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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
LOC130002275, ABCA1
+1 more
Single nucleotide variant
not provided
+2 more
GBenign
ABCA1, LOC105376196
+1 more
Single nucleotide variant
Familial High Density Lipoprotein Deficiency
+2 more
GBenign
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