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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SON
(Y1013*)
Duplication
(nonsense +2 more)
not provided
GPathogenic
SON
(P1150fs)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
SON
Deletion
(nonsense +2 more)
not provided
GPathogenic
SON
(L1666fs)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
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