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Links from MedGen

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(W1131G)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(N3839I +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(D3837H +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
LOC126862902, RYR1
(E2853K)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(R3366H +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
GLikely pathogenic
RYR1
(A1352T)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(C2656*)
Single nucleotide variant
(nonsense)
Central core myopathy
GLikely pathogenic
RYR1
Single nucleotide variant
(splice acceptor variant)
Central core myopathy
GLikely pathogenic
RYR1
(V667fs)
Duplication
(frameshift variant)
Central core myopathy
GLikely pathogenic
RYR1
(V1122fs)
Deletion
(frameshift variant)
Central core myopathy
GLikely pathogenic
LOC129391106, RYR1
Single nucleotide variant
(splice acceptor variant)
Central core myopathy
GLikely pathogenic
RYR1
Single nucleotide variant
(splice donor variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
RYR1
(G4450R +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(V613L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GUncertain significance
RYR1
(V938L)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(P2560L)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(R3337L)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(A2428S)
Single nucleotide variant
(missense variant)
Central core myopathy
GLikely pathogenic
RYR1
(G4930D +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+3 more
GPathogenic
RYR1
(I3484fs)
Duplication
(frameshift variant +1 more)
Central core myopathy
+1 more
GPathogenic/Likely pathogenic
RYR1
(H4808R +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GLikely pathogenic
RYR1, LOC126862902
(H3976Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital multicore myopathy with external ophthalmoplegia
GPathogenic
RYR1
(M4875K +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(P2114T)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(N4860S +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(F1528I)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(H3770D +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(H112Y)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GUncertain significance
RYR1
(A4620T +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
Deletion
(nonsense)
Central core myopathy
GLikely pathogenic
RYR1
(C3304R)
Single nucleotide variant
(missense variant)
Central core myopathy
GLikely pathogenic
RYR1
(L3618R +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(R2985*)
Single nucleotide variant
(nonsense)
RYR1-related disorder
+1 more
GPathogenic/Likely pathogenic
RYR1
(H878R)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GConflicting classifications of pathogenicity
RYR1
(G3254R)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(N918S)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(K4861E +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GLikely pathogenic
RYR1
(I2476F)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(S4862G +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(L2332R)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(E3579del +1 more)
Microsatellite
(inframe_deletion)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(T2271fs)
Deletion
(frameshift variant)
Central core myopathy
GPathogenic
LOC129391106, RYR1
(T498S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RYR1
(D2389G)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
(R3702H +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
RYR1
Single nucleotide variant
(splice acceptor variant)
Central core myopathy
GLikely pathogenic
RYR1
(S3116fs)
Deletion
(frameshift variant)
RYR1-related disorder
GPathogenic
RYR1
(R3337W)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+2 more
GUncertain significance
RYR1
Duplication
(inframe_insertion)
Central core myopathy
GUncertain significance
RYR1
(Q3900H +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GLikely pathogenic
RYR1
Single nucleotide variant
(synonymous variant)
Congenital multicore myopathy with external ophthalmoplegia
+1 more
GUncertain significance
RYR1
(F3648Y +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GUncertain significance
RYR1
(T214A)
Single nucleotide variant
(missense variant)
Congenital multicore myopathy with external ophthalmoplegia
+4 more
GUncertain significance
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
+5 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
RYR1-related disorder
+5 more
GLikely benign
RYR1
Single nucleotide variant
(intron variant)
RYR1-related disorder
+6 more
GLikely benign
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+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)
Inborn genetic diseases
+6 more
GUncertain significance
RYR1
(Y639C)
Single nucleotide variant
(missense variant)
King Denborough syndrome
+2 more
GUncertain significance
RYR1
(E2347K)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(F4803Y +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GLikely pathogenic
RYR1
(R1420C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 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)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(P1763L)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(W275C)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
Single nucleotide variant
(splice acceptor variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GConflicting classifications of pathogenicity
RYR1
(G4396R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
Congenital multicore myopathy with external ophthalmoplegia
+6 more
GUncertain significance
RYR1
(K3492Q +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(I1717S)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(K374del)
Microsatellite
(inframe_deletion)
RYR1-related disorder
+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)
Malignant hyperthermia, susceptibility to, 1
+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)
Malignant hyperthermia, susceptibility to, 1
+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)
Central core myopathy
+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)
not provided
+6 more
GUncertain significance
RYR1
(A2598G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+7 more
GUncertain significance
RYR1
(T3523A +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+2 more
GUncertain significance
RYR1
Duplication
(inframe_insertion)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(G4099S +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
(T656M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
RYR1
(E3440K)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+5 more
GUncertain significance
RYR1
(T692A)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
RYR1
(T1545A)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+5 more
GUncertain significance
RYR1
(E4190D +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
(R2385C)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+6 more
GUncertain significance
RYR1
(R316H)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+5 more
GUncertain significance
RYR1
(N4200I +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GUncertain significance
RYR1
(R1019Q)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+6 more
GUncertain significance
RYR1
Duplication
(inframe_insertion)
Congenital multicore myopathy with external ophthalmoplegia
+5 more
GUncertain significance
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