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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+201 more
Copy number loss
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
SERPINA3
(P242T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SERPINA3
(P252A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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