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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
LOC129390924, LOC129390925
+59 more
Copy number loss
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
CASC17, KCNJ16
+18 more
Copy number loss
See cases
GUncertain significance
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
CASC17, KCNJ16
+12 more
Copy number gain
See cases
GLikely benign
KCNJ16, KCNJ2
+7 more
Copy number gain
See cases
GUncertain significance
CASC17, LOC108004545
+10 more
Deletion
Acampomelic campomelic dysplasia with autosomal sex reversal
GPathogenic
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