APOA5 — 331 ClinVar variants
All ClinVar germline APOA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 17 Conflicting · 13 Benign · 8 Benign/Likely benign · 90 Likely benign · 188 Uncertain significance
Full APOA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 178
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
APOA5 p.Arg223Cys
Likely pathogenic
Single submitter
hypertriglyceridemia 1
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
APOA5 p.Ala315Val
Conflicting
Single submitter
Cardiovascular phenotype
-
APOA5 p.Arg40Met
Conflicting
Single submitter
Cardiovascular phenotype
-
APOA5 p.Pro215Leu
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APOA5 p.Ala105Ser Uncertain significance Multiple submitters
-
APOA5 p.Ala244Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Ala82Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Arg143His
Uncertain significance
Multiple submitters
APOA5-related disorder
-
APOA5 p.Arg233Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Arg40Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Gln145Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Gln174Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Gln247Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Gly185Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.His353Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- APOA5 p.Ile296Arg Uncertain significance Multiple submitters
-
APOA5 p.Leu129Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- APOA5 p.Leu136Pro Uncertain significance Multiple submitters
- APOA5 p.Leu250Pro Uncertain significance Multiple submitters
-
APOA5 p.Leu253Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Phe191Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- APOA5 p.Pro272Gln Uncertain significance Multiple submitters
-
APOA5 p.Pro317Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Ser232Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Thr236Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Ala105Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Ala169Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Ala297Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Ala323Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Ala325Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Ala325Thr Uncertain significance Single submitter
-
APOA5 p.Ala342Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Arg143Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Arg186Ser Uncertain significance Single submitter
- APOA5 p.Arg259Ser Uncertain significance Single submitter
- APOA5 p.Arg301Pro Uncertain significance Single submitter
- APOA5 p.Arg343His Uncertain significance Single submitter
- APOA5 p.Arg343Pro Uncertain significance Single submitter
-
APOA5 p.Arg51Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Asn66Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Asn66His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Asp332Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Asp365Glu Uncertain significance Single submitter
-
APOA5 p.Asp58Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Gln283Arg Uncertain significance Single submitter
-
APOA5 p.Gln311Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Gln330Glu Uncertain significance Single submitter
-
APOA5 p.Glu123Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Glu168Asp Uncertain significance Single submitter
-
APOA5 p.Glu267Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Glu280Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Glu327Gln Uncertain significance Single submitter
- APOA5 p.Glu52Asp Uncertain significance Single submitter
-
APOA5 p.Glu98Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gly165Ala
Uncertain significance
Single submitter
familial lipoprotein lipase deficiency
-
APOA5 p.Gly203Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gly203Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Gly263Asp Uncertain significance Single submitter
-
APOA5 p.Gly265Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Gly36Arg Uncertain significance Single submitter
-
APOA5 p.Gly79Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gly91Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.His183Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.His205Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.His362Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Leu198Pro Uncertain significance Single submitter
-
APOA5 p.Leu235Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Leu250Met
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Leu257Pro Uncertain significance Single submitter
- APOA5 p.Leu314Arg Uncertain significance Single submitter
-
APOA5 p.Leu314Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Lys188Arg Uncertain significance Single submitter
-
APOA5 p.Met134Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Met67Val Uncertain significance Single submitter
- APOA5 p.Met92Val Uncertain significance Single submitter
-
APOA5 p.Phe18Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Pro218Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Pro218Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Pro272Arg Uncertain significance Single submitter
-
APOA5 p.Pro272Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Pro274Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Pro83Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Pro86Ala Uncertain significance Single submitter
- APOA5 p.Ser16Leu Uncertain significance Single submitter
-
APOA5 p.Ser220Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Ser338Asn Uncertain significance Single submitter
- APOA5 p.Ser35Gly Uncertain significance Single submitter
-
APOA5 p.Ser361Arg
Uncertain significance
Single submitter
hyperlipoproteinemia type V
- APOA5 p.Ser3Asn Uncertain significance Single submitter
- APOA5 p.Ser59Ile Uncertain significance Single submitter
-
APOA5 p.Thr236Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Thr266Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Thr292Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Thr300Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Thr307Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Trp28Cys Uncertain significance Single submitter
-
APOA5 p.Val180Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Val181Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Val181Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Val206Met
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Val213Met Uncertain significance Single submitter
-
APOA5 p.Val230Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Val310Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Val41Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
Predictors split 74
The independent predictors disagree with each other — read with care.
-
APOA5 p.Ala302Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Arg226Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- APOA5 p.Arg94Trp Uncertain significance Multiple submitters
-
APOA5 p.Asp29Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Gln47His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- APOA5 p.Glu255Lys Uncertain significance Multiple submitters
-
APOA5 p.Glu99Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.His216Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.His356Tyr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Leu347Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Pro193Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Ser19Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Ser19Trp
Benign/Likely benign
Multiple submitters
hypertriglyceridemia 1
-
APOA5 p.Thr184Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Val281Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
APOA5 p.Ala214Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Ala214Val
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Ala342Val Uncertain significance Single submitter
-
APOA5 p.Arg106His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Arg152Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Arg179Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Arg204Cys Uncertain significance Single submitter
- APOA5 p.Arg245Cys Uncertain significance Single submitter
-
APOA5 p.Arg254Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Arg289Cys Uncertain significance Single submitter
-
APOA5 p.Arg301Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Arg301His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Arg343Cys
Uncertain significance
Single submitter
hypertriglyceridemia 1
-
APOA5 p.Arg94Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Asp167Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Asp291Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Asp345Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gln207Pro
Uncertain significance
Single submitter
dementia
- APOA5 p.Gln252His Uncertain significance Single submitter
-
APOA5 p.Glu189Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Glu196Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Glu208Lys Uncertain significance Single submitter
-
APOA5 p.Glu256Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Glu268Lys
Conflicting
Single submitter
Cardiovascular phenotype
- APOA5 p.Glu279Val Uncertain significance Single submitter
-
APOA5 p.Glu306Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Glu309Lys Uncertain significance Single submitter
- APOA5 p.Glu99Ala Uncertain significance Single submitter
-
APOA5 p.Gly155Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gly164Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gly185Cys
Conflicting
Single submitter
Cardiovascular phenotype
-
APOA5 p.Gly201Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Gly203Trp Uncertain significance Single submitter
-
APOA5 p.Gly26Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.His205Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.His210Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Leu15Phe Uncertain significance Single submitter
- APOA5 p.Leu173Pro Uncertain significance Single submitter
-
APOA5 p.Leu190Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Leu237Pro Uncertain significance Single submitter
- APOA5 p.Leu277Pro Uncertain significance Single submitter
-
APOA5 p.Leu60Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Leu64Val Uncertain significance Single submitter
- APOA5 p.Leu71Pro Uncertain significance Single submitter
-
APOA5 p.Met111Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Met111Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Pro193Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Ser200Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Ser220Ile Uncertain significance Single submitter
- APOA5 p.Ser35Asn Uncertain significance Single submitter
- APOA5 p.Thr158Ile Uncertain significance Single submitter
- APOA5 p.Thr236Met Uncertain significance Single submitter
-
APOA5 p.Thr264Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Thr292Ile Conflicting Single submitter
-
APOA5 p.Thr300Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Trp120Cys Uncertain significance Single submitter
-
APOA5 p.Val199Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
APOA5 p.Val7Met
Uncertain significance
Single submitter
Cardiovascular phenotype
- APOA5 p.Arg254Leu Uncertain significance No assertion criteria
All APOA5 variants
Pathogenic 6
- p.Gln97Ter Multiple submitters Cardiovascular phenotype
- p.Leu15fs Single submitter Cardiovascular phenotype
- p.Lys188Ter Single submitter Cardiovascular phenotype
- p.Tyr194fs Single submitter hyperlipoproteinemia type V
- c.162-13_162-2delinsACGGCCT No assertion criteria hyperlipoproteinemia type V
- p.Gln139Ter No assertion criteria hyperlipoproteinemia type V
Pathogenic/Likely pathogenic 1
- p.Asp332fs Multiple submitters Cardiovascular phenotype
Likely pathogenic 8
- p.Arg223Cys Single submitter hypertriglyceridemia 1 ⚠
- p.Arg259Ter Single submitter Cardiovascular phenotype
- p.Arg40fs Single submitter hyperlipoproteinemia type V
- p.Cys227Ter Single submitter hypertriglyceridemia 1
- p.Gln283Ter Single submitter
- p.Glu156Ter Single submitter Cardiovascular phenotype
- p.Glu52Ter Single submitter Cardiovascular phenotype
- p.Ile303fs Single submitter Autosomal dominant APOA5-related disorders
Conflicting classifications of pathogenicity 17
- p.Ala315Val Single submitter Cardiovascular phenotype ⚠
- p.Arg143fs Single submitter Cardiovascular phenotype
- p.Arg40Met Single submitter Cardiovascular phenotype ⚠
- p.Asp37fs Single submitter Cardiovascular phenotype
- p.Gln275Ter Single submitter hypertriglyceridemia 1
- p.Gln295Ter Single submitter
- p.Gln305Ter Single submitter Cardiovascular phenotype
- p.Gln313Ter Single submitter
- p.Glu268Lys Single submitter Cardiovascular phenotype ⚠
- p.Gly185Cys Single submitter Cardiovascular phenotype ⚠
- p.His182fs Single submitter Cardiovascular phenotype
- p.Ile296fs Single submitter Cardiovascular phenotype
- p.Leu242fs Single submitter Cardiovascular phenotype
- p.Pro215Leu Single submitter Cardiovascular phenotype ⚠
- p.Thr266fs Single submitter Cardiovascular phenotype
- p.Thr292Ile Single submitter ⚠
- p.Val166fs Single submitter Cardiovascular phenotype
Benign 13
- c.162-43A>G Multiple submitters
- c.49+55G>T Multiple submitters
- c.-3G>A Multiple submitters
- c.*158C>T Multiple submitters hypertriglyceridemia 1
- c.*31C>T Multiple submitters
- p.Glu255Gly Multiple submitters
- p.Ile44= Multiple submitters Cardiovascular phenotype
- p.Val153Met Multiple submitters Cardiovascular phenotype
- c.161+15dup Single submitter
- c.162-251del Single submitter
- c.-11C>G Single submitter
- c.*12C>T Single submitter
- c.*286AG[3] Single submitter
Benign/Likely benign 8
- c.162-8T>G Multiple submitters
- p.Ala114= Multiple submitters Cardiovascular phenotype
- p.Ala325= Multiple submitters Cardiovascular phenotype
- p.Arg24= Multiple submitters Cardiovascular phenotype
- p.Asp37Glu Multiple submitters Cardiovascular phenotype
- p.His321Leu Multiple submitters Cardiovascular phenotype
- p.Ser19Trp Multiple submitters hypertriglyceridemia 1 ⚠
- p.Thr55= Multiple submitters Cardiovascular phenotype
Likely benign 90
- c.161+14G>C Multiple submitters
- p.Ala222= Multiple submitters Cardiovascular phenotype
- p.Ala315= Multiple submitters Cardiovascular phenotype
- p.Arg143= Multiple submitters Cardiovascular phenotype
- p.Arg51= Multiple submitters Cardiovascular phenotype
- p.Arg93= Multiple submitters Cardiovascular phenotype
- p.Glu208= Multiple submitters Cardiovascular phenotype
- p.His192= Multiple submitters Cardiovascular phenotype
- p.His216= Multiple submitters Cardiovascular phenotype
- p.Ile202= Multiple submitters Cardiovascular phenotype
- p.Leu314= Multiple submitters Cardiovascular phenotype
- p.Leu56= Multiple submitters Cardiovascular phenotype
- p.Phe70= Multiple submitters Cardiovascular phenotype
- p.Pro318= Multiple submitters Cardiovascular phenotype
- p.Ser212= Multiple submitters Cardiovascular phenotype
- p.Ser232= Multiple submitters Cardiovascular phenotype
- p.Ser278= Multiple submitters Cardiovascular phenotype
- p.Ser80= Multiple submitters Cardiovascular phenotype
- p.Val199= Multiple submitters Cardiovascular phenotype
- p.Val206= Multiple submitters Cardiovascular phenotype
- c.161+19G>A Single submitter
- c.162-13del Single submitter
- c.49+10C>T Single submitter
- c.49+13C>A Single submitter
- c.49+8T>C Single submitter
- c.50-28G>A Single submitter
- c.50-9dup Single submitter
- c.*172C>T Single submitter
- p.Ala13= Single submitter Cardiovascular phenotype
- p.Ala160= Single submitter Cardiovascular phenotype
- p.Ala169= Single submitter
- p.Ala195= Single submitter Cardiovascular phenotype
- p.Ala214= Single submitter Cardiovascular phenotype
- p.Ala219= Single submitter Cardiovascular phenotype
- p.Ala241= Single submitter Cardiovascular phenotype
- p.Ala297= Single submitter
- p.Ala298= Single submitter
- p.Ala82= Single submitter Cardiovascular phenotype
- p.Arg152= Single submitter Cardiovascular phenotype
- p.Arg204His Single submitter Cardiovascular phenotype
- p.Arg75= Single submitter
- p.Arg94Gln Single submitter Cardiovascular phenotype
- p.Asn65= Single submitter Cardiovascular phenotype
- p.Asp157= Single submitter
- p.Asp345= Single submitter Cardiovascular phenotype
- p.Asp350= Single submitter
- p.Asp365= Single submitter
- p.Gln286= Single submitter Cardiovascular phenotype
- p.Glu168= Single submitter Cardiovascular phenotype
- p.Glu189Ala Single submitter Cardiovascular phenotype
- p.Glu255= Single submitter Cardiovascular phenotype
- p.Gly155= Single submitter Cardiovascular phenotype
- p.Gly164= Single submitter
- p.Gly165= Single submitter Cardiovascular phenotype
- p.Gly175= Single submitter Cardiovascular phenotype
- p.Gly334= Single submitter Cardiovascular phenotype
- p.Ile303= Single submitter Cardiovascular phenotype
- p.Leu173= Single submitter Cardiovascular phenotype
- p.Leu198= Single submitter Cardiovascular phenotype
- p.Leu209= Single submitter Cardiovascular phenotype
- p.Leu231= Single submitter Cardiovascular phenotype
- p.Leu250= Single submitter Cardiovascular phenotype
- p.Leu253= Single submitter Cardiovascular phenotype
- p.Leu294= Single submitter
- p.Leu96= Single submitter Cardiovascular phenotype
- p.Lys104= Single submitter Cardiovascular phenotype
- p.Lys188= Single submitter Cardiovascular phenotype
- p.Lys238= Single submitter Cardiovascular phenotype
- p.Lys25= Single submitter Cardiovascular phenotype
- p.Lys48= Single submitter Cardiovascular phenotype
- p.Phe187Val Single submitter Cardiovascular phenotype
- p.Pro193= Single submitter Cardiovascular phenotype
- p.Pro215Ser Single submitter Cardiovascular phenotype
- p.Pro221= Single submitter Cardiovascular phenotype
- p.Pro83= Single submitter Cardiovascular phenotype
- p.Pro89= Single submitter Cardiovascular phenotype
- p.Ser19= Single submitter Cardiovascular phenotype
- p.Ser197Arg Single submitter Cardiovascular phenotype
- p.Ser200Thr Single submitter Cardiovascular phenotype
- p.Ser220= Single submitter Cardiovascular phenotype
- p.Ser225= Single submitter Cardiovascular phenotype
- p.Ser35= Single submitter Cardiovascular phenotype
- p.Ser80Arg Single submitter Cardiovascular phenotype
- p.Thr292= Single submitter Cardiovascular phenotype
- p.Tyr194= Single submitter Cardiovascular phenotype
- p.Tyr293= Single submitter Cardiovascular phenotype
- p.Val153= Single submitter Cardiovascular phenotype
- p.Val41Met Single submitter Cardiovascular phenotype
- p.Val90= Single submitter Cardiovascular phenotype
- p.Asp273= No assertion criteria APOA5-related disorder
Uncertain significance 188
- c.161+3G>A Multiple submitters Cardiovascular phenotype
- c.161+5G>C Multiple submitters Cardiovascular phenotype
- p.Ala105Ser Multiple submitters ⚠
- p.Ala244Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Ala302Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala6_Ala13del Multiple submitters hypertriglyceridemia 1
- p.Ala82Val Multiple submitters Cardiovascular phenotype ⚠
- p.Arg143His Multiple submitters APOA5-related disorder ⚠
- p.Arg226Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg233Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg40Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg94Trp Multiple submitters ⚠
- p.Asp29Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Gln145Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gln174Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gln247Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gln47His Multiple submitters Cardiovascular phenotype ⚠
- p.Glu255Lys Multiple submitters ⚠
- p.Glu99Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly185Asp Multiple submitters Cardiovascular phenotype ⚠
- p.His216Gln Multiple submitters Cardiovascular phenotype ⚠
- p.His353Gln Multiple submitters Cardiovascular phenotype ⚠
- p.His356Tyr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile296Arg Multiple submitters ⚠
- p.Leu129Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu136Pro Multiple submitters ⚠
- p.Leu250Pro Multiple submitters ⚠
- p.Leu253Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Leu347Met Multiple submitters Cardiovascular phenotype ⚠
- p.Phe191Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Pro193Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro272Gln Multiple submitters ⚠
- p.Pro317Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Ser19Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Ser232Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Thr184Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr236Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Trp348Ter Multiple submitters Cardiovascular phenotype
- p.Val281Met Multiple submitters Cardiovascular phenotype ⚠
- c.162-5T>A Single submitter
- c.49+1G>A Single submitter
- c.49+5G>T Single submitter
- c.*17G>A Single submitter
- p.Ala105Asp Single submitter Cardiovascular phenotype ⚠
- p.Ala169Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala214Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala214Val Single submitter Cardiovascular phenotype ⚠
- p.Ala297Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala323Val Single submitter Cardiovascular phenotype ⚠
- p.Ala325Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala325Thr Single submitter ⚠
- p.Ala342Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala342Val Single submitter ⚠
- p.Arg106His Single submitter Cardiovascular phenotype ⚠
- p.Arg143Ser Single submitter Cardiovascular phenotype ⚠
- p.Arg152Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg179Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg186Ser Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg254Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg259Ser Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg301Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg301His Single submitter Cardiovascular phenotype ⚠
- p.Arg301Pro Single submitter ⚠
- p.Arg343Cys Single submitter hypertriglyceridemia 1 ⚠
- p.Arg343His Single submitter ⚠
- p.Arg343Pro Single submitter ⚠
- p.Arg51Pro Single submitter Cardiovascular phenotype ⚠
- p.Arg94Pro Single submitter Cardiovascular phenotype ⚠
- p.Asn66Asp Single submitter Cardiovascular phenotype ⚠
- p.Asn66His Single submitter Cardiovascular phenotype ⚠
- p.Asp167Val Single submitter Cardiovascular phenotype ⚠
- p.Asp291Val Single submitter Cardiovascular phenotype ⚠
- p.Asp332Glu Single submitter Cardiovascular phenotype ⚠
- p.Asp345Tyr Single submitter Cardiovascular phenotype ⚠
- p.Asp365Glu Single submitter ⚠
- p.Asp58Ala Single submitter Cardiovascular phenotype ⚠
- p.Gln207Pro Single submitter dementia ⚠
- p.Gln252His Single submitter ⚠
- p.Gln283Arg Single submitter ⚠
- p.Gln311Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln330Glu Single submitter ⚠
- p.Gln95Ter Single submitter
- p.Glu102Ter Single submitter
- p.Glu123Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu168Asp Single submitter ⚠
- p.Glu189Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu196fs Single submitter
- p.Glu196Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu208Lys Single submitter ⚠
- p.Glu256Val Single submitter Cardiovascular phenotype ⚠
- p.Glu267Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu279Val Single submitter ⚠
- p.Glu280Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu306Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu309Lys Single submitter ⚠
- p.Glu327Gln Single submitter ⚠
- p.Glu52Asp Single submitter ⚠
- p.Glu98Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu99Ala Single submitter ⚠
- p.Glu99del Single submitter
- p.Gly155Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly164Val Single submitter Cardiovascular phenotype ⚠
- p.Gly165Ala Single submitter familial lipoprotein lipase deficiency ⚠
- p.Gly201Cys Single submitter Cardiovascular phenotype ⚠
- p.Gly203Ala Single submitter Cardiovascular phenotype ⚠
- p.Gly203Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly203Trp Single submitter ⚠
- p.Gly263Asp Single submitter ⚠
- p.Gly265Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly26Ala Single submitter Cardiovascular phenotype ⚠
- p.Gly36Arg Single submitter ⚠
- p.Gly79Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly91Asp Single submitter Cardiovascular phenotype ⚠
- p.His183Leu Single submitter Cardiovascular phenotype ⚠
- p.His205Gln Single submitter Cardiovascular phenotype ⚠
- p.His205Tyr Single submitter Cardiovascular phenotype ⚠
- p.His210Tyr Single submitter Cardiovascular phenotype ⚠
- p.His362Tyr Single submitter Cardiovascular phenotype ⚠
- p.Ile351fs Single submitter
- p.Leu15Phe Single submitter ⚠
- p.Leu173Pro Single submitter ⚠
- p.Leu190Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu198Pro Single submitter ⚠
- p.Leu235Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu237Pro Single submitter ⚠
- p.Leu250Met Single submitter Cardiovascular phenotype ⚠
- p.Leu257Pro Single submitter ⚠
- p.Leu277Pro Single submitter ⚠
- p.Leu314Arg Single submitter ⚠
- p.Leu314Gln Single submitter Cardiovascular phenotype ⚠
- p.Leu60Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu64Val Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Lys188Arg Single submitter ⚠
- p.Met111Ile Single submitter Cardiovascular phenotype ⚠
- p.Met111Lys Single submitter Cardiovascular phenotype ⚠
- p.Met134Thr Single submitter Cardiovascular phenotype ⚠
- p.Met67Val Single submitter ⚠
- p.Met92Val Single submitter ⚠
- p.Phe18Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro193_Gly201delinsArg Single submitter Cardiovascular phenotype
- p.Pro193Gln Single submitter Cardiovascular phenotype ⚠
- p.Pro218Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro218Thr Single submitter Cardiovascular phenotype ⚠
- p.Pro272Arg Single submitter ⚠
- p.Pro272Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro274Thr Single submitter Cardiovascular phenotype ⚠
- p.Pro83Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro86Ala Single submitter ⚠
- p.Ser16Leu Single submitter ⚠
- p.Ser200Cys Single submitter Cardiovascular phenotype ⚠
- p.Ser220Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser220Ile Single submitter ⚠
- p.Ser338Asn Single submitter ⚠
- p.Ser35Asn Single submitter ⚠
- p.Ser35Gly Single submitter ⚠
- p.Ser361Arg Single submitter hyperlipoproteinemia type V ⚠
- p.Ser3Asn Single submitter ⚠
- p.Ser59Ile Single submitter ⚠
- p.Ser78fs Single submitter
- p.Thr133_Met134insAlaGluAlaHisGluLeuValGlyTrpAsnLeuGluGlyLeuArgGlnGlnLeuLysProTyrThr Single submitter hyperlipoproteinemia type V
- p.Thr158Ile Single submitter ⚠
- p.Thr236Met Single submitter ⚠
- p.Thr236Ser Single submitter Cardiovascular phenotype ⚠
- p.Thr264Asn Single submitter Cardiovascular phenotype ⚠
- p.Thr266Ser Single submitter Cardiovascular phenotype ⚠
- p.Thr292Pro Single submitter Cardiovascular phenotype ⚠
- p.Thr300Ala Single submitter Cardiovascular phenotype ⚠
- p.Thr300Asn Single submitter Cardiovascular phenotype ⚠
- p.Thr307Ala Single submitter Cardiovascular phenotype ⚠
- p.Trp120Cys Single submitter ⚠
- p.Trp170_Ala171del Single submitter
- p.Trp28Cys Single submitter ⚠
- p.Tyr110fs Single submitter
- p.Val180Leu Single submitter Cardiovascular phenotype ⚠
- p.Val181Gly Single submitter Cardiovascular phenotype ⚠
- p.Val181Leu Single submitter Cardiovascular phenotype ⚠
- p.Val199Met Single submitter Cardiovascular phenotype ⚠
- p.Val206Met Single submitter Cardiovascular phenotype ⚠
- p.Val213Met Single submitter ⚠
- p.Val230Met Single submitter Cardiovascular phenotype ⚠
- p.Val310Leu Single submitter Cardiovascular phenotype ⚠
- p.Val41Ala Single submitter Cardiovascular phenotype ⚠
- p.Val7Met Single submitter Cardiovascular phenotype ⚠
- p.Arg254Leu No assertion criteria ⚠