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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHANK3
(L1105fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
+1 more
GLikely pathogenic
SHANK3
(E1371del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance