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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS13
(G29*)
Single nucleotide variant
(nonsense)
Upshaw-Schulman syndrome
GPathogenic
ADAMTS13
(W1050* +1 more)
Single nucleotide variant
(nonsense +1 more)
Upshaw-Schulman syndrome
GPathogenic