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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
CAMKV
Single nucleotide variant
(intron variant)
not provided
GBenign
CAMKV
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CAMKV
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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