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Links from MedGen

Items: 1 to 100 of 1875

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB
(S1608T)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(S3316C)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, LOC106560211
Deletion
(splice donor variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely pathogenic
APOB
(F2936V)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
GUncertain significance
APOB
(N3652S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(H1966Q)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(T3487I)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(L1366S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(Y4343*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(N2251S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(D3612G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Duplication
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB, LOC106560211
(G24D)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(N198S)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(R2534Q)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
Single nucleotide variant
(splice acceptor variant)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
(Y2189*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(P292S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(T353I)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
APOB
(P3129H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(T2001N)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(D208E)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(E4223K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(S3455P)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(E3236K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(R4177Q)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+2 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(R1646K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(P536T)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(A3175P)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(D2938G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GBenign
APOB
(D2388H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(R3291H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(T1084A)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(Q2183L)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
APOB
(D3914H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(V3600F)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(S1893I)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(M2508K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB, LOC106560211
(R45Q)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
APOB
(N2961I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(H2366Y)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(E1668Q)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(Q3595K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB, LOC106560211
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(A3780S)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(T3156A)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(S2783L)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GBenign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(N3635T)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
(A403T)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(L2298I)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB, APOB3'MAR
(L4539P)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB
(G493E)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GUncertain significance
APOB
Single nucleotide variant
(synonymous variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely benign
APOB, LOC106560211
Single nucleotide variant
(splice donor variant)
Hypercholesterolemia, autosomal dominant, type B
+1 more
GLikely pathogenic
APOB
(K2110fs)
Deletion
(frameshift variant)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
(V945F)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
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