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Recognized gene
DYSF
Normalized c.HGVS
c.1033C>T, c.106A>T, c.1160A>G, c.1204C>T, c.1256G>C and 44 more
Normalized p.HGVS
p.(Ala429Val), p.(Ala614Val), p.(Ala736Thr), p.(Ala85Asp), p.(Ala864Thr) and 43 more
Matching records
301
PM3-positive records
20
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 |
|---|---|---|---|---|---|---|
| DYSF |
NM_001130987.2:c.3851C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.5979dup; p.Glu1994ArgX3; frame shift
context: Confirmed in trans
|
35725460
Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.
BMC medical genomics, 2022
|
Main article | |
| DYSF |
NM_001130987.2:c.3851C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5979dup in exon 53; p.Glu1994ArgX3 fs
context: Compound heterozygous candidate
|
40545540
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.
Orphanet journal of rare diseases, 2025
|
Main article | |
| DYSF |
NM_001130987.2:c.6175C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2517del; p.Met840Trpfs*108
context: Compound heterozygous candidate
|
40545540
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.
Orphanet journal of rare diseases, 2025
|
Main article | |
| DYSF |
NM_001130987.2:c.950C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6008G > A; p.Gly2003Asp
context: Compound heterozygous candidate
|
40545540
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.
Orphanet journal of rare diseases, 2025
|
Main article | |
| DYSF |
NM_001130987.2:c.962C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2163-2A > G
context: Compound heterozygous candidate
|
40545540
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.
Orphanet journal of rare diseases, 2025
|
Main article | |
| DYSF |
NM_001130987.2:c.1256G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39548682
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
Molecular genetics & genomic medicine, 2024
|
Main article | |
| DYSF |
NM_001130987.2:c.2864C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39207128
[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients].
Revista de neurologia, 2024
|
Main article | |
| DYSF |
NM_001130987.2:c.4279C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2875 C>T; Arg 959Trp
context: Compound heterozygous candidate
|
37188302
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Frontiers in neurology, 2023
|
Main article | |
| DYSF |
NM_001130987.2:c.2983G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.3022G>A; p.Asp1008Asn
context: Compound heterozygous candidate
|
36983702
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Journal of personalized medicine, 2023
|
Supplementary material | |
| DYSF |
NM_003494.4:c.17T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4794G>T; p.Ile6Asn; p.Lys1598Asn
context: Compound heterozygous candidate
|
36983702
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Journal of personalized medicine, 2023
|
Supplementary material | |
| DYSF |
NM_001130987.2:c.4111TCC[1]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Homozygous for query variant
context: Homozygous evidence
|
33250842
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Frontiers in neurology, 2020
|
Main article | |
| DYSF |
NM_001130987.2:c.5591T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31693312
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Molecular genetics & genomic medicine, 2019
|
Main article | |
| DYSF |
NM_001130987.2:c.4111TCC[1]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
30827497
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
American journal of human genetics, 2019
|
Main article | |
| DYSF |
NM_001130987.2:c.6063G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.V374L
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 | |
| DYSF |
NM_001130987.2:c.6019T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5509G>A; p.Asp1837Asn
context: Compound heterozygous candidate
|
29507617
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy.
Theranostics, 2018
|
Main article | |
| DYSF |
NM_001130987.2:c.3184C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.799_800delTT; p.F267LfsX5
context: Compound heterozygous candidate
|
27647186
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Chinese medical journal, 2016
|
Main article | |
| DYSF |
NM_001130987.2:c.5920C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
27647186
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Chinese medical journal, 2016
|
Main article | |
| DYSF |
NM_001130987.2:c.6176G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.265C>T; p.R89X
context: Compound heterozygous candidate
|
27647186
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
Chinese medical journal, 2016
|
Main article | |
| DYSF |
NM_001130987.2:c.280G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
25214167
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Acta neuropathologica communications, 2014
|
Main article | |
| DYSF |
NM_001130987.2:c.3778C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G463A; p.G155R
context: Compound heterozygous candidate
|
25214167
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Acta neuropathologica communications, 2014
|
Main article | |