ABCC8 — 2769 ClinVar variants

All ClinVar germline ABCC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 783 flagged for review →

155 Pathogenic · 89 Pathogenic/Likely pathogenic · 209 Likely pathogenic · 352 Conflicting · 79 Benign · 14 Benign/Likely benign · 1077 Likely benign · 794 Uncertain significance

Full ABCC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 783

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 18

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ABCC8 p.Arg1182Gln Pathogenic/Likely pathogenic Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Arg1420Cys Pathogenic/Likely pathogenic Multiple submitters
diabetes mellitus, permanent neonatal 3
ABCC8 p.Asn188Ser Pathogenic/Likely pathogenic Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Asp1471Asn Pathogenic Multiple submitters
ABCC8-related channelopathies
ABCC8 p.Gln211Lys Pathogenic Multiple submitters
permanent neonatal diabetes mellitus
ABCC8 p.Val607Met Likely pathogenic Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Ala870Val Pathogenic Single submitter
type 2 diabetes mellitus
ABCC8 p.Arg598Gln Likely pathogenic Single submitter
atrial septal defect
ABCC8 p.Asn23His Likely pathogenic Single submitter
ABCC8 p.Asn32Ser Likely pathogenic Single submitter
ABCC8 p.Gln1458Glu Pathogenic Single submitter
ABCC8 p.Glu208Lys Likely pathogenic Single submitter
ABCC8 p.Ile49Phe Likely pathogenic Single submitter
neonatal diabetes mellitus
ABCC8 p.Ser1422Thr Likely pathogenic Single submitter
neonatal diabetes mellitus
ABCC8 p.Val215Ile Likely pathogenic Single submitter
neonatal diabetes mellitus
ABCC8 p.Val21Phe Likely pathogenic Single submitter
ABCC8 p.Ile1424Val Pathogenic No assertion criteria
diabetes mellitus, permanent neonatal 3
ABCC8 p.Val86Gly Pathogenic No assertion criteria
diabetes mellitus, permanent neonatal 3

Predictors agree, ClinVar conflicts 70

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ABCC8 p.Ala113Val Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Ala1263Val Conflicting Single submitter
neonatal diabetes mellitus
ABCC8 p.Ala1369Thr Conflicting Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala1472Thr Conflicting Single submitter
type 2 diabetes mellitus
ABCC8 p.Ala355Thr Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala625Val Conflicting Single submitter
monogenic diabetes
ABCC8 p.Ala726Thr Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala977Thr Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg1568Gln Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Arg1578His Conflicting Single submitter
diabetes mellitus, permanent neonatal 3
ABCC8 p.Arg275Gln Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg306Cys Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Arg306Leu Conflicting Single submitter
ABCC8-related disorder
ABCC8 p.Arg495Gln Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Arg526His Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Arg526Leu Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Arg653Gln Conflicting Single submitter
permanent neonatal diabetes mellitus
ABCC8 p.Arg755Gln Conflicting Single submitter
Inborn genetic diseases
ABCC8 p.Arg841Gln Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Asn1480Asp Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Asn397His Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Asn72Ser Conflicting Single submitter
type 2 diabetes mellitus
ABCC8 p.Asp1038Asn Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Asp853Asn Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Asp879Asn Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Asp897Tyr Conflicting Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Asp963Gly Conflicting Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Cys26Ser Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Cys418Arg Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Gln474Arg Conflicting Single submitter
ABCC8-related disorder
ABCC8 p.Gln808Lys Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu100Lys Conflicting Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Glu1442Val Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Gly1484Arg Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gly1484Glu Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gly163Ser Conflicting Single submitter
ABCC8-related disorder
ABCC8 p.Gly316Arg Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Gly415Arg Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gly70Arg Conflicting Single submitter
ABCC8-related disorder
ABCC8 p.His1097Pro Conflicting Single submitter
Inborn genetic diseases
ABCC8 p.Ile1075Thr Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ile1403Val Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ile1518Ser Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ile395Phe Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Ile462Val Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ile49Val Conflicting Single submitter
diabetes mellitus, permanent neonatal 3
ABCC8 p.Leu1147Arg Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Leu1430Phe Conflicting Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Leu1450Pro Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Leu40Arg Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Leu503Pro Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Leu724Pro Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Leu727Arg Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Lys1336Asn Conflicting Single submitter
permanent neonatal diabetes mellitus
ABCC8 p.Lys1564Glu Conflicting Single submitter
permanent neonatal diabetes mellitus
ABCC8 p.Lys889Thr Conflicting Single submitter
monogenic diabetes
ABCC8 p.Met80Arg Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Phe1181Cys Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Pro1370Leu Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Thr1531Pro Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Thr548Met Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Thr757Arg Conflicting Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Trp1246Arg Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Trp688Gly Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Val1155Ile Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Val1364Ile Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Val1364Phe Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Val1572Ile Conflicting Single submitter
diabetes mellitus, permanent neonatal 3
ABCC8 p.Val324Met Conflicting Single submitter
diabetes mellitus, permanent neonatal 3
ABCC8 p.Val715Met Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1

Predictors lean, ClinVar uncertain 428

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 428

ABCC8 p.Ala1152Asp Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala1220Thr Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala1410Thr Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala1453Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Ala1536Val Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala309Gly Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ala390Thr Uncertain significance Multiple submitters
ABCC8-related disorder
ABCC8 p.Ala471Asp Uncertain significance Multiple submitters
ABCC8 p.Ala635Thr Uncertain significance Multiple submitters
ABCC8 p.Ala726Ser Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Ala736Ser Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ala993Thr Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Arg1098His Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Arg1217Gly Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg1273Trp Uncertain significance Multiple submitters
monogenic diabetes
ABCC8 p.Arg1379Ser Uncertain significance Multiple submitters
diabetes mellitus, permanent neonatal 3
ABCC8 p.Arg1530Cys Uncertain significance Multiple submitters
ABCC8 p.Arg16Trp Uncertain significance Multiple submitters
ABCC8 p.Arg216His Uncertain significance Multiple submitters
type 2 diabetes mellitus
ABCC8 p.Arg248Gln Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Arg285Trp Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Arg306Ser Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Arg486Gln Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg495Trp Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Arg521Gln Uncertain significance Multiple submitters
type 2 diabetes mellitus
ABCC8 p.Arg648His Uncertain significance Multiple submitters
ABCC8 p.Arg650His Uncertain significance Multiple submitters
ABCC8 p.Arg657Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Arg705Gln Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Arg834His Uncertain significance Multiple submitters
ABCC8 p.Arg877Gln Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Arg918Lys Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg933Gln Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg957Gly Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg992Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Asn1292Ser Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Asn1517Asp Uncertain significance Multiple submitters
ABCC8 p.Asp310Val Uncertain significance Multiple submitters
ABCC8-related disorder
ABCC8 p.Asp325Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Asp424Asn Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Asp673Asn Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Asp760Asn Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Asp760Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Cys677Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Cys805Tyr Uncertain significance Multiple submitters
ABCC8 p.Gln369Arg Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Gln485Lys Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Gln608Arg Uncertain significance Multiple submitters
ABCC8 p.Gln731Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Gln953Pro Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu1205Lys Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu1252Gly Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Glu1558Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Glu628Lys Uncertain significance Multiple submitters
permanent neonatal diabetes mellitus
ABCC8 p.Glu746Lys Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Glu925Gln Uncertain significance Multiple submitters
ABCC8 p.Glu980Lys Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu994Lys Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Gly1375Arg Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gly1381Ser Uncertain significance Multiple submitters
type 2 diabetes mellitus
ABCC8 p.Gly25Val Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gly296Arg Uncertain significance Multiple submitters
diabetes mellitus, permanent neonatal 3
ABCC8 p.Gly316Glu Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Gly457Arg Uncertain significance Multiple submitters
ABCC8 p.Gly505Arg Uncertain significance Multiple submitters
ABCC8 p.Gly658Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Gly658Val Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Gly826Asp Uncertain significance Multiple submitters
ABCC8 p.Gly92Ser Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.His1097Arg Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.His293Arg Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ile1423Ser Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Ile1456Met Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ile1456Val Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ile196Asn Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ile245Thr Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ile538Thr Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ile681Thr Uncertain significance Multiple submitters
ABCC8 p.Ile995Val Uncertain significance Multiple submitters
ABCC8 p.Leu1425Pro Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Leu366Phe Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Leu407Gln Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Leu511Pro Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Leu511Val Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Leu663Gln Uncertain significance Multiple submitters
ABCC8 p.Leu666Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Leu722Phe Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Lys1179Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Lys1343Met Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Met181Leu Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Met902Ile Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Pro207Leu Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Pro2Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Pro2Thr Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Pro35Ser Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Pro589Leu Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Pro629Leu Uncertain significance Multiple submitters
ABCC8 p.Ser1039Arg Uncertain significance Multiple submitters
ABCC8-related disorder
ABCC8 p.Ser1053Asn Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ser1482Arg Uncertain significance Multiple submitters
ABCC8 p.Ser376Phe Uncertain significance Multiple submitters
monogenic diabetes
ABCC8 p.Thr1397Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Thr1531Ala Uncertain significance Multiple submitters
ABCC8 p.Thr393Ile Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Trp739Cys Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Tyr230Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Val1025Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Val1207Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Val1259Met Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Val1360Met Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Val1496Met Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Val222Met Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Val357Ile Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Val421Ile Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Val563Ile Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Val601Ile Uncertain significance Multiple submitters
ABCC8-related disorder
ABCC8 p.Val605Met Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Val769Met Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala1001Thr Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala1007Pro Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala1040Thr Uncertain significance Single submitter
ABCC8 p.Ala110Val Uncertain significance Single submitter
ABCC8 p.Ala1154Val Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala1171Thr Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala1263Glu Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala1302Val Uncertain significance Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ala1330Ser Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala1509Val Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala1536Pro Uncertain significance Single submitter
ABCC8 p.Ala1536Thr Uncertain significance Single submitter
ABCC8 p.Ala235Thr Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala272Thr Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala284Val Uncertain significance Single submitter
ABCC8 p.Ala290Pro Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala294Asp Uncertain significance Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ala422Val Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala576Asp Uncertain significance Single submitter
ABCC8 p.Ala617Thr Uncertain significance Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ala640Thr Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala847Pro Uncertain significance Single submitter
maturity-onset diabetes of the young
ABCC8 p.Ala858Thr Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala976Ser Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala977Pro Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Arg1048Gly Uncertain significance Single submitter
ABCC8 p.Arg1214Gly Uncertain significance Single submitter
ABCC8 p.Arg1221Gln Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Arg1273Gly Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Arg1486Gly Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Arg1538Gly Uncertain significance Single submitter
maturity-onset diabetes of the young
ABCC8 p.Arg16Pro Uncertain significance Single submitter

Predictors split 267

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 267

ABCC8 p.Ala1152Val Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ala1310Ser Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala1457Thr Pathogenic Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala269Asp Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala269Val Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Ala375Thr Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Ala464Val Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala471Val Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ala478Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Ala640Val Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala847Thr Uncertain significance Multiple submitters
ABCC8-related disorder
ABCC8 p.Arg1103Gln Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg1313His Uncertain significance Multiple submitters
type 2 diabetes mellitus
ABCC8 p.Arg1393Cys Pathogenic/Likely pathogenic Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Arg1553Trp Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg202Trp Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Arg265Gln Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Arg265Trp Uncertain significance Multiple submitters
ABCC8 p.Arg275Trp Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Arg297Met Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Arg298Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Arg648Cys Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg653Trp Uncertain significance Multiple submitters
ABCC8-related disorder
ABCC8 p.Arg797Trp Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Arg957His Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg998Pro Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Asn1348Ser Uncertain significance Multiple submitters
monogenic diabetes
ABCC8 p.Asp1030Asn Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Asp1354Asn Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu128Lys Pathogenic/Likely pathogenic Multiple submitters
type 2 diabetes mellitus
ABCC8 p.Glu1442Asp Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Glu1442Lys Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gly448Ala Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Gly505Ser Uncertain significance Multiple submitters
ABCC8 p.Gly7Arg Likely pathogenic Multiple submitters
ABCC8-related disorder
ABCC8 p.His36Tyr Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ile1423Val Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ile148Thr Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Ile446Thr Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Leu135Val Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Leu175Gln Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Leu428Val Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Leu556Phe Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Leu590Val Uncertain significance Multiple submitters
ABCC8 p.Lys57Arg Uncertain significance Multiple submitters
maturity-onset diabetes of the young
ABCC8 p.Phe132Leu Pathogenic/Likely pathogenic Multiple submitters
neonatal diabetes mellitus
ABCC8 p.Phe1391Val Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Pro1467Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Ser1018Leu Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ser1448Gly Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Ser1500Gly Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Ser987Phe Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Thr1138Met Uncertain significance Multiple submitters
diabetes mellitus, permanent neonatal 3
ABCC8 p.Thr1534Asn Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Thr371Ile Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Thr524Met Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Trp231Arg Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Tyr124Phe Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Tyr1293Asp Uncertain significance Multiple submitters
permanent neonatal diabetes mellitus
ABCC8 p.Tyr263Asp Uncertain significance Multiple submitters
permanent neonatal diabetes mellitus
ABCC8 p.Val1173Met Uncertain significance Multiple submitters
diabetes mellitus, permanent neonatal 3
ABCC8 p.Val1351Met Uncertain significance Multiple submitters
Inborn genetic diseases
ABCC8 p.Val1429Ile Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 2
ABCC8 p.Val1539Met Uncertain significance Multiple submitters
transient neonatal diabetes mellitus
ABCC8 p.Val185Met Uncertain significance Multiple submitters
ABCC8 p.Val477Met Uncertain significance Multiple submitters
hypoglycemia, leucine-induced
ABCC8 p.Val560Met Benign/Likely benign Multiple submitters
permanent neonatal diabetes mellitus
ABCC8 p.Ala110Thr Uncertain significance Single submitter
type 2 diabetes mellitus
ABCC8 p.Ala1152Thr Conflicting Single submitter
maturity-onset diabetes of the young
ABCC8 p.Ala1166Thr Uncertain significance Single submitter
ABCC8 p.Ala1184Val Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala1262Thr Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Ala1262Val Uncertain significance Single submitter
ABCC8 p.Ala1263Gly Uncertain significance Single submitter
ABCC8 p.Ala1457Val Pathogenic Single submitter
ABCC8 p.Ala1574Thr Uncertain significance Single submitter
ABCC8 p.Ala235Val Uncertain significance Single submitter
ABCC8 p.Ala240Thr Uncertain significance Single submitter
ABCC8 p.Ala30Thr Uncertain significance Single submitter
ABCC8 p.Ala355Asp Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Ala365Val Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ala478Gly Uncertain significance Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ala4Val Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Ala513Thr Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Ala770Gly Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Arg1144Cys Uncertain significance Single submitter
ABCC8 p.Arg1182Leu Likely pathogenic Single submitter
ABCC8 p.Arg1221Trp Uncertain significance Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Arg1352Cys Uncertain significance Single submitter
ABCC8 p.Arg1352His Conflicting Single submitter
diabetes mellitus, permanent neonatal 3
ABCC8 p.Arg1393His Conflicting Single submitter
Hereditary hyperinsulinism
ABCC8 p.Arg1420His Conflicting Single submitter
type 2 diabetes mellitus
ABCC8 p.Arg1530His Uncertain significance Single submitter
ABCC8-related disorder
ABCC8 p.Arg1568Trp Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Arg1578Pro Uncertain significance Single submitter
ABCC8 p.Arg168Pro Likely pathogenic Single submitter
ABCC8 p.Arg216Cys Uncertain significance Single submitter
ABCC8 p.Arg216Pro Uncertain significance Single submitter
ABCC8 p.Arg285Gln Conflicting Single submitter
pulmonary arterial hypertension
ABCC8 p.Arg486Trp Uncertain significance Single submitter
ABCC8 p.Arg519Cys Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Arg657Trp Conflicting Single submitter
Inborn genetic diseases
ABCC8 p.Arg702His Uncertain significance Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Arg755Trp Uncertain significance Single submitter
ABCC8 p.Arg766Thr Uncertain significance Single submitter
ABCC8 p.Arg825Gln Uncertain significance Single submitter
ABCC8 p.Arg834Cys Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Arg909Trp Uncertain significance Single submitter
ABCC8 p.Arg933Gly Uncertain significance Single submitter
ABCC8 p.Arg957Cys Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Arg992Cys Uncertain significance Single submitter
neonatal diabetes mellitus
ABCC8 p.Asn24Lys Uncertain significance Single submitter
congenital isolated hyperinsulinism
ABCC8 p.Asn32Asp Uncertain significance Single submitter
ABCC8 p.Asn72Asp Uncertain significance Single submitter
ABCC8 p.Asn794Lys Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Asp1193Val Conflicting Single submitter
diabetes mellitus, permanent neonatal 3
ABCC8 p.Asp1427Glu Uncertain significance Single submitter
maturity-onset diabetes of the young
ABCC8 p.Asp1546Asn Uncertain significance Single submitter
ABCC8 p.Asp812Asn Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Asp904Tyr Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Cys435Tyr Likely pathogenic Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gln1133Arg Uncertain significance Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.Gln1133His Likely pathogenic Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Gln166Lys Uncertain significance Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Gln819His Uncertain significance Single submitter
ABCC8 p.Gln821Arg Uncertain significance Single submitter
ABCC8 p.Glu1326Lys Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu971Lys Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Glu971Val Uncertain significance Single submitter
maturity-onset diabetes of the young
ABCC8 p.Glu981Lys Uncertain significance Single submitter
ABCC8 p.Gly1008Ser Uncertain significance Single submitter
ABCC8 p.Gly1309Glu Uncertain significance Single submitter
ABCC8 p.Gly214Arg Uncertain significance Single submitter
ABCC8 p.Gly251Arg Uncertain significance Single submitter
ABCC8 p.Gly342Arg Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.Gly342Trp Conflicting Single submitter
transient neonatal diabetes mellitus
ABCC8 p.Gly505Cys Uncertain significance Single submitter
ABCC8 p.Gly52Arg Uncertain significance Single submitter
hypoglycemia, leucine-induced
ABCC8 p.Gly684Ala Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Gly7Asp Conflicting Single submitter
ABCC8 p.Gly7Ser Uncertain significance Single submitter
ABCC8 p.His103Tyr Uncertain significance Single submitter
hyperinsulinemic hypoglycemia, familial, 1
ABCC8 p.His105Tyr Conflicting Single submitter
diabetes mellitus, transient neonatal, 2
ABCC8 p.His125Gln Conflicting Single submitter
monogenic diabetes
ABCC8 p.His1363Tyr Uncertain significance Single submitter
ABCC8 p.Ile1120Leu Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ile1374Met Uncertain significance Single submitter
ABCC8 p.Ile1402Val Uncertain significance Single submitter
Inborn genetic diseases
ABCC8 p.Ile1404Val Uncertain significance Single submitter
ABCC8 p.Ile1409Val Conflicting Single submitter

All ABCC8 variants

Pathogenic 155

c.1630+1G>T Multiple submitters Hereditary hyperinsulinism
c.1817+1G>C Multiple submitters type 2 diabetes mellitus
c.2117-1G>A Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
c.2117-2A>T Multiple submitters ABCC8-related disorder
c.2222+1G>T Multiple submitters familial hyperinsulinism
c.3163-1G>A Multiple submitters type 2 diabetes mellitus
c.3989-9G>A Multiple submitters diabetes mellitus, permanent neonatal 3
p.Ala1457Thr Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Arg1214Trp Multiple submitters Hereditary hyperinsulinism
p.Arg1250Ter Multiple submitters Inborn genetic diseases
p.Arg1436Gln Multiple submitters Hereditary hyperinsulinism
p.Arg1493Trp Multiple submitters diabetes mellitus, permanent neonatal 3
p.Arg248Ter Multiple submitters Hereditary hyperinsulinism
p.Arg598Ter Multiple submitters Hereditary hyperinsulinism
p.Arg705Ter Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Arg825Trp Multiple submitters diabetes mellitus, transient neonatal, 2
p.Arg841Ter Multiple submitters familial hyperinsulinism
p.Arg998Ter Multiple submitters Hereditary hyperinsulinism
p.Asn32Lys Multiple submitters type 2 diabetes mellitus
p.Asp1471Asn Multiple submitters ABCC8-related channelopathies ⚠
p.Gln211Lys Multiple submitters permanent neonatal diabetes mellitus ⚠
p.Gln444Ter Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Gln632fs Multiple submitters diabetes mellitus, transient neonatal, 2
p.Gln934Ter Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Glu100Ter Multiple submitters type 2 diabetes mellitus
p.Glu1506Lys Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Glu756Ter Multiple submitters type 2 diabetes mellitus
p.Glu824Ter Multiple submitters type 2 diabetes mellitus
p.His627fs Multiple submitters diabetes mellitus, permanent neonatal 3
p.Ile1511Thr Multiple submitters familial hyperinsulinism
p.Ile450fs Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Leu1170fs Multiple submitters type 2 diabetes mellitus
p.Lys329Ter Multiple submitters
p.Met429Ter Multiple submitters Hereditary hyperinsulinism
p.Phe1387del Multiple submitters Hereditary hyperinsulinism
p.Phe545fs Multiple submitters Inborn genetic diseases
p.Pro1441fs Multiple submitters Hereditary hyperinsulinism
p.Ser12Ter Multiple submitters familial hyperinsulinism
p.Ser1386Phe Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Thr1044fs Multiple submitters Hereditary hyperinsulinism
p.Trp688Ter Multiple submitters type 2 diabetes mellitus
p.Tyr179Cys Multiple submitters familial hyperinsulinism
p.Tyr491Ter Multiple submitters Hereditary hyperinsulinism
p.Tyr539Ter Multiple submitters familial hyperinsulinism
p.Val1259fs Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Val1522Met Multiple submitters diabetes mellitus, permanent neonatal 3
p.Val28fs Multiple submitters Hereditary hyperinsulinism
p.Val645fs Multiple submitters type 2 diabetes mellitus
c.1011+1G>T Single submitter
c.148+1del Single submitter
c.2117-2A>G Single submitter ABCC8-related disorder
c.2117-3_2117-2inv Single submitter
c.2921-2A>G Single submitter Hereditary hyperinsulinism
c.3329+2T>C Single submitter type 2 diabetes mellitus
c.3650+2T>G Single submitter hypoglycemia, leucine-induced
c.3754-17_3820del Single submitter
c.4119+1G>A Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.4545+1del Single submitter
c.4608+1G>A Single submitter
c.85_1011+8del Single submitter
p.Ala1277fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala1457Val Single submitter ⚠
p.Ala380fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala652fs Single submitter
p.Ala870Val Single submitter type 2 diabetes mellitus ⚠
p.Arg1095Ter Single submitter
p.Arg1530fs Single submitter
p.Arg705fs Single submitter
p.Arg766fs Single submitter
p.Arg946fs Single submitter familial hyperinsulinism
p.Asp1192fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Asp1471His Single submitter
p.Asp1505Glu Single submitter
p.Asp812fs Single submitter
p.Asp818fs Single submitter
p.Cys26fs Single submitter
p.Cys677Ter Single submitter
p.Cys717Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gln1190Ter Single submitter
p.Gln1341fs Single submitter
p.Gln1372Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gln1458Glu Single submitter ⚠
p.Gln1485Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gln19Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gln219Ter Single submitter
p.Gln264Ter Single submitter
p.Gln335Ter Single submitter
p.Gln485fs Single submitter
p.Gln485His Single submitter
p.Gln485Ter Single submitter
p.Gln54Ter Single submitter type 2 diabetes mellitus
p.Gln608Ter Single submitter type 2 diabetes mellitus
p.Gln714fs Single submitter
p.Gln891Ter Single submitter
p.Gln936Ter Single submitter type 2 diabetes mellitus
p.Glu1228fs Single submitter
p.Glu1323fs Single submitter
p.Glu1326Ter Single submitter
p.Glu208Ter Single submitter Inborn genetic diseases
p.Glu490Ter Single submitter
p.Glu790Ter Single submitter
p.Glu981Ter Single submitter
p.Glu994Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly1383Glu Single submitter
p.Gly1478Arg Single submitter familial hyperinsulinism
p.Gly457Ter Single submitter
p.His125fs Single submitter
p.His862fs Single submitter
p.Ile1511Asn Single submitter
p.Ile287fs Single submitter type 2 diabetes mellitus
p.Ile76fs Single submitter
p.Leu1147fs Single submitter
p.Leu1317_Leu1318insTer Single submitter
p.Leu1425fs Single submitter
p.Leu182fs Single submitter
p.Leu3fs Single submitter
p.Leu590fs Single submitter
p.Leu592fs Single submitter Hereditary hyperinsulinism
p.Leu604fs Single submitter
p.Leu985fs Single submitter
p.Lys1384Thr Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Lys480fs Single submitter
p.Lys775fs Single submitter
p.Met112fs Single submitter
p.Met1Thr Single submitter
p.Phe1392Val Single submitter
p.Phe518fs Single submitter
p.Phe559Ter Single submitter
p.Phe5fs Single submitter Hereditary hyperinsulinism
p.Phe686Ser Single submitter
p.Pro1428fs Single submitter hypoglycemia, leucine-induced
p.Pro1467fs Single submitter
p.Pro207fs Single submitter type 2 diabetes mellitus
p.Pro317fs Single submitter type 2 diabetes mellitus
p.Ser1013Ter Single submitter
p.Thr200fs Single submitter hypoglycemia, leucine-induced
p.Trp1032Ter Single submitter
p.Trp1246Ter Single submitter
p.Trp1296Ter Single submitter
p.Trp143Ter Single submitter
p.Trp288Ter Single submitter
p.Trp898Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Tyr1353Ter Single submitter
p.Tyr344Ter Single submitter
p.Tyr356Ter Single submitter
p.Val1062fs Single submitter
p.Val1429fs Single submitter
p.Val215fs Single submitter
c.(?_1818 No assertion criteria hyperinsulinemic hypoglycemia, familial, 1
p.Glu382Lys No assertion criteria diabetes mellitus, permanent neonatal 3 ⚠
p.Gly716Val No assertion criteria hyperinsulinemic hypoglycemia, familial, 1
p.Ile1424Val No assertion criteria diabetes mellitus, permanent neonatal 3 ⚠
p.Leu213Arg No assertion criteria diabetes mellitus, permanent neonatal 3 ⚠
p.Leu582Val No assertion criteria diabetes mellitus, transient neonatal, 2
p.Val86Gly No assertion criteria diabetes mellitus, permanent neonatal 3 ⚠

Pathogenic/Likely pathogenic 89

c.1176+2T>C Multiple submitters Hereditary hyperinsulinism
c.1333-1013A>G Multiple submitters diabetes mellitus, permanent neonatal 3
c.148+1G>A Multiple submitters hypoglycemia, leucine-induced
c.1630+1G>A Multiple submitters familial hyperinsulinism
c.1817+2T>C Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
c.2041-21G>A Multiple submitters Inborn genetic diseases
c.2116+1G>T Multiple submitters type 2 diabetes mellitus
c.2116+2T>C Multiple submitters Autosomal semidominant ABCC8-related disorders
c.2694+1G>A Multiple submitters type 2 diabetes mellitus
c.2921-9G>A Multiple submitters Hereditary hyperinsulinism
c.3400-1G>A Multiple submitters familial hyperinsulinism
c.3557+1G>A Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
c.3650+2T>C Multiple submitters hypoglycemia, leucine-induced
c.3868-1G>A Multiple submitters Hereditary hyperinsulinism
c.3988+2T>C Multiple submitters Hereditary hyperinsulinism
c.4308-2A>G Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
c.4412-13G>A Multiple submitters Hereditary hyperinsulinism
p.Ala1492Thr Multiple submitters familial hyperinsulinism
p.Ala269fs Multiple submitters Hereditary hyperinsulinism
p.Ala286fs Multiple submitters type 2 diabetes mellitus
p.Arg1182Gln Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Arg1182Trp Multiple submitters diabetes mellitus, transient neonatal, 2
p.Arg1214Gln Multiple submitters Hereditary hyperinsulinism
p.Arg1352Pro Multiple submitters diabetes mellitus, permanent neonatal 3
p.Arg1379Cys Multiple submitters monogenic diabetes
p.Arg1379His Multiple submitters monogenic diabetes
p.Arg1379Leu Multiple submitters neonatal diabetes mellitus
p.Arg1393Cys Multiple submitters hypoglycemia, leucine-induced ⚠
p.Arg1393Leu Multiple submitters Hereditary hyperinsulinism
p.Arg1418Cys Multiple submitters Hereditary hyperinsulinism
p.Arg1418His Multiple submitters Hereditary hyperinsulinism
p.Arg1420Cys Multiple submitters diabetes mellitus, permanent neonatal 3 ⚠
p.Arg1436Ter Multiple submitters diabetes mellitus, permanent neonatal 3
p.Arg1493Gln Multiple submitters Hereditary hyperinsulinism
p.Arg1538Gln Multiple submitters ABCC8-related disorder
p.Arg1538Ter Multiple submitters type 2 diabetes mellitus
p.Arg168Cys Multiple submitters Hereditary hyperinsulinism
p.Arg526Cys Multiple submitters Hereditary hyperinsulinism
p.Arg74Gln Multiple submitters type 2 diabetes mellitus
p.Arg74Trp Multiple submitters familial hyperinsulinism
p.Arg836Ter Multiple submitters diabetes mellitus, transient neonatal, 2
p.Arg933Ter Multiple submitters diabetes mellitus, transient neonatal, 2
p.Asn188Ser Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Cys1000Ter Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Gln166Ter Multiple submitters diabetes mellitus, permanent neonatal 3
p.Gln19fs Multiple submitters type 2 diabetes mellitus
p.Gln273fs Multiple submitters Hereditary hyperinsulinism
p.Gln273Ter Multiple submitters familial hyperinsulinism
p.Gln444His Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Gln833Ter Multiple submitters type 2 diabetes mellitus
p.Gln953Ter Multiple submitters diabetes mellitus, transient neonatal, 2
p.Glu128Lys Multiple submitters type 2 diabetes mellitus ⚠
p.Glu501Lys Multiple submitters ABCC8-related disorder
p.Glu654Ter Multiple submitters Hereditary hyperinsulinism
p.Glu746Ter Multiple submitters type 2 diabetes mellitus
p.Glu9Ter Multiple submitters hypoglycemia, leucine-induced
p.Gly111Arg Multiple submitters diabetes mellitus, transient neonatal, 2
p.Gly1255Ser Multiple submitters Hereditary hyperinsulinism
p.Gly1378Arg Multiple submitters Hereditary hyperinsulinism
p.Gly1378Ser Multiple submitters Hereditary hyperinsulinism
p.Gly1400Arg Multiple submitters diabetes mellitus, permanent neonatal 3
p.Gly1433Ser Multiple submitters type 2 diabetes mellitus
p.Gly1554Asp Multiple submitters Hereditary hyperinsulinism
p.Gly1554Val Multiple submitters hypoglycemia, leucine-induced
p.Gly228Asp Multiple submitters Hereditary hyperinsulinism
p.Ile550fs Multiple submitters Hereditary hyperinsulinism
p.Leu1430fs Multiple submitters familial hyperinsulinism
p.Leu1459Arg Multiple submitters Hereditary hyperinsulinism
p.Leu1543Pro Multiple submitters diabetes mellitus, transient neonatal, 2
p.Leu178_Tyr179insTer Multiple submitters Hereditary hyperinsulinism
p.Leu225Pro Multiple submitters neonatal diabetes mellitus
p.Met1Val Multiple submitters diabetes mellitus, transient neonatal, 2
p.Phe132Leu Multiple submitters neonatal diabetes mellitus ⚠
p.Pro1198Leu Multiple submitters neonatal diabetes mellitus
p.Pro1413Leu Multiple submitters type 2 diabetes mellitus
p.Ser1276fs Multiple submitters type 2 diabetes mellitus
p.Ser165Ter Multiple submitters type 2 diabetes mellitus
p.Ser669fs Multiple submitters hypoglycemia, leucine-induced
p.Ser752fs Multiple submitters Hereditary hyperinsulinism
p.Thr1042fs Multiple submitters diabetes mellitus, transient neonatal, 2
p.Thr1515Met Multiple submitters maturity-onset diabetes of the young, type 12
p.Trp231Ter Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Trp232Ter Multiple submitters type 2 diabetes mellitus
p.Trp430Ter Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Tyr15Ter Multiple submitters ABCC8-related disorder
p.Tyr638Ter Multiple submitters type 2 diabetes mellitus
p.Val187Asp Multiple submitters diabetes mellitus, permanent neonatal 3
p.Val21Asp Multiple submitters Hereditary hyperinsulinism
p.Val21fs Multiple submitters Hereditary hyperinsulinism

Likely pathogenic 209

c.148+2T>G Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
c.2291+1G>A Multiple submitters hypoglycemia, leucine-induced
c.2475+1G>A Multiple submitters
c.2475+2T>A Multiple submitters Hereditary hyperinsulinism
c.3162+2T>A Multiple submitters type 2 diabetes mellitus
c.3651-1G>C Multiple submitters type 2 diabetes mellitus
c.3867+1G>A Multiple submitters hypoglycemia, leucine-induced
c.4545+1G>C Multiple submitters Hereditary hyperinsulinism
c.822+2T>C Multiple submitters type 2 diabetes mellitus
p.Arg841Gly Multiple submitters familial hyperinsulinism
p.Asp310Asn Multiple submitters Hereditary hyperinsulinism
p.Glu1516Gly Multiple submitters familial hyperinsulinism
p.Gly1383Arg Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Gly716Ser Multiple submitters maturity-onset diabetes of the young
p.Gly7Arg Multiple submitters ABCC8-related disorder ⚠
p.Gly911Arg Multiple submitters Hereditary hyperinsulinism
p.Met1394Arg Multiple submitters type 2 diabetes mellitus
p.Ser1385Pro Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
p.Val607Met Multiple submitters maturity-onset diabetes of the young ⚠
c.1011+1G>A Single submitter
c.1177-1G>C Single submitter
c.1468-2A>G Single submitter hypoglycemia, leucine-induced
c.149-2A>T Single submitter type 2 diabetes mellitus
c.1817+1G>A Single submitter type 2 diabetes mellitus
c.1818-1_1822delinsCAA Single submitter Hereditary hyperinsulinism
c.1818-1G>A Single submitter
c.1818-2A>C Single submitter
c.1924-1G>C Single submitter
c.1924-2A>G Single submitter
c.2040+1G>A Single submitter type 2 diabetes mellitus
c.2116+3A>G Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.2256-1G>A Single submitter type 2 diabetes mellitus
c.2256-1G>T Single submitter
c.2390+1G>A Single submitter
c.2556_2556+15delinsCCTGGGGTCCTTGT Single submitter type 2 diabetes mellitus
c.2557-2A>G Single submitter type 2 diabetes mellitus
c.2820+2T>C Single submitter Hereditary hyperinsulinism
c.290+1G>A Single submitter
c.290+2del Single submitter type 2 diabetes mellitus
c.2921-10C>A Single submitter
c.3162+1G>A Single submitter hypoglycemia, leucine-induced
c.3163-1_3163insGTGAT Single submitter Hereditary hyperinsulinism
c.3329+1G>A Single submitter type 2 diabetes mellitus
c.3330-1G>C Single submitter type 2 diabetes mellitus
c.3330-2A>G Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.3399+2T>C Single submitter
c.3650+1G>T Single submitter
c.3753+1G>T Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.4119+1G>C Single submitter type 2 diabetes mellitus
c.4411+2T>C Single submitter
c.4412-2A>C Single submitter type 2 diabetes mellitus
c.4545+2T>C Single submitter type 2 diabetes mellitus
c.4546-1G>A Single submitter
c.579+1G>A Single submitter
c.579+2T>C Single submitter
c.580-1G>C Single submitter hypoglycemia, leucine-induced
c.580-2A>G Single submitter familial hyperinsulinism
c.580-2A>T Single submitter type 2 diabetes mellitus
p.Ala1152fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala1184Glu Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala1262Pro Single submitter
p.Ala1390Pro Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala146fs Single submitter hypoglycemia, leucine-induced
p.Ala161delinsArgCysValTer Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala390Glu Single submitter Hereditary hyperinsulinism
p.Ala478Asp Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala736fs Single submitter Hereditary hyperinsulinism
p.Ala804fs Single submitter Hereditary hyperinsulinism
p.Arg1182Leu Single submitter ⚠
p.Arg1245Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Arg1393Gly Single submitter
p.Arg1420Ser Single submitter
p.Arg1493Leu Single submitter
p.Arg1493Pro Single submitter
p.Arg168Pro Single submitter ⚠
p.Arg194Ter Single submitter type 2 diabetes mellitus
p.Arg258fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Arg285fs Single submitter Hereditary hyperinsulinism
p.Arg306His Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Arg598Gln Single submitter atrial septal defect ⚠
p.Arg620fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Arg650fs Single submitter Hereditary hyperinsulinism
p.Arg836Gln Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Asn1269fs Single submitter type 2 diabetes mellitus
p.Asn1517fs Single submitter type 2 diabetes mellitus
p.Asn23His Single submitter ⚠
p.Asn32Ser Single submitter ⚠
p.Asn331fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Asn698del Single submitter diabetes mellitus, permanent neonatal 3
p.Asp1132Asn Single submitter familial hyperinsulinism
p.Asp1408fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Asp1505Asn Single submitter
p.Asp209Asn Single submitter
p.Asp212Tyr Single submitter neonatal diabetes mellitus
p.Asp691fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Cys1078fs Single submitter type 2 diabetes mellitus
p.Cys1149Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Cys435Tyr Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Gln1133His Single submitter hypoglycemia, leucine-induced ⚠
p.Gln1307fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gln1307Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gln392= Single submitter Hereditary hyperinsulinism
p.Gln483Ter Single submitter Hereditary hyperinsulinism
p.Gln707fs Single submitter Hereditary hyperinsulinism
p.Gln714Ter Single submitter type 2 diabetes mellitus
p.Gln796fs Single submitter type 2 diabetes mellitus
p.Gln833Arg Single submitter diabetes mellitus, transient neonatal, 2
p.Glu1321Ter Single submitter
p.Glu1323Lys Single submitter
p.Glu1506_Asp1512dup Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Glu1506Gln Single submitter
p.Glu208Lys Single submitter ⚠
p.Glu501Ala Single submitter
p.Glu749fs Single submitter hypoglycemia, leucine-induced
p.Glu920fs Single submitter type 2 diabetes mellitus
p.Glu972Ter Single submitter Hereditary hyperinsulinism
p.Glu973Ter Single submitter hypoglycemia, leucine-induced
p.Gly1089fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly1118fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly111Glu Single submitter
p.Gly1281fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly1433Asp Single submitter
p.Gly1477Arg Single submitter
p.Gly1478Glu Single submitter Hereditary hyperinsulinism
p.Gly1484Val Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly251fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly658fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly684Asp Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Gly70Glu Single submitter Hereditary hyperinsulinism
p.Gly716Asp Single submitter
p.Gly735Glu Single submitter
p.Gly7Cys Single submitter
p.Gly831fs Single submitter hypoglycemia, leucine-induced
p.Gly92Asp Single submitter
p.His1537Arg Single submitter neonatal diabetes mellitus
p.His888fs Single submitter hypoglycemia, leucine-induced
p.Ile1314fs Single submitter type 2 diabetes mellitus
p.Ile323fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ile46fs Single submitter type 2 diabetes mellitus
p.Ile49Phe Single submitter neonatal diabetes mellitus ⚠
p.Ile89fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Leu1090fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Leu1101fs Single submitter type 2 diabetes mellitus
p.Leu1282fs Single submitter Hereditary hyperinsulinism
p.Leu1294fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Leu1459Pro Single submitter
p.Leu213fs Single submitter Hereditary hyperinsulinism
p.Leu247Ter Single submitter Hereditary hyperinsulinism
p.Leu358Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Leu533Pro Single submitter
p.Leu604_Val605insTer Single submitter type 2 diabetes mellitus
p.Leu885Ter Single submitter type 2 diabetes mellitus
p.Lys1022fs Single submitter hypoglycemia, leucine-induced
p.Lys1225fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Lys227_Thr229delinsSerTer Single submitter Hereditary hyperinsulinism
p.Lys329fs Single submitter type 2 diabetes mellitus
p.Lys528fs Single submitter Hereditary hyperinsulinism
p.Lys649Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Met1513Ile Single submitter ⚠
p.Met1513Thr Single submitter ABCC8-related disorder ⚠
p.Met1fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Met233fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Met931fs Single submitter type 2 diabetes mellitus
p.Phe1112fs Single submitter type 2 diabetes mellitus
p.Phe1216fs Single submitter Hereditary hyperinsulinism
p.Phe1392Ile Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Phe236fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Phe27Ser Single submitter
p.Phe41Ser Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Phe536Leu Single submitter neonatal diabetes mellitus ⚠
p.Phe559fs Single submitter Hereditary hyperinsulinism
p.Phe577fs Single submitter hypoglycemia, leucine-induced
p.Phe686Ile Single submitter
p.Pro109fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Pro1331fs Single submitter type 2 diabetes mellitus
p.Pro133Arg Single submitter
p.Pro634fs Single submitter hypoglycemia, leucine-induced
p.Pro69fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ser1151Ter Single submitter type 2 diabetes mellitus
p.Ser1201Ter Single submitter Hereditary hyperinsulinism
p.Ser1332Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ser1382Arg Single submitter Hereditary hyperinsulinism
p.Ser1422Thr Single submitter neonatal diabetes mellitus ⚠
p.Ser347Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ser541fs Single submitter Hereditary hyperinsulinism
p.Ser773Ter Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Thr1320fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Thr229Ala Single submitter ⚠
p.Thr404fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Thr887Asn Single submitter
p.Trp1032_Leu1033delinsTer Single submitter hypoglycemia, leucine-induced
p.Trp1087Ter Single submitter hypoglycemia, leucine-induced
p.Trp1246Leu Single submitter
p.Trp898fs Single submitter Hereditary hyperinsulinism
p.Tyr1003fs Single submitter type 2 diabetes mellitus
p.Tyr1003Ter Single submitter hypoglycemia, leucine-induced
p.Tyr1325Ter Single submitter Hereditary hyperinsulinism
p.Tyr195Ter Single submitter type 2 diabetes mellitus
p.Tyr892Ter Single submitter type 2 diabetes mellitus
p.Val1150fs Single submitter Hereditary hyperinsulinism
p.Val1462fs Single submitter hypoglycemia, leucine-induced
p.Val1522fs Single submitter hypoglycemia, leucine-induced
p.Val215Ile Single submitter neonatal diabetes mellitus ⚠
p.Val21Phe Single submitter ⚠
p.Val769fs Single submitter type 2 diabetes mellitus
c.1468-2A>C No assertion criteria hyperinsulinemic hypoglycemia, familial, 1
p.Leu1043fs No assertion criteria hyperinsulinemic hypoglycemia, familial, 1
p.Leu139fs No assertion criteria hyperinsulinemic hypoglycemia, familial, 1
p.Tyr512Ter No assertion criteria hyperinsulinemic hypoglycemia, familial, 1

Conflicting classifications of pathogenicity 352

Showing the top 300 by review status; the full set is in the sitemap.

c.1011+17del Single submitter hypoglycemia, leucine-induced
c.1012-6C>T Single submitter transient neonatal diabetes mellitus
c.1177-1G>A Single submitter maturity-onset diabetes of the young
c.1177-56G>A Single submitter transient neonatal diabetes mellitus
c.1332+17G>C Single submitter transient neonatal diabetes mellitus
c.1332+9T>C Single submitter
c.1467+9C>T Single submitter maturity-onset diabetes of the young
c.1468-14G>A Single submitter hypoglycemia, leucine-induced
c.148+2T>C Single submitter maturity-onset diabetes of the young
c.149-1G>A Single submitter maturity-onset diabetes of the young
c.1630+10C>T Single submitter transient neonatal diabetes mellitus
c.1630+8C>T Single submitter transient neonatal diabetes mellitus
c.1671+1G>C Single submitter maturity-onset diabetes of the young
c.1672-13C>A Single submitter
c.1672-20A>G Single submitter Hereditary hyperinsulinism
c.1672-20A>T Single submitter
c.1818-6G>A Single submitter maturity-onset diabetes of the young
c.1818-7C>T Single submitter transient neonatal diabetes mellitus
c.1818-7del Single submitter transient neonatal diabetes mellitus
c.1923+10C>T Single submitter maturity-onset diabetes of the young
c.1924-10C>T Single submitter transient neonatal diabetes mellitus
c.1924-18C>A Single submitter hypoglycemia, leucine-induced
c.1924-9C>T Single submitter transient neonatal diabetes mellitus
c.2041-12C>A Single submitter maturity-onset diabetes of the young
c.2041-12C>T Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.2117-12C>A Single submitter transient neonatal diabetes mellitus
c.2222+12A>G Single submitter maturity-onset diabetes of the young
c.2222+15C>A Single submitter Hereditary hyperinsulinism
c.2222+1G>A Single submitter maturity-onset diabetes of the young
c.2223-16A>G Single submitter
c.2255+2T>C Single submitter maturity-onset diabetes of the young
c.2256-16del Single submitter transient neonatal diabetes mellitus
c.2256-3C>T Single submitter transient neonatal diabetes mellitus
c.2256-50T>C Single submitter transient neonatal diabetes mellitus
c.2256-9C>T Single submitter transient neonatal diabetes mellitus
c.2291+7C>T Single submitter maturity-onset diabetes of the young
c.2291+8G>A Single submitter transient neonatal diabetes mellitus
c.2292-1G>A Single submitter Hereditary hyperinsulinism
c.2390+123C>T Single submitter diabetes mellitus, permanent neonatal 3
c.2390+219T>C Single submitter diabetes mellitus, permanent neonatal 3
c.2390+93C>T Single submitter transient neonatal diabetes mellitus
c.2391-5G>A Single submitter maturity-onset diabetes of the young
c.2391-6C>T Single submitter transient neonatal diabetes mellitus
c.2556+1G>T Single submitter maturity-onset diabetes of the young
c.2556+22G>A Single submitter transient neonatal diabetes mellitus
c.2694+15G>A Single submitter transient neonatal diabetes mellitus
c.2694+9del Single submitter transient neonatal diabetes mellitus
c.2695-1G>C Single submitter maturity-onset diabetes of the young
c.2820+17A>G Single submitter diabetes mellitus, permanent neonatal 3
c.290+2T>C Single submitter type 2 diabetes mellitus
c.291-2A>G Single submitter Hereditary hyperinsulinism
c.291-3C>T Single submitter transient neonatal diabetes mellitus
c.291-5C>T Single submitter hypoglycemia, leucine-induced
c.291-8C>T Single submitter maturity-onset diabetes of the young
c.2921-1G>A Single submitter neonatal diabetes mellitus
c.3329+7G>A Single submitter maturity-onset diabetes of the young
c.3399+12C>T Single submitter maturity-onset diabetes of the young
c.3399+13G>A Single submitter permanent neonatal diabetes mellitus
c.3399+1G>A Single submitter maturity-onset diabetes of the young
c.3557+1G>T Single submitter Hereditary hyperinsulinism
c.3557+20G>C Single submitter transient neonatal diabetes mellitus
c.3558-7G>A Single submitter
c.3558-7G>T Single submitter maturity-onset diabetes of the young
c.3558-8C>T Single submitter transient neonatal diabetes mellitus
c.3650+4C>G Single submitter diabetes mellitus, transient neonatal, 2
c.3650+9C>A Single submitter transient neonatal diabetes mellitus
c.3651-4C>G Single submitter maturity-onset diabetes of the young
c.3753+10A>G Single submitter maturity-onset diabetes of the young
c.3753+1G>A Single submitter transient neonatal diabetes mellitus
c.3753+2C>T Single submitter Hereditary hyperinsulinism
c.3754-1G>A Single submitter maturity-onset diabetes of the young
c.3754-6C>T Single submitter transient neonatal diabetes mellitus
c.3867+7G>A Single submitter diabetes mellitus, transient neonatal, 2
c.3868-5C>T Single submitter maturity-onset diabetes of the young
c.3988+19G>C Single submitter diabetes mellitus, transient neonatal, 2
c.3988+9C>G Single submitter hypoglycemia, leucine-induced
c.3989-10C>T Single submitter transient neonatal diabetes mellitus
c.3989-3C>G Single submitter transient neonatal diabetes mellitus
c.4119+10C>T Single submitter maturity-onset diabetes of the young
c.4119+15C>T Single submitter transient neonatal diabetes mellitus
c.4119+18A>G Single submitter maturity-onset diabetes of the young
c.4119+1del Single submitter transient neonatal diabetes mellitus
c.4119+93G>T Single submitter transient neonatal diabetes mellitus
c.4120-19C>T Single submitter diabetes mellitus, permanent neonatal 3
c.4120-27T>C Single submitter diabetes mellitus, permanent neonatal 3
c.413-15A>G Single submitter transient neonatal diabetes mellitus
c.413-2A>G Single submitter Hereditary hyperinsulinism
c.413-5G>A Single submitter Inborn genetic diseases
c.4198+18C>T Single submitter transient neonatal diabetes mellitus
c.4199-2A>G Single submitter maturity-onset diabetes of the young
c.4199-6A>G Single submitter transient neonatal diabetes mellitus
c.4199-8C>T Single submitter transient neonatal diabetes mellitus
c.4307+13A>G Single submitter maturity-onset diabetes of the young
c.4307+9del Single submitter transient neonatal diabetes mellitus
c.4412-14C>T Single submitter diabetes mellitus, permanent neonatal 3
c.4412-2A>G Single submitter transient neonatal diabetes mellitus
c.4412-4T>G Single submitter maturity-onset diabetes of the young
c.4545+13C>T Single submitter transient neonatal diabetes mellitus
c.4545+2T>G Single submitter transient neonatal diabetes mellitus
c.4545+9T>C Single submitter diabetes mellitus, transient neonatal, 2
c.4546-4G>A Single submitter transient neonatal diabetes mellitus
c.4546-8C>T Single submitter transient neonatal diabetes mellitus
c.4608+10C>T Single submitter transient neonatal diabetes mellitus
c.579+14C>T Single submitter diabetes mellitus, permanent neonatal 3
c.579+2T>A Single submitter maturity-onset diabetes of the young
c.579+9G>A Single submitter transient neonatal diabetes mellitus
c.580-7C>A Single submitter transient neonatal diabetes mellitus
c.822+20C>T Single submitter transient neonatal diabetes mellitus
c.822+9G>A Single submitter transient neonatal diabetes mellitus
c.823-8C>T Single submitter transient neonatal diabetes mellitus
c.-19A>G Single submitter diabetes mellitus, transient neonatal, 2
c.-49G>C Single submitter transient neonatal diabetes mellitus
c.-544G>A Single submitter transient neonatal diabetes mellitus
c.-8G>T Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.Ala1028fs Single submitter transient neonatal diabetes mellitus
p.Ala113Val Single submitter Hereditary hyperinsulinism ⚠
p.Ala1152Thr Single submitter maturity-onset diabetes of the young ⚠
p.Ala1154= Single submitter Inborn genetic diseases
p.Ala1184= Single submitter transient neonatal diabetes mellitus
p.Ala1184Val Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ala1262Thr Single submitter Hereditary hyperinsulinism ⚠
p.Ala1263Val Single submitter neonatal diabetes mellitus ⚠
p.Ala1369Thr Single submitter hypoglycemia, leucine-induced ⚠
p.Ala138= Single submitter transient neonatal diabetes mellitus
p.Ala1472Thr Single submitter type 2 diabetes mellitus ⚠
p.Ala1494= Single submitter Inborn genetic diseases
p.Ala1536= Single submitter type 2 diabetes mellitus
p.Ala315= Single submitter transient neonatal diabetes mellitus
p.Ala355Thr Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Ala365= Single submitter transient neonatal diabetes mellitus
p.Ala4Val Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ala513Thr Single submitter transient neonatal diabetes mellitus ⚠
p.Ala535= Single submitter transient neonatal diabetes mellitus
p.Ala569= Single submitter diabetes mellitus, permanent neonatal 3
p.Ala578_Leu582dup Single submitter transient neonatal diabetes mellitus
p.Ala625Val Single submitter monogenic diabetes ⚠
p.Ala640= Single submitter Inborn genetic diseases
p.Ala674= Single submitter transient neonatal diabetes mellitus
p.Ala726Thr Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Ala870= Single submitter transient neonatal diabetes mellitus
p.Ala977Thr Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Arg1352His Single submitter diabetes mellitus, permanent neonatal 3 ⚠
p.Arg1393His Single submitter Hereditary hyperinsulinism ⚠
p.Arg1420His Single submitter type 2 diabetes mellitus ⚠
p.Arg1493fs Single submitter transient neonatal diabetes mellitus
p.Arg1568Gln Single submitter transient neonatal diabetes mellitus ⚠
p.Arg1578His Single submitter diabetes mellitus, permanent neonatal 3 ⚠
p.Arg275Gln Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Arg285Gln Single submitter pulmonary arterial hypertension ⚠
p.Arg306Cys Single submitter Hereditary hyperinsulinism ⚠
p.Arg306Leu Single submitter ABCC8-related disorder ⚠
p.Arg495Gln Single submitter Hereditary hyperinsulinism ⚠
p.Arg519Cys Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Arg526His Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Arg526Leu Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Arg653Gln Single submitter permanent neonatal diabetes mellitus ⚠
p.Arg657Trp Single submitter Inborn genetic diseases ⚠
p.Arg755Gln Single submitter Inborn genetic diseases ⚠
p.Arg834Cys Single submitter transient neonatal diabetes mellitus ⚠
p.Arg841Gln Single submitter maturity-onset diabetes of the young ⚠
p.Asn1292fs Single submitter transient neonatal diabetes mellitus
p.Asn131= Single submitter Inborn genetic diseases
p.Asn1365= Single submitter transient neonatal diabetes mellitus
p.Asn1438= Single submitter Inborn genetic diseases
p.Asn1480Asp Single submitter maturity-onset diabetes of the young ⚠
p.Asn331= Single submitter transient neonatal diabetes mellitus
p.Asn386= Single submitter transient neonatal diabetes mellitus
p.Asn397His Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Asn516= Single submitter transient neonatal diabetes mellitus
p.Asn698= Single submitter maturity-onset diabetes of the young
p.Asn72Ser Single submitter type 2 diabetes mellitus ⚠
p.Asn848= Single submitter maturity-onset diabetes of the young
p.Asp1038Asn Single submitter transient neonatal diabetes mellitus ⚠
p.Asp1127fs Single submitter transient neonatal diabetes mellitus
p.Asp1193Val Single submitter diabetes mellitus, permanent neonatal 3 ⚠
p.Asp1354= Single submitter transient neonatal diabetes mellitus
p.Asp1427fs Single submitter transient neonatal diabetes mellitus
p.Asp1447fs Single submitter maturity-onset diabetes of the young
p.Asp271= Single submitter maturity-onset diabetes of the young
p.Asp760fs Single submitter transient neonatal diabetes mellitus
p.Asp812Asn Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Asp853Asn Single submitter transient neonatal diabetes mellitus ⚠
p.Asp879Asn Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Asp897Tyr Single submitter hypoglycemia, leucine-induced ⚠
p.Asp963Gly Single submitter hypoglycemia, leucine-induced ⚠
p.Cys1000= Single submitter Inborn genetic diseases
p.Cys170= Single submitter maturity-onset diabetes of the young
p.Cys26Ser Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Cys418Arg Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Gln1341Ter Single submitter maturity-onset diabetes of the young
p.Gln1372= Single submitter Inborn genetic diseases
p.Gln474Arg Single submitter ABCC8-related disorder ⚠
p.Gln808Lys Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Gln917= Single submitter diabetes mellitus, transient neonatal, 2
p.Gln922Ter Single submitter maturity-onset diabetes of the young
p.Gln991Ter Single submitter maturity-onset diabetes of the young
p.Glu100Lys Single submitter hypoglycemia, leucine-induced ⚠
p.Glu1113= Single submitter transient neonatal diabetes mellitus
p.Glu1326Lys Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Glu1442Val Single submitter maturity-onset diabetes of the young ⚠
p.Glu568= Single submitter Inborn genetic diseases
p.Gly1484Arg Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Gly1484Glu Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Gly163Ser Single submitter ABCC8-related disorder ⚠
p.Gly316Arg Single submitter Hereditary hyperinsulinism ⚠
p.Gly342Trp Single submitter transient neonatal diabetes mellitus ⚠
p.Gly415Arg Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Gly70Arg Single submitter ABCC8-related disorder ⚠
p.Gly7Asp Single submitter ⚠
p.His105Tyr Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.His1097Pro Single submitter Inborn genetic diseases ⚠
p.His125Gln Single submitter monogenic diabetes ⚠
p.His1363= Single submitter transient neonatal diabetes mellitus
p.His241= Single submitter transient neonatal diabetes mellitus
p.His36= Single submitter Inborn genetic diseases
p.His562= Single submitter diabetes mellitus, permanent neonatal 3
p.His584fs Single submitter hyperinsulinemic hypoglycemia, familial, 1
p.His846= Single submitter transient neonatal diabetes mellitus
p.Ile1029= Single submitter maturity-onset diabetes of the young
p.Ile1075Thr Single submitter transient neonatal diabetes mellitus ⚠
p.Ile1368= Single submitter diabetes mellitus, transient neonatal, 2
p.Ile1403Val Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Ile1409= Single submitter Inborn genetic diseases
p.Ile1409Val Single submitter ⚠
p.Ile1456= Single submitter maturity-onset diabetes of the young
p.Ile1518Ser Single submitter transient neonatal diabetes mellitus ⚠
p.Ile1535= Single submitter transient neonatal diabetes mellitus
p.Ile1549= Single submitter Inborn genetic diseases
p.Ile245= Single submitter maturity-onset diabetes of the young
p.Ile395Phe Single submitter Hereditary hyperinsulinism ⚠
p.Ile423= Single submitter maturity-onset diabetes of the young
p.Ile462Val Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ile49Val Single submitter diabetes mellitus, permanent neonatal 3 ⚠
p.Leu1043= Single submitter transient neonatal diabetes mellitus
p.Leu1058= Single submitter transient neonatal diabetes mellitus
p.Leu1147= Single submitter transient neonatal diabetes mellitus
p.Leu1147Arg Single submitter Hereditary hyperinsulinism ⚠
p.Leu1191= Single submitter transient neonatal diabetes mellitus
p.Leu1227= Single submitter maturity-onset diabetes of the young
p.Leu1317= Single submitter transient neonatal diabetes mellitus
p.Leu135= Single submitter transient neonatal diabetes mellitus
p.Leu1430Phe Single submitter hypoglycemia, leucine-induced ⚠
p.Leu1450Pro Single submitter maturity-onset diabetes of the young ⚠
p.Leu1454= Single submitter maturity-onset diabetes of the young
p.Leu1470= Single submitter maturity-onset diabetes of the young
p.Leu171= Single submitter transient neonatal diabetes mellitus
p.Leu182= Single submitter transient neonatal diabetes mellitus
p.Leu184= Single submitter transient neonatal diabetes mellitus
p.Leu213= Single submitter maturity-onset diabetes of the young
p.Leu40Arg Single submitter transient neonatal diabetes mellitus ⚠
p.Leu469= Single submitter transient neonatal diabetes mellitus
p.Leu496= Single submitter transient neonatal diabetes mellitus
p.Leu503Pro Single submitter maturity-onset diabetes of the young ⚠
p.Leu556= Single submitter transient neonatal diabetes mellitus
p.Leu666= Single submitter maturity-onset diabetes of the young
p.Leu723= Single submitter transient neonatal diabetes mellitus
p.Leu724del Single submitter Hereditary hyperinsulinism
p.Leu724Pro Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Leu727Arg Single submitter transient neonatal diabetes mellitus ⚠
p.Leu85= Single submitter diabetes mellitus, transient neonatal, 2
p.Lys1336Asn Single submitter permanent neonatal diabetes mellitus ⚠
p.Lys1384fs Single submitter transient neonatal diabetes mellitus
p.Lys1521Asn Single submitter transient neonatal diabetes mellitus ⚠
p.Lys1552= Single submitter transient neonatal diabetes mellitus
p.Lys1564Glu Single submitter permanent neonatal diabetes mellitus ⚠
p.Lys242fs Single submitter transient neonatal diabetes mellitus
p.Lys329= Single submitter maturity-onset diabetes of the young
p.Lys649= Single submitter diabetes mellitus, permanent neonatal 3
p.Lys889Thr Single submitter monogenic diabetes ⚠
p.Lys903= Single submitter transient neonatal diabetes mellitus
p.Met115Val Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Met80Arg Single submitter diabetes mellitus, transient neonatal, 2 ⚠
p.Phe1181Cys Single submitter transient neonatal diabetes mellitus ⚠
p.Phe1398= Single submitter transient neonatal diabetes mellitus
p.Phe1495= Single submitter transient neonatal diabetes mellitus
p.Phe1527= Single submitter maturity-onset diabetes of the young
p.Phe169= Single submitter permanent neonatal diabetes mellitus
p.Phe314= Single submitter transient neonatal diabetes mellitus
p.Phe334= Single submitter transient neonatal diabetes mellitus
p.Phe432= Single submitter transient neonatal diabetes mellitus
p.Phe591Leu Single submitter ⚠
p.Pro1116Ala Single submitter transient neonatal diabetes mellitus ⚠
p.Pro1359= Single submitter maturity-onset diabetes of the young
p.Pro1359Leu Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Pro1370Leu Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Pro1413= Single submitter permanent neonatal diabetes mellitus
p.Pro201Leu Single submitter hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Pro317= Single submitter transient neonatal diabetes mellitus
p.Pro472= Single submitter transient neonatal diabetes mellitus
p.Pro589= Single submitter Inborn genetic diseases
p.Pro642= Single submitter
p.Pro69= Single submitter diabetes mellitus, permanent neonatal 3
p.Pro753= Single submitter maturity-onset diabetes of the young
p.Pro809= Single submitter transient neonatal diabetes mellitus
p.Ser1006= Single submitter transient neonatal diabetes mellitus
p.Ser1145= Single submitter transient neonatal diabetes mellitus
p.Ser1332= Single submitter transient neonatal diabetes mellitus
p.Ser1386del Single submitter transient neonatal diabetes mellitus
p.Ser1422Cys Single submitter maturity-onset diabetes of the young ⚠
p.Ser1432= Single submitter maturity-onset diabetes of the young

Benign 79

c.1011+223C>T Multiple submitters
c.1011+87A>G Multiple submitters
c.1332+28G>A Multiple submitters
c.1468-105A>G Multiple submitters
c.148+119C>T Multiple submitters
c.1672-74G>A Multiple submitters
c.1672-97A>C Multiple submitters
c.1817+267C>A Multiple submitters
c.2116+145G>T Multiple submitters
c.2117-3C>T Multiple submitters type 2 diabetes mellitus
c.2256-65G>A Multiple submitters
c.2292-114C>T Multiple submitters
c.2292-34T>C Multiple submitters
c.2292-36C>T Multiple submitters
c.2820+67C>T Multiple submitters
c.291-62G>T Multiple submitters
c.2921-19G>A Multiple submitters
c.3329+268G>C Multiple submitters
c.3329+307C>T Multiple submitters
c.3330-226C>G Multiple submitters
c.3330-253G>A Multiple submitters
c.3558-95C>T Multiple submitters
c.3867+157C>T Multiple submitters
c.412+77G>A Multiple submitters
c.4198+62G>A Multiple submitters
c.4412-179C>T Multiple submitters
c.4608+101T>G Multiple submitters
c.4608+54G>C Multiple submitters diabetes mellitus, permanent neonatal 3
c.4609-40A>G Multiple submitters diabetes mellitus, permanent neonatal 3
c.4609-82G>A Multiple submitters
c.822+92G>A Multiple submitters
p.Ala1369Ser Multiple submitters diabetes mellitus, permanent neonatal 3
p.Arg1273= Multiple submitters diabetes mellitus, permanent neonatal 3
c.1012-147T>G Single submitter
c.1012-317A>G Single submitter
c.1332+309G>A Single submitter
c.1333-1186T>G Single submitter
c.1333-1265A>G Single submitter
c.1333-328G>A Single submitter
c.1333-828C>A Single submitter
c.148+308A>T Single submitter
c.149-156T>C Single submitter
c.1671+308G>A Single submitter
c.1817+266del Single submitter
c.2117-261G>A Single submitter
c.2117-301T>C Single submitter
c.2291+225TTTTCTT[3] Single submitter
c.2291+283T>A Single submitter
c.2291+284dup Single submitter
c.2391-189C>T Single submitter
c.2556+192del Single submitter
c.2694+19del Single submitter
c.2695-252C>A Single submitter
c.291-142C>T Single submitter
c.291-243C>A Single submitter
c.3162+11C>T Single submitter
c.3557+118_3557+121del Single submitter
c.3558-233T>A Single submitter
c.3651-229A>G Single submitter
c.3753+269C>A Single submitter
c.3754-156C>T Single submitter
c.4119+254C>G Single submitter
c.412+208G>A Single submitter
c.412+239G>A Single submitter
c.412+262T>A Single submitter
c.412+312A>C Single submitter
c.413-318G>A Single submitter
c.4412-14del Single submitter
c.4608+8del Single submitter
c.4609-103del Single submitter
c.4609-16del Single submitter
c.579+204G>C Single submitter
c.579+254G>A Single submitter
c.580-314T>C Single submitter
c.823-105A>G Single submitter
c.823-106C>T Single submitter
c.823-107C>A Single submitter
p.Ile1131= Single submitter
p.Leu1306= Single submitter

Benign/Likely benign 14

c.1924-17C>T Multiple submitters Inborn genetic diseases
c.2390+17G>C Multiple submitters diabetes mellitus, transient neonatal, 2
c.2391-17G>T Multiple submitters hypoglycemia, leucine-induced
c.2695-20G>A Multiple submitters
c.3329+6C>T Multiple submitters transient neonatal diabetes mellitus
c.823-49G>A Multiple submitters
c.-72G>A Multiple submitters maturity-onset diabetes of the young
p.Ala110= Multiple submitters Inborn genetic diseases
p.Ala1514= Multiple submitters Inborn genetic diseases
p.Arg620Cys Multiple submitters monogenic diabetes
p.Phe1576= Multiple submitters Inborn genetic diseases
p.Thr1380= Multiple submitters maturity-onset diabetes of the young, type 12
p.Thr759= Multiple submitters Inborn genetic diseases
p.Val560Met Multiple submitters permanent neonatal diabetes mellitus ⚠

Likely benign 1077

Showing the top 300 by review status; the full set is in the sitemap.

c.1012-106G>A Multiple submitters
c.1177-168A>G Multiple submitters
c.1177-53_1177-51del Multiple submitters
c.1332+4del Multiple submitters Inborn genetic diseases
c.1468-15C>G Multiple submitters
c.148+13A>C Multiple submitters hypoglycemia, leucine-induced
c.1671+31G>A Multiple submitters
c.1817+15C>T Multiple submitters
c.1924-13A>G Multiple submitters
c.2040+14C>A Multiple submitters
c.2040+17C>T Multiple submitters
c.2292-16G>A Multiple submitters
c.2390+13C>T Multiple submitters
c.2694+246G>A Multiple submitters
c.2820+169G>A Multiple submitters
c.2820+19G>A Multiple submitters
c.3162+19G>A Multiple submitters
c.3329+11C>T Multiple submitters
c.3399+45C>A Multiple submitters
c.3400-14C>T Multiple submitters
c.3400-18C>T Multiple submitters
c.3557+12del Multiple submitters
c.3650+14T>C Multiple submitters
c.3868-6C>A Multiple submitters
c.4119+19C>T Multiple submitters
c.4120-131A>G Multiple submitters
c.4120-144T>A Multiple submitters
c.413-5G>C Multiple submitters diabetes mellitus, permanent neonatal 3
c.4412-151C>T Multiple submitters
c.4546-12C>T Multiple submitters
c.4609-16C>T Multiple submitters
c.822+7G>A Multiple submitters diabetes mellitus, transient neonatal, 2
c.823-4G>A Multiple submitters
p.Ala1007= Multiple submitters Inborn genetic diseases
p.Ala1152= Multiple submitters
p.Ala1171= Multiple submitters diabetes mellitus, permanent neonatal 3
p.Ala1453= Multiple submitters
p.Ala146= Multiple submitters Inborn genetic diseases
p.Ala309= Multiple submitters Inborn genetic diseases
p.Ala414= Multiple submitters
p.Ala554= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Ala842= Multiple submitters
p.Arg1048= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Arg16= Multiple submitters Inborn genetic diseases
p.Arg265= Multiple submitters hypoglycemia, leucine-induced
p.Arg298= Multiple submitters hypoglycemia, leucine-induced
p.Arg527= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Asn1244= Multiple submitters
p.Asn234= Multiple submitters Inborn genetic diseases
p.Asp1303= Multiple submitters Inborn genetic diseases
p.Asp1505= Multiple submitters Inborn genetic diseases
p.Asp878= Multiple submitters Inborn genetic diseases
p.Cys1056= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Gln427= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Glu1326= Multiple submitters Inborn genetic diseases
p.Glu945= Multiple submitters
p.Glu972= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Gly1255= Multiple submitters hypoglycemia, leucine-induced
p.His160= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Ile255= Multiple submitters type 2 diabetes mellitus
p.Ile323= Multiple submitters
p.Ile585= Multiple submitters
p.Leu1412= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Leu1450= Multiple submitters Inborn genetic diseases
p.Leu247= Multiple submitters Inborn genetic diseases
p.Leu341= Multiple submitters Inborn genetic diseases
p.Leu47= Multiple submitters Inborn genetic diseases
p.Leu742= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Leu829= Multiple submitters
p.Lys1035= Multiple submitters
p.Lys1179= Multiple submitters Inborn genetic diseases
p.Lys1384= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Phe1559= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Pro201= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Pro207= Multiple submitters Inborn genetic diseases
p.Pro220= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Pro694= Multiple submitters Inborn genetic diseases
p.Pro768= Multiple submitters Inborn genetic diseases
p.Ser1005= Multiple submitters Inborn genetic diseases
p.Ser574= Multiple submitters
p.Ser606= Multiple submitters Inborn genetic diseases
p.Ser961= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Thr1138= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Thr1397= Multiple submitters
p.Thr1475= Multiple submitters Inborn genetic diseases
p.Thr499= Multiple submitters Inborn genetic diseases
p.Thr540= Multiple submitters
p.Thr588= Multiple submitters Inborn genetic diseases
p.Thr600= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Tyr1353= Multiple submitters Inborn genetic diseases
p.Tyr356= Multiple submitters Inborn genetic diseases
p.Val1523= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Val575= Multiple submitters
p.Val596= Multiple submitters Inborn genetic diseases
p.Val84= Multiple submitters
c.1011+11C>T Single submitter
c.1011+12C>A Single submitter
c.1011+12C>T Single submitter
c.1011+15G>C Single submitter
c.1011+16G>T Single submitter
c.1011+20G>A Single submitter
c.1012-108A>G Single submitter
c.1012-16C>T Single submitter
c.1012-17A>T Single submitter
c.1012-19G>A Single submitter
c.1012-19G>T Single submitter
c.1012-20T>C Single submitter
c.1176+10T>A Single submitter
c.1176+10T>C Single submitter
c.1176+16T>C Single submitter
c.1176+7G>A Single submitter
c.1176+85C>T Single submitter
c.1176+8G>C Single submitter
c.1177-13C>T Single submitter
c.1177-14G>T Single submitter
c.1177-53_1177-42del Single submitter
c.1177-53G>C Single submitter
c.1177-8A>G Single submitter
c.1332+11G>C Single submitter
c.1332+13C>T Single submitter
c.1332+19G>A Single submitter
c.1332+212C>T Single submitter
c.1332+7G>C Single submitter
c.1333-1032G>A Single submitter
c.1333-1051C>G Single submitter
c.1333-1187C>T Single submitter
c.1333-19C>T Single submitter
c.1333-20A>C Single submitter
c.1333-333G>T Single submitter
c.1333-4T>C Single submitter
c.1333-725CT[12] Single submitter
c.1467+12A>G Single submitter
c.1467+15G>A Single submitter
c.1467+15G>T Single submitter
c.1467+16T>C Single submitter
c.1467+16T>G Single submitter
c.1467+8C>G Single submitter
c.1468-10A>G Single submitter
c.1468-10A>T Single submitter
c.1468-15C>T Single submitter
c.1468-16T>A Single submitter
c.1468-4G>A Single submitter
c.1468-7C>T Single submitter
c.1468-8C>T Single submitter
c.1468-9C>A Single submitter
c.1468-9C>G Single submitter
c.148+11G>A Single submitter
c.148+11G>C Single submitter
c.148+11G>T Single submitter
c.148+12C>G Single submitter
c.148+16G>A Single submitter
c.148+16G>T Single submitter
c.148+19C>A Single submitter
c.148+20C>G Single submitter
c.148+20C>T Single submitter
c.148+7G>A Single submitter
c.148+8C>A Single submitter
c.148+8C>T Single submitter
c.148+9_148+10delinsTA Single submitter
c.148+9G>A Single submitter
c.149-14G>A Single submitter
c.149-14G>T Single submitter
c.149-15T>G Single submitter
c.149-17A>G Single submitter
c.149-5T>C Single submitter
c.149-6C>G Single submitter
c.149-7C>A Single submitter
c.149-7C>T Single submitter
c.149-8C>T Single submitter
c.1630+10C>A Single submitter
c.1630+15C>T Single submitter
c.1630+16A>T Single submitter
c.1630+17C>T Single submitter
c.1630+7T>C Single submitter
c.1630+8C>A Single submitter
c.1630+9A>G Single submitter
c.1631-10_1631-9insTAAACGCCTCCCTGTGCTTT Single submitter
c.1631-10T>C Single submitter
c.1631-13G>A Single submitter
c.1631-13G>C Single submitter
c.1631-19C>G Single submitter
c.1631-19C>T Single submitter
c.1631-4G>A Single submitter
c.1671+11C>G Single submitter
c.1671+8G>T Single submitter
c.1672-12C>T Single submitter
c.1672-13C>G Single submitter
c.1672-13C>T Single submitter
c.1672-15T>G Single submitter
c.1672-16G>A Single submitter
c.1672-5C>T Single submitter
c.1817+10G>A Single submitter
c.1817+11G>A Single submitter
c.1817+11G>C Single submitter
c.1817+14C>T Single submitter
c.1817+16G>A Single submitter
c.1817+16G>C Single submitter
c.1817+19C>A Single submitter
c.1817+19C>T Single submitter
c.1817+20G>A Single submitter
c.1817+442C>T Single submitter
c.1817+7G>A Single submitter
c.1817+8G>A Single submitter
c.1817+9A>G Single submitter
c.1818-13G>A Single submitter
c.1818-8C>T Single submitter
c.1923+11_1923+19del Single submitter
c.1923+11G>A Single submitter
c.1923+13C>A Single submitter
c.1923+19C>A Single submitter
c.1923+19C>G Single submitter
c.1923+20T>C Single submitter
c.1923+9C>G Single submitter
c.1923+9C>T Single submitter
c.1924-18C>T Single submitter
c.1924-20C>T Single submitter
c.1924-4C>G Single submitter
c.1924-6C>A Single submitter
c.1924-7C>A Single submitter
c.1924-7C>T Single submitter
c.2040+11C>T Single submitter
c.2040+12T>A Single submitter
c.2040+13del Single submitter
c.2040+13G>A Single submitter
c.2040+15C>T Single submitter
c.2040+20G>A Single submitter
c.2040+7C>A Single submitter
c.2041-11G>A Single submitter
c.2041-13_2041-12del Single submitter
c.2041-14C>T Single submitter
c.2041-20G>A Single submitter
c.2041-21G>C Single submitter
c.2041-25G>C Single submitter
c.2041-28C>T Single submitter
c.2041-5T>C Single submitter
c.2116+10A>C Single submitter
c.2116+11G>C Single submitter
c.2116+295A>G Single submitter
c.2116+9C>G Single submitter
c.2117-10C>G Single submitter
c.2117-15C>G Single submitter
c.2117-16C>T Single submitter
c.2117-18C>A Single submitter
c.2222+15C>T Single submitter
c.2222+17C>T Single submitter
c.2222+20G>A Single submitter
c.2222+7C>T Single submitter
c.2222+8A>G Single submitter
c.2222+9T>C Single submitter
c.2223-10G>T Single submitter
c.2223-19C>T Single submitter
c.2223-1G>T Single submitter
c.2223-20T>C Single submitter
c.2255+11G>C Single submitter
c.2255+12G>A Single submitter
c.2255+13G>A Single submitter
c.2255+167T>C Single submitter
c.2255+20T>A Single submitter
c.2255+20T>C Single submitter
c.2255+7C>T Single submitter
c.2256-18T>C Single submitter
c.2256-20C>T Single submitter
c.2291+20T>A Single submitter
c.2291+299del Single submitter
c.2291+7C>A Single submitter
c.2291+7C>G Single submitter
c.2292-13C>G Single submitter
c.2292-13C>T Single submitter
c.2292-149G>T Single submitter
c.2292-14C>T Single submitter
c.2292-17C>T Single submitter
c.2390+14G>A Single submitter
c.2390+181T>C Single submitter
c.2390+187_2390+206del Single submitter
c.2390+18G>A Single submitter
c.2390+19G>A Single submitter
c.2390+7del Single submitter
c.2390+7G>A Single submitter
c.2390+8C>G Single submitter
c.2391-10C>T Single submitter
c.2391-11A>G Single submitter
c.2391-140G>T Single submitter
c.2391-17G>C Single submitter
c.2391-19C>T Single submitter
c.2391-4C>G Single submitter
c.2391-7A>T Single submitter
c.2391-8C>A Single submitter
c.2391-9C>T Single submitter
c.2475+146T>C Single submitter
c.2475+14T>C Single submitter
c.2475+16T>A Single submitter
c.2475+20G>A Single submitter
c.2475+8del Single submitter
c.2476-13T>G Single submitter
c.2476-20T>C Single submitter
c.2476-74A>T Single submitter
c.2476-8G>T Single submitter
c.2556+13T>G Single submitter
c.2556+17T>C Single submitter
c.2556+17T>G Single submitter

Uncertain significance 794

Showing the top 300 by review status; the full set is in the sitemap.

c.148+3G>A Multiple submitters permanent neonatal diabetes mellitus
c.1630+5G>T Multiple submitters hyperinsulinemic hypoglycemia, familial, 1
c.1923+3G>A Multiple submitters diabetes mellitus, transient neonatal, 2
c.2040+6T>A Multiple submitters
c.3399+6G>A Multiple submitters maturity-onset diabetes of the young
c.3558-6C>G Multiple submitters transient neonatal diabetes mellitus
c.3650+5G>A Multiple submitters
c.822+3C>T Multiple submitters diabetes mellitus, transient neonatal, 2
c.-215_-214del Multiple submitters transient neonatal diabetes mellitus
c.-215G>C Multiple submitters transient neonatal diabetes mellitus
c.*93T>A Multiple submitters transient neonatal diabetes mellitus
p.Ala1152Asp Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ala1152Val Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ala1220Thr Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ala1310Ser Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ala1410Thr Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ala1453Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1536Val Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ala269Asp Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ala269Val Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ala309Gly Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ala375Thr Multiple submitters hypoglycemia, leucine-induced ⚠
p.Ala390Thr Multiple submitters ABCC8-related disorder ⚠
p.Ala464Val Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ala471Asp Multiple submitters ⚠
p.Ala471Val Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ala478Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala635Thr Multiple submitters ⚠
p.Ala640Val Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ala726Ser Multiple submitters hypoglycemia, leucine-induced ⚠
p.Ala736Ser Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ala847Thr Multiple submitters ABCC8-related disorder ⚠
p.Ala993Thr Multiple submitters transient neonatal diabetes mellitus ⚠
p.Arg1098His Multiple submitters transient neonatal diabetes mellitus ⚠
p.Arg1103Gln Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg1217Gly Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg1273Trp Multiple submitters monogenic diabetes ⚠
p.Arg1313His Multiple submitters type 2 diabetes mellitus ⚠
p.Arg1379Ser Multiple submitters diabetes mellitus, permanent neonatal 3 ⚠
p.Arg1530Cys Multiple submitters ⚠
p.Arg1553Trp Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg16Trp Multiple submitters ⚠
p.Arg202Trp Multiple submitters transient neonatal diabetes mellitus ⚠
p.Arg216His Multiple submitters type 2 diabetes mellitus ⚠
p.Arg248Gln Multiple submitters hypoglycemia, leucine-induced ⚠
p.Arg265Gln Multiple submitters transient neonatal diabetes mellitus ⚠
p.Arg265Trp Multiple submitters ⚠
p.Arg275Trp Multiple submitters hypoglycemia, leucine-induced ⚠
p.Arg285Trp Multiple submitters maturity-onset diabetes of the young ⚠
p.Arg297Met Multiple submitters maturity-onset diabetes of the young ⚠
p.Arg298Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg306Ser Multiple submitters hypoglycemia, leucine-induced ⚠
p.Arg486Gln Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg495Trp Multiple submitters transient neonatal diabetes mellitus ⚠
p.Arg521Gln Multiple submitters type 2 diabetes mellitus ⚠
p.Arg648Cys Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg648His Multiple submitters ⚠
p.Arg650His Multiple submitters ⚠
p.Arg653Trp Multiple submitters ABCC8-related disorder ⚠
p.Arg657Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg705Gln Multiple submitters hypoglycemia, leucine-induced ⚠
p.Arg797Trp Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Arg834His Multiple submitters ⚠
p.Arg877Gln Multiple submitters hypoglycemia, leucine-induced ⚠
p.Arg918Lys Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg933Gln Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg957Gly Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg957His Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Arg992Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg998Pro Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Asn1292Ser Multiple submitters transient neonatal diabetes mellitus ⚠
p.Asn1348Ser Multiple submitters monogenic diabetes ⚠
p.Asn1517Asp Multiple submitters ⚠
p.Asp1030Asn Multiple submitters transient neonatal diabetes mellitus ⚠
p.Asp1354Asn Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Asp310Val Multiple submitters ABCC8-related disorder ⚠
p.Asp325Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp424Asn Multiple submitters transient neonatal diabetes mellitus ⚠
p.Asp673Asn Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Asp760Asn Multiple submitters hypoglycemia, leucine-induced ⚠
p.Asp760Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys677Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys805Tyr Multiple submitters ⚠
p.Gln369Arg Multiple submitters maturity-onset diabetes of the young ⚠
p.Gln485Lys Multiple submitters transient neonatal diabetes mellitus ⚠
p.Gln608Arg Multiple submitters ⚠
p.Gln731Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln953Pro Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Glu1205Lys Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Glu1252Gly Multiple submitters maturity-onset diabetes of the young ⚠
p.Glu1442Asp Multiple submitters hypoglycemia, leucine-induced ⚠
p.Glu1442Lys Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Glu1558Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu628Lys Multiple submitters permanent neonatal diabetes mellitus ⚠
p.Glu746Lys Multiple submitters maturity-onset diabetes of the young ⚠
p.Glu925Gln Multiple submitters ⚠
p.Glu980Lys Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Glu994Lys Multiple submitters hypoglycemia, leucine-induced ⚠
p.Gly1375Arg Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Gly1381Ser Multiple submitters type 2 diabetes mellitus ⚠
p.Gly25Val Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Gly296Arg Multiple submitters diabetes mellitus, permanent neonatal 3 ⚠
p.Gly316Glu Multiple submitters transient neonatal diabetes mellitus ⚠
p.Gly328= Multiple submitters diabetes mellitus, transient neonatal, 2
p.Gly448Ala Multiple submitters hypoglycemia, leucine-induced ⚠
p.Gly457Arg Multiple submitters ⚠
p.Gly505Arg Multiple submitters ⚠
p.Gly505Ser Multiple submitters ⚠
p.Gly658Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly658Val Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Gly826Asp Multiple submitters ⚠
p.Gly92Ser Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.His1097Arg Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.His293Arg Multiple submitters transient neonatal diabetes mellitus ⚠
p.His36Tyr Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ile1235= Multiple submitters transient neonatal diabetes mellitus
p.Ile1423Ser Multiple submitters maturity-onset diabetes of the young ⚠
p.Ile1423Val Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ile1456Met Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ile1456Val Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ile148Thr Multiple submitters hypoglycemia, leucine-induced ⚠
p.Ile196Asn Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ile245Thr Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ile446Thr Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ile538Thr Multiple submitters transient neonatal diabetes mellitus ⚠
p.Ile681Thr Multiple submitters ⚠
p.Ile995Val Multiple submitters ⚠
p.Leu135Val Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Leu1425Pro Multiple submitters transient neonatal diabetes mellitus ⚠
p.Leu175Gln Multiple submitters maturity-onset diabetes of the young ⚠
p.Leu366Phe Multiple submitters transient neonatal diabetes mellitus ⚠
p.Leu407Gln Multiple submitters maturity-onset diabetes of the young ⚠
p.Leu428Val Multiple submitters transient neonatal diabetes mellitus ⚠
p.Leu511Pro Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Leu511Val Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Leu556Phe Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Leu590Val Multiple submitters ⚠
p.Leu663Gln Multiple submitters ⚠
p.Leu666Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu722Phe Multiple submitters hypoglycemia, leucine-induced ⚠
p.Leu966del Multiple submitters
p.Lys1179Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys1343Met Multiple submitters transient neonatal diabetes mellitus ⚠
p.Lys1373del Multiple submitters transient neonatal diabetes mellitus
p.Lys57Arg Multiple submitters maturity-onset diabetes of the young ⚠
p.Met181Leu Multiple submitters transient neonatal diabetes mellitus ⚠
p.Met902Ile Multiple submitters hypoglycemia, leucine-induced ⚠
p.Phe1391Val Multiple submitters transient neonatal diabetes mellitus ⚠
p.Pro1467Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro207Leu Multiple submitters transient neonatal diabetes mellitus ⚠
p.Pro2Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro2Thr Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Pro35Ser Multiple submitters transient neonatal diabetes mellitus ⚠
p.Pro589Leu Multiple submitters hypoglycemia, leucine-induced ⚠
p.Pro629Leu Multiple submitters ⚠
p.Ser1018Leu Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Ser1039Arg Multiple submitters ABCC8-related disorder ⚠
p.Ser1053Asn Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ser1082_Thr1084del Multiple submitters transient neonatal diabetes mellitus
p.Ser1448Gly Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Ser1482Arg Multiple submitters ⚠
p.Ser1500Gly Multiple submitters hypoglycemia, leucine-induced ⚠
p.Ser376Phe Multiple submitters monogenic diabetes ⚠
p.Ser405= Multiple submitters transient neonatal diabetes mellitus
p.Ser987Phe Multiple submitters hypoglycemia, leucine-induced ⚠
p.Thr1138Met Multiple submitters diabetes mellitus, permanent neonatal 3 ⚠
p.Thr1397Lys Multiple submitters Inborn genetic diseases ⚠
p.Thr1531Ala Multiple submitters ⚠
p.Thr1534Asn Multiple submitters hypoglycemia, leucine-induced ⚠
p.Thr371Ile Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Thr393Ile Multiple submitters transient neonatal diabetes mellitus ⚠
p.Thr524Met Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Trp231Arg Multiple submitters transient neonatal diabetes mellitus ⚠
p.Trp739Cys Multiple submitters transient neonatal diabetes mellitus ⚠
p.Tyr124Phe Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Tyr1293Asp Multiple submitters permanent neonatal diabetes mellitus ⚠
p.Tyr230Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr263Asp Multiple submitters permanent neonatal diabetes mellitus ⚠
p.Val1025Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1173Met Multiple submitters diabetes mellitus, permanent neonatal 3 ⚠
p.Val1207Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1259Met Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Val1351Met Multiple submitters Inborn genetic diseases ⚠
p.Val1360Met Multiple submitters maturity-onset diabetes of the young ⚠
p.Val1429Ile Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
p.Val1496Met Multiple submitters hyperinsulinemic hypoglycemia, familial, 1 ⚠
p.Val1539Met Multiple submitters transient neonatal diabetes mellitus ⚠
p.Val185Met Multiple submitters ⚠
p.Val222Met Multiple submitters hypoglycemia, leucine-induced ⚠
p.Val357Ile Multiple submitters hypoglycemia, leucine-induced ⚠
p.Val421Ile Multiple submitters transient neonatal diabetes mellitus ⚠
p.Val477Met Multiple submitters hypoglycemia, leucine-induced ⚠
p.Val563Ile Multiple submitters transient neonatal diabetes mellitus ⚠
p.Val601Ile Multiple submitters ABCC8-related disorder ⚠
p.Val605Met Multiple submitters hypoglycemia, leucine-induced ⚠
p.Val769Met Multiple submitters diabetes mellitus, transient neonatal, 2 ⚠
c.1012-2A>G Single submitter transient neonatal diabetes mellitus
c.1012-7C>G Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.1332+1005C>G Single submitter
c.1332+3A>G Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.1467+1G>T Single submitter transient neonatal diabetes mellitus
c.1467+2T>C Single submitter transient neonatal diabetes mellitus
c.1468-2A>T Single submitter maturity-onset diabetes of the young
c.1468-48G>A Single submitter
c.1468-52G>A Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.148+4A>T Single submitter transient neonatal diabetes mellitus
c.1630+5G>A Single submitter maturity-onset diabetes of the young
c.1672-473T>G Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.1817+1G>T Single submitter transient neonatal diabetes mellitus
c.1817+2_1817+6del Single submitter transient neonatal diabetes mellitus
c.1924-6C>T Single submitter
c.2040+100G>T Single submitter transient neonatal diabetes mellitus
c.2041-1G>A Single submitter transient neonatal diabetes mellitus
c.2041-25G>A Single submitter transient neonatal diabetes mellitus
c.2041-3A>G Single submitter
c.2116+1G>A Single submitter transient neonatal diabetes mellitus
c.2117-10C>T Single submitter maturity-onset diabetes of the young
c.2291+4C>G Single submitter
c.2291+4C>T Single submitter
c.2391-5G>T Single submitter hypoglycemia, leucine-induced
c.2475+19G>A Single submitter transient neonatal diabetes mellitus
c.2556+1G>A Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.2556+9A>C Single submitter maturity-onset diabetes of the young
c.2694+1G>C Single submitter transient neonatal diabetes mellitus
c.2694+3G>A Single submitter transient neonatal diabetes mellitus
c.2695-2A>T Single submitter transient neonatal diabetes mellitus
c.2820+4G>A Single submitter
c.2820+5G>C Single submitter
c.2920+4C>T Single submitter
c.3151_3162+15del Single submitter transient neonatal diabetes mellitus
c.3329+5C>G Single submitter
c.3330-13G>A Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.3330-5C>T Single submitter hypoglycemia, leucine-induced
c.3557+1del Single submitter maturity-onset diabetes of the young
c.3650+2T>A Single submitter transient neonatal diabetes mellitus
c.3650+5_3650+8dup Single submitter
c.3753+6T>C Single submitter
c.3754-2A>G Single submitter transient neonatal diabetes mellitus
c.3989-14A>G Single submitter hypoglycemia, leucine-induced
c.3989-28_3989-11del Single submitter hypoglycemia, leucine-induced
c.4120-1G>T Single submitter transient neonatal diabetes mellitus
c.4198+3G>T Single submitter hypoglycemia, leucine-induced
c.4307+13A>C Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.4308-14T>A Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.4411+18T>G Single submitter hypoglycemia, leucine-induced
c.4411+26G>C Single submitter hyperinsulinemic hypoglycemia, familial, 1
c.4545+4G>C Single submitter maturity-onset diabetes of the young
c.4546-6T>A Single submitter
c.4608+5G>C Single submitter
c.823-1G>A Single submitter transient neonatal diabetes mellitus
c.823-7T>A Single submitter transient neonatal diabetes mellitus
c.-107del Single submitter
c.-385G>A Single submitter
c.-516C>G Single submitter
c.-545A>G Single submitter
c.-64C>G Single submitter
c.-71A>T Single submitter
c.*118A>G Single submitter maturity-onset diabetes of the young
c.*17T>C Single submitter
c.*7A>C Single submitter
p.Ala1001Thr Single submitter hypoglycemia, leucine-induced ⚠
p.Ala1007Pro Single submitter hypoglycemia, leucine-induced ⚠
p.Ala1040Thr Single submitter ⚠
p.Ala110Thr Single submitter type 2 diabetes mellitus ⚠
p.Ala110Val Single submitter ⚠
p.Ala1154Val Single submitter Inborn genetic diseases ⚠
p.Ala1166Thr Single submitter ⚠
p.Ala1171Thr Single submitter Inborn genetic diseases ⚠
p.Ala1262Val Single submitter ⚠
p.Ala1263Glu Single submitter Inborn genetic diseases ⚠
p.Ala1263Gly Single submitter ⚠
p.Ala1302Val Single submitter transient neonatal diabetes mellitus ⚠
p.Ala1330Ser Single submitter hypoglycemia, leucine-induced ⚠
p.Ala1369Phe Single submitter
p.Ala1492fs Single submitter transient neonatal diabetes mellitus
p.Ala1509= Single submitter maturity-onset diabetes of the young
p.Ala1509Val Single submitter Inborn genetic diseases ⚠
p.Ala1536Pro Single submitter ⚠
p.Ala1536Thr Single submitter ⚠
p.Ala1574Thr Single submitter ⚠
p.Ala235Thr Single submitter hypoglycemia, leucine-induced ⚠
p.Ala235Val Single submitter ⚠
p.Ala240Thr Single submitter ⚠
p.Ala272Thr Single submitter hypoglycemia, leucine-induced ⚠
p.Ala284Val Single submitter ⚠
p.Ala290Pro Single submitter hypoglycemia, leucine-induced ⚠
p.Ala294Asp Single submitter transient neonatal diabetes mellitus ⚠
p.Ala30Thr Single submitter ⚠
p.Ala355Asp Single submitter hypoglycemia, leucine-induced ⚠
p.Ala365Val Single submitter Inborn genetic diseases ⚠
p.Ala380Asn Single submitter
p.Ala422Val Single submitter hypoglycemia, leucine-induced ⚠
p.Ala478Gly Single submitter transient neonatal diabetes mellitus ⚠
p.Ala535fs Single submitter transient neonatal diabetes mellitus
p.Ala576Asp Single submitter ⚠
p.Ala617Thr Single submitter transient neonatal diabetes mellitus ⚠
p.Ala640Thr Single submitter Inborn genetic diseases ⚠
p.Ala770Gly Single submitter hypoglycemia, leucine-induced ⚠
p.Ala847Pro Single submitter maturity-onset diabetes of the young ⚠
p.Ala858= Single submitter maturity-onset diabetes of the young