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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT3A
(C326* +3 more)
Single nucleotide variant
(nonsense +1 more)
Macrocephaly
+6 more
GPathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 1
+4 more
GPathogenic
MC3R
(T13A)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
MC3R
(F45S)
Single nucleotide variant
(missense variant)
MC3R-related condition
+1 more
GUncertain significance
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