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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
IRX5, IRX6
+189 more
Deletion
not provided
GPathogenic
ADGRG1, ADGRG3
+244 more
Copy number loss
See cases
GPathogenic
GNAO1, GNAO1-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
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