Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554923999
rs1554923999
ABCC8
A 0.700 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
dbSNP: rs1382448285
rs1382448285
ABCC8
T 0.700 GeneticVariation CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148

2014
dbSNP: rs1564977373
rs1564977373
ABCC8
T 0.700 CausalMutation CLINVAR Congenital hyperinsulinism. 25323548

2014
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 25201519

2014
dbSNP: rs570388861
rs570388861
ABCC8
A 0.700 GeneticVariation CLINVAR Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning. 24750227

2014
dbSNP: rs750586210
rs750586210
ABCC8
G 0.700 CausalMutation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662

2014
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 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs1382448285
rs1382448285
ABCC8
T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1554923999
rs1554923999
ABCC8
A 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1564977373
rs1564977373
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs193922402
rs193922402
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs368114790
rs368114790
ABCC8
T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Genetic analysis of Italian patients with congenital hyperinsulinism of infancy. 23652837

2013
dbSNP: rs72559722
rs72559722
ABCC8
A 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: rs750586210
rs750586210
ABCC8
G 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs750586210
rs750586210
ABCC8
G 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs786204695
rs786204695
ABCC8
C 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs137852676
rs137852676
ABCC8
T 0.700 GeneticVariation CLINVAR A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening. 22802590

2012
dbSNP: rs368114790
rs368114790
ABCC8
T 0.700 GeneticVariation CLINVAR GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. 22855730

2012
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: rs193922402
rs193922402
ABCC8
A 0.700 GeneticVariation CLINVAR In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. 21411514

2011
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Familial focal congenital hyperinsulinism. 20943779

2011
dbSNP: rs368114790
rs368114790
ABCC8
T 0.700 GeneticVariation CLINVAR The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 21378087

2011