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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(E256K +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
+6 more
GPathogenic
GCK
(V226M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GCK
(V182M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
PAX4
(R45W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CEL
(A128V)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
KCNJ11
(M137I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+5 more
GUncertain significance
ABCC8
(G1478R +3 more)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+6 more
GPathogenic/Likely pathogenic
ABCC8
(S1275fs +3 more)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCC8
(C418R +1 more)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+9 more
GConflicting classifications of pathogenicity
HNF1A
(R114H)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
HNF1A
(Q176*)
Single nucleotide variant
(nonsense)
Monogenic diabetes
HNF1A
(R200W)
Single nucleotide variant
(missense variant)
Monogenic diabetes
HNF1B
(G438S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
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