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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AK2
(M68V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AK2, LOC129930068
(G27R)
Single nucleotide variant
(missense variant +2 more)
Reticular dysgenesis
+1 more
GUncertain significance