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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ACRV1, ARHGEF12
+255 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ARHGEF12, BLID
+184 more
Copy number loss
See cases
GPathogenic
GRAMD1B, LOC130006990
+1 more
Copy number gain
See cases
GLikely benign
ESAM, ESAM-AS1
+59 more
Copy number gain
See cases
GUncertain significance
ACAD8, ACRV1
+113 more
Copy number loss
See cases
GPathogenic
CCDC15, CDON
+108 more
Copy number loss
See cases
GPathogenic
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