SYNE2 Chromosome 14

Spectrin repeat containing nuclear envelope protein 2
324 variants 324 Health Risk

Upload your DNA to see your personal genotypes for variants in SYNE2.

What This Gene Does
The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Spectrin repeat containing nuclear envelope family|KASH domain containing"
Locus Type
gene with protein product
Location
14q23.2
Ensembl
ENSG00000054654
Associated Conditions (5)
Emery-Dreifuss muscular dystrophy 5
autosomal dominant
SYNE2-related disorder
Spastic ataxia
Cerebral palsy
Key Variants
RS1007865427
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1018808319
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1026697162
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1034591406
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS112833938
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS113146258
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS116823334
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1168529666
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS117647282
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
Health Risk
RS118004985
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
RS1211378375
Conflicting classifications of pathogenicity
SYNE2-related disorder, Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Health Risk
RS1323946751
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
Health Risk
All Variants (324)
RSID Category Clinical Significance Conditions
RS756265438 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS756707482 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS757149542 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS757232346 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS757875136 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS757893794 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS758226884 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS758754933 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS758897129 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS759119344 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS759983332 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS760288753 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS760936547 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS761080544 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS761193543 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS761503203 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS761844853 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS761998546 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS762957203 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763081757 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763133096 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763273577 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763502735 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763645041 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763671728 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS763730249 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS764036360 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS764521226 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS765896679 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS766073729 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS766604570 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS766666230 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS767605722 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS767673156 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS768388576 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS768614412 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS768665395 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS770123186 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS770930910 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS771974044 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS772092387 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS772140514 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS772206760 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS772308280 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS772447674 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS773209564 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS773841153 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS773914389 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS773994020 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS774232167 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
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