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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
UFSP1, VGF
+299 more
Copy number gain
See cases
GPathogenic
ACTL6B, AGFG2
+229 more
Copy number loss
Multiple congenital anomalies/dysmorphic syndrome
GPathogenic
ACHE, ACTL6B
+309 more
Copy number loss
See cases
GPathogenic
CNPY4, COPS6
+227 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
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