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Recognized gene
CAPN3
Normalized c.HGVS
c.-131G>T, c.100G>C, c.1082G>A, c.10G>A, c.1157G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala133Val), p.(Ala160Pro), p.(Ala160Thr), p.(Ala34Pro) and 43 more
Matching records
163
PM3-positive records
23
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 |
|---|---|---|---|---|---|---|
| CAPN3 |
NM_000070.3:c.2107C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40361203
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Human genomics, 2025
|
Main article | |
| CAPN3 |
NM_000070.3:c.526G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2458T > C; Tyr820His; p.Tyr820His
context: Compound heterozygous candidate
|
38391941
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Cells, 2024
|
Main article | |
| CAPN3 |
NM_000070.3:c.259C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36374152
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Molecular genetics & genomic medicine, 2023
|
Main article | |
| CAPN3 |
NM_000070.3:c.1292T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.598_612del
context: Compound heterozygous candidate
|
36385624
Quantitative muscle MRI captures early muscle degeneration in calpainopathy.
Scientific reports, 2022
|
Main article | |
| CAPN3 |
NM_000070.3:c.2462C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with None identified
context: Compound heterozygous candidate
|
35135626
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Acta neuropathologica communications, 2022
|
Supplementary material | |
| CAPN3 |
NM_000070.3:c.259C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34816580
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
American journal of medical genetics. Part A, 2022
|
Main article | |
| CAPN3 |
NM_000070.3:c.584A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.643_663del21
context: Compound heterozygous candidate
|
30564623
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Annals of clinical and translational neurology, 2018
|
Main article | |
| CAPN3 |
NM_000070.3:c.584A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.643_663del21
context: Compound heterozygous candidate
|
30564623
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Annals of clinical and translational neurology, 2018
|
Main article | |
| CAPN3 |
NM_000070.3:c.632+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1566G>A; p.K522=
context: Compound heterozygous candidate
|
30564623
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Annals of clinical and translational neurology, 2018
|
Supplementary material | |
| CAPN3 |
NM_000070.3:c.835T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.633G>C; p.K211N
context: Compound heterozygous candidate
|
30564623
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Annals of clinical and translational neurology, 2018
|
Supplementary material | |
| CAPN3 |
NM_000070.3:c.1678A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.550delA
context: Compound heterozygous candidate
|
29970176
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human genomics, 2018
|
Main article | |
| CAPN3 |
NM_000070.3:c.305C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.S606L
context: Compound heterozygous candidate
|
29970176
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human genomics, 2018
|
Main article | |
| CAPN3 |
NM_000070.3:c.998G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2176G > T; p.Ala726Ser
context: Compound heterozygous candidate
|
29149851
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Orphanet journal of rare diseases, 2017
|
Main article | |
| CAPN3 |
NM_000070.3:c.945+5G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1746-20C>G
context: Compound heterozygous candidate
|
27708273
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Journal of human genetics, 2017
|
Main article | |
| CAPN3 |
NM_000070.3:c.2329A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27671536
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Human genomics, 2016
|
Main article | |
| CAPN3 |
NM_000070.3:c.1715G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
27066545
Respiratory chain deficiency in nonmitochondrial disease.
Neurology. Genetics, 2015
|
Main article | |
| CAPN3 |
NM_000070.3:c.1585G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1469G>A; p.Arg490Gln
context: Compound heterozygous candidate
|
26404900
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
BMC neurology, 2015
|
Supplementary material | |
| CAPN3 |
NM_000070.3:c.620A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1746-20C>G; Spl?
context: Compound heterozygous candidate
|
26404900
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
BMC neurology, 2015
|
Supplementary material | |
| CAPN3 |
NM_000070.3:c.163G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26112015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Genome biology, 2015
|
Supplementary material | |
| CAPN3 |
NM_000070.3:c.2390A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1322delG; p.(Gly441Valfs*22)
context: Compound heterozygous candidate
|
25135358
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
BMC neurology, 2014
|
Supplementary material | |