Gene entry
SYNE1
spectrin repeat containing nuclear envelope protein 1
- Chromosome
- 6
- Cytoband
- 6q25.2
- Variants (rsID)
- 276
SYNE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q25.2). Its official name is “spectrin repeat containing nuclear envelope protein 1”. The reference table lists 276 variants (rsID) for this gene.
Clinically classified variants
143 reference-table entries with clinical significance.
- rs111449472Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs114954026Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs116600265Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs13210127Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs138787771Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs140090745Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs140861713Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141380170Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141464488Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141716975Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141796889Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs143070183Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs145195048Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs145911138Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs148997223Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type
- rs150170988Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs150912982Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs214950Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs214955Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type
- rs214976Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type
- rs2256135Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Arthrogryposis multiplex congenita 3, myogenic type
- rs2295190Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs2295191Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs2295192Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs2296254Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs2306914Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs2813487Benignsingle nucleotide variant
- rs2813558Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs34610829Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs34891041Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs35763277Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs3798756Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs4407724Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type
- rs4645434Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type
- rs56877632Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs75817012Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs76160752Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs80265744Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs910415Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs9371581Benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Arthrogryposis multiplex congenita 3, myogenic type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs9397509Benignsingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs112744561Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs113962905Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs115534729Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs117360770Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs118187988Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs138039375Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs138307449Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs138509817Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs138617999Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Intellectual disability
- rs138745849Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs139070088Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs139170018Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs139834542Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs140005424Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs140136749Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs140962690Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141057568Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141170182Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy|Cerebellar ataxia|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141202420Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141586001Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Intellectual disability
- rs141671123Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs141858284Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs142327194Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs142388112Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs142676206Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs143639400Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs143851739Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs143900928Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs144105769Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs144206837Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs144566713Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs144797744Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type
- rs144910464Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs145287138Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs145494541Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs146244669Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs146366996Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs146424389Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs146789107Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs147143947Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs147508177Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs147947903Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs147998933Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Intellectual disability
- rs148008634Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs148376885Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Intellectual disability
- rs149005052Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs149030452Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs149260051Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs149272010Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs149901087Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs150062167Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs150304757Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Abnormality of brain morphology|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs150637898Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs150905950Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy|Cerebellar ataxia|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs151081036Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs180727534Conflicting interpretationssingle nucleotide variantIntellectual disability|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs183683592Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs187410988Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs188146577Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs199701902Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs199762799Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Intellectual disability
- rs199779021Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs200424447Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs201144728Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs201497427Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs201548223Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs201799566Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs201898019Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs201908045Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs35379711Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs35686213Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs371642308Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs373654060Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs375862387Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs376511242Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs41301343Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs577979265Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs754584363Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs757104773Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs758437949Conflicting interpretationssingle nucleotide variant
- rs771573516Conflicting interpretationssingle nucleotide variant
- rs77221231Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs773536890Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs77853132Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs779112403Conflicting interpretationssingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs886043685Conflicting interpretationssingle nucleotide variant
- rs145899734Likely benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Arthrogryposis multiplex congenita 3, myogenic type
- rs199827801Likely benignsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs886044588Likely pathogenicsingle nucleotide variant
- rs606231134Pathogenicsingle nucleotide variantAutosomal recessive ataxia, Beauce type|Autosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs140780725Uncertain significancesingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs143916942Uncertain significancesingle nucleotide variant
- rs146668256Uncertain significancesingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs146769373Uncertain significancesingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs184210675Uncertain significancesingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs189734757Uncertain significancesingle nucleotide variantAutosomal recessive ataxia, Beauce type|Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs190032752Uncertain significancesingle nucleotide variant
- rs199708211Uncertain significancesingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant
- rs200140440Uncertain significancesingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs200346917Uncertain significancesingle nucleotide variant
- rs75153800Uncertain significancesingle nucleotide variantEmery-Dreifuss muscular dystrophy 4, autosomal dominant|Autosomal recessive ataxia, Beauce type
- rs998147Not classifiedmissense_variant
Other listed variants
- rs20585
- rs214966
- rs214992
- rs633891
- rs742784
- rs818441
- rs1359323
- rs1407484
- rs1408459
- rs1554783
- rs1873177
- rs1933689
- rs2013767
- rs2141153
- rs2295193
- rs2306915
- rs2623958
- rs2635438
- rs2635471
- rs2635474
- rs2763024
- rs2763025
- rs2813497
- rs2813507
- rs2813532
- rs3818109
- rs3888239
- rs4035028
- rs4870081
- rs4870084
- rs4870113
- rs6557199
- rs6557213
- rs6557215
- rs6901631
- rs6904737
- rs6909384
- rs6912991
- rs6934016
- rs6940651
- rs6940845
- rs7738189
- rs7741183
- rs7751588
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.