 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+6 more
GConflicting classifications of pathogenicity
RYR1
(E1891del)
Microsatellite
(inframe_deletion)
RYR1-Related Disorders
+3 more
GBenign/Likely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+5 more
GBenign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
RYR1
(G2060C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GBenign
RYR1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RYR1
(M2120T)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GConflicting classifications of pathogenicity
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