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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
OXA1L
Single nucleotide variant
(synonymous variant)
not provided
GBenign
OXA1L
(V91I)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
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