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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
MIR6886, LDLR
Indel
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+2 more
GBenign
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
+1 more
GLikely benign
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+1 more
GLikely benign
MIR6886, LDLR
Deletion
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR, MIR6886
Deletion
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+1 more
GLikely benign
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+2 more
GConflicting classifications of pathogenicity
MIR6886, LDLR
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)
Familial hypercholesterolemia
+1 more
GConflicting classifications of pathogenicity
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
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