APOE — 243 ClinVar variants
All ClinVar germline APOE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →
11 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 13 Conflicting · 3 Benign · 1 Benign/Likely benign · 93 Likely benign · 114 Uncertain significance
Full APOE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 131
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 8
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
APOE p.Arg43Cys
Pathogenic/Likely pathogenic
Multiple submitters
age related macular degeneration 1
-
APOE p.Arg154His
Likely pathogenic
Single submitter
hyperlipoproteinemia type 3
-
APOE p.Arg160Cys
Likely pathogenic
Single submitter
hyperlipoproteinemia type 3
-
APOE p.Gly183Ala
Likely pathogenic
Single submitter
hyperlipoproteinemia type 3
-
APOE p.Arg152Gln
Pathogenic
No assertion criteria
APOE2 VARIANT
-
APOE p.Arg246Cys
Pathogenic
No assertion criteria
APOE2-DUNEDIN
-
APOE p.Arg292His
Pathogenic
No assertion criteria
APOE4 VARIANT
-
APOE p.Glu21Lys
Pathogenic
No assertion criteria
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
APOE p.Arg163His
Conflicting
Single submitter
familial hypercholesterolemia
-
APOE p.Arg165Pro
Conflicting
Single submitter
hyperlipoproteinemia type 3
-
APOE p.Ser314Arg
Conflicting
Single submitter
hyperlipoproteinemia type 3
-
APOE p.Thr11Ala
Conflicting
Single submitter
lipoprotein glomerulopathy
-
APOE p.Thr60Ala
Conflicting
Single submitter
Cardiovascular phenotype
-
APOE p.Val305Met
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
APOE p.Arg56His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Gln181His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Gly145Asp
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
APOE p.Gly187Val
Uncertain significance
Multiple submitters
familial hypercholesterolemia
-
APOE p.Trp294Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Ala104Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala120Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala142Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala182Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala188Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala234Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Ala80Thr Uncertain significance Single submitter
-
APOE p.Arg163Leu
Uncertain significance
Single submitter
lipoprotein glomerulopathy
-
APOE p.Arg176Pro
Uncertain significance
Single submitter
lipoprotein glomerulopathy
-
APOE p.Arg209Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg209Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg246His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Asp171Glu
Uncertain significance
Single submitter
Alzheimer disease 2
-
APOE p.Gln135Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Gln181Glu Uncertain significance Single submitter
-
APOE p.Gln181Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln181Lys
Uncertain significance
Single submitter
Alzheimer disease 2
-
APOE p.Gln219Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln266Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln39Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln42Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln99Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu139Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu299Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gly200Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gly206Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gly214Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gly240Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ile195Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu192Val
Uncertain significance
Single submitter
Alzheimer disease 2
-
APOE p.Leu221Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu247Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu89Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Lys90Glu Uncertain significance Single submitter
-
APOE p.Lys93Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Pro285His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ser72Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Thr11Ser
Uncertain significance
Single submitter
Alzheimer disease 2
-
APOE p.Thr148Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Thr243Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Val140Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Val208Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Val24Leu Uncertain significance Single submitter
-
APOE p.Val301Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln141Arg
Uncertain significance
No assertion criteria
familial hypercholesterolemia
Predictors split 67
The independent predictors disagree with each other — read with care.
-
APOE p.Arg246Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Arg269Gly
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
APOE p.Gln119Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Gln64His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Glu230Lys
Uncertain significance
Multiple submitters
Alzheimer disease 2
-
APOE p.Ser112Tyr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Val213Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Val254Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOE p.Ala124Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala14Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala211Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala255Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ala7Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg108Gln
Likely benign
Single submitter
Cardiovascular phenotype
-
APOE p.Arg121Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Arg132Cys Uncertain significance Single submitter
-
APOE p.Arg132Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Arg137Gly Uncertain significance Single submitter
-
APOE p.Arg154Cys
Conflicting
Single submitter
hyperlipoproteinemia type 3
-
APOE p.Arg154Leu
Likely pathogenic
Single submitter
Abnormal circulating lipid concentration
-
APOE p.Arg163Cys
Conflicting
Single submitter
Cardiovascular phenotype
-
APOE p.Arg165Trp
Uncertain significance
Single submitter
familial hypercholesterolemia
- APOE p.Arg168His Uncertain significance Single submitter
-
APOE p.Arg185Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg207Cys
Benign
Single submitter
Cardiovascular phenotype
-
APOE p.Arg224Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Arg231Leu Uncertain significance Single submitter
-
APOE p.Arg231Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg258Cys
Uncertain significance
Single submitter
familial hypercholesterolemia
-
APOE p.Arg258His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg278Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Arg278Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Arg50Ser Uncertain significance Single submitter
-
APOE p.Asp245Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Asp289Ala Uncertain significance Single submitter
-
APOE p.Glu106Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu127Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu237Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu238Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu256Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu262Lys
Conflicting
Single submitter
Cardiovascular phenotype
-
APOE p.Glu263Lys
Conflicting
Single submitter
Cardiovascular phenotype
-
APOE p.Glu273Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu31Lys
Conflicting
Single submitter
Alzheimer disease 3
-
APOE p.Glu37Lys
Uncertain significance
Single submitter
Alzheimer disease 2
-
APOE p.Glu67Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Glu95Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Gly191Asp Uncertain significance Single submitter
-
APOE p.Gly218Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gly240Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gly296Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu144Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu155Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu162Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu166Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu202Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu270Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Leu46Pro
Conflicting
Single submitter
Cardiovascular phenotype
-
APOE p.Lys300Met
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOE p.Lys93Asn Uncertain significance Single submitter
-
APOE p.Pro311Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Ser94Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Val301Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Val65Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOE p.Gln291His
Uncertain significance
No assertion criteria
familial hypercholesterolemia
-
APOE p.Lys164Gln
Pathogenic
No assertion criteria
Hyperlipoproteinemia, type III, due to APOE2
-
APOE p.Lys164Glu
Pathogenic
No assertion criteria
hyperlipoproteinemia type 3
All APOE variants
Pathogenic 11
- p.Leu167del Multiple submitters Cardiovascular phenotype
- c.237-2A>G No assertion criteria hyperlipoproteinemia type 3
- p.Arg152Gln No assertion criteria APOE2 VARIANT ⚠
- p.Arg163Pro No assertion criteria lipoprotein glomerulopathy
- p.Arg246Cys No assertion criteria APOE2-DUNEDIN ⚠
- p.Arg292His No assertion criteria APOE4 VARIANT ⚠
- p.Glu139_Gly145dup No assertion criteria hyperlipoproteinemia type 3
- p.Glu21Lys No assertion criteria HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 ⚠
- p.Gly49fs No assertion criteria hyperlipoproteinemia type 3
- p.Lys164Gln No assertion criteria Hyperlipoproteinemia, type III, due to APOE2 ⚠
- p.Lys164Glu No assertion criteria hyperlipoproteinemia type 3 ⚠
Pathogenic/Likely pathogenic 1
- p.Arg43Cys Multiple submitters age related macular degeneration 1 ⚠
Likely pathogenic 7
- p.Arg154Ser Multiple submitters familial hypercholesterolemia
- p.Trp228Ter Multiple submitters hyperlipoproteinemia type 3
- p.Arg154His Single submitter hyperlipoproteinemia type 3 ⚠
- p.Arg154Leu Single submitter Abnormal circulating lipid concentration ⚠
- p.Arg160Cys Single submitter hyperlipoproteinemia type 3 ⚠
- p.Gly183Ala Single submitter hyperlipoproteinemia type 3 ⚠
- p.Thr101fs Single submitter familial hypercholesterolemia
Conflicting classifications of pathogenicity 13
- c.-24+82G>A Single submitter hyperlipoproteinemia type 3
- p.Arg154Cys Single submitter hyperlipoproteinemia type 3 ⚠
- p.Arg163Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg163His Single submitter familial hypercholesterolemia ⚠
- p.Arg165Pro Single submitter hyperlipoproteinemia type 3 ⚠
- p.Glu262Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu263Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu31Lys Single submitter Alzheimer disease 3 ⚠
- p.Leu46Pro Single submitter Cardiovascular phenotype ⚠
- p.Ser314Arg Single submitter hyperlipoproteinemia type 3 ⚠
- p.Thr11Ala Single submitter lipoprotein glomerulopathy ⚠
- p.Thr60Ala Single submitter Cardiovascular phenotype ⚠
- p.Val305Met Single submitter Cardiovascular phenotype ⚠
Benign 3
- c.43+78G>A Multiple submitters
- c.-24+69C>G Single submitter
- p.Arg207Cys Single submitter Cardiovascular phenotype ⚠
Benign/Likely benign 1
- p.Ala217= Multiple submitters hyperlipoproteinemia type 3
Likely benign 93
- c.237-16_237-13del Multiple submitters familial hypercholesterolemia
- p.Ala23= Multiple submitters Cardiovascular phenotype
- p.Arg209= Multiple submitters Cardiovascular phenotype
- p.Asp83= Multiple submitters Alzheimer disease 3
- p.Glu127= Multiple submitters Cardiovascular phenotype
- p.Glu249= Multiple submitters Cardiovascular phenotype
- p.Pro30= Multiple submitters Cardiovascular phenotype
- p.Ser314= Multiple submitters Cardiovascular phenotype
- p.Ser40= Multiple submitters Cardiovascular phenotype
- p.Val213= Multiple submitters Cardiovascular phenotype
- c.-23-280C>T Single submitter
- c.*25C>T Single submitter familial hypercholesterolemia
- p.Ala104= Single submitter Cardiovascular phenotype
- p.Ala118= Single submitter Cardiovascular phenotype
- p.Ala124= Single submitter Cardiovascular phenotype
- p.Ala182= Single submitter Cardiovascular phenotype
- p.Ala184= Single submitter Cardiovascular phenotype
- p.Ala18Thr Single submitter Cardiovascular phenotype
- p.Ala234= Single submitter Cardiovascular phenotype
- p.Ala255= Single submitter Cardiovascular phenotype
- p.Ala304= Single submitter Cardiovascular phenotype
- p.Ala309= Single submitter Cardiovascular phenotype
- p.Ala310= Single submitter Cardiovascular phenotype
- p.Ala7= Single submitter Cardiovascular phenotype
- p.Ala80= Single submitter Cardiovascular phenotype
- p.Arg108Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg152= Single submitter Cardiovascular phenotype
- p.Arg154= Single submitter Cardiovascular phenotype
- p.Arg163= Single submitter Cardiovascular phenotype
- p.Arg185= Single submitter Cardiovascular phenotype
- p.Arg190= Single submitter Cardiovascular phenotype
- p.Arg196= Single submitter Cardiovascular phenotype
- p.Arg207= Single submitter Cardiovascular phenotype
- p.Arg224= Single submitter Cardiovascular phenotype
- p.Arg231= Single submitter Cardiovascular phenotype
- p.Arg233= Single submitter Cardiovascular phenotype
- p.Arg235= Single submitter Cardiovascular phenotype
- p.Arg242= Single submitter Cardiovascular phenotype
- p.Arg258= Single submitter Cardiovascular phenotype
- p.Arg33His Single submitter Cardiovascular phenotype
- p.Asp128= Single submitter Cardiovascular phenotype
- p.Asp171= Single submitter Cardiovascular phenotype
- p.Asp248Glu Single submitter Cardiovascular phenotype
- p.Asp315= Single submitter Cardiovascular phenotype
- p.Gln135= Single submitter Cardiovascular phenotype
- p.Gln205= Single submitter Cardiovascular phenotype
- p.Glu197= Single submitter Cardiovascular phenotype
- p.Glu21= Single submitter Cardiovascular phenotype
- p.Glu262= Single submitter Cardiovascular phenotype
- p.Glu263= Single submitter Cardiovascular phenotype
- p.Glu29= Single submitter Cardiovascular phenotype
- p.Glu299= Single submitter Cardiovascular phenotype
- p.Gly138= Single submitter Cardiovascular phenotype
- p.Gly214= Single submitter Cardiovascular phenotype
- p.His158= Single submitter Cardiovascular phenotype
- p.Ile268= Single submitter Cardiovascular phenotype
- p.Leu100= Single submitter Cardiovascular phenotype
- p.Leu133= Single submitter Cardiovascular phenotype
- p.Leu144= Single submitter Cardiovascular phenotype
- p.Leu151= Single submitter Cardiovascular phenotype
- p.Leu155= Single submitter Cardiovascular phenotype
- p.Leu159= Single submitter Cardiovascular phenotype
- p.Leu270= Single submitter Cardiovascular phenotype
- p.Leu286= Single submitter Cardiovascular phenotype
- p.Leu46= Single submitter Cardiovascular phenotype
- p.Leu55= Single submitter Cardiovascular phenotype
- p.Leu69= Single submitter Cardiovascular phenotype
- p.Leu70= Single submitter Cardiovascular phenotype
- p.Leu8= Single submitter Cardiovascular phenotype
- p.Lys113= Single submitter Cardiovascular phenotype
- p.Lys93= Single submitter Cardiovascular phenotype
- p.Phe275= Single submitter Cardiovascular phenotype
- p.Phe283= Single submitter Cardiovascular phenotype
- p.Phe51= Single submitter Cardiovascular phenotype
- p.Pro102= Single submitter Cardiovascular phenotype
- p.Pro28= Single submitter Cardiovascular phenotype
- p.Pro285= Single submitter Cardiovascular phenotype
- p.Ser112= Single submitter Cardiovascular phenotype
- p.Ser147= Single submitter Cardiovascular phenotype
- p.Ser308= Single submitter Cardiovascular phenotype
- p.Thr107= Single submitter Cardiovascular phenotype
- p.Thr148= Single submitter Cardiovascular phenotype
- p.Thr243= Single submitter Cardiovascular phenotype
- p.Thr243Ala Single submitter Cardiovascular phenotype
- p.Thr26Ala Single submitter Cardiovascular phenotype
- p.Thr36= Single submitter
- p.Tyr136= Single submitter Cardiovascular phenotype
- p.Val179= Single submitter Cardiovascular phenotype
- p.Val305Leu Single submitter Cardiovascular phenotype
- c.237-8G>C No assertion criteria APOE-related disorder
- c.*5C>T No assertion criteria APOE-related disorder
- p.Arg165= No assertion criteria APOE-related disorder
- p.Val129= No assertion criteria APOE-related disorder
Uncertain significance 114
- p.Arg110fs Multiple submitters hyperlipoproteinemia type 3
- p.Arg246Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Arg269Gly Multiple submitters Alzheimer disease 3 ⚠
- p.Arg56His Multiple submitters Cardiovascular phenotype ⚠
- p.Gln119Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Gln181His Multiple submitters Cardiovascular phenotype ⚠
- p.Gln64His Multiple submitters Cardiovascular phenotype ⚠
- p.Glu230Lys Multiple submitters Alzheimer disease 2 ⚠
- p.Gly145Asp Multiple submitters Alzheimer disease 3 ⚠
- p.Gly187Val Multiple submitters familial hypercholesterolemia ⚠
- p.Ser112Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.Trp294Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Val213Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Val254Glu Multiple submitters Cardiovascular phenotype ⚠
- c.237-17C>T Single submitter familial hypercholesterolemia
- c.44-7C>T Single submitter familial hypercholesterolemia
- c.-24+47G>A Single submitter APOE-related disorder
- p.159LRK[1] Single submitter
- p.Ala104Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala120Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala124Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala142Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala14Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala182Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala188Gly Single submitter Cardiovascular phenotype ⚠
- p.Ala211Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala234Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala255Val Single submitter Cardiovascular phenotype ⚠
- p.Ala7Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala80Thr Single submitter ⚠
- p.Arg121Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg132Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg137Gly Single submitter ⚠
- p.Arg163Leu Single submitter lipoprotein glomerulopathy ⚠
- p.Arg165Trp Single submitter familial hypercholesterolemia ⚠
- p.Arg168His Single submitter ⚠
- p.Arg176Pro Single submitter lipoprotein glomerulopathy ⚠
- p.Arg185Ser Single submitter Cardiovascular phenotype ⚠
- p.Arg209Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg209Trp Single submitter Cardiovascular phenotype ⚠
- p.Arg224Trp Single submitter Cardiovascular phenotype ⚠
- p.Arg231Leu Single submitter ⚠
- p.Arg231Trp Single submitter Cardiovascular phenotype ⚠
- p.Arg246His Single submitter Cardiovascular phenotype ⚠
- p.Arg258Cys Single submitter familial hypercholesterolemia ⚠
- p.Arg258His Single submitter Cardiovascular phenotype ⚠
- p.Arg278Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg278Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg50Ser Single submitter ⚠
- p.Asp171Glu Single submitter Alzheimer disease 2 ⚠
- p.Asp245Tyr Single submitter Cardiovascular phenotype ⚠
- p.Asp289Ala Single submitter ⚠
- p.Gln135Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln181Glu Single submitter ⚠
- p.Gln181Leu Single submitter Cardiovascular phenotype ⚠
- p.Gln181Lys Single submitter Alzheimer disease 2 ⚠
- p.Gln219Glu Single submitter Cardiovascular phenotype ⚠
- p.Gln266Glu Single submitter Cardiovascular phenotype ⚠
- p.Gln39Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln42Pro Single submitter Cardiovascular phenotype ⚠
- p.Gln64Ter Single submitter
- p.Gln99Arg Single submitter Cardiovascular phenotype ⚠
- p.Glu106Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu127Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu139Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu237Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu238Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu256Val Single submitter Cardiovascular phenotype ⚠
- p.Glu273Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu299Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu37Lys Single submitter Alzheimer disease 2 ⚠
- p.Glu67Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu95Lys Single submitter Cardiovascular phenotype ⚠
- p.Gly191Asp Single submitter ⚠
- p.Gly200Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly206Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly214Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly218Cys Single submitter Cardiovascular phenotype ⚠
- p.Gly240Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly240Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly296Trp Single submitter Cardiovascular phenotype ⚠
- p.Ile195Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu144Ile Single submitter Cardiovascular phenotype ⚠
- p.Leu155Val Single submitter Cardiovascular phenotype ⚠
- p.Leu162Met Single submitter Cardiovascular phenotype ⚠
- p.Leu166Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu192Val Single submitter Alzheimer disease 2 ⚠
- p.Leu202Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu221Val Single submitter Cardiovascular phenotype ⚠
- p.Leu247Val Single submitter Cardiovascular phenotype ⚠
- p.Leu270Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu89Ser Single submitter Cardiovascular phenotype ⚠
- p.Lys300Met Single submitter Cardiovascular phenotype ⚠
- p.Lys90Glu Single submitter ⚠
- p.Lys93Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys93Asn Single submitter ⚠
- p.Pro285His Single submitter Cardiovascular phenotype ⚠
- p.Pro311Leu Single submitter Cardiovascular phenotype ⚠
- p.Ser72Ala Single submitter Cardiovascular phenotype ⚠
- p.Ser94Trp Single submitter Cardiovascular phenotype ⚠
- p.Thr11Ser Single submitter Alzheimer disease 2 ⚠
- p.Thr148Pro Single submitter Cardiovascular phenotype ⚠
- p.Thr243Ser Single submitter Cardiovascular phenotype ⚠
- p.Trp38Ter Single submitter
- p.Val140Leu Single submitter Cardiovascular phenotype ⚠
- p.Val208Gly Single submitter Cardiovascular phenotype ⚠
- p.Val24Leu Single submitter ⚠
- p.Val301Leu Single submitter Cardiovascular phenotype ⚠
- p.Val301Met Single submitter Cardiovascular phenotype ⚠
- p.Val65Leu Single submitter Cardiovascular phenotype ⚠
- c.237-4G>T No assertion criteria familial hypercholesterolemia
- p.Gln141Arg No assertion criteria familial hypercholesterolemia ⚠
- p.Gln291His No assertion criteria familial hypercholesterolemia ⚠