SYNE1 Chromosome 6

Spectrin repeat containing nuclear envelope protein 1
882 variants 882 Health Risk

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What This Gene Does
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Spectrin repeat containing nuclear envelope family|KASH domain containing"
Locus Type
gene with protein product
Location
6q25.2
Ensembl
ENSG00000131018
Associated Conditions (41)
Autosomal recessive ataxia
Beauce type
Emery-Dreifuss muscular dystrophy 4
autosomal dominant
Abnormal brain morphology
Inborn genetic diseases
SYNE1-related disorder
Hereditary ataxia
Arthrogryposis syndrome
Intellectual disability
Arthrogryposis multiplex congenita 3
myogenic type
Thyroid cancer
nonmedullary
1
Limb-girdle muscular dystrophy
Spastic ataxia
Clear cell carcinoma of kidney
Hepatocellular carcinoma
Familial cancer of breast
+21 more conditions
Key Variants
RS1014746277
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS1020832262
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS1057521423
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS1057522688
Conflicting classifications of pathogenicity
Health Risk
RS1057523855
Conflicting classifications of pathogenicity
Health Risk
RS1060499769
Conflicting classifications of pathogenicity
Abnormal brain morphology, Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Health Risk
RS111367233
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS111511993
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS112744561
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS113163375
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
RS113962905
Conflicting classifications of pathogenicity
Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
Health Risk
RS114858512
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
Health Risk
All Variants (882)
RSID Category Clinical Significance Conditions
RS1477560269 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS147841761 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS147870520 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS147947903 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS147998933 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS148008634 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS148028681 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS148240825 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS148486281 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS148522587 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS148606479 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS148664724 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS148731167 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS148935596 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149005052 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149008539 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149030452 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149109801 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149146258 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149215868 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149260051 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149272010 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149317945 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149330063 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149415204 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149536991 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS149712464 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS149901087 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150062167 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150072383 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150121030 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150266354 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150335599 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150376715 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150387338 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150409035 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150550013 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150562892 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150604289 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150637898 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150700669 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150702500 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS150811468 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS150905950 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS151081036 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS151156420 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS151247098 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS1554226552 Health Risk Conflicting classifications of pathogenicity —
RS1554372048 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS1554410681 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
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