Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
RAB7 member RAS oncogene family

 | 3q21 | * Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.37)
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RAPSN rapsyn

 | 11p11.2-p11.1 | * Myasthenic syndrome, congenital - CMS1D (11.11)
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RBM20 RNA binding motif protein 20

 | 10q25.3 | * Cardiomyopathy, dilated, 1DD - CMD1DD (10.59)
|
REEP1 receptor accessory protein 1

 | 2p11.2 | * Spastic paraplegia 31 - SPG31 (15.12)
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RRM2B ribonucleotide reductase M2 B (TP53 inducible)

 | 8q23.1 | * Mitochondrial dna depletion syndrome 8A - MTDP8B (16.20, 16.23)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)
|
RYR1 ryanodine receptor 1 (skeletal)

 | 19q13.1 | * myopathy, congenital, with fiber-type disproportion - CFTD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Central core disease - CCD (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* Malignant hyperthermia susceptibility 1 - MHS1 (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* centronuclear myopathy, recessive - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
* minicore myopathy with external ophthalmoplegia - (3.12, 3.17, 3.18, 3.19, 3.20, 3.30, 8.1)
|
RYR2 ryanodine receptor 2

 | 1q42.1-q43 | * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.73, 10.84)
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.73, 10.84)
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.73, 10.84)
* Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.73, 10.84)
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