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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(T71I)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 2
GUncertain significance
KCNJ11
(R54fs)
Duplication
(frameshift variant +1 more)
Diabetes mellitus, permanent neonatal 2
GLikely pathogenic
KCNJ11
(L262P +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+1 more
GUncertain significance
KCNJ11
(M137I +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
KCNJ11
(R282L +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
KCNJ11
(S118L +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
KCNJ11
(R34H)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GPathogenic/Likely pathogenic
KCNJ11
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia, familial, 2
+6 more
GLikely benign
KCNJ11
(K23E)
Inversion
(missense variant +2 more)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GLikely benign
KCNJ11
(R227H +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance
KCNJ11
(M158L +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+1 more
GUncertain significance
KCNJ11
(T215I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+4 more
GUncertain significance
KCNJ11
(R4C)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GUncertain significance
KCNJ11
(Q261H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+6 more
GUncertain significance
KCNJ11
(R221H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+8 more
GUncertain significance
KCNJ11
(R176H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+6 more
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance
KCNJ11
(R347H +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+10 more
GUncertain significance
KCNJ11
(V285I +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+7 more
GUncertain significance
KCNJ11
(R192H +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(G98S +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+6 more
GUncertain significance
KCNJ11
(R16H)
Single nucleotide variant
(missense variant +2 more)
Diabetes mellitus, transient neonatal, 3
+6 more
GUncertain significance
KCNJ11
(R136C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 13
+5 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+5 more
GUncertain significance
KCNJ11
(G312S +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
KCNJ11
(T294M +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemia
+6 more
GConflicting classifications of pathogenicity
KCNJ11
Duplication
(inframe_insertion)
Maturity onset diabetes mellitus in young
+7 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
KCNJ11
(L270V +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
KCNJ11
(E229K +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+3 more
GPathogenic/Likely risk allele
KCNJ11
(V155M +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+8 more
GUncertain significance
KCNJ11
(V337I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+5 more
GBenign/Likely benign
KCNJ11
(R50Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNJ11
(F60Y)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemia
GUncertain significance
KCNJ11
(G53D)
Single nucleotide variant
(missense variant +1 more)
Neonatal hypoglycemia
GBenign
KCNJ11
(I167L +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GBenign
KCNJ11
(C166F +1 more)
Single nucleotide variant
(missense variant)
Glibenclamide response
Gdrug response
KCNJ11
(K170N +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(K170R +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GLikely risk allele
KCNJ11
(R50P)
Single nucleotide variant
(missense variant +1 more)
KCNJ11-related disorder
GPathogenic
KCNJ11
(V59G)
Single nucleotide variant
(intron variant +1 more)
Transitory neonatal diabetes mellitus
GLikely benign
KCNJ11
(R201C +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+3 more
GPathogenic
KCNJ11
(V59M)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
+2 more
GPathogenic
KCNJ11
(R201H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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