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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APBA2, ARHGAP11B
+51 more
Copy number loss
See cases
GPathogenic
APBA2, ARHGAP11A-DT
+58 more
Copy number gain
See cases
GUncertain significance
FAN1, ARHGAP11B
+25 more
Copy number loss
See cases
GPathogenic
LINC02352, LINC03034
+10 more
Copy number gain
See cases
GBenign
LOC126862088, TRPM1
(Q1164fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC126862088, TRPM1
Single nucleotide variant
(intron variant)
not provided
GBenign
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