Gene: SON ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. 16033648

2005
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. 16033648

2005
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013

1999
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013

1999
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680

2016
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680

2016
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. 12606581

2003
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. 12606581

2003
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010
dbSNP: rs1555899379
rs1555899379
SON
T 0.700 CausalMutation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015