Gene: VPS13B ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. 26104215

2015
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. 26104215

2015
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. 26104215

2015
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 22382802

2012
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 22382802

2012
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 22382802

2012
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Clinical variability of genetic isolates of Cohen syndrome. 21418059

2011
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Clinical variability of genetic isolates of Cohen syndrome. 21418059

2011
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Clinical variability of genetic isolates of Cohen syndrome. 21418059

2011
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. 20656880

2010
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. 20656880

2010
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. 20656880

2010
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 17990063

2007
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs886041185
rs886041185
VPS13B
TA 0.700 CausalMutation CLINVAR Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 16648375

2006
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004
dbSNP: rs120074152
rs120074152
VPS13B
T 0.700 CausalMutation CLINVAR Analysis of the human VPS13 gene family. 15498460

2004
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Analysis of the human VPS13 gene family. 15498460

2004
dbSNP: rs1554884733
rs1554884733
VPS13B
CCCGT 0.700 CausalMutation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358

2004