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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(W258* +2 more)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+2 more
GPathogenic
GCK
(C230R +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
GCK
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GCK
(A201S +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(R192Q +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+3 more
GConflicting classifications of pathogenicity
GCK
(V182M +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
+5 more
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Recessive
+8 more
GBenign/Likely benign
GCK
(E40K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GCK
(Q26* +2 more)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+2 more
GPathogenic/Likely pathogenic
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