Gene entry
NEB
nebulin
- Chromosome
- 2
- Cytoband
- 2q23.3
- Variants (rsID)
- 183
NEB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q23.3). Its official name is “nebulin”. The reference table lists 183 variants (rsID) for this gene.
Clinically classified variants
144 reference-table entries with clinical significance.
- rs1061305Benignsingle nucleotide variantNemaline myopathy 2|Arthrogryposis multiplex congenita 6
- rs112958786Benignsingle nucleotide variantNemaline myopathy 2
- rs113403461Benignsingle nucleotide variantNemaline myopathy 2
- rs114076205Benignsingle nucleotide variantNemaline myopathy 2
- rs114853127Benignsingle nucleotide variantNemaline myopathy 2
- rs115350357Benignsingle nucleotide variantNemaline myopathy 2
- rs115631125Benignsingle nucleotide variantNemaline myopathy 2
- rs116903097Benignsingle nucleotide variantNemaline myopathy 2
- rs117048449Benignsingle nucleotide variantNemaline myopathy 2
- rs117271684Benignsingle nucleotide variantNemaline myopathy 2
- rs13031275Benignsingle nucleotide variantNemaline myopathy 2
- rs138217960Benignsingle nucleotide variantNemaline myopathy 2
- rs139636644Benignsingle nucleotide variantNemaline myopathy 2
- rs140688592Benignsingle nucleotide variantNemaline myopathy 2
- rs141930814Benignsingle nucleotide variantNemaline myopathy 2
- rs142074817Benignsingle nucleotide variantNemaline myopathy 2
- rs143123053Benignsingle nucleotide variantNemaline myopathy 2
- rs145770770Benignsingle nucleotide variantNemaline myopathy 2
- rs146310692Benignsingle nucleotide variantNemaline myopathy 2
- rs146460133Benignsingle nucleotide variantNemaline myopathy 2
- rs147305883Benignsingle nucleotide variantNemaline myopathy 2
- rs148095660Benignsingle nucleotide variantNemaline myopathy 2
- rs149162847Benignsingle nucleotide variantNemaline myopathy 2
- rs16830170Benignsingle nucleotide variantNemaline myopathy 2
- rs16830236Benignsingle nucleotide variantNemaline myopathy 2
- rs187343008Benignsingle nucleotide variantNemaline myopathy 2
- rs189912759Benignsingle nucleotide variantNemaline myopathy 2
- rs191610670Benignsingle nucleotide variantNemaline myopathy 2
- rs199791504Benignsingle nucleotide variantNemaline myopathy 2
- rs200945025Benignsingle nucleotide variantNemaline myopathy 2
- rs2288200Benignsingle nucleotide variantNemaline myopathy 2
- rs34368668Benignsingle nucleotide variantNemaline myopathy 2
- rs34555492Benignsingle nucleotide variantNemaline myopathy 2|Arthrogryposis multiplex congenita 6
- rs35227368Benignsingle nucleotide variantNemaline myopathy 2
- rs35292878Benignsingle nucleotide variantNemaline myopathy 2
- rs35625617Benignsingle nucleotide variantNemaline myopathy 2
- rs35740585Benignsingle nucleotide variantNemaline myopathy 2
- rs35974308Benignsingle nucleotide variantNemaline myopathy 2
- rs36105240Benignsingle nucleotide variantNemaline myopathy 2
- rs41270201Benignsingle nucleotide variantNemaline myopathy 2
- rs563896790Benignsingle nucleotide variantNemaline myopathy 2
- rs62167164Benignsingle nucleotide variantNemaline myopathy 2
- rs6711382Benignsingle nucleotide variantNemaline myopathy 2|Arthrogryposis multiplex congenita 6
- rs6717213Benignsingle nucleotide variantNemaline myopathy 2
- rs73967567Benignsingle nucleotide variantNemaline myopathy 2
- rs7426114Benignsingle nucleotide variantNemaline myopathy 2|Arthrogryposis multiplex congenita 6
- rs74859201Benignsingle nucleotide variantNemaline myopathy 2
- rs75807392Benignsingle nucleotide variantNemaline myopathy 2|Arthrogryposis multiplex congenita 6
- rs76767949Benignsingle nucleotide variantNemaline myopathy 2
- rs77151072Benignsingle nucleotide variantNemaline myopathy 2
- rs78733601Benignsingle nucleotide variantNemaline myopathy 2
- rs113174390Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Nemaline myopathy 2
- rs114089598Conflicting interpretationssingle nucleotide variantNemaline Myopathy, Recessive|Nemaline myopathy 2
- rs115986826Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs117178114Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs117861109Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs139333406Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs139798654Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs141155976Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs144180493Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs146616621Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs148455519Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs149881695Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs182847302Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs182866658Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs184319249Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs184516994Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs184723737Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs185574478Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs189553632Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs189623595Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs190336010Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs193224180Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs199695976Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs199847072Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs199969138Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs200307392Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs200545007Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs200719359Conflicting interpretationssingle nucleotide variantNemaline myopathy 2|Arthrogryposis multiplex congenita 6
- rs200963111Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201028196Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201141958Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201189784Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201250579Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201400523Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201553266Conflicting interpretationssingle nucleotide variantNemaline myopathy 2|Inborn genetic diseases|Nemaline myopathy|Arthrogryposis multiplex congenita 6
- rs201707021Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201767727Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201825451Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs201979610Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs202124287Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs202137113Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs202139330Conflicting interpretationssingle nucleotide variantMuscular dystrophy|Progressive proximal muscle weakness|Limb pain|Nemaline myopathy 2
- rs34504204Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs34532796Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs34718443Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs35654397Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs35686968Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs367626762Conflicting interpretationssingle nucleotide variantPeripheral neuropathy|Nemaline myopathy 2|Actin accumulation myopathy
- rs372808358Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs373946448Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs375256600Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs547109690Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs551520922Conflicting interpretationsDuplicationNemaline myopathy 2
- rs555516831Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs565184120Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs574746662Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs75515097Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs75639119Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs77826191Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs77994592Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs78592085Conflicting interpretationssingle nucleotide variantCongenital muscular dystrophy|Muscle weakness|Nemaline myopathy 2
- rs886038438Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs886038452Conflicting interpretationssingle nucleotide variantNemaline myopathy 2
- rs192117840Likely benignsingle nucleotide variantNemaline myopathy 2
- rs35555631Likely benignsingle nucleotide variantNemaline myopathy 2
- rs76261031Likely benignsingle nucleotide variant
- rs78226234Likely benignsingle nucleotide variant
- rs398124172PathogenicDeletionNemaline myopathy 2|Nemaline myopathy
- rs549794342Pathogenicsingle nucleotide variantMuscular dystrophy|Progressive proximal muscle weakness|Limb pain|Nemaline myopathy 2
- rs773952935Pathogenicsingle nucleotide variantNemaline myopathy 2|Nemaline myopathy
- rs878854368PathogenicDeletionNemaline myopathy 2
- rs111517514Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs111841612Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs139125293Uncertain significancesingle nucleotide variantInborn genetic diseases|Nemaline myopathy 2
- rs147168910Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs149430473Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs149471462Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs150874422Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs183667452Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs185496567Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs186686151Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs189541265Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs189609282Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs191722579Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs199694315Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs199903114Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs199934793Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs200555425Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs200559481Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs201337732Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs201984572Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs202044707Uncertain significancesingle nucleotide variantNemaline myopathy 2
- rs760643814Uncertain significancesingle nucleotide variantNemaline myopathy 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.