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Links from MedGen

Items: 1 to 100 of 352

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(R34H)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GPathogenic/Likely pathogenic
KCNJ11
(R136fs +1 more)
Duplication
(frameshift variant)
Type 2 diabetes mellitus
+1 more
GPathogenic/Likely pathogenic
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(A103T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(T215I +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
KCNJ11
(N248K +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
(R282C +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
(V286M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(A289S +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
GUncertain significance
KCNJ11
(R4C)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(S103R +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
GCK
(T362I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance/Uncertain risk allele
KCNJ11
(E51fs)
Deletion
(frameshift variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
Transitory neonatal diabetes mellitus
+2 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
ABCC8
(G25V)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
(Y263D)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+5 more
GUncertain significance
ABCC8
(H661Y)
Single nucleotide variant
(intron variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
ABCC8
(W738C +2 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+7 more
GUncertain significance
ABCC8
(Y1294D +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
(L1328I +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Transitory neonatal diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
(I1455V +3 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Permanent neonatal diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCC8
(I196N)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
(P207L)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
ABCC8
(T548M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
(I245T)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Transitory neonatal diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GConflicting classifications of pathogenicity
ABCC8
(L427V +1 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GUncertain significance
ABCC8
(A736S +2 more)
Single nucleotide variant
(missense variant +1 more)
Leucine-induced hypoglycemia
+8 more
GUncertain significance
KCNJ11
(E205K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Transitory neonatal diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GCK
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Permanent neonatal diabetes mellitus
+7 more
GConflicting classifications of pathogenicity
ABCC8
(M115V)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+4 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(P9R)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely risk allele
KCNJ11
(Y258* +1 more)
Single nucleotide variant
(nonsense)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
GCK
(T437I +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
ABCC8
(T1068M +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+4 more
GConflicting classifications of pathogenicity
ABCC8
(K889T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(R136H +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+4 more
GConflicting classifications of pathogenicity
KCNJ11
(P266L +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(H97fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R34C)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
KCNJ11
(C166* +1 more)
Single nucleotide variant
(nonsense)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R221H +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
KCNJ11
(R206L +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(L35fs +1 more)
Microsatellite
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R176H +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance
KCNJ11
(L281del +1 more)
Deletion
(inframe_deletion)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
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