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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ARHGAP32
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACAD8, ACRV1
+113 more
Copy number loss
See cases
GPathogenic
NTM, NFRKB
+32 more
Copy number loss
See cases
GPathogenic
CCDC15, CDON
+108 more
Copy number loss
See cases
GPathogenic
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