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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C8B
(R428* +2 more)
Single nucleotide variant
(nonsense)
Complement component 6 deficiency
+2 more
GPathogenic
C6
(Q544fs)
Microsatellite
(frameshift variant)
Complement component 6 deficiency
GLikely pathogenic
C6
(S36*)
Single nucleotide variant
(nonsense)
Complement component 6 deficiency
GPathogenic
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