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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(M375V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNJ11
(R365C +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
KCNJ11
(D274G +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance
KCNJ11
(L270V +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Diabetes mellitus, permanent neonatal 2
+7 more
GConflicting classifications of pathogenicity
KCNJ11
(M240R +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance
KCNJ11
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R221G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNJ11
(R195del +1 more)
Microsatellite
(inframe_deletion)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance
KCNJ11
(V59M)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R27H)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 2
+5 more
GConflicting classifications of pathogenicity
ABCC8, KCNJ11
(K23E)
Single nucleotide variant
(missense variant +2 more)
Transient Neonatal Diabetes, Dominant
+9 more
GBenign/Likely benign
KCNJ11
(R4S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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