Gene: SON ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation 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 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: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation 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: rs886039774
rs886039774
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: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs886039774
rs886039774
SON
A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1382415023
rs1382415023
SON
A 0.700 GeneticVariation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013