APOB — 4897 ClinVar variants

All ClinVar germline APOB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2165 flagged for review →

145 Pathogenic · 24 Pathogenic/Likely pathogenic · 69 Likely pathogenic · 814 Conflicting · 60 Benign · 92 Benign/Likely benign · 1697 Likely benign · 1996 Uncertain significance

Full APOB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2165

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

APOB p.Arg3527Gln Pathogenic/Likely pathogenic Multiple submitters
homozygous familial hypercholesterolemia
APOB p.Arg3527Trp Pathogenic/Likely pathogenic Multiple submitters
homozygous familial hypercholesterolemia
APOB p.Ala3396Thr Likely pathogenic Single submitter
APOB-related disorder
APOB p.Ile1839Thr Likely pathogenic No assertion criteria
familial hypercholesterolemia
APOB p.Ile4407Thr Pathogenic No assertion criteria
hypercholesterolemia, familial, 1

Predictors agree, ClinVar conflicts 573

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 573

APOB p.Ala1018Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala1139Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala134Ser Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala1371Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala1393Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala1559Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala1643Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala1643Val Conflicting Single submitter
familial hypercholesterolemia
APOB p.Ala1680Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala1713Ser Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala1873Thr Conflicting Single submitter
APOB-related disorder
APOB p.Ala2336Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala2365Val Conflicting Single submitter
familial hypercholesterolemia
APOB p.Ala2456Asp Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala2574Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala2717Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala2858Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala309Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3277Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3354Gly Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3426Thr Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Ala3473Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3514Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3517Thr Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3604Glu Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3621Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3780Ser Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3780Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala3848Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala4002Val Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Ala403Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala4119Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala4481Thr Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala4483Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala448Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala448Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala651Pro Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala679Pro Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala73Asp Conflicting Single submitter
familial hypercholesterolemia
APOB p.Ala803Thr Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala871Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala980Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala984Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ala990Thr Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg1027Thr Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg1091Gly Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1128Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1128His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1164Gly Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1164Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1224Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1224Trp Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg1284Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1284Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1386Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1388Cys Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg1388His Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg1427Cys Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg1513Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1599Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1599His Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg1599Leu Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1610Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1689Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1689His Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg1815Trp Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg1867Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1867Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1897Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg1897His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2012Gln Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg214Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg214Leu Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg219Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg219Leu Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg2219Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2219His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg233His Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg2444Cys Conflicting Single submitter
hypercholesterolemia, familial, 1
APOB p.Arg2520Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2522Gln Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg2534Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2576Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2576Gly Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2576His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2712Cys Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg2712His Conflicting Single submitter
familial hypercholesterolemia
APOB p.Arg2907Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg2907His Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg2969Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg3059Cys Conflicting Single submitter
homozygous familial hypercholesterolemia
APOB p.Arg3059His Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg3136Cys Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg3136His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg3206Gly Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg3291Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg3698Gly Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg3886Cys Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg3989Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg3989His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg400Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg4046Gln Conflicting Single submitter
familial hypercholesterolemia
APOB p.Arg4046Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg4129Ser Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg4177Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg427Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg4297Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg4297His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg434Ser Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg437Cys Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg437His Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg4385His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg439Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg45Gly Conflicting Single submitter
familial hypercholesterolemia
APOB p.Arg50Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg635Gln Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg635Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg778Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg778His Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg804His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn1080Ser Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn118Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn1276Lys Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn1585Asp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn1585Ile Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn1694Ser Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn1728Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn1810Ser Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn1884Asp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn2130Ser Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn2323Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn2417His Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn2879Tyr Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn2961Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn2971Thr Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn3026Ile Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn3099Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3107Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3211Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3214Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3257Ser Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn3580Lys Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn3580Ser Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3628Tyr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3845Asp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3977His Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn575Lys Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn665Tyr Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asn886Ser Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Asp1026Gly Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B

Predicted LoF vs a conflicting call 6

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

APOB p.Arg4177Ter Conflicting Single submitter
Cardiovascular phenotype
APOB p.Arg558Ter Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Glu4441fs Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Leu12fs Conflicting Single submitter
hypercholesterolemia, familial, 1
APOB p.Tyr4232Ter Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Tyr4343fs Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 1468

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1468

APOB p.Ala1144Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala1320Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala134Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala1695Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala1901Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala1975Ser Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala2510Val Uncertain significance Multiple submitters
APOB p.Ala3008Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala3015Thr Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Ala309Ser Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3175Ser Uncertain significance Multiple submitters
APOB p.Ala3587Thr Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3837Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala3848Val Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala4112Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala4148Asp Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Ala527Val Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala552Asp Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala68Thr Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Ala835Gly Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg1134Gly Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Arg128Gly Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Arg1333Gly Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Arg233Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Arg2449Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Arg3311Ile Uncertain significance Multiple submitters
familial hypercholesterolemia
APOB p.Arg3437Lys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Arg3952His Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg4098Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Arg4385Cys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Arg4446Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Arg818Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn1183Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn1515Ser Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asn1575Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn1575Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn1669Ser Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn1988Asp Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asn2084Lys Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn2103Ser Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asn2123Ser Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asn2251Ser Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asn2727Lys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asn4086Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn4327Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn4431Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asn602Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp1070Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp1072Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp1072His Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asp1282Asn Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asp1394Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp148Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp1752Asn Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asp1771Glu Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asp2105Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp2124Asn Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asp2124Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp2203Gly Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asp2237Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp2710Val Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Asp3240Glu Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asp3499Gly Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asp3691Asn Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Asp3833Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp3993Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp4127Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp4390His Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp4522Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Asp610Gly Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
APOB p.Asp744Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gln1239His Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Gln2183Arg Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Gln3378Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gln3645Pro Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Gln4180Lys Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Gln845His Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gln96Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu1172Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2214Lys Uncertain significance Multiple submitters
APOB p.Glu2264Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2315Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2458Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2498Ala Uncertain significance Multiple submitters
familial hypercholesterolemia
APOB p.Glu2683Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2798Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2802Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2939Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu2951Lys Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Glu29Lys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Glu3120Asp Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Glu4042Asp Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Glu4050Lys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Glu4061Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu4404Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu4558Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Glu462Gly Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Glu605Lys Uncertain significance Multiple submitters
familial hypercholesterolemia
APOB p.Gly1041Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gly1122Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gly1283Cys Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Gly1720Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gly3575Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gly3617Asp Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Gly63Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Gly729Asp Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.His1910Tyr Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.His2280Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His2342Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His2507Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His2748Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His3365Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His3365Tyr Uncertain significance Multiple submitters
familial hypercholesterolemia
APOB p.His402Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His4357Arg Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.His48Leu Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.His596Leu Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Ile1011Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile1273Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2156Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2156Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2206Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile222Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2233Thr Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ile2236Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2276Thr Uncertain significance Multiple submitters
familial hypercholesterolemia
APOB p.Ile228Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2397Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2639Met Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2761Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile3228Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile3265Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile3696Met Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Ile3696Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile3864Val Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Ile4241Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile4333Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile4535Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile817Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile957Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Leu11Pro Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Leu1345Trp Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Leu2191Ser Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Leu2393Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Leu2703Val Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Leu2726Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Leu2743Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Leu2771Phe Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Leu3190Val Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Leu3924Val Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 113

The independent predictors disagree with each other — read with care.

APOB p.Ala3048Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala381Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala526Val Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg3558Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Arg558Gln Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Gly1424Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.His596Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile2652Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile3559Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ile4054Thr Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Leu3521Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Leu827Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Lys2139Asn Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Phe1035Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Phe1051Leu Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Phe1455Leu Uncertain significance Multiple submitters
hypercholesterolemia, autosomal dominant, type B
APOB p.Phe270Leu Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Pro3678Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ser2885Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ser3456Phe Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
APOB p.Thr3385Lys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Thr840Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Trp2929Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Trp4144Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Tyr1373His Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Tyr3096Cys Uncertain significance Multiple submitters
familial hypobetalipoproteinemia 1
APOB p.Tyr3462Cys Benign/Likely benign Multiple submitters
Cardiovascular phenotype
APOB p.Tyr3520Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
APOB p.Ala200Thr Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala2463Pro Uncertain significance Single submitter
APOB p.Ala2791Pro Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Ala3041Pro Uncertain significance Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3085Glu Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Ala3175Pro Likely benign Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ala3956Pro Uncertain significance Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Arg1224Pro Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg3527Leu Likely pathogenic Single submitter
familial hypobetalipoproteinemia 1
APOB p.Arg400His Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn2961Ile Conflicting Single submitter
Cardiovascular phenotype
APOB p.Asn3035Lys Uncertain significance Single submitter
APOB p.Asn599Asp Uncertain significance Single submitter
APOB p.Asn599Thr Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Asp2664Glu Benign Single submitter
familial hypobetalipoproteinemia 1
APOB p.Cys1422Arg Likely benign Single submitter
familial hypobetalipoproteinemia 1
APOB p.Gln1603Pro Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Gln2809Pro Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Gln529Lys Uncertain significance Single submitter
APOB p.Glu3484Gly Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Glu3493Ala Uncertain significance Single submitter
familial hypercholesterolemia
APOB p.Glu3493Lys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Gly1529Asp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Gly1617Glu Conflicting Single submitter
Cardiovascular phenotype
APOB p.Gly1812Trp Conflicting Single submitter
Cardiovascular phenotype
APOB p.Gly1979Asp Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Gly2584Val Conflicting Single submitter
Cardiovascular phenotype
APOB p.Gly2797Glu Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Gly2998Asp Uncertain significance Single submitter
APOB p.Gly3019Glu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Gly3947Glu Conflicting Single submitter
Cardiovascular phenotype
APOB p.His1641Gln Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Ile1836Arg Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Ile2054Asn Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ile2963Thr Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Ile3732Thr Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Ile3768Thr Conflicting Single submitter
APOB-related disorder
APOB p.Ile3770Ser Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Ile523Thr Conflicting Single submitter
Cardiovascular phenotype
APOB p.Leu1550Arg Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Leu1770Pro Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Leu2269Pro Uncertain significance Single submitter
APOB p.Leu2913Pro Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Leu3444His Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Leu3562Pro Uncertain significance Single submitter
APOB p.Leu358His Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Leu3690Gln Uncertain significance Single submitter
APOB p.Lys3394Asn Pathogenic Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Lys3449Glu Uncertain significance Single submitter
APOB p.Met566Ile Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe1335Leu Benign Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Phe2564Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe2585Leu Uncertain significance Single submitter
APOB p.Phe2612Ser Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe2806Ser Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe299Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe3150Leu Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Phe3246Leu Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Phe3440Val Uncertain significance Single submitter
APOB p.Phe3749Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe3753Leu Conflicting Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Phe3779Leu Uncertain significance Single submitter
APOB p.Phe3869Leu Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Phe4202Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe4443Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Phe548Leu Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Phe633Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Pro3434Leu Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Pro554Arg Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Pro554Leu Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ser1152Pro Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Ser2831Pro Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Ser3040Pro Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ser3491Phe Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Ser3585Arg Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Thr1686Lys Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Thr1911Arg Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Thr3050Lys Uncertain significance Single submitter
familial hypobetalipoproteinemia 1
APOB p.Thr3754Ile Conflicting Single submitter
Cardiovascular phenotype
APOB p.Tyr1563His Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Tyr3489Ser Uncertain significance Single submitter
Cardiovascular phenotype
APOB p.Tyr3560Cys Conflicting Single submitter
familial hypobetalipoproteinemia 1
APOB p.Tyr3560His Uncertain significance Single submitter
hypercholesterolemia, autosomal dominant, type B
APOB p.Tyr637Cys Conflicting Single submitter
Cardiovascular phenotype
APOB p.Ser1524Phe Likely pathogenic No assertion criteria
familial hypobetalipoproteinemia 1

All APOB variants

Pathogenic 145

c.1830-1G>A Multiple submitters familial hypobetalipoproteinemia 1
p.Arg1333Ter Multiple submitters familial hypobetalipoproteinemia 1
p.Arg2012Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg2513Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg2520Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg2534Ter Multiple submitters hypobetalipoproteinemia
p.Arg439Ter Multiple submitters Cardiovascular phenotype
p.Arg45Ter Multiple submitters familial hypobetalipoproteinemia 1
p.Asn1755fs Multiple submitters familial hypobetalipoproteinemia 1
p.Asn3211fs Multiple submitters familial hypobetalipoproteinemia 1
p.Gln1336Ter Multiple submitters Cardiovascular phenotype
p.Gln1551Ter Multiple submitters familial hypobetalipoproteinemia 1
p.Gln2455Ter Multiple submitters Cardiovascular phenotype
p.Gln2567Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Glu2798Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.His2227fs Multiple submitters familial hypobetalipoproteinemia 1
p.Lys3067fs Multiple submitters familial hypobetalipoproteinemia 1
p.Phe3708fs Multiple submitters familial hypobetalipoproteinemia 1
p.Phe705fs Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ser3777Ter Multiple submitters
c.11789-2A>C Single submitter hypercholesterolemia, familial, 1
c.1471-1G>A Single submitter hypercholesterolemia, autosomal dominant, type B
c.2067+1G>T Single submitter familial hypobetalipoproteinemia 1
c.3696+1G>A Single submitter familial hypobetalipoproteinemia 1
c.3696+1G>T Single submitter
c.904+2T>C Single submitter familial hypobetalipoproteinemia 1
p.Ala111fs Single submitter familial hypobetalipoproteinemia 1
p.Ala1849fs Single submitter familial hypobetalipoproteinemia 1
p.Ala3175fs Single submitter familial hypobetalipoproteinemia 1
p.Arg1491fs Single submitter
p.Arg3391fs Single submitter familial hypobetalipoproteinemia 1
p.Arg3699Ter Single submitter familial hypobetalipoproteinemia 1
p.Arg931fs Single submitter hypercholesterolemia, familial, 1
p.Asn1531fs Single submitter hypercholesterolemia, familial, 1
p.Asn2654fs Single submitter familial hypobetalipoproteinemia 1
p.Asn2865fs Single submitter familial hypobetalipoproteinemia 1
p.Asn3051fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asn3845fs Single submitter familial hypobetalipoproteinemia 1
p.Asn3904fs Single submitter familial hypobetalipoproteinemia 1
p.Asp1357fs Single submitter familial hypobetalipoproteinemia 1
p.Asp3205fs Single submitter familial hypobetalipoproteinemia 1
p.Asp998fs Single submitter familial hypobetalipoproteinemia 1
p.Cys3761Ter Single submitter familial hypobetalipoproteinemia 1
p.Gln1264Ter Single submitter familial hypobetalipoproteinemia 1
p.Gln2180fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln2267Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln2279Ter Single submitter familial hypobetalipoproteinemia 1
p.Gln2382Ter Single submitter familial hypobetalipoproteinemia 1
p.Gln2497Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln3618fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln3757Ter Single submitter familial hypobetalipoproteinemia 1
p.Gln3824Ter Single submitter familial hypobetalipoproteinemia 1
p.Gln3922Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln396fs Single submitter familial hypobetalipoproteinemia 1
p.Gln725fs Single submitter Cardiovascular phenotype
p.Gln725Ter Single submitter Cardiovascular phenotype
p.Glu1004fs Single submitter hypercholesterolemia, familial, 1
p.Glu1116fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Glu1976Ter Single submitter familial hypobetalipoproteinemia 1
p.Glu2008Ter Single submitter familial hypobetalipoproteinemia 1
p.Glu2438Ter Single submitter familial hypobetalipoproteinemia 1
p.Glu2868Ter Single submitter familial hypobetalipoproteinemia 1
p.Glu3241Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Glu3443Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Glu3545Ter Single submitter familial hypobetalipoproteinemia 1
p.Glu420fs Single submitter familial hypobetalipoproteinemia 1
p.Glu420Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Glu4387fs Single submitter hypercholesterolemia, familial, 1
p.Gly1327Ter Single submitter familial hypobetalipoproteinemia 1
p.Gly1861fs Single submitter familial hypobetalipoproteinemia 1
p.Gly781Ter Single submitter familial hypobetalipoproteinemia 1
p.His3182fs Single submitter familial hypobetalipoproteinemia 1
p.His3410fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ile1435fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Leu11fs Single submitter familial hypobetalipoproteinemia 1
p.Leu1345fs Single submitter familial hypobetalipoproteinemia 1
p.Leu14fs Single submitter hypercholesterolemia, familial, 1
p.Leu1664fs Single submitter
p.Leu2468fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Leu687fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys1188Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys2110_Tyr2111insTer Single submitter familial hypobetalipoproteinemia 1
p.Lys2110fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys3097fs Single submitter familial hypobetalipoproteinemia 1
p.Lys3166fs Single submitter familial hypobetalipoproteinemia 1
p.Lys334_Leu335insTer Single submitter familial hypobetalipoproteinemia 1
p.Lys3394Asn Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Lys3799fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys4261_Leu4262insTer Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys4465fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Met750fs Single submitter Early-onset coronary artery disease
p.Phe1611fs Single submitter
p.Phe2656fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Phe2845fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Phe3320fs Single submitter familial hypobetalipoproteinemia 1
p.Phe3687fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Phe3687Ter Single submitter familial hypobetalipoproteinemia 1
p.Pro1299fs Single submitter familial hypobetalipoproteinemia 1
p.Pro224fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Pro2620_Leu2621insTer Single submitter hypercholesterolemia, autosomal dominant, type B
p.Pro3061fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ser1768Ter Single submitter familial hypobetalipoproteinemia 1
p.Ser2211_Leu2212insTer Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ser2306Ter Single submitter
p.Ser3203fs Single submitter familial hypobetalipoproteinemia 1
p.Ser3529Ter Single submitter
p.Ser4267fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr1706fs Single submitter familial hypobetalipoproteinemia 1
p.Thr2225fs Single submitter familial hypobetalipoproteinemia 1
p.Thr2373fs Single submitter familial hypobetalipoproteinemia 1
p.Thr2476fs Single submitter familial hypobetalipoproteinemia 1
p.Thr303fs Single submitter familial hypobetalipoproteinemia 1
p.Thr3526fs Single submitter familial hypobetalipoproteinemia 1
p.Thr3579fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr948fs Single submitter familial hypobetalipoproteinemia 1
p.Thr987fs Single submitter familial hypobetalipoproteinemia 1
p.Tyr1200Ter Single submitter familial hypobetalipoproteinemia 1
p.Tyr1946Ter Single submitter familial hypobetalipoproteinemia 1
p.Tyr1992Ter Single submitter familial hypobetalipoproteinemia 1
p.Tyr2189Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Tyr2535Ter Single submitter familial hypobetalipoproteinemia 1
p.Tyr2568Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Tyr3800Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Tyr666Ter Single submitter familial hypobetalipoproteinemia 1
p.Tyr993Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Val1337fs Single submitter familial hypobetalipoproteinemia 1
p.Val2135fs Single submitter familial hypobetalipoproteinemia 1
p.Val2384fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Val3822fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Val415fs Single submitter hypercholesterolemia, autosomal dominant, type B
c.905-1_905dup No assertion criteria Familial hypobetalipoproteinemia
p.Gln1477Ter No assertion criteria Familial hypobetalipoproteinemia
p.Gln4372Ter No assertion criteria hypercholesterolemia, familial, 1
p.Gln4379Ter No assertion criteria hypercholesterolemia, familial, 1
p.Glu4061fs No assertion criteria Familial hypobetalipoproteinemia
p.Gly1451fs No assertion criteria Familial hypobetalipoproteinemia
p.His1205_Asn1209delinsProTer No assertion criteria Familial hypobetalipoproteinemia
p.His1822fs No assertion criteria Familial hypobetalipoproteinemia
p.Ile4377fs No assertion criteria hypercholesterolemia, familial, 1
p.Ile4407Thr No assertion criteria hypercholesterolemia, familial, 1 ⚠
p.Lys2224fs No assertion criteria hypercholesterolemia, familial, 1
p.Lys766fs No assertion criteria hypercholesterolemia, familial, 1
p.Pro929fs No assertion criteria Familial hypobetalipoproteinemia
p.Tyr1363Ter No assertion criteria Familial hypobetalipoproteinemia
p.Tyr1746Ter No assertion criteria Familial hypobetalipoproteinemia

Pathogenic/Likely pathogenic 24

c.226_237+1del Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.537+1G>T Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg2085Ter Multiple submitters familial hypobetalipoproteinemia 1
p.Arg2522Ter Multiple submitters familial hypobetalipoproteinemia 1
p.Arg3527Gln Multiple submitters homozygous familial hypercholesterolemia ⚠
p.Arg3527Trp Multiple submitters homozygous familial hypercholesterolemia ⚠
p.Arg490Trp Multiple submitters familial hypobetalipoproteinemia 1
p.Asn1772fs Multiple submitters familial hypobetalipoproteinemia 1
p.Glu1171Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Glu1260Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Glu137Ter Multiple submitters familial hypobetalipoproteinemia 1
p.Gly3617fs Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu2693fs Multiple submitters Cardiovascular phenotype
p.Leu2914fs Multiple submitters familial hypobetalipoproteinemia 1
p.Phe2181fs Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Phe2617fs Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Phe3039fs Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Thr248fs Multiple submitters familial hypobetalipoproteinemia 1
p.Thr3413fs Multiple submitters hypobetalipoproteinemia
p.Trp3594Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Tyr1501Ter Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Tyr1851fs Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Tyr3680Ter Multiple submitters Cardiovascular phenotype
p.Val1856fs Multiple submitters familial hypobetalipoproteinemia 1

Likely pathogenic 69

c.2604+1G>A Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.78_82+5del Multiple submitters hypobetalipoproteinemia
p.Gln211Ter Multiple submitters hypobetalipoproteinemia
c.11789-1G>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.11903+1G>C Single submitter familial hypobetalipoproteinemia 1
c.12088-1G>C Single submitter
c.122-2A>G Single submitter familial hypobetalipoproteinemia 1
c.1470+1G>T Single submitter
c.1470+2T>C Single submitter familial hypobetalipoproteinemia 1
c.1618-2A>C Single submitter familial hypobetalipoproteinemia 1
c.237+1G>A Single submitter Cardiovascular phenotype
c.237+2T>C Single submitter familial hypobetalipoproteinemia 1
c.2817-2A>C Single submitter
c.2999+1G>A Single submitter
c.3000-1G>A Single submitter APOB-related disorder
c.3508+1G>A Single submitter familial hypobetalipoproteinemia 1
c.3508+1G>T Single submitter familial hypobetalipoproteinemia 1
c.3842+2T>C Single submitter familial hypobetalipoproteinemia 1
c.4216+2T>C Single submitter familial hypobetalipoproteinemia 1
c.693+2T>A Single submitter familial hypobetalipoproteinemia 1
c.694-4_694-2del Single submitter familial hypobetalipoproteinemia 1
c.819-1G>A Single submitter familial hypobetalipoproteinemia 1
c.819-2A>G Single submitter familial hypobetalipoproteinemia 1
c.82+2T>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.904+1G>A Single submitter familial hypobetalipoproteinemia 1
c.904+2T>A Single submitter familial hypobetalipoproteinemia 1
p.Ala1716_Met1717insTer Single submitter
p.Ala3396Thr Single submitter APOB-related disorder ⚠
p.Ala594fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Arg1491Ter Single submitter
p.Arg3527Leu Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg427Ter Single submitter familial hypobetalipoproteinemia 1
p.Asp3938fs Single submitter hypobetalipoproteinemia
p.Gln2383fs Single submitter hypercholesterolemia, familial, 1
p.Gln384Ter Single submitter
p.Gln4304Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln811Ter Single submitter familial hypercholesterolemia
p.Glu1965Ter Single submitter familial hypobetalipoproteinemia 1
p.Glu2589Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Glu3236Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gly997fs Single submitter hypobetalipoproteinemia
p.His2967fs Single submitter hypobetalipoproteinemia
p.Ile4194fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Leu3286fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Leu3381Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys1043Ter Single submitter familial hypobetalipoproteinemia 1
p.Lys1982fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Lys3394Thr Single submitter familial hypobetalipoproteinemia 1
p.Met1189fs Single submitter
p.Met3746fs Single submitter familial hypobetalipoproteinemia 1
p.Phe1069fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Pro4342fs Single submitter hypobetalipoproteinemia
p.Pro892fs Single submitter
p.Ser3641fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr1180fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr1380fs Single submitter hypobetalipoproteinemia
p.Thr170fs Single submitter hypercholesterolemia, familial, 1
p.Trp1461Ter Single submitter familial hypobetalipoproteinemia 1
p.Trp2553Ter Single submitter familial hypercholesterolemia
p.Trp3542Ter Single submitter
p.Tyr1526Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Tyr2149fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Tyr3098Ter Single submitter hypercholesterolemia, autosomal dominant, type B
p.Tyr4340Ter Single submitter
p.Val1721fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Val3745fs Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ile1839Thr No assertion criteria familial hypercholesterolemia ⚠
p.Ser1524Phe No assertion criteria familial hypobetalipoproteinemia 1 ⚠
p.Val352Phe No assertion criteria familial hypobetalipoproteinemia 1

Conflicting classifications of pathogenicity 814

Showing the top 300 by review status; the full set is in the sitemap.

c.11789-8C>T Single submitter familial hypobetalipoproteinemia 1
c.11904-15T>A Single submitter hypercholesterolemia, autosomal dominant, type B
c.12088-14T>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.1353-12C>T Single submitter hypercholesterolemia, familial, 1
c.1470+15T>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.1617+7T>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.2068-4T>A Single submitter Cardiovascular phenotype
c.2068-5C>G Single submitter familial hypobetalipoproteinemia 1
c.2244+3G>A Single submitter familial hypobetalipoproteinemia 1
c.237+4T>C Single submitter Cardiovascular phenotype
c.238-6T>C Single submitter familial hypercholesterolemia
c.2436+17C>A Single submitter familial hypobetalipoproteinemia 1
c.2999+8A>G Single submitter hypercholesterolemia, autosomal dominant, type B
c.3122-6G>A Single submitter hypercholesterolemia, familial, 1
c.3122-6G>T Single submitter hypercholesterolemia, autosomal dominant, type B
c.3332+12C>T Single submitter familial hypobetalipoproteinemia 1
c.3509-11C>T Single submitter hypercholesterolemia, familial, 1
c.4217-5G>A Single submitter familial hypobetalipoproteinemia 1
c.82+10C>T Single submitter familial hypobetalipoproteinemia 1
c.82+8C>A Single submitter hypercholesterolemia, autosomal dominant, type B
c.83-11C>T Single submitter familial hypercholesterolemia
c.904+11C>G Single submitter familial hypobetalipoproteinemia 1
c.905-15C>G Single submitter hypercholesterolemia, autosomal dominant, type B
c.905-16A>C Single submitter Cardiovascular phenotype
c.-79T>C Single submitter familial hypobetalipoproteinemia 1
c.*11G>T Single submitter familial hypercholesterolemia
c.*179C>T Single submitter familial hypobetalipoproteinemia 1
c.*180G>T Single submitter familial hypobetalipoproteinemia 1
c.*229A>G Single submitter familial hypobetalipoproteinemia 1
c.*31T>C Single submitter hypercholesterolemia, autosomal dominant, type B
p.9_11LAL[1] Single submitter Cardiovascular phenotype
p.Ala1018Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1139Thr Single submitter Cardiovascular phenotype ⚠
p.Ala134Ser Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala1371Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1393Val Single submitter Cardiovascular phenotype ⚠
p.Ala1559Val Single submitter Cardiovascular phenotype ⚠
p.Ala1643Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1643Val Single submitter familial hypercholesterolemia ⚠
p.Ala1656= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ala1680Ser Single submitter Cardiovascular phenotype ⚠
p.Ala1713Ser Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala1830= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ala1873Thr Single submitter APOB-related disorder ⚠
p.Ala200Thr Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala2114= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ala226Thr Single submitter Cardiovascular phenotype
p.Ala2336Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2365Val Single submitter familial hypercholesterolemia ⚠
p.Ala2456Asp Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala2574Val Single submitter Cardiovascular phenotype ⚠
p.Ala2704Val Single submitter Cardiovascular phenotype
p.Ala2717Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2791= Single submitter Cardiovascular phenotype
p.Ala2823= Single submitter Cardiovascular phenotype
p.Ala2858Val Single submitter Cardiovascular phenotype ⚠
p.Ala309Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3277Val Single submitter Cardiovascular phenotype ⚠
p.Ala3354Gly Single submitter Cardiovascular phenotype ⚠
p.Ala3376= Single submitter Cardiovascular phenotype
p.Ala3426Thr Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Ala345Thr Single submitter Cardiovascular phenotype
p.Ala3473Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3514Val Single submitter Cardiovascular phenotype ⚠
p.Ala3517Thr Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala3604Glu Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala3621Thr Single submitter Cardiovascular phenotype ⚠
p.Ala3780Ser Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala3780Val Single submitter Cardiovascular phenotype ⚠
p.Ala3848Thr Single submitter Cardiovascular phenotype ⚠
p.Ala4002Val Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Ala403Val Single submitter Cardiovascular phenotype ⚠
p.Ala4119Ser Single submitter Cardiovascular phenotype ⚠
p.Ala4148= Single submitter familial hypercholesterolemia
p.Ala444Val Single submitter hypercholesterolemia, autosomal dominant, type B
p.Ala4481Thr Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala4483Val Single submitter Cardiovascular phenotype ⚠
p.Ala448Thr Single submitter Cardiovascular phenotype ⚠
p.Ala448Val Single submitter Cardiovascular phenotype ⚠
p.Ala467Gly Single submitter familial hypobetalipoproteinemia 1
p.Ala651Pro Single submitter Cardiovascular phenotype ⚠
p.Ala679Pro Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala73Asp Single submitter familial hypercholesterolemia ⚠
p.Ala803Thr Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala871Thr Single submitter Cardiovascular phenotype ⚠
p.Ala980Thr Single submitter Cardiovascular phenotype ⚠
p.Ala984Thr Single submitter Cardiovascular phenotype ⚠
p.Ala990Thr Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg1027Thr Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg1055= Single submitter Cardiovascular phenotype
p.Arg1055Trp Single submitter Cardiovascular phenotype
p.Arg1091Gly Single submitter Cardiovascular phenotype ⚠
p.Arg1128Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1128His Single submitter Cardiovascular phenotype ⚠
p.Arg1164Gly Single submitter Cardiovascular phenotype ⚠
p.Arg1164Lys Single submitter Cardiovascular phenotype ⚠
p.Arg1164Thr Single submitter Cardiovascular phenotype
p.Arg1224Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1224Trp Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg1284Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1284Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1386Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1388Cys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg1388His Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg1427Cys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg1513Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1599Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1599His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg1599Leu Single submitter Cardiovascular phenotype ⚠
p.Arg1610Ser Single submitter Cardiovascular phenotype ⚠
p.Arg1689Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1689His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg1815Trp Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg1867Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1867Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1897Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1897His Single submitter Cardiovascular phenotype ⚠
p.Arg2012Gln Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg214Cys Single submitter Cardiovascular phenotype ⚠
p.Arg214Leu Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg219Cys Single submitter Cardiovascular phenotype ⚠
p.Arg219Leu Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg2219Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2219His Single submitter Cardiovascular phenotype ⚠
p.Arg233His Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg2444Cys Single submitter hypercholesterolemia, familial, 1 ⚠
p.Arg2449= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Arg2520Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2522Gln Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg2534Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2576Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2576Gly Single submitter Cardiovascular phenotype ⚠
p.Arg2576His Single submitter Cardiovascular phenotype ⚠
p.Arg2712Cys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg2712His Single submitter familial hypercholesterolemia ⚠
p.Arg2907Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2907His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg2969Lys Single submitter Cardiovascular phenotype ⚠
p.Arg297Cys Single submitter Cardiovascular phenotype
p.Arg297His Single submitter hypercholesterolemia, autosomal dominant, type B
p.Arg3059Cys Single submitter homozygous familial hypercholesterolemia ⚠
p.Arg3059His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg3136Cys Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg3136His Single submitter Cardiovascular phenotype ⚠
p.Arg3206Gly Single submitter Cardiovascular phenotype ⚠
p.Arg3291Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3507Pro Single submitter familial hypobetalipoproteinemia 1
p.Arg3507Trp Single submitter hypercholesterolemia, autosomal dominant, type B
p.Arg3558His Single submitter familial hypobetalipoproteinemia 1
p.Arg3698Gly Single submitter Cardiovascular phenotype ⚠
p.Arg3886Cys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg3989Cys Single submitter Cardiovascular phenotype ⚠
p.Arg3989His Single submitter Cardiovascular phenotype ⚠
p.Arg400Cys Single submitter Cardiovascular phenotype ⚠
p.Arg400His Single submitter Cardiovascular phenotype ⚠
p.Arg4046Gln Single submitter familial hypercholesterolemia ⚠
p.Arg4046Trp Single submitter Cardiovascular phenotype ⚠
p.Arg4106= Single submitter familial hypercholesterolemia
p.Arg4129Ser Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg4177Gln Single submitter Cardiovascular phenotype ⚠
p.Arg4177Ter Single submitter Cardiovascular phenotype ⚠
p.Arg427Gln Single submitter Cardiovascular phenotype ⚠
p.Arg4297Cys Single submitter Cardiovascular phenotype ⚠
p.Arg4297His Single submitter Cardiovascular phenotype ⚠
p.Arg434Ser Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg437Cys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg437His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg4385His Single submitter Cardiovascular phenotype ⚠
p.Arg439Gln Single submitter Cardiovascular phenotype ⚠
p.Arg45Gly Single submitter familial hypercholesterolemia ⚠
p.Arg50Gln Single submitter Cardiovascular phenotype ⚠
p.Arg50Trp Single submitter Cardiovascular phenotype
p.Arg532Gln Single submitter Cardiovascular phenotype
p.Arg532Trp Single submitter familial hypobetalipoproteinemia 1
p.Arg558Ter Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg635Gln Single submitter Cardiovascular phenotype ⚠
p.Arg635Trp Single submitter Cardiovascular phenotype ⚠
p.Arg778Cys Single submitter Cardiovascular phenotype ⚠
p.Arg778His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Arg804His Single submitter Cardiovascular phenotype ⚠
p.Asn1080Ser Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn118Lys Single submitter Cardiovascular phenotype ⚠
p.Asn1276Lys Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn1585Asp Single submitter Cardiovascular phenotype ⚠
p.Asn1585Ile Single submitter Cardiovascular phenotype ⚠
p.Asn1694Ser Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn1728Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1810Ser Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn1884Asp Single submitter Cardiovascular phenotype ⚠
p.Asn1912Tyr Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asn2130Ser Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn2323Lys Single submitter Cardiovascular phenotype ⚠
p.Asn2417His Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn2879Tyr Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn2961Ile Single submitter Cardiovascular phenotype ⚠
p.Asn2961Ser Single submitter Cardiovascular phenotype ⚠
p.Asn2971Thr Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn3026Ile Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn3035= Single submitter familial hypobetalipoproteinemia 1
p.Asn3099Ser Single submitter Cardiovascular phenotype ⚠
p.Asn3106Ser Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asn3107Lys Single submitter Cardiovascular phenotype ⚠
p.Asn3211Lys Single submitter Cardiovascular phenotype ⚠
p.Asn3214Ser Single submitter Cardiovascular phenotype ⚠
p.Asn3257Ser Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn3580Lys Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn3580Ser Single submitter Cardiovascular phenotype ⚠
p.Asn3628Tyr Single submitter Cardiovascular phenotype ⚠
p.Asn3845Asp Single submitter Cardiovascular phenotype ⚠
p.Asn3929= Single submitter familial hypobetalipoproteinemia 1
p.Asn3977His Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn575Lys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn665Tyr Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn886Ser Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asn902= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asp1026Gly Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp1095Asn Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp1199Asn Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asp1309His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp1381Glu Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp1394Gly Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp1456Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1722Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1854Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1908Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1997Glu Single submitter Cardiovascular phenotype ⚠
p.Asp1997Gly Single submitter Cardiovascular phenotype ⚠
p.Asp2038Gly Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp213Val Single submitter familial hypobetalipoproteinemia 1
p.Asp2213del Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asp2299His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp2388His Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp2552Gly Single submitter Cardiovascular phenotype ⚠
p.Asp2664Gly Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asp2695Tyr Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp2710Gly Single submitter Cardiovascular phenotype ⚠
p.Asp2884Glu Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp2938Gly Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asp3149Asn Single submitter Cardiovascular phenotype ⚠
p.Asp3231Gly Single submitter Cardiovascular phenotype ⚠
p.Asp3240Asn Single submitter Cardiovascular phenotype ⚠
p.Asp3289Glu Single submitter Cardiovascular phenotype ⚠
p.Asp3739Tyr Single submitter Cardiovascular phenotype ⚠
p.Asp3805Asn Single submitter Cardiovascular phenotype ⚠
p.Asp3839Val Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp3907Gly Single submitter Cardiovascular phenotype ⚠
p.Asp3985Asn Single submitter Cardiovascular phenotype ⚠
p.Asp4017= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Asp4018Gly Single submitter APOB-related disorder ⚠
p.Asp4018Val Single submitter Cardiovascular phenotype ⚠
p.Asp4083Asn Single submitter Cardiovascular phenotype ⚠
p.Asp4124Gly Single submitter Cardiovascular phenotype ⚠
p.Asp4146Asn Single submitter Cardiovascular phenotype ⚠
p.Asp4264Asn Single submitter Cardiovascular phenotype ⚠
p.Asp4275Ala Single submitter Cardiovascular phenotype ⚠
p.Asp4301= Single submitter familial hypercholesterolemia
p.Asp4457Asn Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp4522= Single submitter Cardiovascular phenotype
p.Asp550His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Asp728= Single submitter Cardiovascular phenotype
p.Cys1422Tyr Single submitter hypercholesterolemia, familial, 1
p.Gln1023His Single submitter Cardiovascular phenotype ⚠
p.Gln1336Arg Single submitter Cardiovascular phenotype ⚠
p.Gln1347His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Gln1860His Single submitter Cardiovascular phenotype ⚠
p.Gln2134Arg Single submitter Cardiovascular phenotype ⚠
p.Gln2353Lys Single submitter Cardiovascular phenotype ⚠
p.Gln2485Arg Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln2529Lys Single submitter Cardiovascular phenotype ⚠
p.Gln2608Pro Single submitter Cardiovascular phenotype ⚠
p.Gln2732Leu Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln2742His Single submitter Cardiovascular phenotype ⚠
p.Gln2765Arg Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln3167Pro Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln3378His Single submitter Cardiovascular phenotype
p.Gln3432Arg Single submitter familial hypobetalipoproteinemia 1
p.Gln3860Arg Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Gln3922Glu Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln4122Lys Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Gln424His Single submitter Cardiovascular phenotype ⚠
p.Gln4368Glu Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Gln4474His Single submitter Cardiovascular phenotype ⚠
p.Gln4494del Single submitter Cardiovascular phenotype
p.Gln585Lys Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln609= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gln708Arg Single submitter Cardiovascular phenotype ⚠
p.Gln708Glu Single submitter Cardiovascular phenotype ⚠
p.Gln96His Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Glu1012Lys Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Glu1082Asp Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Glu1175Ala Single submitter Cardiovascular phenotype ⚠
p.Glu1483= Single submitter familial hypercholesterolemia
p.Glu1517Ala Single submitter Cardiovascular phenotype ⚠
p.Glu1607Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2047Gly Single submitter Cardiovascular phenotype ⚠
p.Glu2075Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2079Gly Single submitter Cardiovascular phenotype ⚠
p.Glu2290Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2343Val Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Glu2414Asp Single submitter Cardiovascular phenotype ⚠

Benign 60

c.12088-13del Multiple submitters familial hypobetalipoproteinemia 1
c.237+92G>T Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.3843-77T>C Multiple submitters familial hypobetalipoproteinemia 1
p.Ala43= Multiple submitters familial hypobetalipoproteinemia 1
p.Arg1386Gln Multiple submitters Cardiovascular phenotype
p.Arg4270Thr Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp2312= Multiple submitters Cardiovascular phenotype
p.Cys1422= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile2313Val Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu22del Multiple submitters Cardiovascular phenotype
p.Ser4338Asn Multiple submitters Cardiovascular phenotype
p.Thr2515= Multiple submitters Cardiovascular phenotype
c.1124+20C>G Single submitter hypercholesterolemia, autosomal dominant, type B
c.11789-13C>A Single submitter hypercholesterolemia, autosomal dominant, type B
c.12088-15_12088-13del Single submitter familial hypobetalipoproteinemia 1
c.12088-23dup Single submitter hypercholesterolemia, autosomal dominant, type B
c.121+16A>G Single submitter familial hypobetalipoproteinemia 1
c.121+22C>A Single submitter familial hypercholesterolemia
c.1471-18T>C Single submitter familial hypobetalipoproteinemia 1
c.2067+20G>A Single submitter hypercholesterolemia, autosomal dominant, type B
c.2436+76G>A Single submitter
c.2999+17G>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.3842+23C>T Single submitter familial hypercholesterolemia
c.4217-15del Single submitter familial hypobetalipoproteinemia 1
c.693+360T>C Single submitter hypercholesterolemia, autosomal dominant, type B
c.905-23C>T Single submitter familial hypercholesterolemia
c.-277C>T Single submitter familial hypercholesterolemia
c.-393T>C Single submitter familial hypercholesterolemia
c.-430C>A Single submitter familial hypercholesterolemia
c.-644C>T Single submitter familial hypercholesterolemia
c.-965A>G Single submitter familial hypercholesterolemia
p.Ala3707Val Single submitter hypercholesterolemia, autosomal dominant, type B
p.Arg437Leu Single submitter familial hypobetalipoproteinemia 1
p.Asn2865Ser Single submitter familial hypobetalipoproteinemia 1
p.Asn3213Lys Single submitter familial hypobetalipoproteinemia 1
p.Asp2664Glu Single submitter familial hypobetalipoproteinemia 1 ⚠
p.Gln1097Arg Single submitter familial hypobetalipoproteinemia 1
p.Gln1733His Single submitter familial hypobetalipoproteinemia 1
p.Gly1227Val Single submitter familial hypobetalipoproteinemia 1
p.Gly1679Ala Single submitter hypercholesterolemia, autosomal dominant, type B
p.Gly230Ala Single submitter familial hypobetalipoproteinemia 1
p.Gly2540Asp Single submitter familial hypobetalipoproteinemia 1
p.Gly3996Val Single submitter familial hypobetalipoproteinemia 1
p.His2288Tyr Single submitter familial hypobetalipoproteinemia 1
p.Ile4448Asn Single submitter familial hypobetalipoproteinemia 1
p.Leu14Pro Single submitter Cardiovascular phenotype
p.Leu1705= Single submitter familial hypobetalipoproteinemia 1
p.Leu9fs Single submitter
p.Lys1429= Single submitter familial hypobetalipoproteinemia 1
p.Lys3762Thr Single submitter familial hypobetalipoproteinemia 1
p.Phe1335Leu Single submitter hypercholesterolemia, autosomal dominant, type B ⚠
p.Phe1383= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Pro292Arg Single submitter familial hypobetalipoproteinemia 1
p.Pro3133= Single submitter familial hypobetalipoproteinemia 1
p.Ser1244Asn Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr1008= Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr1941Ile Single submitter hypercholesterolemia, autosomal dominant, type B
p.Thr2152Ile Single submitter familial hypobetalipoproteinemia 1
p.Thr2592= Single submitter familial hypobetalipoproteinemia 1
p.Tyr1840Cys Single submitter familial hypobetalipoproteinemia 1

Benign/Likely benign 92

c.1124+18C>T Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.11788+16C>T Multiple submitters familial hypobetalipoproteinemia 1
c.11904-7C>T Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.2604+15G>C Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.2817-19T>G Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.3509-10G>A Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.3697-9A>G Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.538-9C>T Multiple submitters familial hypercholesterolemia
c.818+7C>T Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.9LAL[1] Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ala251Thr Multiple submitters Cardiovascular phenotype
p.Ala3113= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala3727= Multiple submitters familial hypercholesterolemia
p.Ala3942= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala4005= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala4483= Multiple submitters Cardiovascular phenotype
p.Ala598= Multiple submitters familial hypercholesterolemia
p.Ala618Val Multiple submitters Cardiovascular phenotype
p.Ala683Ser Multiple submitters Cardiovascular phenotype
p.Arg214His Multiple submitters Cardiovascular phenotype
p.Arg2513Gln Multiple submitters Cardiovascular phenotype
p.Arg3507Gln Multiple submitters familial hypobetalipoproteinemia 1
p.Arg3638Gln Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg4496= Multiple submitters Cardiovascular phenotype
p.Asn1914Ser Multiple submitters Cardiovascular phenotype
p.Asn2785His Multiple submitters Cardiovascular phenotype
p.Asn3107= Multiple submitters Cardiovascular phenotype
p.Asn3580= Multiple submitters Cardiovascular phenotype
p.Asn3623= Multiple submitters Cardiovascular phenotype
p.Asn4365= Multiple submitters familial hypobetalipoproteinemia 1
p.Asn664Lys Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp1113His Multiple submitters Cardiovascular phenotype
p.Asp2021= Multiple submitters familial hypobetalipoproteinemia 1
p.Asp2162Asn Multiple submitters Cardiovascular phenotype
p.Asp250= Multiple submitters Cardiovascular phenotype
p.Asp465= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gln2765= Multiple submitters Cardiovascular phenotype
p.Gln3432Glu Multiple submitters Cardiovascular phenotype
p.Gln968Pro Multiple submitters Cardiovascular phenotype
p.Glu202Asp Multiple submitters familial hypercholesterolemia
p.Glu3493= Multiple submitters Cardiovascular phenotype
p.Glu4181Lys Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly1086= Multiple submitters Cardiovascular phenotype
p.Gly1576= Multiple submitters Cardiovascular phenotype
p.Gly2006= Multiple submitters familial hypobetalipoproteinemia 1
p.Gly2326= Multiple submitters Cardiovascular phenotype
p.Gly979= Multiple submitters Cardiovascular phenotype
p.His1923Arg Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.His2230Tyr Multiple submitters familial hypobetalipoproteinemia 1
p.Ile1298= Multiple submitters Cardiovascular phenotype
p.Ile3285= Multiple submitters hypercholesterolemia, familial, 1
p.Ile3856= Multiple submitters Cardiovascular phenotype
p.Ile3936= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile854Thr Multiple submitters Cardiovascular phenotype
p.Leu1619= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu2009= Multiple submitters Cardiovascular phenotype
p.Leu21_Leu22dup Multiple submitters familial hypobetalipoproteinemia 1
p.Leu2959= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu3002= Multiple submitters Cardiovascular phenotype
p.Leu3078= Multiple submitters Cardiovascular phenotype
p.Leu4189= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu4262= Multiple submitters Cardiovascular phenotype
p.Leu4317= Multiple submitters Cardiovascular phenotype
p.Lys262= Multiple submitters Cardiovascular phenotype
p.Met2577Leu Multiple submitters Cardiovascular phenotype
p.Phe1455= Multiple submitters Cardiovascular phenotype
p.Phe3578= Multiple submitters familial hypercholesterolemia
p.Pro2739Leu Multiple submitters Cardiovascular phenotype
p.Pro3809= Multiple submitters Cardiovascular phenotype
p.Pro4342= Multiple submitters Cardiovascular phenotype
p.Pro994= Multiple submitters Cardiovascular phenotype
p.Ser1281= Multiple submitters Cardiovascular phenotype
p.Ser1425Phe Multiple submitters Cardiovascular phenotype
p.Ser3409Asn Multiple submitters familial hypobetalipoproteinemia 1
p.Ser4233= Multiple submitters Cardiovascular phenotype
p.Ser4517Phe Multiple submitters Cardiovascular phenotype
p.Ser595= Multiple submitters familial hypobetalipoproteinemia 1
p.Thr1050= Multiple submitters familial hypobetalipoproteinemia 1
p.Thr1093= Multiple submitters familial hypercholesterolemia
p.Thr191= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Thr194= Multiple submitters Cardiovascular phenotype
p.Thr194Met Multiple submitters familial hypercholesterolemia
p.Thr3065= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Thr3164= Multiple submitters Cardiovascular phenotype
p.Thr3579= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Thr3940Met Multiple submitters Cardiovascular phenotype
p.Thr98Ile Multiple submitters Cardiovascular phenotype
p.Tyr1578= Multiple submitters Cardiovascular phenotype
p.Tyr2889= Multiple submitters Cardiovascular phenotype
p.Tyr3462Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr56= Multiple submitters Cardiovascular phenotype
p.Val770= Multiple submitters Cardiovascular phenotype

Likely benign 1697

Showing the top 300 by review status; the full set is in the sitemap.

c.12087+9C>T Multiple submitters familial hypobetalipoproteinemia 1
c.12088-17T>C Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.1617+19G>A Multiple submitters familial hypobetalipoproteinemia 1
c.2436+102A>G Multiple submitters
c.2437-17C>T Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.2999+10G>T Multiple submitters familial hypobetalipoproteinemia 1
c.3508+14C>T Multiple submitters familial hypobetalipoproteinemia 1
c.384-8_384-5del Multiple submitters familial hypobetalipoproteinemia 1
c.694-20G>A Multiple submitters familial hypobetalipoproteinemia 1
c.818+14T>C Multiple submitters hypercholesterolemia, autosomal dominant, type B
c.82+12G>C Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ala10= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala1042= Multiple submitters Cardiovascular phenotype
p.Ala1042Val Multiple submitters familial hypobetalipoproteinemia 1
p.Ala1105Thr Multiple submitters Cardiovascular phenotype
p.Ala1208= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala1457= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala1596= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala1604= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ala1643= Multiple submitters Cardiovascular phenotype
p.Ala1695= Multiple submitters Cardiovascular phenotype
p.Ala1703= Multiple submitters Cardiovascular phenotype
p.Ala1704Thr Multiple submitters Cardiovascular phenotype
p.Ala1824= Multiple submitters Cardiovascular phenotype
p.Ala1918Thr Multiple submitters Cardiovascular phenotype
p.Ala1970= Multiple submitters Cardiovascular phenotype
p.Ala2045= Multiple submitters Cardiovascular phenotype
p.Ala2365= Multiple submitters Cardiovascular phenotype
p.Ala2478= Multiple submitters Cardiovascular phenotype
p.Ala2704= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ala2790Thr Multiple submitters familial hypobetalipoproteinemia 1
p.Ala2795= Multiple submitters Cardiovascular phenotype
p.Ala322= Multiple submitters familial hypercholesterolemia
p.Ala3333= Multiple submitters Cardiovascular phenotype
p.Ala3982= Multiple submitters Cardiovascular phenotype
p.Ala4062= Multiple submitters Cardiovascular phenotype
p.Ala433= Multiple submitters Cardiovascular phenotype
p.Ala433Val Multiple submitters Cardiovascular phenotype
p.Ala444= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala7= Multiple submitters familial hypobetalipoproteinemia 1
p.Ala867= Multiple submitters Cardiovascular phenotype
p.Arg1427= Multiple submitters Cardiovascular phenotype
p.Arg1427His Multiple submitters familial hypobetalipoproteinemia 1
p.Arg1513Gln Multiple submitters Cardiovascular phenotype
p.Arg2085= Multiple submitters Cardiovascular phenotype
p.Arg2085Gln Multiple submitters Cardiovascular phenotype
p.Arg219His Multiple submitters Cardiovascular phenotype
p.Arg2219= Multiple submitters Cardiovascular phenotype
p.Arg2309= Multiple submitters familial hypobetalipoproteinemia 1
p.Arg2444His Multiple submitters Cardiovascular phenotype
p.Arg26= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg2644Met Multiple submitters Cardiovascular phenotype
p.Arg3092= Multiple submitters Cardiovascular phenotype
p.Arg3291His Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg3311= Multiple submitters Cardiovascular phenotype
p.Arg3527= Multiple submitters familial hypobetalipoproteinemia 1
p.Arg3638= Multiple submitters Cardiovascular phenotype
p.Arg3670Ser Multiple submitters Cardiovascular phenotype
p.Arg3703His Multiple submitters Cardiovascular phenotype
p.Arg3886= Multiple submitters familial hypobetalipoproteinemia 1
p.Arg490= Multiple submitters Cardiovascular phenotype
p.Arg75= Multiple submitters Cardiovascular phenotype
p.Arg804= Multiple submitters Cardiovascular phenotype
p.Asn1054= Multiple submitters Cardiovascular phenotype
p.Asn1098= Multiple submitters Cardiovascular phenotype
p.Asn1256= Multiple submitters familial hypobetalipoproteinemia 1
p.Asn1557= Multiple submitters Cardiovascular phenotype
p.Asn1580= Multiple submitters Cardiovascular phenotype
p.Asn1627= Multiple submitters familial hypercholesterolemia
p.Asn1637= Multiple submitters familial hypercholesterolemia
p.Asn1758= Multiple submitters familial hypercholesterolemia
p.Asn1772= Multiple submitters familial hypobetalipoproteinemia 1
p.Asn1884= Multiple submitters Cardiovascular phenotype
p.Asn1886= Multiple submitters Cardiovascular phenotype
p.Asn1914= Multiple submitters familial hypobetalipoproteinemia 1
p.Asn198= Multiple submitters Cardiovascular phenotype
p.Asn1989= Multiple submitters Cardiovascular phenotype
p.Asn2000= Multiple submitters Cardiovascular phenotype
p.Asn2094= Multiple submitters Cardiovascular phenotype
p.Asn2130= Multiple submitters Cardiovascular phenotype
p.Asn2168= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asn2638= Multiple submitters Cardiovascular phenotype
p.Asn2729= Multiple submitters Cardiovascular phenotype
p.Asn2785= Multiple submitters Cardiovascular phenotype
p.Asn2848= Multiple submitters Cardiovascular phenotype
p.Asn2886= Multiple submitters Cardiovascular phenotype
p.Asn2894= Multiple submitters Cardiovascular phenotype
p.Asn2908= Multiple submitters Cardiovascular phenotype
p.Asn2964= Multiple submitters Cardiovascular phenotype
p.Asn3257= Multiple submitters Cardiovascular phenotype
p.Asn34= Multiple submitters Cardiovascular phenotype
p.Asn3439= Multiple submitters Cardiovascular phenotype
p.Asn3895= Multiple submitters Cardiovascular phenotype
p.Asn4073= Multiple submitters familial hypercholesterolemia
p.Asn4111= Multiple submitters Cardiovascular phenotype
p.Asn4170= Multiple submitters Cardiovascular phenotype
p.Asn468Asp Multiple submitters Cardiovascular phenotype
p.Asn716= Multiple submitters Cardiovascular phenotype
p.Asn77= Multiple submitters Cardiovascular phenotype
p.Asn983= Multiple submitters Cardiovascular phenotype
p.Asp1031= Multiple submitters Cardiovascular phenotype
p.Asp1070= Multiple submitters familial hypobetalipoproteinemia 1
p.Asp1185= Multiple submitters Cardiovascular phenotype
p.Asp1282= Multiple submitters Cardiovascular phenotype
p.Asp1423= Multiple submitters Cardiovascular phenotype
p.Asp1432= Multiple submitters familial hypercholesterolemia
p.Asp148= Multiple submitters familial hypobetalipoproteinemia 1
p.Asp1722= Multiple submitters Cardiovascular phenotype
p.Asp1765= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp1997Asn Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp2213= Multiple submitters Cardiovascular phenotype
p.Asp2228= Multiple submitters Cardiovascular phenotype
p.Asp2293= Multiple submitters familial hypobetalipoproteinemia 1
p.Asp2518= Multiple submitters Cardiovascular phenotype
p.Asp2572= Multiple submitters Cardiovascular phenotype
p.Asp3240= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp3289= Multiple submitters Cardiovascular phenotype
p.Asp3728= Multiple submitters Cardiovascular phenotype
p.Asp4083= Multiple submitters Cardiovascular phenotype
p.Asp4125= Multiple submitters Cardiovascular phenotype
p.Asp4127= Multiple submitters familial hypercholesterolemia
p.Asp4248= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp4331= Multiple submitters Cardiovascular phenotype
p.Asp435= Multiple submitters familial hypercholesterolemia
p.Asp4459= Multiple submitters familial hypercholesterolemia
p.Asp538= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Asp764= Multiple submitters Cardiovascular phenotype
p.Asp791= Multiple submitters Cardiovascular phenotype
p.Asp998= Multiple submitters Cardiovascular phenotype
p.Cys976= Multiple submitters Cardiovascular phenotype
p.Gln1056= Multiple submitters Cardiovascular phenotype
p.Gln1149= Multiple submitters Cardiovascular phenotype
p.Gln140= Multiple submitters familial hypercholesterolemia
p.Gln1464= Multiple submitters familial hypercholesterolemia
p.Gln2274= Multiple submitters familial hypercholesterolemia
p.Gln2300= Multiple submitters Cardiovascular phenotype
p.Gln2525= Multiple submitters Cardiovascular phenotype
p.Gln2529= Multiple submitters familial hypobetalipoproteinemia 1
p.Gln2613= Multiple submitters Cardiovascular phenotype
p.Gln2742= Multiple submitters familial hypercholesterolemia
p.Gln3084= Multiple submitters Cardiovascular phenotype
p.Gln3167= Multiple submitters Cardiovascular phenotype
p.Gln3442= Multiple submitters Cardiovascular phenotype
p.Gln3700= Multiple submitters familial hypercholesterolemia
p.Gln4161= Multiple submitters familial hypercholesterolemia
p.Gln4372= Multiple submitters Cardiovascular phenotype
p.Gln4435= Multiple submitters familial hypobetalipoproteinemia 1
p.Gln4480= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gln4500= Multiple submitters Cardiovascular phenotype
p.Gln529= Multiple submitters Cardiovascular phenotype
p.Gln793= Multiple submitters Cardiovascular phenotype
p.Gln807= Multiple submitters Cardiovascular phenotype
p.Glu1002= Multiple submitters Cardiovascular phenotype
p.Glu1010= Multiple submitters Cardiovascular phenotype
p.Glu1103= Multiple submitters familial hypercholesterolemia
p.Glu1674= Multiple submitters Cardiovascular phenotype
p.Glu2032= Multiple submitters Cardiovascular phenotype
p.Glu2051Gln Multiple submitters Cardiovascular phenotype
p.Glu2214= Multiple submitters familial hypercholesterolemia
p.Glu2290= Multiple submitters familial hypobetalipoproteinemia 1
p.Glu2315= Multiple submitters Cardiovascular phenotype
p.Glu2343= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Glu2346Lys Multiple submitters Cardiovascular phenotype
p.Glu2458Gln Multiple submitters Cardiovascular phenotype
p.Glu2786Lys Multiple submitters Cardiovascular phenotype
p.Glu2868= Multiple submitters Cardiovascular phenotype
p.Glu2909Lys Multiple submitters familial hypobetalipoproteinemia 1
p.Glu3016= Multiple submitters Cardiovascular phenotype
p.Glu3160Lys Multiple submitters familial hypobetalipoproteinemia 1
p.Glu3195= Multiple submitters Cardiovascular phenotype
p.Glu3564= Multiple submitters familial hypobetalipoproteinemia 1
p.Glu3925= Multiple submitters Cardiovascular phenotype
p.Glu3971Lys Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Glu4113= Multiple submitters familial hypobetalipoproteinemia 1
p.Glu4256= Multiple submitters Cardiovascular phenotype
p.Glu4294= Multiple submitters Cardiovascular phenotype
p.Glu4319= Multiple submitters familial hypercholesterolemia
p.Glu4366Lys Multiple submitters Cardiovascular phenotype
p.Glu4387= Multiple submitters Cardiovascular phenotype
p.Glu535= Multiple submitters Cardiovascular phenotype
p.Glu621= Multiple submitters Cardiovascular phenotype
p.Glu815= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Glu872= Multiple submitters Cardiovascular phenotype
p.Gly1086Ser Multiple submitters familial hypobetalipoproteinemia 1
p.Gly1688= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly1874= Multiple submitters Cardiovascular phenotype
p.Gly1915= Multiple submitters Cardiovascular phenotype
p.Gly2116= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly230= Multiple submitters Cardiovascular phenotype
p.Gly2302= Multiple submitters Cardiovascular phenotype
p.Gly2584= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly2998= Multiple submitters Cardiovascular phenotype
p.Gly3119Glu Multiple submitters Cardiovascular phenotype
p.Gly3157= Multiple submitters Cardiovascular phenotype
p.Gly3392= Multiple submitters Cardiovascular phenotype
p.Gly3408= Multiple submitters Cardiovascular phenotype
p.Gly357= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly3575= Multiple submitters Cardiovascular phenotype
p.Gly3697= Multiple submitters Cardiovascular phenotype
p.Gly3939= Multiple submitters Cardiovascular phenotype
p.Gly4007= Multiple submitters Cardiovascular phenotype
p.Gly4118= Multiple submitters Cardiovascular phenotype
p.Gly4209= Multiple submitters Cardiovascular phenotype
p.Gly706= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly739= Multiple submitters Cardiovascular phenotype
p.Gly843= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Gly852= Multiple submitters Cardiovascular phenotype
p.His1140= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.His1225= Multiple submitters Cardiovascular phenotype
p.His1952= Multiple submitters Cardiovascular phenotype
p.His2067= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.His2137= Multiple submitters Cardiovascular phenotype
p.His2215= Multiple submitters familial hypercholesterolemia
p.His2230= Multiple submitters Cardiovascular phenotype
p.His2272= Multiple submitters Cardiovascular phenotype
p.His3024= Multiple submitters Cardiovascular phenotype
p.His3114= Multiple submitters familial hypercholesterolemia
p.His3182= Multiple submitters Cardiovascular phenotype
p.His3239= Multiple submitters Cardiovascular phenotype
p.His3308= Multiple submitters familial hypobetalipoproteinemia 1
p.His3603Arg Multiple submitters Cardiovascular phenotype
p.His3658= Multiple submitters Cardiovascular phenotype
p.His4183= Multiple submitters Cardiovascular phenotype
p.His447= Multiple submitters Cardiovascular phenotype
p.His907= Multiple submitters Cardiovascular phenotype
p.Ile1076= Multiple submitters Cardiovascular phenotype
p.Ile1137= Multiple submitters Cardiovascular phenotype
p.Ile1630= Multiple submitters Cardiovascular phenotype
p.Ile1872= Multiple submitters Cardiovascular phenotype
p.Ile1907= Multiple submitters Cardiovascular phenotype
p.Ile2037Thr Multiple submitters Cardiovascular phenotype
p.Ile2292Leu Multiple submitters Cardiovascular phenotype
p.Ile2292Thr Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile2313Met Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile2789= Multiple submitters familial hypobetalipoproteinemia 1
p.Ile3298= Multiple submitters familial hypercholesterolemia
p.Ile3513= Multiple submitters familial hypercholesterolemia
p.Ile394= Multiple submitters familial hypobetalipoproteinemia 1
p.Ile3978= Multiple submitters hypercholesterolemia, familial, 1
p.Ile4126= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile4190= Multiple submitters Cardiovascular phenotype
p.Ile4341= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile4393Val Multiple submitters Cardiovascular phenotype
p.Ile4426= Multiple submitters Cardiovascular phenotype
p.Ile4482Thr Multiple submitters Cardiovascular phenotype
p.Ile4561= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1073= Multiple submitters familial hypercholesterolemia
p.Leu1138= Multiple submitters Cardiovascular phenotype
p.Leu1197= Multiple submitters Cardiovascular phenotype
p.Leu12= Multiple submitters Cardiovascular phenotype
p.Leu1258= Multiple submitters familial hypercholesterolemia
p.Leu133= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu1400= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1420= Multiple submitters Cardiovascular phenotype
p.Leu1542= Multiple submitters Cardiovascular phenotype
p.Leu1561= Multiple submitters Cardiovascular phenotype
p.Leu1614= Multiple submitters Cardiovascular phenotype
p.Leu164= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1664= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1667= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu1677= Multiple submitters Cardiovascular phenotype
p.Leu1699= Multiple submitters Cardiovascular phenotype
p.Leu17= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1736= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1788= Multiple submitters Cardiovascular phenotype
p.Leu1814= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu1827= Multiple submitters Cardiovascular phenotype
p.Leu1917= Multiple submitters Cardiovascular phenotype
p.Leu1927= Multiple submitters Cardiovascular phenotype
p.Leu1954= Multiple submitters Cardiovascular phenotype
p.Leu1971= Multiple submitters familial hypercholesterolemia
p.Leu2077= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu22= Multiple submitters Cardiovascular phenotype
p.Leu2324= Multiple submitters Cardiovascular phenotype
p.Leu235= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu2466= Multiple submitters familial hypercholesterolemia
p.Leu2468= Multiple submitters Cardiovascular phenotype
p.Leu2532= Multiple submitters Cardiovascular phenotype
p.Leu2536= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu2561= Multiple submitters Cardiovascular phenotype
p.Leu268= Multiple submitters Cardiovascular phenotype
p.Leu2684= Multiple submitters Cardiovascular phenotype
p.Leu2693= Multiple submitters Cardiovascular phenotype
p.Leu2844= Multiple submitters Cardiovascular phenotype
p.Leu3076Met Multiple submitters Cardiovascular phenotype
p.Leu3126= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu332= Multiple submitters Cardiovascular phenotype
p.Leu3393= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu3416= Multiple submitters Cardiovascular phenotype
p.Leu3436= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu3469= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu351= Multiple submitters Cardiovascular phenotype
p.Leu3521= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu358= Multiple submitters Cardiovascular phenotype
p.Leu3684= Multiple submitters Cardiovascular phenotype
p.Leu37= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu370= Multiple submitters familial hypobetalipoproteinemia 1
p.Leu3781= Multiple submitters familial hypercholesterolemia
p.Leu3797= Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu3941= Multiple submitters Cardiovascular phenotype

Uncertain significance 1996

Showing the top 300 by review status; the full set is in the sitemap.

c.1124+3A>G Multiple submitters Cardiovascular phenotype
c.11788+4A>G Multiple submitters Cardiovascular phenotype
c.12087+2T>C Multiple submitters Cardiovascular phenotype
c.1352+60C>A Multiple submitters hypercholesterolemia, familial, 1
c.1830-15CTT[2] Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.9LAL[3] Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ala1144Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala1320Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala134Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala1695Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1901Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala1975Ser Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala2510Val Multiple submitters ⚠
p.Ala3008Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala3015Thr Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ala3048Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala309Ser Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala3175Ser Multiple submitters ⚠
p.Ala3431Asp Multiple submitters Cardiovascular phenotype
p.Ala3587Thr Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala381Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala3837Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala3848Val Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala4112Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala4148Asp Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ala4148Glu Multiple submitters Cardiovascular phenotype
p.Ala467Thr Multiple submitters Cardiovascular phenotype
p.Ala467Val Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ala526Val Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala527Val Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala552Asp Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ala68Thr Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ala835Gly Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg1134Gly Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Arg128Gly Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Arg1333Gly Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Arg233Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg2449Lys Multiple submitters Cardiovascular phenotype ⚠
p.Arg3311Ile Multiple submitters familial hypercholesterolemia ⚠
p.Arg3437Lys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Arg3558Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg3952His Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Arg4098Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg4385Cys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Arg4446Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg490Gln Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Arg558Gln Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Arg818Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1183Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1515Ser Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asn1531His Multiple submitters
p.Asn1575Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1575Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asn1669Ser Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn1672Lys Multiple submitters Cardiovascular phenotype
p.Asn1988Asp Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asn2084Lys Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn2103Ser Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asn2123Ser Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asn2251Ser Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asn2727Lys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asn3358His Multiple submitters familial hypobetalipoproteinemia 1
p.Asn3358Ser Multiple submitters Cardiovascular phenotype
p.Asn3403Tyr Multiple submitters familial hypobetalipoproteinemia 1
p.Asn3447Lys Multiple submitters familial hypobetalipoproteinemia 1
p.Asn4086Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn4327Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asn4431Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn602Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asp1070Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp1072Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp1072His Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asp1282Asn Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp1394Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp148Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp1752Asn Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp1771Glu Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asp180Tyr Multiple submitters Cardiovascular phenotype
p.Asp2105Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp2124Asn Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp2124Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp2203Gly Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp2237Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp2710Val Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Asp3124Gly Multiple submitters Cardiovascular phenotype
p.Asp3240Glu Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asp3499Gly Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asp3691Asn Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Asp3728Glu Multiple submitters Cardiovascular phenotype
p.Asp3833Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp3993Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp4127Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp4390His Multiple submitters Cardiovascular phenotype ⚠
p.Asp4522Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp610Gly Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Asp744Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp749Tyr Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Cys4353Ter Multiple submitters Cardiovascular phenotype
p.Cys88Tyr Multiple submitters familial hypobetalipoproteinemia 1
p.Gln1239His Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln2183Arg Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Gln3378Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gln3442Lys Multiple submitters familial hypobetalipoproteinemia 1
p.Gln3645Pro Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Gln384His Multiple submitters familial hypobetalipoproteinemia 1
p.Gln4180Lys Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Gln4247Ter Multiple submitters Cardiovascular phenotype
p.Gln845His Multiple submitters Cardiovascular phenotype ⚠
p.Gln96Glu Multiple submitters Cardiovascular phenotype ⚠
p.Glu1103Ala Multiple submitters Cardiovascular phenotype
p.Glu1172Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2214Lys Multiple submitters ⚠
p.Glu2264Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu2315Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu2458Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu2498Ala Multiple submitters familial hypercholesterolemia ⚠
p.Glu2683Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu2798Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu2802Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu2939Gly Multiple submitters Cardiovascular phenotype ⚠
p.Glu2951Lys Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Glu29Lys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Glu3120Asp Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Glu4042Asp Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Glu4050Lys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Glu4061Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu4404Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu4558Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu462Gly Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Glu605Lys Multiple submitters familial hypercholesterolemia ⚠
p.Glu689Lys Multiple submitters Cardiovascular phenotype
p.Glu693Gly Multiple submitters Cardiovascular phenotype
p.Gly1041Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1122Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly1283Cys Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Gly1424Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly159Ser Multiple submitters Cardiovascular phenotype
p.Gly1720Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly3027Glu Multiple submitters familial hypobetalipoproteinemia 1
p.Gly3157Ala Multiple submitters Cardiovascular phenotype
p.Gly3335Arg Multiple submitters familial hypobetalipoproteinemia 1
p.Gly3383Ser Multiple submitters familial hypobetalipoproteinemia 1
p.Gly3408Ser Multiple submitters familial hypobetalipoproteinemia 1
p.Gly3502Arg Multiple submitters Cardiovascular phenotype
p.Gly3575Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly3617Asp Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Gly480Val Multiple submitters familial hypobetalipoproteinemia 1
p.Gly63Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly729Asp Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.His1910Tyr Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.His2280Pro Multiple submitters Cardiovascular phenotype ⚠
p.His2342Arg Multiple submitters Cardiovascular phenotype ⚠
p.His2507Arg Multiple submitters Cardiovascular phenotype ⚠
p.His255Gln Multiple submitters Cardiovascular phenotype
p.His2748Arg Multiple submitters Cardiovascular phenotype ⚠
p.His3365Arg Multiple submitters Cardiovascular phenotype ⚠
p.His3365Tyr Multiple submitters familial hypercholesterolemia ⚠
p.His402Arg Multiple submitters Cardiovascular phenotype ⚠
p.His4357Arg Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.His48Leu Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.His596Leu Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.His596Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His828Tyr Multiple submitters familial hypobetalipoproteinemia 1
p.Ile1011Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile1273Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ile2156Lys Multiple submitters Cardiovascular phenotype ⚠
p.Ile2156Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile2206Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile222Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile2233Thr Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ile2236Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile2276Thr Multiple submitters familial hypercholesterolemia ⚠
p.Ile228Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile2397Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile2489Arg Multiple submitters Cardiovascular phenotype
p.Ile2639Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile2652Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile2761Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile3228Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile3265Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile3435Thr Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Ile3559Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile3696Met Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ile3696Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile3864Val Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ile4054Thr Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ile4241Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile4333Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ile4535Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile817Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ile957Asn Multiple submitters Cardiovascular phenotype ⚠
p.Leu11Pro Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Leu12_Ala16delinsProAlaLeu Multiple submitters familial hypobetalipoproteinemia 1
p.Leu1345Trp Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Leu2191Ser Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Leu22dup Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Leu2393Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu2703Val Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Leu2726Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu2743Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu2771Phe Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Leu3037Arg Multiple submitters Cardiovascular phenotype
p.Leu3190Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu335Pro Multiple submitters Cardiovascular phenotype
p.Leu3377Met Multiple submitters Cardiovascular phenotype
p.Leu3505Pro Multiple submitters Cardiovascular phenotype
p.Leu3521Ser Multiple submitters Cardiovascular phenotype ⚠
p.Leu3665Ser Multiple submitters Cardiovascular phenotype
p.Leu3763Pro Multiple submitters Cardiovascular phenotype
p.Leu3924Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu3931Val Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Leu4067Pro Multiple submitters Cardiovascular phenotype
p.Leu406Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu4302Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu4403Pro Multiple submitters Cardiovascular phenotype
p.Leu521Pro Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Leu659Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu687Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu789Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu827Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu9dup Multiple submitters Cardiovascular phenotype
p.Lys1579Arg Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Lys1730Gln Multiple submitters Cardiovascular phenotype ⚠
p.Lys2139Asn Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Lys2148Met Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Lys2403Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys2591Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys293Glu Multiple submitters ⚠
p.Lys3028Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys3166Asn Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Lys3451Gln Multiple submitters Cardiovascular phenotype
p.Lys3524Thr Multiple submitters Cardiovascular phenotype
p.Lys3673Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys4076Glu Multiple submitters Cardiovascular phenotype ⚠
p.Lys4207Asn Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Lys4315Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys4358Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys4541Gln Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Lys613Gln Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Lys742Glu Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Lys768Glu Multiple submitters Cardiovascular phenotype ⚠
p.Met126Val Multiple submitters Cardiovascular phenotype ⚠
p.Met2042Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met2508Lys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Met2523Leu Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Met2843Ile Multiple submitters APOB-related disorder ⚠
p.Met306Leu Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Met3421Val Multiple submitters Cardiovascular phenotype ⚠
p.Met495Val Multiple submitters Cardiovascular phenotype ⚠
p.Met628Val Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Met812Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met887Lys Multiple submitters Cardiovascular phenotype
p.Phe1035Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe1051Leu Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Phe1455Leu Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Phe1581Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe270Leu Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Phe3263Ser Multiple submitters familial hypobetalipoproteinemia 1
p.Pro1274Leu Multiple submitters familial hypobetalipoproteinemia 1
p.Pro1343Arg Multiple submitters Cardiovascular phenotype
p.Pro15_Ala16del Multiple submitters familial hypobetalipoproteinemia 1
p.Pro1902Leu Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Pro2598Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro2753Leu Multiple submitters Cardiovascular phenotype
p.Pro292Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro2934Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro2953His Multiple submitters Cardiovascular phenotype ⚠
p.Pro3080His Multiple submitters Cardiovascular phenotype ⚠
p.Pro3452Ala Multiple submitters Cardiovascular phenotype
p.Pro3593Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro3614Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro3678Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro3865Ser Multiple submitters Cardiovascular phenotype
p.Pro3981Leu Multiple submitters hypercholesterolemia, autosomal dominant, type B
p.Pro4550Thr Multiple submitters familial hypercholesterolemia ⚠
p.Pro504Arg Multiple submitters familial hypobetalipoproteinemia 1
p.Pro536Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro85Ser Multiple submitters familial hypobetalipoproteinemia 1
p.Ser1372Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser1473Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ser1525Phe Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ser1543Phe Multiple submitters Cardiovascular phenotype ⚠
p.Ser1560Cys Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ser1608Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser1655Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser1745Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser1882Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser1961Asn Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ser2211Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser223Gly Multiple submitters Cardiovascular phenotype
p.Ser242Arg Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ser2501Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser2544Cys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ser2792Cys Multiple submitters hypercholesterolemia, autosomal dominant, type B ⚠
p.Ser2885Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser2901Cys Multiple submitters familial hypobetalipoproteinemia 1 ⚠
p.Ser3203Cys Multiple submitters familial hypercholesterolemia ⚠
p.Ser3238Phe Multiple submitters Cardiovascular phenotype
p.Ser3316Cys Multiple submitters Cardiovascular phenotype ⚠
p.Ser3424Pro Multiple submitters Cardiovascular phenotype ⚠