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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(V691del +4 more)
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic
PLA2G6
(R37*)
Single nucleotide variant
(nonsense +1 more)
PLA2G6-associated neurodegeneration
+4 more
GPathogenic