U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 4555

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB, LOC106560211
Single nucleotide variant
Familial hypercholesterolemia
GBenign
APOB, LOC106560211
Single nucleotide variant
Familial hypercholesterolemia
GBenign
APOB, LOC106560211
Single nucleotide variant
Familial hypercholesterolemia
GBenign
APOB, LOC106560211
Single nucleotide variant
Familial hypercholesterolemia
GBenign
APOB, LOC106560211
Single nucleotide variant
Familial hypercholesterolemia
GBenign
APOB, LOC106560211
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GBenign
APOB
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GBenign
APOB
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GBenign
LDLR
Single nucleotide variant
(3 prime UTR variant)
Familial hypercholesterolemia
GBenign
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Duplication
Familial hypercholesterolemia
GLikely pathogenic
LDLR
Duplication
Familial hypercholesterolemia
GLikely pathogenic
LDLR
Duplication
Familial hypercholesterolemia
GLikely pathogenic
LDLR
Duplication
Familial hypercholesterolemia
GPathogenic
LDLR
Duplication
Familial hypercholesterolemia
GUncertain significance
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
C19orf38, CARM1
+7 more
Deletion
Familial hypercholesterolemia
GPathogenic
AP1M2, ATG4D
+29 more
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
LDLR
Deletion
Familial hypercholesterolemia
GPathogenic
APOB
(Y1851fs)
Deletion
(frameshift variant)
Familial hypercholesterolemia
GLikely pathogenic
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(A196T)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(E169D +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GLikely pathogenic
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
(T323A +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
LDLR
Duplication
(intron variant)
Familial hypercholesterolemia
GBenign
LDLR
Single nucleotide variant
(synonymous variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(D129G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(S285G +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(D301V +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GPathogenic
LDLR
(L571del +3 more)
Microsatellite
(inframe_deletion)
Familial hypercholesterolemia
GUncertain significance
LDLR
Single nucleotide variant
(synonymous variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Microsatellite
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(I628V +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+1 more
GUncertain significance
LDLR
(E312G +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(V851L +4 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
LDLR
(V268G +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GLikely pathogenic
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(M363T +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+1 more
GConflicting classifications of pathogenicity
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(synonymous variant)
Familial hypercholesterolemia
GLikely benign
LDLR, LDLR-AS1
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
GLikely benign
LDLR, LDLR-AS1
Single nucleotide variant
(synonymous variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Hypercholesterolemia, familial, 1
+1 more
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Deletion
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(P435R +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
(I496F +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
GUncertain significance
LDLR
(H649Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
GUncertain significance
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
GLikely benign
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial hypercholesterolemia
GLikely benign
LDLR
(Y147D +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
GUncertain significance
Format
Items per page
Sort by
Choose Destination