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Links from MedGen

Items: 1 to 100 of 454

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Deletion
(intron variant)
Hypercholesterolemia, familial, 4
GBenign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(splice donor variant)
Hypercholesterolemia, familial, 4
GLikely pathogenic
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(splice donor variant)
Hypercholesterolemia, familial, 4
GLikely pathogenic
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
(L85V)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 4
GUncertain significance
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1, LOC129929773
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1, LOC129929773
Duplication
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Deletion
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1, LOC129929773
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
(L50fs)
Deletion
(frameshift variant)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1, LOC129929773
(Q20*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1, LOC129929773
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
(W172*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
(W35*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
(C148fs)
Deletion
(frameshift variant)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
(Q60*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1, LOC129929773
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
(A156fs)
Deletion
(frameshift variant)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1, LOC129929773
Microsatellite
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GBenign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Deletion
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 4
GLikely benign
LDLRAP1
(G190fs)
Microsatellite
(frameshift variant)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1, LOC129929773
(S6*)
Single nucleotide variant
(nonsense)
Hypercholesterolemia, familial, 4
GPathogenic
LDLRAP1
(M46I)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 4
GUncertain significance
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