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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+2 more
GConflicting classifications of pathogenicity
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
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