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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC8
(A1456T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+1 more
GPathogenic
ABCC8
(R1214Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
ABCC8
(C87fs)
Microsatellite
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
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