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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHANK3
Single nucleotide variant
(splice acceptor variant)
Phelan-McDermid syndrome
GPathogenic
SHANK3
(V1432fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
+2 more
GPathogenic