Muscular dystrophy: genes and variants
Explore variant evidence for Muscular dystrophy across 6 analyzed proteins (LMNA, FKRP, SELENON, LAMA2, COL6A2 and 1 more). Linked ClinVar records include 10 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 2 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-01. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Muscular dystrophy
LMNA: Prelamin-A/C
The gene product produces lamins A and C, structural proteins that form the nuclear lamina beneath the inner nuclear membrane. Lamins help maintain nuclear shape and organize chromatin, and LMNA variants are associated with muscular dystrophy, cardiomyopathy, lipodystrophy, and premature-aging syndromes.
8 ClinVar pathogenic / likely pathogenic and 2 uncertain variants in LMNA have source records linked to Muscular dystrophy. Association strength is not clinical gene validity.
FKRP: Ribitol 5-phosphate transferase FKRP
It is required for proper glycosylation of alpha-dystroglycan, enabling muscle fibers and other cells to attach effectively to extracellular matrix. Biallelic pathogenic variants cause dystroglycanopathies ranging from limb-girdle muscular dystrophy to severe congenital muscular dystrophy with brain or eye involvement.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in FKRP have source records linked to Muscular dystrophy. Association strength is not clinical gene validity.
SELENON: Selenoprotein N
It helps maintain redox and calcium homeostasis within the endoplasmic reticulum of skeletal muscle, particularly during oxidative and mechanical stress. Biallelic loss-of-function variants cause SELENON-related myopathy, often with axial weakness, rigid spine, and disproportionate respiratory impairment.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in SELENON have source records linked to Muscular dystrophy. Association strength is not clinical gene validity.
LAMA2: Laminin subunit alpha-2
It links cells to surrounding extracellular matrix through dystroglycan and integrins. Biallelic loss-of-function variants cause LAMA2-related muscular dystrophy, ranging from severe congenital disease to later-onset limb-girdle weakness.
0 ClinVar pathogenic / likely pathogenic and 3 uncertain variants in LAMA2 have source records linked to Muscular dystrophy. Association strength is not clinical gene validity.
COL6A2: Collagen alpha-2(VI) chain
It assembles with other collagen VI chains into extracellular microfibrils that support muscle and connective-tissue integrity. Dominant or recessive pathogenic variants cause collagen VI-related muscular dystrophy and myopathy across a broad severity spectrum.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in COL6A2 have source records linked to Muscular dystrophy. Association strength is not clinical gene validity.
DMD: Dystrophin
Its dystrophin product mechanically links the actin cytoskeleton of muscle fibers to the extracellular matrix and stabilizes the sarcolemma during contraction. Severe loss causes Duchenne muscular dystrophy, while variants preserving partial function more often cause Becker muscular dystrophy.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in DMD have source records linked to Muscular dystrophy. Association strength is not clinical gene validity.
Where Muscular dystrophy variants cluster
- LMNA LTD (positions 428–545): 3 of 8 ClinVar pathogenic / likely pathogenic variants, 2.1× more than its size predicts.
- LMNA Coil 2 (positions 243–383): 3 of 8 ClinVar pathogenic / likely pathogenic variants, 1.8× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Muscular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SELENON R466Q | 466 | Pathogenic / likely pathogenic (★★★★) | |
| FKRP N463D | 463 | Lumenal | Pathogenic / likely pathogenic (★★) |
| LMNA L35P | 35 | IF rod | Pathogenic / likely pathogenic (★★) |
| LMNA E361K | 361 | IF rod | Pathogenic / likely pathogenic (★★) |
| LMNA R453W | 453 | LTD | Pathogenic / likely pathogenic (★★) |
| LMNA A278P | 278 | IF rod | Pathogenic / likely pathogenic (★★) |
| LMNA E358K | 358 | IF rod | Pathogenic / likely pathogenic (★★) |
| LMNA L530F | 530 | LTD | Pathogenic / likely pathogenic (★★) |
| LMNA R388P | 388 | Tail | Pathogenic / likely pathogenic (★) |
| LMNA W520C | 520 | LTD | Pathogenic / likely pathogenic (★) |
Which prediction tools work for Muscular dystrophy
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 96 out of 100
- PolyPhen-2: 76 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 67 out of 100
Same protein, different disease
- Charcot-Marie-Tooth disease also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Muscular dystrophy variants (130 pathogenic / likely pathogenic).
- Dilated cardiomyopathy also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Muscular dystrophy variants (21 pathogenic / likely pathogenic).
- Familial partial lipodystrophy, Dunnigan type also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Muscular dystrophy variants (13 pathogenic / likely pathogenic).
- Emery-Dreifuss muscular dystrophy also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Muscular dystrophy variants (12 pathogenic / likely pathogenic).
- Congenital muscular dystrophy due to LMNA mutation also has ClinVar records linked to LMNA variants; they fall mostly in different places as the Muscular dystrophy variants (11 pathogenic / likely pathogenic).
- Eichsfeld type congenital muscular dystrophy also has ClinVar records linked to SELENON variants; they fall mostly in different places as the Muscular dystrophy variants (7 pathogenic / likely pathogenic).
- Walker-Warburg congenital muscular dystrophy also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy variants (44 pathogenic / likely pathogenic).
- Autosomal recessive limb-girdle muscular dystrophy also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy variants (20 pathogenic / likely pathogenic).
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy variants (13 pathogenic / likely pathogenic).
- Muscular dystrophy-dystroglycanopathy type B5 also has ClinVar records linked to FKRP variants; they fall mostly in different places as the Muscular dystrophy variants (6 pathogenic / likely pathogenic).
Diseases related to Muscular dystrophy
- Dilated cardiomyopathy, also linked to DMD and LMNA
- Bethlem myopathy, also linked to COL6A2 and LMNA
- Congenital muscular dystrophy due to LMNA mutation, also linked to LAMA2 and LMNA
- Myopathy, also linked to COL6A2 and SELENON
- Charcot-Marie-Tooth disease, also linked to LMNA
- Autosomal recessive limb-girdle muscular dystrophy, also linked to FKRP
- Primary dilated cardiomyopathy, also linked to LMNA
- Walker-Warburg congenital muscular dystrophy, also linked to FKRP
- Arrhythmogenic right ventricular dysplasia, also linked to LMNA
- Ullrich congenital muscular dystrophy, also linked to COL6A2
- Familial partial lipodystrophy, Dunnigan type, also linked to LMNA
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, also linked to FKRP
Frequently asked questions
Which genes have records linked to Muscular dystrophy?
This view contains 6 analyzed proteins: LMNA, FKRP, SELENON, LAMA2, COL6A2 and 1 more. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 10 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 2 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 38 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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