Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Expanding the genetic heterogeneity of intellectual disability. 28940097

2017
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. 23838597

2014
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters. 23673272

2014
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. 22843192

2013
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. 23236289

2012
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 20493457

2010
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Spectrin mutations cause spinocerebellar ataxia type 5. 16429157

2006
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier. 11807096

2002
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Drosophila alpha- and beta-spectrin mutations disrupt presynaptic neurotransmitter release. 11404407

2001
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. 11528393

2001
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system. 11086001

2000
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. 10997877

2000
dbSNP: rs1555815437
rs1555815437
SPTBN4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		ACAGCGGGCGGCGCGCATGAC 0.700 GeneticVariation CLINVAR Mutations in beta-spectrin disrupt axon outgrowth and sarcomere structure. 10811832

2000