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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
AACS, ATP6V0A2
+292 more
Copy number loss
See cases
GPathogenic
UBC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBC
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
UBC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
UBC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
UBC
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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