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Links from MedGen

Items: 1 to 100 of 266

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
Single nucleotide variant
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(F4916L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RYR1
(Y4963* +1 more)
Single nucleotide variant
(nonsense)
Malignant hyperthermia of anesthesia
GLikely pathogenic
ASPH
(D149H +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant hyperthermia of anesthesia
GPathogenic
ASPH
(V54A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRPV1
(R722H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(C2436Y)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(Y178C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
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
(W3284R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(M3266T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(E3226Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(S3217P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(A3090T)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(H2976Y)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(T2910M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(T2885R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
LOC126862902, RYR1
(S2843P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(E2669K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(V2627L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
RYR1
(C2606S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely benign
RYR1
(R2593G)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(S2685F)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R3283Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R1964C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(M1814V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(L1675P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(M4985V +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(W5015C +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(W5015S +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(F2340L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R2126Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(F4803L +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(F539V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
RYR1
(G4930S +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
LOC129391106, RYR1
(L487V)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(D1056H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
RYR1
(G3801R +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(C4659R +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(F4976L +3 more)
Single nucleotide variant
(missense variant)
Central core myopathy
GPathogenic
RYR1
(V4229L +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
RYR1
(C2237Y)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
RYR1
(Y2587C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
LOC129391106, RYR1
(R492H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R471C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(V3218M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(C1781R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(E1223K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(E946*)
Single nucleotide variant
(nonsense)
RYR1-related disorder
+1 more
GPathogenic/Likely pathogenic
RYR1
(R316C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(V2627M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R552Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
+3 more
GConflicting classifications of pathogenicity
RYR1
(R4718H +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely benign
RYR1
(T84M)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(E4128G +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R2593H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R3167*)
Single nucleotide variant
(nonsense)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R2248H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R2163L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely pathogenic
RYR1
(E176D)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(T1176I)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R1016*)
Single nucleotide variant
(nonsense)
Malignant hyperthermia of anesthesia
+1 more
GLikely pathogenic
RYR1
(C64R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
LOC129391106, RYR1
(V518A)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(I4928V +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(Q4837E +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(G4820R +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(H4729P +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(M4230R +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(G4178V +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
CACNA1S
(R174W)
Single nucleotide variant
(missense variant)
desflurane response - Toxicity
+6 more
Gdrug response
RYR1
(R2248C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
LOC129391106, RYR1
(L487P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(M2101K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R3051H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(T4853I +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(G774R)
Single nucleotide variant
(missense variant)
Central core myopathy
+8 more
GUncertain significance
RYR1
(A1363G)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
CACNA1S
(R1229P)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 5
+2 more
GConflicting classifications of pathogenicity
CACNA1S
(T1830R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
CACNA1S
(F1806S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R1336S)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
+2 more
GUncertain significance
RYR1
(E209K)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(P816L)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely benign
RYR1
(F4803N +1 more)
Inversion
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R4558W +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(R1075Q)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GLikely benign
Central core myopathy
GLikely pathogenic
RYR1
(R1032H)
Single nucleotide variant
(missense variant)
Malignant hyperthermia of anesthesia
GUncertain significance
RYR1
(G4178S +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
CACNA1S
Single nucleotide variant
Malignant hyperthermia of anesthesia
+6 more
GBenign
RYR1
Single nucleotide variant
(intron variant)
Multiminicore myopathy
+3 more
GUncertain significance
RYR1
Duplication
(inframe_insertion)
Central core myopathy
+3 more
GUncertain significance
RYR1
(A4451D +1 more)
Single nucleotide variant
(missense variant)
Multiminicore myopathy
+3 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Multiminicore myopathy
+4 more
GConflicting classifications of pathogenicity
RYR1
(P4207T +1 more)
Single nucleotide variant
(missense variant)
Central core myopathy
+3 more
GUncertain significance
RYR1
Single nucleotide variant
(synonymous variant)
Neuromuscular disease, congenital, with uniform type 1 fiber
+4 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
Malignant hyperthermia, susceptibility to, 1
+5 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(synonymous variant)
Neuromuscular disease, congenital, with uniform type 1 fiber
+5 more
GConflicting classifications of pathogenicity
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