RYR1 — 10295 ClinVar variants

All ClinVar germline RYR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2512 flagged for review →

300 Pathogenic · 72 Pathogenic/Likely pathogenic · 329 Likely pathogenic · 694 Conflicting · 290 Benign · 110 Benign/Likely benign · 3698 Likely benign · 4802 Uncertain significance

Full RYR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2512

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 8

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

RYR1 p.Ala2200Val Likely pathogenic Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3550Trp Likely pathogenic Expert panel
RYR1-related myopathy
RYR1 p.Val2280Ile Likely pathogenic Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala2428Ser Likely pathogenic Single submitter
central core myopathy
RYR1 p.Arg242Lys Likely pathogenic Single submitter
centronuclear myopathy
RYR1 p.Arg3577Gly Likely pathogenic Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Asn43Thr Likely pathogenic Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Asn759Ser Likely pathogenic Single submitter
RYR1-related disorder

Predictors agree, ClinVar conflicts 174

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 174

RYR1 p.Arg2508Gly Conflicting Expert panel
RYR1-related myopathy
RYR1 p.Ala1372Val Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala1449Val Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala2287Asp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala3204Val Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala3298Thr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala4290Val Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala4293Val Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Ala4397Gly Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala4463Val Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ala4846Val Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala4894Pro Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg1593Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg1707Cys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg1707His Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg1727His Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg177His Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg1820Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg1999Cys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg2071Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg2084Gln Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg2118Pro Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg220Cys Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Arg2234Cys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg2234His Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg2355Gln Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2435Cys Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg256His Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg280Gln Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Arg282Trp Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2939Lys Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3629Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg367Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg3772Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg4564Gln Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg4564Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg4825His Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg4861Ser Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg5030Cys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg5030His Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg530Cys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg552Gln Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg682Gln Conflicting Single submitter
RYR1-related disorder
RYR1 p.Arg682Trp Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asn1346Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Asn3866Ser Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asn4858Ser Conflicting Single submitter
RYR1-related disorder
RYR1 p.Asn759Asp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Asp3501Tyr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Cys1685Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Cys1685Tyr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Cys3193Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gln4934Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gln4948Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gln5007His Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu1880Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu2439Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu2764Gly Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu320Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu3271Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu3853Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu4181Lys Conflicting Single submitter
RYR1 p.Glu4394Lys Conflicting Single submitter
Inborn genetic diseases
RYR1 p.Glu4635Gly Conflicting Single submitter
central core myopathy
RYR1 p.Glu480Lys Conflicting Single submitter
central core myopathy
RYR1 p.Glu4901Lys Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Glu4911Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Glu4977Gln Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu879Lys Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly1102Ser Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly1165Asp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly1503Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly215Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly2365Arg Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly248Trp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly3028Ser Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly3153Arg Conflicting Single submitter
central core myopathy
RYR1 p.Gly3191Arg Conflicting Single submitter
RYR1-related myopathy
RYR1 p.Gly3288Arg Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Gly3299Val Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly3521Ser Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly4638Ser Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly4782Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly4835Glu Conflicting Single submitter
RYR1-related myopathy
RYR1 p.Gly4891Asp Conflicting Single submitter
RYR1 p.Gly4896Glu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly5006Asp Conflicting Single submitter
RYR1-related disorder
RYR1 p.Gly705Arg Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Gly765Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.His110Tyr Conflicting Single submitter
RYR1 p.His2204Tyr Conflicting Single submitter
King-Denborough syndrome
RYR1 p.His223Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.His283Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.His4729Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.His4887Asp Conflicting Single submitter
RYR1 p.His878Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ile3484Val Conflicting Single submitter
King-Denborough syndrome
RYR1 p.Ile620Asn Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ile637Val Conflicting Single submitter
RYR1-related disorder
RYR1 p.Leu2236Arg Conflicting Single submitter
Inborn genetic diseases
RYR1 p.Leu2433Pro Conflicting Single submitter
RYR1-related disorder
RYR1 p.Leu2466Phe Conflicting Single submitter
RYR1-related disorder
RYR1 p.Leu2619Pro Conflicting Single submitter
central core myopathy
RYR1 p.Leu4568Pro Conflicting Single submitter
RYR1-related disorder
RYR1 p.Leu4793Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Leu4793Pro Conflicting Single submitter
RYR1-related disorder
RYR1 p.Leu4844Pro Conflicting Single submitter
central core myopathy
RYR1 p.Leu883Pro Conflicting Single submitter
RYR1-related myopathy
RYR1 p.Lys1908Arg Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Lys2891Gln Conflicting Single submitter
RYR1-related disorder
RYR1 p.Met1169Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Met2101Val Conflicting Single submitter
RYR1-related disorder
RYR1 p.Met2120Thr Conflicting Single submitter
central core myopathy
RYR1 p.Met2423Lys Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Met2698Thr Conflicting Single submitter
Inborn genetic diseases
RYR1 p.Met3081Thr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Met3815Leu Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Met4457Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Met4881Thr Conflicting Single submitter
RYR1 p.Phe41Ser Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Phe4218Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Phe4808Tyr Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Phe4921Leu Conflicting Single submitter
malignant hyperthermia of anesthesia
RYR1 p.Pro1144Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro1267His Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro1267Thr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro1293Thr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro1454Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro1774Leu Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2195Leu Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2272Ser Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro3138Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro3202Leu Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro3208Leu Conflicting Single submitter
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Pro3410Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro3410Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro4493Ala Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro4522Leu Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro894Thr Conflicting Single submitter
RYR1-related disorder
RYR1 p.Pro966Leu Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ser1342Arg Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ser1975Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Ser3217Cys Conflicting Single submitter
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ser4409Gly Conflicting Single submitter
Inborn genetic diseases
RYR1 p.Ser4867Asn Conflicting Single submitter
RYR1-related myopathy
RYR1 p.Thr1162Ile Conflicting Single submitter
central core myopathy
RYR1 p.Thr3711Arg Conflicting Single submitter
RYR1-related disorder
RYR1 p.Thr4294Ala Conflicting Single submitter
central core myopathy
RYR1 p.Thr4637Pro Conflicting Single submitter
RYR1-related disorder
RYR1 p.Thr4882Met Conflicting Single submitter
RYR1-related disorder

Predictors lean, ClinVar uncertain 2014

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2014

RYR1 p.Ala1577Thr Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Ala2367Thr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala3631Ser Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala3709Val Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala4856Gly Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ala4894Thr Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ala4940Thr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala612Pro Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg1043Cys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg156Lys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg163His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg1964Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg2248Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg2359Trp Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2452Gln Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2452Pro Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2591Trp Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg2593Gly Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg316Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg367Gln Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg367Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3707Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3772Trp Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3983Cys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg401Gly Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg401Ser Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg44His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg4558Gln Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg4861Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg4893Gln Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg533Ser Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg999His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asn2283His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asn3908Ile Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asn4119Tyr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp1056Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp166Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp166Gly Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp227Val Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp2730His Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Asp3696His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp4939Asn Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Asp4939Glu Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Asp60Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp60Tyr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp708Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Cys2237Tyr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Cys2363Trp Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Cys2436Tyr Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Cys4664Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Cys64Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gln1219Pro Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gln474His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gln4837Glu Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu1223Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu160Gly Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu176Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu2344Asp Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu2348Gly Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu2362Gly Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu2371Gly Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu2439Asp Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu2635Val Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Glu2669Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu2764Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu2880Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu3290Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly165Arg Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly2130Arg Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly2183Glu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly2733Asp Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly3806Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly3938Asp Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly40Ala Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly4178Ser Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly4178Val Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly4638Asp Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly4734Glu Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly4820Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly4820Trp Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Gly4942Val Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly684Arg Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.His2204Gln Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.His382Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.His4729Pro Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ile2182Phe Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ile2358Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ile3413Phe Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ile3916Met Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ile4138Thr Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ile4817Phe Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ile4928Val Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ile4938Met Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ile4938Thr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Leu1675Pro Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Leu4568Val Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Leu4650Pro Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Met1729Arg Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Met1814Lys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Met226Lys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Met3266Thr Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Met4230Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Met4640Val Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Met4880Thr Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Phe2340Leu Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Phe4684Ser Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Phe4808Leu Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Phe4960Tyr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro1592Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2366Arg Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2462Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2496Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2560Ala Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Pro2560Arg Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Pro3410Gln Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro3519Leu Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro4668Ser Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ser193Thr Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Ser2685Phe Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ser3217Pro Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ser71Tyr Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Thr1176Ile Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Thr2596Ile Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Thr2885Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Thr2910Met Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Thr4853Ile Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Thr51Asn Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Trp3284Arg Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Trp3985Arg Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Trp5020Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Trp5020Ser Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Tyr1711Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Tyr178Ser Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Tyr2510His Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Tyr2587Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Tyr4733Asp Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Val2212Asp Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Val2346Met Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Val2627Met Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Val4725Leu Uncertain significance Expert panel
RYR1-related myopathy
RYR1 p.Val4842Met Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ala1041Val Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala1226Asp Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala1322Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ala1356Thr Uncertain significance Multiple submitters
congenital fiber-type disproportion myopathy
RYR1 p.Ala1363Gly Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ala1370Thr Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ala1550Thr Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala1674Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ala1681Glu Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1

Predictors split 316

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 316

RYR1 p.Arg1140Cys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2224Cys Likely benign Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2593His Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg3119His Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg316Cys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Arg3348Cys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3348His Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3366His Likely benign Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu209Lys Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Glu2404Lys Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu3584Gln Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu4133Gly Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.His2976Tyr Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Ile2321Val Benign Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro4587Leu Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Thr84Met Uncertain significance Expert panel
malignant hyperthermia of anesthesia
RYR1 p.Val218Ile Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Val3840Ile Uncertain significance Expert panel
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ala3031Thr Uncertain significance Multiple submitters
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Ala4040Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Ala537Thr Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1032Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1035Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1067Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg1070Trp Uncertain significance Multiple submitters
congenital fiber-type disproportion myopathy
RYR1 p.Arg1086Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1127Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg1231His Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg124His Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg1258Gln Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg1270Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1301Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1420His Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg1507Gln Uncertain significance Multiple submitters
central core myopathy
RYR1 p.Arg1507Trp Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1618Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1618His Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg1622Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1622Trp Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg1655Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg1827Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2104Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2118Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2136Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2136His Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2385Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2398Cys Uncertain significance Multiple submitters
King-Denborough syndrome
RYR1 p.Arg2401Gln Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2401Gly Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2402Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2402Trp Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2403Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2403His Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2415Gly Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2415Trp Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg241Cys Uncertain significance Multiple submitters
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Arg2575Cys Uncertain significance Multiple submitters
central core myopathy
RYR1 p.Arg2593Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg2650His Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg2697Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg2985Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg3073Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg3380His Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg3498His Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg3570His Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg3582Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg391Cys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg391His Uncertain significance Multiple submitters
congenital multicore myopathy with external ophthalmoplegia
RYR1 p.Arg4136His Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Arg4187Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg4188His Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg644Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg644His Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg727Cys Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Arg795Cys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Arg795His Uncertain significance Multiple submitters
central core myopathy
RYR1 p.Asn2213Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Asn3211Ser Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asn4053Ser Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asn4788Ser Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asn535Ser Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asn646Ser Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Asp1413Asn Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asp1464Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Asp1477Asn Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Asp2482Gly Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asp2692Asn Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Asp3817Gly Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asp4600Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Asp4625Gly Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Cys844Arg Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gln2173Pro Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gln277Leu Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gln3149Arg Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Gln4019His Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu1166Asp Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu1424Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu1621Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu1698Ala Uncertain significance Multiple submitters
RYR1 p.Glu2115Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu2388Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu2413Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu294Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu2987Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu3352Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu3564Lys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu3584Lys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu4115Asp Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Glu4167Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu462Lys Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu653Gly Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Glu827Val Uncertain significance Multiple submitters
central core myopathy
RYR1 p.Gly1134Ser Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Gly1277Ser Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Gly2571Ala Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Gly698Ser Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Gly714Ser Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.His1639Tyr Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.His2520Arg Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.His2574Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.His3311Tyr Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ile2321Thr Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ile2422Val Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Ile2476Phe Uncertain significance Multiple submitters
central core myopathy
RYR1 p.Ile4772Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ile585Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Leu1334Arg Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Leu3003Val Uncertain significance Multiple submitters
central core myopathy
RYR1 p.Leu4163Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Leu4165Arg Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Leu61Val Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Leu749Val Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Lys2653Arg Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Lys4681Gln Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Lys956Arg Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Met1526Ile Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Met2153Lys Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Met2153Thr Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Pro1402Leu Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Pro1601Thr Uncertain significance Multiple submitters
Inborn genetic diseases
RYR1 p.Pro2473Thr Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro2567Leu Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro3224Leu Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Pro3351Leu Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Pro3427Ala Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Pro3589Arg Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Pro4710Ala Uncertain significance Multiple submitters
malignant hyperthermia, susceptibility to, 1
RYR1 p.Pro4710Leu Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ser2261Gly Uncertain significance Multiple submitters
RYR1-related disorder
RYR1 p.Ser318Cys Uncertain significance Multiple submitters
Inborn genetic diseases

All RYR1 variants

Pathogenic 300

c.10347+1G>A Expert panel RYR1-related myopathy
c.10348-6C>G Expert panel RYR1-related myopathy
c.8310+1G>T Expert panel RYR1-related myopathy
c.9472+1G>A Expert panel RYR1-related myopathy
p.Ala4338fs Expert panel RYR1-related myopathy
p.Arg177Cys Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg401His Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg4737Gln Expert panel malignant hyperthermia, susceptibility to, 1
p.Cys3402Gly Expert panel RYR1-related myopathy
p.Gly341Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Leu2963Pro Expert panel RYR1-related myopathy
p.Lys4876Arg Expert panel malignant hyperthermia of anesthesia
p.Phe4976Leu Expert panel RYR1-related myopathy
p.Thr2206Met Expert panel malignant hyperthermia, susceptibility to, 1
p.Val2354Met Expert panel malignant hyperthermia, susceptibility to, 1
p.Val2627Leu Expert panel malignant hyperthermia of anesthesia
c.14130-2A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.3381+1G>A Multiple submitters RYR1-related disorder
c.6797-6_6798del Multiple submitters RYR1-related disorder
p.Arg2028Ter Multiple submitters RYR1-related disorder
p.Arg4914Thr Multiple submitters central core myopathy
p.Arg819Ter Multiple submitters RYR1-related disorder
p.Arg997Ter Multiple submitters RYR1-related disorder
p.Asp4918Asn Multiple submitters central core myopathy
p.Gln2173Ter Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Gln3485Ter Multiple submitters central core myopathy
p.Gln677Ter Multiple submitters RYR1-related disorder
p.Glu2925Ter Multiple submitters RYR1-related disorder
p.Glu4635Lys Multiple submitters RYR1-related disorder
p.Gly4407fs Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.His4651Pro Multiple submitters RYR1-related disorder
p.His581fs Multiple submitters RYR1-related disorder
p.Ile2781fs Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Leu1693fs Multiple submitters RYR1-related disorder
p.Met2312fs Multiple submitters RYR1-related disorder
p.Phe4857Leu Multiple submitters central core myopathy
p.Phe4921Ser Multiple submitters RYR1-related disorder
p.Pro1327_Asp1328insTer Multiple submitters RYR1-related disorder
p.Pro626_Gly627insTer Multiple submitters RYR1-related disorder
p.Ser2720Ter Multiple submitters central core myopathy
p.Thr4637Ile Multiple submitters RYR1-related disorder
p.Trp3284Ter Multiple submitters Abnormality of the musculature
p.Trp661Ter Multiple submitters RYR1-related disorder
p.Tyr4889Ter Multiple submitters RYR1-related disorder
p.Val1494_Trp1495insTer Multiple submitters RYR1-related disorder
p.Val4798fs Multiple submitters RYR1-related disorder
c.12013-2A>G Single submitter RYR1-related disorder
c.12625-1G>T Single submitter
c.13437+1G>A Single submitter
c.13659+1del Single submitter RYR1-related disorder
c.14120_14129+14del Single submitter RYR1-related disorder
c.14173-1G>A Single submitter RYR1-related disorder
c.1439_1440+1del Single submitter
c.14647-15_14649del Single submitter arthrogryposis multiplex congenita
c.2870+1G>T Single submitter RYR1-related disorder
c.6891+1G>T Single submitter centronuclear myopathy
c.7324-1G>A Single submitter RYR1-related disorder
c.7324-1G>T Single submitter RYR1-related disorder
c.7614+1G>A Single submitter RYR1-related myopathy
c.9000+1G>A Single submitter RYR1-related disorder
c.9122+1G>T Single submitter
p.Ala1318fs Single submitter RYR1-related disorder
p.Ala1356fs Single submitter RYR1-related disorder
p.Ala1372fs Single submitter RYR1-related disorder
p.Ala1440fs Single submitter RYR1-related disorder
p.Ala2437fs Single submitter RYR1-related disorder
p.Ala2979fs Single submitter RYR1-related disorder
p.Ala3431fs Single submitter RYR1-related disorder
p.Ala3541_Leu3542insTer Single submitter
p.Ala4293fs Single submitter RYR1-related disorder
p.Ala431fs Single submitter RYR1-related disorder
p.Ala4350fs Single submitter RYR1-related disorder
p.Ala996fs Single submitter RYR1-related disorder
p.Arg1258Ter Single submitter RYR1-related disorder
p.Arg1618fs Single submitter RYR1-related disorder
p.Arg1999fs Single submitter malignant hyperthermia, susceptibility to, 1
p.Arg2163fs Single submitter RYR1-related disorder
p.Arg2234Ser Single submitter King-Denborough syndrome
p.Arg2591fs Single submitter RYR1-related disorder
p.Arg2920Ter Single submitter RYR1-related disorder
p.Arg328fs Single submitter RYR1-related disorder
p.Arg3366fs Single submitter RYR1-related disorder
p.Arg3707fs Single submitter RYR1-related disorder
p.Arg3885Ter Single submitter RYR1-related disorder
p.Arg4306Ter Single submitter RYR1-related disorder
p.Arg4558Gly Single submitter RYR1-related disorder
p.Arg4558Trp Single submitter RYR1-related disorder
p.Arg4704Ter Single submitter RYR1-related disorder
p.Arg4861Pro Single submitter RYR1-related disorder
p.Arg4914Gly Single submitter central core myopathy
p.Asn3428fs Single submitter RYR1-related disorder
p.Asn3523fs Single submitter RYR1-related disorder
p.Asn407fs Single submitter RYR1-related disorder
p.Asn609fs Single submitter RYR1-related disorder
p.Asp1477fs Single submitter RYR1-related disorder
p.Asp4623fs Single submitter RYR1-related disorder
p.Asp4816Gly Single submitter central core myopathy
p.Cys2651_Trp2652insTer Single submitter RYR1-related disorder
p.Cys3304fs Single submitter RYR1-related disorder
p.Cys3891fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Cys4124Ter Single submitter RYR1-related disorder
p.Cys4664fs Single submitter RYR1-related disorder
p.Gln1219Ter Single submitter RYR1-related disorder
p.Gln1243fs Single submitter RYR1-related disorder
p.Gln1295Ter Single submitter RYR1-related disorder
p.Gln1315fs Single submitter RYR1-related disorder
p.Gln1362fs Single submitter RYR1-related disorder
p.Gln1362Ter Single submitter RYR1-related disorder
p.Gln1458Ter Single submitter RYR1-related disorder
p.Gln1558Ter Single submitter
p.Gln1837Ter Single submitter RYR1-related disorder
p.Gln1901Ter Single submitter RYR1-related disorder
p.Gln1938Ter Single submitter RYR1-related disorder
p.Gln1973Ter Single submitter RYR1-related disorder
p.Gln2193Ter Single submitter RYR1-related disorder
p.Gln240Ter Single submitter King-Denborough syndrome
p.Gln2444Ter Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Gln2475fs Single submitter RYR1-related disorder
p.Gln2924Ter Single submitter RYR1-related disorder
p.Gln2993Ter Single submitter RYR1-related disorder
p.Gln3127Ter Single submitter RYR1-related disorder
p.Gln3355Ter Single submitter
p.Gln3388fs Single submitter RYR1-related disorder
p.Gln3461Ter Single submitter RYR1-related disorder
p.Gln3491Ter Single submitter RYR1-related disorder
p.Gln3812Ter Single submitter RYR1-related disorder
p.Gln3832Ter Single submitter RYR1-related disorder
p.Gln3888Ter Single submitter RYR1-related disorder
p.Gln3926Ter Single submitter RYR1-related disorder
p.Gln4004Ter Single submitter RYR1-related disorder
p.Gln4008Ter Single submitter RYR1-related disorder
p.Gln4093fs Single submitter RYR1-related disorder
p.Gln4099fs Single submitter RYR1-related disorder
p.Gln4203Ter Single submitter RYR1-related disorder
p.Gln4525Ter Single submitter RYR1-related disorder
p.Gln4948Lys Single submitter
p.Gln55Ter Single submitter RYR1-related disorder
p.Glu1319Ter Single submitter RYR1-related disorder
p.Glu1366fs Single submitter
p.Glu1720Ter Single submitter RYR1-related disorder
p.Glu1740Ter Single submitter RYR1-related disorder
p.Glu1873fs Single submitter arthrogryposis multiplex congenita
p.Glu2078Ter Single submitter
p.Glu2382fs Single submitter RYR1-related disorder
p.Glu2404Ter Single submitter RYR1-related disorder
p.Glu2413Ter Single submitter RYR1-related disorder
p.Glu262Ter Single submitter
p.Glu337fs Single submitter RYR1-related disorder
p.Glu342Ter Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Glu3564fs Single submitter RYR1-related disorder
p.Glu3749Ter Single submitter RYR1-related disorder
p.Glu3758fs Single submitter RYR1-related disorder
p.Glu3776Ter Single submitter RYR1-related disorder
p.Glu3966fs Single submitter RYR1-related disorder
p.Glu4106fs Single submitter
p.Glu4171Ter Single submitter RYR1-related disorder
p.Glu4205Ter Single submitter
p.Glu4254fs Single submitter RYR1-related disorder
p.Glu4256Ter Single submitter RYR1-related disorder
p.Glu4277Ter Single submitter RYR1-related disorder
p.Glu4410Ter Single submitter RYR1-related disorder
p.Glu4494Ter Single submitter congenital fiber-type disproportion myopathy
p.Glu4496fs Single submitter RYR1-related disorder
p.Glu4500Ter Single submitter RYR1-related disorder
p.Glu4512Ter Single submitter RYR1-related disorder
p.Glu4594fs Single submitter RYR1-related disorder
p.Glu461Ter Single submitter RYR1-related disorder
p.Glu4634Lys Single submitter central core myopathy
p.Glu4634Ter Single submitter RYR1-related disorder
p.Glu4949Ter Single submitter RYR1-related disorder
p.Glu554Ter Single submitter RYR1-related disorder
p.Glu669Ter Single submitter RYR1-related disorder
p.Glu879Ter Single submitter RYR1-related disorder
p.Gly1359fs Single submitter
p.Gly215Ter Single submitter Myopathy, RYR1-associated
p.Gly2317fs Single submitter RYR1-related disorder
p.Gly2448Asp Single submitter RYR1-related disorder
p.Gly3026fs Single submitter RYR1-related disorder
p.Gly4274= Single submitter RYR1-related disorder
p.Gly4353fs Single submitter RYR1-related disorder
p.Gly4455fs Single submitter RYR1-related disorder
p.Gly4595fs Single submitter RYR1-related disorder
p.Gly4895Val Single submitter RYR1-related disorder
p.Gly4935Asp Single submitter King-Denborough syndrome
p.His1297fs Single submitter RYR1-related disorder
p.His3558fs Single submitter RYR1-related disorder
p.His4392fs Single submitter RYR1-related disorder
p.Ile4189fs Single submitter RYR1-related disorder
p.Ile4473fs Single submitter RYR1-related disorder
p.Ile559fs Single submitter congenital fiber-type disproportion myopathy
p.Ile860fs Single submitter RYR1-related disorder
p.Leu1980fs Single submitter RYR1-related disorder
p.Leu2059fs Single submitter RYR1-related disorder
p.Leu2273fs Single submitter RYR1-related disorder
p.Leu2595fs Single submitter RYR1-related disorder
p.Leu2743fs Single submitter RYR1-related disorder
p.Leu3186fs Single submitter RYR1-related disorder
p.Leu3553fs Single submitter RYR1-related disorder
p.Leu3654fs Single submitter RYR1-related disorder
p.Leu4163fs Single submitter RYR1-related disorder
p.Leu4358fs Single submitter RYR1-related disorder
p.Leu4362fs Single submitter RYR1-related disorder
p.Leu4665Pro Single submitter RYR1-related disorder
p.Leu4851Pro Single submitter
p.Leu4930fs Single submitter RYR1-related disorder
p.Leu631fs Single submitter
p.Leu687fs Single submitter RYR1-related disorder
p.Leu68fs Single submitter RYR1-related disorder
p.Leu931fs Single submitter RYR1-related disorder
p.Lys1393fs Single submitter RYR1-related disorder
p.Lys1487fs Single submitter RYR1-related disorder
p.Lys1487Ter Single submitter RYR1-related disorder
p.Lys2890fs Single submitter RYR1-related disorder
p.Lys3515Ter Single submitter RYR1-related disorder
p.Lys3622fs Single submitter RYR1-related myopathy
p.Lys3958Ter Single submitter RYR1-related disorder
p.Lys4523fs Single submitter RYR1-related disorder
p.Lys4862Thr Single submitter RYR1-related disorder
p.Met1461fs Single submitter RYR1-related disorder
p.Met2582fs Single submitter RYR1-related disorder
p.Met3998fs Single submitter RYR1-related disorder
p.Met4457fs Single submitter RYR1-related disorder
p.Phe1300fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Phe2406fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Phe2569fs Single submitter RYR1-related myopathy
p.Phe3057fs Single submitter RYR1-related disorder
p.Phe4194Leu Single submitter RYR1-related disorder
p.Phe4632fs Single submitter RYR1-related disorder
p.Phe4857Ser Single submitter RYR1-related disorder
p.Phe4860Ter Single submitter RYR1-related disorder
p.Pro336fs Single submitter RYR1-related disorder
p.Pro4257fs Single submitter RYR1-related disorder
p.Pro430fs Single submitter RYR1-related disorder
p.Pro863fs Single submitter
p.Ser1778Ter Single submitter RYR1-related disorder
p.Ser24fs Single submitter RYR1-related disorder
p.Ser2590fs Single submitter RYR1-related disorder
p.Ser2617Ter Single submitter RYR1-related disorder
p.Ser3116fs Single submitter RYR1-related disorder
p.Ser3600Ter Single submitter RYR1-related disorder
p.Ser4235delinsArgArgTrpSerSerSerTer Single submitter RYR1-related disorder
p.Ser4309fs Single submitter RYR1-related disorder
p.Ser557Phe Single submitter RYR1-related disorder
p.Thr1556fs Single submitter RYR1-related disorder
p.Thr2271fs Single submitter central core myopathy
p.Thr2885fs Single submitter RYR1-related disorder
p.Thr2938fs Single submitter RYR1-related disorder
p.Thr3264fs Single submitter RYR1-related disorder
p.Thr4081fs Single submitter RYR1-related disorder
p.Thr4324fs Single submitter RYR1-related disorder
p.Thr4832Asn Single submitter
p.Thr4853Asn Single submitter RYR1-related disorder
p.Thr656fs Single submitter RYR1-related disorder
p.Trp1276Ter Single submitter RYR1-related disorder
p.Trp2661Ter Single submitter RYR1-related disorder
p.Trp3445Ter Single submitter RYR1-related disorder
p.Trp355Ter Single submitter RYR1-related disorder
p.Trp4204Ter Single submitter
p.Trp4337Ter Single submitter RYR1-related disorder
p.Trp4795Ter Single submitter RYR1-related disorder
p.Trp881Ter Single submitter RYR1-related disorder
p.Trp890Ter Single submitter RYR1-related disorder
p.Tyr1433Ter Single submitter RYR1-related disorder
p.Tyr1456Ter Single submitter RYR1-related disorder
p.Tyr2318fs Single submitter RYR1-related disorder
p.Tyr245Ter Single submitter RYR1-related disorder
p.Tyr2714fs Single submitter centronuclear myopathy
p.Tyr289Ter Single submitter RYR1-related disorder
p.Tyr2908fs Single submitter RYR1-related disorder
p.Tyr2908Ter Single submitter myopathy
p.Tyr3540Ter Single submitter RYR1-related disorder
p.Tyr3613Ter Single submitter RYR1-related disorder
p.Tyr4310fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Tyr4555Ter Single submitter RYR1-related disorder
p.Tyr4581Ter Single submitter RYR1-related disorder
p.Tyr4630fs Single submitter RYR1-related disorder
p.Tyr4631Ter Single submitter RYR1-related disorder
p.Tyr4850Ser Single submitter
p.Val1094fs Single submitter RYR1-related disorder
p.Val1470fs Single submitter RYR1-related disorder
p.Val1935fs Single submitter Hypotonic infant
p.Val3633fs Single submitter RYR1-related disorder
p.Val4547fs Single submitter RYR1-related disorder
p.Val4849del Single submitter RYR1-related disorder
p.Val74fs Single submitter RYR1-related disorder
c.14365-2A>T No assertion criteria congenital multicore myopathy with external ophthalmoplegia
p.Ala4329Asp No assertion criteria central core myopathy
p.Arg4214_Phe4216del No assertion criteria central core myopathy
p.Arg4893Pro No assertion criteria central core myopathy
p.Asn4123fs No assertion criteria congenital multicore myopathy with external ophthalmoplegia
p.Asn4858Asp No assertion criteria central core myopathy
p.Glu699_Gly707del No assertion criteria congenital multicore myopathy with external ophthalmoplegia
p.Gly4891Arg No assertion criteria central core myopathy
p.Gly4897Val No assertion criteria central core myopathy
p.Leu4814Phe No assertion criteria central core myopathy
p.Phe1499fs No assertion criteria congenital multicore myopathy with external ophthalmoplegia
p.Phe4863_Asp4869del No assertion criteria central core myopathy
p.Pro3527Ser No assertion criteria congenital multicore myopathy with external ophthalmoplegia
p.Tyr4631Asn No assertion criteria central core myopathy
p.Tyr4864Cys No assertion criteria central core myopathy

Pathogenic/Likely pathogenic 72

p.Arg3772Gln Expert panel RYR1-related myopathy
p.Arg3903Gln Expert panel RYR1-related myopathy
p.Pro4973Leu Expert panel RYR1-related myopathy
c.10441-48G>A Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.10627-1G>C Multiple submitters RYR1-related disorder
c.11360-1_11374del Multiple submitters
c.14129+1G>A Multiple submitters congenital fiber-type disproportion myopathy
c.14869-1G>T Multiple submitters RYR1-related disorder
c.1576+1G>A Multiple submitters centronuclear myopathy
c.2683-1G>A Multiple submitters RYR1-related disorder
c.2870+1G>A Multiple submitters RYR1-related disorder
c.46-1G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.6127+1G>A Multiple submitters RYR1-related disorder
c.6274+1G>A Multiple submitters King-Denborough syndrome
c.8929_8932+4delinsAAGCGG Multiple submitters congenital fiber-type disproportion myopathy
p.Ala3774fs Multiple submitters RYR1-related disorder
p.Ala4348fs Multiple submitters RYR1-related disorder
p.Arg1075Trp Multiple submitters centronuclear myopathy
p.Arg280Ter Multiple submitters central core myopathy
p.Arg2985Ter Multiple submitters RYR1-related disorder
p.Arg3053Ter Multiple submitters RYR1-related disorder
p.Arg3283Ter Multiple submitters congenital fiber-type disproportion myopathy
p.Arg4825Cys Multiple submitters Lynch syndrome 5
p.Arg4893Trp Multiple submitters RYR1-related disorder
p.Arg4945Ter Multiple submitters King-Denborough syndrome
p.Arg817Ter Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Asn1559fs Multiple submitters central core myopathy
p.Asn1972Ile Multiple submitters RYR1-related disorder
p.Asn4575Thr Multiple submitters RYR1-related disorder
p.Asn4806Asp Multiple submitters Abnormality of the musculature
p.Asp2713fs Multiple submitters RYR1-related disorder
p.Asp60fs Multiple submitters RYR1-related disorder
p.Cys1268fs Multiple submitters RYR1-related disorder
p.Gln1479Ter Multiple submitters RYR1-related disorder
p.Gln1613Ter Multiple submitters centronuclear myopathy
p.Gln3977Ter Multiple submitters RYR1-related disorder
p.Gln734Ter Multiple submitters RYR1-related disorder
p.Gln764Ter Multiple submitters central core myopathy
p.Glu1817fs Multiple submitters centronuclear myopathy
p.Glu1997Lys Multiple submitters RYR1-related disorder
p.Glu2371Lys Multiple submitters RYR1-related disorder
p.Glu3584fs Multiple submitters RYR1-related disorder
p.Glu4167Ter Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Glu4243Lys Multiple submitters RYR1-related disorder
p.Glu4327fs Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Glu946Ter Multiple submitters malignant hyperthermia of anesthesia
p.Gly3328fs Multiple submitters RYR1-related disorder
p.Gly4037fs Multiple submitters RYR1-related disorder
p.Gly4899Glu Multiple submitters RYR1-related disorder
p.Gly5006Ser Multiple submitters central core myopathy
p.Gly707Ser Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.His4651Arg Multiple submitters RYR1-related disorder
p.His4813Tyr Multiple submitters Abnormality of the musculature
p.Ile3484fs Multiple submitters central core myopathy
p.Ile448Phe Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Ile4937Met Multiple submitters central core myopathy
p.Leu417Pro Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Leu4936Arg Multiple submitters RYR1-related disorder
p.Met4022fs Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Met4038fs Multiple submitters RYR1-related disorder
p.Met4640Arg Multiple submitters RYR1-related disorder
p.Phe4924del Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Pro1267Arg Multiple submitters RYR1-related disorder
p.Pro2488fs Multiple submitters
p.Ser1770Ter Multiple submitters RYR1-related disorder
p.Thr4637Ala Multiple submitters RYR1-related disorder
p.Trp1448Ter Multiple submitters RYR1-related disorder
p.Tyr3016Cys Multiple submitters RYR1-related disorder
p.Tyr3576fs Multiple submitters RYR1-related disorder
p.Tyr4631Cys Multiple submitters RYR1-related disorder
p.Tyr4631Ser Multiple submitters RYR1-related myopathy
p.Tyr4852Cys Multiple submitters RYR1-related disorder

Likely pathogenic 329

Showing the top 300 by review status; the full set is in the sitemap.

c.1925+1G>C Expert panel RYR1-related myopathy
c.958_960del Expert panel RYR1-related myopathy
p.Ala152Asp Expert panel malignant hyperthermia, susceptibility to, 1
p.Ala2200Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala2437Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2163Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2163Pro Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2359Gln Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2435Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2458Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2508Cys Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2676Trp Expert panel malignant hyperthermia of anesthesia
p.Arg3550Trp Expert panel RYR1-related myopathy ⚠
p.Arg401Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg4737Trp Expert panel malignant hyperthermia of anesthesia
p.Arg530His Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp1056His Expert panel malignant hyperthermia of anesthesia
p.Asp2129Glu Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp2431Asn Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp2431Tyr Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp2431Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp2730Gly Expert panel malignant hyperthermia of anesthesia
p.Asp3986Glu Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp544Tyr Expert panel malignant hyperthermia, susceptibility to, 1
p.Gln155Lys Expert panel malignant hyperthermia, susceptibility to, 1
p.Gln464Lys Expert panel malignant hyperthermia, susceptibility to, 1
p.Glu2362Lys Expert panel malignant hyperthermia, susceptibility to, 1
p.Glu3391Ter Expert panel RYR1-related myopathy
p.Glu342Lys Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly2375Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly248Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly4897Asp Expert panel RYR1-related myopathy
p.Gly4935Ser Expert panel malignant hyperthermia of anesthesia
p.His2253Tyr Expert panel malignant hyperthermia, susceptibility to, 1
p.Ile2453Thr Expert panel malignant hyperthermia, susceptibility to, 1
p.Leu13Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Leu4851Val Expert panel RYR1-related myopathy
p.Lys33Glu Expert panel malignant hyperthermia, susceptibility to, 1
p.Phe2364Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Phe539Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Phe539Val Expert panel malignant hyperthermia of anesthesia
p.Ser1728Phe Expert panel malignant hyperthermia, susceptibility to, 1
p.Ser2345Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Ser4050Tyr Expert panel malignant hyperthermia, susceptibility to, 1
p.Tyr178Cys Expert panel malignant hyperthermia of anesthesia
p.Tyr522Cys Expert panel malignant hyperthermia, susceptibility to, 1
p.Val2117Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Val2210Phe Expert panel malignant hyperthermia, susceptibility to, 1
p.Val2280Ile Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Val4234Leu Expert panel malignant hyperthermia of anesthesia
p.Val4847Leu Expert panel malignant hyperthermia of anesthesia
c.11608+1G>A Multiple submitters King-Denborough syndrome
c.12095-2A>G Multiple submitters King-Denborough syndrome
c.14647-1G>C Multiple submitters RYR1-related disorder
c.4935-2A>T Multiple submitters RYR1-related disorder
c.7835+1G>A Multiple submitters RYR1-related disorder
c.7835+2T>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7836-1G>A Multiple submitters central core myopathy
c.7927-1G>T Multiple submitters King-Denborough syndrome
c.8693-1G>A Multiple submitters RYR1-related disorder
p.4925VI[1] Multiple submitters RYR1-related disorder
p.Ala1671fs Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Ala4906Val Multiple submitters RYR1-related disorder
p.Arg2336Cys Multiple submitters RYR1-related disorder
p.Arg4893Leu Multiple submitters King-Denborough syndrome
p.Arg614His Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Leu2286Val Multiple submitters central core myopathy
p.Ser4112Leu Multiple submitters RYR1-related disorder
p.Thr2675Lys Multiple submitters centronuclear myopathy
p.Thr4920Ile Multiple submitters RYR1-related disorder
p.Val4831fs Multiple submitters central core myopathy
c.10259+1G>A Single submitter RYR1-related disorder
c.10260-2_10268del Single submitter RYR1-related disorder
c.10440+2_10440+22del Single submitter RYR1-related disorder
c.10626+1G>A Single submitter RYR1-related disorder
c.10686+1G>A Single submitter RYR1-related disorder
c.10686+2T>C Single submitter RYR1-related disorder
c.10687-2A>G Single submitter RYR1-related disorder
c.10824+1G>C Single submitter RYR1-related disorder
c.10937+1G>A Single submitter RYR1-related disorder
c.10985_11034+80delinsCCTCAA Single submitter RYR1-related disorder
c.11178_11193+7del Single submitter Abnormality of the musculature
c.11439+1G>C Single submitter RYR1-related disorder
c.11517-2A>G Single submitter RYR1-related disorder
c.11591-1G>A Single submitter RYR1-related disorder
c.11690-2A>C Single submitter RYR1-related disorder
c.11907+1G>C Single submitter RYR1-related disorder
c.11908-2A>T Single submitter
c.12094+2T>C Single submitter
c.12624+1G>A Single submitter RYR1-related disorder
c.12624+1G>C Single submitter
c.13514+1G>A Single submitter RYR1-related disorder
c.13659+2T>A Single submitter RYR1-related disorder
c.13660-1_13660del Single submitter RYR1-related disorder
c.13660-1G>A Single submitter RYR1-related disorder
c.14129+1G>C Single submitter RYR1-related disorder
c.14129+1G>T Single submitter RYR1-related disorder
c.14172+1G>A Single submitter RYR1-related disorder
c.14303+1G>T Single submitter
c.1440+1G>A Single submitter RYR1-related disorder
c.14647-1449A>G Single submitter RYR1-related disorder
c.14868+1G>C Single submitter RYR1-related disorder
c.14869-2A>G Single submitter RYR1-related disorder
c.14970-1G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.14970delG Single submitter central core myopathy
c.164_165+1del Single submitter RYR1-related disorder
c.166-2A>C Single submitter RYR1-related disorder
c.1673-1G>A Single submitter RYR1-related disorder
c.2168-1G>A Single submitter central core myopathy
c.2361-1G>A Single submitter RYR1-related myopathy
c.2361-1G>C Single submitter
c.2578-2A>G Single submitter central core myopathy
c.2682+1G>T Single submitter
c.2786+1G>C Single submitter congenital multicore myopathy with external ophthalmoplegia
c.2786+2T>G Single submitter RYR1-related disorder
c.3178+1G>A Single submitter RYR1-related disorder
c.3178+587A>G Single submitter RYR1-related myopathy
c.3382-1G>A Single submitter King-Denborough syndrome
c.346-1G>A Single submitter RYR1-related disorder
c.3557-10_3562del Single submitter RYR1-related disorder
c.3766-1G>A Single submitter RYR1-related disorder
c.424+1G>T Single submitter RYR1-related disorder
c.424+2T>C Single submitter
c.4294-2A>G Single submitter RYR1-related disorder
c.45+1G>A Single submitter RYR1-related disorder
c.4707+1G>A Single submitter
c.4708-1G>C Single submitter RYR1-related disorder
c.4935-1G>A Single submitter
c.5547+2T>C Single submitter
c.5814+1G>A Single submitter
c.5814+2T>C Single submitter
c.5815-2A>G Single submitter RYR1-related disorder
c.6127+1G>T Single submitter RYR1-related disorder
c.6663+1G>A Single submitter RYR1-related disorder
c.6663+2T>C Single submitter RYR1-related disorder
c.6796+1G>A Single submitter RYR1-related disorder
c.7205_7214+14del Single submitter RYR1-related disorder
c.7215-1G>T Single submitter RYR1-related disorder
c.7374_7614+31delinsT Single submitter malignant hyperthermia, susceptibility to, 1
c.7444+2T>C Single submitter RYR1-related disorder
c.7445-2A>C Single submitter RYR1-related disorder
c.7615-1G>T Single submitter RYR1-related disorder
c.7926+2T>C Single submitter RYR1-related disorder
c.8067+1G>T Single submitter RYR1-related disorder
c.8310+1G>A Single submitter RYR1-related disorder
c.8310+2T>C Single submitter RYR1-related disorder
c.8617-2A>G Single submitter RYR1-related disorder
c.8817-49_8855del Single submitter congenital multicore myopathy with external ophthalmoplegia
c.9122+1G>A Single submitter RYR1-related disorder
c.9172+1G>A Single submitter RYR1-related disorder
c.9234-1G>C Single submitter RYR1-related disorder
c.9473-2A>G Single submitter RYR1-related disorder
c.958-2A>G Single submitter RYR1-related disorder
c.9686-1del Single submitter RYR1-related disorder
c.9686-7_9705del Single submitter RYR1-related disorder
p.Ala152Val Single submitter
p.Ala2428Ser Single submitter central core myopathy ⚠
p.Ala2975fs Single submitter
p.Ala4166fs Single submitter
p.Ala4345fs Single submitter
p.Ala612Asp Single submitter arthrogryposis multiplex congenita
p.Ala697_Gly705del Single submitter
p.Arg1645Leu Single submitter RYR1-related disorder
p.Arg1996= Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Arg2163Gly Single submitter RYR1-related disorder
p.Arg2336Leu Single submitter RYR1-related disorder
p.Arg242Lys Single submitter centronuclear myopathy ⚠
p.Arg2452Gly Single submitter central core myopathy
p.Arg2454Ser Single submitter RYR1-related disorder
p.Arg2508Pro Single submitter RYR1-related disorder
p.Arg2508Ser Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Arg2676fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Arg2676Gln Single submitter RYR1-related disorder
p.Arg3577Gly Single submitter congenital multicore myopathy with external ophthalmoplegia ⚠
p.Arg3903Leu Single submitter RYR1-related disorder
p.Arg3983His Single submitter central core myopathy
p.Arg4084fs Single submitter RYR1-related disorder
p.Arg4179Cys Single submitter RYR1-related disorder
p.Arg4179His Single submitter Inborn genetic diseases
p.Arg44Pro Single submitter RYR1-related disorder
p.Arg4861Gly Single submitter RYR1-related disorder
p.Arg4914Trp Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Arg530Ser Single submitter RYR1-related disorder
p.Arg614Gly Single submitter RYR1-related disorder
p.Arg682Gly Single submitter centronuclear myopathy
p.Arg789Leu Single submitter RYR1-related disorder
p.Asn1531fs Single submitter
p.Asn3234fs Single submitter central core myopathy
p.Asn43Thr Single submitter congenital multicore myopathy with external ophthalmoplegia ⚠
p.Asn4575Ser Single submitter RYR1-related disorder
p.Asn759Ser Single submitter RYR1-related disorder ⚠
p.Asp1455fs Single submitter
p.Asp4421fs Single submitter
p.Asp4939Tyr Single submitter
p.Cys1685Arg Single submitter RYR1-related disorder
p.Cys1685Gly Single submitter RYR1-related disorder
p.Cys229Arg Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Cys2611= Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Cys2656Ter Single submitter central core myopathy
p.Cys3304Arg Single submitter central core myopathy
p.Gln1597Ter Single submitter
p.Gln2247Glu Single submitter
p.Gln2515Ter Single submitter
p.Gln3209Ter Single submitter King-Denborough syndrome
p.Gln3899Arg Single submitter RYR1-related disorder
p.Gln4208Arg Single submitter central core myopathy
p.Gln474Leu Single submitter malignant hyperthermia, susceptibility to, 1
p.Gln4934Leu Single submitter RYR1-related disorder
p.Gln4934Ter Single submitter RYR1-related disorder
p.Gln859Ter Single submitter
p.Glu2175fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Glu2412fs Single submitter malignant hyperthermia, susceptibility to, 1
p.Glu3610Ter Single submitter King-Denborough syndrome
p.Glu3853Gln Single submitter RYR1-related disorder
p.Glu396Lys Single submitter congenital muscular dystrophy
p.Glu4049Asp Single submitter RYR1-related disorder
p.Glu4049Gln Single submitter RYR1-related disorder
p.Glu4049Leu Single submitter RYR1-related disorder
p.Glu4164fs Single submitter RYR1-related disorder
p.Glu4243Asp Single submitter RYR1-related disorder
p.Glu4590fs Single submitter
p.Glu4977Lys Single submitter
p.Glu664_Val665insTer Single submitter
p.Glu664Gln Single submitter distal arthrogryposis
p.Glu689Ter Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Gly1340fs Single submitter malignant hyperthermia, susceptibility to, 1
p.Gly1365fs Single submitter
p.Gly159Arg Single submitter RYR1-related disorder
p.Gly2304fs Single submitter
p.Gly2375Glu Single submitter
p.Gly2419Val Single submitter RYR1-related disorder
p.Gly341Trp Single submitter malignant hyperthermia, susceptibility to, 1
p.Gly3521Arg Single submitter
p.Gly4743Ser Single submitter RYR1-related disorder
p.Gly4743Val Single submitter central core myopathy
p.Gly4891Ser Single submitter King-Denborough syndrome
p.Gly723Arg Single submitter arthrogryposis multiplex congenita
p.His2673fs Single submitter
p.His4804Arg Single submitter central core myopathy
p.His4887Tyr Single submitter RYR1-related disorder
p.His735fs Single submitter
p.His903fs Single submitter
p.Ile2167Ser Single submitter King-Denborough syndrome
p.Ile4196_Ser4197insTer Single submitter central core myopathy
p.Leu1241fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Leu1269fs Single submitter
p.Leu1812Pro Single submitter
p.Leu2657fs Single submitter RYR1-related disorder
p.Leu3296fs Single submitter King-Denborough syndrome
p.Leu3606Pro Single submitter RYR1-related disorder
p.Leu3641Pro Single submitter RYR1-related disorder
p.Leu4556Pro Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Leu4633Gln Single submitter RYR1-related disorder
p.Leu4633Pro Single submitter RYR1-related disorder
p.Leu4647Gln Single submitter centronuclear myopathy
p.Leu4647Pro Single submitter RYR1-related disorder
p.Leu4802_Gly4803insLeu Single submitter RYR1-related disorder
p.Leu4838Arg Single submitter RYR1-related myopathy
p.Leu4930Trp Single submitter limb-girdle muscular dystrophy
p.Leu931Pro Single submitter RYR1-related myopathy
p.Lys2189fs Single submitter
p.Lys2221Ter Single submitter RYR1-related disorder
p.Lys33Asn Single submitter malignant hyperthermia, susceptibility to, 1
p.Lys4666= Single submitter arthrogryposis multiplex congenita
p.Lys4780fs Single submitter
p.Lys4866Glu Single submitter central core myopathy
p.Lys597Asn Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Lys953fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Met115Ile Single submitter RYR1-related myopathy
p.Met1572Thr Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Met2211Leu Single submitter
p.Met2267fs Single submitter RYR1-related myopathy
p.Met3276fs Single submitter
p.Met402Thr Single submitter RYR1-related disorder
p.Met4628_Phe4632dup Single submitter Inborn genetic diseases
p.Phe4541fs Single submitter Hypohidrotic Ectodermal Dysplasia, Dominant
p.Phe4552Ile Single submitter
p.Phe4808Cys Single submitter RYR1-related disorder
p.Phe4808Ser Single submitter
p.Phe4857Tyr Single submitter RYR1-related disorder
p.Phe4860Ser Single submitter
p.Phe4921Thr Single submitter RYR1-related disorder
p.Phe4941Cys Single submitter
p.Pro1267Ala Single submitter RYR1-related disorder
p.Pro336_Glu337insTer Single submitter
p.Pro571Leu Single submitter
p.Ser1445fs Single submitter central core myopathy
p.Ser2345Asn Single submitter malignant hyperthermia, susceptibility to, 1
p.Ser3074Phe Single submitter RYR1-related disorder
p.Ser3259Ter Single submitter RYR1-related disorder
p.Ser3446fs Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Ser4830Pro Single submitter RYR1-related myopathy
p.Ser4830Tyr Single submitter RYR1-related disorder
p.Ser4867Arg Single submitter RYR1-related disorder
p.Thr2596fs Single submitter
p.Thr286fs Single submitter King-Denborough syndrome
p.Thr3545fs Single submitter
p.Thr3711Lys Single submitter RYR1-related disorder
p.Thr4709Arg Single submitter RYR1-related disorder
p.Thr4920Asn Single submitter RYR1-related disorder

Conflicting classifications of pathogenicity 694

Showing the top 300 by review status; the full set is in the sitemap.

p.Arg2508Gly Expert panel RYR1-related myopathy ⚠
c.10018+7C>T Single submitter RYR1-related disorder
c.10260-11G>A Single submitter RYR1-related disorder
c.10260-12C>T Single submitter congenital multicore myopathy with external ophthalmoplegia
c.10440+1G>A Single submitter RYR1-related disorder
c.10440+4G>A Single submitter RYR1-related disorder
c.10440+7G>A Single submitter RYR1-related disorder
c.10441-8T>C Single submitter RYR1-related disorder
c.10686+4T>C Single submitter malignant hyperthermia, susceptibility to, 1
c.10824+13G>A Single submitter RYR1-related disorder
c.10824+2T>G Single submitter RYR1-related disorder
c.10824+8G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.10937+1G>C Single submitter RYR1-related disorder
c.10938-11C>T Single submitter congenital multicore myopathy with external ophthalmoplegia
c.10938-12T>A Single submitter malignant hyperthermia, susceptibility to, 1
c.10938-6del Single submitter RYR1-related disorder
c.10938-8C>A Single submitter RYR1-related disorder
c.10938-9C>T Single submitter RYR1-related disorder
c.11034+15G>A Single submitter RYR1-related disorder
c.11193+15C>G Single submitter RYR1-related disorder
c.11193+1G>A Single submitter central core myopathy
c.11193+2T>C Single submitter Inborn genetic diseases
c.11194-3C>T Single submitter malignant hyperthermia, susceptibility to, 1
c.1123-11C>T Single submitter RYR1-related disorder
c.1123-3T>C Single submitter malignant hyperthermia, susceptibility to, 1
c.11260-13C>T Single submitter RYR1-related disorder
c.11260-7T>G Single submitter RYR1-related disorder
c.11360-11_11360-10del Single submitter malignant hyperthermia, susceptibility to, 1
c.11439+9G>A Single submitter RYR1-related disorder
c.11590+1G>T Single submitter King-Denborough syndrome
c.11591-5C>G Single submitter RYR1-related disorder
c.11608+1G>C Single submitter RYR1-related disorder
c.11608+2T>C Single submitter malignant hyperthermia, susceptibility to, 1
c.11690-3del Single submitter RYR1-related disorder
c.11778+1G>T Single submitter malignant hyperthermia, susceptibility to, 1
c.11907+8G>A Single submitter RYR1-related disorder
c.12095-4G>A Single submitter RYR1-related disorder
c.12283-7C>T Single submitter congenital multicore myopathy with external ophthalmoplegia
c.12624+9A>G Single submitter RYR1-related disorder
c.12625-12C>G Single submitter RYR1-related disorder
c.13438-6C>G Single submitter RYR1-related disorder
c.13747-4T>G Single submitter RYR1-related disorder
c.13999-19G>A Single submitter RYR1-related disorder
c.14129+10C>A Single submitter congenital multicore myopathy with external ophthalmoplegia
c.14173-2A>G Single submitter congenital multicore myopathy with external ophthalmoplegia
c.14173-9C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.14304-10G>A Single submitter RYR1-related disorder
c.14304-6C>A Single submitter congenital multicore myopathy with external ophthalmoplegia
c.14364+1G>A Single submitter RYR1-related disorder
c.14364+5_14364+31dup Single submitter malignant hyperthermia, susceptibility to, 1
c.14365-6C>T Single submitter RYR1-related disorder
c.1440+2T>G Single submitter RYR1-related disorder
c.14512-1G>A Single submitter RYR1-related disorder
c.14646+20C>G Single submitter RYR1-related disorder
c.14647-3_14647del Single submitter RYR1-related disorder
c.14647-3C>T Single submitter RYR1-related disorder
c.14804-1G>T Single submitter RYR1-related disorder
c.14804-6C>T Single submitter Inborn genetic diseases
c.14869-14C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.14869-5C>G Single submitter central core myopathy
c.15021+2T>G Single submitter congenital multicore myopathy with external ophthalmoplegia
c.1577-5C>A Single submitter RYR1-related disorder
c.165+1G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.165+1G>T Single submitter congenital multicore myopathy with external ophthalmoplegia
c.166-3dup Single submitter RYR1-related disorder
c.1792-8A>T Single submitter RYR1-related disorder
c.1925+7C>T Single submitter RYR1-related disorder
c.2168-3dup Single submitter RYR1-related disorder
c.2361-4C>G Single submitter RYR1-related disorder
c.2577+1G>A Single submitter RYR1-related disorder
c.2682+13C>T Single submitter RYR1-related disorder
c.2682+7G>A Single submitter RYR1-related disorder
c.2683-15C>G Single submitter RYR1-related disorder
c.271-7C>G Single submitter RYR1-related disorder
c.2787-9C>G Single submitter RYR1-related disorder
c.3179-16C>T Single submitter RYR1-related disorder
c.3381+5G>A Single submitter central core myopathy
c.4160+1G>A Single submitter congenital fiber-type disproportion myopathy
c.4294-1G>C Single submitter malignant hyperthermia, susceptibility to, 1
c.4454+5C>T Single submitter malignant hyperthermia, susceptibility to, 1
c.46-4G>A Single submitter central core myopathy
c.4620+13C>T Single submitter RYR1-related disorder
c.4621-9_4621-7del Single submitter RYR1-related disorder
c.4708-14C>G Single submitter RYR1-related disorder
c.4708-5C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.4935-1G>C Single submitter malignant hyperthermia, susceptibility to, 1
c.537+12C>A Single submitter RYR1-related disorder
c.5548-19C>G Single submitter RYR1-related disorder
c.5548-3T>C Single submitter malignant hyperthermia, susceptibility to, 1
c.5548-9G>T Single submitter RYR1-related disorder
c.6016-5C>G Single submitter RYR1-related disorder
c.6128-13T>G Single submitter central core myopathy
c.6128-1G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.6128-3C>T Single submitter RYR1-related disorder
c.6275-11C>G Single submitter RYR1-related disorder
c.631+1G>T Single submitter RYR1-related disorder
c.6549-12G>C Single submitter RYR1-related disorder
c.6549-5C>T Single submitter RYR1-related disorder
c.6549-8G>A Single submitter RYR1-related disorder
c.6549-9C>T Single submitter RYR1-related disorder
c.6664-10C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.6664-2A>G Single submitter malignant hyperthermia, susceptibility to, 1
c.6664-5C>G Single submitter RYR1-related disorder
c.6797-1G>A Single submitter RYR1-related disorder
c.6797-3C>T Single submitter malignant hyperthermia, susceptibility to, 1
c.6797-6C>A Single submitter RYR1-related disorder
c.6891+2T>C Single submitter RYR1-related disorder
c.6892-6C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.7027+4A>T Single submitter malignant hyperthermia, susceptibility to, 1
c.7028-11C>G Single submitter RYR1-related disorder
c.7028-13T>C Single submitter RYR1-related disorder
c.7028-8G>A Single submitter RYR1-related disorder
c.7215-7C>G Single submitter RYR1-related disorder
c.725+6G>A Single submitter RYR1-related disorder
c.726-12C>G Single submitter RYR1-related disorder
c.7615-11del Single submitter malignant hyperthermia, susceptibility to, 1
c.7615-5C>T Single submitter RYR1-related disorder
c.7835+4_7835+5insGGCGG Single submitter RYR1-related disorder
c.7835+5_7835+26dup Single submitter RYR1-related disorder
c.7835+5_7835+9del Single submitter malignant hyperthermia, susceptibility to, 1
c.7836-14G>A Single submitter RYR1-related disorder
c.7836-2A>G Single submitter malignant hyperthermia, susceptibility to, 1
c.7836-6C>T Single submitter RYR1-related disorder
c.7927-4C>A Single submitter RYR1-related disorder
c.7927-7C>T Single submitter RYR1-related disorder
c.800+7C>T Single submitter RYR1-related disorder
c.8067+1G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.8232-1G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.8232-5A>G Single submitter malignant hyperthermia, susceptibility to, 1
c.8310+10A>G Single submitter RYR1-related disorder
c.8617-5C>T Single submitter malignant hyperthermia, susceptibility to, 1
c.8692+1G>T Single submitter RYR1-related disorder
c.8816+3A>G Single submitter RYR1-related disorder
c.8932+226C>T Single submitter central core myopathy
c.8932+4C>T Single submitter RYR1-related disorder
c.9001-15C>A Single submitter RYR1-related disorder
c.9001-2A>G Single submitter RYR1-related disorder
c.9001-8G>A Single submitter RYR1-related disorder
c.9122+7C>T Single submitter RYR1-related disorder
c.9122+8G>A Single submitter malignant hyperthermia, susceptibility to, 1
c.9123-12C>G Single submitter RYR1-related disorder
c.9123-14T>G Single submitter RYR1-related disorder
c.9123-4T>G Single submitter malignant hyperthermia, susceptibility to, 1
c.9234-11T>G Single submitter malignant hyperthermia, susceptibility to, 1
c.9472+9G>A Single submitter RYR1-related disorder
c.9473-7C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.9554+1G>A Single submitter RYR1-related disorder
c.9555-14G>A Single submitter RYR1-related disorder
c.9555-4C>T Single submitter RYR1-related disorder
c.9555-7C>G Single submitter malignant hyperthermia, susceptibility to, 1
c.9555-9G>A Single submitter RYR1-related disorder
c.9685+16C>T Single submitter RYR1-related disorder
c.9685+8G>T Single submitter RYR1-related disorder
c.*135C>T Single submitter congenital multicore myopathy with external ophthalmoplegia
p.4271GAE[1] Single submitter RYR1-related disorder
p.4285TAA[1] Single submitter congenital multicore myopathy with external ophthalmoplegia
p.4285TAA[3] Single submitter RYR1-related disorder
p.4318RRL[1] Single submitter intellectual disability
p.Ala1041= Single submitter RYR1-related disorder
p.Ala1310= Single submitter malignant hyperthermia, susceptibility to, 1
p.Ala1352= Single submitter RYR1-related disorder
p.Ala1363Val Single submitter RYR1-related disorder
p.Ala1372Val Single submitter RYR1-related disorder ⚠
p.Ala1449Val Single submitter RYR1-related disorder ⚠
p.Ala1550= Single submitter RYR1-related disorder
p.Ala1626= Single submitter RYR1-related disorder
p.Ala1637= Single submitter RYR1-related disorder
p.Ala1784= Single submitter malignant hyperthermia, susceptibility to, 1
p.Ala1788= Single submitter RYR1-related disorder
p.Ala2119= Single submitter malignant hyperthermia, susceptibility to, 1
p.Ala2200= Single submitter RYR1-related disorder
p.Ala2287Asp Single submitter RYR1-related disorder ⚠
p.Ala2421Ser Single submitter central core myopathy ⚠
p.Ala2421Thr Single submitter RYR1-related disorder ⚠
p.Ala2539= Single submitter RYR1-related disorder
p.Ala2705= Single submitter RYR1-related disorder
p.Ala2936= Single submitter RYR1-related disorder
p.Ala3072Val Single submitter malignant hyperthermia, susceptibility to, 1
p.Ala3118= Single submitter RYR1-related disorder
p.Ala3204Val Single submitter RYR1-related disorder ⚠
p.Ala325= Single submitter RYR1-related disorder
p.Ala3298Thr Single submitter RYR1-related disorder ⚠
p.Ala3385Val Single submitter RYR1-related disorder
p.Ala3421= Single submitter RYR1-related disorder
p.Ala3526= Single submitter RYR1-related disorder
p.Ala3601= Single submitter RYR1-related disorder
p.Ala3774Val Single submitter Malignant hypothermia
p.Ala3775= Single submitter RYR1-related disorder
p.Ala400Thr Single submitter RYR1-related disorder
p.Ala4287_Ala4290delinsVal Single submitter RYR1-related disorder
p.Ala4290Val Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala4293Val Single submitter congenital multicore myopathy with external ophthalmoplegia ⚠
p.Ala4348= Single submitter King-Denborough syndrome
p.Ala4371= Single submitter RYR1-related disorder
p.Ala4397= Single submitter RYR1-related disorder
p.Ala4397Gly Single submitter RYR1-related disorder ⚠
p.Ala4415_Asp4421del Single submitter RYR1-related disorder
p.Ala4463Val Single submitter RYR1-related disorder ⚠
p.Ala4846Val Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala4894Pro Single submitter RYR1-related disorder ⚠
p.Ala652= Single submitter RYR1-related disorder
p.Ala697= Single submitter RYR1-related disorder
p.Ala882= Single submitter malignant hyperthermia, susceptibility to, 1
p.Ala941= Single submitter RYR1-related disorder
p.Ala941Val Single submitter Inborn genetic diseases
p.Ala945= Single submitter RYR1-related disorder
p.Arg1016Ter Single submitter malignant hyperthermia, susceptibility to, 1
p.Arg1072= Single submitter RYR1-related disorder
p.Arg109Gln Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg109Trp Single submitter congenital multicore myopathy with external ophthalmoplegia ⚠
p.Arg1127= Single submitter RYR1-related disorder
p.Arg1140= Single submitter RYR1-related disorder
p.Arg114His Single submitter RYR1-related disorder
p.Arg1179Trp Single submitter RYR1-related disorder
p.Arg1371Ser Single submitter RYR1-related disorder
p.Arg1409Ter Single submitter King-Denborough syndrome
p.Arg1469Trp Single submitter RYR1-related disorder
p.Arg1593Trp Single submitter RYR1-related disorder ⚠
p.Arg1645Gln Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1660= Single submitter RYR1-related disorder
p.Arg1707= Single submitter RYR1-related disorder
p.Arg1707Cys Single submitter RYR1-related disorder ⚠
p.Arg1707His Single submitter RYR1-related disorder ⚠
p.Arg1727His Single submitter RYR1-related disorder ⚠
p.Arg1772Gly Single submitter congenital multicore myopathy with external ophthalmoplegia
p.Arg177His Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1820Leu Single submitter RYR1-related disorder ⚠
p.Arg1974Trp Single submitter RYR1-related disorder
p.Arg1999Cys Single submitter RYR1-related disorder ⚠
p.Arg2071Trp Single submitter RYR1-related disorder ⚠
p.Arg2084Gln Single submitter RYR1-related disorder ⚠
p.Arg2118Pro Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2140Trp Single submitter RYR1-related disorder
p.Arg220Cys Single submitter congenital multicore myopathy with external ophthalmoplegia ⚠
p.Arg2234Cys Single submitter RYR1-related disorder ⚠
p.Arg2234His Single submitter RYR1-related disorder ⚠
p.Arg2241Ter Single submitter RYR1-related disorder
p.Arg2355Gln Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2369= Single submitter RYR1-related disorder
p.Arg2415Gln Single submitter RYR1-related disorder
p.Arg2435Cys Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg256His Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2593fs Single submitter RYR1-related disorder
p.Arg2600= Single submitter RYR1-related disorder
p.Arg2612= Single submitter RYR1-related disorder
p.Arg274His Single submitter malignant hyperthermia, susceptibility to, 1
p.Arg280Gln Single submitter congenital multicore myopathy with external ophthalmoplegia ⚠
p.Arg282Trp Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2939Lys Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3119Cys Single submitter RYR1-related disorder
p.Arg316His Single submitter RYR1-related disorder ⚠
p.Arg3287Cys Single submitter central core myopathy ⚠
p.Arg328Gln Single submitter malignant hyperthermia, susceptibility to, 1
p.Arg3350Gln Single submitter RYR1-related disorder
p.Arg3366Leu Single submitter RYR1-related disorder
p.Arg3453= Single submitter RYR1-related disorder
p.Arg3539fs Single submitter RYR1-related disorder
p.Arg3577Trp Single submitter RYR1-related disorder
p.Arg3629Trp Single submitter RYR1-related disorder ⚠
p.Arg367Trp Single submitter RYR1-related disorder ⚠
p.Arg3772Leu Single submitter RYR1-related disorder ⚠
p.Arg3867Cys Single submitter Elevated circulating creatine kinase activity
p.Arg4084His Single submitter RYR1-related disorder
p.Arg4318= Single submitter RYR1-related disorder
p.Arg4319Gln Single submitter RYR1-related disorder
p.Arg4564Gln Single submitter RYR1-related disorder ⚠
p.Arg4564Trp Single submitter RYR1-related disorder ⚠
p.Arg4825His Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg4861= Single submitter RYR1-related disorder
p.Arg4861Ser Single submitter RYR1-related disorder ⚠
p.Arg5030Cys Single submitter RYR1-related disorder ⚠
p.Arg5030His Single submitter RYR1-related disorder ⚠
p.Arg530Cys Single submitter RYR1-related disorder ⚠
p.Arg552Gln Single submitter RYR1-related disorder ⚠
p.Arg651Ter Single submitter RYR1-related disorder
p.Arg682Gln Single submitter RYR1-related disorder ⚠
p.Arg682Trp Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg75Ter Single submitter malignant hyperthermia, susceptibility to, 1
p.Arg789Gln Single submitter RYR1-related disorder ⚠
p.Arg829Ter Single submitter RYR1-related disorder
p.Arg830Trp Single submitter RYR1-related disorder
p.Arg868His Single submitter Inborn genetic diseases
p.Arg986Cys Single submitter RYR1-related disorder ⚠
p.Asn1346Lys Single submitter RYR1-related disorder ⚠
p.Asn1419= Single submitter RYR1-related disorder
p.Asn1570= Single submitter RYR1-related disorder
p.Asn2213= Single submitter RYR1-related disorder
p.Asn2342= Single submitter RYR1-related disorder
p.Asn2351His Single submitter RYR1-related disorder
p.Asn2634Lys Single submitter RYR1-related disorder
p.Asn3211Lys Single submitter malignant hyperthermia, susceptibility to, 1
p.Asn3234Ser Single submitter Inborn genetic diseases
p.Asn3466= Single submitter RYR1-related disorder
p.Asn3555Ile Single submitter RYR1-related disorder
p.Asn3866Ser Single submitter malignant hyperthermia, susceptibility to, 1 ⚠
p.Asn4222= Single submitter RYR1-related disorder
p.Asn4788= Single submitter malignant hyperthermia, susceptibility to, 1
p.Asn4858Ser Single submitter RYR1-related disorder ⚠
p.Asn4865del Single submitter RYR1-related disorder
p.Asn56= Single submitter malignant hyperthermia, susceptibility to, 1

Benign 290

c.-108T>C Expert panel RYR1-related myopathy
p.Ala1352Gly Expert panel malignant hyperthermia, susceptibility to, 1
p.Ala3118Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Ala4295Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Ala933Thr Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg1667Cys Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp4505His Expert panel malignant hyperthermia, susceptibility to, 1
p.Gln3756Glu Expert panel malignant hyperthermia, susceptibility to, 1
p.Glu3583Gln Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly2060Cys Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly893Ser Expert panel RYR1-related myopathy
p.Ile2321Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Lys1393Arg Expert panel malignant hyperthermia of anesthesia
p.Pro1773Ser Expert panel malignant hyperthermia, susceptibility to, 1
p.Pro1787Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Pro4501Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Ser1342Gly Expert panel malignant hyperthermia, susceptibility to, 1
p.Thr4294Met Expert panel malignant hyperthermia, susceptibility to, 1
c.10259+217T>G Multiple submitters
c.10440+235T>C Multiple submitters
c.10441-49C>T Multiple submitters
c.10455+73C>T Multiple submitters
c.10687-10C>T Multiple submitters RYR1-related disorder
c.10687-126A>G Multiple submitters
c.10825-218C>G Multiple submitters
c.10938-86A>G Multiple submitters
c.11141+55C>T Multiple submitters
c.1122+52T>C Multiple submitters
c.11260-19T>G Multiple submitters RYR1-related disorder
c.11609-133A>T Multiple submitters
c.11689+159T>C Multiple submitters
c.11689+159T>G Multiple submitters
c.11907+22G>A Multiple submitters
c.11908-14A>G Multiple submitters RYR1-related disorder
c.11908-23C>T Multiple submitters
c.11908-25C>G Multiple submitters
c.12012+18C>A Multiple submitters RYR1-related disorder
c.12012+97G>A Multiple submitters
c.12094+11A>G Multiple submitters RYR1-related disorder
c.12283-98T>C Multiple submitters
c.1244+189G>A Multiple submitters
c.1245-29C>T Multiple submitters
c.12624+14C>T Multiple submitters RYR1-related disorder
c.13515-239C>G Multiple submitters
c.13660-78C>A Multiple submitters
c.13998+52T>G Multiple submitters
c.13999-198G>C Multiple submitters
c.14130-201G>A Multiple submitters
c.1440+74G>A Multiple submitters
c.14646+113C>T Multiple submitters
c.14647-1451del Multiple submitters
c.14647-36G>A Multiple submitters
c.14969+32G>C Multiple submitters
c.14969+72C>T Multiple submitters
c.15021+37G>T Multiple submitters
c.165+169G>A Multiple submitters
c.166-163G>C Multiple submitters
c.166-44G>C Multiple submitters
c.1672+29G>C Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.1792-103C>T Multiple submitters
c.1925+150C>G Multiple submitters
c.1925+86T>C Multiple submitters
c.2167+31C>G Multiple submitters
c.2168-57T>G Multiple submitters
c.2361-42A>G Multiple submitters
c.2361-68C>T Multiple submitters
c.2578-67A>G Multiple submitters
c.270+27G>A Multiple submitters
c.271-148A>G Multiple submitters
c.3179-122C>T Multiple submitters
c.3765+154C>G Multiple submitters
c.4160+79A>C Multiple submitters
c.4161-74G>T Multiple submitters
c.4293+121T>C Multiple submitters
c.4293+166T>C Multiple submitters
c.4294-125G>T Multiple submitters
c.4454+29G>A Multiple submitters
c.45+121A>G Multiple submitters
c.4935-53T>G Multiple submitters
c.5548-76G>A Multiple submitters
c.5814+35C>G Multiple submitters
c.5815-123G>A Multiple submitters
c.5815-50C>T Multiple submitters
c.6015+87C>T Multiple submitters
c.6128-184A>T Multiple submitters
c.631+49C>T Multiple submitters
c.6548+195T>C Multiple submitters
c.6548+228C>T Multiple submitters
c.6548+43G>A Multiple submitters
c.6549-157C>T Multiple submitters
c.6664-32A>G Multiple submitters
c.7027+27C>T Multiple submitters
c.7614+10C>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7615-68C>T Multiple submitters
c.7835+27G>C Multiple submitters
c.7835+5A>G Multiple submitters central core myopathy
c.7836-66A>G Multiple submitters
c.7926+28A>G Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.800+142T>G Multiple submitters
c.8067+152G>A Multiple submitters
c.8068-155A>G Multiple submitters
c.8068-29_8068-27del Multiple submitters King-Denborough syndrome
c.8617-35C>T Multiple submitters King-Denborough syndrome
c.8692+137T>C Multiple submitters
c.8692+28T>G Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.8693-10G>C Multiple submitters central core myopathy
c.8816+17T>A Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.8816+43A>C Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.8816+87G>T Multiple submitters
c.8817-63A>G Multiple submitters
c.8932+34dup Multiple submitters King-Denborough syndrome
c.8933-192A>G Multiple submitters
c.9123-61C>T Multiple submitters
c.9173-21C>T Multiple submitters
c.9173-98T>G Multiple submitters
c.9472+30C>T Multiple submitters
c.9554+101A>G Multiple submitters
c.9554+190G>T Multiple submitters
c.9555-13C>T Multiple submitters RYR1-related disorder
c.9685+233T>C Multiple submitters
p.Arg2403= Multiple submitters RYR1-related disorder
p.Asn993= Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Asp2730= Multiple submitters central core myopathy
p.Asp668= Multiple submitters RYR1-related disorder
p.Gly1704= Multiple submitters RYR1-related disorder
p.His2420= Multiple submitters RYR1-related disorder
p.His2621= Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Ile2706= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Leu1286= Multiple submitters RYR1-related disorder
p.Leu3230= Multiple submitters RYR1-related disorder
p.Lys2013= Multiple submitters RYR1-related disorder
p.Pro1369= Multiple submitters RYR1-related disorder
p.Pro3062= Multiple submitters RYR1-related disorder
p.Pro762= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ser4557= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ser556= Multiple submitters central core myopathy
p.Thr2659= Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Thr3918= Multiple submitters RYR1-related disorder
p.Thr981= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Tyr3406= Multiple submitters RYR1-related disorder
p.Val2509= Multiple submitters RYR1-related disorder
c.10018+13dup Single submitter RYR1-related disorder
c.10018+167G>A Single submitter
c.10019-203C>T Single submitter
c.10019-253C>T Single submitter
c.10019-269T>G Single submitter
c.10259+10dup Single submitter RYR1-related disorder
c.10260-164_10260-161del Single submitter
c.10260-214G>C Single submitter
c.10348-6dup Single submitter RYR1-related disorder
c.10455+274dup Single submitter
c.10627-255T>C Single submitter
c.10824+158_10824+159insA Single submitter
c.10937+11del Single submitter RYR1-related disorder
c.11141+252C>T Single submitter
c.11141+253G>A Single submitter
c.11193+17del Single submitter RYR1-related disorder
c.1123-156G>A Single submitter
c.11259+294del Single submitter
c.11360-105C>G Single submitter
c.11590+220del Single submitter
c.11591-113_11591-110del Single submitter
c.11689+218T>C Single submitter
c.12012+73del Single submitter
c.12095-129G>C Single submitter
c.12283-248T>G Single submitter
c.12283-56dup Single submitter
c.1244+204G>A Single submitter
c.1244+260_1244+266del Single submitter
c.1244+264_1244+266dup Single submitter
c.1244+265_1244+266dup Single submitter
c.1244+266del Single submitter
c.1244+266dup Single submitter
c.1245-218C>T Single submitter
c.12625-10dup Single submitter RYR1-related disorder
c.12625-256C>T Single submitter
c.13437+18del Single submitter RYR1-related disorder
c.13747-273T>A Single submitter
c.14173-114dup Single submitter
c.14173-315C>T Single submitter
c.14364+226C>T Single submitter
c.1440+296G>A Single submitter
c.1441-235A>G Single submitter
c.14647-191T>C Single submitter
c.14803+271AT[10] Single submitter
c.14803+271AT[11] Single submitter
c.14803+271AT[12] Single submitter
c.14804-124C>T Single submitter
c.15022-69AT[9] Single submitter
c.1791+233_1791+238del Single submitter
c.1791+237_1791+238dup Single submitter
c.1791+238dup Single submitter
c.1792-217G>C Single submitter
c.1926-174C>G Single submitter
c.2167+321T>A Single submitter
c.2167+322G>T Single submitter
c.2167+325T>A Single submitter
c.2167+326G>T Single submitter
c.2168-195C>T Single submitter
c.2168-281C>T Single submitter
c.2360+16dup Single submitter RYR1-related disorder
c.2577+113G>A Single submitter
c.270+20dup Single submitter RYR1-related disorder
c.270+322A>C Single submitter
c.271-293A>G Single submitter
c.2786+129T>G Single submitter
c.2786+149G>A Single submitter
c.2787-265A>G Single submitter
c.2787-3del Single submitter RYR1-related disorder
c.2870+221G>A Single submitter
c.3178+124dup Single submitter
c.3179-153C>T Single submitter
c.3381+234_3381+245del Single submitter
c.3381+237CATC[6] Single submitter
c.3381+237dup Single submitter
c.3381+238_3381+240del Single submitter
c.3381+241del Single submitter
c.3381+245del Single submitter
c.3381+287_3381+294del Single submitter
c.4160+114T>G Single submitter
c.4160+130A>G Single submitter
c.4161-224C>T Single submitter
c.4161-246A>C Single submitter
c.4293+199A>G Single submitter
c.4293+240A>G Single submitter
c.4294-246C>A Single submitter
c.4294-320T>G Single submitter
c.4454+106T>C Single submitter
c.4454+17del Single submitter RYR1-related disorder
c.4454+234dup Single submitter
c.4454+265T>C Single submitter
c.4455-135T>G Single submitter
c.45+22del Single submitter RYR1-related disorder
c.45+300T>C Single submitter
c.45+32C>A Single submitter
c.4620+256C>T Single submitter
c.4621-288C>T Single submitter
c.538-3del Single submitter RYR1-related disorder
c.5547+180C>T Single submitter
c.5548-261A>T Single submitter
c.5815-227T>C Single submitter
c.6016-4dup Single submitter RYR1-related disorder
c.6127+167C>T Single submitter
c.6127+340T>C Single submitter
c.6128-113del Single submitter
c.6128-113dup Single submitter
c.6128-114_6128-113dup Single submitter
c.6128-281T>C Single submitter
c.6274+13del Single submitter RYR1-related disorder
c.6274+258C>A Single submitter
c.6274+299C>T Single submitter
c.632-276C>T Single submitter
c.6548+227_6548+228insT Single submitter
c.6548+243del Single submitter
c.6891+251G>C Single submitter
c.6891+272T>G Single submitter
c.6892-89GCAGG[3] Single submitter
c.7028-129C>T Single submitter
c.7028-190_7028-146del Single submitter
c.7614+259C>T Single submitter
c.7615-237A>C Single submitter
c.7615-295C>T Single submitter
c.7835+11dup Single submitter RYR1-related disorder
c.7835+25GGGGCA[10] Single submitter
c.7835+25GGGGCA[6] Single submitter
c.7835+25GGGGCA[7] Single submitter
c.7835+25GGGGCA[8] Single submitter
c.7835+68_7836-50del Single submitter
c.7835+74_7836-50del Single submitter
c.7835+75_7836-67dup Single submitter
c.7836-73_7836-50del Single submitter
c.7927-109_7927-107del Single submitter
c.8067+21del Single submitter RYR1-related disorder
c.8616+20dup Single submitter RYR1-related disorder
c.8693-103_8693-102insATC Single submitter
c.8816+171C>A Single submitter
c.8816+204_8816+206dup Single submitter
c.8816+276A>G Single submitter
c.8816+304C>T Single submitter
c.8932+100_8932+110del Single submitter
c.8932+19del Single submitter RYR1-related disorder
c.8932+19dup Single submitter RYR1-related disorder
c.8932+304A>G Single submitter
c.8933-269G>A Single submitter
c.9001-14dup Single submitter RYR1-related disorder
c.9122+329A>G Single submitter
c.9123-302G>C Single submitter
c.9686-146G>A Single submitter
p.Gly1832Ala No assertion criteria central core myopathy
p.Leu2550Val No assertion criteria central core myopathy

Benign/Likely benign 110

p.Asn2342Ser Expert panel RYR1-related myopathy
c.10259+10G>A Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.10259+7G>A Multiple submitters RYR1-related disorder
c.10441-10G>A Multiple submitters RYR1-related disorder
c.10687-7C>T Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.10824+19dup Multiple submitters RYR1-related disorder
c.10825-11C>A Multiple submitters RYR1-related disorder
c.10937+39G>A Multiple submitters
c.10938-17A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11034+20G>T Multiple submitters RYR1-related disorder
c.11141+7A>G Multiple submitters RYR1-related disorder
c.11193+15C>T Multiple submitters RYR1-related disorder
c.11194-8dup Multiple submitters malignant hyperthermia, susceptibility to, 1
c.1123-9del Multiple submitters RYR1-related disorder
c.11259+8G>A Multiple submitters RYR1-related disorder
c.11360-9T>A Multiple submitters RYR1-related disorder
c.11609-13C>T Multiple submitters RYR1-related disorder
c.12012+19T>C Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.13660-10T>C Multiple submitters RYR1-related disorder
c.14130-8C>G Multiple submitters RYR1-related disorder
c.14130-9T>G Multiple submitters RYR1-related disorder
c.14647-1447_14647-1446del Multiple submitters RYR1-related disorder
c.14647-1887G>A Multiple submitters
c.14969+16G>A Multiple submitters RYR1-related disorder
c.1577-6C>G Multiple submitters RYR1-related disorder
c.2168-30C>T Multiple submitters
c.2577+25T>C Multiple submitters
c.2786+20G>A Multiple submitters RYR1-related disorder
c.2870+19G>A Multiple submitters RYR1-related disorder
c.2871-5C>T Multiple submitters RYR1-related disorder
c.345+15G>A Multiple submitters RYR1-related disorder
c.3557-6C>T Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.3766-6C>A Multiple submitters RYR1-related disorder
c.4161-6T>C Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.425-19A>G Multiple submitters RYR1-related disorder
c.4621-34C>T Multiple submitters
c.6127+3A>G Multiple submitters RYR1-related disorder
c.631+39dup Multiple submitters King-Denborough syndrome
c.6797-50A>G Multiple submitters
c.7214+21del Multiple submitters RYR1-related disorder
c.7323+20C>A Multiple submitters RYR1-related disorder
c.7614+16C>T Multiple submitters RYR1-related disorder
c.7615-7G>A Multiple submitters RYR1-related disorder
c.7835+16C>T Multiple submitters RYR1-related disorder
c.7835+7C>T Multiple submitters RYR1-related disorder
c.7836-17T>C Multiple submitters RYR1-related disorder
c.7836-7C>T Multiple submitters RYR1-related disorder
c.8068-14C>T Multiple submitters RYR1-related disorder
c.8616+43G>C Multiple submitters
c.8816+16C>T Multiple submitters RYR1-related disorder
c.-102C>T Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Ala1014= Multiple submitters RYR1-related disorder
p.Ala2427= Multiple submitters RYR1-related disorder
p.Ala2727Thr Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ala291= Multiple submitters RYR1-related disorder
p.Ala3257= Multiple submitters RYR1-related disorder
p.Ala3875= Multiple submitters RYR1-related disorder
p.Ala874= Multiple submitters RYR1-related disorder
p.Arg1109Lys Multiple submitters RYR1-related disorder
p.Arg1679= Multiple submitters RYR1-related disorder
p.Arg2244= Multiple submitters RYR1-related disorder
p.Asn1481= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Asp1206= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Asp191= Multiple submitters RYR1-related disorder
p.Asp2129= Multiple submitters RYR1-related disorder
p.Asp2943Asn Multiple submitters RYR1-related disorder
p.Asp302= Multiple submitters King-Denborough syndrome
p.Asp3396= Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.Asp384= Multiple submitters RYR1-related disorder
p.Asp4697= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Asp741= Multiple submitters RYR1-related disorder
p.Cys2363= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Gln2620= Multiple submitters RYR1-related disorder
p.Gln3849= Multiple submitters RYR1-related disorder
p.Glu1874= Multiple submitters RYR1-related disorder
p.Glu1878Asp Multiple submitters RYR1-related disorder
p.Glu1891del Multiple submitters RYR1-related disorder
p.Glu3391= Multiple submitters RYR1-related disorder
p.Glu4283Lys Multiple submitters RYR1-related disorder
p.Gly1831= Multiple submitters RYR1-related disorder
p.Gly1855= Multiple submitters RYR1-related disorder
p.His2204= Multiple submitters RYR1-related disorder
p.His3647Gln Multiple submitters RYR1-related disorder
p.His3981Tyr Multiple submitters RYR1-related disorder
p.His973= Multiple submitters RYR1-related disorder
p.Leu1292= Multiple submitters RYR1-related disorder
p.Leu198= Multiple submitters central core myopathy
p.Leu2166= Multiple submitters King-Denborough syndrome
p.Leu409= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Leu4687= Multiple submitters RYR1-related disorder
p.Leu72= Multiple submitters RYR1-related disorder
p.Leu747= Multiple submitters RYR1-related disorder
p.Phe2340= Multiple submitters RYR1-related disorder
p.Phe4863= Multiple submitters RYR1-related disorder
p.Pro1316Thr Multiple submitters RYR1-related disorder
p.Pro1573= Multiple submitters RYR1-related disorder
p.Pro1586= Multiple submitters RYR1-related disorder
p.Pro2528= Multiple submitters RYR1-related disorder
p.Pro3138= Multiple submitters congenital fiber-type disproportion myopathy
p.Pro4488= Multiple submitters RYR1-related disorder
p.Pro4501= Multiple submitters RYR1-related disorder
p.Pro4642= Multiple submitters RYR1-related disorder
p.Pro805= Multiple submitters RYR1-related disorder
p.Ser2983= Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ser3294= Multiple submitters RYR1-related disorder
p.Thr1634= Multiple submitters RYR1-related disorder
p.Thr641= Multiple submitters RYR1-related disorder
p.Thr99= Multiple submitters RYR1-related disorder
p.Tyr2128= Multiple submitters RYR1-related disorder
p.Val299= Multiple submitters King-Denborough syndrome

Likely benign 3698

Showing the top 300 by review status; the full set is in the sitemap.

c.958-11del Expert panel RYR1-related myopathy
p.Ala140Thr Expert panel malignant hyperthermia, susceptibility to, 1
p.Ala3031= Expert panel RYR1-related myopathy
p.Ala4185Thr Expert panel malignant hyperthermia of anesthesia
p.Arg1075Gln Expert panel malignant hyperthermia of anesthesia
p.Arg1679His Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2224Cys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3350= Expert panel RYR1-related myopathy
p.Arg3366His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3539His Expert panel malignant hyperthermia of anesthesia
p.Arg4136Ser Expert panel malignant hyperthermia of anesthesia
p.Arg4723His Expert panel malignant hyperthermia of anesthesia
p.Cys2606Ser Expert panel malignant hyperthermia of anesthesia
p.Gln4837fs Expert panel malignant hyperthermia of anesthesia
p.Gly4104Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Ile1571Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Pro816Leu Expert panel malignant hyperthermia of anesthesia
p.Tyr3933Cys Expert panel malignant hyperthermia of anesthesia
c.10018+8G>A Multiple submitters RYR1-related disorder
c.10019-12G>A Multiple submitters RYR1-related disorder
c.10019-13C>T Multiple submitters RYR1-related disorder
c.10019-6C>T Multiple submitters RYR1-related disorder
c.10019-7C>T Multiple submitters RYR1-related disorder
c.10259+10G>C Multiple submitters RYR1-related disorder
c.10259+15G>A Multiple submitters RYR1-related disorder
c.10259+17T>C Multiple submitters RYR1-related disorder
c.10347+16_10347+22del Multiple submitters RYR1-related disorder
c.10347+17A>G Multiple submitters RYR1-related disorder
c.10347+19C>T Multiple submitters RYR1-related disorder
c.10348-7C>T Multiple submitters RYR1-related disorder
c.10348-8C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10440+21G>C Multiple submitters
c.10440+9T>C Multiple submitters RYR1-related disorder
c.10441-11C>T Multiple submitters RYR1-related disorder
c.10441-4G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10441-6A>G Multiple submitters RYR1-related disorder
c.10455+12A>G Multiple submitters RYR1-related disorder
c.10456-12G>C Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10626+17G>A Multiple submitters RYR1-related disorder
c.10627-4C>T Multiple submitters RYR1-related disorder
c.10687-11C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10687-13_10687-11del Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10687-15T>C Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10687-9_10687-7del Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10825-105C>T Multiple submitters
c.10825-11C>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10825-45G>A Multiple submitters
c.10825-9C>T Multiple submitters RYR1-related disorder
c.10938-12_10938-11delinsAT Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10938-12T>C Multiple submitters RYR1-related disorder
c.10938-16C>T Multiple submitters RYR1-related disorder
c.10938-4G>A Multiple submitters RYR1-related disorder
c.10938-8C>T Multiple submitters RYR1-related disorder
c.11034+7T>C Multiple submitters RYR1-related disorder
c.11141+9T>G Multiple submitters RYR1-related disorder
c.11142-151T>A Multiple submitters
c.11142-6C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11259+17G>A Multiple submitters RYR1-related disorder
c.11259+7G>A Multiple submitters RYR1-related disorder
c.11260-5C>T Multiple submitters RYR1-related disorder
c.11360-6C>T Multiple submitters RYR1-related disorder
c.11440-12C>T Multiple submitters RYR1-related disorder
c.11516+276G>A Multiple submitters
c.11516+9G>A Multiple submitters RYR1-related disorder
c.11516+9G>C Multiple submitters RYR1-related disorder
c.11517-5C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11517-7T>C Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11590+18G>T Multiple submitters RYR1-related disorder
c.11591-7G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11608+10C>T Multiple submitters RYR1-related disorder
c.11609-15C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11609-17C>G Multiple submitters RYR1-related disorder
c.11689+68A>G Multiple submitters
c.11778+13G>A Multiple submitters RYR1-related disorder
c.11778+9G>A Multiple submitters RYR1-related disorder
c.11779-11G>A Multiple submitters RYR1-related disorder
c.11907+15C>T Multiple submitters RYR1-related disorder
c.11907+50C>T Multiple submitters
c.11908-24C>G Multiple submitters
c.12012+11C>T Multiple submitters RYR1-related disorder
c.12013-14G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12013-15A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12013-18C>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12013-4C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12094+95C>G Multiple submitters
c.12095-13G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12095-8G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12282+17G>A Multiple submitters RYR1-related disorder
c.12282+17G>C Multiple submitters RYR1-related disorder
c.12282+92A>G Multiple submitters
c.12283-6C>T Multiple submitters RYR1-related disorder
c.12283-8G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12283-9C>T Multiple submitters RYR1-related disorder
c.1244+16T>C Multiple submitters RYR1-related disorder
c.12624+10C>T Multiple submitters RYR1-related disorder
c.12624+12C>A Multiple submitters RYR1-related disorder
c.12624+61C>G Multiple submitters
c.12625-20T>C Multiple submitters RYR1-related disorder
c.12625-7G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12625-8C>T Multiple submitters RYR1-related disorder
c.13437+15G>C Multiple submitters RYR1-related disorder
c.13438-12C>A Multiple submitters RYR1-related disorder
c.13438-15T>C Multiple submitters RYR1-related disorder
c.13438-18T>C Multiple submitters RYR1-related disorder
c.13438-5C>T Multiple submitters RYR1-related disorder
c.13514+65C>T Multiple submitters
c.13515-7C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.13747-13G>A Multiple submitters RYR1-related disorder
c.13747-15C>T Multiple submitters RYR1-related disorder
c.13998+15A>C Multiple submitters RYR1-related disorder
c.13998+9A>G Multiple submitters RYR1-related disorder
c.13999-41A>G Multiple submitters
c.14129+13C>T Multiple submitters RYR1-related disorder
c.14130-12C>G Multiple submitters RYR1-related disorder
c.14130-13del Multiple submitters RYR1-related disorder
c.14130-13T>C Multiple submitters RYR1-related disorder
c.14130-19TC[5] Multiple submitters RYR1-related disorder
c.14130-19TC[8] Multiple submitters RYR1-related disorder
c.14130-8C>T Multiple submitters RYR1-related disorder
c.14173-6G>C Multiple submitters RYR1-related disorder
c.14303+17C>G Multiple submitters RYR1-related disorder
c.14304-11C>T Multiple submitters RYR1-related disorder
c.14304-13C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14364+38G>A Multiple submitters
c.14365-16C>T Multiple submitters RYR1-related disorder
c.1440+10T>A Multiple submitters RYR1-related disorder
c.1440+20G>A Multiple submitters RYR1-related disorder
c.1440+47G>A Multiple submitters
c.1440+8C>G Multiple submitters RYR1-related disorder
c.1440+8C>T Multiple submitters RYR1-related disorder
c.14511+8G>A Multiple submitters RYR1-related disorder
c.14512-10C>T Multiple submitters RYR1-related disorder
c.14512-11C>T Multiple submitters RYR1-related disorder
c.14512-8G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14647-10C>T Multiple submitters RYR1-related disorder
c.14647-1450_14647-1449del Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14647-5C>T Multiple submitters RYR1-related disorder
c.14804-10G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14869-9C>T Multiple submitters RYR1-related disorder
c.14970-14C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14970-9C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.15022-11C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.15022-14A>G Multiple submitters RYR1-related disorder
c.15022-5C>T Multiple submitters RYR1-related disorder
c.1576+6G>A Multiple submitters RYR1-related disorder
c.1577-15C>T Multiple submitters RYR1-related disorder
c.1577-16C>T Multiple submitters RYR1-related disorder
c.1577-5C>G Multiple submitters RYR1-related disorder
c.1577-6C>A Multiple submitters RYR1-related disorder
c.1577-6C>T Multiple submitters RYR1-related disorder
c.1577-7C>G Multiple submitters RYR1-related disorder
c.1577-8C>A Multiple submitters RYR1-related disorder
c.1577-8C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.1577-9C>T Multiple submitters RYR1-related disorder
c.166-10C>T Multiple submitters RYR1-related disorder
c.166-15C>A Multiple submitters RYR1-related disorder
c.166-15C>T Multiple submitters RYR1-related disorder
c.166-4C>T Multiple submitters RYR1-related disorder
c.166-9C>T Multiple submitters RYR1-related disorder
c.1672+13G>A Multiple submitters RYR1-related disorder
c.1673-11C>T Multiple submitters RYR1-related disorder
c.1673-19A>G Multiple submitters RYR1-related disorder
c.1791+14C>T Multiple submitters RYR1-related disorder
c.1792-10T>C Multiple submitters RYR1-related disorder
c.1792-17C>T Multiple submitters RYR1-related disorder
c.1925+18T>C Multiple submitters RYR1-related disorder
c.1925+19G>A Multiple submitters RYR1-related disorder
c.1926-18G>C Multiple submitters RYR1-related disorder
c.1926-6C>T Multiple submitters RYR1-related disorder
c.1926-9C>T Multiple submitters RYR1-related disorder
c.2360+16C>T Multiple submitters RYR1-related disorder
c.2361-3C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.2361-5C>T Multiple submitters RYR1-related disorder
c.2577+31G>C Multiple submitters
c.2578-12dup Multiple submitters RYR1-related disorder
c.2578-19A>G Multiple submitters RYR1-related disorder
c.2578-23C>G Multiple submitters
c.2578-8G>A Multiple submitters RYR1-related disorder
c.2682+24G>A Multiple submitters
c.270+10_270+14del Multiple submitters RYR1-related disorder
c.270+10C>T Multiple submitters RYR1-related disorder
c.271-6C>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.2786+19C>T Multiple submitters RYR1-related disorder
c.2787-13C>A Multiple submitters RYR1-related disorder
c.2787-16A>G Multiple submitters RYR1-related disorder
c.2787-41C>G Multiple submitters
c.2787-66G>A Multiple submitters
c.2787-77A>T Multiple submitters
c.2787-7C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.2871-4G>A Multiple submitters RYR1-related disorder
c.2871-4G>T Multiple submitters RYR1-related disorder
c.2871-6C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.3178+101A>G Multiple submitters
c.3179-17C>T Multiple submitters RYR1-related disorder
c.3381+95C>T Multiple submitters
c.3382-10G>A Multiple submitters RYR1-related disorder
c.3382-10G>C Multiple submitters RYR1-related disorder
c.3382-8C>A Multiple submitters RYR1-related disorder
c.3556+17C>G Multiple submitters RYR1-related disorder
c.3556+19T>C Multiple submitters RYR1-related disorder
c.3557-5A>G Multiple submitters RYR1-related disorder
c.3765+20A>G Multiple submitters RYR1-related disorder
c.3766-34G>A Multiple submitters
c.4160+12G>A Multiple submitters RYR1-related disorder
c.4160+7C>T Multiple submitters RYR1-related disorder
c.4161-13C>T Multiple submitters RYR1-related disorder
c.4161-21C>T Multiple submitters
c.4161-68A>G Multiple submitters
c.4161-8A>G Multiple submitters RYR1-related disorder
c.424+139G>A Multiple submitters
c.424+157G>C Multiple submitters
c.424+159C>G Multiple submitters
c.425-7C>T Multiple submitters RYR1-related disorder
c.4293+9C>T Multiple submitters RYR1-related disorder
c.4294-4C>T Multiple submitters RYR1-related disorder
c.4454+14G>A Multiple submitters RYR1-related disorder
c.4455-17del Multiple submitters RYR1-related disorder
c.4455-17G>A Multiple submitters RYR1-related disorder
c.4455-18C>T Multiple submitters RYR1-related disorder
c.4455-5T>C Multiple submitters RYR1-related disorder
c.4455-7C>T Multiple submitters RYR1-related disorder
c.46-11C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.46-16C>A Multiple submitters RYR1-related disorder
c.46-20G>T Multiple submitters RYR1-related disorder
c.46-4G>T Multiple submitters RYR1-related disorder
c.46-5C>T Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.4620+20A>C Multiple submitters RYR1-related disorder
c.4620+7C>G Multiple submitters RYR1-related disorder
c.4621-43C>T Multiple submitters
c.4708-9T>C Multiple submitters RYR1-related disorder
c.4934+25G>T Multiple submitters
c.4935-11C>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.537+12C>T Multiple submitters RYR1-related disorder
c.537+13G>T Multiple submitters RYR1-related disorder
c.538-14C>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.538-7C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.538-9G>C Multiple submitters malignant hyperthermia, susceptibility to, 1
c.5547+12C>T Multiple submitters RYR1-related disorder
c.5547+85A>T Multiple submitters
c.5548-17G>A Multiple submitters RYR1-related disorder
c.5815-6C>G Multiple submitters RYR1-related disorder
c.6128-11A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.6128-143C>T Multiple submitters
c.6128-14T>C Multiple submitters RYR1-related disorder
c.6128-170A>G Multiple submitters
c.6275-16A>G Multiple submitters RYR1-related disorder
c.6275-71T>C Multiple submitters
c.632-10del Multiple submitters RYR1-related disorder
c.6548+10C>T Multiple submitters RYR1-related disorder
c.6548+7C>T Multiple submitters RYR1-related disorder
c.6663+17G>A Multiple submitters RYR1-related disorder
c.6664-4C>T Multiple submitters RYR1-related disorder
c.6664-8T>C Multiple submitters RYR1-related disorder
c.6796+12C>T Multiple submitters RYR1-related disorder
c.6796+132G>C Multiple submitters
c.6796+13G>A Multiple submitters RYR1-related disorder
c.6796+9C>T Multiple submitters RYR1-related disorder
c.6797-10G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.6797-11C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.6797-13C>G Multiple submitters RYR1-related disorder
c.6797-14T>C Multiple submitters RYR1-related disorder
c.6797-48G>A Multiple submitters
c.6797-7C>T Multiple submitters RYR1-related disorder
c.6797-9C>T Multiple submitters RYR1-related disorder
c.6892-11T>C Multiple submitters RYR1-related disorder
c.6892-14C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7027+18G>A Multiple submitters RYR1-related disorder
c.7028-11C>T Multiple submitters RYR1-related disorder
c.7028-15C>G Multiple submitters RYR1-related disorder
c.7028-17C>T Multiple submitters RYR1-related disorder
c.7028-5G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7214+17C>T Multiple submitters RYR1-related disorder
c.7215-11C>T Multiple submitters RYR1-related disorder
c.7215-14C>T Multiple submitters RYR1-related disorder
c.726-15C>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.726-5C>T Multiple submitters RYR1-related disorder
c.7324-12del Multiple submitters RYR1-related disorder
c.7324-9A>T Multiple submitters RYR1-related disorder
c.7445-13T>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7615-10T>C Multiple submitters RYR1-related disorder
c.7615-11C>T Multiple submitters RYR1-related disorder
c.7615-13C>T Multiple submitters RYR1-related disorder
c.7615-17C>T Multiple submitters RYR1-related disorder
c.7615-20G>A Multiple submitters RYR1-related disorder
c.7615-4C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7615-8C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7835+12C>A Multiple submitters RYR1-related disorder
c.7835+12C>G Multiple submitters RYR1-related disorder
c.7835+38G>A Multiple submitters
c.7835+71C>G Multiple submitters
c.7836-10T>C Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7836-12A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7836-13C>G Multiple submitters RYR1-related disorder
c.7836-13C>T Multiple submitters RYR1-related disorder
c.7836-15T>C Multiple submitters RYR1-related disorder
c.7836-19C>T Multiple submitters RYR1-related disorder
c.7836-25C>T Multiple submitters
c.7836-5C>T Multiple submitters RYR1-related disorder
c.7836-70G>C Multiple submitters
c.7836-8T>C Multiple submitters malignant hyperthermia, susceptibility to, 1

Uncertain significance 4802

Showing the top 300 by review status; the full set is in the sitemap.

c.14364+1G>T Expert panel malignant hyperthermia of anesthesia
p.Ala1577Thr Expert panel RYR1-related myopathy ⚠
p.Ala2367Thr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala3090Thr Expert panel malignant hyperthermia of anesthesia
p.Ala3631Ser Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala3709Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala4128Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Ala4856Gly Expert panel malignant hyperthermia of anesthesia ⚠
p.Ala4894Thr Expert panel malignant hyperthermia of anesthesia ⚠
p.Ala4940Thr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala612Pro Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1032His Expert panel malignant hyperthermia of anesthesia
p.Arg1043Cys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1140Cys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1301Pro Expert panel RYR1-related myopathy
p.Arg156Lys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1583Cys Expert panel malignant hyperthermia of anesthesia
p.Arg163His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg1964Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg207Cys Expert panel RYR1-related myopathy
p.Arg2126Gln Expert panel malignant hyperthermia of anesthesia
p.Arg2224His Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg2248Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg2248His Expert panel malignant hyperthermia of anesthesia
p.Arg2359Trp Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2452Gln Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2452Pro Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg2591Gly Expert panel malignant hyperthermia of anesthesia
p.Arg2591Trp Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg2593Gly Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg2593His Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg3051His Expert panel malignant hyperthermia of anesthesia
p.Arg3119His Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg3167Ter Expert panel malignant hyperthermia of anesthesia
p.Arg316Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg316Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3283Gln Expert panel malignant hyperthermia of anesthesia
p.Arg3348Cys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3348His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg367Gln Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg367Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3707Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3772Trp Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg3983Cys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg401Gly Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg401Ser Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg4041Trp Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg44His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg4558Gln Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg4645Gln Expert panel malignant hyperthermia of anesthesia
p.Arg471Cys Expert panel malignant hyperthermia of anesthesia
p.Arg4757His Expert panel malignant hyperthermia of anesthesia
p.Arg4861Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg4893Gln Expert panel malignant hyperthermia of anesthesia ⚠
p.Arg533His Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg533Ser Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Arg885His Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg975Gln Expert panel malignant hyperthermia, susceptibility to, 1
p.Arg999His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asn1678Ser Expert panel malignant hyperthermia, susceptibility to, 1
p.Asn2283His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asn3418Asp Expert panel malignant hyperthermia, susceptibility to, 1
p.Asn3908Ile Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asn4119Tyr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp1056Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp166Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp166Gly Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp17del Expert panel malignant hyperthermia of anesthesia
p.Asp227Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp2400Gly Expert panel malignant hyperthermia, susceptibility to, 1
p.Asp2730His Expert panel malignant hyperthermia of anesthesia ⚠
p.Asp3696His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp4939Asn Expert panel RYR1-related myopathy ⚠
p.Asp4939Glu Expert panel malignant hyperthermia of anesthesia ⚠
p.Asp60Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp60Tyr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Asp708Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Cys1781Arg Expert panel malignant hyperthermia of anesthesia
p.Cys2237Tyr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Cys2363Trp Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Cys2436Tyr Expert panel malignant hyperthermia of anesthesia ⚠
p.Cys4664Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Cys64Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Gln1219Pro Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gln474His Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gln4837Glu Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu1058Lys Expert panel malignant hyperthermia, susceptibility to, 1
p.Glu1223Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu160Gly Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu176Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu209Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu2344Asp Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu2348Gly Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu2362Gly Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu2371Gly Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu2404Lys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu2439Asp Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu2635Val Expert panel RYR1-related myopathy ⚠
p.Glu2669Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu2764Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu2880Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu3212Gly Expert panel malignant hyperthermia of anesthesia
p.Glu3226Gln Expert panel malignant hyperthermia of anesthesia
p.Glu3290Lys Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu331_Gly332insGlu Expert panel malignant hyperthermia of anesthesia
p.Glu3584Gln Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Glu4010Lys Expert panel malignant hyperthermia, susceptibility to, 1
p.Glu4133Gly Expert panel malignant hyperthermia of anesthesia ⚠
p.Glu4283Val Expert panel malignant hyperthermia of anesthesia
p.Glu4502Gly Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly165Arg Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly2130Arg Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly2160Ser Expert panel malignant hyperthermia, susceptibility to, 1
p.Gly2183Glu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly2733Asp Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly3806Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly3938Asp Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly40Ala Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly4178Ser Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly4178Val Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly4638Asp Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly4734Glu Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly4820Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly4820Trp Expert panel malignant hyperthermia of anesthesia ⚠
p.Gly4942Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Gly684Arg Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.His2204Gln Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.His2976Tyr Expert panel malignant hyperthermia of anesthesia ⚠
p.His382Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.His4729Pro Expert panel malignant hyperthermia of anesthesia ⚠
p.Ile2182Phe Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ile2358Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ile3253Thr Expert panel malignant hyperthermia, susceptibility to, 1
p.Ile3413Phe Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ile3916Met Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ile4039Phe Expert panel malignant hyperthermia, susceptibility to, 1
p.Ile4138Thr Expert panel malignant hyperthermia of anesthesia ⚠
p.Ile4817Phe Expert panel malignant hyperthermia of anesthesia ⚠
p.Ile4928Val Expert panel malignant hyperthermia of anesthesia ⚠
p.Ile4938Met Expert panel malignant hyperthermia of anesthesia ⚠
p.Ile4938Thr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Leu1675Pro Expert panel malignant hyperthermia of anesthesia ⚠
p.Leu4568Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Leu4650Pro Expert panel RYR1-related myopathy ⚠
p.Lys1467Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Lys2013Gln Expert panel malignant hyperthermia, susceptibility to, 1
p.Lys3367Arg Expert panel malignant hyperthermia, susceptibility to, 1
p.Met1729Arg Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Met1814Lys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Met1814Val Expert panel malignant hyperthermia of anesthesia
p.Met2101Lys Expert panel malignant hyperthermia of anesthesia
p.Met226Lys Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Met3266Thr Expert panel malignant hyperthermia of anesthesia ⚠
p.Met4022Val Expert panel malignant hyperthermia, susceptibility to, 1
p.Met4230Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Met4640Val Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Met4880Thr Expert panel malignant hyperthermia of anesthesia ⚠
p.Met4990Val Expert panel malignant hyperthermia of anesthesia
p.Phe2340Leu Expert panel malignant hyperthermia of anesthesia ⚠
p.Phe4684Ser Expert panel malignant hyperthermia of anesthesia ⚠
p.Phe4808Asn Expert panel malignant hyperthermia of anesthesia
p.Phe4808Leu Expert panel malignant hyperthermia of anesthesia ⚠
p.Phe4960Tyr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro1588Leu Expert panel malignant hyperthermia of anesthesia
p.Pro1592Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro2366Arg Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro2462Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro2496Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro2560Ala Expert panel RYR1-related myopathy ⚠
p.Pro2560Arg Expert panel RYR1-related myopathy ⚠
p.Pro3292Ser Expert panel RYR1-related myopathy
p.Pro3410Gln Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro3519Leu Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Pro4587Leu Expert panel malignant hyperthermia of anesthesia ⚠
p.Pro4668Ser Expert panel malignant hyperthermia of anesthesia ⚠
p.Ser193Thr Expert panel RYR1-related myopathy ⚠
p.Ser2542Asn Expert panel malignant hyperthermia of anesthesia
p.Ser2685Phe Expert panel malignant hyperthermia of anesthesia ⚠
p.Ser3217Pro Expert panel malignant hyperthermia of anesthesia ⚠
p.Ser71Tyr Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Ser846Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Thr1176Ile Expert panel malignant hyperthermia of anesthesia ⚠
p.Thr214Met Expert panel malignant hyperthermia of anesthesia
p.Thr2596Ile Expert panel malignant hyperthermia of anesthesia ⚠
p.Thr2885Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Thr2910Met Expert panel malignant hyperthermia of anesthesia ⚠
p.Thr3711Met Expert panel malignant hyperthermia, susceptibility to, 1
p.Thr4081Met Expert panel malignant hyperthermia, susceptibility to, 1
p.Thr4709Met Expert panel malignant hyperthermia, susceptibility to, 1
p.Thr4853Ile Expert panel malignant hyperthermia of anesthesia ⚠
p.Thr51Asn Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Thr84Met Expert panel malignant hyperthermia of anesthesia ⚠
p.Trp3284Arg Expert panel malignant hyperthermia of anesthesia ⚠
p.Trp3985Arg Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Trp5020Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Trp5020Ser Expert panel malignant hyperthermia of anesthesia ⚠
p.Tyr1711Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Tyr178Ser Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Tyr2510His Expert panel malignant hyperthermia of anesthesia ⚠
p.Tyr2587Cys Expert panel malignant hyperthermia of anesthesia ⚠
p.Tyr4733Asp Expert panel malignant hyperthermia of anesthesia ⚠
p.Val2102Leu Expert panel malignant hyperthermia, susceptibility to, 1
p.Val218Ile Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Val2212Asp Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Val2214Ile Expert panel malignant hyperthermia, susceptibility to, 1
p.Val2346Met Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Val2627Met Expert panel malignant hyperthermia of anesthesia ⚠
p.Val3218Met Expert panel malignant hyperthermia of anesthesia
p.Val3324Ala Expert panel malignant hyperthermia of anesthesia
p.Val3840Ile Expert panel malignant hyperthermia, susceptibility to, 1 ⚠
p.Val4725Leu Expert panel RYR1-related myopathy ⚠
p.Val4842Met Expert panel malignant hyperthermia of anesthesia ⚠
c.10019-2dup Multiple submitters RYR1-related disorder
c.10259+6C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.10440+3C>T Multiple submitters RYR1-related disorder
c.10686+3A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.11193+3G>A Multiple submitters central core myopathy
c.11778+3G>C Multiple submitters congenital multicore myopathy with external ophthalmoplegia
c.12013-11G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12282+3G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.1244+6del Multiple submitters malignant hyperthermia, susceptibility to, 1
c.12624+2dup Multiple submitters malignant hyperthermia, susceptibility to, 1
c.13437+14C>T Multiple submitters RYR1-related disorder
c.13746+4C>G Multiple submitters congenital fiber-type disproportion myopathy
c.13998+3G>A Multiple submitters central core myopathy
c.14365-13T>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.1440+6G>A Multiple submitters RYR1-related disorder
c.14511+3G>A Multiple submitters RYR1-related disorder
c.14803+4A>C Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14868+5del Multiple submitters malignant hyperthermia, susceptibility to, 1
c.14868+6T>A Multiple submitters RYR1-related disorder
c.14970-5C>G Multiple submitters RYR1-related disorder
c.15021+2T>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.1576+4G>A Multiple submitters RYR1-related disorder
c.165+5G>A Multiple submitters RYR1-related disorder
c.1791+4G>A Multiple submitters RYR1-related disorder
c.2682+5G>A Multiple submitters RYR1-related disorder
c.270+3G>A Multiple submitters RYR1-related disorder
c.2787-15C>G Multiple submitters RYR1-related disorder
c.2870+3G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.3179-9C>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.3381+6T>C Multiple submitters RYR1-related disorder
c.3765+3A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.424+4C>A Multiple submitters central core myopathy
c.4293+6G>A Multiple submitters RYR1-related disorder
c.4454+6G>A Multiple submitters RYR1-related disorder
c.46-10G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.4707+4C>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.4707+4C>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.5815-16G>A Multiple submitters RYR1-related disorder
c.6274+6G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.6548+3G>T Multiple submitters RYR1-related disorder
c.6548+6A>G Multiple submitters RYR1-related disorder
c.6663+6G>A Multiple submitters RYR1-related disorder
c.6891+3G>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.6891+5G>A Multiple submitters RYR1-related disorder
c.7028-10G>A Multiple submitters RYR1-related disorder
c.7444+4C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7444+5A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7835+12C>T Multiple submitters RYR1-related disorder
c.7835+4_7835+5delinsAG Multiple submitters RYR1-related disorder
c.7835+4G>A Multiple submitters malignant hyperthermia, susceptibility to, 1
c.7836-3C>T Multiple submitters RYR1-related disorder
c.7836-5C>A Multiple submitters RYR1-related disorder
c.7926+3G>C Multiple submitters RYR1-related disorder
c.800+4G>A Multiple submitters RYR1-related disorder
c.8068-11G>A Multiple submitters RYR1-related disorder
c.8816+4C>T Multiple submitters RYR1-related disorder
c.8816+6C>T Multiple submitters malignant hyperthermia, susceptibility to, 1
c.8932+3A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.9233+3A>G Multiple submitters malignant hyperthermia, susceptibility to, 1
c.9233+6del Multiple submitters malignant hyperthermia, susceptibility to, 1
c.9473-3C>T Multiple submitters RYR1-related disorder
c.957+5_957+29del Multiple submitters RYR1-related disorder
c.-69T>G Multiple submitters central core myopathy
c.-74A>C Multiple submitters central core myopathy
p.171VS[1] Multiple submitters RYR1-related disorder
p.4260DE[1] Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.4260DE[3] Multiple submitters congenital multicore myopathy with external ophthalmoplegia
p.4264GA[3] Multiple submitters RYR1-related disorder
p.4318RRL[3] Multiple submitters RYR1-related disorder
p.4343AGA[3] Multiple submitters malignant hyperthermia, susceptibility to, 1
p.4489PE[6] Multiple submitters congenital fiber-type disproportion myopathy
p.Ala1008Thr Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ala1014Val Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ala1041Val Multiple submitters malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala1104Val Multiple submitters King-Denborough syndrome
p.Ala1116Pro Multiple submitters RYR1-related disorder
p.Ala1226Asp Multiple submitters malignant hyperthermia, susceptibility to, 1 ⚠
p.Ala1318Thr Multiple submitters Inborn genetic diseases
p.Ala1322Ser Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ala1322Val Multiple submitters RYR1-related disorder ⚠
p.Ala1324Val Multiple submitters RYR1-related disorder
p.Ala1338Val Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ala1356Pro Multiple submitters malignant hyperthermia, susceptibility to, 1
p.Ala1356Thr Multiple submitters congenital fiber-type disproportion myopathy ⚠
p.Ala1363Gly Multiple submitters RYR1-related disorder ⚠
p.Ala1370Thr Multiple submitters RYR1-related disorder ⚠
p.Ala1396Thr Multiple submitters RYR1-related disorder
p.Ala1440Ser Multiple submitters malignant hyperthermia, susceptibility to, 1