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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
LOC101927159, PTPRT
Deletion
Autism
GLikely pathogenic
LOC101927159, LOC126863032
+1 more
Copy number loss
See cases
GUncertain significance
LOC101927159, PTPRT
Copy number loss
See cases
GUncertain significance
LOC101927159, PTPRT
Deletion
Autism
GLikely pathogenic
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