Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420

2018
dbSNP: rs372307320
rs372307320
ABCC8
T 0.800 GeneticVariation CLINVAR Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 28442472

2017
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
dbSNP: rs200670692
rs200670692
ABCC8
T 0.800 GeneticVariation CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238

2016
dbSNP: rs372307320
rs372307320
ABCC8
T 0.800 GeneticVariation CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667

2016
dbSNP: rs72559734
rs72559734
ABCC8
T 0.800 GeneticVariation CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688

2016
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667

2016
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 25781672

2015
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531

2015
dbSNP: rs1446306735
rs1446306735
ABCC8
T 0.800 GeneticVariation CLINVAR Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs201682634
rs201682634
ABCC8
A 0.800 GeneticVariation CLINVAR Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 26740944

2015
dbSNP: rs201682634
rs201682634
ABCC8
A 0.800 GeneticVariation CLINVAR Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 25518065

2015
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 26246406

2015
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662

2014
dbSNP: rs201682634
rs201682634
ABCC8
A 0.800 GeneticVariation CLINVAR Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 25201519

2014
dbSNP: rs201682634
rs201682634
ABCC8
A 0.800 GeneticVariation CLINVAR Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. 24645945

2014
dbSNP: rs72559715
rs72559715
ABCC8
T 0.800 GeneticVariation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662

2014
dbSNP: rs761749884
rs761749884
ABCC8
T 0.800 GeneticVariation CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148

2014
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. 24686051

2014
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. 23771172

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 24145932

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.800 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1446306735
rs1446306735
ABCC8
T 0.800 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1446306735
rs1446306735
ABCC8
T 0.800 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013