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Links from MedGen

Items: 1 to 100 of 2514

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB
(N2982H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(Q1336R)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(F3613L)
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
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(L1060F)
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
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(N346K)
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
(T2254S)
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
(T3526fs)
Deletion
(frameshift variant)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
(Q3757*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
(A895T)
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
(S1460C)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(N3351D)
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
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, LOC106560211
Indel
(inframe_deletion)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(E4256Q)
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
(R1308K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(A1857F)
Indel
(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
(E3112D)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(T987fs)
Microsatellite
(frameshift variant)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
(T364I)
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
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(H596L)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(G1327*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(N3213K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GBenign
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB, APOB3'MAR
(Q4543*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(K216R)
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
LOC106560211, 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
(Q2455*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
(T2373fs)
Deletion
(frameshift variant)
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
GLikely benign
APOB
(A1643T)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(T248fs)
Deletion
(frameshift variant)
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
GLikely benign
APOB
(Y1367C)
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
(E4271Q)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(P3293T)
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
(E2531D)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, LOC106560211
Single nucleotide variant
(synonymous 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)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(E2458K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(A2478V)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(I3864V)
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
(S3203fs)
Duplication
(frameshift variant)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
Single nucleotide variant
(synonymous variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(K3097fs)
Deletion
(frameshift variant)
Familial hypobetalipoproteinemia 1
+1 more
GPathogenic
APOB
Deletion
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GBenign
APOB
(Y3771C)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(D1026G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(E331G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(N1810S)
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
(G2584V)
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)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(S2544C)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(D2635G)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(R3059P)
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
(D1309H)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(K2634N)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB, LOC106560211
(G66R)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(H3479N)
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
(Q2630K)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(T3526A)
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
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB, LOC106560211
Single nucleotide variant
(intron variant)
Familial hypobetalipoproteinemia 1
+1 more
GLikely benign
APOB
(G230S)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
APOB
(M1749I)
Single nucleotide variant
(missense variant)
Familial hypobetalipoproteinemia 1
+1 more
GUncertain significance
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