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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCK
(M1L)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinism due to glucokinase deficiency
GLikely benign
GCK
(M40fs +2 more)
Insertion
(frameshift variant)
Hyperinsulinism due to glucokinase deficiency
+3 more
GLikely pathogenic
GCK
(D77Y +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
+3 more
GUncertain significance
GCK
(N230I +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GUncertain significance
GCK
(E92A +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GUncertain significance
GCK
Single nucleotide variant
(intron variant)
Permanent neonatal diabetes mellitus 1
+4 more
GBenign/Likely benign
GCK
(K89T +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
GLikely pathogenic
GCK
Single nucleotide variant
(intron variant)
not provided
+4 more
GLikely benign
GCK
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+5 more
GLikely benign
GCK
(E47K +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely benign
GCK
Single nucleotide variant
(intron variant)
GCK-related disorder
+5 more
GConflicting classifications of pathogenicity
GCK
(C219* +2 more)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
GCK
(M139L +2 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
GCK
(R35Q +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+5 more
GUncertain significance/Uncertain risk allele
GCK
(D133N +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+4 more
GUncertain significance
GCK
Single nucleotide variant
(5 prime UTR variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
(D4N)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely benign
GCK
(D218N +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
GCK
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
(E421G +5 more)
Single nucleotide variant
(missense variant)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 2
+6 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
Hyperinsulinism due to glucokinase deficiency
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(5 prime UTR variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Recessive
+5 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Recessive
+5 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
Single nucleotide variant
(5 prime UTR variant)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
Single nucleotide variant
(5 prime UTR variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign
GCK
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Recessive
+4 more
GUncertain significance/Uncertain risk allele
GCK
(T341P +4 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GBenign
GCK
(V373L +4 more)
Single nucleotide variant
(missense variant +1 more)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
(V102M +2 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+4 more
GUncertain significance
GCK
(E278G +2 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 2
+6 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+5 more
GBenign/Likely benign
GCK
(V203A +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(T437I +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
GCK
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+6 more
GBenign/Likely benign
GCK
(L385fs +5 more)
Deletion
(frameshift variant)
Type 2 diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
GCK
(H317Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinism due to glucokinase deficiency
+5 more
GConflicting classifications of pathogenicity
GCK
(E265K +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
+4 more
GPathogenic
GCK
(E216K +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
GCK
(E157K +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
GCK
(G223S +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+6 more
GPathogenic
GCK
(V389L +5 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
GPathogenic
GCK
Microsatellite
(inframe_insertion)
Hyperinsulinism due to glucokinase deficiency
+1 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
Permanent neonatal diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(5 prime UTR variant)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
GCK
(R447Q +5 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+4 more
GPathogenic/Likely pathogenic
GCK
(R191W +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+6 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
Maturity-onset diabetes of the young type 2
+6 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Recessive
+3 more
GUncertain significance
GCK
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
+3 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+4 more
GBenign/Likely benign
GCK
(E256K +2 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperinsulinism due to glucokinase deficiency
+5 more
GConflicting classifications of pathogenicity
GCK
(E279Q +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GBenign
GCK
(D262N +2 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance/Uncertain risk allele
GCK
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Recessive
+8 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign
GCK
(V182M +2 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GPathogenic
GCK
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign/Likely benign
GCK
(K291* +2 more)
Single nucleotide variant
(nonsense +1 more)
Diabetes mellitus
+5 more
GPathogenic/Likely pathogenic
GCK
(V226M +2 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
Hyperinsulinism due to glucokinase deficiency
+7 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
Permanent neonatal diabetes mellitus
+6 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(intron variant)
Hyperinsulinism due to glucokinase deficiency
+6 more
GConflicting classifications of pathogenicity
GCK
(M462I +4 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GLikely benign
GCK
(S453L +5 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+5 more
GPathogenic/Likely pathogenic
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