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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
Duplication
(inframe_insertion)
Maturity onset diabetes mellitus in young
+7 more
GUncertain significance
KCNJ11
(R371H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(R365H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(R365C +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
KCNJ11
(L356fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R347H +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+10 more
GUncertain significance
KCNJ11
(V339G +1 more)
Single nucleotide variant
(missense variant)
KCNJ11-related disorder
+6 more
GUncertain significance
KCNJ11
(G324R +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R301H +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 13
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(T294M +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemia
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(V285I +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+7 more
GUncertain significance
KCNJ11
(L281del +1 more)
Deletion
(inframe_deletion)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(P266L +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(Y258fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(M153fs +1 more)
Duplication
(frameshift variant)
Diabetes mellitus, transient neonatal, 3
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(R221H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+8 more
GUncertain significance
KCNJ11
(R206L +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R195H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(R192H +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(A187V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
KCNJ11
(R176H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+6 more
GUncertain significance
KCNJ11
(C166* +1 more)
Single nucleotide variant
(nonsense)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(V155M +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+8 more
GUncertain significance
KCNJ11
(R136H +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(L35fs +1 more)
Microsatellite
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 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)
Diabetes mellitus, transient neonatal, 3
+6 more
GUncertain significance
KCNJ11
(H97fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(M88I +1 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
KCNJ11
(G40D)
Single nucleotide variant
(missense variant +1 more)
Familial hyperinsulinism
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(R34C)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+5 more
GPathogenic/Likely pathogenic
KCNJ11
(R27H)
Single nucleotide variant
(missense variant +1 more)
KCNJ11-related disorder
+5 more
GConflicting classifications of pathogenicity
KCNJ11
(R27C)
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
+6 more
GUncertain significance
KCNJ11
Insertion
(5 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
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