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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C9
(A529T)
Single nucleotide variant
(missense variant)
Age related macular degeneration 15
+2 more
GConflicting classifications of pathogenicity
C9
(M484K)
Single nucleotide variant
(missense variant)
Complement component 9 deficiency
+2 more
GConflicting classifications of pathogenicity
C9
(V449A)
Single nucleotide variant
(missense variant)
Complement component 9 deficiency
+1 more
GUncertain significance
C9
(S347fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
C9
(C119G)
Single nucleotide variant
(missense variant)
Age related macular degeneration 15
+2 more
GConflicting classifications of pathogenicity
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