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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106694316, MPO
(M519fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC106694315, MPO
(W134*)
Single nucleotide variant
(nonsense)
Myeloperoxidase deficiency
GLikely pathogenic