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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHANK3
(I245T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
SHANK3
Single nucleotide variant
(intron variant)
Phelan-McDermid syndrome
GBenign