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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(E256K +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+6 more
GPathogenic
GCK
(V226M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(V182M +2 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GPathogenic
PAX4
(R45W)
Single nucleotide variant
(missense variant)
Hyperglycemia
+4 more
GConflicting classifications of pathogenicity
CEL
(A128V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCNJ11
(M137I +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
ABCC8
(G1478R +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GPathogenic/Likely pathogenic
ABCC8
(C418R +1 more)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+8 more
GConflicting classifications of pathogenicity
HNF1A
(R114H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
HNF1B
(G438S +1 more)
Single nucleotide variant
(missense variant +1 more)
Renal cysts and diabetes syndrome
+4 more
GUncertain significance
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