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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS13
(G1152R +3 more)
Single nucleotide variant
(missense variant +1 more)
Upshaw-Schulman syndrome
GPathogenic
ADAMTS13
Single nucleotide variant
(splice donor variant)
Upshaw-Schulman syndrome
GLikely pathogenic