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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRAF
(G6fs)
Deletion
(frameshift variant)
Intellectual disability
GUncertain significance
SMARCA2
(G513D)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GLikely pathogenic
EMC10
(G96fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SHANK3
(V1432fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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