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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INS, INS-IGF2
(P9R)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely risk allele
KCNJ11
(R50P)
Single nucleotide variant
(missense variant +1 more)
KCNJ11-related disorder
GPathogenic
ABCC8
(R836* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GPathogenic/Likely pathogenic
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