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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SP9
(E378G)
Single nucleotide variant
(missense variant)
SP9-associated disorder
GPathogenic
SP9
(H406fs)
Deletion
(frameshift variant)
Convulsive status epilepticus
+5 more
GPathogenic