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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
ANKS1A, FKBP5
+94 more
Duplication
not provided
GUncertain significance
KIFC1, LEMD2
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
LRRC1, LRRC73
+427 more
Copy number gain
not provided
GPathogenic
AIRN, BNIP5
+1028 more
Copy number gain
See cases
GPathogenic
PDE10A, PDE7B
+1028 more
Copy number gain
See cases
GPathogenic
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