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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(L147P +1 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(Q52*)
Single nucleotide variant
(nonsense +1 more)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity