Nemaline myopathy: genes and variants
Nemaline myopathy is linked to 2 analyzed proteins (NEB and FLNC). 3 DNA variants are known to cause it; 911 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: nemaline myopathy 2
Genes linked to Nemaline myopathy
NEB: Nebulin
It spans much of the skeletal-muscle thin filament and acts as a molecular scaffold that helps specify filament length and optimize actin-myosin interaction. Biallelic pathogenic variants are a major cause of nemaline myopathy and related congenital myopathies.
2 disease-causing and 911 uncertain variants in NEB are linked to Nemaline myopathy.
FLNC: Filamin-C
It crosslinks actin and anchors signaling and structural proteins at Z-discs, costameres, and other mechanically stressed sites in striated muscle. Pathogenic variants can cause arrhythmogenic or dilated cardiomyopathy as well as myofibrillar and distal myopathies.
1 disease-causing and 0 uncertain variants in FLNC are linked to Nemaline myopathy.
Known disease-causing variants in Nemaline myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NEB Y1680C | 1680 | Nebulin 43 | Disease-causing (★★) |
| FLNC C203Y | 203 | Calponin-homology (CH) 2 | Disease-causing (★) |
| NEB D3990A | 3990 | Nebulin 110 | Disease-causing |
Same protein, different disease
- Hypertrophic cardiomyopathy is also caused by FLNC variants; they fall mostly in different places as the Nemaline myopathy variants (10 disease-causing).
- Distal myopathy with posterior leg and anterior hand involvement is also caused by FLNC variants; they fall mostly in different places as the Nemaline myopathy variants (9 disease-causing).
- Myofibrillar myopathy is also caused by FLNC variants; they fall mostly in different places as the Nemaline myopathy variants (7 disease-causing).
- Restrictive cardiomyopathy is also caused by FLNC variants; they fall mostly in different places as the Nemaline myopathy variants (3 disease-causing).
Diseases related to Nemaline myopathy
- Hypertrophic cardiomyopathy, also linked to FLNC
- Dilated cardiomyopathy, also linked to FLNC
- Myofibrillar myopathy, also linked to FLNC
- Distal myopathy with posterior leg and anterior hand involvement, also linked to FLNC
- Restrictive cardiomyopathy, also linked to FLNC
- Myopathy, also linked to FLNC
- Arthrogryposis multiplex congenita, also linked to NEB
Frequently asked questions
Which genes are linked to Nemaline myopathy?
In CATVariant, Nemaline myopathy is linked to 2 analyzed proteins: NEB (Nebulin) and FLNC (Filamin-C).
How many genetic variants are linked to Nemaline myopathy?
1,349 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 911 are of uncertain significance or have conflicting reports.
Which uncertain variants in Nemaline myopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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