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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC12, NBEAL2
Single nucleotide variant
(intron variant)
not provided
GBenign
NBEAL2, LOC129936658
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC12, NBEAL2
Single nucleotide variant
(intron variant)
not provided
GBenign
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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