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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
PDE11A, PDE11A-AS1
(P465fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(F344S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
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