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Items: 1 to 100 of 472

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
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
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
(3 prime UTR variant)
Maturity-onset diabetes of the young type 13
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
not provided
+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)
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)
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 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 mellitus in young
+3 more
GUncertain significance
KCNJ11
Duplication
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 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)
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)
Maturity-onset diabetes of the young type 13
+4 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
not provided
+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)
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)
Maturity onset diabetes mellitus in young
+5 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Type 2 diabetes mellitus
+4 more
GBenign/Likely benign
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
+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)
Hyperinsulinemic hypoglycemia, familial, 2
+3 more
GUncertain significance
KCNJ11
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 2
+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
(synonymous variant)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(S298F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
(S385C +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
Duplication
(inframe_insertion)
Diabetes mellitus, transient neonatal, 3
+7 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 13
+5 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(A289S +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
(M375V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNJ11
(V286M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(R371H +1 more)
Single nucleotide variant
(missense variant)
Permanent neonatal diabetes mellitus
+3 more
GUncertain significance
KCNJ11
(R282H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
(R282L +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
KCNJ11
(R282C +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
(G366R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(R365L +1 more)
Single nucleotide variant
(missense variant)
not provided
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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(A277V +1 more)
Single nucleotide variant
(missense variant)
KCNJ11-related condition
GUncertain significance
KCNJ11
(S276L +1 more)
Inversion
(missense variant)
KCNJ11-related condition
+1 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(A362T +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(L356fs +1 more)
Duplication
(frameshift variant)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(L355P +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+4 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(H266R +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
GUncertain significance
KCNJ11
(D265E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
(L262P +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+1 more
GUncertain significance
KCNJ11
(Q261H +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+6 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(R347H +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+10 more
GUncertain significance
KCNJ11
(R347C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
(A259V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(T345M +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 13
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(P255S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(P253H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(V339G +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 2
+6 more
GUncertain significance
KCNJ11
(V250I +1 more)
Indel
(missense variant)
not provided
GLikely benign
KCNJ11
(V337I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 3
+5 more
GBenign/Likely benign
KCNJ11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNJ11
(N248K +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance
KCNJ11
(G247V +1 more)
Single nucleotide variant
(missense variant)
Neonatal diabetes mellitus
GLikely pathogenic
KCNJ11
(G334D +1 more)
Single nucleotide variant
(missense variant)
Transitory neonatal diabetes mellitus
GBenign
KCNJ11
(F333I +1 more)
Single nucleotide variant
(missense variant)
Neonatal hypoglycemia
GBenign
KCNJ11
(K245fs +1 more)
Duplication
(frameshift variant)
Type 2 diabetes mellitus
GLikely pathogenic
KCNJ11
(S244fs +1 more)
Deletion
(frameshift variant)
Type 2 diabetes mellitus
GLikely pathogenic
KCNJ11
(S244C +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 13
+2 more
GUncertain significance
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