CETP — 366 ClinVar variants
All ClinVar germline CETP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →
4 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 15 Conflicting · 60 Benign · 16 Benign/Likely benign · 96 Likely benign · 169 Uncertain significance
Full CETP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 156
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 agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CETP p.Asp371Glu
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
-
CETP p.Asp459Gly
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
-
CETP p.Cys148Tyr
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
- CETP p.Glu25Lys Conflicting Single submitter
-
CETP p.Gly251Val
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
-
CETP p.Gly273Glu
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
-
CETP p.Ser418Thr
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
-
CETP p.Val106Met
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
- CETP p.Val239Ile Conflicting Single submitter
- CETP p.Val486Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 110
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CETP p.Ala87Ser Uncertain significance Multiple submitters
- CETP p.Asn319Lys Uncertain significance Multiple submitters
-
CETP p.Gln104Arg
Uncertain significance
Multiple submitters
Hyperalphalipoproteinemia 1
- CETP p.Glu482Lys Uncertain significance Multiple submitters
- CETP p.Gly330Ser Uncertain significance Multiple submitters
- CETP p.His341Arg Uncertain significance Multiple submitters
- CETP p.Ile228Thr Uncertain significance Multiple submitters
- CETP p.Leu290Pro Uncertain significance Multiple submitters
-
CETP p.Leu449Ile
Uncertain significance
Multiple submitters
Hyperalphalipoproteinemia 1
- CETP p.Lys347Glu Uncertain significance Multiple submitters
- CETP p.Lys395Arg Uncertain significance Multiple submitters
- CETP p.Lys395Glu Uncertain significance Multiple submitters
- CETP p.Lys46Glu Uncertain significance Multiple submitters
- CETP p.Phe398Ser Uncertain significance Multiple submitters
- CETP p.Thr113Ser Uncertain significance Multiple submitters
- CETP p.Thr415Ser Uncertain significance Multiple submitters
-
CETP p.Thr8Ile
Uncertain significance
Multiple submitters
Hyperalphalipoproteinemia 1
-
CETP p.Val340Ile
Uncertain significance
Multiple submitters
Hyperalphalipoproteinemia 1
- CETP p.Ala15Ser Uncertain significance Single submitter
- CETP p.Ala336Val Uncertain significance Single submitter
- CETP p.Ala432Ser Uncertain significance Single submitter
- CETP p.Ala432Thr Uncertain significance Single submitter
- CETP p.Ala65Pro Uncertain significance Single submitter
- CETP p.Ala87Thr Uncertain significance Single submitter
- CETP p.Arg175Gln Uncertain significance Single submitter
- CETP p.Arg285Gln Uncertain significance Single submitter
- CETP p.Arg299His Uncertain significance Single submitter
- CETP p.Arg369His Uncertain significance Single submitter
- CETP p.Asn105Ser Uncertain significance Single submitter
- CETP p.Asn358Lys Uncertain significance Single submitter
- CETP p.Asp131Asn Uncertain significance Single submitter
- CETP p.Asp274Glu Uncertain significance Single submitter
- CETP p.Asp307His Uncertain significance Single submitter
- CETP p.Asp371Ala Uncertain significance Single submitter
- CETP p.Asp383His Uncertain significance Single submitter
- CETP p.Asp459Asn Uncertain significance Single submitter
-
CETP p.Asp459His
Uncertain significance
Single submitter
Hyperalphalipoproteinemia 1
- CETP p.Cys30Gly Uncertain significance Single submitter
- CETP p.Gln128Leu Uncertain significance Single submitter
- CETP p.Gln199Leu Uncertain significance Single submitter
- CETP p.Gln351Leu Uncertain significance Single submitter
- CETP p.Gln405His Uncertain significance Single submitter
- CETP p.Gln423His Uncertain significance Single submitter
- CETP p.Gln475Arg Uncertain significance Single submitter
-
CETP p.Gln80Arg
Uncertain significance
Single submitter
Hyperalphalipoproteinemia 1
- CETP p.Gln90Lys Uncertain significance Single submitter
- CETP p.Glu133Lys Uncertain significance Single submitter
- CETP p.Glu174Lys Uncertain significance Single submitter
- CETP p.Glu43Lys Uncertain significance Single submitter
- CETP p.Glu63Lys Uncertain significance Single submitter
- CETP p.Gly125Cys Uncertain significance Single submitter
- CETP p.Gly125Val Uncertain significance Single submitter
- CETP p.Gly151Ser Uncertain significance Single submitter
- CETP p.Gly226Ala Uncertain significance Single submitter
- CETP p.Gly331Val Uncertain significance Single submitter
- CETP p.Gly434Asp Uncertain significance Single submitter
- CETP p.Gly454Asp Uncertain significance Single submitter
- CETP p.His42Gln Uncertain significance Single submitter
- CETP p.His483Arg Uncertain significance Single submitter
- CETP p.His83Gln Uncertain significance Single submitter
- CETP p.Ile180Phe Uncertain significance Single submitter
- CETP p.Ile222Phe Uncertain significance Single submitter
- CETP p.Ile228Val Uncertain significance Single submitter
- CETP p.Ile240Val Uncertain significance Single submitter
- CETP p.Ile28Val Uncertain significance Single submitter
- CETP p.Ile430Val Uncertain significance Single submitter
- CETP p.Ile466Met Uncertain significance Single submitter
- CETP p.Leu245Met Uncertain significance Single submitter
- CETP p.Leu271Arg Uncertain significance Single submitter
- CETP p.Leu40Phe Uncertain significance Single submitter
- CETP p.Leu473Gln Uncertain significance Single submitter
- CETP p.Lys34Thr Uncertain significance Single submitter
- CETP p.Lys409Met Uncertain significance Single submitter
- CETP p.Lys453Gln Uncertain significance Single submitter
- CETP p.Lys64Arg Uncertain significance Single submitter
- CETP p.Lys73Thr Uncertain significance Single submitter
- CETP p.Met362Ile Uncertain significance Single submitter
- CETP p.Met439Ile Uncertain significance Single submitter
- CETP p.Met450Thr Uncertain significance Single submitter
- CETP p.Met476Val Uncertain significance Single submitter
- CETP p.Met67Lys Uncertain significance Single submitter
- CETP p.Phe398Val Uncertain significance Single submitter
- CETP p.Pro177Leu Uncertain significance Single submitter
- CETP p.Pro436Ser Uncertain significance Single submitter
- CETP p.Ser221Ile Uncertain significance Single submitter
- CETP p.Ser23Leu Uncertain significance Single submitter
- CETP p.Ser334Thr Uncertain significance Single submitter
- CETP p.Ser421Phe Uncertain significance Single submitter
- CETP p.Ser56Arg Uncertain significance Single submitter
- CETP p.Ser98Cys Uncertain significance Single submitter
- CETP p.Thr120Ala Uncertain significance Single submitter
- CETP p.Thr235Ser Uncertain significance Single submitter
- CETP p.Thr339Asn Uncertain significance Single submitter
- CETP p.Thr379Ser Uncertain significance Single submitter
- CETP p.Thr387Ala Uncertain significance Single submitter
- CETP p.Thr50Ile Uncertain significance Single submitter
- CETP p.Trp316Arg Uncertain significance Single submitter
- CETP p.Trp316Cys Uncertain significance Single submitter
- CETP p.Tyr378Cys Uncertain significance Single submitter
- CETP p.Val109Asp Uncertain significance Single submitter
- CETP p.Val206Ile Uncertain significance Single submitter
- CETP p.Val293Leu Uncertain significance Single submitter
- CETP p.Val312Glu Uncertain significance Single submitter
- CETP p.Val357Gly Uncertain significance Single submitter
- CETP p.Val361Ala Uncertain significance Single submitter
- CETP p.Val388Ile Uncertain significance Single submitter
- CETP p.Val39Leu Uncertain significance Single submitter
- CETP p.Val433Gly Uncertain significance Single submitter
- CETP p.Val455Leu Uncertain significance Single submitter
-
CETP p.Val72Leu
Uncertain significance
Single submitter
Hyperalphalipoproteinemia 1
Predictors split 36
The independent predictors disagree with each other — read with care.
- CETP p.Ala212Asp Uncertain significance Multiple submitters
- CETP p.Ala291Asp Uncertain significance Multiple submitters
-
CETP p.Arg154Trp
Benign/Likely benign
Multiple submitters
Hyperalphalipoproteinemia 1
- CETP p.Arg299Cys Uncertain significance Multiple submitters
-
CETP p.Arg31His
Uncertain significance
Multiple submitters
Hyperalphalipoproteinemia 1
-
CETP p.Arg369Cys
Uncertain significance
Multiple submitters
cholesterol-ester transfer protein deficiency
- CETP p.Phe478Leu Uncertain significance Multiple submitters
- CETP p.Ser275Pro Uncertain significance Multiple submitters
- CETP p.Thr415Ile Uncertain significance Multiple submitters
-
CETP p.Thr61Met
Uncertain significance
Multiple submitters
Hyperalphalipoproteinemia 1
- CETP p.Tyr244Cys Uncertain significance Multiple submitters
- CETP p.Arg154Gln Uncertain significance Single submitter
- CETP p.Arg276Cys Uncertain significance Single submitter
- CETP p.Arg31Cys Uncertain significance Single submitter
- CETP p.Arg54Pro Uncertain significance Single submitter
- CETP p.Asp469Val Uncertain significance Single submitter
- CETP p.Cys30Tyr Conflicting Single submitter
- CETP p.Glu203Val Uncertain significance Single submitter
-
CETP p.Glu314Lys
Conflicting
Single submitter
Hyperalphalipoproteinemia 1
-
CETP p.Glu443Lys
Uncertain significance
Single submitter
Hyperalphalipoproteinemia 1
- CETP p.Ile81Asn Uncertain significance Single submitter
-
CETP p.Leu223Arg
Uncertain significance
Single submitter
Hyperalphalipoproteinemia 1
- CETP p.Leu485Pro Uncertain significance Single submitter
- CETP p.Leu68Pro Uncertain significance Single submitter
- CETP p.Lys395Ile Uncertain significance Single submitter
-
CETP p.Phe267Leu
Uncertain significance
Single submitter
cholesterol-ester transfer protein deficiency
- CETP p.Ser268Leu Uncertain significance Single submitter
- CETP p.Ser419Cys Uncertain significance Single submitter
- CETP p.Ser452Gly Uncertain significance Single submitter
- CETP p.Ser89Arg Uncertain significance Single submitter
- CETP p.Thr147Pro Uncertain significance Single submitter
- CETP p.Thr320Asn Uncertain significance Single submitter
- CETP p.Thr415Ala Uncertain significance Single submitter
- CETP p.Trp281Arg Uncertain significance Single submitter
- CETP p.Val153Gly Uncertain significance Single submitter
- CETP p.Val29Met Uncertain significance Single submitter
All CETP variants
Pathogenic 4
- c.981+2T>C Single submitter Hyperalphalipoproteinemia 1
- p.Gln90Ter Single submitter Hyperalphalipoproteinemia 1
- p.Ser56fs Single submitter
- c.1321+2dup No assertion criteria Hyperalphalipoproteinemia 1
Pathogenic/Likely pathogenic 1
- c.1321+1G>A Multiple submitters hereditary spastic paraplegia 52
Likely pathogenic 5
- p.Arg54Ter Multiple submitters Hyperalphalipoproteinemia 1
- p.Ala294fs Single submitter Hyperalphalipoproteinemia 1
- p.Gln322Ter Single submitter Hyperalphalipoproteinemia 1
- p.Ser89fs Single submitter Hyperalphalipoproteinemia 1
- c.598-1G>C No assertion criteria CETP-related disorder
Conflicting classifications of pathogenicity 15
- p.Asp371Glu Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Asp459Gly Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Cys148Tyr Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Cys30Tyr Single submitter ⚠
- p.Gln182Ter Single submitter Hyperalphalipoproteinemia 1
- p.Gln326Ter Single submitter cholesterol-ester transfer protein deficiency
- p.Glu25Lys Single submitter ⚠
- p.Glu314Lys Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Gly251Val Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Gly273Glu Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Leu262fs Single submitter Hyperalphalipoproteinemia 1
- p.Ser418Thr Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Val106Met Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Val239Ile Single submitter ⚠
- p.Val486Met Single submitter ⚠
Benign 60
- c.118+149T>C Multiple submitters
- c.118+202G>A Multiple submitters
- c.118+279G>A Multiple submitters coronary artery disorder
- c.118+95C>A Multiple submitters
- c.1215-14C>T Multiple submitters Hyperalphalipoproteinemia 1
- c.1215-15G>T Multiple submitters Hyperalphalipoproteinemia 1
- c.1215-96G>A Multiple submitters
- c.1408-30G>A Multiple submitters
- c.233+36A>G Multiple submitters
- c.234-152T>C Multiple submitters
- c.439+11A>C Multiple submitters Hyperalphalipoproteinemia 1
- c.440-103G>T Multiple submitters
- c.527+64T>C Multiple submitters
- c.527+67T>C Multiple submitters
- c.528-56G>A Multiple submitters
- c.658+8C>T Multiple submitters Hyperalphalipoproteinemia 1
- c.659-140C>G Multiple submitters
- c.659-22C>T Multiple submitters
- c.751-51T>C Multiple submitters
- c.930+188G>A Multiple submitters
- c.930+24T>G Multiple submitters
- c.930+29G>A Multiple submitters
- c.981+132T>G Multiple submitters
- c.982-67C>T Multiple submitters
- c.-65G>A Multiple submitters Hyperalphalipoproteinemia 1
- c.*84G>A Multiple submitters Hyperalphalipoproteinemia 1
- p.Ala15Gly Multiple submitters Hyperalphalipoproteinemia 1
- p.Ala390Pro Multiple submitters Hyperalphalipoproteinemia 1
- p.Arg468Gln Multiple submitters Hyperalphalipoproteinemia 1
- p.Ile28= Multiple submitters Hyperalphalipoproteinemia 1
- p.Phe287= Multiple submitters Hyperalphalipoproteinemia 1
- p.Thr387= Multiple submitters Hyperalphalipoproteinemia 1
- p.Val422Ile Multiple submitters Hyperalphalipoproteinemia 1
- p.Val433= Multiple submitters Hyperalphalipoproteinemia 1
- c.1146+212T>G Single submitter
- c.1147-195A>G Single submitter
- c.119-273C>A Single submitter
- c.119-274_119-273del Single submitter
- c.1214+108T>C Single submitter
- c.1214+199_1214+210del Single submitter
- c.1215-112C>G Single submitter
- c.1215-179A>G Single submitter
- c.1248+133T>C Single submitter
- c.1321+153T>C Single submitter
- c.1322-236T>G Single submitter
- c.233+197G>A Single submitter
- c.234-255C>T Single submitter
- c.439+8_439+13dup Single submitter
- c.440-8C>G Single submitter
- c.528-198A>G Single submitter
- c.528-19T>A Single submitter
- c.658+186C>A Single submitter
- c.658+257C>T Single submitter
- c.931-4del Single submitter
- c.981+137C>T Single submitter
- p.Glu381= Single submitter
- p.His24= Single submitter
- p.Leu76= Single submitter
- p.Ser421= Single submitter
- p.Val355= Single submitter
Benign/Likely benign 16
- c.1146+7C>T Multiple submitters Hyperalphalipoproteinemia 1
- c.598-13C>G Multiple submitters Hyperalphalipoproteinemia 1
- p.Ala212= Multiple submitters Hyperalphalipoproteinemia 1
- p.Arg154Trp Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- p.Asp307= Multiple submitters Hyperalphalipoproteinemia 1
- p.Asp459= Multiple submitters Hyperalphalipoproteinemia 1
- p.Gln490= Multiple submitters Hyperalphalipoproteinemia 1
- p.Gly178= Multiple submitters Hyperalphalipoproteinemia 1
- p.Gly331Ser Multiple submitters Hyperalphalipoproteinemia 1
- p.His252= Multiple submitters
- p.Ser221Arg Multiple submitters Hyperalphalipoproteinemia 1
- p.Ser268= Multiple submitters Hyperalphalipoproteinemia 1
- p.Ser349Tyr Multiple submitters Hyperalphalipoproteinemia 1
- p.Thr22= Multiple submitters Hyperalphalipoproteinemia 1
- p.Thr339= Multiple submitters Hyperalphalipoproteinemia 1
- p.Val385Met Multiple submitters Hyperalphalipoproteinemia 1
Likely benign 96
- c.118+270C>T Multiple submitters
- c.118+51C>A Multiple submitters
- c.1215-140G>A Multiple submitters
- c.1322-72C>T Multiple submitters
- c.368+29T>C Multiple submitters
- c.369-16C>T Multiple submitters
- c.659-142C>T Multiple submitters
- c.750+77G>A Multiple submitters
- c.930+230A>G Multiple submitters
- c.930+90G>A Multiple submitters
- p.Asp156Asn Multiple submitters Hyperalphalipoproteinemia 1
- p.Gln104= Multiple submitters Hyperalphalipoproteinemia 1
- p.Gly434= Multiple submitters Hyperalphalipoproteinemia 1
- p.Thr410= Multiple submitters
- c.1146+187C>T Single submitter
- c.1146+8G>A Single submitter
- c.1147-9T>C Single submitter
- c.119-215G>T Single submitter
- c.1214+152A>C Single submitter
- c.1214+20G>C Single submitter
- c.1215-16C>T Single submitter
- c.1215-19C>T Single submitter
- c.1215-7A>G Single submitter
- c.1249-12T>A Single submitter
- c.1249-19A>G Single submitter
- c.1321+15del Single submitter
- c.1321+165A>G Single submitter
- c.1322-14G>A Single submitter
- c.1408-20C>T Single submitter
- c.233+15G>A Single submitter
- c.233+227G>T Single submitter
- c.233+8G>A Single submitter
- c.234-273G>T Single submitter
- c.369-10C>T Single submitter
- c.369-8C>G Single submitter
- c.440-10C>T Single submitter
- c.440-15C>G Single submitter
- c.440-5T>C Single submitter
- c.527+12A>G Single submitter
- c.528-11G>T Single submitter
- c.597+18A>T Single submitter
- c.598-15C>T Single submitter
- c.598-18C>T Single submitter
- c.658+132T>C Single submitter
- c.750+10G>T Single submitter
- c.750+19T>G Single submitter
- c.750+7G>C Single submitter
- c.751-17G>A Single submitter
- c.751-18C>T Single submitter
- c.931-9T>C Single submitter
- c.981+102A>G Single submitter
- c.981+8C>T Single submitter
- c.982-119C>T Single submitter
- c.982-15C>A Single submitter
- c.982-16C>A Single submitter
- c.982-177C>T Single submitter
- p.Ala121= Single submitter
- p.Ala15Val Single submitter
- p.Ala26= Single submitter
- p.Ala36= Single submitter
- p.Ala87= Single submitter
- p.Arg369= Single submitter
- p.Asn105= Single submitter
- p.Asn14= Single submitter
- p.Asn358Ser Single submitter
- p.Gln372= Single submitter
- p.Gln90Arg Single submitter
- p.Gly273= Single submitter
- p.Gly330= Single submitter
- p.Gly454= Single submitter
- p.His374= Single submitter
- p.Ile188Val Single submitter
- p.Ile430= Single submitter
- p.Leu140= Single submitter
- p.Leu183= Single submitter
- p.Leu245= Single submitter
- p.Leu414= Single submitter
- p.Leu442= Single submitter
- p.Leu473= Single submitter
- p.Lys193= Single submitter
- p.Phe132= Single submitter
- p.Ser233= Single submitter
- p.Ser289= Single submitter
- p.Ser359= Single submitter
- p.Ser400= Single submitter
- p.Ser452= Single submitter
- p.Ser456Gly Single submitter
- p.Thr120= Single submitter
- p.Thr155= Single submitter
- p.Thr266= Single submitter
- p.Thr431= Single submitter
- p.Thr61= Single submitter
- p.Val153= Single submitter
- p.Val455Met Single submitter
- p.Val6Asp Single submitter
- p.Ser150= No assertion criteria CETP-related disorder
Uncertain significance 169
- c.597+5G>A Multiple submitters
- p.Ala212Asp Multiple submitters ⚠
- p.Ala291Asp Multiple submitters ⚠
- p.Ala87Ser Multiple submitters ⚠
- p.Arg299Cys Multiple submitters ⚠
- p.Arg31His Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- p.Arg369Cys Multiple submitters cholesterol-ester transfer protein deficiency ⚠
- p.Arg468Ter Multiple submitters
- p.Asn319Lys Multiple submitters ⚠
- p.Gln104Arg Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- p.Glu482Lys Multiple submitters ⚠
- p.Gly330Ser Multiple submitters ⚠
- p.His341Arg Multiple submitters ⚠
- p.Ile228Thr Multiple submitters ⚠
- p.Leu290Pro Multiple submitters ⚠
- p.Leu449Ile Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- p.Lys347Glu Multiple submitters ⚠
- p.Lys395Arg Multiple submitters ⚠
- p.Lys395Glu Multiple submitters ⚠
- p.Lys46Glu Multiple submitters ⚠
- p.Phe398Ser Multiple submitters ⚠
- p.Phe478Leu Multiple submitters ⚠
- p.Ser275Pro Multiple submitters ⚠
- p.Thr113Ser Multiple submitters ⚠
- p.Thr415Ile Multiple submitters ⚠
- p.Thr415Ser Multiple submitters ⚠
- p.Thr61Met Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- p.Thr8Ile Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- p.Tyr244Cys Multiple submitters ⚠
- p.Val340Ile Multiple submitters Hyperalphalipoproteinemia 1 ⚠
- c.118+4_118+7del Single submitter
- c.1214+3A>G Single submitter
- c.1249-6T>A Single submitter
- c.1407+5G>A Single submitter
- c.1408-7C>T Single submitter Hyperalphalipoproteinemia 1
- c.369-12G>A Single submitter
- c.434_439+97del Single submitter
- c.439+1G>A Single submitter
- c.440-14G>A Single submitter
- c.527+5G>A Single submitter
- c.527+6T>A Single submitter
- c.528-13T>C Single submitter
- c.597+2T>A Single submitter
- c.750+5G>A Single submitter
- c.930+6T>C Single submitter
- p.Ala15Ser Single submitter ⚠
- p.Ala336Val Single submitter ⚠
- p.Ala432Ser Single submitter ⚠
- p.Ala432Thr Single submitter ⚠
- p.Ala65Pro Single submitter ⚠
- p.Ala87Thr Single submitter ⚠
- p.Arg154Gln Single submitter ⚠
- p.Arg175= Single submitter
- p.Arg175Gln Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg299His Single submitter ⚠
- p.Arg31Cys Single submitter ⚠
- p.Arg369His Single submitter ⚠
- p.Arg54Pro Single submitter ⚠
- p.Asn105Ser Single submitter ⚠
- p.Asn358Lys Single submitter ⚠
- p.Asp131Asn Single submitter ⚠
- p.Asp274Glu Single submitter ⚠
- p.Asp307His Single submitter ⚠
- p.Asp371Ala Single submitter ⚠
- p.Asp383His Single submitter ⚠
- p.Asp459Asn Single submitter ⚠
- p.Asp459His Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Asp469Val Single submitter ⚠
- p.Cys30Gly Single submitter ⚠
- p.Gln128Leu Single submitter ⚠
- p.Gln199Leu Single submitter ⚠
- p.Gln351Leu Single submitter ⚠
- p.Gln405His Single submitter ⚠
- p.Gln423His Single submitter ⚠
- p.Gln475Arg Single submitter ⚠
- p.Gln80Arg Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Gln90Lys Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu174Lys Single submitter ⚠
- p.Glu176= Single submitter
- p.Glu203Val Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu443Lys Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly125Cys Single submitter ⚠
- p.Gly125Val Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Gly226Ala Single submitter ⚠
- p.Gly331Val Single submitter ⚠
- p.Gly434Asp Single submitter ⚠
- p.Gly454Asp Single submitter ⚠
- p.His42Gln Single submitter ⚠
- p.His483Arg Single submitter ⚠
- p.His77= Single submitter
- p.His83Gln Single submitter ⚠
- p.Ile180Phe Single submitter ⚠
- p.Ile222Phe Single submitter ⚠
- p.Ile228Val Single submitter ⚠
- p.Ile240Val Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Ile430Val Single submitter ⚠
- p.Ile466Met Single submitter ⚠
- p.Ile81Asn Single submitter ⚠
- p.Leu223Arg Single submitter Hyperalphalipoproteinemia 1 ⚠
- p.Leu245Met Single submitter ⚠
- p.Leu271Arg Single submitter ⚠
- p.Leu290= Single submitter Hyperalphalipoproteinemia 1
- p.Leu40Phe Single submitter ⚠
- p.Leu473Gln Single submitter ⚠
- p.Leu485Pro Single submitter ⚠
- p.Leu68Pro Single submitter ⚠
- p.Lys34Thr Single submitter ⚠
- p.Lys395Ile Single submitter ⚠
- p.Lys409Met Single submitter ⚠
- p.Lys453Gln Single submitter ⚠
- p.Lys64Arg Single submitter ⚠
- p.Lys73Thr Single submitter ⚠
- p.Met362Ile Single submitter ⚠
- p.Met439Ile Single submitter ⚠
- p.Met450Thr Single submitter ⚠
- p.Met476Val Single submitter ⚠
- p.Met67Lys Single submitter ⚠
- p.Phe267Leu Single submitter cholesterol-ester transfer protein deficiency ⚠
- p.Phe318fs Single submitter
- p.Phe367= Single submitter Hyperalphalipoproteinemia 1
- p.Phe398Val Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro368fs Single submitter
- p.Pro436Ser Single submitter ⚠
- p.Ser221Ile Single submitter ⚠
- p.Ser23Leu Single submitter ⚠
- p.Ser268Leu Single submitter ⚠
- p.Ser334Thr Single submitter ⚠
- p.Ser419Cys Single submitter ⚠
- p.Ser421Phe Single submitter ⚠
- p.Ser452Gly Single submitter ⚠
- p.Ser56Arg Single submitter ⚠
- p.Ser89Arg Single submitter ⚠
- p.Ser98Cys Single submitter ⚠
- p.Ter494Tyr Single submitter
- p.Thr120Ala Single submitter ⚠
- p.Thr147Pro Single submitter ⚠
- p.Thr235Ser Single submitter ⚠
- p.Thr320Asn Single submitter ⚠
- p.Thr339Asn Single submitter ⚠
- p.Thr379Ser Single submitter ⚠
- p.Thr387Ala Single submitter ⚠
- p.Thr415Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Trp281Arg Single submitter ⚠
- p.Trp316Arg Single submitter ⚠
- p.Trp316Cys Single submitter ⚠
- p.Tyr378Cys Single submitter ⚠
- p.Val109Asp Single submitter ⚠
- p.Val153Gly Single submitter ⚠
- p.Val206= Single submitter
- p.Val206Ile Single submitter ⚠
- p.Val293Leu Single submitter ⚠
- p.Val29Met Single submitter ⚠
- p.Val312Glu Single submitter ⚠
- p.Val357Gly Single submitter ⚠
- p.Val361Ala Single submitter ⚠
- p.Val388Ile Single submitter ⚠
- p.Val39Leu Single submitter ⚠
- p.Val433Gly Single submitter ⚠
- p.Val455Leu Single submitter ⚠
- p.Val72Leu Single submitter Hyperalphalipoproteinemia 1 ⚠