Sugi Variant

Sugi Variant/PCSK9

PCSK9 — 1487 ClinVar variants

All ClinVar germline PCSK9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 702 flagged for review →

9 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 165 Conflicting · 30 Benign · 54 Benign/Likely benign · 466 Likely benign · 756 Uncertain significance

Full PCSK9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 702

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 10

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

Predictors agree, ClinVar conflicts 84

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 488

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 488

Predictors split 120

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

All PCSK9 variants

Pathogenic 9

  • p.Leu15fs Single submitter hypercholesterolemia, familial, 1
  • p.Ser127Arg Single submitter hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala471Ser No assertion criteria hypercholesterolemia, familial, 1 ⚠
  • p.Glu669Gln No assertion criteria hypercholesterolemia, familial, 1 ⚠
  • p.Leu108Pro No assertion criteria hypercholesterolemia, familial, 1 ⚠
  • p.Lys83Thr No assertion criteria hypercholesterolemia, familial, 1 ⚠
  • p.Phe216Leu No assertion criteria hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser47Cys No assertion criteria hypercholesterolemia, familial, 1 ⚠
  • p.Thr468Ala No assertion criteria hypercholesterolemia, familial, 1 ⚠

Pathogenic/Likely pathogenic 3

Likely pathogenic 4

  • c.399+1G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Arg218Thr Single submitter hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asn354Ile Single submitter hypercholesterolemia, familial, 1
  • p.Ser636Arg Single submitter hypercholesterolemia, autosomal dominant, 3 ⚠

Conflicting classifications of pathogenicity 165

Benign 30

  • c.1355-16C>G Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1355-56C>T Multiple submitters hypercholesterolemia, familial, 1
  • c.1503+67T>C Multiple submitters hypercholesterolemia, familial, 1
  • c.1504-16C>T Multiple submitters familial hypercholesterolemia
  • c.1681+63C>T Multiple submitters hypercholesterolemia, familial, 1
  • c.1681+64G>A Multiple submitters hypercholesterolemia, familial, 1
  • c.207+15A>G Multiple submitters familial hypercholesterolemia
  • c.657+114C>A Multiple submitters hypercholesterolemia, familial, 1
  • c.657+76C>A Multiple submitters hypercholesterolemia, familial, 1
  • c.657+7A>C Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.657+82G>A Multiple submitters hypercholesterolemia, familial, 1
  • c.658-7C>T Multiple submitters hypobetalipoproteinemia
  • c.799+20G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.799+3A>G Multiple submitters Cardiovascular phenotype
  • c.799+64C>A Multiple submitters hypercholesterolemia, familial, 1
  • c.-64C>T Multiple submitters hypobetalipoproteinemia
  • c.*571C>T Multiple submitters hypobetalipoproteinemia
  • c.*849T>C Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Val460= Multiple submitters Cardiovascular phenotype
  • c.207+209C>T Single submitter hypercholesterolemia, familial, 1
  • c.524-866T>C Single submitter
  • c.996+37_996+43del Single submitter
  • c.996+44A>T Single submitter
  • c.*345C>T Single submitter hypobetalipoproteinemia
  • c.*414C>T Single submitter hypobetalipoproteinemia
  • c.*444G>C Single submitter hypobetalipoproteinemia
  • c.*448dup Single submitter
  • c.*614C>T Single submitter hypobetalipoproteinemia
  • c.-168C>A No assertion criteria hypercholesterolemia, familial, 1
  • p.Glu84Lys No assertion criteria hypercholesterolemia, familial, 1

Benign/Likely benign 54

  • c.1503+20GT[16] Multiple submitters hypercholesterolemia, familial, 1
  • c.1503+20GT[17] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[18] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[19] Multiple submitters familial hypercholesterolemia
  • c.1503+20GT[20] Multiple submitters familial hypercholesterolemia
  • c.1503+20GT[21] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[24] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[25] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[27] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[28] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1504-5C>G Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1504-7C>T Multiple submitters familial hypercholesterolemia
  • c.1681+10T>C Multiple submitters familial hypercholesterolemia
  • c.1681+17G>A Multiple submitters familial hypercholesterolemia
  • c.1863+11C>G Multiple submitters familial hypercholesterolemia
  • c.1864-16C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.524-11G>A Multiple submitters hypobetalipoproteinemia
  • c.657+8C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.800-17G>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.996+8del Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.-26G>A Multiple submitters hypobetalipoproteinemia
  • c.-287G>A Multiple submitters hypobetalipoproteinemia
  • p.Ala442= Multiple submitters hypobetalipoproteinemia
  • p.Ala443Thr Multiple submitters hypercholesterolemia, familial, 1
  • p.Ala53Val Multiple submitters Cardiovascular phenotype
  • p.Ala617= Multiple submitters familial hypercholesterolemia
  • p.Ala671= Multiple submitters familial hypercholesterolemia
  • p.Arg46Leu Multiple submitters Cardiovascular phenotype
  • p.Asn340= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Asn425Ser Multiple submitters hypobetalipoproteinemia
  • p.Asp175= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Asp660= Multiple submitters familial hypercholesterolemia
  • p.Cys477= Multiple submitters Cardiovascular phenotype
  • p.Cys626= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Gln619Pro Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Glu92= Multiple submitters Cardiovascular phenotype
  • p.Gly128= Multiple submitters Cardiovascular phenotype
  • p.Gly497= Multiple submitters Cardiovascular phenotype
  • p.Gly670Glu Multiple submitters Cardiovascular phenotype
  • p.Ile143= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ile424Val Multiple submitters hypobetalipoproteinemia
  • p.Leu112= Multiple submitters Cardiovascular phenotype
  • p.Leu23dup Multiple submitters Cardiovascular phenotype
  • p.Leu253Phe Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro209= Multiple submitters Cardiovascular phenotype
  • p.Pro576Leu Multiple submitters Cardiovascular phenotype
  • p.Pro75= Multiple submitters Cardiovascular phenotype
  • p.Ser89= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ser89Trp Multiple submitters Cardiovascular phenotype
  • p.Thr313= Multiple submitters Cardiovascular phenotype
  • p.Thr623= Multiple submitters hypobetalipoproteinemia
  • p.Thr653= Multiple submitters Cardiovascular phenotype
  • p.Val474Ile Multiple submitters Cardiovascular phenotype
  • c.*265C>T Single submitter hypercholesterolemia, autosomal dominant, 3

Likely benign 466

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

  • c.1181-6C>T Multiple submitters familial hypercholesterolemia
  • c.1354+12G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1355-12C>T Multiple submitters familial hypercholesterolemia
  • c.1355-9T>A Multiple submitters familial hypercholesterolemia
  • c.1503+20GT[14] Multiple submitters hypercholesterolemia, familial, 1
  • c.1503+20GT[15] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[23] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[29] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[30] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[31] Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1504-15G>A Multiple submitters familial hypercholesterolemia
  • c.1682-16C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1682-20C>A Multiple submitters familial hypercholesterolemia
  • c.1682-4C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1682-5C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1863+12C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1863+13G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1863+20C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.208-10A>G Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.208-16C>A Multiple submitters hypercholesterolemia, familial, 1
  • c.399+10C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.400-10G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.400-13C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.400-15C>T Multiple submitters familial hypercholesterolemia
  • c.400-7T>C Multiple submitters familial hypercholesterolemia
  • c.523+9C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.524-12C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.524-13T>A Multiple submitters familial hypercholesterolemia
  • c.524-7T>C Multiple submitters familial hypercholesterolemia
  • c.524-9del Multiple submitters familial hypercholesterolemia
  • c.657+12C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.657+13G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.658-10C>G Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.658-10C>T Multiple submitters familial hypercholesterolemia
  • c.658-13G>A Multiple submitters familial hypercholesterolemia
  • c.799+19C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.997-17C>T Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.*234C>T Multiple submitters hypobetalipoproteinemia
  • p.Ala151= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala168= Multiple submitters familial hypercholesterolemia
  • p.Ala231= Multiple submitters familial hypercholesterolemia
  • p.Ala239= Multiple submitters Cardiovascular phenotype
  • p.Ala26= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala290= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala299= Multiple submitters familial hypercholesterolemia
  • p.Ala314= Multiple submitters Cardiovascular phenotype
  • p.Ala315= Multiple submitters Cardiovascular phenotype
  • p.Ala341= Multiple submitters familial hypercholesterolemia
  • p.Ala363= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala44= Multiple submitters familial hypercholesterolemia
  • p.Ala471= Multiple submitters familial hypercholesterolemia
  • p.Ala473= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala475Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala511= Multiple submitters Cardiovascular phenotype
  • p.Ala53= Multiple submitters familial hypercholesterolemia
  • p.Ala55= Multiple submitters Cardiovascular phenotype
  • p.Ala594= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala603= Multiple submitters Cardiovascular phenotype
  • p.Ala62= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ala676= Multiple submitters familial hypercholesterolemia
  • p.Ala685= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Arg105= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Arg194= Multiple submitters Cardiovascular phenotype
  • p.Arg215= Multiple submitters familial hypercholesterolemia
  • p.Arg295= Multiple submitters Cardiovascular phenotype
  • p.Arg357= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Arg46= Multiple submitters familial hypercholesterolemia
  • p.Arg469= Multiple submitters familial hypercholesterolemia
  • p.Arg476His Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Arg66= Multiple submitters familial hypercholesterolemia
  • p.Arg97His Multiple submitters Cardiovascular phenotype
  • p.Asn254= Multiple submitters Cardiovascular phenotype
  • p.Asn298= Multiple submitters familial hypercholesterolemia
  • p.Asn298Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Asn439fs Multiple submitters familial hypercholesterolemia
  • p.Asn513= Multiple submitters hypercholesterolemia, familial, 1
  • p.Asp129= Multiple submitters familial hypercholesterolemia
  • p.Asp212= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Asp212fs Multiple submitters familial hypercholesterolemia
  • p.Asp238= Multiple submitters Cardiovascular phenotype
  • p.Asp320= Multiple submitters Cardiovascular phenotype
  • p.Asp343= Multiple submitters familial hypercholesterolemia
  • p.Asp35= Multiple submitters familial hypercholesterolemia
  • p.Asp422= Multiple submitters Cardiovascular phenotype
  • p.Asp50= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Cys378= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Cys552= Multiple submitters Cardiovascular phenotype
  • p.Cys562= Multiple submitters familial hypercholesterolemia
  • p.Cys588= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Cys679= Multiple submitters Cardiovascular phenotype
  • p.Gln152= Multiple submitters Cardiovascular phenotype
  • p.Gln172= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Gln31fs Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Gln531= Multiple submitters Cardiovascular phenotype
  • p.Glu197= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Glu206= Multiple submitters familial hypercholesterolemia
  • p.Glu431= Multiple submitters Cardiovascular phenotype
  • p.Glu482= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Glu49= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Glu569= Multiple submitters Cardiovascular phenotype
  • p.Gly117= Multiple submitters familial hypercholesterolemia
  • p.Gly117Asp Multiple submitters familial hypercholesterolemia
  • p.Gly128Ser Multiple submitters familial hypercholesterolemia
  • p.Gly27= Multiple submitters familial hypercholesterolemia
  • p.Gly292= Multiple submitters familial hypercholesterolemia
  • p.Gly352= Multiple submitters Cardiovascular phenotype
  • p.Gly36= Multiple submitters Cardiovascular phenotype
  • p.Gly516= Multiple submitters Cardiovascular phenotype
  • p.Gly572= Multiple submitters Cardiovascular phenotype
  • p.Gly76= Multiple submitters familial hypercholesterolemia
  • p.His116= Multiple submitters Cardiovascular phenotype
  • p.His391= Multiple submitters Cardiovascular phenotype
  • p.His557= Multiple submitters Cardiovascular phenotype
  • p.His597= Multiple submitters Cardiovascular phenotype
  • p.His613= Multiple submitters Cardiovascular phenotype
  • p.Ile196= Multiple submitters Cardiovascular phenotype
  • p.Ile677= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu131= Multiple submitters Cardiovascular phenotype
  • p.Leu133= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu135= Multiple submitters familial hypercholesterolemia
  • p.Leu137= Multiple submitters familial hypercholesterolemia
  • p.Leu15= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu184= Multiple submitters familial hypercholesterolemia
  • p.Leu19= Multiple submitters Cardiovascular phenotype
  • p.Leu22= Multiple submitters familial hypercholesterolemia
  • p.Leu23_Gly24insLeuLeuLeu Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu23fs Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu348= Multiple submitters familial hypercholesterolemia
  • p.Leu440= Multiple submitters familial hypercholesterolemia
  • p.Leu45= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu528= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu579= Multiple submitters familial hypercholesterolemia
  • p.Leu638= Multiple submitters Cardiovascular phenotype
  • p.Leu82= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Lys222= Multiple submitters Cardiovascular phenotype
  • p.Lys506= Multiple submitters familial hypercholesterolemia
  • p.Lys609= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Phe150fs Multiple submitters familial hypercholesterolemia
  • p.Phe205= Multiple submitters Cardiovascular phenotype
  • p.Phe318= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Phe418= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Phe64= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Pro12= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Pro14= Multiple submitters Cardiovascular phenotype
  • p.Pro155= Multiple submitters familial hypercholesterolemia
  • p.Pro174= Multiple submitters familial hypercholesterolemia
  • p.Pro25= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Pro288= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Pro345= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Pro404= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Pro445= Multiple submitters familial hypercholesterolemia
  • p.Pro467= Multiple submitters familial hypercholesterolemia
  • p.Pro576= Multiple submitters familial hypercholesterolemia
  • p.Pro577= Multiple submitters Cardiovascular phenotype
  • p.Pro604= Multiple submitters familial hypercholesterolemia
  • p.Ser262= Multiple submitters Cardiovascular phenotype
  • p.Ser372= Multiple submitters Cardiovascular phenotype
  • p.Ser373= Multiple submitters familial hypercholesterolemia
  • p.Ser381= Multiple submitters familial hypercholesterolemia
  • p.Ser485= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ser488= Multiple submitters Cardiovascular phenotype
  • p.Ser535= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ser599= Multiple submitters Cardiovascular phenotype
  • p.Ser668= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ser9= Multiple submitters familial hypercholesterolemia
  • p.Thr109= Multiple submitters Cardiovascular phenotype
  • p.Thr162= Multiple submitters Cardiovascular phenotype
  • p.Thr187= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Thr264= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Thr3= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Thr468= Multiple submitters Cardiovascular phenotype
  • p.Thr60= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Thr631= Multiple submitters Cardiovascular phenotype
  • p.Thr633= Multiple submitters Cardiovascular phenotype
  • p.Trp453Ter Multiple submitters familial hypercholesterolemia
  • p.Tyr521= Multiple submitters Cardiovascular phenotype
  • p.Tyr78= Multiple submitters Cardiovascular phenotype
  • p.Val140= Multiple submitters Cardiovascular phenotype
  • p.Val149= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Val252fs Multiple submitters Cardiovascular phenotype
  • p.Val277= Multiple submitters familial hypercholesterolemia
  • p.Val280= Multiple submitters Cardiovascular phenotype
  • p.Val285= Multiple submitters familial hypercholesterolemia
  • p.Val312= Multiple submitters familial hypercholesterolemia
  • p.Val42= Multiple submitters familial hypercholesterolemia
  • p.Val474= Multiple submitters Cardiovascular phenotype
  • p.Val80= Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.1180+16A>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1180+19G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1180+7C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1180+8A>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1180+9C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1181-12C>A Single submitter familial hypercholesterolemia
  • c.1181-12C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1181-13A>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1181-7G>A Single submitter
  • c.1181-9delinsTT Single submitter familial hypercholesterolemia
  • c.1354+17G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1355-10C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1355-4G>T Single submitter familial hypercholesterolemia
  • c.1355-6T>C Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1503+13C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1503+16C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1503+19C>T Single submitter
  • c.1503+20GT[13] Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[22] Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1503+20GT[32] Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1503+7G>C Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1504-5C>T Single submitter familial hypercholesterolemia
  • c.1504-8A>C Single submitter familial hypercholesterolemia
  • c.1681+10T>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1681+18C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1681+19C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1681+7G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1682-48C>T Single submitter
  • c.1682-69G>T Single submitter
  • c.1682-6C>T Single submitter familial hypercholesterolemia
  • c.1863+10C>T Single submitter
  • c.1863+11C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1863+13G>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1863+19C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1864-12G>C Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1864-14T>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1864-5G>C Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.1864-5G>T Single submitter familial hypercholesterolemia
  • c.207+12G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.207+15A>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.207+6G>A Single submitter familial hypercholesterolemia
  • c.207+9G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.208-13T>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.208-1832G>A Single submitter
  • c.208-19C>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.208-5G>T Single submitter familial hypercholesterolemia
  • c.208-9T>C Single submitter familial hypercholesterolemia
  • c.399+10C>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.399+11C>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.399+11del Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.399+18G>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.400-10G>C Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.400-20G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.400-20G>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.400-4G>A Single submitter Cardiovascular phenotype
  • c.400-5T>C Single submitter familial hypercholesterolemia
  • c.523+13T>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.523+16G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.523+7C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.524-11_524-10delinsAT Single submitter familial hypercholesterolemia
  • c.524-14G>C Single submitter
  • c.524-18A>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.524-878T>C Single submitter
  • c.657+18A>G Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.657+20G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.658-6G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.658-8_658-7delinsCT Single submitter familial hypercholesterolemia
  • c.799+10G>C Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.799+11G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.799+12C>A Single submitter
  • c.799+15C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.800-12T>C Single submitter familial hypercholesterolemia
  • c.800-17G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.800-3C>T Single submitter familial hypercholesterolemia
  • c.800-4C>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.800-5C>T Single submitter familial hypercholesterolemia
  • c.800-7C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.997-12T>C Single submitter familial hypercholesterolemia
  • c.997-13_997-11del Single submitter familial hypercholesterolemia
  • c.997-14C>T Single submitter familial hypercholesterolemia
  • c.997-16C>T Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.997-17C>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • c.(?_-1 Single submitter
  • c.-85C>T Single submitter
  • c.-9C>T Single submitter familial hypercholesterolemia
  • c.*1151del Single submitter
  • c.*232C>T Single submitter hypobetalipoproteinemia
  • c.*843G>A Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala100= Single submitter Cardiovascular phenotype
  • p.Ala103= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala26fs Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala28= Single submitter familial hypercholesterolemia
  • p.Ala30= Single submitter familial hypercholesterolemia
  • p.Ala305= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala322= Single submitter Cardiovascular phenotype
  • p.Ala328= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala338= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala341fs Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala443fs Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala502Thr Single submitter familial hypercholesterolemia
  • p.Ala625= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala647= Single submitter Cardiovascular phenotype
  • p.Ala649= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Ala649fs Single submitter familial hypercholesterolemia
  • p.Ala95= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Arg167= Single submitter familial hypercholesterolemia
  • p.Arg218= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Arg272= Single submitter Cardiovascular phenotype
  • p.Arg319= Single submitter hypercholesterolemia, autosomal dominant, 3
  • p.Arg412= Single submitter familial hypercholesterolemia
  • p.Arg414= Single submitter Cardiovascular phenotype
  • p.Arg476= Single submitter familial hypercholesterolemia
  • p.Arg491fs Single submitter familial hypercholesterolemia

Uncertain significance 756

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

  • c.1863+1G>A Multiple submitters familial hypercholesterolemia
  • c.1864-12G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.207+5G>A Multiple submitters Cardiovascular phenotype
  • c.207+6G>C Multiple submitters familial hypercholesterolemia
  • c.208-6G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.208-7G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.399+1G>C Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.399+6C>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.400-2A>C Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.523+2dup Multiple submitters familial hypercholesterolemia
  • c.524-2del Multiple submitters Cardiovascular phenotype
  • c.524-3A>C Multiple submitters familial hypercholesterolemia
  • c.657+1G>T Multiple submitters familial hypercholesterolemia
  • c.658-2A>C Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.658-2A>G Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.658-6G>T Multiple submitters familial hypercholesterolemia
  • c.799+26C>T Multiple submitters hypercholesterolemia, familial, 1
  • c.799+5del Multiple submitters familial hypercholesterolemia
  • c.996+4G>A Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • c.996+51A>G Multiple submitters hypercholesterolemia, familial, 1
  • c.997-2A>T Multiple submitters familial hypercholesterolemia
  • c.-331C>A Multiple submitters hypercholesterolemia, familial, 1
  • c.*122C>T Multiple submitters hypobetalipoproteinemia
  • c.*28G>A Multiple submitters hypobetalipoproteinemia
  • p.Ala100Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala100Thr Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala134Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala151Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala168Gly Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala168Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala220Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala242Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala242Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala26Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala26Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala28Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala299Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala300Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala305Glu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala305Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala314Val Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala330Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala390Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala451Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala511Pro Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala514Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala522Thr Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala524Pro Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala53Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala544Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala594Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Ala603Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala617Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala617Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ala647Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala676Gly Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ala68Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg104His Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg105Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg160Gln Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg160Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg165Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg165Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg194Gln Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg194Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg218Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg237Gln Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg248Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg251Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg272Gln Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg272Trp Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg295Cys Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg295His Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg29His Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg303Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg319Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg319Trp Multiple submitters hypobetalipoproteinemia ⚠
  • p.Arg357His Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg414Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg434Gln Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg469Gln Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg46Cys Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg476Cys Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg491Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg495Gln Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg495Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg495Trp Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg499Leu Multiple submitters PCSK9-related disorder ⚠
  • p.Arg499Pro Multiple submitters Cardiovascular phenotype
  • p.Arg510Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg549Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg549Leu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg580Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg582Gln Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg659Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg659Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg659Trp Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg66Cys Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg66Gln Multiple submitters familial hypercholesterolemia
  • p.Arg66Pro Multiple submitters PCSK9-related disorder ⚠
  • p.Arg682Trp Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg73Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg8Trp Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg96His Multiple submitters familial hypercholesterolemia ⚠
  • p.Arg96Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Arg97Leu Multiple submitters familial hypercholesterolemia ⚠
  • p.Asn157Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Asn254Tyr Multiple submitters familial hypercholesterolemia ⚠
  • p.Asn425Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Asn586Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp146Asn Multiple submitters familial hypercholesterolemia
  • p.Asp175Tyr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp175Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp186Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp186His Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp204Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp224His Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp238Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp320Glu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp321Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp33Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Asp367Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp374Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Asp37Glu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp422Gly Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Asp422Val Multiple submitters familial hypercholesterolemia ⚠
  • p.Asp50Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Asp651Gly Multiple submitters Cardiovascular phenotype ⚠
  • p.Asp651Tyr Multiple submitters familial hypercholesterolemia ⚠
  • p.Asp660Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Cys358Tyr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Cys375Gly Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Cys378Trp Multiple submitters familial hypercholesterolemia ⚠
  • p.Cys457Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys477Tyr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Cys534Phe Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys626Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys626Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys654Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Cys67Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln219Glu Multiple submitters familial hypercholesterolemia ⚠
  • p.Gln302Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gln689Ter Multiple submitters familial hypercholesterolemia
  • p.Glu144Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu159Gly Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu197Lys Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Glu210Lys Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Glu332Gly Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Glu34Lys Multiple submitters hypobetalipoproteinemia ⚠
  • p.Glu366Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu39Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu405Gly Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu410Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu426Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu48Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu498Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu501= Multiple submitters PCSK9-related disorder
  • p.Glu501Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu543Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu54Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Glu612Gly Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Glu628Lys Multiple submitters Cardiovascular phenotype ⚠
  • p.Glu669Lys Multiple submitters hypobetalipoproteinemia ⚠
  • p.Glu690Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Glu85Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly106Val Multiple submitters familial hypercholesterolemia
  • p.Gly176Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly177Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly177Cys Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly198Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly198Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly213Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly236Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly240Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly244Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly24Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly27Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly291Asp Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly291Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly316Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly352Arg Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly36Asp Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly394Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly394Val Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly452Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly452Asp Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly466Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly504Glu Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly504Trp Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly517Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Gly517Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly519Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Gly51Cys Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly590Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly629Asp Multiple submitters familial hypercholesterolemia ⚠
  • p.Gly640Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.His139Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.His193Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.His464Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.His464Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.His565Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.His613Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.His643Asp Multiple submitters Cardiovascular phenotype ⚠
  • p.His683fs Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ile143Met Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Ile143Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ile161Thr Multiple submitters familial hypercholesterolemia ⚠
  • p.Ile196Met Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ile416Thr Multiple submitters Cardiovascular phenotype
  • p.Leu108Phe Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Leu112Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.Leu112Pro Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Leu118Phe Multiple submitters familial hypercholesterolemia ⚠
  • p.Leu119Pro Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Leu135Ser Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu21_Leu23del Multiple submitters familial hypercholesterolemia
  • p.Leu22Pro Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Leu283Pro Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu406Phe Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Leu41Gln Multiple submitters Cardiovascular phenotype ⚠
  • p.Leu483Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Leu52Pro Multiple submitters familial hypercholesterolemia ⚠
  • p.Leu579Met Multiple submitters familial hypercholesterolemia ⚠
  • p.Leu684Val Multiple submitters familial hypercholesterolemia ⚠
  • p.Leu691Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys125Asn Multiple submitters familial hypercholesterolemia
  • p.Lys258Glu Multiple submitters Cardiovascular phenotype ⚠
  • p.Lys494fs Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Lys609Gln Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Lys83Glu Multiple submitters familial hypercholesterolemia ⚠
  • p.Met126Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Met1Arg Multiple submitters familial hypercholesterolemia
  • p.Met398Val Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Met500Val Multiple submitters Cardiovascular phenotype ⚠
  • p.Phe122Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Phe270Ile Multiple submitters familial hypercholesterolemia ⚠
  • p.Phe318Tyr Multiple submitters Cardiovascular phenotype ⚠
  • p.Phe429Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro12Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro138Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro14Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro155Leu Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro173Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro209Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro279Leu Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro282Thr Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro288Leu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro331Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro364Arg Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro438Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro445Arg Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro445His Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro445Leu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro445Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro446Leu Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Pro479Leu Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro541Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro576Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro616Gln Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro616Leu Multiple submitters familial hypercholesterolemia ⚠
  • p.Pro639Ala Multiple submitters Cardiovascular phenotype ⚠
  • p.Pro639Arg Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser178Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser274Asn Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser294Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Ser326Phe Multiple submitters familial hypercholesterolemia ⚠
  • p.Ser373Ile Multiple submitters familial hypercholesterolemia ⚠
  • p.Ser376Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser383Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.Ser383Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Ser492Thr Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser564Ala Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser642Phe Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Ser668Arg Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser668Gly Multiple submitters hypobetalipoproteinemia ⚠
  • p.Ser668Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Ser91Ala Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr214Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr214Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr228Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Thr260Met Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr264Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr335Ile Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Thr377Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr377Ser Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr3Ile Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Thr437Asn Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr472Ile Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr548Asn Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr560Ile Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Thr623Ala Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr623Ser Multiple submitters hypercholesterolemia, autosomal dominant, 3 ⚠
  • p.Thr633Ala Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr653Lys Multiple submitters familial hypercholesterolemia ⚠
  • p.Thr653Met Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr77Ile Multiple submitters Cardiovascular phenotype ⚠
  • p.Thr94Pro Multiple submitters familial hypercholesterolemia ⚠
  • p.Trp156Ter Multiple submitters hypercholesterolemia, autosomal dominant, 3
  • p.Trp566Arg Multiple submitters familial hypercholesterolemia ⚠
  • p.Trp566Ser Multiple submitters hypobetalipoproteinemia ⚠