SYNE2 Chromosome 14

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

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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
RS375500620 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS375543783 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS375876618 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS376121197 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS376129364 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS376207235 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS376507352 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS376851893 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS377113182 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS377305355 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS377535370 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS45590135 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS532495528 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS538224852 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS538344879 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS546650178 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS551801857 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS553454041 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS556342048 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS560226719 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS564532190 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS568071525 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS570116954 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS570341792 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS572217007 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS60466225 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS61744386 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS73277593 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS745820221 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS746356513 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS747348017 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS748430621 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS748802577 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS749552415 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS74975380 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS749973572 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS751000273 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS751691446 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS751734028 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS752900825 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS752924139 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS752935094 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS753392379 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS753646712 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS753899883 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS754100176 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS754937863 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS755277543 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, SYNE2-related disorder
RS755316066 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
RS755367118 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Emery-Dreifuss muscular dystrophy 5
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