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
RS747634832 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS747731841 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS747838657 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS747858299 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS748237572 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS748717377 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS749005373 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS749079132 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS749172868 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS749509412 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS749550071 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS749565347 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS749921940 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS749942439 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS750155092 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS750286179 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS750318922 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS750669148 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS752135269 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS752554466 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS752661566 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS753027544 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS753335678 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS753367709 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS753473819 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS753654674 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS754355745 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS754584363 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS754900484 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS755101379 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS755622688 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS755709525 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS755866233 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS756300560 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS756684680 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS756713928 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS756840607 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS757104773 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS757124573 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS757201043 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS757238055 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS757280513 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS757737346 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS757960938 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS757969745 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal recessive ataxia
RS758219775 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS758276004 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS758375991 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
RS758437949 Health Risk Conflicting classifications of pathogenicity —
RS758555741 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type, Emery-Dreifuss muscular dystrophy 4
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