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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFHR5
(M1V)
Single nucleotide variant
(missense variant +1 more)
CFHR5 deficiency
GUncertain significance
CFHR5
(E163fs)
Duplication
not provided
+3 more
GConflicting classifications of pathogenicity
CFHR5
(K562fs)
Deletion
(frameshift variant)
CFHR5 deficiency
GUncertain significance
CFHR5
(I567V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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