DYSF Chromosome 2
Dysferlin
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What This Gene Does
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
Ferlin family
Locus Type
gene with protein product
Location
2p13.2
Ensembl
ENSG00000135636
Associated Conditions (32)
Miyoshi muscular dystrophy 1
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF-related disorder
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Cervical cancer
Clear cell carcinoma of kidney
Muscular dystrophy
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Abnormality of the musculature
Familial cancer of breast
Familial pancreatic carcinoma
Nonpapillary renal cell carcinoma
Gastric cancer
Thyroid cancer
+12 more conditions
Key Variants
RS1024524968
Conflicting classifications of pathogenicity
Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
Health Risk
RS1049651735
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Health Risk
RS111488441
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Health Risk
RS112007817
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, DYSF-related disorder
Health Risk
RS112034381
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Health Risk
RS114986640
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Health Risk
RS115407852
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
Health Risk
RS115849497
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Health Risk
RS116204385
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Health Risk
RS116426399
Conflicting classifications of pathogenicity
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder, Inborn genetic diseases
Health Risk
RS116733194
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
Health Risk
RS11903223
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
Health Risk
All Variants (1127)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794727119 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy |
| RS794727343 | Health Risk | Pathogenic | — |
| RS794727534 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS794727636 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS863225019 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS863225020 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS863225021 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS866823474 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS886039573 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS886042091 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS886042095 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS886042110 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS886042318 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886042389 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS886042504 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS886042578 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS886042581 | Health Risk | Pathogenic | — |
| RS886042632 | Health Risk | Pathogenic | — |
| RS886042635 | Health Risk | Pathogenic | Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS886042641 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886042680 | Health Risk | Pathogenic | — |
| RS886042827 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS886042878 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS886042879 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886042951 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS886042970 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886043145 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1 |
| RS886043328 | Health Risk | Pathogenic | — |
| RS886043342 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886043489 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886043900 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS886043964 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy |
| RS886043966 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy |
| RS886044131 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy |
| RS886044258 | Health Risk | Pathogenic | — |
| RS886044355 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS886044381 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy, Miyoshi muscular dystrophy 1 |
| RS886044386 | Health Risk | Pathogenic | — |
| RS886044390 | Health Risk | Pathogenic | — |
| RS886044410 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy |
| RS886044411 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS886044537 | Health Risk | Pathogenic | Acute myeloid leukemia, Acute myeloid leukemia |
| RS892133012 | Health Risk | Pathogenic | Miyoshi muscular dystrophy 1, DYSF-related disorder, Miyoshi muscular dystrophy 1 |
| RS971134497 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS1057521141 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1 |
| RS1064794020 | Health Risk | Pathogenic/Likely pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS1179051248 | Health Risk | Pathogenic/Likely pathogenic | Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS1231906656 | Health Risk | Pathogenic/Likely pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS1238293747 | Health Risk | Pathogenic/Likely pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS1252415299 | Health Risk | Pathogenic/Likely pathogenic | Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |