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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD46, LOC129932405
(S13F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+2 more
GBenign
CD46, LOC129932405
(L28fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic