FDB
MCID: HYP734
MIFTS: 45

Hypercholesterolemia, Autosomal Dominant, Type B (FDB)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypercholesterolemia, Autosomal Dominant, Type B

MalaCards integrated aliases for Hypercholesterolemia, Autosomal Dominant, Type B:

Name: Hypercholesterolemia, Autosomal Dominant, Type B 58 30 6 41
Hypercholesterolemia, Due to Ligand-Defective Apo B 58 13
Familial Ligand-Defective Apolipoprotein B-100 54 76
Apolipoprotein B-100, Familial Defective 58 56
Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B 58
Familial Hypercholesterolemia Due to Ligand-Defective 54
Apolipoprotein B-100, Familial Ligand-Defective 58
Autosomal Dominant Type B Hypercholesterolemia 54
Familial Defective Apolipoprotein B-100 54
Hyperlipoproteinemia, Type 2 a 54
Hyperlipoproteinemia Type Iib 74
Fdb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hypercholesterolemia, autosomal dominant, type b:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypercholesterolemia, Autosomal Dominant, Type B

UniProtKB/Swiss-Prot : 76 Familial ligand-defective apolipoprotein B-100: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.

MalaCards based summary : Hypercholesterolemia, Autosomal Dominant, Type B, also known as hypercholesterolemia, due to ligand-defective apo b, is related to defective apolipoprotein b-100 and hypercholesterolemia, familial. An important gene associated with Hypercholesterolemia, Autosomal Dominant, Type B is APOB (Apolipoprotein B), and among its related pathways/superpathways are Vesicle-mediated transport and Metabolism of water-soluble vitamins and cofactors. The drugs Calcium and Rosuvastatin Calcium have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are hypercholesterolemia and xanthelasma

Description from OMIM: 144010

Related Diseases for Hypercholesterolemia, Autosomal Dominant, Type B

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Recessive

Diseases related to Hypercholesterolemia, Autosomal Dominant, Type B via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 42, show less)
# Related Disease Score Top Affiliating Genes
1 defective apolipoprotein b-100 30.4 APOB APOE LDLR
2 hypercholesterolemia, familial 29.6 APOB APOE LDLR
3 myocardial infarction 29.5 APOB APOE LDLR
4 arteries, anomalies of 29.5 APOB APOE LDLR
5 coronary heart disease 1 29.4 APOB APOE LDLR
6 heart disease 29.4 APOB APOE LDLR
7 coronary artery anomaly 10.1
8 hypothyroidism 10.1
9 xanthoma disseminatum 10.0 APOB APOE
10 huntington disease-like 1 10.0 APOB APOE
11 hyperlipoproteinemia, type v 10.0 APOB APOE
12 leukodystrophy, hypomyelinating, 3 10.0 APOB APOE
13 schnyder corneal dystrophy 10.0 APOB APOE
14 ischemic heart disease 10.0 APOB APOE
15 hypolipoproteinemia 10.0 APOB APOE
16 hypertriglyceridemia, familial 9.9 APOB APOE
17 coronary stenosis 9.9 APOB APOE
18 carotid artery disease 9.9 APOB APOE
19 gallbladder disease 9.9 APOB APOE
20 tangier disease 9.9 APOB APOE
21 aortic atherosclerosis 9.8 APOE LDLR
22 arteriosclerosis 9.8 APOB APOE
23 smith-lemli-opitz syndrome 9.8 APOE LDLR
24 macular degeneration, age-related, 1 9.8 APOB APOE
25 hypoalphalipoproteinemia, primary 9.8 APOB LDLR
26 stroke, ischemic 9.6 APOB APOE
27 hepatitis c virus 9.6 APOE LDLR
28 lipoprotein glomerulopathy 9.6 APOB APOE LDLR
29 sea-blue histiocyte disease 9.6 APOB APOE LDLR
30 homozygous familial hypercholesterolemia 9.6 APOB APOE LDLR
31 xanthomatosis 9.6 APOB APOE LDLR
32 hyperlipoproteinemia, type iii 9.6 APOB APOE LDLR
33 arcus corneae 9.5 APOB APOE LDLR
34 hyperalphalipoproteinemia 1 9.5 APOB APOE LDLR
35 lecithin:cholesterol acyltransferase deficiency 9.5 APOB APOE LDLR
36 abetalipoproteinemia 9.5 APOB APOE LDLR
37 familial hyperlipidemia 9.5 APOB APOE LDLR
38 lipid metabolism disorder 9.5 APOB APOE LDLR
39 atherosclerosis susceptibility 9.5 APOB APOE LDLR
40 cerebrovascular disease 9.5 APOB APOE LDLR
41 vascular disease 9.5 APOB APOE LDLR
42 body mass index quantitative trait locus 11 9.5 APOB APOE LDLR

Graphical network of the top 20 diseases related to Hypercholesterolemia, Autosomal Dominant, Type B:



Diseases related to Hypercholesterolemia, Autosomal Dominant, Type B

Symptoms & Phenotypes for Hypercholesterolemia, Autosomal Dominant, Type B

Human phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B:

33 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 33 HP:0003124
2 xanthelasma 33 HP:0001114
3 corneal arcus 33 HP:0001084
4 coronary artery atherosclerosis 33 HP:0001677

Symptoms via clinical synopsis from OMIM:

58
Lab:
hypercholesterolemia
abnormal ldl

Cardiac:
coronary artery disease

Eyes:
xanthelasma
corneal arcus

Skin:
planar xanthomas in homozygotes
tendinous xanthomas

Clinical features from OMIM:

144010

GenomeRNAi Phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

27 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.13 APOB APOE LDLR
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR

MGI Mouse Phenotypes related to Hypercholesterolemia, Autosomal Dominant, Type B:

47 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.43 APOB APOE LDLR
2 muscle MP:0005369 9.33 APOB APOE LDLR
3 pigmentation MP:0001186 9.13 APOB APOE LDLR
4 vision/eye MP:0005391 8.8 APOB APOE LDLR

Drugs & Therapeutics for Hypercholesterolemia, Autosomal Dominant, Type B

Drugs for Hypercholesterolemia, Autosomal Dominant, Type B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 9, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
2 Rosuvastatin Calcium Phase 4 147098-20-2
3 Hypolipidemic Agents Phase 4,Phase 2
4 Antimetabolites Phase 4,Phase 2
5 Lipid Regulating Agents Phase 4,Phase 2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
7 Anticholesteremic Agents Phase 4,Phase 2
8 Calcium, Dietary Phase 4
9
Atorvastatin Approved Phase 2 134523-00-5 60823

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
2 Study of the Safety and Tolerability Associated With PPD10558 Versus Atorvastatin in Patients Previously Intolerant to Statins Due to Statin-associated Myalgia (SAM) Completed NCT01279590 Phase 2 PPD10558;Atorvastatin;Placebo

Search NIH Clinical Center for Hypercholesterolemia, Autosomal Dominant, Type B

Genetic Tests for Hypercholesterolemia, Autosomal Dominant, Type B

Genetic tests related to Hypercholesterolemia, Autosomal Dominant, Type B:

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Dominant, Type B 30 APOB

Anatomical Context for Hypercholesterolemia, Autosomal Dominant, Type B

MalaCards organs/tissues related to Hypercholesterolemia, Autosomal Dominant, Type B:

42
Heart, Skin

Publications for Hypercholesterolemia, Autosomal Dominant, Type B

Articles related to Hypercholesterolemia, Autosomal Dominant, Type B:

(showing 3, show less)
# Title Authors Year
1
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. ( 18325181 )
2008
2
Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. ( 9105560 )
1997
3
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population. ( 9259199 )
1997

Variations for Hypercholesterolemia, Autosomal Dominant, Type B

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Autosomal Dominant, Type B:

76 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 APOB p.Arg3527Gln VAR_005025 rs5742904
2 APOB p.Arg3558Cys VAR_005026 rs12713559

ClinVar genetic disease variations for Hypercholesterolemia, Autosomal Dominant, Type B:

6 (showing 584, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh37 Chromosome 2, 21229160: 21229160
2 APOB NM_000384.2(APOB): c.10580G> A (p.Arg3527Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs5742904 GRCh38 Chromosome 2, 21006288: 21006288
3 APOB NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys) single nucleotide variant Uncertain significance rs12713559 GRCh37 Chromosome 2, 21229068: 21229068
4 APOB NM_000384.2(APOB): c.10672C> T (p.Arg3558Cys) single nucleotide variant Uncertain significance rs12713559 GRCh38 Chromosome 2, 21006196: 21006196
5 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 GRCh37 Chromosome 2, 21229161: 21229161
6 APOB NM_000384.2(APOB): c.10579C> T (p.Arg3527Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144467873 GRCh38 Chromosome 2, 21006289: 21006289
7 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 GRCh37 Chromosome 2, 21230565: 21230565
8 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 GRCh38 Chromosome 2, 21007693: 21007693
9 APOB NM_000384.2(APOB): c.9175C> T (p.Arg3059Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146377316 NCBI36 Chromosome 2, 21084070: 21084070
10 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 GRCh37 Chromosome 2, 21226042: 21226042
11 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 GRCh38 Chromosome 2, 21003170: 21003170
12 APOB NM_000384.2(APOB): c.12252T> C (p.Tyr4084=) single nucleotide variant Conflicting interpretations of pathogenicity rs138157751 NCBI36 Chromosome 2, 21079547: 21079547
13 APOB NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 GRCh37 Chromosome 2, 21224853: 21224853
14 APOB NM_000384.2(APOB): c.13441G> A (p.Ala4481Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801695 GRCh38 Chromosome 2, 21001981: 21001981
15 APOB NM_000384.2(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 GRCh37 Chromosome 2, 21249716: 21249716
16 APOB NM_000384.2(APOB): c.2188G> A (p.Val730Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs12691202 GRCh38 Chromosome 2, 21026844: 21026844
17 APOB NM_000384.2(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 GRCh37 Chromosome 2, 21233972: 21233972
18 APOB NM_000384.2(APOB): c.5768A> G (p.His1923Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs533617 GRCh38 Chromosome 2, 21011100: 21011100
19 APOB NM_000384.2(APOB): c.6936C> T (p.Asp2312=) single nucleotide variant Benign/Likely benign rs1041968 GRCh37 Chromosome 2, 21232804: 21232804
20 APOB NM_000384.2(APOB): c.6936C> T (p.Asp2312=) single nucleotide variant Benign/Likely benign rs1041968 GRCh38 Chromosome 2, 21009932: 21009932
21 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh37 Chromosome 2, 21229446: 21229446
22 APOB NM_000384.2(APOB): c.10294C> G (p.Gln3432Glu) single nucleotide variant Benign/Likely benign rs1042023 GRCh38 Chromosome 2, 21006574: 21006574
23 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh37 Chromosome 2, 21229553: 21229553
24 APOB NM_000384.2(APOB): c.10187C> A (p.Ala3396Asp) single nucleotide variant Likely pathogenic rs730880052 GRCh38 Chromosome 2, 21006681: 21006681
25 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh37 Chromosome 2, 21233099: 21233101
26 APOB NM_000384.2(APOB): c.6639_6641delTGA (p.Asp2213del) deletion Conflicting interpretations of pathogenicity rs541497967 GRCh38 Chromosome 2, 21010227: 21010229
27 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh38 Chromosome 2, 21009172: 21009172
28 APOB NM_000384.2(APOB): c.7696G> A (p.Glu2566Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1801696 GRCh37 Chromosome 2, 21232044: 21232044
29 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh38 Chromosome 2, 21011802: 21011802
30 APOB NM_000384.2(APOB): c.5066G> A (p.Arg1689His) single nucleotide variant Conflicting interpretations of pathogenicity rs151009667 GRCh37 Chromosome 2, 21234674: 21234674
31 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh38 Chromosome 2, 21023544: 21023544
32 APOB NM_000384.2(APOB): c.2585T> C (p.Val862Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145142090 GRCh37 Chromosome 2, 21246416: 21246416
33 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh37 Chromosome 2, 21251367: 21251367
34 APOB NM_000384.2(APOB): c.1661C> T (p.Pro554Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714214 GRCh38 Chromosome 2, 21028495: 21028495
35 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh37 Chromosome 2, 21255280: 21255280
36 APOB NM_000384.2(APOB): c.1298C> T (p.Ala433Val) single nucleotide variant Likely benign rs13306190 GRCh38 Chromosome 2, 21032408: 21032408
37 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh38 Chromosome 2, 21007033: 21007033
38 APOB NM_000384.2(APOB): c.9835A> G (p.Ser3279Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs12720854 GRCh37 Chromosome 2, 21229905: 21229905
39 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh37 Chromosome 2, 21231278: 21231278
40 APOB NM_000384.2(APOB): c.8462C> T (p.Pro2821Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72653095 GRCh38 Chromosome 2, 21008406: 21008406
41 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh37 Chromosome 2, 21231387: 21231387
42 APOB NM_000384.2(APOB): c.8353A> C (p.Asn2785His) single nucleotide variant Conflicting interpretations of pathogenicity rs2163204 GRCh38 Chromosome 2, 21008515: 21008515
43 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh37 Chromosome 2, 21232455: 21232455
44 APOB NM_000384.2(APOB): c.7285T> A (p.Ser2429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653092 GRCh38 Chromosome 2, 21009583: 21009583
45 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh37 Chromosome 2, 21233999: 21233999
46 APOB NM_000384.2(APOB): c.5741A> G (p.Asn1914Ser) single nucleotide variant Benign/Likely benign rs1801699 GRCh38 Chromosome 2, 21011127: 21011127
47 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh37 Chromosome 2, 21236070: 21236070
48 APOB NM_000384.2(APOB): c.4178C> T (p.Ala1393Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143282164 GRCh38 Chromosome 2, 21013198: 21013198
49 APOB NM_000384.2(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 GRCh37 Chromosome 2, 21238007: 21238007
50 APOB NM_000384.2(APOB): c.3634C> A (p.Leu1212Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736761 GRCh38 Chromosome 2, 21015135: 21015135
51 APOB NM_000384.2(APOB): c.3337G> C (p.Asp1113His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713844 GRCh37 Chromosome 2, 21238413: 21238413
52 APOB NM_000384.2(APOB): c.3337G> C (p.Asp1113His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713844 GRCh38 Chromosome 2, 21015541: 21015541
53 APOB NM_000384.2(APOB): c.2222C> A (p.Thr741Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12714192 GRCh37 Chromosome 2, 21249682: 21249682
54 APOB NM_000384.2(APOB): c.2222C> A (p.Thr741Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12714192 GRCh38 Chromosome 2, 21026810: 21026810
55 APOB NM_000384.2(APOB): c.606A> T (p.Glu202Asp) single nucleotide variant Benign/Likely benign rs61746672 GRCh37 Chromosome 2, 21260059: 21260059
56 APOB NM_000384.2(APOB): c.606A> T (p.Glu202Asp) single nucleotide variant Benign/Likely benign rs61746672 GRCh38 Chromosome 2, 21037187: 21037187
57 APOB NM_000384.2(APOB): c.13448C> T (p.Ala4483Val) single nucleotide variant Uncertain significance rs147416761 GRCh37 Chromosome 2, 21224846: 21224846
58 APOB NM_000384.2(APOB): c.13448C> T (p.Ala4483Val) single nucleotide variant Uncertain significance rs147416761 GRCh38 Chromosome 2, 21001974: 21001974
59 APOB NM_000384.2(APOB): c.12940A> G (p.Ile4314Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72654423 GRCh37 Chromosome 2, 21225354: 21225354
60 APOB NM_000384.2(APOB): c.12940A> G (p.Ile4314Val) single nucleotide variant Conflicting interpretations of pathogenicity rs72654423 GRCh38 Chromosome 2, 21002482: 21002482
61 APOB NM_000384.2(APOB): c.12794T> C (p.Val4265Ala) single nucleotide variant Benign/Likely benign rs61743502 GRCh37 Chromosome 2, 21225500: 21225500
62 APOB NM_000384.2(APOB): c.12794T> C (p.Val4265Ala) single nucleotide variant Benign/Likely benign rs61743502 GRCh38 Chromosome 2, 21002628: 21002628
63 APOB NM_000384.2(APOB): c.12021C> A (p.Gly4007=) single nucleotide variant Likely benign rs145498491 GRCh37 Chromosome 2, 21227207: 21227207
64 APOB NM_000384.2(APOB): c.12021C> A (p.Gly4007=) single nucleotide variant Likely benign rs145498491 GRCh38 Chromosome 2, 21004335: 21004335
65 APOB NM_000384.2(APOB): c.11966G> A (p.Arg3989His) single nucleotide variant Uncertain significance rs148197354 GRCh37 Chromosome 2, 21227262: 21227262
66 APOB NM_000384.2(APOB): c.11966G> A (p.Arg3989His) single nucleotide variant Uncertain significance rs148197354 GRCh38 Chromosome 2, 21004390: 21004390
67 APOB NM_000384.2(APOB): c.11477C> T (p.Thr3826Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61744153 GRCh37 Chromosome 2, 21228263: 21228263
68 APOB NM_000384.2(APOB): c.11477C> T (p.Thr3826Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61744153 GRCh38 Chromosome 2, 21005391: 21005391
69 APOB NM_000384.2(APOB): c.11401T> A (p.Ser3801Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12713540 GRCh37 Chromosome 2, 21228339: 21228339
70 APOB NM_000384.2(APOB): c.11401T> A (p.Ser3801Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12713540 GRCh38 Chromosome 2, 21005467: 21005467
71 APOB NM_000384.2(APOB): c.10520G> C (p.Arg3507Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201156840 GRCh38 Chromosome 2, 21006348: 21006348
72 APOB NM_000384.2(APOB): c.10520G> C (p.Arg3507Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201156840 GRCh37 Chromosome 2, 21229220: 21229220
73 APOB NM_000384.2(APOB): c.9221A> G (p.Tyr3074Cys) single nucleotide variant Uncertain significance rs372902533 GRCh38 Chromosome 2, 21007647: 21007647
74 APOB NM_000384.2(APOB): c.9221A> G (p.Tyr3074Cys) single nucleotide variant Uncertain significance rs372902533 GRCh37 Chromosome 2, 21230519: 21230519
75 APOB NM_000384.2(APOB): c.9105T> C (p.Asn3035=) single nucleotide variant Benign/Likely benign rs147510760 GRCh38 Chromosome 2, 21007763: 21007763
76 APOB NM_000384.2(APOB): c.9105T> C (p.Asn3035=) single nucleotide variant Benign/Likely benign rs147510760 GRCh37 Chromosome 2, 21230635: 21230635
77 APOB NM_000384.2(APOB): c.8148C> T (p.Ile2716=) single nucleotide variant Conflicting interpretations of pathogenicity rs6413458 GRCh37 Chromosome 2, 21231592: 21231592
78 APOB NM_000384.2(APOB): c.8148C> T (p.Ile2716=) single nucleotide variant Conflicting interpretations of pathogenicity rs6413458 GRCh38 Chromosome 2, 21008720: 21008720
79 APOB NM_000384.2(APOB): c.7863A> C (p.Leu2621=) single nucleotide variant Likely benign rs138497378 GRCh37 Chromosome 2, 21231877: 21231877
80 APOB NM_000384.2(APOB): c.7863A> C (p.Leu2621=) single nucleotide variant Likely benign rs138497378 GRCh38 Chromosome 2, 21009005: 21009005
81 APOB NM_000384.2(APOB): c.7036G> A (p.Glu2346Lys) single nucleotide variant Uncertain significance rs769939347 GRCh38 Chromosome 2, 21009832: 21009832
82 APOB NM_000384.2(APOB): c.7036G> A (p.Glu2346Lys) single nucleotide variant Uncertain significance rs769939347 GRCh37 Chromosome 2, 21232704: 21232704
83 APOB NM_000384.2(APOB): c.6136G> A (p.Val2046Ile) single nucleotide variant Benign/Likely benign rs72653084 GRCh37 Chromosome 2, 21233604: 21233604
84 APOB NM_000384.2(APOB): c.6136G> A (p.Val2046Ile) single nucleotide variant Benign/Likely benign rs72653084 GRCh38 Chromosome 2, 21010732: 21010732
85 APOB NM_000384.2(APOB): c.5913G> A (p.Leu1971=) single nucleotide variant Conflicting interpretations of pathogenicity rs374251542 GRCh38 Chromosome 2, 21010955: 21010955
86 APOB NM_000384.2(APOB): c.5913G> A (p.Leu1971=) single nucleotide variant Conflicting interpretations of pathogenicity rs374251542 GRCh37 Chromosome 2, 21233827: 21233827
87 APOB NM_000384.2(APOB): c.3617T> C (p.Met1206Thr) single nucleotide variant Uncertain significance rs878853972 GRCh38 Chromosome 2, 21015152: 21015152
88 APOB NM_000384.2(APOB): c.3617T> C (p.Met1206Thr) single nucleotide variant Uncertain significance rs878853972 GRCh37 Chromosome 2, 21238024: 21238024
89 APOB NM_000384.2(APOB): c.3427C> T (p.Pro1143Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72653077 GRCh37 Chromosome 2, 21238323: 21238323
90 APOB NM_000384.2(APOB): c.3427C> T (p.Pro1143Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72653077 GRCh38 Chromosome 2, 21015451: 21015451
91 APOB NM_000384.2(APOB): c.2981C> T (p.Pro994Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41288783 GRCh38 Chromosome 2, 21019741: 21019741
92 APOB NM_000384.2(APOB): c.2981C> T (p.Pro994Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41288783 GRCh37 Chromosome 2, 21242613: 21242613
93 APOB NM_000384.2(APOB): c.2657A> G (p.Asn886Ser) single nucleotide variant Uncertain significance rs183398286 GRCh37 Chromosome 2, 21245862: 21245862
94 APOB NM_000384.2(APOB): c.2657A> G (p.Asn886Ser) single nucleotide variant Uncertain significance rs183398286 GRCh38 Chromosome 2, 21022990: 21022990
95 APOB NM_000384.2(APOB): c.35_47delTGGCGCTGCCTGCinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu) indel Uncertain significance rs878853971 GRCh37 Chromosome 2, 21266771: 21266783
96 APOB NM_000384.2(APOB): c.35_47delTGGCGCTGCCTGCinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu) indel Uncertain significance rs878853971 GRCh38 Chromosome 2, 21043899: 21043911
97 APOB NM_000384.2(APOB): c.12766G> A (p.Glu4256Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61743313 GRCh38 Chromosome 2, 21002656: 21002656
98 APOB NM_000384.2(APOB): c.12766G> A (p.Glu4256Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs61743313 GRCh37 Chromosome 2, 21225528: 21225528
99 APOB NM_000384.2(APOB): c.6895G> C (p.Asp2299His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713681 GRCh37 Chromosome 2, 21232845: 21232845
100 APOB NM_000384.2(APOB): c.6895G> C (p.Asp2299His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713681 GRCh38 Chromosome 2, 21009973: 21009973
101 APOB NM_000384.2(APOB): c.1310G> A (p.Arg437His) single nucleotide variant Conflicting interpretations of pathogenicity rs142114415 GRCh37 Chromosome 2, 21255268: 21255268
102 APOB NM_000384.2(APOB): c.1310G> A (p.Arg437His) single nucleotide variant Conflicting interpretations of pathogenicity rs142114415 GRCh38 Chromosome 2, 21032396: 21032396
103 APOB NM_000384.2(APOB): c.574G> A (p.Val192Ile) single nucleotide variant Uncertain significance rs200662943 GRCh38 Chromosome 2, 21037219: 21037219
104 APOB NM_000384.2(APOB): c.574G> A (p.Val192Ile) single nucleotide variant Uncertain significance rs200662943 GRCh37 Chromosome 2, 21260091: 21260091
105 APOB NM_000384.2(APOB): c.13451C> T (p.Thr4484Met) single nucleotide variant Conflicting interpretations of pathogenicity rs12713450 GRCh37 Chromosome 2, 21224843: 21224843
106 APOB NM_000384.2(APOB): c.13451C> T (p.Thr4484Met) single nucleotide variant Conflicting interpretations of pathogenicity rs12713450 GRCh38 Chromosome 2, 21001971: 21001971
107 APOB NM_000384.2(APOB): c.12809G> C (p.Arg4270Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801702 GRCh38 Chromosome 2, 21002613: 21002613
108 APOB NM_000384.2(APOB): c.12809G> C (p.Arg4270Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801702 GRCh37 Chromosome 2, 21225485: 21225485
109 APOB NM_000384.2(APOB): c.12697T> A (p.Ser4233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61743299 GRCh37 Chromosome 2, 21225597: 21225597
110 APOB NM_000384.2(APOB): c.12697T> A (p.Ser4233Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61743299 GRCh38 Chromosome 2, 21002725: 21002725
111 APOB NM_000384.2(APOB): c.11904-7C> T single nucleotide variant Benign/Likely benign rs12720851 GRCh37 Chromosome 2, 21227331: 21227331
112 APOB NM_000384.2(APOB): c.11904-7C> T single nucleotide variant Benign/Likely benign rs12720851 GRCh38 Chromosome 2, 21004459: 21004459
113 APOB NM_000384.2(APOB): c.11808C> T (p.Ile3936=) single nucleotide variant Benign/Likely benign rs12720852 GRCh37 Chromosome 2, 21227528: 21227528
114 APOB NM_000384.2(APOB): c.11808C> T (p.Ile3936=) single nucleotide variant Benign/Likely benign rs12720852 GRCh38 Chromosome 2, 21004656: 21004656
115 APOB NM_000384.2(APOB): c.10737C> T (p.Thr3579=) single nucleotide variant Benign/Likely benign rs12713554 GRCh38 Chromosome 2, 21006131: 21006131
116 APOB NM_000384.2(APOB): c.10737C> T (p.Thr3579=) single nucleotide variant Benign/Likely benign rs12713554 GRCh37 Chromosome 2, 21229003: 21229003
117 APOB NM_000384.2(APOB): c.9880T> C (p.Ser3294Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs12720855 GRCh37 Chromosome 2, 21229860: 21229860
118 APOB NM_000384.2(APOB): c.9880T> C (p.Ser3294Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs12720855 GRCh38 Chromosome 2, 21006988: 21006988
119 APOB NM_000384.2(APOB): c.7998A> G (p.Val2666=) single nucleotide variant Likely benign rs1042006 GRCh38 Chromosome 2, 21008870: 21008870
120 APOB NM_000384.2(APOB): c.7998A> G (p.Val2666=) single nucleotide variant Likely benign rs1042006 GRCh37 Chromosome 2, 21231742: 21231742
121 APOB NM_000384.2(APOB): c.7612C> T (p.Leu2538=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653093 GRCh38 Chromosome 2, 21009256: 21009256
122 APOB NM_000384.2(APOB): c.7612C> T (p.Leu2538=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653093 GRCh37 Chromosome 2, 21232128: 21232128
123 APOB NM_000384.2(APOB): c.7367C> A (p.Ala2456Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs12713675 GRCh38 Chromosome 2, 21009501: 21009501
124 APOB NM_000384.2(APOB): c.7367C> A (p.Ala2456Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs12713675 GRCh37 Chromosome 2, 21232373: 21232373
125 APOB NM_000384.2(APOB): c.7152T> C (p.Val2384=) single nucleotide variant Likely benign rs72653090 GRCh38 Chromosome 2, 21009716: 21009716
126 APOB NM_000384.2(APOB): c.7152T> C (p.Val2384=) single nucleotide variant Likely benign rs72653090 GRCh37 Chromosome 2, 21232588: 21232588
127 APOB NM_000384.2(APOB): c.6513A> G (p.Leu2171=) single nucleotide variant Benign rs547853968 GRCh38 Chromosome 2, 21010355: 21010355
128 APOB NM_000384.2(APOB): c.6513A> G (p.Leu2171=) single nucleotide variant Benign rs547853968 GRCh37 Chromosome 2, 21233227: 21233227
129 APOB NM_000384.2(APOB): c.3509-10G> A single nucleotide variant Benign/Likely benign rs12720770 GRCh37 Chromosome 2, 21238142: 21238142
130 APOB NM_000384.2(APOB): c.3509-10G> A single nucleotide variant Benign/Likely benign rs12720770 GRCh38 Chromosome 2, 21015270: 21015270
131 APOB NM_000384.2(APOB): c.3122-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72653071 GRCh38 Chromosome 2, 21016655: 21016655
132 APOB NM_000384.2(APOB): c.3122-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72653071 GRCh37 Chromosome 2, 21239527: 21239527
133 APOB NM_000384.2(APOB): c.2706C> T (p.Asn902=) single nucleotide variant Conflicting interpretations of pathogenicity rs1801700 GRCh38 Chromosome 2, 21022941: 21022941
134 APOB NM_000384.2(APOB): c.2706C> T (p.Asn902=) single nucleotide variant Conflicting interpretations of pathogenicity rs1801700 GRCh37 Chromosome 2, 21245813: 21245813
135 APOB NM_000384.2(APOB): c.1594C> T (p.Arg532Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306194 GRCh37 Chromosome 2, 21252534: 21252534
136 APOB NM_000384.2(APOB): c.1594C> T (p.Arg532Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306194 GRCh38 Chromosome 2, 21029662: 21029662
137 APOB NM_000384.2(APOB): c.13480_13482delCAG (p.Gln4494del) deletion Conflicting interpretations of pathogenicity rs562574661 GRCh38 Chromosome 2, 21001940: 21001942
138 APOB NM_000384.2(APOB): c.13480_13482delCAG (p.Gln4494del) deletion Conflicting interpretations of pathogenicity rs562574661 GRCh37 Chromosome 2, 21224812: 21224814
139 APOB NM_000384.2(APOB): c.10701G> A (p.Thr3567=) single nucleotide variant Conflicting interpretations of pathogenicity rs12713558 GRCh38 Chromosome 2, 21006167: 21006167
140 APOB NM_000384.2(APOB): c.10701G> A (p.Thr3567=) single nucleotide variant Conflicting interpretations of pathogenicity rs12713558 GRCh37 Chromosome 2, 21229039: 21229039
141 APOB NM_000384.2(APOB): c.10679A> G (p.Tyr3560Cys) single nucleotide variant Uncertain significance rs745721296 GRCh37 Chromosome 2, 21229061: 21229061
142 APOB NM_000384.2(APOB): c.10679A> G (p.Tyr3560Cys) single nucleotide variant Uncertain significance rs745721296 GRCh38 Chromosome 2, 21006189: 21006189
143 APOB NM_000384.2(APOB): c.10131G> A (p.Leu3377=) single nucleotide variant Conflicting interpretations of pathogenicity rs1799812 GRCh38 Chromosome 2, 21006737: 21006737
144 APOB NM_000384.2(APOB): c.10131G> A (p.Leu3377=) single nucleotide variant Conflicting interpretations of pathogenicity rs1799812 GRCh37 Chromosome 2, 21229609: 21229609
145 APOB NM_000384.2(APOB): c.3740A> G (p.Tyr1247Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61741164 GRCh38 Chromosome 2, 21014550: 21014550
146 APOB NM_000384.2(APOB): c.3740A> G (p.Tyr1247Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61741164 GRCh37 Chromosome 2, 21237422: 21237422
147 APOB NM_000384.2(APOB): c.3383G> A (p.Arg1128His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713843 GRCh37 Chromosome 2, 21238367: 21238367
148 APOB NM_000384.2(APOB): c.3383G> A (p.Arg1128His) single nucleotide variant Conflicting interpretations of pathogenicity rs12713843 GRCh38 Chromosome 2, 21015495: 21015495
149 APOB NM_000384.2(APOB): c.13183G> A (p.Gly4395Ser) single nucleotide variant Uncertain significance rs151333262 GRCh38 Chromosome 2, 21002239: 21002239
150 APOB NM_000384.2(APOB): c.13183G> A (p.Gly4395Ser) single nucleotide variant Uncertain significance rs151333262 GRCh37 Chromosome 2, 21225111: 21225111
151 APOB NM_000384.2(APOB): c.11257T> C (p.Phe3753Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61741974 GRCh38 Chromosome 2, 21005611: 21005611
152 APOB NM_000384.2(APOB): c.11257T> C (p.Phe3753Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61741974 GRCh37 Chromosome 2, 21228483: 21228483
153 APOB NM_000384.2(APOB): c.10575C> T (p.Ser3525=) single nucleotide variant Conflicting interpretations of pathogenicity rs142573551 GRCh38 Chromosome 2, 21006293: 21006293
154 APOB NM_000384.2(APOB): c.10575C> T (p.Ser3525=) single nucleotide variant Conflicting interpretations of pathogenicity rs142573551 GRCh37 Chromosome 2, 21229165: 21229165
155 APOB NM_000384.2(APOB): c.9477G> A (p.Lys3159=) single nucleotide variant Benign/Likely benign rs13306196 GRCh38 Chromosome 2, 21007391: 21007391
156 APOB NM_000384.2(APOB): c.9477G> A (p.Lys3159=) single nucleotide variant Benign/Likely benign rs13306196 GRCh37 Chromosome 2, 21230263: 21230263
157 APOB NM_000384.2(APOB): c.4656T> C (p.Ser1552=) single nucleotide variant Conflicting interpretations of pathogenicity rs761580028 GRCh38 Chromosome 2, 21012212: 21012212
158 APOB NM_000384.2(APOB): c.4656T> C (p.Ser1552=) single nucleotide variant Conflicting interpretations of pathogenicity rs761580028 GRCh37 Chromosome 2, 21235084: 21235084
159 APOB NM_000384.2(APOB): c.4365C> T (p.Phe1455=) single nucleotide variant Benign/Likely benign rs12720847 GRCh38 Chromosome 2, 21012503: 21012503
160 APOB NM_000384.2(APOB): c.4365C> T (p.Phe1455=) single nucleotide variant Benign/Likely benign rs12720847 GRCh37 Chromosome 2, 21235375: 21235375
161 APOB NM_000384.2(APOB): c.4163G> A (p.Arg1388His) single nucleotide variant Benign/Likely benign rs13306187 GRCh38 Chromosome 2, 21013213: 21013213
162 APOB NM_000384.2(APOB): c.4163G> A (p.Arg1388His) single nucleotide variant Benign/Likely benign rs13306187 GRCh37 Chromosome 2, 21236085: 21236085
163 APOB NM_000384.2(APOB): c.3426G> A (p.Ser1142=) single nucleotide variant Conflicting interpretations of pathogenicity rs142448733 GRCh38 Chromosome 2, 21015452: 21015452
164 APOB NM_000384.2(APOB): c.3426G> A (p.Ser1142=) single nucleotide variant Conflicting interpretations of pathogenicity rs142448733 GRCh37 Chromosome 2, 21238324: 21238324
165 APOB NM_000384.2(APOB): c.2244+3G> A single nucleotide variant Benign/Likely benign rs12714189 GRCh38 Chromosome 2, 21026785: 21026785
166 APOB NM_000384.2(APOB): c.2244+3G> A single nucleotide variant Benign/Likely benign rs12714189 GRCh37 Chromosome 2, 21249657: 21249657
167 APOB NM_000384.2(APOB): c.607A> G (p.Ile203Val) single nucleotide variant Benign/Likely benign rs72653059 GRCh38 Chromosome 2, 21037186: 21037186
168 APOB NM_000384.2(APOB): c.607A> G (p.Ile203Val) single nucleotide variant Benign/Likely benign rs72653059 GRCh37 Chromosome 2, 21260058: 21260058
169 APOB NM_000384.2(APOB): c.581C> T (p.Thr194Met) single nucleotide variant Benign/Likely benign rs13306198 GRCh38 Chromosome 2, 21037212: 21037212
170 APOB NM_000384.2(APOB): c.581C> T (p.Thr194Met) single nucleotide variant Benign/Likely benign rs13306198 GRCh37 Chromosome 2, 21260084: 21260084
171 APOB NM_000384.2(APOB): c.538-9C> T single nucleotide variant Benign/Likely benign rs1800478 GRCh38 Chromosome 2, 21037264: 21037264
172 APOB NM_000384.2(APOB): c.538-9C> T single nucleotide variant Benign/Likely benign rs1800478 GRCh37 Chromosome 2, 21260136: 21260136
173 APOB NM_000384.2(APOB): c.129G> C (p.Ala43=) single nucleotide variant Benign/Likely benign rs12720850 GRCh38 Chromosome 2, 21042469: 21042469
174 APOB NM_000384.2(APOB): c.129G> C (p.Ala43=) single nucleotide variant Benign/Likely benign rs12720850 GRCh37 Chromosome 2, 21265341: 21265341
175 APOB NM_000384.2(APOB): c.12903C> T (p.Asp4301=) single nucleotide variant Conflicting interpretations of pathogenicity rs200145506 GRCh38 Chromosome 2, 21002519: 21002519
176 APOB NM_000384.2(APOB): c.12903C> T (p.Asp4301=) single nucleotide variant Conflicting interpretations of pathogenicity rs200145506 GRCh37 Chromosome 2, 21225391: 21225391
177 APOB NM_000384.2(APOB): c.12310C> A (p.Leu4104Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199668351 GRCh38 Chromosome 2, 21003112: 21003112
178 APOB NM_000384.2(APOB): c.12310C> A (p.Leu4104Met) single nucleotide variant Conflicting interpretations of pathogenicity rs199668351 GRCh37 Chromosome 2, 21225984: 21225984
179 APOB NM_000384.2(APOB): c.11833A> G (p.Thr3945Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1801698 GRCh38 Chromosome 2, 21004631: 21004631
180 APOB NM_000384.2(APOB): c.11833A> G (p.Thr3945Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1801698 GRCh37 Chromosome 2, 21227503: 21227503
181 APOB NM_000384.2(APOB): c.11354C> T (p.Thr3785Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143710616 GRCh38 Chromosome 2, 21005514: 21005514
182 APOB NM_000384.2(APOB): c.11354C> T (p.Thr3785Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs143710616 GRCh37 Chromosome 2, 21228386: 21228386
183 APOB NM_000384.2(APOB): c.9294C> T (p.Tyr3098=) single nucleotide variant Conflicting interpretations of pathogenicity rs145777339 GRCh38 Chromosome 2, 21007574: 21007574
184 APOB NM_000384.2(APOB): c.9294C> T (p.Tyr3098=) single nucleotide variant Conflicting interpretations of pathogenicity rs145777339 GRCh37 Chromosome 2, 21230446: 21230446
185 APOB NM_000384.2(APOB): c.9004C> T (p.Leu3002=) single nucleotide variant Benign/Likely benign rs12713600 GRCh38 Chromosome 2, 21007864: 21007864
186 APOB NM_000384.2(APOB): c.9004C> T (p.Leu3002=) single nucleotide variant Benign/Likely benign rs12713600 GRCh37 Chromosome 2, 21230736: 21230736
187 APOB NM_000384.2(APOB): c.1785C> G (p.Ser595=) single nucleotide variant Benign/Likely benign rs139864087 GRCh38 Chromosome 2, 21028371: 21028371
188 APOB NM_000384.2(APOB): c.1785C> G (p.Ser595=) single nucleotide variant Benign/Likely benign rs139864087 GRCh37 Chromosome 2, 21251243: 21251243
189 APOB NM_000384.2(APOB): c.1400C> G (p.Ala467Gly) single nucleotide variant Uncertain significance rs376602710 GRCh38 Chromosome 2, 21029968: 21029968
190 APOB NM_000384.2(APOB): c.1400C> G (p.Ala467Gly) single nucleotide variant Uncertain significance rs376602710 GRCh37 Chromosome 2, 21252840: 21252840
191 APOB NM_000384.2(APOB): c.1223T> C (p.Ile408Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12714225 GRCh38 Chromosome 2, 21032483: 21032483
192 APOB NM_000384.2(APOB): c.1223T> C (p.Ile408Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12714225 GRCh37 Chromosome 2, 21255355: 21255355
193 APOB NM_000384.2(APOB): c.285C> A (p.Ser95Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143613534 GRCh38 Chromosome 2, 21041036: 21041036
194 APOB NM_000384.2(APOB): c.285C> A (p.Ser95Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143613534 GRCh37 Chromosome 2, 21263908: 21263908
195 APOB NM_000384.2(APOB): c.13102C> G (p.Gln4368Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs72654424 GRCh38 Chromosome 2, 21002320: 21002320
196 APOB NM_000384.2(APOB): c.13102C> G (p.Gln4368Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs72654424 GRCh37 Chromosome 2, 21225192: 21225192
197 APOB NM_000384.2(APOB): c.12444C> A (p.Ala4148=) single nucleotide variant Conflicting interpretations of pathogenicity rs757789853 GRCh38 Chromosome 2, 21002978: 21002978
198 APOB NM_000384.2(APOB): c.12444C> A (p.Ala4148=) single nucleotide variant Conflicting interpretations of pathogenicity rs757789853 GRCh37 Chromosome 2, 21225850: 21225850
199 APOB NM_000384.2(APOB): c.9883T> C (p.Tyr3295His) single nucleotide variant Conflicting interpretations of pathogenicity rs186299244 GRCh38 Chromosome 2, 21006985: 21006985
200 APOB NM_000384.2(APOB): c.9883T> C (p.Tyr3295His) single nucleotide variant Conflicting interpretations of pathogenicity rs186299244 GRCh37 Chromosome 2, 21229857: 21229857
201 APOB NM_000384.2(APOB): c.8889C> T (p.Ile2963=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653097 GRCh38 Chromosome 2, 21007979: 21007979
202 APOB NM_000384.2(APOB): c.8889C> T (p.Ile2963=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653097 GRCh37 Chromosome 2, 21230851: 21230851
203 APOB NM_000384.2(APOB): c.7989T> C (p.Ile2663=) single nucleotide variant Conflicting interpretations of pathogenicity rs199642915 GRCh38 Chromosome 2, 21008879: 21008879
204 APOB NM_000384.2(APOB): c.7989T> C (p.Ile2663=) single nucleotide variant Conflicting interpretations of pathogenicity rs199642915 GRCh37 Chromosome 2, 21231751: 21231751
205 APOB NM_000384.2(APOB): c.7615G> A (p.Val2539Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148170480 GRCh38 Chromosome 2, 21009253: 21009253
206 APOB NM_000384.2(APOB): c.7615G> A (p.Val2539Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs148170480 GRCh37 Chromosome 2, 21232125: 21232125
207 APOB NM_000384.2(APOB): c.7242A> C (p.Glu2414Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72653091 GRCh38 Chromosome 2, 21009626: 21009626
208 APOB NM_000384.2(APOB): c.7242A> C (p.Glu2414Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs72653091 GRCh37 Chromosome 2, 21232498: 21232498
209 APOB NM_000384.2(APOB): c.3712C> A (p.Leu1238Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72653078 GRCh38 Chromosome 2, 21014578: 21014578
210 APOB NM_000384.2(APOB): c.3712C> A (p.Leu1238Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72653078 GRCh37 Chromosome 2, 21237450: 21237450
211 APOB NM_000384.2(APOB): c.3178T> C (p.Leu1060=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653073 GRCh38 Chromosome 2, 21016593: 21016593
212 APOB NM_000384.2(APOB): c.3178T> C (p.Leu1060=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653073 GRCh37 Chromosome 2, 21239465: 21239465
213 APOB NM_000384.2(APOB): c.2853G> A (p.Glu951=) single nucleotide variant Conflicting interpretations of pathogenicity rs151193347 GRCh38 Chromosome 2, 21019869: 21019869
214 APOB NM_000384.2(APOB): c.2853G> A (p.Glu951=) single nucleotide variant Conflicting interpretations of pathogenicity rs151193347 GRCh37 Chromosome 2, 21242741: 21242741
215 APOB NM_000384.2(APOB): c.433C> T (p.Pro145Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs6752026 GRCh38 Chromosome 2, 21038062: 21038062
216 APOB NM_000384.2(APOB): c.433C> T (p.Pro145Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs6752026 GRCh37 Chromosome 2, 21260934: 21260934
217 APOB NM_000384.2(APOB): c.288G> T (p.Gln96His) single nucleotide variant Conflicting interpretations of pathogenicity rs186544754 GRCh38 Chromosome 2, 21041033: 21041033
218 APOB NM_000384.2(APOB): c.288G> T (p.Gln96His) single nucleotide variant Conflicting interpretations of pathogenicity rs186544754 GRCh37 Chromosome 2, 21263905: 21263905
219 APOB NM_000384.2(APOB): c.11911G> A (p.Glu3971Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373477107 GRCh38 Chromosome 2, 21004445: 21004445
220 APOB NM_000384.2(APOB): c.11911G> A (p.Glu3971Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373477107 GRCh37 Chromosome 2, 21227317: 21227317
221 APOB NM_000384.2(APOB): c.8912A> C (p.Asn2971Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653098 GRCh38 Chromosome 2, 21007956: 21007956
222 APOB NM_000384.2(APOB): c.8912A> C (p.Asn2971Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72653098 GRCh37 Chromosome 2, 21230828: 21230828
223 APOB NM_000384.2(APOB): c.6656G> A (p.Arg2219His) single nucleotide variant Conflicting interpretations of pathogenicity rs200106845 GRCh38 Chromosome 2, 21010212: 21010212
224 APOB NM_000384.2(APOB): c.6656G> A (p.Arg2219His) single nucleotide variant Conflicting interpretations of pathogenicity rs200106845 GRCh37 Chromosome 2, 21233084: 21233084
225 APOB NM_000384.2(APOB): c.5763A> G (p.Gly1921=) single nucleotide variant Conflicting interpretations of pathogenicity rs141022509 GRCh38 Chromosome 2, 21011105: 21011105
226 APOB NM_000384.2(APOB): c.5763A> G (p.Gly1921=) single nucleotide variant Conflicting interpretations of pathogenicity rs141022509 GRCh37 Chromosome 2, 21233977: 21233977
227 APOB NM_000384.2(APOB): c.4449A> G (p.Glu1483=) single nucleotide variant Conflicting interpretations of pathogenicity rs151018874 GRCh38 Chromosome 2, 21012419: 21012419
228 APOB NM_000384.2(APOB): c.4449A> G (p.Glu1483=) single nucleotide variant Conflicting interpretations of pathogenicity rs151018874 GRCh37 Chromosome 2, 21235291: 21235291
229 APOB NM_000384.2(APOB): c.3843C> T (p.Ser1281=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653079 GRCh38 Chromosome 2, 21013533: 21013533
230 APOB NM_000384.2(APOB): c.3843C> T (p.Ser1281=) single nucleotide variant Conflicting interpretations of pathogenicity rs72653079 GRCh37 Chromosome 2, 21236405: 21236405
231 APOB NM_000384.2(APOB): c.3471T> C (p.Tyr1157=) single nucleotide variant Conflicting interpretations of pathogenicity rs201128198 GRCh38 Chromosome 2, 21015407: 21015407
232 APOB NM_000384.2(APOB): c.3471T> C (p.Tyr1157=) single nucleotide variant Conflicting interpretations of pathogenicity rs201128198 GRCh37 Chromosome 2, 21238279: 21238279
233 APOB NM_000384.2(APOB): c.3034G> A (p.Glu1012Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs575505383 GRCh38 Chromosome 2, 21019079: 21019079
234 APOB NM_000384.2(APOB): c.3034G> A (p.Glu1012Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs575505383 GRCh37 Chromosome 2, 21241951: 21241951
235 APOB NM_000384.2(APOB): c.2823A> G (p.Thr941=) single nucleotide variant Benign/Likely benign rs200868559 GRCh38 Chromosome 2, 21019899: 21019899
236 APOB NM_000384.2(APOB): c.2823A> G (p.Thr941=) single nucleotide variant Benign/Likely benign rs200868559 GRCh37 Chromosome 2, 21242771: 21242771
237 APOB NM_000384.2(APOB): c.10780T> C (p.Trp3594Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61744288 GRCh37 Chromosome 2, 21228960: 21228960
238 APOB NM_000384.2(APOB): c.10780T> C (p.Trp3594Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61744288 GRCh38 Chromosome 2, 21006088: 21006088
239 APOB NM_000384.2(APOB): c.10061C> G (p.Ala3354Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61742331 GRCh37 Chromosome 2, 21229679: 21229679
240 APOB NM_000384.2(APOB): c.10061C> G (p.Ala3354Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs61742331 GRCh38 Chromosome 2, 21006807: 21006807
241 APOB NM_000384.2(APOB): c.13175G> A (p.Ser4392Asn) single nucleotide variant Uncertain significance rs777718986 GRCh37 Chromosome 2, 21225119: 21225119
242 APOB NM_000384.2(APOB): c.13175G> A (p.Ser4392Asn) single nucleotide variant Uncertain significance rs777718986 GRCh38 Chromosome 2, 21002247: 21002247
243 APOB NM_000384.2(APOB): c.1648G> C (p.Asp550His) single nucleotide variant Conflicting interpretations of pathogenicity rs145862664 GRCh37 Chromosome 2, 21251380: 21251380
244 APOB NM_000384.2(APOB): c.1648G> C (p.Asp550His) single nucleotide variant Conflicting interpretations of pathogenicity rs145862664 GRCh38 Chromosome 2, 21028508: 21028508
245 APOB NM_000384.2(APOB): c.307T> C (p.Tyr103His) single nucleotide variant Conflicting interpretations of pathogenicity rs9282603 GRCh37 Chromosome 2, 21263886: 21263886
246 APOB NM_000384.2(APOB): c.307T> C (p.Tyr103His) single nucleotide variant Conflicting interpretations of pathogenicity rs9282603 GRCh38 Chromosome 2, 21041014: 21041014
247 APOB NM_000384.2(APOB): c.12382G> A (p.Val4128Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1801703 GRCh37 Chromosome 2, 21225912: 21225912
248 APOB NM_000384.2(APOB): c.12382G> A (p.Val4128Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1801703 GRCh38 Chromosome 2, 21003040: 21003040
249 APOB NM_000384.2(APOB): c.12016G> A (p.Val4006Ile) single nucleotide variant Benign/Likely benign rs183117027 GRCh37 Chromosome 2, 21227212: 21227212
250 APOB NM_000384.2(APOB): c.12016G> A (p.Val4006Ile) single nucleotide variant Benign/Likely benign rs183117027 GRCh38 Chromosome 2, 21004340: 21004340
251 APOB NM_000384.2(APOB): c.13181T> C (p.Val4394Ala) single nucleotide variant Uncertain significance rs12720843 GRCh37 Chromosome 2, 21225113: 21225113
252 APOB NM_000384.2(APOB): c.13181T> C (p.Val4394Ala) single nucleotide variant Uncertain significance rs12720843 GRCh38 Chromosome 2, 21002241: 21002241
253 APOB NM_000384.2(APOB): c.11761G> A (p.Val3921Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72654409 GRCh37 Chromosome 2, 21227979: 21227979
254 APOB NM_000384.2(APOB): c.11761G> A (p.Val3921Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72654409 GRCh38 Chromosome 2, 21005107: 21005107
255 APOB NM_000384.2(APOB): c.9639C> A (p.Asn3213Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs574725520 GRCh38 Chromosome 2, 21007229: 21007229
256 APOB NM_000384.2(APOB): c.9639C> A (p.Asn3213Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs574725520 GRCh37 Chromosome 2, 21230101: 21230101
257 APOB NM_000384.2(APOB): c.8550T> G (p.Ile2850Met) single nucleotide variant Uncertain significance rs148498577 GRCh37 Chromosome 2, 21231190: 21231190
258 APOB NM_000384.2(APOB): c.8550T> G (p.Ile2850Met) single nucleotide variant Uncertain significance rs148498577 GRCh38 Chromosome 2, 21008318: 21008318
259 APOB NM_000384.2(APOB): c.2068-4T> A single nucleotide variant Benign/Likely benign rs41291161 GRCh38 Chromosome 2, 21026968: 21026968
260 APOB NM_000384.2(APOB): c.2068-4T> A single nucleotide variant Benign/Likely benign rs41291161 GRCh37 Chromosome 2, 21249840: 21249840
261 APOB NM_000384.2(APOB): c.10825T> A (p.Ser3609Thr) single nucleotide variant Uncertain significance rs1060500239 GRCh38 Chromosome 2, 21006043: 21006043
262 APOB NM_000384.2(APOB): c.10825T> A (p.Ser3609Thr) single nucleotide variant Uncertain significance rs1060500239 GRCh37 Chromosome 2, 21228915: 21228915
263 APOB NM_000384.2(APOB): c.2568C> T (p.Pro856=) single nucleotide variant Likely benign rs184556149 GRCh38 Chromosome 2, 21023561: 21023561
264 APOB NM_000384.2(APOB): c.2568C> T (p.Pro856=) single nucleotide variant Likely benign rs184556149 GRCh37 Chromosome 2, 21246433: 21246433
265 APOB NM_000384.2(APOB): c.751G> A (p.Ala251Thr) single nucleotide variant Benign/Likely benign rs61741625 GRCh38 Chromosome 2, 21035651: 21035651
266 APOB NM_000384.2(APOB): c.751G> A (p.Ala251Thr) single nucleotide variant Benign/Likely benign rs61741625 GRCh37 Chromosome 2, 21258523: 21258523
267 APOB NM_000384.2(APOB): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs766243954 GRCh38 Chromosome 2, 21038086: 21038086
268 APOB NM_000384.2(APOB): c.409G> T (p.Glu137Ter) single nucleotide variant Pathogenic rs766243954 GRCh37 Chromosome 2, 21260958: 21260958
269 APOB NM_000384.2(APOB): c.9226C> A (p.Leu3076Met) single nucleotide variant Likely benign rs72653099 GRCh37 Chromosome 2, 21230514: 21230514
270 APOB NM_000384.2(APOB): c.9226C> A (p.Leu3076Met) single nucleotide variant Likely benign rs72653099 GRCh38 Chromosome 2, 21007642: 21007642
271 APOB NM_000384.2(APOB): c.6937G> A (p.Val2313Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs584542 GRCh37 Chromosome 2, 21232803: 21232803
272 APOB NM_000384.2(APOB): c.6937G> A (p.Val2313Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs584542 GRCh38 Chromosome 2, 21009931: 21009931
273 APOB NM_000384.2(APOB): c.4586G> A (p.Gly1529Asp) single nucleotide variant Uncertain significance rs558304720 GRCh37 Chromosome 2, 21235154: 21235154
274 APOB NM_000384.2(APOB): c.4586G> A (p.Gly1529Asp) single nucleotide variant Uncertain significance rs558304720 GRCh38 Chromosome 2, 21012282: 21012282
275 APOB NM_000384.2(APOB): c.3583G> A (p.Val1195Met) single nucleotide variant Uncertain significance rs1060500236 GRCh37 Chromosome 2, 21238058: 21238058
276 APOB NM_000384.2(APOB): c.3583G> A (p.Val1195Met) single nucleotide variant Uncertain significance rs1060500236 GRCh38 Chromosome 2, 21015186: 21015186
277 APOB NM_000384.2(APOB): c.13452G> A (p.Thr4484=) single nucleotide variant Likely benign rs200374122 GRCh37 Chromosome 2, 21224842: 21224842
278 APOB NM_000384.2(APOB): c.13452G> A (p.Thr4484=) single nucleotide variant Likely benign rs200374122 GRCh38 Chromosome 2, 21001970: 21001970
279 APOB NM_000384.2(APOB): c.9721G> A (p.Glu3241Lys) single nucleotide variant Uncertain significance rs139245086 GRCh37 Chromosome 2, 21230019: 21230019
280 APOB NM_000384.2(APOB): c.9721G> A (p.Glu3241Lys) single nucleotide variant Uncertain significance rs139245086 GRCh38 Chromosome 2, 21007147: 21007147
281 APOB NM_000384.2(APOB): c.7223C> T (p.Ser2408Phe) single nucleotide variant Likely benign rs140027955 GRCh37 Chromosome 2, 21232517: 21232517
282 APOB NM_000384.2(APOB): c.7223C> T (p.Ser2408Phe) single nucleotide variant Likely benign rs140027955 GRCh38 Chromosome 2, 21009645: 21009645
283 APOB NM_000384.2(APOB): c.7209G> T (p.Lys2403Asn) single nucleotide variant Uncertain significance rs777497625 GRCh37 Chromosome 2, 21232531: 21232531
284 APOB NM_000384.2(APOB): c.7209G> T (p.Lys2403Asn) single nucleotide variant Uncertain significance rs777497625 GRCh38 Chromosome 2, 21009659: 21009659
285 APOB NM_000384.2(APOB): c.6609_6611delTGA (p.Asp2203del) deletion Uncertain significance rs1060500238 GRCh37 Chromosome 2, 21233129: 21233131
286 APOB NM_000384.2(APOB): c.6609_6611delTGA (p.Asp2203del) deletion Uncertain significance rs1060500238 GRCh38 Chromosome 2, 21010257: 21010259
287 APOB NM_000384.2(APOB): c.689G> T (p.Gly230Val) single nucleotide variant Uncertain significance rs755661819 GRCh37 Chromosome 2, 21259976: 21259976
288 APOB NM_000384.2(APOB): c.689G> T (p.Gly230Val) single nucleotide variant Uncertain significance rs755661819 GRCh38 Chromosome 2, 21037104: 21037104
289 APOB NM_000384.2(APOB): c.25_27dupCTG (p.Leu9_Ala10insLeu) duplication Uncertain significance rs1060500237 GRCh37 Chromosome 2, 21266791: 21266793
290 APOB NM_000384.2(APOB): c.25_27dupCTG (p.Leu9_Ala10insLeu) duplication Uncertain significance rs1060500237 GRCh38 Chromosome 2, 21043919: 21043921
291 APOB NM_000384.2(APOB): c.12318A> G (p.Arg4106=) single nucleotide variant Benign/Likely benign rs375795401 GRCh38 Chromosome 2, 21003104: 21003104
292 APOB NM_000384.2(APOB): c.12318A> G (p.Arg4106=) single nucleotide variant Benign/Likely benign rs375795401 GRCh37 Chromosome 2, 21225976: 21225976
293 APOB NM_000384.2(APOB): c.6092G> C (p.Ser2031Thr) single nucleotide variant Uncertain significance rs776946940 GRCh38 Chromosome 2, 21010776: 21010776
294 APOB NM_000384.2(APOB): c.6092G> C (p.Ser2031Thr) single nucleotide variant Uncertain significance rs776946940 GRCh37 Chromosome 2, 21233648: 21233648
295 APOB NM_000384.2(APOB): c.5322C> T (p.Tyr1774=) single nucleotide variant Benign/Likely benign rs13306188 GRCh38 Chromosome 2, 21011546: 21011546
296 APOB NM_000384.2(APOB): c.5322C> T (p.Tyr1774=) single nucleotide variant Benign/Likely benign rs13306188 GRCh37 Chromosome 2, 21234418: 21234418
297 APOB NM_000384.2(APOB): c.5057C> T (p.Thr1686Ile) single nucleotide variant Uncertain significance rs1060500240 GRCh38 Chromosome 2, 21011811: 21011811
298 APOB NM_000384.2(APOB): c.5057C> T (p.Thr1686Ile) single nucleotide variant Uncertain significance rs1060500240 GRCh37 Chromosome 2, 21234683: 21234683
299 APOB NM_000384.2(APOB): c.4838G> C (p.Ser1613Thr) single nucleotide variant Likely benign rs61742247 GRCh38 Chromosome 2, 21012030: 21012030
300 APOB NM_000384.2(APOB): c.4838G> C (p.Ser1613Thr) single nucleotide variant Likely benign rs61742247 GRCh37 Chromosome 2, 21234902: 21234902
301 APOB NM_000384.2(APOB): c.641G> A (p.Arg214His) single nucleotide variant Likely benign rs146152405 GRCh38 Chromosome 2, 21037152: 21037152
302 APOB NM_000384.2(APOB): c.641G> A (p.Arg214His) single nucleotide variant Likely benign rs146152405 GRCh37 Chromosome 2, 21260024: 21260024
303 APOB NM_000384.2(APOB): c.61_66dup (p.Leu22_Ala23insLeuLeu) duplication Conflicting interpretations of pathogenicity rs745520533 GRCh38 Chromosome 2, 21043880: 21043885
304 APOB NM_000384.2(APOB): c.61_66dup (p.Leu22_Ala23insLeuLeu) duplication Conflicting interpretations of pathogenicity rs745520533 GRCh37 Chromosome 2, 21266752: 21266757
305 APOB NM_000384.2(APOB): c.4265G> A (p.Cys1422Tyr) single nucleotide variant Uncertain significance rs568413 GRCh38 Chromosome 2, 21012603: 21012603
306 APOB NM_000384.2(APOB): c.4265G> A (p.Cys1422Tyr) single nucleotide variant Uncertain significance rs568413 GRCh37 Chromosome 2, 21235475: 21235475
307 APOB NM_000384.2(APOB): c.2863C> T (p.Pro955Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs13306206 GRCh37 Chromosome 2, 21242731: 21242731
308 APOB NM_000384.2(APOB): c.2863C> T (p.Pro955Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs13306206 GRCh38 Chromosome 2, 21019859: 21019859
309 APOB NM_000384.2(APOB): c.10186G> A (p.Ala3396Thr) single nucleotide variant Likely pathogenic rs1553383017 GRCh38 Chromosome 2, 21006682: 21006682
310 APOB NM_000384.2(APOB): c.10186G> A (p.Ala3396Thr) single nucleotide variant Likely pathogenic rs1553383017 GRCh37 Chromosome 2, 21229554: 21229554
311 APOB NM_000384.2(APOB): c.11820G> A (p.Thr3940=) single nucleotide variant Likely benign rs72654417 GRCh38 Chromosome 2, 21004644: 21004644
312 APOB NM_000384.2(APOB): c.11820G> A (p.Thr3940=) single nucleotide variant Likely benign rs72654417 GRCh37 Chromosome 2, 21227516: 21227516
313 APOB NM_000384.2(APOB): c.8882A> G (p.Asn2961Ser) single nucleotide variant Uncertain significance rs142756262 GRCh38 Chromosome 2, 21007986: 21007986
314 APOB NM_000384.2(APOB): c.8882A> G (p.Asn2961Ser) single nucleotide variant Uncertain significance rs142756262 GRCh37 Chromosome 2, 21230858: 21230858
315 APOB NM_000384.2(APOB): c.6070A> G (p.Ile2024Val) single nucleotide variant Uncertain significance rs564588440 GRCh37 Chromosome 2, 21233670: 21233670
316 APOB NM_000384.2(APOB): c.6070A> G (p.Ile2024Val) single nucleotide variant Uncertain significance rs564588440 GRCh38 Chromosome 2, 21010798: 21010798
317 APOB NM_000384.2(APOB): c.2938G> A (p.Ala980Thr) single nucleotide variant Uncertain significance rs369310292 GRCh37 Chromosome 2, 21242656: 21242656
318 APOB NM_000384.2(APOB): c.2938G> A (p.Ala980Thr) single nucleotide variant Uncertain significance rs369310292 GRCh38 Chromosome 2, 21019784: 21019784
319 APOB NM_000384.2(APOB): c.2675C> T (p.Pro892Leu) single nucleotide variant Uncertain significance rs780537483 GRCh37 Chromosome 2, 21245844: 21245844
320 APOB NM_000384.2(APOB): c.2675C> T (p.Pro892Leu) single nucleotide variant Uncertain significance rs780537483 GRCh38 Chromosome 2, 21022972: 21022972
321 APOB NM_000384.2(APOB): c.1410G> C (p.Leu470=) single nucleotide variant Likely benign rs368305590 GRCh38 Chromosome 2, 21029958: 21029958
322 APOB NM_000384.2(APOB): c.1410G> C (p.Leu470=) single nucleotide variant Likely benign rs368305590 GRCh37 Chromosome 2, 21252830: 21252830
323 APOB NM_000384.2(APOB): c.690C> A (p.Gly230=) single nucleotide variant Likely benign rs151096846 GRCh37 Chromosome 2, 21259975: 21259975
324 APOB NM_000384.2(APOB): c.690C> A (p.Gly230=) single nucleotide variant Likely benign rs151096846 GRCh38 Chromosome 2, 21037103: 21037103
325 APOB NM_000384.2(APOB): c.12348T> C (p.Tyr4116=) single nucleotide variant Benign rs143685680 GRCh37 Chromosome 2, 21225946: 21225946
326 APOB NM_000384.2(APOB): c.12348T> C (p.Tyr4116=) single nucleotide variant Benign rs143685680 GRCh38 Chromosome 2, 21003074: 21003074
327 APOB NM_000384.2(APOB): c.11091T> C (p.Gly3697=) single nucleotide variant Likely benign rs201368496 GRCh37 Chromosome 2, 21228649: 21228649
328 APOB NM_000384.2(APOB): c.11091T> C (p.Gly3697=) single nucleotide variant Likely benign rs201368496 GRCh38 Chromosome 2, 21005777: 21005777
329 APOB NM_000384.2(APOB): c.10571A> C (p.Lys3524Thr) single nucleotide variant Uncertain significance rs750035232 GRCh37 Chromosome 2, 21229169: 21229169
330 APOB NM_000384.2(APOB): c.10571A> C (p.Lys3524Thr) single nucleotide variant Uncertain significance rs750035232 GRCh38 Chromosome 2, 21006297: 21006297
331 APOB NM_000384.2(APOB): c.10371C> T (p.Ser3457=) single nucleotide variant Likely benign rs139891446 GRCh38 Chromosome 2, 21006497: 21006497
332 APOB NM_000384.2(APOB): c.10371C> T (p.Ser3457=) single nucleotide variant Likely benign rs139891446 GRCh37 Chromosome 2, 21229369: 21229369
333 APOB NM_000384.2(APOB): c.7619G> T (p.Gly2540Val) single nucleotide variant Benign/Likely benign rs571626569 GRCh38 Chromosome 2, 21009249: 21009249
334 APOB NM_000384.2(APOB): c.7619G> T (p.Gly2540Val) single nucleotide variant Benign/Likely benign rs571626569 GRCh37 Chromosome 2, 21232121: 21232121
335 APOB NM_000384.2(APOB): c.6021G> C (p.Val2007=) single nucleotide variant Likely benign rs148252000 GRCh38 Chromosome 2, 21010847: 21010847
336 APOB NM_000384.2(APOB): c.6021G> C (p.Val2007=) single nucleotide variant Likely benign rs148252000 GRCh37 Chromosome 2, 21233719: 21233719
337 APOB NM_000384.2(APOB): c.13680T> C (p.Thr4560=) single nucleotide variant Benign/Likely benign rs72654427 GRCh37 Chromosome 2, 21224614: 21224614
338 APOB NM_000384.2(APOB): c.13680T> C (p.Thr4560=) single nucleotide variant Benign/Likely benign rs72654427 GRCh38 Chromosome 2, 21001742: 21001742
339 APOB NM_000384.2(APOB): c.13369G> A (p.Asp4457Asn) single nucleotide variant Benign rs183812948 GRCh38 Chromosome 2, 21002053: 21002053
340 APOB NM_000384.2(APOB): c.13369G> A (p.Asp4457Asn) single nucleotide variant Benign rs183812948 GRCh37 Chromosome 2, 21224925: 21224925
341 APOB NM_000384.2(APOB): c.2988C> T (p.Thr996=) single nucleotide variant Likely benign rs137875230 GRCh37 Chromosome 2, 21242606: 21242606
342 APOB NM_000384.2(APOB): c.2988C> T (p.Thr996=) single nucleotide variant Likely benign rs137875230 GRCh38 Chromosome 2, 21019734: 21019734
343 APOB NM_000384.2(APOB): c.10240G> A (p.Val3414Met) single nucleotide variant Uncertain significance rs749800586 GRCh38 Chromosome 2, 21006628: 21006628
344 APOB NM_000384.2(APOB): c.10240G> A (p.Val3414Met) single nucleotide variant Uncertain significance rs749800586 GRCh37 Chromosome 2, 21229500: 21229500
345 APOB NM_000384.2(APOB): c.318C> G (p.Asn106Lys) single nucleotide variant Uncertain significance rs371662800 GRCh38 Chromosome 2, 21041003: 21041003
346 APOB NM_000384.2(APOB): c.318C> G (p.Asn106Lys) single nucleotide variant Uncertain significance rs371662800 GRCh37 Chromosome 2, 21263875: 21263875
347 APOB NM_000384.2(APOB): c.10032A> C (p.Lys3344Asn) single nucleotide variant Uncertain significance rs757857092 GRCh37 Chromosome 2, 21229708: 21229708
348 APOB NM_000384.2(APOB): c.10032A> C (p.Lys3344Asn) single nucleotide variant Uncertain significance rs757857092 GRCh38 Chromosome 2, 21006836: 21006836
349 APOB NM_000384.2(APOB): c.8295A> G (p.Gln2765=) single nucleotide variant Benign/Likely benign rs767506952 GRCh37 Chromosome 2, 21231445: 21231445
350 APOB NM_000384.2(APOB): c.8295A> G (p.Gln2765=) single nucleotide variant Benign/Likely benign rs767506952 GRCh38 Chromosome 2, 21008573: 21008573
351 APOB NM_000384.2(APOB): c.7201G> C (p.Val2401Leu) single nucleotide variant Uncertain significance rs569794936 GRCh38 Chromosome 2, 21009667: 21009667
352 APOB NM_000384.2(APOB): c.7201G> C (p.Val2401Leu) single nucleotide variant Uncertain significance rs569794936 GRCh37 Chromosome 2, 21232539: 21232539
353 APOB NM_000384.2(APOB): c.6261C> A (p.Thr2087=) single nucleotide variant Benign/Likely benign rs61744855 GRCh38 Chromosome 2, 21010607: 21010607
354 APOB NM_000384.2(APOB): c.6261C> A (p.Thr2087=) single nucleotide variant Benign/Likely benign rs61744855 GRCh37 Chromosome 2, 21233479: 21233479
355 APOB NM_000384.2(APOB): c.5706G> A (p.Pro1902=) single nucleotide variant Likely benign rs145277222 GRCh37 Chromosome 2, 21234034: 21234034
356 APOB NM_000384.2(APOB): c.5706G> A (p.Pro1902=) single nucleotide variant Likely benign rs145277222 GRCh38 Chromosome 2, 21011162: 21011162
357 APOB NM_000384.2(APOB): c.2949C> T (p.Asn983=) single nucleotide variant Likely benign rs760094793 GRCh37 Chromosome 2, 21242645: 21242645
358 APOB NM_000384.2(APOB): c.2949C> T (p.Asn983=) single nucleotide variant Likely benign rs760094793 GRCh38 Chromosome 2, 21019773: 21019773
359 APOB NM_000384.2(APOB): c.1199G> A (p.Arg400His) single nucleotide variant Conflicting interpretations of pathogenicity rs530171166 GRCh38 Chromosome 2, 21032507: 21032507
360 APOB NM_000384.2(APOB): c.1199G> A (p.Arg400His) single nucleotide variant Conflicting interpretations of pathogenicity rs530171166 GRCh37 Chromosome 2, 21255379: 21255379
361 APOB NM_000384.2(APOB): c.434C> T (p.Pro145Leu) single nucleotide variant Uncertain significance rs181737266 GRCh38 Chromosome 2, 21038061: 21038061
362 APOB NM_000384.2(APOB): c.434C> T (p.Pro145Leu) single nucleotide variant Uncertain significance rs181737266 GRCh37 Chromosome 2, 21260933: 21260933
363 APOB NM_000384.2(APOB): c.12699G> A (p.Ser4233=) single nucleotide variant Benign/Likely benign rs56675344 GRCh38 Chromosome 2, 21002723: 21002723
364 APOB NM_000384.2(APOB): c.12699G> A (p.Ser4233=) single nucleotide variant Benign/Likely benign rs56675344 GRCh37 Chromosome 2, 21225595: 21225595
365 APOB NM_000384.2(APOB): c.12220G> A (p.Val4074Met) single nucleotide variant Uncertain significance rs1038411462 GRCh38 Chromosome 2, 21003202: 21003202
366 APOB NM_000384.2(APOB): c.12220G> A (p.Val4074Met) single nucleotide variant Uncertain significance rs1038411462 GRCh37 Chromosome 2, 21226074: 21226074
367 APOB NM_000384.2(APOB): c.12088-10C> T single nucleotide variant Likely benign rs1193057149 GRCh38 Chromosome 2, 21003344: 21003344
368 APOB NM_000384.2(APOB): c.12088-10C> T single nucleotide variant Likely benign rs1193057149 GRCh37 Chromosome 2, 21226216: 21226216
369 APOB NM_000384.2(APOB): c.11720A> G (p.Asp3907Gly) single nucleotide variant Likely benign rs61746686 GRCh38 Chromosome 2, 21005148: 21005148
370 APOB NM_000384.2(APOB): c.11720A> G (p.Asp3907Gly) single nucleotide variant Likely benign rs61746686 GRCh37 Chromosome 2, 21228020: 21228020
371 APOB NM_000384.2(APOB): c.10876A> G (p.Thr3626Ala) single nucleotide variant Uncertain significance rs1553382890 GRCh37 Chromosome 2, 21228864: 21228864
372 APOB NM_000384.2(APOB): c.10876A> G (p.Thr3626Ala) single nucleotide variant Uncertain significance rs1553382890 GRCh38 Chromosome 2, 21005992: 21005992
373 APOB NM_000384.2(APOB): c.10479G> A (p.Glu3493=) single nucleotide variant Benign rs113096093 GRCh37 Chromosome 2, 21229261: 21229261
374 APOB NM_000384.2(APOB): c.10479G> A (p.Glu3493=) single nucleotide variant Benign rs113096093 GRCh38 Chromosome 2, 21006389: 21006389
375 APOB NM_000384.2(APOB): c.9810C> T (p.Phe3270=) single nucleotide variant Likely benign rs138010392 GRCh37 Chromosome 2, 21229930: 21229930
376 APOB NM_000384.2(APOB): c.9810C> T (p.Phe3270=) single nucleotide variant Likely benign rs138010392 GRCh38 Chromosome 2, 21007058: 21007058
377 APOB NM_000384.2(APOB): c.8499G> C (p.Lys2833Asn) single nucleotide variant Uncertain significance rs761515806 GRCh37 Chromosome 2, 21231241: 21231241
378 APOB NM_000384.2(APOB): c.8499G> C (p.Lys2833Asn) single nucleotide variant Uncertain significance rs761515806 GRCh38 Chromosome 2, 21008369: 21008369
379 APOB NM_000384.2(APOB): c.8469T> C (p.Ala2823=) single nucleotide variant Benign/Likely benign rs531216195 GRCh37 Chromosome 2, 21231271: 21231271
380 APOB NM_000384.2(APOB): c.8469T> C (p.Ala2823=) single nucleotide variant Benign/Likely benign rs531216195 GRCh38 Chromosome 2, 21008399: 21008399
381 APOB NM_000384.2(APOB): c.6765G> A (p.Lys2255=) single nucleotide variant Benign rs372343882 GRCh37 Chromosome 2, 21232975: 21232975
382 APOB NM_000384.2(APOB): c.6765G> A (p.Lys2255=) single nucleotide variant Benign rs372343882 GRCh38 Chromosome 2, 21010103: 21010103
383 APOB NM_000384.2(APOB): c.6283G> A (p.Val2095Ile) single nucleotide variant Likely benign rs200874264 GRCh37 Chromosome 2, 21233457: 21233457
384 APOB NM_000384.2(APOB): c.6283G> A (p.Val2095Ile) single nucleotide variant Likely benign rs200874264 GRCh38 Chromosome 2, 21010585: 21010585
385 APOB NM_000384.2(APOB): c.4825T> C (p.Leu1609=) single nucleotide variant Benign/Likely benign rs72653083 GRCh37 Chromosome 2, 21234915: 21234915
386 APOB NM_000384.2(APOB): c.4825T> C (p.Leu1609=) single nucleotide variant Benign/Likely benign rs72653083 GRCh38 Chromosome 2, 21012043: 21012043
387 APOB NM_000384.2(APOB): c.1053G> T (p.Leu351=) single nucleotide variant Likely benign rs772126283 GRCh37 Chromosome 2, 21256242: 21256242
388 APOB NM_000384.2(APOB): c.1053G> T (p.Leu351=) single nucleotide variant Likely benign rs772126283 GRCh38 Chromosome 2, 21033370: 21033370
389 APOB NM_000384.2(APOB): c.386A> G (p.Tyr129Cys) single nucleotide variant Uncertain significance rs201368319 GRCh37 Chromosome 2, 21260981: 21260981
390 APOB NM_000384.2(APOB): c.386A> G (p.Tyr129Cys) single nucleotide variant Uncertain significance rs201368319 GRCh38 Chromosome 2, 21038109: 21038109
391 APOB NM_000384.2(APOB): c.244C> T (p.Leu82=) single nucleotide variant Likely benign rs201658954 GRCh38 Chromosome 2, 21041077: 21041077
392 APOB NM_000384.2(APOB): c.244C> T (p.Leu82=) single nucleotide variant Likely benign rs201658954 GRCh37 Chromosome 2, 21263949: 21263949
393 APOB NM_000384.2(APOB): c.9855C> T (p.Ile3285=) single nucleotide variant Benign/Likely benign rs72654403 GRCh38 Chromosome 2, 21007013: 21007013
394 APOB NM_000384.2(APOB): c.9855C> T (p.Ile3285=) single nucleotide variant Benign/Likely benign rs72654403 GRCh37 Chromosome 2, 21229885: 21229885
395 APOB NM_000384.2(APOB): c.2630C> T (p.Pro877Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714097 GRCh38 Chromosome 2, 21023017: 21023017
396 APOB NM_000384.2(APOB): c.2630C> T (p.Pro877Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs12714097 GRCh37 Chromosome 2, 21245889: 21245889
397 APOB NM_000384.2(APOB): c.11819C> T (p.Thr3940Met) single nucleotide variant Benign/Likely benign rs72654416 GRCh37 Chromosome 2, 21227517: 21227517
398 APOB NM_000384.2(APOB): c.11819C> T (p.Thr3940Met) single nucleotide variant Benign/Likely benign rs72654416 GRCh38 Chromosome 2, 21004645: 21004645
399 APOB NC_000002.12: g.(?_21001710)_(21035728_?)del deletion Pathogenic GRCh38 Chromosome 2, 21001710: 21035728
400 APOB NC_000002.12: g.(?_21001710)_(21035728_?)del deletion Pathogenic GRCh37 Chromosome 2, 21224582: 21258600
401 APOB NM_000384.2(APOB): c.13449G> A (p.Ala4483=) single nucleotide variant Benign/Likely benign rs138421941 GRCh37 Chromosome 2, 21224845: 21224845
402 APOB NM_000384.2(APOB): c.13449G> A (p.Ala4483=) single nucleotide variant Benign/Likely benign rs138421941 GRCh38 Chromosome 2, 21001973: 21001973
403 APOB NM_000384.2(APOB): c.12739C> T (p.Gln4247Ter) single nucleotide variant Uncertain significance rs907126709 GRCh37 Chromosome 2, 21225555: 21225555
404 APOB NM_000384.2(APOB): c.12739C> T (p.Gln4247Ter) single nucleotide variant Uncertain significance rs907126709 GRCh38 Chromosome 2, 21002683: 21002683
405 APOB NM_000384.2(APOB): c.12112A> G (p.Ile4038Val) single nucleotide variant Uncertain significance rs1443981616 GRCh38 Chromosome 2, 21003310: 21003310
406 APOB NM_000384.2(APOB): c.12112A> G (p.Ile4038Val) single nucleotide variant Uncertain significance rs1443981616 GRCh37 Chromosome 2, 21226182: 21226182
407 APOB NM_000384.2(APOB): c.11733A> T (p.Thr3911=) single nucleotide variant Likely benign rs1553382722 GRCh38 Chromosome 2, 21005135: 21005135
408 APOB NM_000384.2(APOB): c.11733A> T (p.Thr3911=) single nucleotide variant Likely benign rs1553382722 GRCh37 Chromosome 2, 21228007: 21228007
409 APOB NM_000384.2(APOB): c.10276G> A (p.Ala3426Thr) single nucleotide variant Uncertain significance rs753767897 GRCh38 Chromosome 2, 21006592: 21006592
410 APOB NM_000384.2(APOB): c.10276G> A (p.Ala3426Thr) single nucleotide variant Uncertain significance rs753767897 GRCh37 Chromosome 2, 21229464: 21229464
411 APOB NM_000384.2(APOB): c.10056C> A (p.Thr3352=) single nucleotide variant Likely benign rs369022661 GRCh38 Chromosome 2, 21006812: 21006812
412 APOB NM_000384.2(APOB): c.10056C> A (p.Thr3352=) single nucleotide variant Likely benign rs369022661 GRCh37 Chromosome 2, 21229684: 21229684
413 APOB NM_000384.2(APOB): c.9080G> A (p.Gly3027Glu) single nucleotide variant Uncertain significance rs757895045 GRCh38 Chromosome 2, 21007788: 21007788
414 APOB NM_000384.2(APOB): c.9080G> A (p.Gly3027Glu) single nucleotide variant Uncertain significance rs757895045 GRCh37 Chromosome 2, 21230660: 21230660
415 APOB NM_000384.2(APOB): c.8766T> G (p.Thr2922=) single nucleotide variant Likely benign rs763285729 GRCh38 Chromosome 2, 21008102: 21008102
416 APOB NM_000384.2(APOB): c.8766T> G (p.Thr2922=) single nucleotide variant Likely benign rs763285729 GRCh37 Chromosome 2, 21230974: 21230974
417 APOB NM_000384.2(APOB): c.7648A> G (p.Ile2550Val) single nucleotide variant Uncertain significance rs147565300 GRCh37 Chromosome 2, 21232092: 21232092
418 APOB NM_000384.2(APOB): c.7648A> G (p.Ile2550Val) single nucleotide variant Uncertain significance rs147565300 GRCh38 Chromosome 2, 21009220: 21009220
419 APOB NM_000384.2(APOB): c.7587G> A (p.Gln2529=) single nucleotide variant Likely benign rs752939907 GRCh37 Chromosome 2, 21232153: 21232153
420 APOB NM_000384.2(APOB): c.7587G> A (p.Gln2529=) single nucleotide variant Likely benign rs752939907 GRCh38 Chromosome 2, 21009281: 21009281
421 APOB NM_000384.2(APOB): c.7128G> A (p.Lys2376=) single nucleotide variant Likely benign rs368448196 GRCh37 Chromosome 2, 21232612: 21232612
422 APOB NM_000384.2(APOB): c.7128G> A (p.Lys2376=) single nucleotide variant Likely benign rs368448196 GRCh38 Chromosome 2, 21009740: 21009740
423 APOB NM_000384.2(APOB): c.5183A> G (p.Asn1728Ser) single nucleotide variant Likely benign rs186346145 GRCh37 Chromosome 2, 21234557: 21234557
424 APOB NM_000384.2(APOB): c.5183A> G (p.Asn1728Ser) single nucleotide variant Likely benign rs186346145 GRCh38 Chromosome 2, 21011685: 21011685
425 APOB NM_000384.2(APOB): c.4024A> G (p.Ile1342Val) single nucleotide variant Uncertain significance rs780328279 GRCh37 Chromosome 2, 21236224: 21236224
426 APOB NM_000384.2(APOB): c.4024A> G (p.Ile1342Val) single nucleotide variant Uncertain significance rs780328279 GRCh38 Chromosome 2, 21013352: 21013352
427 APOB NM_000384.2(APOB): c.3150A> G (p.Thr1050=) single nucleotide variant Benign rs72653072 GRCh37 Chromosome 2, 21239493: 21239493
428 APOB NM_000384.2(APOB): c.3150A> G (p.Thr1050=) single nucleotide variant Benign rs72653072 GRCh38 Chromosome 2, 21016621: 21016621
429 APOB NM_000384.2(APOB): c.2841C> T (p.Thr947=) single nucleotide variant Likely benign rs72653070 GRCh38 Chromosome 2, 21019881: 21019881
430 APOB NM_000384.2(APOB): c.2841C> T (p.Thr947=) single nucleotide variant Likely benign rs72653070 GRCh37 Chromosome 2, 21242753: 21242753
431 APOB NM_000384.2(APOB): c.2550A> C (p.Ser850=) single nucleotide variant Likely benign rs146519598 GRCh37 Chromosome 2, 21246451: 21246451
432 APOB NM_000384.2(APOB): c.2550A> C (p.Ser850=) single nucleotide variant Likely benign rs146519598 GRCh38 Chromosome 2, 21023579: 21023579
433 APOB NM_000384.2(APOB): c.1605G> A (p.Glu535=) single nucleotide variant Likely benign rs763856498 GRCh37 Chromosome 2, 21252523: 21252523
434 APOB NM_000384.2(APOB): c.1605G> A (p.Glu535=) single nucleotide variant Likely benign rs763856498 GRCh38 Chromosome 2, 21029651: 21029651
435 APOB NM_000384.2(APOB): c.895T> G (p.Phe299Val) single nucleotide variant Likely benign rs72653060 GRCh38 Chromosome 2, 21034825: 21034825
436 APOB NM_000384.2(APOB): c.895T> G (p.Phe299Val) single nucleotide variant Likely benign rs72653060 GRCh37 Chromosome 2, 21257697: 21257697
437 APOB NM_000384.2(APOB): c.12536C> T (p.Thr4179Ile) single nucleotide variant Uncertain significance rs370180297 GRCh38 Chromosome 2, 21002886: 21002886
438 APOB NM_000384.2(APOB): c.12536C> T (p.Thr4179Ile) single nucleotide variant Uncertain significance rs370180297 GRCh37 Chromosome 2, 21225758: 21225758
439 APOB NM_000384.2(APOB): c.12529C> A (p.Arg4177=) single nucleotide variant Uncertain significance rs375275230 GRCh37 Chromosome 2, 21225765: 21225765
440 APOB NM_000384.2(APOB): c.12529C> A (p.Arg4177=) single nucleotide variant Uncertain significance rs375275230 GRCh38 Chromosome 2, 21002893: 21002893
441 APOB NM_000384.2(APOB): c.11934C> T (p.Ile3978=) single nucleotide variant Likely benign rs539824713 GRCh38 Chromosome 2, 21004422: 21004422
442 APOB NM_000384.2(APOB): c.11934C> T (p.Ile3978=) single nucleotide variant Likely benign rs539824713 GRCh37 Chromosome 2, 21227294: 21227294
443 APOB NM_000384.2(APOB): c.11782C> T (p.Leu3928=) single nucleotide variant Likely benign rs764635907 GRCh37 Chromosome 2, 21227958: 21227958
444 APOB NM_000384.2(APOB): c.11782C> T (p.Leu3928=) single nucleotide variant Likely benign rs764635907 GRCh38 Chromosome 2, 21005086: 21005086
445 APOB NM_000384.2(APOB): c.11568C> T (p.Ile3856=) single nucleotide variant Benign/Likely benign rs542175556 GRCh38 Chromosome 2, 21005300: 21005300
446 APOB NM_000384.2(APOB): c.11568C> T (p.Ile3856=) single nucleotide variant Benign/Likely benign rs542175556 GRCh37 Chromosome 2, 21228172: 21228172
447 APOB NM_000384.2(APOB): c.11442C> T (p.Thr3814=) single nucleotide variant Likely benign rs72654408 GRCh38 Chromosome 2, 21005426: 21005426
448 APOB NM_000384.2(APOB): c.11442C> T (p.Thr3814=) single nucleotide variant Likely benign rs72654408 GRCh37 Chromosome 2, 21228298: 21228298
449 APOB NM_000384.2(APOB): c.9975C> A (p.Thr3325=) single nucleotide variant Likely benign rs1226284347 GRCh38 Chromosome 2, 21006893: 21006893
450 APOB NM_000384.2(APOB): c.9975C> A (p.Thr3325=) single nucleotide variant Likely benign rs1226284347 GRCh37 Chromosome 2, 21229765: 21229765
451 APOB NM_000384.2(APOB): c.9930T> C (p.Pro3310=) single nucleotide variant Likely benign rs764448582 GRCh38 Chromosome 2, 21006938: 21006938
452 APOB NM_000384.2(APOB): c.9930T> C (p.Pro3310=) single nucleotide variant Likely benign rs764448582 GRCh37 Chromosome 2, 21229810: 21229810
453 APOB NM_000384.2(APOB): c.9385C> G (p.Pro3129Ala) single nucleotide variant Uncertain significance rs143933265 GRCh38 Chromosome 2, 21007483: 21007483
454 APOB NM_000384.2(APOB): c.9385C> G (p.Pro3129Ala) single nucleotide variant Uncertain significance rs143933265 GRCh37 Chromosome 2, 21230355: 21230355
455 APOB NM_000384.2(APOB): c.7794T> G (p.Pro2598=) single nucleotide variant Likely benign rs1553383444 GRCh38 Chromosome 2, 21009074: 21009074
456 APOB NM_000384.2(APOB): c.7794T> G (p.Pro2598=) single nucleotide variant Likely benign rs1553383444 GRCh37 Chromosome 2, 21231946: 21231946
457 APOB NM_000384.2(APOB): c.12784C> T (p.Leu4262=) single nucleotide variant Benign rs12713457 GRCh38 Chromosome 2, 21002638: 21002638
458 APOB NM_000384.2(APOB): c.12784C> T (p.Leu4262=) single nucleotide variant Benign rs12713457 GRCh37 Chromosome 2, 21225510: 21225510
459 APOB NM_000384.2(APOB): c.6972T> C (p.Leu2324=) single nucleotide variant Likely benign rs1553383600 GRCh37 Chromosome 2, 21232768: 21232768
460 APOB NM_000384.2(APOB): c.6972T> C (p.Leu2324=) single nucleotide variant Likely benign rs1553383600 GRCh38 Chromosome 2, 21009896: 21009896
461 APOB NM_000384.2(APOB): c.4590C> T (p.Thr1530=) single nucleotide variant Likely benign rs1420371568 GRCh38 Chromosome 2, 21012278: 21012278
462 APOB NM_000384.2(APOB): c.4590C> T (p.Thr1530=) single nucleotide variant Likely benign rs1420371568 GRCh37 Chromosome 2, 21235150: 21235150
463 APOB NM_000384.2(APOB): c.3122-6G> T single nucleotide variant Likely benign rs72653071 GRCh37 Chromosome 2, 21239527: 21239527
464 APOB NM_000384.2(APOB): c.3122-6G> T single nucleotide variant Likely benign rs72653071 GRCh38 Chromosome 2, 21016655: 21016655
465 APOB NM_000384.2(APOB): c.12343G> A (p.Val4115Ile) single nucleotide variant Uncertain significance rs765681925 GRCh38 Chromosome 2, 21003079: 21003079
466 APOB NM_000384.2(APOB): c.12343G> A (p.Val4115Ile) single nucleotide variant Uncertain significance rs765681925 GRCh37 Chromosome 2, 21225951: 21225951
467 APOB NM_000384.2(APOB): c.12038T> C (p.Met4013Thr) single nucleotide variant Uncertain significance rs144922840 GRCh38 Chromosome 2, 21004318: 21004318
468 APOB NM_000384.2(APOB): c.12038T> C (p.Met4013Thr) single nucleotide variant Uncertain significance rs144922840 GRCh37 Chromosome 2, 21227190: 21227190
469 APOB NM_000384.2(APOB): c.9937C> A (p.Leu3313Ile) single nucleotide variant Likely benign rs146687604 GRCh37 Chromosome 2, 21229803: 21229803
470 APOB NM_000384.2(APOB): c.9937C> A (p.Leu3313Ile) single nucleotide variant Likely benign rs146687604 GRCh38 Chromosome 2, 21006931: 21006931
471 APOB NM_000384.2(APOB): c.2655A> G (p.Thr885=) single nucleotide variant Likely benign rs368844493 GRCh38 Chromosome 2, 21022992: 21022992
472 APOB NM_000384.2(APOB): c.2655A> G (p.Thr885=) single nucleotide variant Likely benign rs368844493 GRCh37 Chromosome 2, 21245864: 21245864
473 APOB NM_000384.2(APOB): c.9354T> C (p.Asn3118=) single nucleotide variant Likely benign rs1553383179 GRCh37 Chromosome 2, 21230386: 21230386
474 APOB NM_000384.2(APOB): c.9354T> C (p.Asn3118=) single nucleotide variant Likely benign rs1553383179 GRCh38 Chromosome 2, 21007514: 21007514
475 APOB NM_000384.2(APOB): c.9140C> G (p.Thr3047Arg) single nucleotide variant Benign/Likely benign rs61742323 GRCh38 Chromosome 2, 21007728: 21007728
476 APOB NM_000384.2(APOB): c.9140C> G (p.Thr3047Arg) single nucleotide variant Benign/Likely benign rs61742323 GRCh37 Chromosome 2, 21230600: 21230600
477 APOB NM_000384.2(APOB): c.9115_9119delTTTTC (p.Phe3039Serfs) deletion Pathogenic rs1215189537 GRCh38 Chromosome 2, 21007749: 21007753
478 APOB NM_000384.2(APOB): c.9115_9119delTTTTC (p.Phe3039Serfs) deletion Pathogenic rs1215189537 GRCh37 Chromosome 2, 21230621: 21230625
479 APOB NM_000384.2(APOB): c.8187_8193delTGATTTTinsAGATTTA (p.Asn2729_Phe2731delinsLysAspLeu) indel Uncertain significance rs1553383380 GRCh38 Chromosome 2, 21008675: 21008681
480 APOB NM_000384.2(APOB): c.8187_8193delTGATTTTinsAGATTTA (p.Asn2729_Phe2731delinsLysAspLeu) indel Uncertain significance rs1553383380 GRCh37 Chromosome 2, 21231547: 21231553
481 APOB NM_000384.2(APOB): c.6390T> C (p.Asn2130=) single nucleotide variant Likely benign rs570798466 GRCh38 Chromosome 2, 21010478: 21010478
482 APOB NM_000384.2(APOB): c.6390T> C (p.Asn2130=) single nucleotide variant Likely benign rs570798466 GRCh37 Chromosome 2, 21233350: 21233350
483 APOB NM_000384.2(APOB): c.5145G> A (p.Gln1715=) single nucleotide variant Likely benign rs1553383921 GRCh38 Chromosome 2, 21011723: 21011723
484 APOB NM_000384.2(APOB): c.5145G> A (p.Gln1715=) single nucleotide variant Likely benign rs1553383921 GRCh37 Chromosome 2, 21234595: 21234595
485 APOB NM_000384.2(APOB): c.4796G> A (p.Arg1599His) single nucleotide variant Likely benign rs746414462 GRCh38 Chromosome 2, 21012072: 21012072
486 APOB NM_000384.2(APOB): c.4796G> A (p.Arg1599His) single nucleotide variant Likely benign rs746414462 GRCh37 Chromosome 2, 21234944: 21234944
487 APOB NM_000384.2(APOB): c.3279C> G (p.Thr1093=) single nucleotide variant Benign rs72653075 GRCh37 Chromosome 2, 21239364: 21239364
488 APOB NM_000384.2(APOB): c.3279C> G (p.Thr1093=) single nucleotide variant Benign rs72653075 GRCh38 Chromosome 2, 21016492: 21016492
489 APOB NM_000384.2(APOB): c.3081A> G (p.Arg1027=) single nucleotide variant Likely benign rs750932563 GRCh38 Chromosome 2, 21019032: 21019032
490 APOB NM_000384.2(APOB): c.3081A> G (p.Arg1027=) single nucleotide variant Likely benign rs750932563 GRCh37 Chromosome 2, 21241904: 21241904
491 APOB NM_000384.2(APOB): c.1993A> T (p.Asn665Tyr) single nucleotide variant Uncertain significance rs755666654 GRCh38 Chromosome 2, 21027902: 21027902
492 APOB NM_000384.2(APOB): c.1993A> T (p.Asn665Tyr) single nucleotide variant Uncertain significance rs755666654 GRCh37 Chromosome 2, 21250774: 21250774
493 APOB NM_000384.2(APOB): c.12803T> C (p.Met4268Thr) single nucleotide variant Benign/Likely benign rs72654422 GRCh37 Chromosome 2, 21225491: 21225491
494 APOB NM_000384.2(APOB): c.12803T> C (p.Met4268Thr) single nucleotide variant Benign/Likely benign rs72654422 GRCh38 Chromosome 2, 21002619: 21002619
495 APOB NM_000384.2(APOB): c.11676C> T (p.Pro3892=) single nucleotide variant Likely benign rs762760699 GRCh37 Chromosome 2, 21228064: 21228064
496 APOB NM_000384.2(APOB): c.11676C> T (p.Pro3892=) single nucleotide variant Likely benign rs762760699 GRCh38 Chromosome 2, 21005192: 21005192
497 APOB NM_000384.2(APOB): c.10701G> T (p.Thr3567=) single nucleotide variant Likely benign rs12713558 GRCh38 Chromosome 2, 21006167: 21006167
498 APOB NM_000384.2(APOB): c.10701G> T (p.Thr3567=) single nucleotide variant Likely benign rs12713558 GRCh37 Chromosome 2, 21229039: 21229039
499 APOB NM_000384.2(APOB): c.8309C> T (p.Thr2770Ile) single nucleotide variant Likely benign rs138391809 GRCh38 Chromosome 2, 21008559: 21008559
500 APOB NM_000384.2(APOB): c.8309C> T (p.Thr2770Ile) single nucleotide variant Likely benign rs138391809 GRCh37 Chromosome 2, 21231431: 21231431
501 APOB NM_000384.2(APOB): c.7683T> C (p.Leu2561=) single nucleotide variant Likely benign rs781283777 GRCh37 Chromosome 2, 21232057: 21232057
502 APOB NM_000384.2(APOB): c.7683T> C (p.Leu2561=) single nucleotide variant Likely benign rs781283777 GRCh38 Chromosome 2, 21009185: 21009185
503 APOB NM_000384.2(APOB): c.7605C> A (p.Tyr2535Ter) single nucleotide variant Pathogenic rs1553383473 GRCh38 Chromosome 2, 21009263: 21009263
504 APOB NM_000384.2(APOB): c.7605C> A (p.Tyr2535Ter) single nucleotide variant Pathogenic rs1553383473 GRCh37 Chromosome 2, 21232135: 21232135
505 APOB NM_000384.2(APOB): c.7011C> T (p.Phe2337=) single nucleotide variant Likely benign rs776099551 GRCh37 Chromosome 2, 21232729: 21232729
506 APOB NM_000384.2(APOB): c.7011C> T (p.Phe2337=) single nucleotide variant Likely benign rs776099551 GRCh38 Chromosome 2, 21009857: 21009857
507 APOB NM_000384.2(APOB): c.3971A> C (p.Lys1324Thr) single nucleotide variant Likely benign rs763846768 GRCh38 Chromosome 2, 21013405: 21013405
508 APOB NM_000384.2(APOB): c.3971A> C (p.Lys1324Thr) single nucleotide variant Likely benign rs763846768 GRCh37 Chromosome 2, 21236277: 21236277
509 APOB NM_000384.2(APOB): c.3283G> A (p.Asp1095Asn) single nucleotide variant Uncertain significance rs1377332778 GRCh37 Chromosome 2, 21239360: 21239360
510 APOB NM_000384.2(APOB): c.3283G> A (p.Asp1095Asn) single nucleotide variant Uncertain significance rs1377332778 GRCh38 Chromosome 2, 21016488: 21016488
511 APOB NM_000384.2(APOB): c.3256G> A (p.Gly1086Ser) single nucleotide variant Likely benign rs12720801 GRCh37 Chromosome 2, 21239387: 21239387
512 APOB NM_000384.2(APOB): c.3256G> A (p.Gly1086Ser) single nucleotide variant Likely benign rs12720801 GRCh38 Chromosome 2, 21016515: 21016515
513 APOB NM_000384.2(APOB): c.2994C> T (p.Asp998=) single nucleotide variant Likely benign rs777501128 GRCh37 Chromosome 2, 21242600: 21242600
514 APOB NM_000384.2(APOB): c.2994C> T (p.Asp998=) single nucleotide variant Likely benign rs777501128 GRCh38 Chromosome 2, 21019728: 21019728
515 APOB NM_000384.2(APOB): c.2295G> A (p.Leu765=) single nucleotide variant Benign rs72653063 GRCh37 Chromosome 2, 21247946: 21247946
516 APOB NM_000384.2(APOB): c.2295G> A (p.Leu765=) single nucleotide variant Benign rs72653063 GRCh38 Chromosome 2, 21025074: 21025074
517 APOB NM_000384.2(APOB): c.1741C> T (p.Leu581=) single nucleotide variant Likely benign rs775852055 GRCh37 Chromosome 2, 21251287: 21251287
518 APOB NM_000384.2(APOB): c.1741C> T (p.Leu581=) single nucleotide variant Likely benign rs775852055 GRCh38 Chromosome 2, 21028415: 21028415
519 APOB NM_000384.2(APOB): c.1470+8C> T single nucleotide variant Likely benign rs779326198 GRCh37 Chromosome 2, 21252762: 21252762
520 APOB NM_000384.2(APOB): c.1470+8C> T single nucleotide variant Likely benign rs779326198 GRCh38 Chromosome 2, 21029890: 21029890
521 APOB NM_000384.2(APOB): c.925G> A (p.Ala309Thr) single nucleotide variant Uncertain significance rs141888564 GRCh37 Chromosome 2, 21256370: 21256370
522 APOB NM_000384.2(APOB): c.925G> A (p.Ala309Thr) single nucleotide variant Uncertain significance rs141888564 GRCh38 Chromosome 2, 21033498: 21033498
523 APOB NM_000384.2(APOB): c.465C> T (p.Asn155=) single nucleotide variant Likely benign rs1195121842 GRCh38 Chromosome 2, 21038030: 21038030
524 APOB NM_000384.2(APOB): c.465C> T (p.Asn155=) single nucleotide variant Likely benign rs1195121842 GRCh37 Chromosome 2, 21260902: 21260902
525 APOB NM_000384.2(APOB): c.420G> A (p.Gln140=) single nucleotide variant Likely benign rs758439614 GRCh37 Chromosome 2, 21260947: 21260947
526 APOB NM_000384.2(APOB): c.420G> A (p.Gln140=) single nucleotide variant Likely benign rs758439614 GRCh38 Chromosome 2, 21038075: 21038075
527 APOB NM_000384.2(APOB): c.9738T> G (p.Phe3246Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21007130: 21007130
528 APOB NM_000384.2(APOB): c.9738T> G (p.Phe3246Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21230002: 21230002
529 APOB NM_000384.2(APOB): c.9200A> T (p.Lys3067Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21007668: 21007668
530 APOB NM_000384.2(APOB): c.9200A> T (p.Lys3067Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21230540: 21230540
531 APOB NM_000384.2(APOB): c.7727G> A (p.Arg2576His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21009141: 21009141
532 APOB NM_000384.2(APOB): c.7727G> A (p.Arg2576His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21232013: 21232013
533 APOB NM_000384.2(APOB): c.5989G> A (p.Asp1997Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21010879: 21010879
534 APOB NM_000384.2(APOB): c.5989G> A (p.Asp1997Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21233751: 21233751
535 APOB NM_000384.2(APOB): c.12724C> A (p.Leu4242Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21225570: 21225570
536 APOB NM_000384.2(APOB): c.12724C> A (p.Leu4242Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21002698: 21002698
537 APOB NM_000384.2(APOB): c.12457C> A (p.Gln4153Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21002965: 21002965
538 APOB NM_000384.2(APOB): c.12457C> A (p.Gln4153Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21225837: 21225837
539 APOB NM_000384.2(APOB): c.12416G> A (p.Gly4139Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21003006: 21003006
540 APOB NM_000384.2(APOB): c.12416G> A (p.Gly4139Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21225878: 21225878
541 APOB NM_000384.2(APOB): c.4056_4064dup (p.Leu1356_Asp1357insGlyValLeu) duplication Uncertain significance GRCh37 Chromosome 2, 21236184: 21236192
542 APOB NM_000384.2(APOB): c.4056_4064dup (p.Leu1356_Asp1357insGlyValLeu) duplication Uncertain significance GRCh38 Chromosome 2, 21013312: 21013320
543 APOB NM_000384.2(APOB): c.1577C> T (p.Ala526Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21029679: 21029679
544 APOB NM_000384.2(APOB): c.1577C> T (p.Ala526Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21252551: 21252551
545 APOB NM_000384.2(APOB): c.890G> A (p.Arg297His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21257702: 21257702
546 APOB NM_000384.2(APOB): c.890G> A (p.Arg297His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21034830: 21034830
547 APOB NM_000384.2(APOB): c.721A> T (p.Ser241Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21035681: 21035681
548 APOB NM_000384.2(APOB): c.721A> T (p.Ser241Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21258553: 21258553
549 APOB NM_000384.2(APOB): c.413G> A (p.Gly138Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21260954: 21260954
550 APOB NM_000384.2(APOB): c.413G> A (p.Gly138Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21038082: 21038082
551 APOB NM_000384.2(APOB): c.10678T> C (p.Tyr3560His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21229062: 21229062
552 APOB NM_000384.2(APOB): c.10678T> C (p.Tyr3560His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21006190: 21006190
553 APOB NM_000384.2(APOB): c.10146G> C (p.Glu3382Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21006722: 21006722
554 APOB NM_000384.2(APOB): c.10146G> C (p.Glu3382Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21229594: 21229594
555 APOB NM_000384.2(APOB): c.7759G> C (p.Val2587Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21009109: 21009109
556 APOB NM_000384.2(APOB): c.7759G> C (p.Val2587Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21231981: 21231981
557 APOB NM_000384.2(APOB): c.5137G> T (p.Ala1713Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21234603: 21234603
558 APOB NM_000384.2(APOB): c.5137G> T (p.Ala1713Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21011731: 21011731
559 APOB NM_000384.2(APOB): c.2978A> G (p.Tyr993Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21242616: 21242616
560 APOB NM_000384.2(APOB): c.2978A> G (p.Tyr993Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21019744: 21019744
561 APOB NM_000384.2(APOB): c.2849C> T (p.Thr950Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21019873: 21019873
562 APOB NM_000384.2(APOB): c.2849C> T (p.Thr950Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21242745: 21242745
563 APOB NM_000384.2(APOB): c.2414C> G (p.Thr805Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21247827: 21247827
564 APOB NM_000384.2(APOB): c.2414C> G (p.Thr805Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21024955: 21024955
565 APOB NM_000384.2(APOB): c.1077T> G (p.Ser359Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21256218: 21256218
566 APOB NM_000384.2(APOB): c.1077T> G (p.Ser359Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21033346: 21033346
567 APOB NM_000384.2(APOB): c.11789-1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 21004676: 21004676
568 APOB NM_000384.2(APOB): c.11789-1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 21227548: 21227548
569 APOB NM_000384.2(APOB): c.10777C> G (p.Pro3593Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21006091: 21006091
570 APOB NM_000384.2(APOB): c.10777C> G (p.Pro3593Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21228963: 21228963
571 APOB NM_000384.2(APOB): c.6543delT (p.Phe2181Leufs) deletion Pathogenic GRCh37 Chromosome 2, 21233197: 21233197
572 APOB NM_000384.2(APOB): c.6543delT (p.Phe2181Leufs) deletion Pathogenic GRCh38 Chromosome 2, 21010325: 21010325
573 APOB NM_000384.2(APOB): c.5822C> T (p.Thr1941Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21011046: 21011046
574 APOB NM_000384.2(APOB): c.5822C> T (p.Thr1941Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21233918: 21233918
575 APOB NM_000384.2(APOB): c.5269C> G (p.Leu1757Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21011599: 21011599
576 APOB NM_000384.2(APOB): c.5269C> G (p.Leu1757Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21234471: 21234471
577 APOB NM_000384.2(APOB): c.4983G> C (p.Lys1661Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21234757: 21234757
578 APOB NM_000384.2(APOB): c.4983G> C (p.Lys1661Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21011885: 21011885
579 APOB NM_000384.2(APOB): c.4503T> G (p.Tyr1501Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 21235237: 21235237
580 APOB NM_000384.2(APOB): c.4503T> G (p.Tyr1501Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 21012365: 21012365
581 APOB NM_000384.2(APOB): c.2386G> C (p.Gly796Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21247855: 21247855
582 APOB NM_000384.2(APOB): c.2386G> C (p.Gly796Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21024983: 21024983
583 APOB NM_000384.2(APOB): c.1010T> A (p.Ile337Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 21256285: 21256285
584 APOB NM_000384.2(APOB): c.1010T> A (p.Ile337Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 21033413: 21033413

Expression for Hypercholesterolemia, Autosomal Dominant, Type B

Search GEO for disease gene expression data for Hypercholesterolemia, Autosomal Dominant, Type B.

Pathways for Hypercholesterolemia, Autosomal Dominant, Type B

Pathways related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

(showing 9, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 APOB APOE LDLR
2
Show member pathways
12.1 APOB APOE LDLR
3
Show member pathways
11.97 APOB APOE LDLR
4
Show member pathways
11.83 APOB LDLR
5
Show member pathways
11.67 APOB APOE LDLR
6
Show member pathways
11.46 APOB APOE LDLR
7
Show member pathways
11.42 APOB APOE
8 10.87 APOE LDLR
9
Show member pathways
10.87 APOB APOE LDLR

GO Terms for Hypercholesterolemia, Autosomal Dominant, Type B

Cellular components related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.5 APOB APOE LDLR
2 endosome membrane GO:0010008 9.43 APOB LDLR
3 very-low-density lipoprotein particle GO:0034361 9.4 APOB APOE
4 endocytic vesicle lumen GO:0071682 9.37 APOB APOE
5 chylomicron GO:0042627 9.26 APOB APOE
6 intermediate-density lipoprotein particle GO:0034363 9.16 APOB APOE
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 APOB APOE LDLR
8 low-density lipoprotein particle GO:0034362 8.8 APOB APOE LDLR

Biological processes related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

(showing 29, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 APOB APOE LDLR
2 receptor-mediated endocytosis GO:0006898 9.71 APOB APOE LDLR
3 negative regulation of gene expression GO:0010629 9.64 APOE LDLR
4 cellular protein metabolic process GO:0044267 9.64 APOB APOE
5 membrane organization GO:0061024 9.63 APOB LDLR
6 retinoid metabolic process GO:0001523 9.63 APOB APOE
7 long-term memory GO:0007616 9.62 APOE LDLR
8 cholesterol transport GO:0030301 9.61 APOB LDLR
9 triglyceride catabolic process GO:0019433 9.61 APOB APOE
10 lipid transport GO:0006869 9.61 APOB APOE LDLR
11 cholesterol efflux GO:0033344 9.59 APOB APOE
12 low-density lipoprotein particle clearance GO:0034383 9.58 APOB LDLR
13 artery morphogenesis GO:0048844 9.58 APOB APOE
14 steroid metabolic process GO:0008202 9.58 APOB APOE LDLR
15 low-density lipoprotein particle remodeling GO:0034374 9.57 APOB APOE
16 regulation of cholesterol metabolic process GO:0090181 9.56 APOE LDLR
17 regulation of protein metabolic process GO:0051246 9.55 APOE LDLR
18 cholesterol homeostasis GO:0042632 9.54 APOB APOE LDLR
19 chylomicron assembly GO:0034378 9.52 APOB APOE
20 high-density lipoprotein particle clearance GO:0034384 9.51 APOE LDLR
21 cholesterol metabolic process GO:0008203 9.5 APOB APOE LDLR
22 chylomicron remodeling GO:0034371 9.49 APOB APOE
23 lipoprotein biosynthetic process GO:0042158 9.48 APOB APOE
24 very-low-density lipoprotein particle clearance GO:0034447 9.46 APOB APOE
25 lipoprotein metabolic process GO:0042157 9.33 APOB APOE LDLR
26 positive regulation of endocytosis GO:0045807 9.3 APOE
27 response to caloric restriction GO:0061771 9.26 APOE LDLR
28 chylomicron remnant clearance GO:0034382 9.13 APOB APOE LDLR
29 lipoprotein catabolic process GO:0042159 8.8 APOB APOE LDLR

Molecular functions related to Hypercholesterolemia, Autosomal Dominant, Type B according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.37 APOB APOE
2 phospholipid binding GO:0005543 9.32 APOB APOE
3 amyloid-beta binding GO:0001540 9.26 APOE LDLR
4 lipid transporter activity GO:0005319 9.16 APOB APOE
5 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB APOE
6 cholesterol transporter activity GO:0017127 8.62 APOB APOE

Sources for Hypercholesterolemia, Autosomal Dominant, Type B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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