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Links from MedGen

Items: 1 to 100 of 3465

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(D596fs +3 more)
Deletion
(frameshift variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(E204Q +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G177S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(R610K +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(E169D +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
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)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(E603K +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(S542N +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Deletion
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(V553I +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(K638E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(P670S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(D112E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(K449E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(N520S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR-AS1, LDLR
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(T221R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(T654A +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(A231V +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(D570H +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(N271D +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(S154R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(E101D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(D140V +1 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(N120K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(N641S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(R501S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(F362L +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(S197G +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(D174H +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(D152Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(K633N +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G146W +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR-AS1, LDLR
Insertion
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(P111S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(S404R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(L327V +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G214R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(Q171R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(A226V +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(P111R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(V628L +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(W322S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(Q664R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(E109D +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GLikely benign
MIR6886, LDLR
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G110E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(P130L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant +1 more)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR, MIR6886
Duplication
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Deletion
(intron variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(H488Y +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(M589V +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
Duplication
(splice donor variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G103V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(S325C +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
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)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, MIR6886
Microsatellite
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(V422I +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(A100T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR-AS1, LDLR
(P3T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(D433N +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(E188K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(N644S +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR
(Q125H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, familial, 1
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(T556A +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(S171C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(A542T +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
Deletion
(inframe_deletion)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR, LDLR-AS1
(A17T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GUncertain significance
LDLR
(G425D +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
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