KCNJ11 — 547 ClinVar variants

All ClinVar germline KCNJ11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

21 Pathogenic · 15 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 107 Conflicting · 9 Benign · 4 Benign/Likely benign · 95 Likely benign · 253 Uncertain significance

Full KCNJ11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

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 2

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

KCNJ11 p.Arg50Gln Pathogenic/Likely pathogenic Multiple submitters
Diabetes
KCNJ11 p.Val59Met Pathogenic Multiple submitters
diabetes mellitus, permanent neonatal 2

Predictors agree, ClinVar conflicts 32

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

KCNJ11 p.Ala101Asp Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Ala190Thr Conflicting Single submitter
Inborn genetic diseases
KCNJ11 p.Ala213Thr Conflicting Single submitter
type 2 diabetes mellitus
KCNJ11 p.Arg136His Conflicting Single submitter
familial hyperinsulinism
KCNJ11 p.Arg136Ser Conflicting Single submitter
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Arg195His Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Arg27His Conflicting Single submitter
KCNJ11-related disorder
KCNJ11 p.Arg301Cys Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Arg301Pro Conflicting Single submitter
monogenic diabetes
KCNJ11 p.Arg54Cys Conflicting Single submitter
type 2 diabetes mellitus
KCNJ11 p.Arg54His Conflicting Single submitter
hyperinsulinemic hypoglycemia
KCNJ11 p.Cys42Arg Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Glu10Lys Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Glu292Lys Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Gly156Arg Conflicting Single submitter
hyperinsulinism
KCNJ11 p.Gly289Ala Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Gly40Asp Conflicting Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.His259Arg Conflicting Single submitter
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Leu122Pro Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Leu270Val Conflicting Single submitter
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Lys170Asn Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Lys38Glu Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Met158Leu Conflicting Single submitter
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Pro21Leu Conflicting Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser385Cys Conflicting Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.Thr294Met Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Thr62Met Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Tyr330His Conflicting Single submitter
diabetes mellitus
KCNJ11 p.Val13Met Conflicting Single submitter
Inborn genetic diseases
KCNJ11 p.Val151Met Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Val373Met Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Val44Met Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 2

Predictors lean, ClinVar uncertain 127

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

KCNJ11 p.Ala174Asp Uncertain significance Multiple submitters
Neonatal hypoglycemia
KCNJ11 p.Ala28Val Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Ala362Thr Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Arg16His Uncertain significance Multiple submitters
type 2 diabetes mellitus
KCNJ11 p.Arg221Gly Uncertain significance Multiple submitters
Inborn genetic diseases
KCNJ11 p.Arg27Cys Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Arg29His Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Arg31Trp Uncertain significance Multiple submitters
maturity-onset diabetes of the young type 13
KCNJ11 p.Arg325Cys Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Arg325His Uncertain significance Multiple submitters
KCNJ11 p.Arg325Ser Uncertain significance Multiple submitters
type 2 diabetes mellitus
KCNJ11 p.Arg347Cys Uncertain significance Multiple submitters
KCNJ11 p.Arg347His Uncertain significance Multiple submitters
maturity-onset diabetes of the young type 13
KCNJ11 p.Arg365Cys Uncertain significance Multiple submitters
maturity-onset diabetes of the young type 13
KCNJ11 p.Arg365His Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Asp262Asn Uncertain significance Multiple submitters
Inborn genetic diseases
KCNJ11 p.Asp269Asn Uncertain significance Multiple submitters
KCNJ11 p.Asp274Gly Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Glu104Lys Uncertain significance Multiple submitters
KCNJ11 p.Gly312Ser Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Gly366Arg Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.His115Arg Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ile261Thr Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Leu144Val Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Leu181Phe Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Met240Arg Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Met375Val Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Pro21Thr Uncertain significance Multiple submitters
type 1 diabetes mellitus
KCNJ11 p.Pro317Ser Uncertain significance Multiple submitters
KCNJ11 p.Ser116Pro Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Ser118Leu Uncertain significance Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Ser265Ile Uncertain significance Multiple submitters
KCNJ11-related disorder
KCNJ11 p.Ser273Gly Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser82Asn Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Thr112Asn Uncertain significance Multiple submitters
KCNJ11 p.Thr180Asn Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Val219Leu Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Val244Met Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Val285Ile Uncertain significance Multiple submitters
maturity-onset diabetes of the young type 13
KCNJ11 p.Val339Gly Uncertain significance Multiple submitters
KCNJ11-related disorder
KCNJ11 p.Ala18Glu Uncertain significance Single submitter
KCNJ11 p.Ala22Thr Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Ala22Val Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ala271Thr Uncertain significance Single submitter
KCNJ11 p.Ala346Val Uncertain significance Single submitter
KCNJ11 p.Ala376Ser Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Ala96Val Uncertain significance Single submitter
permanent neonatal diabetes mellitus
KCNJ11 p.Arg221Pro Uncertain significance Single submitter
KCNJ11 p.Arg31Gln Uncertain significance Single submitter
KCNJ11 p.Arg325Leu Uncertain significance Single submitter
KCNJ11 p.Arg32Gly Uncertain significance Single submitter
KCNJ11 p.Arg365Leu Uncertain significance Single submitter
KCNJ11 p.Arg365Ser Uncertain significance Single submitter
KCNJ11 p.Arg369Cys Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Arg369His Uncertain significance Single submitter
KCNJ11 p.Arg371His Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Asp20Glu Uncertain significance Single submitter
KCNJ11 p.Asp352Glu Uncertain significance Single submitter
KCNJ11 p.Asp387Asn Uncertain significance Single submitter
KCNJ11 p.Asp58Glu Uncertain significance Single submitter
KCNJ11 p.Cys110Phe Uncertain significance Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.Gln299Arg Uncertain significance Single submitter
KCNJ11 p.Gln299Leu Uncertain significance Single submitter
KCNJ11 p.Gln348His Uncertain significance Single submitter
KCNJ11 p.Glu108Asp Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Glu179Val Uncertain significance Single submitter
KCNJ11 p.Glu322Asp Uncertain significance Single submitter
KCNJ11 p.Glu357Asp Uncertain significance Single submitter
KCNJ11 p.Gly105Val Uncertain significance Single submitter
KCNJ11 p.Gly246Ser Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.His175Gln Uncertain significance Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.His234Gln Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.His259Asn Uncertain significance Single submitter
KCNJ11 p.His276Gln Uncertain significance Single submitter
permanent neonatal diabetes mellitus
KCNJ11 p.His353Arg Uncertain significance Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.His97Gln Uncertain significance Single submitter
KCNJ11 p.His97Tyr Uncertain significance Single submitter
KCNJ11 p.Ile210Thr Uncertain significance Single submitter
KCNJ11 p.Ile238Asn Uncertain significance Single submitter
KCNJ11 p.Ile249Val Uncertain significance Single submitter
KCNJ11 p.Ile283Asn Uncertain significance Single submitter
KCNJ11 p.Ile318Val Uncertain significance Single submitter
KCNJ11 p.Leu164His Uncertain significance Single submitter
KCNJ11 p.Leu233Ile Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Leu251Pro Uncertain significance Single submitter
KCNJ11 p.Leu270Met Uncertain significance Single submitter
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Leu349Pro Uncertain significance Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Met158Val Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Met163Thr Uncertain significance Single submitter
KCNJ11 p.Met240Thr Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Met375Ile Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Met375Leu Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Met88Val Uncertain significance Single submitter
KCNJ11 p.Phe315Leu Uncertain significance Single submitter
KCNJ11 p.Phe315Val Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Phe60Ser Uncertain significance Single submitter
KCNJ11 p.Phe60Tyr Uncertain significance Single submitter
hyperinsulinism
KCNJ11 p.Phe75Tyr Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Pro102Ser Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Pro266Leu Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Pro272Ser Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Pro342Ser Uncertain significance Single submitter
KCNJ11 p.Pro374Arg Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser103Arg Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Ser208Arg Uncertain significance Single submitter
KCNJ11 p.Ser212Asn Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser248Asn Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Ser331Tyr Uncertain significance Single submitter
KCNJ11 p.Ser354Gly Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser37Cys Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser385Phe Uncertain significance Single submitter
KCNJ11 p.Thr106Ile Uncertain significance Single submitter
KCNJ11 p.Thr180Ile Uncertain significance Single submitter
KCNJ11 p.Thr302Asn Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Thr302Ile Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Thr345Ala Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Trp83Ser Uncertain significance Single submitter
KCNJ11 p.Val260Ile Uncertain significance Single submitter
KCNJ11 p.Val285Phe Uncertain significance Single submitter
KCNJ11 p.Val291Glu Uncertain significance Single submitter
KCNJ11 p.Val337Ala Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Ala364Val Uncertain significance No assertion criteria
KCNJ11-related disorder
KCNJ11 p.Asp99Asn Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Cys142Trp Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Leu191Pro Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Pro24Thr Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Thr341Ile Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus

Predictors split 94

The independent predictors disagree with each other — read with care.

KCNJ11 p.Ala145Ser Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ala87Thr Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Arg176Cys Uncertain significance Multiple submitters
KCNJ11-related disorder
KCNJ11 p.Arg176His Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Arg221His Uncertain significance Multiple submitters
hyperinsulinism
KCNJ11 p.Arg314His Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.Arg34His Pathogenic/Likely pathogenic Multiple submitters
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Arg369Ser Uncertain significance Multiple submitters
type 2 diabetes mellitus
KCNJ11 p.Arg4Cys Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Asp323Gly Uncertain significance Multiple submitters
KCNJ11 p.Glu322Lys Pathogenic Multiple submitters
diabetes mellitus
KCNJ11 p.Gly98Ser Uncertain significance Multiple submitters
maturity-onset diabetes of the young
KCNJ11 p.His186Asp Pathogenic/Likely pathogenic Multiple submitters
permanent neonatal diabetes mellitus
KCNJ11 p.Ile49Met Uncertain significance Multiple submitters
Inborn genetic diseases
KCNJ11 p.Leu355Pro Uncertain significance Multiple submitters
maturity-onset diabetes of the young type 13
KCNJ11 p.Lys222Gln Uncertain significance Multiple submitters
KCNJ11 p.Met137Ile Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ser331Cys Uncertain significance Multiple submitters
maturity-onset diabetes of the young type 13
KCNJ11 p.Thr71Ile Uncertain significance Multiple submitters
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Val155Met Uncertain significance Multiple submitters
diabetes mellitus
KCNJ11 p.Val64Leu Uncertain significance Multiple submitters
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ala161Thr Uncertain significance Single submitter
KCNJ11 p.Ala172Val Conflicting Single submitter
KCNJ11 p.Ala174Gly Pathogenic Single submitter
Neonatal insulin-dependent diabetes mellitus
KCNJ11 p.Ala253Val Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ala96Thr Conflicting Single submitter
type 2 diabetes mellitus
KCNJ11 p.Arg176Gly Uncertain significance Single submitter
KCNJ11 p.Arg192His Conflicting Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Arg221Cys Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Arg4His Uncertain significance Single submitter
KCNJ11 p.Arg4Ser Uncertain significance Single submitter
KCNJ11 p.Arg50Gly Pathogenic Single submitter
KCNJ11 p.Arg50Pro Pathogenic Single submitter
KCNJ11-related disorder
KCNJ11 p.Arg50Trp Conflicting Single submitter
KCNJ11 p.Asn335Lys Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Asn43Ser Uncertain significance Single submitter
KCNJ11 p.Asp204Asn Uncertain significance Single submitter
KCNJ11 p.Asp204Glu Likely pathogenic Single submitter
KCNJ11 p.Asp329Asn Uncertain significance Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.Gln52Arg Benign Single submitter
transient neonatal diabetes mellitus
KCNJ11 p.Gln52Pro Uncertain significance Single submitter
KCNJ11 p.Glu179Ala Conflicting Single submitter
Neonatal hypoglycemia
KCNJ11 p.Gly245Cys Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Gly334Arg Likely pathogenic Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Gly334Asp Benign Single submitter
transient neonatal diabetes mellitus
KCNJ11 p.Gly334Ser Likely pathogenic Single submitter
KCNJ11 p.Gly334Val Likely pathogenic Single submitter
neonatal diabetes mellitus
KCNJ11 p.Gly53Asp Benign Single submitter
Neonatal hypoglycemia
KCNJ11 p.Gly53Ser Conflicting Single submitter
transient neonatal diabetes mellitus
KCNJ11 p.Gly98Asp Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.His115Leu Uncertain significance Single submitter
KCNJ11 p.His186Tyr Conflicting Single submitter
KCNJ11 p.His46Tyr Pathogenic Single submitter
KCNJ11 p.Ile167Leu Benign Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Ile182Val Benign Single submitter
transient neonatal diabetes mellitus
KCNJ11 p.Ile210Val Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Leu147Pro Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Leu164Ile Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Leu164Phe Conflicting Single submitter
KCNJ11 p.Leu205Phe Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Leu233Phe Likely pathogenic Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.Leu2Pro Conflicting Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Lys207Asn Uncertain significance Single submitter
KCNJ11 p.Lys47Glu Uncertain significance Single submitter
KCNJ11 p.Met209Val Uncertain significance Single submitter
KCNJ11 p.Met217Thr Uncertain significance Single submitter
KCNJ11 p.Met77Val Uncertain significance Single submitter
KCNJ11 p.Met88Ile Uncertain significance Single submitter
maturity-onset diabetes of the young
KCNJ11 p.Phe133Tyr Uncertain significance Single submitter
KCNJ11 p.Phe333Ile Benign Single submitter
Neonatal hypoglycemia
KCNJ11 p.Phe35Leu Benign Single submitter
Neonatal hypoglycemia
KCNJ11 p.Phe55Leu Conflicting Single submitter
type 2 diabetes mellitus
KCNJ11 p.Phe79Leu Uncertain significance Single submitter
KCNJ11 p.Pro109Ser Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Pro340His Uncertain significance Single submitter
KCNJ11 p.Pro9Leu Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Ser225Ile Uncertain significance Single submitter
KCNJ11 p.Ser3Cys Pathogenic Single submitter
Neonatal insulin-dependent diabetes mellitus
KCNJ11 p.Thr214Ile Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Thr345Met Conflicting Single submitter
maturity-onset diabetes of the young type 13
KCNJ11 p.Thr76Ala Uncertain significance Single submitter
KCNJ11 p.Tyr268Phe Uncertain significance Single submitter
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Tyr330Phe Uncertain significance Single submitter
KCNJ11 p.Val188Leu Uncertain significance Single submitter
Inborn genetic diseases
KCNJ11 p.Val252Ala Conflicting Single submitter
transient neonatal diabetes mellitus
KCNJ11 p.Val252Leu Likely pathogenic Single submitter
neonatal diabetes mellitus
KCNJ11 p.Val290Met Conflicting Single submitter
hyperinsulinemic hypoglycemia, familial, 2
KCNJ11 p.Val59Ala Likely pathogenic Single submitter
diabetes mellitus, permanent neonatal 2
KCNJ11 p.Gly53Arg Pathogenic No assertion criteria
diabetes mellitus, transient neonatal, 3
KCNJ11 p.Ile125Leu Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Ile154Val Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Phe123Leu Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Pro109Arg Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus
KCNJ11 p.Pro9His Uncertain significance No assertion criteria
permanent neonatal diabetes mellitus

All KCNJ11 variants

Pathogenic 21

p.Arg201Cys Multiple submitters diabetes mellitus, permanent neonatal 2
p.Arg201His Multiple submitters diabetes mellitus, permanent neonatal 2
p.Glu322Lys Multiple submitters diabetes mellitus ⚠
p.Val59Met Multiple submitters diabetes mellitus, permanent neonatal 2 ⚠
p.Ala174Gly Single submitter Neonatal insulin-dependent diabetes mellitus ⚠
p.Ala94fs Single submitter
p.Arg50Gly Single submitter ⚠
p.Arg50Pro Single submitter KCNJ11-related disorder ⚠
p.Glu11Ter Single submitter
p.Glu51Ter Single submitter
p.His186fs Single submitter
p.His46Tyr Single submitter ⚠
p.Ile131fs Single submitter
p.Leu164Pro Single submitter
p.Phe333Ser Single submitter
p.Pro21fs Single submitter
p.Pro272fs Single submitter
p.Ser3Cys Single submitter Neonatal insulin-dependent diabetes mellitus ⚠
p.Thr106fs Single submitter
p.Val111fs Single submitter
p.Gly53Arg No assertion criteria diabetes mellitus, transient neonatal, 3 ⚠

Pathogenic/Likely pathogenic 15

p.Ala187Val Multiple submitters familial hyperinsulinism
p.Arg136Cys Multiple submitters type 2 diabetes mellitus
p.Arg136Leu Multiple submitters familial hyperinsulinism
p.Arg206Cys Multiple submitters KCNJ11-related disorder
p.Arg206His Multiple submitters familial hyperinsulinism
p.Arg301Gly Multiple submitters KCNJ11-related disorder
p.Arg301His Multiple submitters diabetes mellitus, permanent neonatal 2
p.Arg34Cys Multiple submitters familial hyperinsulinism
p.Arg34His Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Arg50Gln Multiple submitters Diabetes ⚠
p.Arg54fs Multiple submitters diabetes mellitus, permanent neonatal 2
p.Glu227Lys Multiple submitters KCNJ11-related disorder
p.Glu282Lys Multiple submitters type 2 diabetes mellitus
p.His186Asp Multiple submitters permanent neonatal diabetes mellitus ⚠
p.Tyr330Cys Multiple submitters type 2 diabetes mellitus

Likely pathogenic 43

p.Lys332fs Multiple submitters permanent neonatal diabetes mellitus
p.Pro254Leu Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
p.Ser273fs Multiple submitters type 2 diabetes mellitus
p.Trp91Arg Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
p.Val64Met Multiple submitters neonatal diabetes mellitus
p.Ala120fs Single submitter permanent neonatal diabetes mellitus
p.Ala346fs Single submitter permanent neonatal diabetes mellitus
p.Ala364fs Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Arg192Cys Single submitter maturity-onset diabetes of the young type 13
p.Arg201Leu Single submitter diabetes mellitus, permanent neonatal 2
p.Arg34Gly Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Asp204Glu Single submitter ⚠
p.Cys166fs Single submitter type 2 diabetes mellitus
p.Cys166Trp Single submitter diabetes mellitus
p.Cys344fs Single submitter diabetes mellitus, transient neonatal, 3
p.Cys42fs Single submitter permanent neonatal diabetes mellitus
p.Gln235Ter Single submitter type 2 diabetes mellitus
p.Gln313Ter Single submitter permanent neonatal diabetes mellitus
p.Glu282Gln Single submitter
p.Glu282Ter Single submitter type 2 diabetes mellitus
p.Gly289Asp Single submitter KCNJ11-related disorder
p.Gly289Val Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Gly334Arg Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Gly334Ser Single submitter ⚠
p.Gly334Val Single submitter neonatal diabetes mellitus ⚠
p.Ile189fs Single submitter
p.Leu233Phe Single submitter maturity-onset diabetes of the young type 13 ⚠
p.Leu270fs Single submitter type 2 diabetes mellitus
p.Leu310fs Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Leu66del Single submitter
p.Leu72Ter Single submitter
p.Phe123fs Single submitter type 2 diabetes mellitus
p.Phe133fs Single submitter type 2 diabetes mellitus
p.Phe315Ser Single submitter
p.Ser331fs Single submitter type 2 diabetes mellitus
p.Thr214fs Single submitter type 2 diabetes mellitus
p.Thr341fs Single submitter permanent neonatal diabetes mellitus
p.Trp90Ter Single submitter type 2 diabetes mellitus
p.Val252Leu Single submitter neonatal diabetes mellitus ⚠
p.Val290_Thr298del Single submitter
p.Val44Ala Single submitter
p.Val59Ala Single submitter diabetes mellitus, permanent neonatal 2 ⚠
p.Thr62Arg No assertion criteria hypertrichosis

Conflicting classifications of pathogenicity 107

c.-154G>T Single submitter maturity-onset diabetes of the young type 13
c.-498T>C Single submitter maturity-onset diabetes of the young type 13
c.-559G>C Single submitter maturity-onset diabetes of the young
c.*1168G>A Single submitter maturity-onset diabetes of the young type 13
c.*1197G>A Single submitter maturity-onset diabetes of the young
c.*288G>A Single submitter maturity-onset diabetes of the young type 13
c.*376C>T Single submitter maturity-onset diabetes of the young type 13
c.*40C>T Single submitter maturity-onset diabetes of the young type 13
c.*441T>C Single submitter diabetes mellitus, transient neonatal, 3
c.*487A>G Single submitter maturity-onset diabetes of the young type 13
c.*529G>A Single submitter maturity-onset diabetes of the young type 13
c.*62G>A Single submitter maturity-onset diabetes of the young type 13
c.*686A>G Single submitter maturity-onset diabetes of the young type 13
c.*697G>A Single submitter maturity-onset diabetes of the young type 13
c.*766G>A Single submitter maturity-onset diabetes of the young type 13
c.*76G>A Single submitter maturity-onset diabetes of the young type 13
c.*848A>G Single submitter hyperinsulinemic hypoglycemia, familial, 2
c.*862G>T Single submitter maturity-onset diabetes of the young type 13
c.*92C>T Single submitter maturity-onset diabetes of the young type 13
p.Ala101Asp Single submitter maturity-onset diabetes of the young ⚠
p.Ala172Val Single submitter ⚠
p.Ala178fs Single submitter maturity-onset diabetes of the young
p.Ala18= Single submitter maturity-onset diabetes of the young
p.Ala187= Single submitter Inborn genetic diseases
p.Ala190Thr Single submitter Inborn genetic diseases ⚠
p.Ala213Thr Single submitter type 2 diabetes mellitus ⚠
p.Ala96Thr Single submitter type 2 diabetes mellitus ⚠
p.Arg136fs Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Arg136His Single submitter familial hyperinsulinism ⚠
p.Arg136Ser Single submitter diabetes mellitus, permanent neonatal 2 ⚠
p.Arg192His Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Arg195His Single submitter maturity-onset diabetes of the young ⚠
p.Arg27His Single submitter KCNJ11-related disorder ⚠
p.Arg301= Single submitter maturity-onset diabetes of the young
p.Arg301Cys Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Arg301Pro Single submitter monogenic diabetes ⚠
p.Arg365= Single submitter Inborn genetic diseases
p.Arg50Trp Single submitter ⚠
p.Arg54Cys Single submitter type 2 diabetes mellitus ⚠
p.Arg54His Single submitter hyperinsulinemic hypoglycemia ⚠
p.Asn160= Single submitter maturity-onset diabetes of the young
p.Asn242= Single submitter maturity-onset diabetes of the young
p.Asn247= Single submitter maturity-onset diabetes of the young type 13
p.Asp323= Single submitter
p.Asp323fs Single submitter maturity-onset diabetes of the young type 13
p.Asp58= Single submitter maturity-onset diabetes of the young
p.Cys42Arg Single submitter maturity-onset diabetes of the young ⚠
p.Gln52Ter Single submitter diabetes mellitus, transient neonatal, 3
p.Glu10Lys Single submitter maturity-onset diabetes of the young ⚠
p.Glu179Ala Single submitter Neonatal hypoglycemia ⚠
p.Glu292Lys Single submitter maturity-onset diabetes of the young ⚠
p.Glu51fs Single submitter maturity-onset diabetes of the young
p.Gly156Arg Single submitter hyperinsulinism ⚠
p.Gly228= Single submitter maturity-onset diabetes of the young
p.Gly289Ala Single submitter maturity-onset diabetes of the young ⚠
p.Gly312= Single submitter maturity-onset diabetes of the young
p.Gly40Asp Single submitter maturity-onset diabetes of the young type 13 ⚠
p.Gly53Ser Single submitter transient neonatal diabetes mellitus ⚠
p.His186= Single submitter maturity-onset diabetes of the young
p.His186Tyr Single submitter ⚠
p.His193= Single submitter Inborn genetic diseases
p.His259Arg Single submitter diabetes mellitus, permanent neonatal 2 ⚠
p.His97= Single submitter maturity-onset diabetes of the young
p.Leu122Pro Single submitter maturity-onset diabetes of the young ⚠
p.Leu147Pro Single submitter maturity-onset diabetes of the young ⚠
p.Leu164Phe Single submitter ⚠
p.Leu17= Single submitter transient neonatal diabetes mellitus
p.Leu267= Single submitter diabetes mellitus, permanent neonatal 2
p.Leu270Val Single submitter diabetes mellitus, permanent neonatal 2 ⚠
p.Leu281= Single submitter maturity-onset diabetes of the young type 13
p.Leu2Pro Single submitter maturity-onset diabetes of the young ⚠
p.Leu359= Single submitter maturity-onset diabetes of the young
p.Leu80fs Single submitter maturity-onset diabetes of the young
p.Lys170Asn Single submitter maturity-onset diabetes of the young ⚠
p.Lys381= Single submitter maturity-onset diabetes of the young type 13
p.Lys38Glu Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Met158Leu Single submitter diabetes mellitus, permanent neonatal 2 ⚠
p.Met240fs Single submitter maturity-onset diabetes of the young
p.Phe55Leu Single submitter type 2 diabetes mellitus ⚠
p.Phe95= Single submitter maturity-onset diabetes of the young
p.Pro21Leu Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Pro226= Single submitter Inborn genetic diseases
p.Pro254= Single submitter maturity-onset diabetes of the young
p.Ser118= Single submitter maturity-onset diabetes of the young
p.Ser124fs Single submitter DEND syndrome
p.Ser212= Single submitter maturity-onset diabetes of the young
p.Ser273= Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Ser354= Single submitter maturity-onset diabetes of the young
p.Ser363= Single submitter Inborn genetic diseases
p.Ser385Cys Single submitter maturity-onset diabetes of the young type 13 ⚠
p.Ter391= Single submitter hyperinsulinemic hypoglycemia, familial, 2
p.Thr294Met Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Thr298= Single submitter maturity-onset diabetes of the young
p.Thr345Met Single submitter maturity-onset diabetes of the young type 13 ⚠
p.Thr62Met Single submitter maturity-onset diabetes of the young ⚠
p.Tyr12Ter Single submitter maturity-onset diabetes of the young
p.Tyr258Ter Single submitter maturity-onset diabetes of the young
p.Tyr268= Single submitter maturity-onset diabetes of the young type 13
p.Tyr304= Single submitter maturity-onset diabetes of the young
p.Tyr330His Single submitter diabetes mellitus ⚠
p.Val13Met Single submitter Inborn genetic diseases ⚠
p.Val151Met Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Val252Ala Single submitter transient neonatal diabetes mellitus ⚠
p.Val290Met Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Val339= Single submitter maturity-onset diabetes of the young
p.Val373Met Single submitter maturity-onset diabetes of the young ⚠
p.Val44Met Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠

Benign 9

c.-17+438G>A Multiple submitters
c.-507del Multiple submitters
p.Gln52Arg Single submitter transient neonatal diabetes mellitus ⚠
p.Gly334Asp Single submitter transient neonatal diabetes mellitus ⚠
p.Gly53Asp Single submitter Neonatal hypoglycemia ⚠
p.Ile167Leu Single submitter maturity-onset diabetes of the young ⚠
p.Ile182Val Single submitter transient neonatal diabetes mellitus ⚠
p.Phe333Ile Single submitter Neonatal hypoglycemia ⚠
p.Phe35Leu Single submitter Neonatal hypoglycemia ⚠

Benign/Likely benign 4

c.*215C>T Multiple submitters type 2 diabetes mellitus
p.Ala190= Multiple submitters diabetes mellitus, transient neonatal, 3
p.Ser103= Multiple submitters permanent neonatal diabetes mellitus
p.Val36= Multiple submitters maturity-onset diabetes of the young type 13

Likely benign 95

p.Ala306= Multiple submitters Inborn genetic diseases
p.Ala33= Multiple submitters maturity-onset diabetes of the young type 13
p.Gly165= Multiple submitters Inborn genetic diseases
p.Ile150= Multiple submitters maturity-onset diabetes of the young type 13
p.Ile154= Multiple submitters
p.Ile384= Multiple submitters Inborn genetic diseases
p.Lys23Glu Multiple submitters maturity-onset diabetes of the young type 13
p.Ser372= Multiple submitters
p.Thr294= Multiple submitters Inborn genetic diseases
p.Thr336= Multiple submitters Inborn genetic diseases
p.Thr62= Multiple submitters
p.Tyr12= Multiple submitters permanent neonatal diabetes mellitus
p.Val236= Multiple submitters permanent neonatal diabetes mellitus
p.Ala145= Single submitter
p.Ala263= Single submitter
p.Ala362= Single submitter
p.Ala364= Single submitter
p.Arg136= Single submitter
p.Arg177= Single submitter
p.Arg221= Single submitter
p.Arg29= Single submitter
p.Arg34= Single submitter
p.Arg347= Single submitter
p.Asn153= Single submitter
p.Asn264= Single submitter
p.Asn43= Single submitter
p.Asp269= Single submitter
p.Asp387= Single submitter
p.Cys110= Single submitter
p.Gln299= Single submitter
p.Glu10Gln Single submitter
p.Glu11= Single submitter
p.Glu179= Single submitter
p.Glu19= Single submitter
p.Glu288= Single submitter
p.Gly135= Single submitter
p.Gly243= Single submitter
p.Gly289= Single submitter
p.Gly295= Single submitter
p.His276= Single submitter
p.Ile131= Single submitter
p.Ile159= Single submitter
p.Ile189= Single submitter
p.Ile210= Single submitter
p.Ile238= Single submitter
p.Ile283= Single submitter
p.Ile284= Single submitter
p.Ile318= Single submitter
p.Ile74= Single submitter
p.Ile8= Single submitter
p.Ile93= Single submitter
p.Leu100= Single submitter
p.Leu122= Single submitter
p.Leu149= Single submitter
p.Leu205= Single submitter
p.Leu233= Single submitter
p.Leu251= Single submitter
p.Leu255= Single submitter
p.Leu361= Single submitter
p.Leu389= Single submitter
p.Leu56= Single submitter
p.Leu72= Single submitter
p.Leu73= Single submitter
p.Leu80= Single submitter
p.Leu84= Single submitter
p.Lys207= Single submitter
p.Lys377= Single submitter
p.Phe86= Single submitter
p.Pro239= Single submitter
p.Pro266= Single submitter
p.Pro340= Single submitter
p.Pro9= Single submitter
p.Ser119= Single submitter
p.Ser184= Single submitter
p.Ser225= Single submitter permanent neonatal diabetes mellitus
p.Ser265= Single submitter
p.Ser383= Single submitter
p.Ser385= Single submitter
p.Ser388= Single submitter
p.Thr112= Single submitter
p.Thr171= Single submitter Inborn genetic diseases
p.Thr180= Single submitter
p.Thr345= Single submitter
p.Thr61= Single submitter
p.Thr71= Single submitter permanent neonatal diabetes mellitus
p.Tyr326= Single submitter
p.Tyr330= Single submitter
p.Val202= Single submitter
p.Val230= Single submitter
p.Val231= Single submitter
p.Val291= Single submitter
p.Val337Ile Single submitter
p.Val59Gly Single submitter transient neonatal diabetes mellitus
c.-508T>G No assertion criteria KCNJ11-related disorder
p.Ala22= No assertion criteria KCNJ11-related disorder

Uncertain significance 253

c.-134G>T Multiple submitters maturity-onset diabetes of the young
c.-150G>A Multiple submitters maturity-onset diabetes of the young
c.-179C>T Multiple submitters maturity-onset diabetes of the young type 13
c.-37C>T Multiple submitters maturity-onset diabetes of the young type 13
c.-424C>T Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
c.-515G>A Multiple submitters maturity-onset diabetes of the young type 13
c.-546G>T Multiple submitters maturity-onset diabetes of the young type 13
c.-54C>T Multiple submitters maturity-onset diabetes of the young
c.*1037G>T Multiple submitters maturity-onset diabetes of the young type 13
c.*1055T>A Multiple submitters maturity-onset diabetes of the young type 13
c.*1220G>A Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
c.*14G>A Multiple submitters maturity-onset diabetes of the young type 13
c.*1562A>G Multiple submitters maturity-onset diabetes of the young type 13
c.*218G>T Multiple submitters maturity-onset diabetes of the young
c.*311C>T Multiple submitters maturity-onset diabetes of the young type 13
c.*50G>A Multiple submitters maturity-onset diabetes of the young type 13
c.*546G>A Multiple submitters maturity-onset diabetes of the young type 13
c.*678C>T Multiple submitters maturity-onset diabetes of the young type 13
c.*701A>T Multiple submitters maturity-onset diabetes of the young type 13
c.*732C>T Multiple submitters maturity-onset diabetes of the young type 13
c.*842C>G Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
c.*849C>G Multiple submitters maturity-onset diabetes of the young type 13
c.*937C>T Multiple submitters maturity-onset diabetes of the young type 13
c.*99C>G Multiple submitters maturity-onset diabetes of the young type 13
p.Ala145Ser Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Ala174Asp Multiple submitters Neonatal hypoglycemia ⚠
p.Ala28Val Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Ala362Thr Multiple submitters maturity-onset diabetes of the young ⚠
p.Ala87Thr Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Arg16His Multiple submitters type 2 diabetes mellitus ⚠
p.Arg176Cys Multiple submitters KCNJ11-related disorder ⚠
p.Arg176His Multiple submitters maturity-onset diabetes of the young ⚠
p.Arg195del Multiple submitters maturity-onset diabetes of the young
p.Arg221Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg221His Multiple submitters hyperinsulinism ⚠
p.Arg27Cys Multiple submitters maturity-onset diabetes of the young ⚠
p.Arg29His Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Arg314His Multiple submitters maturity-onset diabetes of the young ⚠
p.Arg31Trp Multiple submitters maturity-onset diabetes of the young type 13 ⚠
p.Arg325Cys Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Arg325His Multiple submitters ⚠
p.Arg325Ser Multiple submitters type 2 diabetes mellitus ⚠
p.Arg347Cys Multiple submitters ⚠
p.Arg347His Multiple submitters maturity-onset diabetes of the young type 13 ⚠
p.Arg365Cys Multiple submitters maturity-onset diabetes of the young type 13 ⚠
p.Arg365His Multiple submitters maturity-onset diabetes of the young ⚠
p.Arg369Leu Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
p.Arg369Ser Multiple submitters type 2 diabetes mellitus ⚠
p.Arg4Cys Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Asp262Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp269Asn Multiple submitters ⚠
p.Asp274Gly Multiple submitters maturity-onset diabetes of the young ⚠
p.Asp323Gly Multiple submitters ⚠
p.Gln52= Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
p.Glu104Lys Multiple submitters ⚠
p.Gly312Ser Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Gly366Arg Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Gly98Ser Multiple submitters maturity-onset diabetes of the young ⚠
p.His115Arg Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Ile261Thr Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Ile49Met Multiple submitters Inborn genetic diseases ⚠
p.Leu144Val Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Leu181Phe Multiple submitters maturity-onset diabetes of the young ⚠
p.Leu355Pro Multiple submitters maturity-onset diabetes of the young type 13 ⚠
p.Lys222Gln Multiple submitters ⚠
p.Lys381_Phe382insProLys Multiple submitters hyperinsulinemic hypoglycemia, familial, 2
p.Met137Ile Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Met240Arg Multiple submitters maturity-onset diabetes of the young ⚠
p.Met375Val Multiple submitters maturity-onset diabetes of the young ⚠
p.Pro21Thr Multiple submitters type 1 diabetes mellitus ⚠
p.Pro317Ser Multiple submitters ⚠
p.Ser116Pro Multiple submitters maturity-onset diabetes of the young ⚠
p.Ser118Leu Multiple submitters hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Ser265Ile Multiple submitters KCNJ11-related disorder ⚠
p.Ser273Gly Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Ser327Tyr Multiple submitters maturity-onset diabetes of the young
p.Ser331Cys Multiple submitters maturity-onset diabetes of the young type 13 ⚠
p.Ser363Leu Multiple submitters
p.Ser82Asn Multiple submitters maturity-onset diabetes of the young ⚠
p.Thr112Asn Multiple submitters ⚠
p.Thr180Asn Multiple submitters maturity-onset diabetes of the young ⚠
p.Thr71Ile Multiple submitters diabetes mellitus, permanent neonatal 2 ⚠
p.Val155Met Multiple submitters diabetes mellitus ⚠
p.Val219Leu Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Val244Met Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
p.Val285Ile Multiple submitters maturity-onset diabetes of the young type 13 ⚠
p.Val339Gly Multiple submitters KCNJ11-related disorder ⚠
p.Val64Leu Multiple submitters diabetes mellitus, transient neonatal, 3 ⚠
c.-111C>T Single submitter
c.-134G>A Single submitter
c.-135_-134insCT Single submitter maturity-onset diabetes of the young
c.-154G>A Single submitter maturity-onset diabetes of the young
c.-216G>T Single submitter
c.-291G>T Single submitter
c.-314dup Single submitter
c.-507dup Single submitter
c.-606_-605delinsTT Single submitter
c.*13C>T Single submitter
c.*1415G>A Single submitter hyperinsulinemic hypoglycemia, familial, 2
c.*1415G>C Single submitter maturity-onset diabetes of the young
c.*826_*827dup Single submitter maturity-onset diabetes of the young
p.Ala161Thr Single submitter ⚠
p.Ala18Glu Single submitter ⚠
p.Ala22Thr Single submitter Inborn genetic diseases ⚠
p.Ala22Val Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Ala253Val Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Ala271Thr Single submitter ⚠
p.Ala346Val Single submitter ⚠
p.Ala376Ser Single submitter maturity-onset diabetes of the young ⚠
p.Ala96Val Single submitter permanent neonatal diabetes mellitus ⚠
p.Arg16Cys Single submitter diabetes mellitus, transient neonatal, 3
p.Arg176Gly Single submitter ⚠
p.Arg221Cys Single submitter maturity-onset diabetes of the young ⚠
p.Arg221Pro Single submitter ⚠
p.Arg31Gln Single submitter ⚠
p.Arg325Leu Single submitter ⚠
p.Arg32Gly Single submitter ⚠
p.Arg365Leu Single submitter ⚠
p.Arg365Ser Single submitter ⚠
p.Arg369Cys Single submitter maturity-onset diabetes of the young ⚠
p.Arg369His Single submitter ⚠
p.Arg371= Single submitter
p.Arg371His Single submitter maturity-onset diabetes of the young ⚠
p.Arg4His Single submitter ⚠
p.Arg4Ser Single submitter ⚠
p.Asn335Lys Single submitter maturity-onset diabetes of the young ⚠
p.Asn43Ser Single submitter ⚠
p.Asp204Asn Single submitter ⚠
p.Asp20Glu Single submitter ⚠
p.Asp329Asn Single submitter maturity-onset diabetes of the young type 13 ⚠
p.Asp352Glu Single submitter ⚠
p.Asp387Asn Single submitter ⚠
p.Asp58Glu Single submitter ⚠
p.Cys110Phe Single submitter maturity-onset diabetes of the young type 13 ⚠
p.Cys166Ter Single submitter maturity-onset diabetes of the young
p.Gln299Arg Single submitter ⚠
p.Gln299Leu Single submitter ⚠
p.Gln348His Single submitter ⚠
p.Gln52Pro Single submitter ⚠
p.Glu108Asp Single submitter Inborn genetic diseases ⚠
p.Glu179Val Single submitter ⚠
p.Glu322= Single submitter
p.Glu322Asp Single submitter ⚠
p.Glu357Asp Single submitter ⚠
p.Gly105Val Single submitter ⚠
p.Gly245Cys Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Gly246Ser Single submitter Inborn genetic diseases ⚠
p.Gly6Asp Single submitter
p.Gly98Asp Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.His115Leu Single submitter ⚠
p.His175= Single submitter maturity-onset diabetes of the young
p.His175Gln Single submitter maturity-onset diabetes of the young type 13 ⚠
p.His234Gln Single submitter Inborn genetic diseases ⚠
p.His259Asn Single submitter ⚠
p.His276_Leu281del Single submitter
p.His276Gln Single submitter permanent neonatal diabetes mellitus ⚠
p.His353Arg Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.His97fs Single submitter maturity-onset diabetes of the young
p.His97Gln Single submitter ⚠
p.His97Tyr Single submitter ⚠
p.Ile210Thr Single submitter ⚠
p.Ile210Val Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Ile238Asn Single submitter ⚠
p.Ile249= Single submitter
p.Ile249Val Single submitter ⚠
p.Ile283Asn Single submitter ⚠
p.Ile284del Single submitter
p.Ile318Val Single submitter ⚠
p.Leu122fs Single submitter maturity-onset diabetes of the young
p.Leu164His Single submitter ⚠
p.Leu164Ile Single submitter maturity-onset diabetes of the young ⚠
p.Leu205Phe Single submitter Inborn genetic diseases ⚠
p.Leu233Ile Single submitter maturity-onset diabetes of the young ⚠
p.Leu251Pro Single submitter ⚠
p.Leu270Met Single submitter diabetes mellitus, permanent neonatal 2 ⚠
p.Leu281del Single submitter maturity-onset diabetes of the young
p.Leu349Pro Single submitter hyperinsulinemic hypoglycemia, familial, 2 ⚠
p.Leu356fs Single submitter maturity-onset diabetes of the young
p.Lys207Asn Single submitter ⚠
p.Lys47Glu Single submitter ⚠
p.Met158Val Single submitter maturity-onset diabetes of the young ⚠
p.Met163Thr Single submitter ⚠
p.Met209Val Single submitter ⚠
p.Met217Thr Single submitter ⚠
p.Met240Ile Single submitter Inborn genetic diseases
p.Met240Thr Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Met375Ile Single submitter Inborn genetic diseases ⚠
p.Met375Leu Single submitter Inborn genetic diseases ⚠
p.Met77Val Single submitter ⚠
p.Met88Ile Single submitter maturity-onset diabetes of the young ⚠
p.Met88Val Single submitter ⚠
p.Phe133Tyr Single submitter ⚠
p.Phe315Leu Single submitter ⚠
p.Phe315Val Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Phe60Ser Single submitter ⚠
p.Phe60Tyr Single submitter hyperinsulinism ⚠
p.Phe75Tyr Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Phe79Leu Single submitter ⚠
p.Pro102Ser Single submitter Inborn genetic diseases ⚠
p.Pro109Ser Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Pro266Leu Single submitter maturity-onset diabetes of the young ⚠
p.Pro272Ser Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Pro340His Single submitter ⚠
p.Pro342Ser Single submitter ⚠
p.Pro374Arg Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Pro9Leu Single submitter Inborn genetic diseases ⚠
p.Ser103Arg Single submitter maturity-onset diabetes of the young ⚠
p.Ser208Arg Single submitter ⚠
p.Ser212Asn Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Ser225Ile Single submitter ⚠
p.Ser248Asn Single submitter Inborn genetic diseases ⚠
p.Ser331Tyr Single submitter ⚠
p.Ser354Gly Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Ser37Cys Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Ser385Phe Single submitter ⚠
p.Ser3Phe Single submitter type 2 diabetes mellitus
p.Thr106Ile Single submitter ⚠
p.Thr180Ile Single submitter ⚠
p.Thr214Ile Single submitter Inborn genetic diseases ⚠
p.Thr298del Single submitter maturity-onset diabetes of the young
p.Thr302Asn Single submitter maturity-onset diabetes of the young ⚠
p.Thr302Ile Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Thr345Ala Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Thr76Ala Single submitter ⚠
p.Trp83Ser Single submitter ⚠
p.Tyr258fs Single submitter maturity-onset diabetes of the young
p.Tyr268Phe Single submitter diabetes mellitus, transient neonatal, 3 ⚠
p.Tyr330Phe Single submitter ⚠
p.Val138Leu Single submitter
p.Val188Leu Single submitter Inborn genetic diseases ⚠
p.Val260Ile Single submitter ⚠
p.Val285Phe Single submitter ⚠
p.Val291Glu Single submitter ⚠
p.Val337Ala Single submitter Inborn genetic diseases ⚠
p.Val373_Met375delinsLeu Single submitter
c.-55_-53del No assertion criteria permanent neonatal diabetes mellitus
c.-6G>A No assertion criteria permanent neonatal diabetes mellitus
p.Ala253= No assertion criteria permanent neonatal diabetes mellitus
p.Ala364Val No assertion criteria KCNJ11-related disorder ⚠
p.Ala45Thr No assertion criteria KCNJ11-related disorder
p.Asp99Asn No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Cys142Trp No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Gly105= No assertion criteria permanent neonatal diabetes mellitus
p.Ile125Leu No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Ile154Val No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Leu191Pro No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Phe123Leu No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Pro109Arg No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Pro24Thr No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Pro9His No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Thr223= No assertion criteria permanent neonatal diabetes mellitus
p.Thr341Ile No assertion criteria permanent neonatal diabetes mellitus ⚠
p.Thr345Lys No assertion criteria permanent neonatal diabetes mellitus