LDLRAP1 — 611 ClinVar variants
All ClinVar germline LDLRAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →
28 Pathogenic · 10 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 32 Conflicting · 14 Benign · 5 Benign/Likely benign · 266 Likely benign · 233 Uncertain significance
Full LDLRAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 172
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 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LDLRAP1 p.Ala208Thr
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Ala284Thr
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Arg238Gln
Conflicting
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Arg238Trp
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Arg95Gln
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Asn138Ser
Conflicting
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp303Asn
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Gly190Ala
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Lys127Arg
Conflicting
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Ser202Tyr
Conflicting
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Thr209Ile
Conflicting
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Thr218Ile
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Thr225Ala
Conflicting
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Thr41Met
Conflicting
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Val226Ile
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 119
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LDLRAP1 p.Ala133Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ala168Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ala228Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ala69Thr
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Ala70Thr
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Ala76Gly
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Arg196Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Arg27Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Arg39Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Asp101Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Glu235Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Glu257Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Gly23Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Gly24Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ile113Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ile113Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Leu85Val
Uncertain significance
Multiple submitters
familial hypercholesterolemia
-
LDLRAP1 p.Lys166Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Met281Thr
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Pro201Arg
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Pro237Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ser205Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ser49Gly
Uncertain significance
Multiple submitters
familial hypercholesterolemia
-
LDLRAP1 p.Ser93Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Thr200Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Thr209Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Thr38Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Trp22Leu
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Trp35Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Val111Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Val161Ile
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Val271Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Val75Met
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Ala162Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ala164Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ala219Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ala68Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg115Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg196Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg196Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Arg261Lys Uncertain significance Single submitter
-
LDLRAP1 p.Arg27Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg27Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg39Trp
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Arg73Gly
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Asn102His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asn110Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp101His
Uncertain significance
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Asp234Glu
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Asp256Glu
Uncertain significance
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Asp280Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp291Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp291Tyr
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Asp293Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Cys143Tyr Uncertain significance Single submitter
-
LDLRAP1 p.Cys199Phe
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
- LDLRAP1 p.Cys286Phe Uncertain significance Single submitter
-
LDLRAP1 p.Gln173Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gln20Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gln264Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gln285Arg
Uncertain significance
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Glu177Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Glu180Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Glu188Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Glu188Gln
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Glu235Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Glu44Lys Uncertain significance Single submitter
-
LDLRAP1 p.Gly189Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gly189Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gly23Trp
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Gly244Asp
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Gly24Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Gly24Val Uncertain significance Single submitter
-
LDLRAP1 p.Gly254Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gly26Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gly26Ser
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Gly82Arg
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
- LDLRAP1 p.Gly96Glu Uncertain significance Single submitter
-
LDLRAP1 p.His125Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.His282Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ile108Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ile116Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ile116Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ile97Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Leu17Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Leu215Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Leu53Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys123Glu
Uncertain significance
Single submitter
familial hypercholesterolemia
-
LDLRAP1 p.Lys152Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys166Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys19Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys294Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys83Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Met124Val
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Met153Thr Uncertain significance Single submitter
- LDLRAP1 p.Met281Lys Uncertain significance Single submitter
-
LDLRAP1 p.Met55Val
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Phe129Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Phe146Leu Uncertain significance Single submitter
- LDLRAP1 p.Pro201Ala Uncertain significance Single submitter
-
LDLRAP1 p.Pro201Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Pro239Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Pro32Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Pro94Gln Uncertain significance Single submitter
-
LDLRAP1 p.Ser135Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ser186Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ser245Cys
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
- LDLRAP1 p.Ser245Gly Uncertain significance Single submitter
-
LDLRAP1 p.Ser246Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ser288Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Thr225Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Thr225Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Thr230Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Trp292Gly
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Tyr131Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Val207Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Val248Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp296His
Uncertain significance
No assertion criteria
familial hypercholesterolemia
-
LDLRAP1 p.Leu57Ile
Uncertain significance
No assertion criteria
familial hypercholesterolemia
Predictors split 38
The independent predictors disagree with each other — read with care.
-
LDLRAP1 p.Ala156Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Arg151Gln
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Arg151Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Arg182Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LDLRAP1 p.Arg95Trp Uncertain significance Multiple submitters
-
LDLRAP1 p.Asn34Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Glu178Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ile132Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Ser16Arg
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Thr100Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Thr36Ile
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Thr41Lys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LDLRAP1 p.Trp22Arg
Uncertain significance
Multiple submitters
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Ala121Val
Uncertain significance
Single submitter
Cardiovascular phenotype
- LDLRAP1 p.Ala130Thr Uncertain significance Single submitter
- LDLRAP1 p.Ala156Thr Uncertain significance Single submitter
-
LDLRAP1 p.Ala3Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ala7Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg266Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg266Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg39Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Arg9Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asn110Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp126Asn
Conflicting
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Asp256Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gln136Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gln155Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Glu109Asp
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.His144Arg
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.His28Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Ile71Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Leu159Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys79Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Lys79Glu
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Met46Ile
Uncertain significance
Single submitter
hypercholesterolemia, familial, 4
-
LDLRAP1 p.Met46Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Trp22Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LDLRAP1 p.Gly275Asp
Uncertain significance
No assertion criteria
familial hypercholesterolemia
All LDLRAP1 variants
Pathogenic 28
- c.89-1G>C Multiple submitters LDLRAP1-related disorders
- p.Ala156fs Multiple submitters hypercholesterolemia, familial, 4
- p.Gln136Ter Multiple submitters Cardiovascular phenotype
- p.Glu217Ter Multiple submitters familial hypercholesterolemia
- p.Gly24fs Multiple submitters Cardiovascular phenotype
- p.His144fs Multiple submitters Cardiovascular phenotype
- c.89-2A>G Single submitter hypercholesterolemia, familial, 4
- p.Ala70fs Single submitter hypercholesterolemia, familial, 4
- p.Ala7fs Single submitter familial hypercholesterolemia
- p.Asp101fs Single submitter hypercholesterolemia, familial, 4
- p.Asp183fs Single submitter hypercholesterolemia, familial, 4
- p.Asp191fs Single submitter hypercholesterolemia, familial, 4
- p.Cys143Ter Single submitter
- p.Cys148fs Single submitter hypercholesterolemia, familial, 4
- p.Gln134Ter Single submitter hypercholesterolemia, familial, 4
- p.Gln163Ter Single submitter hypercholesterolemia, familial, 4
- p.Gln187Ter Single submitter hypercholesterolemia, familial, 4
- p.Gln20Ter Single submitter hypercholesterolemia, familial, 4
- p.Gln60Ter Single submitter hypercholesterolemia, familial, 4
- p.Gly190fs Single submitter hypercholesterolemia, familial, 4
- p.Leu50fs Single submitter hypercholesterolemia, familial, 4
- p.Leu90fs Single submitter hypercholesterolemia, familial, 4
- p.Lys19fs Single submitter hypercholesterolemia, familial, 4
- p.Ser202fs Single submitter hypercholesterolemia, familial, 4
- p.Ser6Ter Single submitter hypercholesterolemia, familial, 4
- p.Trp172Ter Single submitter hypercholesterolemia, familial, 4
- p.Ala145fs No assertion criteria hypercholesterolemia, familial, 4
- p.Gly26fs No assertion criteria hypercholesterolemia, familial, 4
Pathogenic/Likely pathogenic 10
- c.344+1G>A Multiple submitters Cardiovascular phenotype
- c.460-1G>A Multiple submitters hypercholesterolemia, familial, 4
- p.Ala76fs Multiple submitters familial hypercholesterolemia
- p.Arg9fs Multiple submitters Cardiovascular phenotype
- p.Leu147fs Multiple submitters hypercholesterolemia, familial, 4
- p.Phe48fs Multiple submitters Cardiovascular phenotype
- p.Ser135fs Multiple submitters familial hypercholesterolemia
- p.Thr38fs Multiple submitters familial hypercholesterolemia
- p.Trp22Ter Multiple submitters familial hypercholesterolemia
- p.Trp35Ter Multiple submitters familial hypercholesterolemia
Likely pathogenic 23
- c.532+1G>A Multiple submitters hypercholesterolemia, familial, 4
- c.533-1G>A Multiple submitters familial hypercholesterolemia
- c.617-2A>G Multiple submitters hypercholesterolemia, familial, 4
- c.748-608G>A Multiple submitters Cardiovascular phenotype
- p.Met1Ile Multiple submitters familial hypercholesterolemia
- p.Met1Val Multiple submitters familial hypercholesterolemia
- c.231+1G>A Single submitter hypercholesterolemia, familial, 4
- c.231+1G>T Single submitter hypercholesterolemia, familial, 4
- c.232-2A>G Single submitter hypercholesterolemia, familial, 4
- c.344+2T>C Single submitter hypercholesterolemia, familial, 4
- c.459+2T>G Single submitter hypercholesterolemia, familial, 4
- c.747+1G>C Single submitter hypercholesterolemia, familial, 4
- p.Ala195fs Single submitter familial hypercholesterolemia
- p.Gln106Ter Single submitter
- p.Gln163Pro Single submitter familial hypercholesterolemia
- p.Gln270Ter Single submitter familial hypercholesterolemia
- p.Glu170fs Single submitter familial hypercholesterolemia
- p.Glu180fs Single submitter hypercholesterolemia, familial, 4
- p.Leu212fs Single submitter hypercholesterolemia, familial, 4
- p.Lys30Ter Single submitter LDLRAP1-related disorders
- p.Lys83fs Single submitter familial hypercholesterolemia
- p.Lys91fs Single submitter familial hypercholesterolemia
- p.Tyr52fs Single submitter
Conflicting classifications of pathogenicity 32
- c.344+4C>T Single submitter Cardiovascular phenotype
- c.345-14T>C Single submitter familial hypercholesterolemia
- c.747+13G>A Single submitter hypercholesterolemia, familial, 4
- c.748-4C>A Single submitter familial hypercholesterolemia
- c.748-7C>G Single submitter familial hypercholesterolemia
- c.-80C>A Single submitter hypercholesterolemia, familial, 4
- p.Ala154= Single submitter familial hypercholesterolemia
- p.Ala208Thr Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Ala284Thr Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Arg238Gln Single submitter familial hypercholesterolemia ⚠
- p.Arg238Trp Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Arg95Gln Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Asn138= Single submitter hypercholesterolemia, familial, 4
- p.Asn138Ser Single submitter Cardiovascular phenotype ⚠
- p.Asp126Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp303Asn Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Gly190Ala Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Gly25= Single submitter Cardiovascular phenotype
- p.His125= Single submitter Cardiovascular phenotype
- p.Ile132= Single submitter hypercholesterolemia, familial, 4
- p.Lys127Arg Single submitter familial hypercholesterolemia ⚠
- p.Lys62= Single submitter Cardiovascular phenotype
- p.Ser202His Single submitter Cardiovascular phenotype
- p.Ser202Tyr Single submitter familial hypercholesterolemia ⚠
- p.Ser224= Single submitter hypercholesterolemia, familial, 4
- p.Ser67= Single submitter hypercholesterolemia, familial, 4
- p.Thr209Ile Single submitter Cardiovascular phenotype ⚠
- p.Thr218Ile Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Thr225Ala Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Thr41Met Single submitter Cardiovascular phenotype ⚠
- p.Val226Ile Single submitter Cardiovascular phenotype ⚠
- p.Val92= Single submitter hypercholesterolemia, familial, 4
Benign 14
- c.616+28G>A Multiple submitters hypercholesterolemia, familial, 4
- c.783-118G>T Multiple submitters hypercholesterolemia, familial, 4
- c.*1370G>T Multiple submitters hypercholesterolemia, familial, 4
- c.*1755C>T Multiple submitters hypercholesterolemia, familial, 4
- c.*1794G>A Multiple submitters hypercholesterolemia, familial, 4
- c.*63G>A Multiple submitters hypercholesterolemia, familial, 4
- c.459+22G>T Single submitter hypercholesterolemia, familial, 4
- c.748-4dup Single submitter hypercholesterolemia, familial, 4
- c.748-8del Single submitter hypercholesterolemia, familial, 4
- c.748-98_748-97del Single submitter
- c.89-3897A>G Single submitter
- c.*1793C>T Single submitter hypercholesterolemia, familial, 4
- c.*1880C>T Single submitter hypercholesterolemia, familial, 4
- c.*596C>T Single submitter hypercholesterolemia, familial, 4
Benign/Likely benign 5
- c.617-14C>G Multiple submitters hypercholesterolemia, familial, 4
- c.-46G>C Multiple submitters hypercholesterolemia, familial, 4
- p.His144= Multiple submitters hypercholesterolemia, familial, 4
- p.Thr218= Multiple submitters hypercholesterolemia, familial, 4
- p.Thr218Met Multiple submitters Cardiovascular phenotype
Likely benign 266
- c.232-13G>C Multiple submitters hypercholesterolemia, familial, 4
- c.459+7G>C Multiple submitters hypercholesterolemia, familial, 4
- c.533-7C>A Multiple submitters hypercholesterolemia, familial, 4
- c.616+12C>T Multiple submitters hypercholesterolemia, familial, 4
- c.617-8C>T Multiple submitters hypercholesterolemia, familial, 4
- c.748-4C>T Multiple submitters Cardiovascular phenotype
- c.88+17C>T Multiple submitters hypercholesterolemia, familial, 4
- c.88+18_88+22dup Multiple submitters hypercholesterolemia, familial, 4
- c.89-16C>T Multiple submitters hypercholesterolemia, familial, 4
- p.Ala130= Multiple submitters Cardiovascular phenotype
- p.Ala208= Multiple submitters Cardiovascular phenotype
- p.Ala258= Multiple submitters Cardiovascular phenotype
- p.Ala69= Multiple submitters Cardiovascular phenotype
- p.Ala76= Multiple submitters Cardiovascular phenotype
- p.Asn110= Multiple submitters Cardiovascular phenotype
- p.Asp191= Multiple submitters hypercholesterolemia, familial, 4
- p.Asp2= Multiple submitters hypercholesterolemia, familial, 4
- p.Asp234= Multiple submitters Cardiovascular phenotype
- p.Asp296= Multiple submitters Cardiovascular phenotype
- p.Asp304= Multiple submitters Cardiovascular phenotype
- p.Cys148= Multiple submitters Cardiovascular phenotype
- p.Gln279= Multiple submitters hypercholesterolemia, familial, 4
- p.Gln302= Multiple submitters Cardiovascular phenotype
- p.Glu142= Multiple submitters hypercholesterolemia, familial, 4
- p.Glu170= Multiple submitters Cardiovascular phenotype
- p.Glu216= Multiple submitters Cardiovascular phenotype
- p.Gly189= Multiple submitters hypercholesterolemia, familial, 4
- p.Gly23= Multiple submitters hypercholesterolemia, familial, 4
- p.Ile74= Multiple submitters hypercholesterolemia, familial, 4
- p.Leu141= Multiple submitters hypercholesterolemia, familial, 4
- p.Leu193= Multiple submitters Cardiovascular phenotype
- p.Leu203= Multiple submitters Cardiovascular phenotype
- p.Leu215= Multiple submitters hypercholesterolemia, familial, 4
- p.Leu305= Multiple submitters Cardiovascular phenotype
- p.Leu4= Multiple submitters Cardiovascular phenotype
- p.Leu47= Multiple submitters hypercholesterolemia, familial, 4
- p.Leu57= Multiple submitters Cardiovascular phenotype
- p.Lys127= Multiple submitters Cardiovascular phenotype
- p.Lys184= Multiple submitters Cardiovascular phenotype
- p.Lys204= Multiple submitters Cardiovascular phenotype
- p.Pro222= Multiple submitters Cardiovascular phenotype
- p.Ser135= Multiple submitters Cardiovascular phenotype
- p.Ser14= Multiple submitters Cardiovascular phenotype
- p.Ser140= Multiple submitters Cardiovascular phenotype
- p.Ser227= Multiple submitters Cardiovascular phenotype
- p.Ser260= Multiple submitters hypercholesterolemia, familial, 4
- p.Ser298= Multiple submitters Cardiovascular phenotype
- p.Ser93= Multiple submitters Cardiovascular phenotype
- p.Thr100= Multiple submitters Cardiovascular phenotype
- p.Thr120= Multiple submitters hypercholesterolemia, familial, 4
- p.Thr267= Multiple submitters hypercholesterolemia, familial, 4
- p.Thr38= Multiple submitters hypercholesterolemia, familial, 4
- p.Thr41= Multiple submitters Cardiovascular phenotype
- p.Thr56= Multiple submitters Cardiovascular phenotype
- p.Tyr131= Multiple submitters Cardiovascular phenotype
- p.Tyr283= Multiple submitters hypercholesterolemia, familial, 4
- p.Val167= Multiple submitters Cardiovascular phenotype
- p.Val290= Multiple submitters Cardiovascular phenotype
- c.231+11C>T Single submitter hypercholesterolemia, familial, 4
- c.231+12A>G Single submitter hypercholesterolemia, familial, 4
- c.231+13G>T Single submitter hypercholesterolemia, familial, 4
- c.231+17G>A Single submitter hypercholesterolemia, familial, 4
- c.231+19A>C Single submitter hypercholesterolemia, familial, 4
- c.231+8C>A Single submitter hypercholesterolemia, familial, 4
- c.231+8C>T Single submitter hypercholesterolemia, familial, 4
- c.231+9C>G Single submitter hypercholesterolemia, familial, 4
- c.232-13G>A Single submitter hypercholesterolemia, familial, 4
- c.232-13G>T Single submitter hypercholesterolemia, familial, 4
- c.232-20G>T Single submitter hypercholesterolemia, familial, 4
- c.232-4C>G Single submitter hypercholesterolemia, familial, 4
- c.232-5C>T Single submitter hypercholesterolemia, familial, 4
- c.232-7T>C Single submitter hypercholesterolemia, familial, 4
- c.232-8C>T Single submitter hypercholesterolemia, familial, 4
- c.344+10G>A Single submitter hypercholesterolemia, familial, 4
- c.344+12A>G Single submitter hypercholesterolemia, familial, 4
- c.344+12A>T Single submitter hypercholesterolemia, familial, 4
- c.344+14G>C Single submitter hypercholesterolemia, familial, 4
- c.344+15G>A Single submitter hypercholesterolemia, familial, 4
- c.344+20G>A Single submitter hypercholesterolemia, familial, 4
- c.344+7T>C Single submitter hypercholesterolemia, familial, 4
- c.344+8C>A Single submitter hypercholesterolemia, familial, 4
- c.345-13C>T Single submitter hypercholesterolemia, familial, 4
- c.345-16C>T Single submitter hypercholesterolemia, familial, 4
- c.345-7C>T Single submitter hypercholesterolemia, familial, 4
- c.345-8C>T Single submitter hypercholesterolemia, familial, 4
- c.459+10G>A Single submitter hypercholesterolemia, familial, 4
- c.459+11A>G Single submitter hypercholesterolemia, familial, 4
- c.459+13G>A Single submitter hypercholesterolemia, familial, 4
- c.459+14G>A Single submitter hypercholesterolemia, familial, 4
- c.459+15C>T Single submitter hypercholesterolemia, familial, 4
- c.459+16T>C Single submitter hypercholesterolemia, familial, 4
- c.459+19G>A Single submitter hypercholesterolemia, familial, 4
- c.459+19G>C Single submitter hypercholesterolemia, familial, 4
- c.459+20G>C Single submitter hypercholesterolemia, familial, 4
- c.459+7G>A Single submitter hypercholesterolemia, familial, 4
- c.460-10C>T Single submitter hypercholesterolemia, familial, 4
- c.460-10del Single submitter hypercholesterolemia, familial, 4
- c.460-17C>A Single submitter hypercholesterolemia, familial, 4
- c.460-18C>G Single submitter hypercholesterolemia, familial, 4
- c.460-19C>T Single submitter hypercholesterolemia, familial, 4
- c.460-4T>G Single submitter hypercholesterolemia, familial, 4
- c.460-8G>T Single submitter hypercholesterolemia, familial, 4
- c.532+13A>T Single submitter hypercholesterolemia, familial, 4
- c.532+20T>C Single submitter hypercholesterolemia, familial, 4
- c.532+7C>A Single submitter hypercholesterolemia, familial, 4
- c.532+7C>T Single submitter hypercholesterolemia, familial, 4
- c.532+9T>C Single submitter hypercholesterolemia, familial, 4
- c.533-18_533-16del Single submitter hypercholesterolemia, familial, 4
- c.533-18T>G Single submitter hypercholesterolemia, familial, 4
- c.533-20G>A Single submitter hypercholesterolemia, familial, 4
- c.533-4G>A Single submitter hypercholesterolemia, familial, 4
- c.533-5T>C Single submitter hypercholesterolemia, familial, 4
- c.616+10G>A Single submitter hypercholesterolemia, familial, 4
- c.616+12C>A Single submitter hypercholesterolemia, familial, 4
- c.616+13G>A Single submitter hypercholesterolemia, familial, 4
- c.616+14G>A Single submitter hypercholesterolemia, familial, 4
- c.616+20G>A Single submitter hypercholesterolemia, familial, 4
- c.616+7C>A Single submitter hypercholesterolemia, familial, 4
- c.616+8C>G Single submitter hypercholesterolemia, familial, 4
- c.616+8C>T Single submitter hypercholesterolemia, familial, 4
- c.617-13G>C Single submitter hypercholesterolemia, familial, 4
- c.617-14_617-13dup Single submitter hypercholesterolemia, familial, 4
- c.617-14C>T Single submitter hypercholesterolemia, familial, 4
- c.617-15C>T Single submitter hypercholesterolemia, familial, 4
- c.617-20C>A Single submitter hypercholesterolemia, familial, 4
- c.617-20C>T Single submitter hypercholesterolemia, familial, 4
- c.617-9C>G Single submitter hypercholesterolemia, familial, 4
- c.747+12T>C Single submitter hypercholesterolemia, familial, 4
- c.747+16G>A Single submitter hypercholesterolemia, familial, 4
- c.747+7G>A Single submitter hypercholesterolemia, familial, 4
- c.747+9T>C Single submitter hypercholesterolemia, familial, 4
- c.748-15T>C Single submitter hypercholesterolemia, familial, 4
- c.748-16C>T Single submitter hypercholesterolemia, familial, 4
- c.748-18T>C Single submitter hypercholesterolemia, familial, 4
- c.748-20C>T Single submitter hypercholesterolemia, familial, 4
- c.748-4del Single submitter hypercholesterolemia, familial, 4
- c.748-5C>T Single submitter hypercholesterolemia, familial, 4
- c.782+10G>A Single submitter hypercholesterolemia, familial, 4
- c.782+10G>C Single submitter hypercholesterolemia, familial, 4
- c.782+11C>T Single submitter hypercholesterolemia, familial, 4
- c.782+19G>C Single submitter hypercholesterolemia, familial, 4
- c.782+19G>T Single submitter hypercholesterolemia, familial, 4
- c.782+7C>T Single submitter hypercholesterolemia, familial, 4
- c.783-11C>T Single submitter hypercholesterolemia, familial, 4
- c.783-13CT[4] Single submitter hypercholesterolemia, familial, 4
- c.783-15A>C Single submitter hypercholesterolemia, familial, 4
- c.783-16C>T Single submitter hypercholesterolemia, familial, 4
- c.783-17A>G Single submitter hypercholesterolemia, familial, 4
- c.783-20C>G Single submitter hypercholesterolemia, familial, 4
- c.783-6T>C Single submitter hypercholesterolemia, familial, 4
- c.783-7C>T Single submitter hypercholesterolemia, familial, 4
- c.88+15G>C Single submitter hypercholesterolemia, familial, 4
- c.88+19GCCGG[4] Single submitter hypercholesterolemia, familial, 4
- c.89-10G>A Single submitter hypercholesterolemia, familial, 4
- c.89-13T>C Single submitter hypercholesterolemia, familial, 4
- c.89-14C>T Single submitter hypercholesterolemia, familial, 4
- c.89-14del Single submitter hypercholesterolemia, familial, 4
- c.89-17A>G Single submitter hypercholesterolemia, familial, 4
- c.89-20C>T Single submitter hypercholesterolemia, familial, 4
- c.89-4C>G Single submitter hypercholesterolemia, familial, 4
- c.89-4C>T Single submitter hypercholesterolemia, familial, 4
- c.89-5C>G Single submitter hypercholesterolemia, familial, 4
- c.89-5C>T Single submitter hypercholesterolemia, familial, 4
- c.89-6C>T Single submitter hypercholesterolemia, familial, 4
- c.89-8T>C Single submitter hypercholesterolemia, familial, 4
- c.*1115C>T Single submitter hypercholesterolemia, familial, 4
- c.*1222T>C Single submitter hypercholesterolemia, familial, 4
- c.*1711G>A Single submitter hypercholesterolemia, familial, 4
- c.*238C>T Single submitter hypercholesterolemia, familial, 4
- c.*506C>T Single submitter hypercholesterolemia, familial, 4
- c.*803C>T Single submitter hypercholesterolemia, familial, 4
- p.Ala10= Single submitter hypercholesterolemia, familial, 4
- p.Ala121= Single submitter hypercholesterolemia, familial, 4
- p.Ala133= Single submitter hypercholesterolemia, familial, 4
- p.Ala145= Single submitter Cardiovascular phenotype
- p.Ala18= Single submitter hypercholesterolemia, familial, 4
- p.Ala195= Single submitter hypercholesterolemia, familial, 4
- p.Ala219= Single submitter hypercholesterolemia, familial, 4
- p.Ala284= Single submitter Cardiovascular phenotype
- p.Ala3= Single submitter hypercholesterolemia, familial, 4
- p.Ala68= Single submitter hypercholesterolemia, familial, 4
- p.Ala7= Single submitter hypercholesterolemia, familial, 4
- p.Arg151= Single submitter hypercholesterolemia, familial, 4
- p.Arg196= Single submitter hypercholesterolemia, familial, 4
- p.Arg39= Single submitter
- p.Arg73= Single submitter hypercholesterolemia, familial, 4
- p.Asn102= Single submitter hypercholesterolemia, familial, 4
- p.Asn232= Single submitter hypercholesterolemia, familial, 4
- p.Asp101= Single submitter hypercholesterolemia, familial, 4
- p.Asp280= Single submitter hypercholesterolemia, familial, 4
- p.Cys143= Single submitter hypercholesterolemia, familial, 4
- p.Gln197= Single submitter hypercholesterolemia, familial, 4
- p.Gln240= Single submitter Cardiovascular phenotype
- p.Glu109= Single submitter hypercholesterolemia, familial, 4
- p.Glu257= Single submitter hypercholesterolemia, familial, 4
- p.Glu33= Single submitter Cardiovascular phenotype
- p.Glu44= Single submitter hypercholesterolemia, familial, 4
- p.Glu64= Single submitter hypercholesterolemia, familial, 4
- p.Gly210= Single submitter hypercholesterolemia, familial, 4
- p.Gly24= Single submitter hypercholesterolemia, familial, 4
- p.Gly254= Single submitter hypercholesterolemia, familial, 4
- p.Gly299Ser Single submitter Cardiovascular phenotype
- p.Gly45= Single submitter hypercholesterolemia, familial, 4
- p.Gly8= Single submitter hypercholesterolemia, familial, 4
- p.Ile116= Single submitter
- p.Ile97= Single submitter hypercholesterolemia, familial, 4
- p.Ile98= Single submitter hypercholesterolemia, familial, 4
- p.Leu107= Single submitter
- p.Leu147= Single submitter hypercholesterolemia, familial, 4
- p.Leu159= Single submitter hypercholesterolemia, familial, 4
- p.Leu212= Single submitter hypercholesterolemia, familial, 4
- p.Leu213= Single submitter hypercholesterolemia, familial, 4
- p.Leu223= Single submitter hypercholesterolemia, familial, 4
- p.Leu251= Single submitter hypercholesterolemia, familial, 4
- p.Leu255= Single submitter hypercholesterolemia, familial, 4
- p.Leu262= Single submitter hypercholesterolemia, familial, 4
- p.Leu272= Single submitter hypercholesterolemia, familial, 4
- p.Leu276= Single submitter hypercholesterolemia, familial, 4
- p.Leu287= Single submitter hypercholesterolemia, familial, 4
- p.Leu31= Single submitter hypercholesterolemia, familial, 4
- p.Leu66= Single submitter hypercholesterolemia, familial, 4
- p.Leu85= Single submitter Cardiovascular phenotype
- p.Leu90= Single submitter hypercholesterolemia, familial, 4
- p.Leu99= Single submitter hypercholesterolemia, familial, 4
- p.Lys150= Single submitter hypercholesterolemia, familial, 4
- p.Lys166= Single submitter hypercholesterolemia, familial, 4
- p.Lys179= Single submitter hypercholesterolemia, familial, 4
- p.Lys181= Single submitter hypercholesterolemia, familial, 4
- p.Lys294= Single submitter hypercholesterolemia, familial, 4
- p.Lys79= Single submitter hypercholesterolemia, familial, 4
- p.Lys87= Single submitter hypercholesterolemia, familial, 4
- p.Met281Ile Single submitter Cardiovascular phenotype
- p.Phe306= Single submitter hypercholesterolemia, familial, 4
- p.Pro237= Single submitter Cardiovascular phenotype
- p.Pro289= Single submitter hypercholesterolemia, familial, 4
- p.Pro295= Single submitter Cardiovascular phenotype
- p.Ser175= Single submitter hypercholesterolemia, familial, 4
- p.Ser186= Single submitter hypercholesterolemia, familial, 4
- p.Ser202= Single submitter hypercholesterolemia, familial, 4
- p.Ser202Ala Single submitter Cardiovascular phenotype
- p.Ser202Pro Single submitter hypercholesterolemia, familial, 4
- p.Ser21= Single submitter hypercholesterolemia, familial, 4
- p.Ser288= Single submitter hypercholesterolemia, familial, 4
- p.Ser297= Single submitter hypercholesterolemia, familial, 4
- p.Ser307= Single submitter hypercholesterolemia, familial, 4
- p.Ser6= Single submitter hypercholesterolemia, familial, 4
- p.Ser67Leu Single submitter
- p.Thr160= Single submitter hypercholesterolemia, familial, 4
- p.Thr200= Single submitter hypercholesterolemia, familial, 4
- p.Thr225= Single submitter hypercholesterolemia, familial, 4
- p.Thr230= Single submitter hypercholesterolemia, familial, 4
- p.Thr231= Single submitter hypercholesterolemia, familial, 4
- p.Thr274= Single submitter Cardiovascular phenotype
- p.Thr277Ile Single submitter Cardiovascular phenotype
- p.Thr300= Single submitter hypercholesterolemia, familial, 4
- p.Thr89= Single submitter hypercholesterolemia, familial, 4
- p.Tyr52= Single submitter hypercholesterolemia, familial, 4
- p.Val161= Single submitter hypercholesterolemia, familial, 4
- p.Val192= Single submitter hypercholesterolemia, familial, 4
- p.Val192Ile Single submitter Cardiovascular phenotype
- p.Val207= Single submitter hypercholesterolemia, familial, 4
- p.Val248= Single submitter hypercholesterolemia, familial, 4
- p.Val271= Single submitter hypercholesterolemia, familial, 4
- p.Val75= Single submitter Cardiovascular phenotype
- p.Val88= Single submitter hypercholesterolemia, familial, 4
- c.-29G>C No assertion criteria LDLRAP1-related disorder
Uncertain significance 233
- c.344+5G>A Multiple submitters Cardiovascular phenotype
- c.782+4A>G Multiple submitters hypercholesterolemia, familial, 4
- c.*1515C>T Multiple submitters hypercholesterolemia, familial, 4
- c.*430G>T Multiple submitters familial hypercholesterolemia
- c.*478C>T Multiple submitters hypercholesterolemia, familial, 4
- p.Ala133Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala156Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ala168Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala228Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala69Thr Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Ala70Thr Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Ala76Gly Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Arg151Gln Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Arg151Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg182Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg196Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg27Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Arg39Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg95Trp Multiple submitters ⚠
- p.Asn34Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Asp101Val Multiple submitters Cardiovascular phenotype ⚠
- p.Glu178Val Multiple submitters Cardiovascular phenotype ⚠
- p.Glu235Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu257Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Glu64Lys Multiple submitters hypercholesterolemia, familial, 4
- p.Gly23Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly24Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Ile113Met Multiple submitters Cardiovascular phenotype ⚠
- p.Ile113Val Multiple submitters Cardiovascular phenotype ⚠
- p.Ile132Val Multiple submitters Cardiovascular phenotype ⚠
- p.Leu85Val Multiple submitters familial hypercholesterolemia ⚠
- p.Lys166Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Met281Thr Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Pro201Arg Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Pro237Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Ser16Arg Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Ser205Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Ser49Gly Multiple submitters familial hypercholesterolemia ⚠
- p.Ser93Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Thr100Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Thr200Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Thr209Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr36Ile Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Thr38Met Multiple submitters Cardiovascular phenotype ⚠
- p.Thr41Lys Multiple submitters Cardiovascular phenotype ⚠
- p.Thr56Met Multiple submitters Cardiovascular phenotype
- p.Trp22Arg Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Trp22Leu Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Trp22Ser Multiple submitters Cardiovascular phenotype
- p.Trp35Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Val111Met Multiple submitters Cardiovascular phenotype ⚠
- p.Val161Ile Multiple submitters hypercholesterolemia, familial, 4 ⚠
- p.Val271Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Val75Met Multiple submitters hypercholesterolemia, familial, 4 ⚠
- c.231+3G>A Single submitter
- c.232-11_232-10delinsGAC Single submitter hypercholesterolemia, familial, 4
- c.232-11C>G Single submitter familial hypercholesterolemia
- c.459+6C>A Single submitter hypercholesterolemia, familial, 4
- c.459+6C>T Single submitter hypercholesterolemia, familial, 4
- c.616+3G>A Single submitter Cardiovascular phenotype
- c.616+5G>T Single submitter Cardiovascular phenotype
- c.88+15G>T Single submitter
- c.88+3480T>C Single submitter hypercholesterolemia, familial, 4
- c.88+5G>A Single submitter hypercholesterolemia, familial, 4
- c.-100G>A Single submitter hypercholesterolemia, familial, 4
- c.-105G>A Single submitter hypercholesterolemia, familial, 4
- c.-105G>T Single submitter hypercholesterolemia, familial, 4
- c.-10G>A Single submitter
- c.-20G>A Single submitter
- c.-26_-21dup Single submitter
- c.-2C>G Single submitter
- c.-37T>C Single submitter hypercholesterolemia, familial, 4
- c.-70A>T Single submitter hypercholesterolemia, familial, 4
- c.-75G>T Single submitter hypercholesterolemia, familial, 4
- c.*1032G>A Single submitter hypercholesterolemia, familial, 4
- c.*1040A>C Single submitter hypercholesterolemia, familial, 4
- c.*1201G>A Single submitter hypercholesterolemia, familial, 4
- c.*1233C>T Single submitter hypercholesterolemia, familial, 4
- c.*1284C>T Single submitter hypercholesterolemia, familial, 4
- c.*1375C>T Single submitter hypercholesterolemia, familial, 4
- c.*1395C>G Single submitter hypercholesterolemia, familial, 4
- c.*1430C>T Single submitter hypercholesterolemia, familial, 4
- c.*1477T>G Single submitter hypercholesterolemia, familial, 4
- c.*1556A>C Single submitter hypercholesterolemia, familial, 4
- c.*1677G>A Single submitter hypercholesterolemia, familial, 4
- c.*1682C>A Single submitter hypercholesterolemia, familial, 4
- c.*1737G>A Single submitter hypercholesterolemia, familial, 4
- c.*1824T>C Single submitter hypercholesterolemia, familial, 4
- c.*253G>A Single submitter hypercholesterolemia, familial, 4
- c.*259C>A Single submitter hypercholesterolemia, familial, 4
- c.*28G>A Single submitter hypercholesterolemia, familial, 4
- c.*331C>T Single submitter hypercholesterolemia, familial, 4
- c.*435A>G Single submitter hypercholesterolemia, familial, 4
- c.*535C>T Single submitter hypercholesterolemia, familial, 4
- c.*607G>T Single submitter hypercholesterolemia, familial, 4
- c.*614T>C Single submitter hypercholesterolemia, familial, 4
- c.*63G>T Single submitter hypercholesterolemia, familial, 4
- c.*6C>T Single submitter
- c.*717C>T Single submitter hypercholesterolemia, familial, 4
- c.*7G>A Single submitter
- c.*804G>A Single submitter hypercholesterolemia, familial, 4
- c.*810C>T Single submitter hypercholesterolemia, familial, 4
- c.*814G>A Single submitter hypercholesterolemia, familial, 4
- c.*821T>G Single submitter hypercholesterolemia, familial, 4
- c.*868C>G Single submitter hypercholesterolemia, familial, 4
- c.*877C>T Single submitter hypercholesterolemia, familial, 4
- c.*941G>T Single submitter hypercholesterolemia, familial, 4
- c.*961A>G Single submitter hypercholesterolemia, familial, 4
- p.Ala121Val Single submitter Cardiovascular phenotype ⚠
- p.Ala130Thr Single submitter ⚠
- p.Ala156Thr Single submitter ⚠
- p.Ala162Val Single submitter Cardiovascular phenotype ⚠
- p.Ala164Ser Single submitter
- p.Ala164Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala219Gly Single submitter Cardiovascular phenotype ⚠
- p.Ala3Val Single submitter Cardiovascular phenotype ⚠
- p.Ala68Val Single submitter Cardiovascular phenotype ⚠
- p.Ala7Glu Single submitter Cardiovascular phenotype ⚠
- p.Arg115Ser Single submitter Cardiovascular phenotype ⚠
- p.Arg196Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg196Pro Single submitter Cardiovascular phenotype ⚠
- p.Arg261Lys Single submitter ⚠
- p.Arg266Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg266Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg27Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg27Pro Single submitter Cardiovascular phenotype ⚠
- p.Arg39Pro Single submitter Cardiovascular phenotype ⚠
- p.Arg39Trp Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Arg73Gly Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Arg9Gln Single submitter Cardiovascular phenotype ⚠
- p.Asn102His Single submitter Cardiovascular phenotype ⚠
- p.Asn110Asp Single submitter Cardiovascular phenotype ⚠
- p.Asn110Lys Single submitter Cardiovascular phenotype ⚠
- p.Asp101His Single submitter familial hypercholesterolemia ⚠
- p.Asp234Glu Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Asp256Asn Single submitter Cardiovascular phenotype
- p.Asp256Glu Single submitter familial hypercholesterolemia ⚠
- p.Asp256Gly Single submitter Cardiovascular phenotype ⚠
- p.Asp280Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp291Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp291Tyr Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Asp293Tyr Single submitter Cardiovascular phenotype ⚠
- p.Cys143Tyr Single submitter ⚠
- p.Cys199Phe Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Cys286Phe Single submitter ⚠
- p.Gln136Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln155Glu Single submitter Cardiovascular phenotype ⚠
- p.Gln173Lys Single submitter Cardiovascular phenotype ⚠
- p.Gln20Pro Single submitter Cardiovascular phenotype ⚠
- p.Gln264Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln285Arg Single submitter familial hypercholesterolemia ⚠
- p.Gln285Ter Single submitter Cardiovascular phenotype
- p.Glu109Asp Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Glu177Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu180Gln Single submitter Cardiovascular phenotype ⚠
- p.Glu188Asp Single submitter Cardiovascular phenotype ⚠
- p.Glu188Gln Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Glu235Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu44Lys Single submitter ⚠
- p.Gly189Ala Single submitter Cardiovascular phenotype ⚠
- p.Gly189Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly23Trp Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Gly244Asp Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Gly24Cys Single submitter Cardiovascular phenotype ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly254Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly26Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly26Ser Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Gly82Arg Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Gly96Glu Single submitter ⚠
- p.His125Arg Single submitter Cardiovascular phenotype ⚠
- p.His125Leu Single submitter
- p.His144Arg Single submitter hypercholesterolemia, familial, 4 ⚠
- p.His282Asp Single submitter Cardiovascular phenotype ⚠
- p.His28Gln Single submitter Cardiovascular phenotype ⚠
- p.Ile108Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile116Leu Single submitter Cardiovascular phenotype ⚠
- p.Ile116Phe Single submitter Cardiovascular phenotype ⚠
- p.Ile71Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile97Val Single submitter Cardiovascular phenotype ⚠
- p.Leu159Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu17Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu215Val Single submitter Cardiovascular phenotype ⚠
- p.Leu53Gln Single submitter Cardiovascular phenotype ⚠
- p.Lys123Glu Single submitter familial hypercholesterolemia ⚠
- p.Lys152Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys166Glu Single submitter Cardiovascular phenotype ⚠
- p.Lys19Thr Single submitter Cardiovascular phenotype ⚠
- p.Lys294Glu Single submitter Cardiovascular phenotype ⚠
- p.Lys79Asn Single submitter Cardiovascular phenotype ⚠
- p.Lys79Glu Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Lys83Arg Single submitter Cardiovascular phenotype ⚠
- p.Met124Val Single submitter Cardiovascular phenotype ⚠
- p.Met153Thr Single submitter ⚠
- p.Met281Lys Single submitter ⚠
- p.Met46Ile Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Met46Thr Single submitter Cardiovascular phenotype ⚠
- p.Met55Val Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Phe129Leu Single submitter Cardiovascular phenotype ⚠
- p.Phe146Leu Single submitter ⚠
- p.Pro201_Ser202delinsAlaPro Single submitter
- p.Pro201_Ser202delinsArgPro Single submitter Cardiovascular phenotype
- p.Pro201Ala Single submitter ⚠
- p.Pro201Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro239Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro32Arg Single submitter Cardiovascular phenotype ⚠
- p.Pro94Gln Single submitter ⚠
- p.Ser135Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser186Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser202Arg Single submitter hypercholesterolemia, familial, 4
- p.Ser245Cys Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Ser245Gly Single submitter ⚠
- p.Ser246Thr Single submitter Cardiovascular phenotype ⚠
- p.Ser288Leu Single submitter Cardiovascular phenotype ⚠
- p.Thr225Arg Single submitter Cardiovascular phenotype ⚠
- p.Thr225Met Single submitter Cardiovascular phenotype ⚠
- p.Thr230Ala Single submitter Cardiovascular phenotype ⚠
- p.Trp22Cys Single submitter Cardiovascular phenotype ⚠
- p.Trp292Gly Single submitter hypercholesterolemia, familial, 4 ⚠
- p.Tyr131Cys Single submitter Cardiovascular phenotype ⚠
- p.Tyr283Ter Single submitter Cardiovascular phenotype
- p.Val207Phe Single submitter Cardiovascular phenotype ⚠
- p.Val248Gly Single submitter Cardiovascular phenotype ⚠
- c.616+5G>C No assertion criteria familial hypercholesterolemia
- c.616+7C>T No assertion criteria familial hypercholesterolemia
- c.748-10T>C No assertion criteria familial hypercholesterolemia
- c.89-3C>G No assertion criteria familial hypercholesterolemia
- c.-7G>A No assertion criteria familial hypercholesterolemia
- p.Asp296His No assertion criteria familial hypercholesterolemia ⚠
- p.Gly275Asp No assertion criteria familial hypercholesterolemia ⚠
- p.Leu57Ile No assertion criteria familial hypercholesterolemia ⚠
- p.Phe146Tyr No assertion criteria familial hypercholesterolemia
- p.Pro201= No assertion criteria familial hypercholesterolemia