DYSF

Clinically classified variants

84 reference-table entries with clinical significance.

• rs11558179Benignsingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs11687223Benignsingle nucleotide variantMiyoshi muscular dystrophy 1
• rs11897186Benignsingle nucleotide variant
• rs12995778Benignsingle nucleotide variant
• rs141476432Benignsingle nucleotide variantQualitative or quantitative defects of dysferlin
• rs141536854Benignsingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs17007067Benignsingle nucleotide variant
• rs2303602Benignsingle nucleotide variant
• rs34211915Benignsingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs35721373Benignsingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Distal myopathy with anterior tibial onset
• rs560856407Benignsingle nucleotide variantQualitative or quantitative defects of dysferlin
• rs61738567Benignsingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs6546693Benignsingle nucleotide variant
• rs114986640Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin
• rs115407852Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|DYSF-Related Disorders|Miyoshi muscular dystrophy 1
• rs115849497Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs116204385Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs116733194Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs121908954Conflicting interpretationssingle nucleotide variantMiyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|DYSF-Related Disorders|Distal myopathy with anterior tibial onset
• rs121908962Conflicting interpretationssingle nucleotide variantMiyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin
• rs139754493Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Distal myopathy with anterior tibial onset
• rs141720146Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs141818764Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs141867897Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1
• rs142483266Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs145401010Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs146970014Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1
• rs147263499Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs147483765Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs148055736Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs148652047Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin
• rs148697028Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs148732505Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin
• rs148858485Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs150355624Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs150917600Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs191337920Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs191746041Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin
• rs199955501Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Autosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1
• rs2303603Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs34997054Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Muscular dystrophy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs34999029Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs373328706Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs376293526Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs377056951Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs544993852Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs59915619Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs61740288Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs62145939Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs74423119Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs7573406Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs75796187Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs76086153Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs773837400Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B
• rs777167646Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of dysferlin
• rs79899601Conflicting interpretationssingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1
• rs371227553Likely benignsingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs121908953Pathogenicsingle nucleotide variantMiyoshi muscular dystrophy 1
• rs121908955Pathogenicsingle nucleotide variantMiyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Abnormality of the musculature
• rs121908956Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin
• rs121908959Pathogenicsingle nucleotide variantDistal myopathy with anterior tibial onset|Autosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin
• rs121908963Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs140108514Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy type 2B|Distal myopathy with anterior tibial onset
• rs141497053Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy
• rs150877497Pathogenicsingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|Distal myopathy with anterior tibial onset
• rs189923208Pathogenicsingle nucleotide variantQualitative or quantitative defects of dysferlin
• rs201869739Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Miyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy type 2B|Distal myopathy with anterior tibial onset
• rs202044973Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs369607332Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin|Abnormality of the musculature
• rs370874727Pathogenicsingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs373585652Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs377735262Pathogenicsingle nucleotide variantDYSF-Related Disorders|Autosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs398123782PathogenicDeletionAutosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Qualitative or quantitative defects of dysferlin
• rs398123787Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Qualitative or quantitative defects of dysferlin
• rs746315830Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2B|Miyoshi muscular dystrophy 1|Abnormality of the musculature|Qualitative or quantitative defects of dysferlin
• rs758180890Pathogenicsingle nucleotide variantDYSF- Related Disorder|Miyoshi muscular dystrophy 1|Autosomal recessive limb-girdle muscular dystrophy type 2B|Distal myopathy with anterior tibial onset|Qualitative or quantitative defects of dysferlin
• rs145832952Uncertain significancesingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs146588926Uncertain significancesingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs182185801Uncertain significancesingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs185119682Uncertain significancesingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs185617318Uncertain significancesingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs199543257Uncertain significancesingle nucleotide variantQualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B
• rs201209494Uncertain significancesingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B|See cases
• rs35297901Uncertain significancesingle nucleotide variantMiyoshi myopathy|Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B

Other listed variants

• rs733654
• rs734248
• rs847622
• rs1529405
• rs1529409
• rs1736168
• rs3791828
• rs4270372
• rs4852258
• rs6546698
• rs6713986
• rs6758371
• rs7568834
• rs7582270
• rs9309457
• rs10171267
• rs10190993
• rs10865385
• rs11884233
• rs12151639
• rs12467684
• rs12471152
• rs12993484
• rs13018726
• rs13024390
• rs13030767
• rs13406110
• rs13413696
• rs13415604
• rs17007083
• rs17429787
• rs17430004
• rs17501682
• rs17616999
• rs34278534
• rs34464653
• rs34865057
• rs57944653
• rs62143762
• rs62145897
• rs71416710
• rs72827541

Public references

• NCBI Gene
• Ensembl
• ClinVar