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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AMPD1
(M343I +2 more)
Single nucleotide variant
(missense variant)
Muscle AMP deaminase deficiency
+2 more
GConflicting classifications of pathogenicity
AMPD1
(P81L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity; other
AMPD1
(Q45*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity; other
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