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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ITGB2
(C403fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ITGB2
(R188* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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