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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(S385C +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+7 more
GConflicting classifications of pathogenicity
KCNJ11
(V337I +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+5 more
GBenign/Likely benign
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)
Hyperinsulinemic hypoglycemia
+7 more
GConflicting classifications of pathogenicity
ABCC8, KCNJ11
(V1572I +3 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 3
+10 more
GConflicting classifications of pathogenicity
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