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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(M462I +4 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GLikely benign
GCK
(S453L +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
GCK
(T437I +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
GCK
(T341P +4 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GBenign
GCK
(E256K +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+5 more
GPathogenic
GCK
(G223S +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+6 more
GPathogenic
GCK
(V182M +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
+5 more
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 2
+8 more
GBenign/Likely benign
GCK
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+8 more
GBenign/Likely benign
GCK
(D4N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely benign
INS
Single nucleotide variant
Diabetes mellitus, permanent neonatal 4
+5 more
GConflicting classifications of pathogenicity
KCNJ11
Duplication
(inframe_insertion)
Diabetes mellitus, transient neonatal, 3
+7 more
GUncertain significance
KCNJ11
(R347H +1 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
KCNJ11
(V339G +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+6 more
GUncertain significance
KCNJ11
(R325S +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+5 more
GUncertain significance
KCNJ11
(T215I +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
KCNJ11
(V285I +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
KCNJ11
(E282K +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(R221H +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+8 more
GUncertain significance
KCNJ11
(R192H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(R176H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+6 more
GUncertain significance
KCNJ11
(V155M +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+8 more
GUncertain significance
KCNJ11
(G98S +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+6 more
GUncertain significance
KCNJ11
(R34H)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GPathogenic/Likely pathogenic
KCNJ11
(R4C)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
+6 more
GUncertain significance
ABCC8
(G1478R +3 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant hyperinsulinism due to SUR1 deficiency
+6 more
GPathogenic/Likely pathogenic
ABCC8
(D880N +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
ABCC8
(R836* +3 more)
Single nucleotide variant
(nonsense +1 more)
Permanent neonatal diabetes mellitus
+5 more
GPathogenic/Likely pathogenic
ABCC8
(W738C +2 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+7 more
GUncertain significance
ABCC8
(A736S +2 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+8 more
GUncertain significance
ABCC8
(A726T +2 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+6 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
Leucine-induced hypoglycemia
+7 more
GBenign
ABCC8
(C418R +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCC8-related condition
+8 more
GConflicting classifications of pathogenicity
ABCC8
(Y263D)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
not provided
+10 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Type 2 diabetes mellitus
+8 more
GBenign/Likely benign
ABCC8
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GConflicting classifications of pathogenicity
ABCC8
(R74Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
PDX1
(P63fs)
Deletion
(frameshift variant)
Maturity-onset diabetes of the young type 4
+4 more
GConflicting classifications of pathogenicity
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