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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLKB1
(S113fs +1 more)
Duplication
(frameshift variant +1 more)
Inherited prekallikrein deficiency
+1 more
GConflicting classifications of pathogenicity
KLKB1
(G135R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLKB1
(Q240P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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