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Links from MedGen

Items: 1 to 100 of 538

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(G4930D +1 more)
Single nucleotide variant
(missense variant)
King Denborough syndrome
+3 more
GPathogenic
RYR1, LOC126862902
(H3976Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital multicore myopathy with external ophthalmoplegia
GPathogenic
RYR1
(I2167S)
Single nucleotide variant
(missense variant)
King Denborough syndrome
GLikely pathogenic
RYR1
(R2624P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GUncertain significance
RYR1
(T214A)
Single nucleotide variant
(missense variant)
Central core myopathy
+4 more
GUncertain significance
RYR1
Single nucleotide variant
(intron variant)
Central core myopathy
+5 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
Central core myopathy
+5 more
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
Central core myopathy
+5 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
Central core myopathy
+5 more
GLikely benign
RYR1
(R1618H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
(E4385K +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
(E2347K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
(R1420C)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
(V1042M)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(P3297S)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(T2543I)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
(R3499W +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(P1763L)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(W275C)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
Single nucleotide variant
(splice acceptor variant)
Central core myopathy
+6 more
GConflicting classifications of pathogenicity
RYR1
(G4396R +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(P4105R +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(R1964H)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(K3492Q +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(I1717S)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(K374del)
Microsatellite
(inframe_deletion)
Central core myopathy
+5 more
GUncertain significance
RYR1
(W1276R)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(N1559fs)
Duplication
(frameshift variant)
RYR1-related disorder
+5 more
GPathogenic/Likely pathogenic
RYR1
(D329N)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(D4587N +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(L3003F)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(E1869D)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
LOC130064357, RYR1
(H4422Y +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(P1795L)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(A2287D)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(A2598G)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
Duplication
(inframe_insertion)
Central core myopathy
+5 more
GUncertain significance
RYR1
(G4099S +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(T656M)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(E3440K)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(T692A)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(T1545A)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(E4190D +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(R2385C)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(R316H)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(N4200I +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(R1019Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
Duplication
(inframe_insertion)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(E4385Q +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(P3244L)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(N1124S)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(P4517H +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Congenital multicore myopathy with external ophthalmoplegia
+5 more
GLikely benign
RYR1
(I4812V +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
Single nucleotide variant
(splice donor variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(E3290K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(V1000M)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+5 more
GUncertain significance
RYR1
(Y246C)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(V4624M +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
RYR1
(A4299T +1 more)
Single nucleotide variant
(missense variant)
King Denborough syndrome
+6 more
GUncertain significance
RYR1
(V2102L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(G40A)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(R795H)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
(S3171R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
(R2575C)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+5 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Central core myopathy
+5 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GLikely benign
RYR1
(C4659R +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
LOC129391106, RYR1
Single nucleotide variant
(synonymous variant)
King Denborough syndrome
+6 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
RYR1
(R896W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
(M1285V)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
(D2968E)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(M1169V)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(M3266L)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(P1018A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RYR1
(K4676Q +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(P1055R)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(A54E)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
LOC129391106, RYR1
(R492H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(D4864A +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
RYR1
(A4643T +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(N3643H +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(R3763W +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(A4270T +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(P4522S +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(G705R)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
Central core myopathy
+5 more
GConflicting classifications of pathogenicity
RYR1
(E1220K)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(D3102G)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(R2415G)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(E4005K +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(A1356T)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
(R2385H)
Single nucleotide variant
(missense variant)
Central core myopathy
+6 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
+5 more
GLikely benign
RYR1
(E4247Q +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+5 more
GUncertain significance
RYR1
(R3093H)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+7 more
GUncertain significance
RYR1
(V4850L +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
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