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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD1
(K320I +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
AMPD1
(Q189H +2 more)
Single nucleotide variant
(missense variant)
Muscle AMP deaminase deficiency
+1 more
GConflicting classifications of pathogenicity