Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1008906426
rs1008906426
ABCC8
T 0.700 GeneticVariation CLINVAR Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 24145932

2013
dbSNP: rs1008906426
rs1008906426
ABCC8
T 0.700 GeneticVariation CLINVAR Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism. 23067144

2013
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. 18339976

2008
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes. 20943781

2011
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662

2014
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 GeneticVariation CLINVAR Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. 14692646

2004
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 GeneticVariation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 GeneticVariation CLINVAR Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. 18339976

2008
dbSNP: rs1057516404
rs1057516404
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516439
rs1057516439
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516509
rs1057516509
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516542
rs1057516542
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516585
rs1057516585
ABCC8
T 0.700 GeneticVariation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs1057516589
rs1057516589
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516591
rs1057516591
ABCC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516654
rs1057516654
ABCC8
GC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516655
rs1057516655
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516665
rs1057516665
ABCC8
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516718
rs1057516718
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs1057516718
rs1057516718
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662

2014
dbSNP: rs1057516890
rs1057516890
ABCC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516946
rs1057516946
ABCC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517015
rs1057517015
ABCC8
C 0.700 GeneticVariation CLINVAR