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Links from MedGen

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(H266R +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
GUncertain significance
KCNJ11
(L262P +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+1 more
GUncertain significance
KCNJ11
(K38E)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
GLikely pathogenic
KCNJ11
(M137I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+5 more
GUncertain significance
KCNJ11
(R282L +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GUncertain significance
KCNJ11
(S118L +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+5 more
GUncertain significance
KCNJ11
(R34H)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GPathogenic/Likely pathogenic
KCNJ11
(R119H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KCNJ11
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, permanent neonatal 2
+5 more
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
KCNJ11
(K23E)
Inversion
(missense variant +2 more)
not provided
+5 more
GLikely benign
KCNJ11
(A28V)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
GUncertain significance
KCNJ11
(R227H +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance
KCNJ11
(T215I +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
KCNJ11
(R4C)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GUncertain significance
KCNJ11
(T211del +1 more)
Microsatellite
(inframe_deletion)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
(Q261H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+6 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
(R31W)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
(V151M +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+2 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(L122P +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 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
KCNJ11
(M153fs +1 more)
Duplication
(frameshift variant)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(L356fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R371H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(M88I +1 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance
KCNJ11
(R347H +1 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
KCNJ11
(Y258fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(V285I +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+7 more
GUncertain significance
KCNJ11
(R192H +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(A101D +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(G98S +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GUncertain significance
KCNJ11
(R365H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(G40D)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(A187V +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
KCNJ11
(G324R +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Insertion
(5 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(V339G +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+6 more
GUncertain significance
KCNJ11
(R16H)
Single nucleotide variant
(missense variant +2 more)
Hyperinsulinemic hypoglycemia, familial, 2
+6 more
GUncertain significance
KCNJ11
(R325S +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GUncertain significance
KCNJ11
(R136C +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GPathogenic/Likely pathogenic
KCNJ11
(V290M +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemia
+2 more
GConflicting classifications of pathogenicity
ABCC8, KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Transient Neonatal Diabetes, Dominant
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(intron variant +1 more)
Maturity-onset diabetes of the young type 13
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
ABCC8, KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperinsulinism, Dominant/Recessive
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
ABCC8, KCNJ11
Single nucleotide variant
(intron variant +1 more)
Maturity-onset diabetes of the young type 13
+6 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GUncertain significance
KCNJ11
(H175Q +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+2 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
(T345M +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
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