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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(G334D +1 more)
Single nucleotide variant
(missense variant)
Transitory neonatal diabetes mellitus
GBenign
KCNJ11
(F333I +1 more)
Single nucleotide variant
(missense variant)
Neonatal hypoglycemia
GBenign
KCNJ11
(Y330C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
KCNJ11
(E322K +1 more)
Single nucleotide variant
(missense variant)
Transitory neonatal diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
KCNJ11
(I296V +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
Gnot provided
KCNJ11
(I296L +1 more)
Single nucleotide variant
(missense variant)
sulfonylureas response
Gdrug response
KCNJ11
(V252A +1 more)
Single nucleotide variant
(missense variant)
Transitory neonatal diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(R201L +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
Gnot provided
KCNJ11
(R201H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+4 more
GConflicting classifications of pathogenicity
KCNJ11
(R201C +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(I182V +1 more)
Single nucleotide variant
(missense variant)
Transitory neonatal diabetes mellitus
GBenign
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
(I167L +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GBenign
KCNJ11
(C166Y +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
Gnot provided
KCNJ11
(C166F +1 more)
Single nucleotide variant
(missense variant)
Glibenclamide response
Gdrug response
KCNJ11
(V59G)
Single nucleotide variant
(intron variant +1 more)
Transitory neonatal diabetes mellitus
GLikely benign
KCNJ11
(V59M)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(G53D)
Single nucleotide variant
(missense variant +1 more)
Neonatal hypoglycemia
GBenign
KCNJ11
(G53R)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 3
GPathogenic
KCNJ11
(G53S)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
KCNJ11
(Q52R)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
GBenign
KCNJ11
(R50P)
Single nucleotide variant
(missense variant +1 more)
KCNJ11-Related Disorders
GPathogenic
KCNJ11
(C42R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(F35V)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
Gnot provided
KCNJ11
(F35L)
Single nucleotide variant
(missense variant +1 more)
Neonatal hypoglycemia
GBenign
ABCC8, KCNJ11
(K23E)
Single nucleotide variant
(missense variant +2 more)
Maturity onset diabetes mellitus in young
+9 more
GBenign/Likely benign
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