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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C8B
(V484I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C8B
(A428T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
C8B
(W390S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
C8B
(R428* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
C8B
(R242H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
C8B
(Q91* +2 more)
Single nucleotide variant
(nonsense)
C8B-related condition
+3 more
GPathogenic/Likely pathogenic
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