Search GLEAM-DB / CoGenEx-PM3
Advanced search and filters
Input query
Recognized gene
RYR1
Normalized c.HGVS
c.10043G>A, c.11314C>T, c.11416G>A, c.11953T>C, c.1201C>A and 43 more
Normalized p.HGVS
p.(Ala1363Gly), p.(Ala1577Thr), p.(Ala2367Thr), p.(Ala303Thr), p.(Ala537Thr) and 43 more
Matching records
1598
PM3-positive records
160
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| RYR1 |
NM_000540.3:c.3619G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6856C>G; p.Leu2286Val
context: Confirmed in trans
|
39742415
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
European journal of neurology, 2025
|
Main article | |
| RYR1 |
NM_000540.3:c.12572G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2682G > C; p.Ile860_Pro894del
context: Confirmed in trans
|
36131268
Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.
BMC medical genomics, 2022
|
Main article | |
| RYR1 |
NM_000540.3:c.5309C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.7042G > A; p. Glu2348Lys
context: Confirmed in trans
|
32341817
Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.
Journal of pediatric genetics, 2020
|
Main article | |
| RYR1 |
NM_000540.3:c.7585G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with p.L2155P; p.R682P
context: Confirmed in trans
|
31856875
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Italian journal of pediatrics, 2019
|
Main article | |
| RYR1 |
NM_000540.3:c.178G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.10817T>C; p.L3606P
context: Confirmed in trans
|
29629541
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
Journal of clinical neurology (Seoul, Korea), 2018
|
Main article | |
| RYR1 |
NM_000540.3:c.4520G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Gly2446Ser
context: Confirmed in trans
|
29298851
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology, 2018
|
Main article | |
| RYR1 |
NM_000540.3:c.7336G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Arg1507Gln
context: Confirmed in trans
|
29298851
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology, 2018
|
Main article | |
| RYR1 |
NM_000540.3:c.7336G>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Arg1507Gln
context: Confirmed in trans
|
29298851
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology, 2018
|
Main article | |
| RYR1 |
NM_000540.3:c.1453A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.325C>T; c.7308_7309delTG; p.Arg109Trp
context: Confirmed in trans
|
27858727
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
Journal of neuromuscular diseases, 2015
|
Main article | |
| RYR1 |
NM_000540.3:c.14693T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.14256 A > C; p.4752 T > T
context: Confirmed in trans
|
25084811
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.
BMC research notes, 2014
|
Main article | |
| RYR1 |
NM_000540.3:c.11314C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2966A>G; c.848A>G; E989G; +1 more
context: Confirmed in trans
|
24091937
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
JAMA ophthalmology, 2013
|
Main article | |
| RYR1 |
NM_000540.3:c.2966A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.11314C>T; R3772W
context: Confirmed in trans
|
24091937
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
JAMA ophthalmology, 2013
|
Main article | |
| RYR1 |
NM_000540.3:c.14818G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.5309C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.7042G>A; Glu2348Lys
context: Compound heterozygous candidate
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.6302T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11969G>T; c.9152G>A; Arg3051His; +1 more
context: Compound heterozygous candidate
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.9152G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6302T>A; Met2101Lys
context: Compound heterozygous candidate
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.14126C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 16 bp frameshift deletion
context: Compound heterozygous candidate
|
41459639
Tamoxifen treatment fails to improve muscle dysfunction in a model of recessive RYR1-linked centronuclear myopathy.
Disease models & mechanisms, 2025
|
Main article | |
| RYR1 |
NM_000540.3:c.2654G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40336053
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Orphanet journal of rare diseases, 2025
|
Main article | |
| RYR1 |
NM_000540.3:c.14387A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40159620
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.
European journal of neurology, 2025
|
Main article | |
| RYR1 |
NM_000540.3:c.6721C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.8068-3C>G; splicing defect
context: Compound heterozygous candidate
|
39999070
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.
PloS one, 2025
|
Main article | |