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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD46
(C35Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CD46
(E118fs)
Duplication
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic