Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205

2017
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. 23838597

2014
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Case of infantile onset spinocerebellar ataxia type 5. 22914369

2013
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. 23236289

2012
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis. 22090485

2011
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. 20371805

2010
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 20603325

2010
dbSNP: rs769987150
rs769987150
SPTBN2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Spectrin mutations cause spinocerebellar ataxia type 5. 16429157

2006