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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAB21L1, NBEA
Copy number loss
not provided
GLikely pathogenic
MAB21L1, NBEA
Copy number loss
not provided
GPathogenic
ALG5, CCDC169
+22 more
Copy number loss
not provided
GPathogenic
ALG5, CCDC169
+26 more
Copy number gain
not provided
GUncertain significance
MAB21L1, NBEA
Copy number loss
not provided
GLikely pathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
NBEA
Copy number loss
not provided
GUncertain significance
NBEA
Copy number loss
not provided
GLikely pathogenic
NUDT15, NUFIP1
+211 more
Copy number gain
not provided
GPathogenic
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