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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR-AS1, LDLR
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
+2 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+1 more
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Deletion
(non-coding transcript variant)
Familial hypercholesterolemia
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+1 more
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
+3 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+1 more
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
+1 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
+1 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Deletion
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Deletion
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+1 more
GUncertain significance
LDLR-AS1, LDLR
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR-AS1, LDLR
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+1 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+2 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+1 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+2 more
GBenign/Likely benign
LDLR, LDLR-AS1
(W4fs)
Deletion
(non-coding transcript variant +2 more)
Hypercholesterolemia, familial, 1
+3 more
GPathogenic
LDLR, LDLR-AS1
(G2R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
(W10*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
+1 more
GPathogenic
LDLR-AS1, LDLR
(L14F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
(L16V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
(A19G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
(A19V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
+2 more
GUncertain significance
LDLR, LDLR-AS1
(G20R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GBenign
LDLR, LDLR-AS1
(G20E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR-AS1, LDLR
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
LDLR, LDLR-AS1
(A22S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
+1 more
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
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