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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
DOCK3
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
DOCK3
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
+1 more
GBenign
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