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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNNM4
(I232fs)
Deletion
(frameshift variant)
Jalili syndrome
GLikely pathogenic
CNNM4
(L438fs)
Duplication
(frameshift variant)
Jalili syndrome
GLikely pathogenic
ANKRD36B, ANKRD39
+20 more
Deletion
Intellectual disability
GPathogenic
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