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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(V455E +5 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+1 more
GConflicting classifications of pathogenicity
GCK
(R392C +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GCK
(G261R +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GCK
(E256K +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+6 more
GPathogenic
GCK
Single nucleotide variant
(splice acceptor variant)
Monogenic diabetes
GCK
(G226R +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+1 more
GLikely pathogenic
GCK
(V226M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GCK
(V182M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GCK
(G161D +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
GPathogenic/Likely pathogenic
GCK
(G72R +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GCK
(R36W +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenicFDA Recognized
database
UCP2
(T164A +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
GLikely benign
HNF4A
(L319W +3 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
GUncertain significance
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