LDLR — 4067 ClinVar variants

All ClinVar germline LDLR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1138 flagged for review →

763 Pathogenic · 390 Pathogenic/Likely pathogenic · 553 Likely pathogenic · 322 Conflicting · 82 Benign · 45 Benign/Likely benign · 795 Likely benign · 1117 Uncertain significance

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

⚑ Evidence disagreements 1138

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 64

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

LDLR p.Ala399Thr Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala540Ser Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg406Gln Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg574His Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg595Gln Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg633His Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn825Asp Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp415Gly Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp472Tyr Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp700Asn Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly335Ser Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly396Ser Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly461Cys Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly844Asp Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.His583Arg Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.His583Tyr Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro181Arg Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro661Ala Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr147Ile Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr413Met Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr454Asn Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val639Asp Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val639Gly Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala627Thr Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Arg416Gln Pathogenic/Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 4
LDLR p.Arg416Leu Likely pathogenic Multiple submitters
familial hypercholesterolemia
LDLR p.Arg416Trp Pathogenic/Likely pathogenic Multiple submitters
homozygous familial hypercholesterolemia
LDLR p.Asn439Tyr Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Asn564Ser Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Glu229Val Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Glu418Lys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Glu714Lys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.His211Leu Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.His211Tyr Pathogenic/Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Leu401Val Pathogenic/Likely pathogenic Multiple submitters
Dyslipidemia
LDLR p.Leu568Val Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Lys294Glu Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Pro181Leu Pathogenic/Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Ser610Cys Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Val436Ala Pathogenic/Likely pathogenic Multiple submitters
LDLR-related disorder
LDLR p.Val797Leu Pathogenic/Likely pathogenic Multiple submitters
Dyslipidemia
LDLR p.Val797Met Pathogenic/Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Ala399Ser Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Ala480Ser Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Ala501Thr Likely pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ala521Ser Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Arg81Leu Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Asn548Ser Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Gln686Glu Likely pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Glu714Gln Likely pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Gly663Ala Pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.His211Arg Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Leu432Met Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Leu808Val Pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Lys393Gln Likely pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Phe126Tyr Likely pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Pro361Ser Pathogenic Single submitter
hypercholesterolemia, familial, 1
LDLR p.Thr389Ala Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Thr389Lys Likely pathogenic Single submitter
familial hypercholesterolemia
LDLR p.Arg88Lys Pathogenic No assertion criteria
hypercholesterolemia, familial, 1
LDLR p.Gln448Lys Pathogenic No assertion criteria
hypercholesterolemia, familial, 1
LDLR p.Gly149Arg Pathogenic No assertion criteria
hypercholesterolemia, familial, 1
LDLR p.Met412Leu Pathogenic No assertion criteria
hypercholesterolemia, familial, 1
LDLR p.Pro196Thr Pathogenic No assertion criteria
hypercholesterolemia, familial, 1

Predictors agree, ClinVar conflicts 170

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 170

LDLR p.Ala151Pro Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ala17Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ala19Val Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ala521Thr Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ala771Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ala771Val Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg124Trp Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Arg410Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg410Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg513Lys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg737Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg788Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn316Thr Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asn322Ile Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn322Lys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn370Lys Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asn428Thr Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asn564His Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn564Lys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn625Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn97Lys Conflicting Single submitter
Dyslipidemia
LDLR p.Asp100Glu Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp100Val Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asp118Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp129Ala Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp133Ala Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp133Asn Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp170Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp227His Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp25Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp307Ala Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asp307Asn Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asp342Glu Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp356Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp356His Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp36Glu Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp445Tyr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp492Tyr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp525Glu Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asp569Tyr Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp579Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp622Ala Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp622Gly Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp622His Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asp748Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asp774Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Cys116Tyr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys128Gly Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Cys134Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys167Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys216Phe Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Cys255Gly Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Cys261Arg Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys261Tyr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys270Arg Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Cys27Tyr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys296Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys296Tyr Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Cys313Trp Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Cys39Arg Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Cys52Tyr Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Cys63Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Cys681Ser Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Cys698Trp Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Gln125Lys Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Gln366Arg Conflicting Single submitter
LDLR-related disorder
LDLR p.Gln474Glu Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Glu179Lys Conflicting Single submitter
Dyslipidemia
LDLR p.Glu267Ala Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Glu267Lys Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Glu277Lys Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Glu337Asp Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Glu337Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Glu337Lys Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Glu615Lys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Glu716Lys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Glu781Asp Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Gly137Cys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Gly219Asp Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Gly314Arg Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Gly382Val Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Gly505Ala Conflicting Single submitter
LDLR-related disorder
LDLR p.Gly505Asp Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Gly516Ser Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Gly529Arg Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Gly529Asp Conflicting Single submitter
LDLR-related disorder
LDLR p.Gly549Ala Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Gly754Trp Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Gly758Ala Conflicting Single submitter
Cardiovascular phenotype
LDLR p.His485Arg Conflicting Single submitter
familial hypercholesterolemia
LDLR p.His485Gln Conflicting Single submitter
familial hypercholesterolemia
LDLR p.His656Tyr Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.His769Gln Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ile210Asn Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ile249Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ile473Val Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ile560Phe Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ile628Thr Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Leu205Val Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Leu339Pro Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Leu401His Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Leu422Pro Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Leu575Phe Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Leu575Pro Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Leu682Pro Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Lys393Asn Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Lys504Glu Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Met531Arg Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Met531Thr Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Met767Ile Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Phe200Ile Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Phe202Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Phe241Ser Conflicting Single submitter
LDLR-related disorder
LDLR p.Phe32Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Phe403Leu Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Phe629Val Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Phe73Cys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Pro105Ser Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Pro162Leu Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Pro309His Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Pro476Leu Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Pro563His Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Pro608Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Pro795His Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Pro826Thr Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ser123Pro Conflicting Single submitter
Dyslipidemia
LDLR p.Ser130Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser157Asn Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser177Trp Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ser195Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ser213Thr Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser226Phe Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ser265Cys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser444Pro Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser447Cys Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ser470Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser56Phe Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Ser610Phe Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Thr413Arg Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Thr467Ile Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Thr491Asn Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Thr497Pro Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Thr534Asn Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Thr538Ser Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Thr621Ile Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Thr635Ile Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Thr724Ile Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Trp536Cys Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Trp562Cys Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Trp577Cys Conflicting Single submitter
LDLR-related disorder

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

LDLR c.1358+2T>C Conflicting Single submitter
Cardiovascular phenotype
LDLR c.313+1G>C Conflicting Single submitter
homozygous familial hypercholesterolemia
LDLR p.Gln851fs Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 610

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 610

LDLR p.Ala299Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala299Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala50Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala50Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala606Asp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala606Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala643Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala643Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala684Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala684Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala684Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala705Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala717Gly Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala717Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg237Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg253Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg253Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg257Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg257Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg257Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg300Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg303Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg350Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg471Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg574Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg574Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg709Gly Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg751Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg78Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg81His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn297His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn297Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn297Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn425Asp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn80Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn80Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp170Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp304His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp304Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp342Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp360Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp360His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp386Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp415Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp472Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp477Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp47His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp47Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp482Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp502Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp57Ala Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp57Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp589Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp651Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp700Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp707Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Cys160Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Cys302Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Cys63Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Cys63Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gln102Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gln92Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu28Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu317Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu353Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu357Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu357Gly Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu408Ala Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu408Asp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu408Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu716Ala Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly20Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly246Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly2Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly323Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly324Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly335Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly335Asp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly335Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly396Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly396Asp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly396Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly461Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly478Trp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly636Asp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly636Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly636Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly71Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly76Trp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly98Ala Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly98Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His285Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His285Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His285Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His327Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His656Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His656Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile441Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile488Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile598Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile598Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile598Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile623Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile764Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile83Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu15His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu16Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu16Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu414Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu456His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu456Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu479Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu479Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu547Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu599Trp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu654Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu680Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Lys311Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Lys518Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Lys518Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Lys816Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Met652Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Met652Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Phe282Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Phe282Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Phe530Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Phe530Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Phe609Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro519Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro519Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro526Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro526His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro526Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro526Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro526Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro649Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro649Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro699Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro84Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro84Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser244Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser326Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser397Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser397Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser486Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser486Gly Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser580Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser580Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser587Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser648Ala Uncertain significance Expert panel
hypercholesterolemia, familial, 1

Predictors split 291

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 291

LDLR p.Ala399Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala606Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala697Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala705Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg115Cys Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg115His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg237His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg253Trp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg303Trp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg709Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg78His Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg814Gln Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg814Trp Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Arg81Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn425Ile Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn428Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn428Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asn487Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp362Ala Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp386Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp415His Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp477Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp47Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp651Asn Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp707Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Asp90Asn Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Glu31Lys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly246Glu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly269Asp Likely benign Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly269Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly287Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly324Ser Benign Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly701Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly76Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly844Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly98Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Gly98Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His327Tyr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.His583Asp Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.His583Gln Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile441Met Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile623Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile792Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ile792Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu164Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu385Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu385Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu385Val Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu456Pro Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Leu654Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Lys311Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro661Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Pro661Thr Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser397Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser499Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser554Leu Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ser648Pro Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr404Ile Likely pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr404Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr434Arg Pathogenic Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr510Met Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr62Met Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Thr659Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Trp305Ser Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Trp87Arg Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Tyr465Asn Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Tyr465Cys Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val506Met Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val653Gly Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val653Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val827Ile Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Val827Phe Uncertain significance Expert panel
hypercholesterolemia, familial, 1
LDLR p.Ala501Val Pathogenic/Likely pathogenic Multiple submitters
familial hypercholesterolemia
LDLR p.Ala612Val Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Arg185Trp Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Arg300Thr Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Asn230Ile Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Asn405Lys Pathogenic/Likely pathogenic Multiple submitters
familial hypercholesterolemia
LDLR p.Asn632Ser Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Asp168Asn Pathogenic/Likely pathogenic Multiple submitters
homozygous familial hypercholesterolemia
LDLR p.Asp172Glu Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Cys377Tyr Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Gln851Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Glu208Lys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Glu312Gly Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Glu418Gly Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Glu435Lys Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Glu833Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Gly251Asp Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Gly37Arg Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Gly382Asp Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Gly48Asp Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Gly663Arg Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Gly663Glu Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.His837Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Ile522Val Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Ile628Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Leu346Pro Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Leu495Val Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Leu582Val Uncertain significance Multiple submitters
Dyslipidemia
LDLR p.Lys376Met Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Lys544Thr Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Met412Thr Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
LDLR p.Met708Thr Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Phe126Ser Pathogenic/Likely pathogenic Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Pro144Arg Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Pro144Leu Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Pro150His Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Pro279Ser Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Pro387Leu Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Pro683Leu Uncertain significance Multiple submitters
Dyslipidemia
LDLR p.Pro848Ser Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Ser630Gly Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Ser630Thr Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Thr108Met Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
LDLR p.Thr497Ala Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Thr557Ile Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Thr557Pro Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Thr567Ala Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Thr597Asn Uncertain significance Multiple submitters
LDLR p.Thr67Ile Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Tyr419His Pathogenic/Likely pathogenic Multiple submitters
familial hypercholesterolemia
LDLR p.Tyr42Cys Uncertain significance Multiple submitters
familial hypercholesterolemia
LDLR p.Val578Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
LDLR p.Ala18Glu Uncertain significance Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ala394Ser Uncertain significance Single submitter
familial hypercholesterolemia
LDLR p.Ala394Val Uncertain significance Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ala431Gly Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ala459Gly Likely benign Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ala475Val Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ala501Gly Uncertain significance Single submitter
hypercholesterolemia, familial, 1
LDLR p.Ala612Ser Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Ala627Gly Uncertain significance Single submitter
familial hypercholesterolemia
LDLR p.Ala860Val Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg132Gly Uncertain significance Single submitter
familial hypercholesterolemia
LDLR p.Arg215His Conflicting Single submitter
hypercholesterolemia, familial, 1
LDLR p.Arg257Trp Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Arg350Gly Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg440Ile Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Arg508Lys Uncertain significance Single submitter
familial hypercholesterolemia
LDLR p.Arg508Trp Uncertain significance Single submitter
LDLR p.Arg850Lys Uncertain significance Single submitter
hypercholesterolemia, familial, 1
LDLR p.Arg88Trp Uncertain significance Single submitter
LDLR p.Asn316Lys Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn316Ser Conflicting Single submitter
Cardiovascular phenotype
LDLR p.Asn405Ile Uncertain significance Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asn405Ser Conflicting Single submitter
familial hypercholesterolemia
LDLR p.Asn405Thr Uncertain significance Single submitter
hypercholesterolemia, familial, 1
LDLR p.Asn674His Uncertain significance Single submitter
LDLR p.Asn822Ser Uncertain significance Single submitter
hypercholesterolemia, familial, 1

All LDLR variants

Pathogenic 763

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

c.1359-1G>A Expert panel hypercholesterolemia, familial, 1
c.2140+1G>A Expert panel hypercholesterolemia, familial, 1
c.2389+2T>G Expert panel hypercholesterolemia, familial, 1
c.313+1G>A Expert panel hypercholesterolemia, familial, 1
c.313+2T>C Expert panel hypercholesterolemia, familial, 1
c.818-2A>G Expert panel hypercholesterolemia, familial, 1
p.Ala431Thr Expert panel hypercholesterolemia, familial, 1
p.Ala540Thr Expert panel hypercholesterolemia, familial, 1
p.Arg350Ter Expert panel hypercholesterolemia, familial, 1
p.Arg406Trp Expert panel hypercholesterolemia, familial, 1
p.Arg595Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg595Trp Expert panel hypercholesterolemia, familial, 1
p.Arg633Cys Expert panel hypercholesterolemia, familial, 1
p.Arg633His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp221Gly Expert panel hypercholesterolemia, familial, 1
p.Asp221Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp227Glu Expert panel hypercholesterolemia, familial, 1
p.Asp266Asn Expert panel hypercholesterolemia, familial, 1
p.Asp266Glu Expert panel hypercholesterolemia, familial, 1
p.Asp266Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp304Asn Expert panel hypercholesterolemia, familial, 1
p.Asp472Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp482Asn Expert panel hypercholesterolemia, familial, 1
p.Asp492Asn Expert panel hypercholesterolemia, familial, 1
p.Asp90Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp90Glu Expert panel hypercholesterolemia, familial, 1
p.Asp90Gly Expert panel hypercholesterolemia, familial, 1
p.Cys184Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys276Ter Expert panel hypercholesterolemia, familial, 1
p.Cys27Trp Expert panel hypercholesterolemia, familial, 1
p.Cys392Ter Expert panel hypercholesterolemia, familial, 1
p.Cys681Trp Expert panel hypercholesterolemia, familial, 1
p.Gln254Ter Expert panel hypercholesterolemia, familial, 1
p.Gln33Ter Expert panel hypercholesterolemia, familial, 1
p.Gln349Ter Expert panel hypercholesterolemia, familial, 1
p.Gln739Ter Expert panel hypercholesterolemia, familial, 1
p.Glu101Lys Expert panel hypercholesterolemia, familial, 1
p.Glu113Lys Expert panel hypercholesterolemia, familial, 1
p.Glu140Lys Expert panel hypercholesterolemia, familial, 1
p.Glu228Lys Expert panel hypercholesterolemia, familial, 1
p.Glu240Lys Expert panel hypercholesterolemia, familial, 1
p.Glu240Ter Expert panel hypercholesterolemia, familial, 1
p.Glu288Lys Expert panel hypercholesterolemia, familial, 1
p.Gly219del Expert panel hypercholesterolemia, familial, 1
p.Gly287Cys Expert panel hypercholesterolemia, familial, 1
p.Gly343Cys Expert panel hypercholesterolemia, familial, 1
p.Gly343Ser Expert panel hypercholesterolemia, familial, 1
p.Gly478Arg Expert panel hypercholesterolemia, familial, 1
p.Gly592Glu Expert panel hypercholesterolemia, familial, 1
p.His583Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile441Thr Expert panel hypercholesterolemia, familial, 1
p.Met1Leu Expert panel hypercholesterolemia, familial, 1
p.Ser177Leu Expert panel hypercholesterolemia, familial, 1
p.Ser326Cys Expert panel hypercholesterolemia, familial, 1
p.Ser99Ter Expert panel hypercholesterolemia, familial, 1
p.Thr434Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp214Ter Expert panel hypercholesterolemia, familial, 1
p.Trp443Cys Expert panel hypercholesterolemia, familial, 1
p.Trp533Ter Expert panel hypercholesterolemia, familial, 1
p.Trp577Gly Expert panel hypercholesterolemia, familial, 1
p.Trp87Gly Expert panel hypercholesterolemia, familial, 1
p.Val429Leu Expert panel hypercholesterolemia, familial, 1
p.Val429Met Expert panel hypercholesterolemia, familial, 1
p.Val523Met Expert panel hypercholesterolemia, familial, 1
p.Val639Asp Expert panel hypercholesterolemia, familial, 1 ⚠
c.1060+1G>A Multiple submitters hypercholesterolemia, familial, 1
c.1061-1G>T Multiple submitters hypercholesterolemia, familial, 1
c.1186+1G>T Multiple submitters Cardiovascular phenotype
c.1186+700_2141-545del Multiple submitters hypercholesterolemia, familial, 1
c.1187-?_1586+?del Multiple submitters hypercholesterolemia, familial, 1
c.1187-169_2312-790del Multiple submitters hypercholesterolemia, familial, 1
c.1187del Multiple submitters familial hypercholesterolemia
c.1587-?_1845+?del Multiple submitters hypercholesterolemia, familial, 1
c.1705+1del Multiple submitters hypercholesterolemia, familial, 1
c.1706-1G>C Multiple submitters hypercholesterolemia, familial, 1
c.1845+1G>C Multiple submitters familial hypercholesterolemia
c.1846-?_2311+?del Multiple submitters hypercholesterolemia, familial, 1
c.190+984_1846-1160del Multiple submitters hypercholesterolemia, familial, 1
c.1987+2T>A Multiple submitters familial hypercholesterolemia
c.1988-1G>A Multiple submitters familial hypercholesterolemia
c.2312-?_2389+?del Multiple submitters hypercholesterolemia, familial, 1
c.2312-2A>G Multiple submitters familial hypercholesterolemia
c.2312-?_*2514del Multiple submitters hypercholesterolemia, familial, 1
c.2390-1G>A Multiple submitters familial hypercholesterolemia
c.2390-2A>G Multiple submitters Cardiovascular phenotype
c.68-1G>C Multiple submitters familial hypercholesterolemia
c.693_694+20del Multiple submitters hypercholesterolemia, familial, 1
c.694+1G>C Multiple submitters familial hypercholesterolemia
c.695-1G>C Multiple submitters Cardiovascular phenotype
c.695-67_1586+371del Multiple submitters hypercholesterolemia, familial, 1
c.940_940+14del Multiple submitters LDLR-related disorder
c.-1823_190+566del Multiple submitters hypercholesterolemia, familial, 1
p.? Multiple submitters hypercholesterolemia, familial, 1
p.Ala13fs Multiple submitters hypercholesterolemia, familial, 1
p.Ala151fs Multiple submitters hypercholesterolemia, familial, 1
p.Ala299fs Multiple submitters hypercholesterolemia, familial, 1
p.Ala391fs Multiple submitters familial hypercholesterolemia
p.Ala437delinsValAlaLeuAspThrTer Multiple submitters Cardiovascular phenotype
p.Ala459fs Multiple submitters familial hypercholesterolemia
p.Ala475fs Multiple submitters hypercholesterolemia, familial, 1
p.Ala480Val Multiple submitters familial hypercholesterolemia
p.Ala606fs Multiple submitters hypercholesterolemia, familial, 1
p.Ala697fs Multiple submitters hypercholesterolemia, familial, 1
p.Ala755fs Multiple submitters familial hypercholesterolemia
p.Arg124fs Multiple submitters familial hypercholesterolemia
p.Arg350fs Multiple submitters Cardiovascular phenotype
p.Arg458fs Multiple submitters hypercholesterolemia, familial, 1
p.Arg595fs Multiple submitters Cardiovascular phenotype
p.Arg728fs Multiple submitters hypercholesterolemia, familial, 1
p.Arg744Ter Multiple submitters hypercholesterolemia, familial, 1
p.Arg778fs Multiple submitters hypercholesterolemia, familial, 1
p.Asn321fs Multiple submitters familial hypercholesterolemia
p.Asn322fs Multiple submitters Cardiovascular phenotype
p.Asn564fs Multiple submitters familial hypercholesterolemia
p.Asn645fs Multiple submitters Cardiovascular phenotype
p.Asn80fs Multiple submitters hypercholesterolemia, familial, 1
p.Asp118fs Multiple submitters Dyslipidemia
p.Asp172fs Multiple submitters Cardiovascular phenotype
p.Asp178fs Multiple submitters familial hypercholesterolemia
p.Asp221_Cys222insTer Multiple submitters hypercholesterolemia, familial, 1
p.Asp293fs Multiple submitters hypercholesterolemia, familial, 1
p.Asp307fs Multiple submitters hypercholesterolemia, familial, 1
p.Asp356fs Multiple submitters Cardiovascular phenotype
p.Asp362fs Multiple submitters hypercholesterolemia, familial, 1
p.Asp36fs Multiple submitters hypercholesterolemia, familial, 1
p.Asp415fs Multiple submitters Cardiovascular phenotype
p.Asp477fs Multiple submitters homozygous familial hypercholesterolemia
p.Asp651fs Multiple submitters hypercholesterolemia, familial, 1
p.Asp72fs Multiple submitters homozygous familial hypercholesterolemia
p.Cys104fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys109Ter Multiple submitters familial hypercholesterolemia
p.Cys143Ter Multiple submitters familial hypercholesterolemia
p.Cys155Ter Multiple submitters familial hypercholesterolemia
p.Cys173fs Multiple submitters Cardiovascular phenotype
p.Cys197Ter Multiple submitters familial hypercholesterolemia
p.Cys204fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys216_Asp217delinsTer Multiple submitters familial hypercholesterolemia
p.Cys216fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys222_Asp227delinsTer Multiple submitters hypercholesterolemia, familial, 1
p.Cys222Ter Multiple submitters familial hypercholesterolemia
p.Cys236fs Multiple submitters Cardiovascular phenotype
p.Cys261fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys270Ter Multiple submitters familial hypercholesterolemia
p.Cys276fs Multiple submitters Cardiovascular phenotype
p.Cys296Ter Multiple submitters LDLR-related disorder
p.Cys313Ter Multiple submitters Cardiovascular phenotype
p.Cys340fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys340Ter Multiple submitters familial hypercholesterolemia
p.Cys34Ter Multiple submitters hypercholesterolemia, familial, 1
p.Cys358fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys368Ter Multiple submitters Cardiovascular phenotype
p.Cys377fs Multiple submitters familial hypercholesterolemia
p.Cys379Ter Multiple submitters Cardiovascular phenotype
p.Cys667Ter Multiple submitters Cardiovascular phenotype
p.Cys677fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys677Ter Multiple submitters Cardiovascular phenotype
p.Cys82Ter Multiple submitters familial hypercholesterolemia
p.Cys95Ter Multiple submitters familial hypercholesterolemia
p.Gln102Ter Multiple submitters Dyslipidemia
p.Gln125delinsHisTer Multiple submitters hypercholesterolemia, familial, 1
p.Gln125Ter Multiple submitters homozygous familial hypercholesterolemia
p.Gln182Ter Multiple submitters familial hypercholesterolemia
p.Gln191Ter Multiple submitters Cardiovascular phenotype
p.Gln242Ter Multiple submitters LDLR-related disorder
p.Gln254_Cys255delinsHisGly Multiple submitters familial hypercholesterolemia
p.Gln345Ter Multiple submitters Cardiovascular phenotype
p.Gln359Ter Multiple submitters Cardiovascular phenotype
p.Gln35Ter Multiple submitters familial hypercholesterolemia
p.Gln366Ter Multiple submitters LDLR-related disorder
p.Gln378Ter Multiple submitters homozygous familial hypercholesterolemia
p.Gln384Ter Multiple submitters Cardiovascular phenotype
p.Gln448fs Multiple submitters hypercholesterolemia, familial, 1
p.Gln448Ter Multiple submitters familial hypercholesterolemia
p.Gln455fs Multiple submitters hypercholesterolemia, familial, 1
p.Gln455Ter Multiple submitters familial hypercholesterolemia
p.Gln474Ter Multiple submitters LDLR-related disorder
p.Gln53Ter Multiple submitters familial hypercholesterolemia
p.Gln561Ter Multiple submitters LDLR-related disorder
p.Gln678Ter Multiple submitters hypercholesterolemia, familial, 1
p.Gln686Ter Multiple submitters Cardiovascular phenotype
p.Gln722Ter Multiple submitters familial hypercholesterolemia
p.Gln85Ter Multiple submitters Cardiovascular phenotype
p.Glu101Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu113fs Multiple submitters hypercholesterolemia, familial, 1
p.Glu140Ter Multiple submitters familial hypercholesterolemia
p.Glu179Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu228delinsIleTer Multiple submitters hypercholesterolemia, familial, 1
p.Glu228fs Multiple submitters hypercholesterolemia, familial, 1
p.Glu228Ter Multiple submitters Cardiovascular phenotype
p.Glu258Ter Multiple submitters familial hypercholesterolemia
p.Glu277Ter Multiple submitters homozygous familial hypercholesterolemia
p.Glu288Ter Multiple submitters familial hypercholesterolemia
p.Glu308Ter Multiple submitters familial hypercholesterolemia
p.Glu312fs Multiple submitters Cardiovascular phenotype
p.Glu312Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu317fs Multiple submitters familial hypercholesterolemia
p.Glu317Ter Multiple submitters Cardiovascular phenotype
p.Glu31Ter Multiple submitters Cardiovascular phenotype
p.Glu353Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu357fs Multiple submitters familial hypercholesterolemia
p.Glu418Ter Multiple submitters Cardiovascular phenotype
p.Glu514Ter Multiple submitters Cardiovascular phenotype
p.Glu558Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu600Ter Multiple submitters familial hypercholesterolemia
p.Glu723fs Multiple submitters Cardiovascular phenotype
p.Gly186fs Multiple submitters Cardiovascular phenotype
p.Gly246fs Multiple submitters familial hypercholesterolemia
p.Gly324fs Multiple submitters hypercholesterolemia, familial, 1
p.Gly335_Tyr336insTer Multiple submitters familial hypercholesterolemia
p.Gly496fs Multiple submitters familial hypercholesterolemia
p.Gly537fs Multiple submitters familial hypercholesterolemia
p.Gly537Ter Multiple submitters hypercholesterolemia, familial, 1
p.Gly546fs Multiple submitters hypercholesterolemia, familial, 1
p.Gly573fs Multiple submitters hypercholesterolemia, familial, 1
p.Gly593fs Multiple submitters hypercholesterolemia, familial, 1
p.Gly675fs Multiple submitters hypercholesterolemia, familial, 1
p.Gly676fs Multiple submitters hypercholesterolemia, familial, 1
p.His327fs Multiple submitters hypercholesterolemia, familial, 1
p.His460fs Multiple submitters hypercholesterolemia, familial, 1
p.His656fs Multiple submitters hypercholesterolemia, familial, 1
p.His690fs Multiple submitters Cardiovascular phenotype
p.His837fs Multiple submitters hypercholesterolemia, familial, 1
p.Ile161fs Multiple submitters hypercholesterolemia, familial, 1
p.Ile210fs Multiple submitters hypercholesterolemia, familial, 1
p.Ile355fs Multiple submitters hypercholesterolemia, familial, 1
p.Ile40fs Multiple submitters homozygous familial hypercholesterolemia
p.Ile585fs Multiple submitters familial hypercholesterolemia
p.Ile623fs Multiple submitters familial hypercholesterolemia
p.Ile764fs Multiple submitters familial hypercholesterolemia
p.Ile83fs Multiple submitters Cardiovascular phenotype
p.Leu14Ter Multiple submitters Cardiovascular phenotype
p.Leu292fs Multiple submitters hypercholesterolemia, familial, 1
p.Leu346fs Multiple submitters hypercholesterolemia, familial, 1
p.Leu367fs Multiple submitters hypercholesterolemia, familial, 1
p.Leu446fs Multiple submitters hypercholesterolemia, familial, 1
p.Leu456fs Multiple submitters hypercholesterolemia, familial, 1
p.Leu479fs Multiple submitters familial hypercholesterolemia
p.Leu547fs Multiple submitters hypercholesterolemia, familial, 1
p.Leu64Ter Multiple submitters familial hypercholesterolemia
p.Leu729fs Multiple submitters Cardiovascular phenotype
p.Leu759fs Multiple submitters Cardiovascular phenotype
p.Lys225_Glu228delinsCysLys Multiple submitters familial hypercholesterolemia
p.Lys311fs Multiple submitters familial hypercholesterolemia
p.Lys38_Cys39insTer Multiple submitters hypercholesterolemia, familial, 1
p.Lys390Ter Multiple submitters familial hypercholesterolemia
p.Lys393fs Multiple submitters hypercholesterolemia, familial, 1
p.Lys504Ter Multiple submitters hypercholesterolemia, familial, 1
p.Lys693fs Multiple submitters familial hypercholesterolemia
p.Lys730fs Multiple submitters familial hypercholesterolemia
p.Lys811Ter Multiple submitters Cardiovascular phenotype
p.Lys816Ter Multiple submitters Dyslipidemia
p.Phe114fs Multiple submitters hypercholesterolemia, familial, 1
p.Phe126fs Multiple submitters Cardiovascular phenotype
p.Phe190fs Multiple submitters familial hypercholesterolemia
p.Phe344fs Multiple submitters hypercholesterolemia, familial, 1
p.Phe512fs Multiple submitters hypercholesterolemia, familial, 1
p.Phe629fs Multiple submitters Dyslipidemia
p.Phe807fs Multiple submitters hypercholesterolemia, familial, 1
p.Pro220_Asp221insTer Multiple submitters familial hypercholesterolemia
p.Pro309fs Multiple submitters LDLR-related disorder
p.Pro649fs Multiple submitters familial hypercholesterolemia
p.Pro685fs Multiple submitters hypercholesterolemia, familial, 1
p.Pro699fs Multiple submitters familial hypercholesterolemia
p.Pro757fs Multiple submitters Cardiovascular phenotype
p.Ser142fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser158fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser194fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser198Ter Multiple submitters hypercholesterolemia, familial, 1
p.Ser206fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser252fs Multiple submitters familial hypercholesterolemia
p.Ser453fs Multiple submitters Cardiovascular phenotype
p.Ser517fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser572fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser580fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser584fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser586fs Multiple submitters hypercholesterolemia, familial, 1
p.Ser691Ter Multiple submitters Cardiovascular phenotype
p.Thr454fs Multiple submitters Cardiovascular phenotype
p.Thr510fs Multiple submitters hypercholesterolemia, familial, 1
p.Thr557delinsSerTrpTer Multiple submitters hypercholesterolemia, familial, 1
p.Thr756fs Multiple submitters hypercholesterolemia, familial, 1
p.Trp10Ter Multiple submitters homozygous familial hypercholesterolemia
p.Trp305Ter Multiple submitters familial hypercholesterolemia
p.Trp443Ter Multiple submitters hypercholesterolemia, familial, 1
p.Trp483Ter Multiple submitters Cardiovascular phenotype
p.Trp490Ter Multiple submitters familial hypercholesterolemia
p.Trp4fs Multiple submitters Cardiovascular phenotype
p.Trp4Ter Multiple submitters LDLR-related disorder
p.Trp536Ter Multiple submitters hypercholesterolemia, familial, 1
p.Trp562Ter Multiple submitters familial hypercholesterolemia
p.Trp577Arg Multiple submitters familial hypercholesterolemia
p.Trp577Ter Multiple submitters familial hypercholesterolemia
p.Trp620Ter Multiple submitters familial hypercholesterolemia
p.Trp666Ter Multiple submitters familial hypercholesterolemia
p.Trp6Ter Multiple submitters Cardiovascular phenotype
p.Trp810Ter Multiple submitters Cardiovascular phenotype
p.Trp87_Arg88delinsTer Multiple submitters Cardiovascular phenotype
p.Trp87Ter Multiple submitters LDLR-related disorder
p.Tyr188Ter Multiple submitters Cardiovascular phenotype
p.Tyr336Ter Multiple submitters Dyslipidemia

Pathogenic/Likely pathogenic 390

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

c.1056_1060+3del Multiple submitters Cardiovascular phenotype
c.(1060+1_1061-1 Multiple submitters hypercholesterolemia, familial, 1
c.1060+1G>T Multiple submitters familial hypercholesterolemia
c.1060+2T>G Multiple submitters homozygous familial hypercholesterolemia
c.1061-1G>A Multiple submitters hypercholesterolemia, familial, 1
c.1061-1G>C Multiple submitters Cardiovascular phenotype
c.1061-2A>G Multiple submitters familial hypercholesterolemia
c.1186+1G>A Multiple submitters hypercholesterolemia, familial, 1
c.1186+2T>G Multiple submitters Cardiovascular phenotype
c.1187-10G>A Multiple submitters hypercholesterolemia, familial, 1
c.1187-1G>A Multiple submitters hypercholesterolemia, familial, 1
c.1187-1G>T Multiple submitters familial hypercholesterolemia
c.1187-2A>G Multiple submitters familial hypercholesterolemia
c.1358+1G>A Multiple submitters homozygous familial hypercholesterolemia
c.1358+1G>T Multiple submitters familial hypercholesterolemia
c.1358+2T>A Multiple submitters Dyslipidemia
c.1359-1G>C Multiple submitters familial hypercholesterolemia
c.1586+1G>A Multiple submitters Cardiovascular phenotype
c.1586+2T>A Multiple submitters hypercholesterolemia, familial, 1
c.1586+2T>C Multiple submitters hypercholesterolemia, familial, 1
c.1587-1G>A Multiple submitters Cardiovascular phenotype
c.1587-2A>G Multiple submitters Cardiovascular phenotype
c.1587-2A>T Multiple submitters Cardiovascular phenotype
c.1705+1G>A Multiple submitters hypercholesterolemia, familial, 1
c.1705+1G>C Multiple submitters familial hypercholesterolemia
c.1705+1G>T Multiple submitters familial hypercholesterolemia
c.1705+2_1705+3insC Multiple submitters hypercholesterolemia, familial, 1
c.1706-1G>T Multiple submitters Cardiovascular phenotype
c.1706-2A>C Multiple submitters hypercholesterolemia, familial, 1
c.1706-2A>T Multiple submitters familial hypercholesterolemia
c.1845+11C>G Multiple submitters hypercholesterolemia, familial, 1
c.1845+1del Multiple submitters hypercholesterolemia, familial, 1
c.1845+1G>A Multiple submitters Cardiovascular phenotype
c.1845+1G>T Multiple submitters hypercholesterolemia, familial, 1
c.1845+2del Multiple submitters homozygous familial hypercholesterolemia
c.1845+2T>C Multiple submitters Cardiovascular phenotype
c.1846-1G>A Multiple submitters Cardiovascular phenotype
c.1891_2311+1062del Multiple submitters hypercholesterolemia, familial, 1
c.190+1G>A Multiple submitters Cardiovascular phenotype
c.190+1G>T Multiple submitters Cardiovascular phenotype
c.190+2T>G Multiple submitters Cardiovascular phenotype
c.191-1G>A Multiple submitters Dyslipidemia
c.191-2A>G Multiple submitters Cardiovascular phenotype
c.191-2delinsCT Multiple submitters hypercholesterolemia, familial, 1
c.1987+2T>G Multiple submitters Cardiovascular phenotype
c.1988-2A>G Multiple submitters Cardiovascular phenotype
c.1988-2A>T Multiple submitters hypercholesterolemia, familial, 1
c.2140+1G>T Multiple submitters Cardiovascular phenotype
c.2140+2T>C Multiple submitters hypercholesterolemia, familial, 1
c.2140+86C>G Multiple submitters hypercholesterolemia, familial, 1
c.2141-2A>G Multiple submitters Cardiovascular phenotype
c.2311+1G>A Multiple submitters Cardiovascular phenotype
c.2311+1G>T Multiple submitters Cardiovascular phenotype
c.2311+2T>G Multiple submitters Cardiovascular phenotype
c.2312-1G>T Multiple submitters familial hypercholesterolemia
c.2312-3C>A Multiple submitters familial hypercholesterolemia
c.2389+1G>A Multiple submitters familial hypercholesterolemia
c.2389+1G>T Multiple submitters Cardiovascular phenotype
c.2390-1G>C Multiple submitters hypercholesterolemia, familial, 1
c.2547+1G>A Multiple submitters familial hypercholesterolemia
c.2547+5G>A Multiple submitters Cardiovascular phenotype
c.313_313+1del Multiple submitters Dyslipidemia
c.313+1dup Multiple submitters hypercholesterolemia, familial, 1
c.313+1G>T Multiple submitters LDLR-related disorder
c.313+2dup Multiple submitters familial hypercholesterolemia
c.313+2T>A Multiple submitters hypercholesterolemia, familial, 1
c.313+5G>A Multiple submitters familial hypercholesterolemia
c.314-1G>A Multiple submitters LDLR-related disorder
c.314-2A>C Multiple submitters homozygous familial hypercholesterolemia
c.314-2A>G Multiple submitters familial hypercholesterolemia
c.314-446_1187-386dup Multiple submitters hypercholesterolemia, familial, 1
c.67+1G>A Multiple submitters familial hypercholesterolemia
c.67+1G>T Multiple submitters hypercholesterolemia, familial, 1
c.67+2T>A Multiple submitters familial hypercholesterolemia
c.68-1G>A Multiple submitters familial hypercholesterolemia
c.68-1G>T Multiple submitters familial hypercholesterolemia
c.68-2A>G Multiple submitters hypercholesterolemia, familial, 1
c.68-2A>T Multiple submitters Cardiovascular phenotype
c.694+1G>A Multiple submitters hypercholesterolemia, familial, 1
c.694+1G>T Multiple submitters Cardiovascular phenotype
c.694+2T>C Multiple submitters LDLR-related disorder
c.695-1G>A Multiple submitters familial hypercholesterolemia
c.695-1G>T Multiple submitters familial hypercholesterolemia
c.817+1G>A Multiple submitters familial hypercholesterolemia
c.818-1G>A Multiple submitters Cardiovascular phenotype
c.940+1G>A Multiple submitters familial hypercholesterolemia
c.940+1G>C Multiple submitters familial hypercholesterolemia
c.940+2T>A Multiple submitters Cardiovascular phenotype
c.940+2T>C Multiple submitters hypercholesterolemia, familial, 1
c.940+2T>G Multiple submitters Dyslipidemia
c.940+3_940+6del Multiple submitters Dyslipidemia
c.941-1G>A Multiple submitters familial hypercholesterolemia
c.941-2A>C Multiple submitters Cardiovascular phenotype
c.941-2A>G Multiple submitters Cardiovascular phenotype
c.-135C>G Multiple submitters familial hypercholesterolemia
c.-136C>T Multiple submitters Cardiovascular phenotype
c.-152C>T Multiple submitters Cardiovascular phenotype
p.Ala501Glu Multiple submitters Cardiovascular phenotype
p.Ala501Val Multiple submitters familial hypercholesterolemia ⚠
p.Ala627Asp Multiple submitters familial hypercholesterolemia
p.Ala627fs Multiple submitters Cardiovascular phenotype
p.Ala627Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg416Gln Multiple submitters hypercholesterolemia, familial, 4 ⚠
p.Arg416Trp Multiple submitters homozygous familial hypercholesterolemia ⚠
p.Arg520Gly Multiple submitters hypercholesterolemia, familial, 1
p.Arg737fs Multiple submitters homozygous familial hypercholesterolemia
p.Arg744fs Multiple submitters familial hypercholesterolemia
p.Asn156fs Multiple submitters Cardiovascular phenotype
p.Asn322del Multiple submitters hypercholesterolemia, familial, 1
p.Asn370Thr Multiple submitters familial hypercholesterolemia
p.Asn405Lys Multiple submitters familial hypercholesterolemia ⚠
p.Asn425fs Multiple submitters familial hypercholesterolemia
p.Asn428fs Multiple submitters Cardiovascular phenotype
p.Asn564Asp Multiple submitters Cardiovascular phenotype
p.Asn564Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn564Thr Multiple submitters hypercholesterolemia, familial, 1
p.Asp139Gly Multiple submitters Cardiovascular phenotype
p.Asp139Val Multiple submitters hypercholesterolemia, familial, 1
p.Asp168Asn Multiple submitters homozygous familial hypercholesterolemia ⚠
p.Asp168His Multiple submitters Cardiovascular phenotype
p.Asp168Tyr Multiple submitters familial hypercholesterolemia
p.Asp172Asn Multiple submitters Dyslipidemia
p.Asp172His Multiple submitters familial hypercholesterolemia
p.Asp172Tyr Multiple submitters familial hypercholesterolemia
p.Asp175Asn Multiple submitters LDLR-related disorder
p.Asp178Glu Multiple submitters Cardiovascular phenotype
p.Asp178Gly Multiple submitters Cardiovascular phenotype
p.Asp178His Multiple submitters hypercholesterolemia, familial, 1
p.Asp178Val Multiple submitters familial hypercholesterolemia
p.Asp217Ter Multiple submitters familial hypercholesterolemia
p.Asp221_Asp227dup Multiple submitters Cardiovascular phenotype
p.Asp221Asn Multiple submitters LDLR-related disorder
p.Asp224_Glu228del Multiple submitters hypercholesterolemia, familial, 1
p.Asp224Asn Multiple submitters Cardiovascular phenotype
p.Asp224Gly Multiple submitters Cardiovascular phenotype
p.Asp224Val Multiple submitters Cardiovascular phenotype
p.Asp227_Glu228insCysLysAspLysSerAsp Multiple submitters familial hypercholesterolemia
p.Asp227del Multiple submitters familial hypercholesterolemia
p.Asp227Val Multiple submitters familial hypercholesterolemia
p.Asp256Gly Multiple submitters hypercholesterolemia, familial, 1
p.Asp260fs Multiple submitters Cardiovascular phenotype
p.Asp263Gly Multiple submitters Cardiovascular phenotype
p.Asp266His Multiple submitters familial hypercholesterolemia
p.Asp301Gly Multiple submitters familial hypercholesterolemia
p.Asp301Tyr Multiple submitters familial hypercholesterolemia
p.Asp307Glu Multiple submitters Dyslipidemia
p.Asp307Gly Multiple submitters familial hypercholesterolemia
p.Asp354Asn Multiple submitters familial hypercholesterolemia
p.Asp354Gly Multiple submitters homozygous familial hypercholesterolemia
p.Asp354Val Multiple submitters familial hypercholesterolemia
p.Asp356Tyr Multiple submitters Cardiovascular phenotype
p.Asp433His Multiple submitters familial hypercholesterolemia
p.Asp579Tyr Multiple submitters familial hypercholesterolemia
p.Asp622Asn Multiple submitters familial hypercholesterolemia
p.Asp638fs Multiple submitters familial hypercholesterolemia
p.Cys104Arg Multiple submitters familial hypercholesterolemia
p.Cys104Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Cys109Arg Multiple submitters Cardiovascular phenotype
p.Cys109Phe Multiple submitters hypercholesterolemia, familial, 1
p.Cys109Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Cys116Arg Multiple submitters familial hypercholesterolemia
p.Cys121Arg Multiple submitters familial hypercholesterolemia
p.Cys128Arg Multiple submitters hypercholesterolemia, familial, 1
p.Cys128Tyr Multiple submitters familial hypercholesterolemia
p.Cys134Arg Multiple submitters homozygous familial hypercholesterolemia
p.Cys134Phe Multiple submitters familial hypercholesterolemia
p.Cys134Tyr Multiple submitters familial hypercholesterolemia
p.Cys143Arg Multiple submitters familial hypercholesterolemia
p.Cys143Gly Multiple submitters familial hypercholesterolemia
p.Cys143Phe Multiple submitters familial hypercholesterolemia
p.Cys143Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys143Tyr Multiple submitters LDLR-related disorder
p.Cys148Arg Multiple submitters Cardiovascular phenotype
p.Cys148Ser Multiple submitters Dyslipidemia
p.Cys148Tyr Multiple submitters homozygous familial hypercholesterolemia
p.Cys155Arg Multiple submitters Cardiovascular phenotype
p.Cys155Gly Multiple submitters Cardiovascular phenotype
p.Cys155Tyr Multiple submitters familial hypercholesterolemia
p.Cys160Arg Multiple submitters Cardiovascular phenotype
p.Cys160Gly Multiple submitters familial hypercholesterolemia
p.Cys167Arg Multiple submitters familial hypercholesterolemia
p.Cys167Ter Multiple submitters homozygous familial hypercholesterolemia
p.Cys167Trp Multiple submitters hypercholesterolemia, familial, 1
p.Cys167Tyr Multiple submitters familial hypercholesterolemia
p.Cys173Arg Multiple submitters Cardiovascular phenotype
p.Cys173Ter Multiple submitters homozygous familial hypercholesterolemia
p.Cys173Trp Multiple submitters Dyslipidemia
p.Cys184Arg Multiple submitters familial hypercholesterolemia
p.Cys197Arg Multiple submitters Cardiovascular phenotype
p.Cys197Gly Multiple submitters homozygous familial hypercholesterolemia
p.Cys197Trp Multiple submitters Cardiovascular phenotype
p.Cys197Tyr Multiple submitters LDLR-related disorder
p.Cys204Arg Multiple submitters Cardiovascular phenotype
p.Cys204Gly Multiple submitters Cardiovascular phenotype
p.Cys209Tyr Multiple submitters LDLR-related disorder
p.Cys216Arg Multiple submitters Cardiovascular phenotype
p.Cys216Tyr Multiple submitters Cardiovascular phenotype
p.Cys222Tyr Multiple submitters Cardiovascular phenotype
p.Cys231Arg Multiple submitters Cardiovascular phenotype
p.Cys231Gly Multiple submitters Cardiovascular phenotype
p.Cys231Ter Multiple submitters LDLR-related disorder
p.Cys231Tyr Multiple submitters familial hypercholesterolemia
p.Cys248Phe Multiple submitters hypercholesterolemia, familial, 1
p.Cys261Phe Multiple submitters homozygous familial hypercholesterolemia
p.Cys270Tyr Multiple submitters familial hypercholesterolemia
p.Cys276Trp Multiple submitters familial hypercholesterolemia
p.Cys27Arg Multiple submitters Cardiovascular phenotype
p.Cys27Ter Multiple submitters Cardiovascular phenotype
p.Cys284Arg Multiple submitters familial hypercholesterolemia
p.Cys289fs Multiple submitters hypercholesterolemia, familial, 1
p.Cys302fs Multiple submitters familial hypercholesterolemia
p.Cys302Phe Multiple submitters familial hypercholesterolemia
p.Cys302Trp Multiple submitters hypercholesterolemia, familial, 1
p.Cys313Tyr Multiple submitters Dyslipidemia
p.Cys318Arg Multiple submitters familial hypercholesterolemia
p.Cys318Phe Multiple submitters Cardiovascular phenotype
p.Cys318Ter Multiple submitters hypercholesterolemia, familial, 1
p.Cys329Gly Multiple submitters Cardiovascular phenotype
p.Cys329Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Cys338Gly Multiple submitters Cardiovascular phenotype
p.Cys338Ser Multiple submitters familial hypercholesterolemia
p.Cys338Tyr Multiple submitters Cardiovascular phenotype
p.Cys340Leu Multiple submitters Cardiovascular phenotype
p.Cys340Phe Multiple submitters familial hypercholesterolemia
p.Cys340Trp Multiple submitters hypercholesterolemia, familial, 1
p.Cys340Tyr Multiple submitters LDLR-related disorder
p.Cys34Gly Multiple submitters LDLR-related disorder
p.Cys352Phe Multiple submitters familial hypercholesterolemia
p.Cys352Ter Multiple submitters familial hypercholesterolemia
p.Cys352Trp Multiple submitters LDLR-related disorder
p.Cys358Arg Multiple submitters familial hypercholesterolemia
p.Cys358Tyr Multiple submitters Cardiovascular phenotype
p.Cys364Tyr Multiple submitters Cardiovascular phenotype
p.Cys368Arg Multiple submitters Cardiovascular phenotype
p.Cys368Tyr Multiple submitters Cardiovascular phenotype
p.Cys377Arg Multiple submitters familial hypercholesterolemia
p.Cys377Gly Multiple submitters hypercholesterolemia, familial, 1
p.Cys377Phe Multiple submitters Cardiovascular phenotype
p.Cys377Ser Multiple submitters Cardiovascular phenotype
p.Cys377Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys379Arg Multiple submitters Cardiovascular phenotype
p.Cys379Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Cys392Arg Multiple submitters familial hypercholesterolemia
p.Cys46Gly Multiple submitters familial hypercholesterolemia
p.Cys46Ter Multiple submitters hypercholesterolemia, familial, 1
p.Cys63Arg Multiple submitters hypercholesterolemia, familial, 1
p.Cys667_Glu668delinsTer Multiple submitters hypercholesterolemia, familial, 1
p.Cys667Arg Multiple submitters familial hypercholesterolemia
p.Cys667Trp Multiple submitters LDLR-related disorder
p.Cys677Arg Multiple submitters Cardiovascular phenotype
p.Cys677Phe Multiple submitters familial hypercholesterolemia
p.Cys677Tyr Multiple submitters familial hypercholesterolemia
p.Cys681Ter Multiple submitters LDLR-related disorder
p.Cys681Tyr Multiple submitters Cardiovascular phenotype
p.Cys68Ter Multiple submitters homozygous familial hypercholesterolemia
p.Cys696Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Cys698Arg Multiple submitters familial hypercholesterolemia
p.Cys698fs Multiple submitters familial hypercholesterolemia
p.Cys698Phe Multiple submitters familial hypercholesterolemia
p.Cys698Tyr Multiple submitters Cardiovascular phenotype
p.Cys711Tyr Multiple submitters Cardiovascular phenotype
p.Cys75Ser Multiple submitters familial hypercholesterolemia
p.Cys82Gly Multiple submitters familial hypercholesterolemia
p.Cys82Phe Multiple submitters familial hypercholesterolemia
p.Cys82Tyr Multiple submitters Cardiovascular phenotype
p.Cys89Trp Multiple submitters familial hypercholesterolemia
p.Cys89Tyr Multiple submitters homozygous familial hypercholesterolemia
p.Cys95Arg Multiple submitters Cardiovascular phenotype
p.Cys95Phe Multiple submitters Cardiovascular phenotype
p.Cys95Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys95Trp Multiple submitters LDLR-related disorder
p.Gln111Ter Multiple submitters Cardiovascular phenotype
p.Gln154Ter Multiple submitters Cardiovascular phenotype
p.Gln163Ter Multiple submitters hypercholesterolemia, familial, 1
p.Gln254Pro Multiple submitters Cardiovascular phenotype
p.Gln349fs Multiple submitters familial hypercholesterolemia
p.Gln384Pro Multiple submitters familial hypercholesterolemia
p.Gln474fs Multiple submitters hypercholesterolemia, familial, 1
p.Gln660Ter Multiple submitters LDLR-related disorder
p.Gln770fs Multiple submitters familial hypercholesterolemia
p.Gln92fs Multiple submitters familial hypercholesterolemia
p.Glu101Ala Multiple submitters Cardiovascular phenotype
p.Glu113Ter Multiple submitters familial hypercholesterolemia
p.Glu140Asp Multiple submitters Cardiovascular phenotype
p.Glu140Gly Multiple submitters hypercholesterolemia, familial, 1
p.Glu174Ter Multiple submitters homozygous familial hypercholesterolemia
p.Glu208Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu208Ter Multiple submitters LDLR-related disorder
p.Glu228_Cys231del Multiple submitters Cardiovascular phenotype
p.Glu228Ala Multiple submitters hypercholesterolemia, familial, 1
p.Glu228Asp Multiple submitters hypercholesterolemia, familial, 1
p.Glu228Gln Multiple submitters LDLR-related disorder
p.Glu228Gly Multiple submitters familial hypercholesterolemia
p.Glu28Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu337_Pro341del Multiple submitters familial hypercholesterolemia
p.Glu418Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu58Ter Multiple submitters hypercholesterolemia, familial, 1
p.Glu615Val Multiple submitters Cardiovascular phenotype
p.Glu714Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu714Ter Multiple submitters Cardiovascular phenotype

Likely pathogenic 553

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

c.1186+5G>A Expert panel hypercholesterolemia, familial, 1
c.1359-5C>G Expert panel hypercholesterolemia, familial, 1
c.1705+2T>C Expert panel hypercholesterolemia, familial, 1
c.190+4A>T Expert panel hypercholesterolemia, familial, 1
c.941-12G>A Expert panel hypercholesterolemia, familial, 1
c.-149C>A Expert panel hypercholesterolemia, familial, 1
p.Ala399Asp Expert panel hypercholesterolemia, familial, 1
p.Ala399Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala431Pro Expert panel hypercholesterolemia, familial, 1
p.Ala540Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala612fs Expert panel hypercholesterolemia, familial, 1
p.Ala697Pro Expert panel hypercholesterolemia, familial, 1
p.Arg115Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg300Gly Expert panel hypercholesterolemia, familial, 1
p.Arg350Pro Expert panel hypercholesterolemia, familial, 1
p.Arg406= Expert panel hypercholesterolemia, familial, 1
p.Arg406Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg406Pro Expert panel hypercholesterolemia, familial, 1
p.Arg574His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg595Leu Expert panel hypercholesterolemia, familial, 1
p.Arg633Leu Expert panel hypercholesterolemia, familial, 1
p.Arg81Cys Expert panel hypercholesterolemia, familial, 1
p.Asn825Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn825Lys Expert panel hypercholesterolemia, familial, 1
p.Asp100Asn Expert panel hypercholesterolemia, familial, 1
p.Asp100Gly Expert panel hypercholesterolemia, familial, 1
p.Asp118Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp266Gly Expert panel hypercholesterolemia, familial, 1
p.Asp266Val Expert panel hypercholesterolemia, familial, 1
p.Asp304Glu Expert panel hypercholesterolemia, familial, 1
p.Asp304Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp356Ala Expert panel hypercholesterolemia, familial, 1
p.Asp356Val Expert panel hypercholesterolemia, familial, 1
p.Asp415Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp415His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp482Gly Expert panel hypercholesterolemia, familial, 1
p.Asp482His Expert panel hypercholesterolemia, familial, 1
p.Asp492Gly Expert panel hypercholesterolemia, familial, 1
p.Asp492His Expert panel hypercholesterolemia, familial, 1
p.Asp651Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp651Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp700Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp700Gly Expert panel hypercholesterolemia, familial, 1
p.Asp707Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp90Ala Expert panel hypercholesterolemia, familial, 1
p.Asp90Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys104Phe Expert panel hypercholesterolemia, familial, 1
p.Cys184Ser Expert panel hypercholesterolemia, familial, 1
p.Cys197Phe Expert panel hypercholesterolemia, familial, 1
p.Cys222Arg Expert panel hypercholesterolemia, familial, 1
p.Cys222Phe Expert panel hypercholesterolemia, familial, 1
p.Cys231Trp Expert panel hypercholesterolemia, familial, 1
p.Cys243Arg Expert panel hypercholesterolemia, familial, 1
p.Cys276Arg Expert panel hypercholesterolemia, familial, 1
p.Cys289Arg Expert panel hypercholesterolemia, familial, 1
p.Cys302Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys313Arg Expert panel hypercholesterolemia, familial, 1
p.Cys325Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys352Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys364Arg Expert panel hypercholesterolemia, familial, 1
p.Cys392Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys667Tyr Expert panel hypercholesterolemia, familial, 1
p.Cys681Gly Expert panel hypercholesterolemia, familial, 1
p.Cys89Arg Expert panel hypercholesterolemia, familial, 1
p.Cys95Gly Expert panel hypercholesterolemia, familial, 1
p.Cys95Tyr Expert panel hypercholesterolemia, familial, 1
p.Gln378Pro Expert panel hypercholesterolemia, familial, 1
p.Glu357Lys Expert panel hypercholesterolemia, familial, 1
p.Glu408Lys Expert panel hypercholesterolemia, familial, 1
p.Glu408Val Expert panel hypercholesterolemia, familial, 1
p.Glu763fs Expert panel hypercholesterolemia, familial, 1
p.Gly323Cys Expert panel hypercholesterolemia, familial, 1
p.Gly335Cys Expert panel hypercholesterolemia, familial, 1
p.Gly335Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly343Asp Expert panel hypercholesterolemia, familial, 1
p.Gly343Val Expert panel hypercholesterolemia, familial, 1
p.Gly396Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly461Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly478Glu Expert panel hypercholesterolemia, familial, 1
p.Gly592Arg Expert panel hypercholesterolemia, familial, 1
p.Gly675Ser Expert panel hypercholesterolemia, familial, 1
p.Gly844Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.His583Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.His583Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.His583Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile488Asn Expert panel hypercholesterolemia, familial, 1
p.Leu15Pro Expert panel hypercholesterolemia, familial, 1
p.Leu426Arg Expert panel hypercholesterolemia, familial, 1
p.Leu426Pro Expert panel hypercholesterolemia, familial, 1
p.Leu479Gln Expert panel hypercholesterolemia, familial, 1
p.Leu599Ser Expert panel hypercholesterolemia, familial, 1
p.Lys816fs Expert panel hypercholesterolemia, familial, 1
p.Met1Ile Expert panel hypercholesterolemia, familial, 1
p.Met1Thr Expert panel hypercholesterolemia, familial, 1
p.Met1Val Expert panel hypercholesterolemia, familial, 1
p.Met652Thr Expert panel hypercholesterolemia, familial, 1
p.Phe282Leu Expert panel hypercholesterolemia, familial, 1
p.Phe403del Expert panel hypercholesterolemia, familial, 1
p.Phe614Ile Expert panel hypercholesterolemia, familial, 1
p.Phe619Cys Expert panel hypercholesterolemia, familial, 1
p.Phe619Leu Expert panel hypercholesterolemia, familial, 1
p.Phe619Ser Expert panel hypercholesterolemia, familial, 1
p.Pro181Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro661Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser286Arg Expert panel hypercholesterolemia, familial, 1
p.Ser326Phe Expert panel hypercholesterolemia, familial, 1
p.Ser499Pro Expert panel hypercholesterolemia, familial, 1
p.Ser580Phe Expert panel hypercholesterolemia, familial, 1
p.Ser584Pro Expert panel hypercholesterolemia, familial, 1
p.Ser648Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser849Ter Expert panel hypercholesterolemia, familial, 1
p.Thr147Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr404Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr413Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr434Lys Expert panel hypercholesterolemia, familial, 1
p.Thr454Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr659Pro Expert panel hypercholesterolemia, familial, 1
p.Trp443Arg Expert panel hypercholesterolemia, familial, 1
p.Trp443Ser Expert panel hypercholesterolemia, familial, 1
p.Tyr400_Phe402del Expert panel hypercholesterolemia, familial, 1
p.Val523Leu Expert panel hypercholesterolemia, familial, 1
p.Val639Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val800fs Expert panel hypercholesterolemia, familial, 1
c.1706-1G>A Multiple submitters familial hypercholesterolemia
c.190+2_190+3del Multiple submitters familial hypercholesterolemia
c.2140+1G>C Multiple submitters familial hypercholesterolemia
c.2312-1G>A Multiple submitters familial hypercholesterolemia
c.313_313+1delinsTC Multiple submitters familial hypercholesterolemia
c.313+3A>C Multiple submitters LDLR-related disorder
c.313+5G>T Multiple submitters familial hypercholesterolemia
p.Ala151del Multiple submitters hypercholesterolemia, familial, 1
p.Ala480Thr Multiple submitters familial hypercholesterolemia
p.Ala627Val Multiple submitters Cardiovascular phenotype
p.Arg215Ser Multiple submitters hypercholesterolemia, familial, 1
p.Arg416Leu Multiple submitters familial hypercholesterolemia ⚠
p.Arg416Pro Multiple submitters familial hypercholesterolemia
p.Asn439Tyr Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Asp136Val Multiple submitters hypercholesterolemia, familial, 1
p.Asp139Asn Multiple submitters hypercholesterolemia, familial, 1
p.Asp139Glu Multiple submitters familial hypercholesterolemia
p.Asp168Ala Multiple submitters hypercholesterolemia, familial, 1
p.Asp168Gly Multiple submitters familial hypercholesterolemia
p.Asp172Ala Multiple submitters familial hypercholesterolemia
p.Asp172Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp172Gly Multiple submitters Cardiovascular phenotype
p.Asp175Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Asp178Asn Multiple submitters hypercholesterolemia, familial, 1
p.Asp217_Gly219del Multiple submitters hypercholesterolemia, familial, 1
p.Asp221Val Multiple submitters hypercholesterolemia, familial, 1
p.Asp224_Asp227dup Multiple submitters hypercholesterolemia, familial, 1
p.Asp224Glu Multiple submitters familial hypercholesterolemia
p.Asp307His Multiple submitters familial hypercholesterolemia
p.Asp354Ala Multiple submitters Cardiovascular phenotype
p.Asp47_Gly48del Multiple submitters hypercholesterolemia, familial, 1
p.Asp525Val Multiple submitters hypercholesterolemia, familial, 1
p.Asp579Gly Multiple submitters hypercholesterolemia, familial, 1
p.Asp601Val Multiple submitters familial hypercholesterolemia
p.Asp94Tyr Multiple submitters familial hypercholesterolemia
p.Cys116_Ile122del Multiple submitters hypercholesterolemia, familial, 1
p.Cys121Phe Multiple submitters familial hypercholesterolemia
p.Cys121Ser Multiple submitters familial hypercholesterolemia
p.Cys121Tyr Multiple submitters Dyslipidemia
p.Cys155Phe Multiple submitters Cardiovascular phenotype
p.Cys160Ser Multiple submitters familial hypercholesterolemia
p.Cys173Gly Multiple submitters hypercholesterolemia, familial, 1
p.Cys173Tyr Multiple submitters familial hypercholesterolemia
p.Cys197Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys204Phe Multiple submitters Cardiovascular phenotype
p.Cys204Tyr Multiple submitters hypercholesterolemia, familial, 1
p.Cys222Gly Multiple submitters familial hypercholesterolemia
p.Cys222Trp Multiple submitters hypercholesterolemia, familial, 1
p.Cys236_Met264del Multiple submitters hypercholesterolemia, familial, 1
p.Cys248Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys248Tyr Multiple submitters familial hypercholesterolemia
p.Cys255Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys261Ser Multiple submitters Cardiovascular phenotype
p.Cys276Gly Multiple submitters hypercholesterolemia, familial, 1
p.Cys276Tyr Multiple submitters Cardiovascular phenotype
p.Cys284Phe Multiple submitters Cardiovascular phenotype
p.Cys296Trp Multiple submitters Cardiovascular phenotype
p.Cys313Gly Multiple submitters Cardiovascular phenotype
p.Cys318Tyr Multiple submitters Cardiovascular phenotype
p.Cys325Arg Multiple submitters familial hypercholesterolemia
p.Cys325Phe Multiple submitters Cardiovascular phenotype
p.Cys325Ser Multiple submitters Cardiovascular phenotype
p.Cys329Phe Multiple submitters hypercholesterolemia, familial, 1
p.Cys338Phe Multiple submitters hypercholesterolemia, familial, 1
p.Cys352Arg Multiple submitters hypercholesterolemia, familial, 1
p.Cys352Ser Multiple submitters Cardiovascular phenotype
p.Cys364Gly Multiple submitters Cardiovascular phenotype
p.Cys364Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys39Ter Multiple submitters hypercholesterolemia, familial, 1
p.Cys46Ser Multiple submitters hypercholesterolemia, familial, 1
p.Cys667Phe Multiple submitters Cardiovascular phenotype
p.Cys68Arg Multiple submitters familial hypercholesterolemia
p.Cys696Phe Multiple submitters Cardiovascular phenotype
p.Cys696Trp Multiple submitters hypercholesterolemia, familial, 1
p.Cys698Ser Multiple submitters familial hypercholesterolemia
p.Cys75Tyr Multiple submitters Cardiovascular phenotype
p.Cys82del Multiple submitters familial hypercholesterolemia
p.Cys82Ser Multiple submitters Dyslipidemia
p.Cys89Gly Multiple submitters hypercholesterolemia, familial, 1
p.Gln366Pro Multiple submitters Cardiovascular phenotype
p.Gln384_Asp386del Multiple submitters hypercholesterolemia, familial, 1
p.Glu201Lys Multiple submitters Cardiovascular phenotype
p.Glu229Val Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Glu267Asp Multiple submitters familial hypercholesterolemia
p.Glu308Lys Multiple submitters familial hypercholesterolemia
p.Glu357_Asp362dup Multiple submitters hypercholesterolemia, familial, 1
p.Glu58Gly Multiple submitters familial hypercholesterolemia
p.Gly176Val Multiple submitters hypercholesterolemia, familial, 1
p.Gly373Ala Multiple submitters familial hypercholesterolemia
p.Gly373Cys Multiple submitters familial hypercholesterolemia
p.Gly565Arg Multiple submitters familial hypercholesterolemia
p.Gly565Asp Multiple submitters hypercholesterolemia, familial, 1
p.Gly663Glu Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Gly805Arg Multiple submitters hypercholesterolemia, familial, 1
p.Ile161Asn Multiple submitters hypercholesterolemia, familial, 1
p.Ile451Phe Multiple submitters familial hypercholesterolemia
p.Ile473Asn Multiple submitters familial hypercholesterolemia
p.Leu414Gln Multiple submitters familial hypercholesterolemia
p.Leu432Pro Multiple submitters familial hypercholesterolemia
p.Leu555Arg Multiple submitters Cardiovascular phenotype
p.Leu555Pro Multiple submitters hypercholesterolemia, familial, 1
p.Leu605Pro Multiple submitters Cardiovascular phenotype
p.Leu658Pro Multiple submitters hypercholesterolemia, familial, 1
p.Leu798_Val800del Multiple submitters hypercholesterolemia, familial, 1
p.Leu799Arg Multiple submitters Cardiovascular phenotype
p.Lys223_Cys231del Multiple submitters hypercholesterolemia, familial, 1
p.Lys223Asn Multiple submitters familial hypercholesterolemia
p.Lys225_Asp227dup Multiple submitters familial hypercholesterolemia
p.Lys294Glu Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Lys411Glu Multiple submitters hypercholesterolemia, familial, 1
p.Lys509Glu Multiple submitters Cardiovascular phenotype
p.Met531Lys Multiple submitters hypercholesterolemia, familial, 1
p.Phe153Val Multiple submitters hypercholesterolemia, familial, 1
p.Phe629Cys Multiple submitters familial hypercholesterolemia
p.Pro106_Asp112del Multiple submitters hypercholesterolemia, familial, 1
p.Pro608Arg Multiple submitters hypercholesterolemia, familial, 1
p.Pro685Arg Multiple submitters Cardiovascular phenotype
p.Pro685Gln Multiple submitters hypercholesterolemia, familial, 1
p.Ser158Cys Multiple submitters hypercholesterolemia, familial, 1
p.Ser226_Asp227insGluAspLysSer Multiple submitters familial hypercholesterolemia
p.Ser226Cys Multiple submitters familial hypercholesterolemia
p.Ser444Phe Multiple submitters hypercholesterolemia, familial, 1
p.Ser610Cys Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Trp10Arg Multiple submitters hypercholesterolemia, familial, 1
p.Trp214Ser Multiple submitters hypercholesterolemia, familial, 1
p.Trp490Gly Multiple submitters familial hypercholesterolemia
p.Trp536Gly Multiple submitters hypercholesterolemia, familial, 1
p.Tyr419Cys Multiple submitters hypercholesterolemia, familial, 1
p.Tyr828His Multiple submitters hypercholesterolemia, familial, 1
p.Tyr828Ser Multiple submitters familial hypercholesterolemia
p.Val436Glu Multiple submitters Cardiovascular phenotype
c.1061-3_1061dup Single submitter familial hypercholesterolemia
c.1186+2T>C Single submitter hypercholesterolemia, familial, 1
c.1187-10_1272dup Single submitter hypercholesterolemia, familial, 1
c.1357_1359-37del Single submitter familial hypercholesterolemia
c.1358+3_1358+8del Single submitter hypercholesterolemia, familial, 1
c.1586+1G>T Single submitter hypercholesterolemia, familial, 1
c.1586+2T>G Single submitter Cardiovascular phenotype
c.1706-2A>G Single submitter hypercholesterolemia, familial, 1
c.1706-5_1745delinsGA Single submitter familial hypercholesterolemia
c.1846-1_1847dup Single submitter familial hypercholesterolemia
c.1846-11T>A Single submitter hypercholesterolemia, familial, 1
c.1846-1G>C Single submitter hypercholesterolemia, familial, 1
c.1846-2A>C Single submitter hypercholesterolemia, familial, 1
c.1846-2A>G Single submitter
c.1987+2_1987+34del Single submitter hypercholesterolemia, familial, 1
c.1988_2140+1064del Single submitter homozygous familial hypercholesterolemia
c.2140+2T>A Single submitter hypercholesterolemia, familial, 1
c.2141-1G>C Single submitter familial hypercholesterolemia
c.2141-218G>A Single submitter familial hypercholesterolemia
c.2281_2311+15del Single submitter familial hypercholesterolemia
c.2311+10G>A Single submitter
c.2311+1G>C Single submitter hypercholesterolemia, familial, 1
c.2312-2A>C Single submitter Cardiovascular phenotype
c.2370_2389+20del Single submitter familial hypercholesterolemia
c.2384_2389+2del Single submitter familial hypercholesterolemia
c.2387_2389+3del Single submitter hypercholesterolemia, familial, 1
c.2389+2_2389+5delinsGGCCCCAT Single submitter hypercholesterolemia, familial, 1
c.2462_2463insALU Single submitter Cardiovascular phenotype
c.2548-2A>G Single submitter hypercholesterolemia, familial, 1
c.311_313+18del Single submitter familial hypercholesterolemia
c.(313+1_314-1 Single submitter hypercholesterolemia, familial, 1
c.314-62_1186+60dup Single submitter hypercholesterolemia, familial, 1
c.67+1dup Single submitter familial hypercholesterolemia
c.68-5_68-2del Single submitter hypercholesterolemia, familial, 1
c.680_681ins(21 Single submitter hypercholesterolemia, familial, 1
c.694+470_2141-746dup Single submitter hypercholesterolemia, familial, 1
c.694+4dup Single submitter hypercholesterolemia, familial, 1
c.817+1G>C Single submitter homozygous familial hypercholesterolemia
c.817+1G>T Single submitter hypercholesterolemia, familial, 1
c.817+2T>C Single submitter hypercholesterolemia, familial, 1
c.818-3C>G Single submitter hypercholesterolemia, familial, 1
c.(940+1_941-1 Single submitter hypercholesterolemia, familial, 1
c.940+845_1186+531del Single submitter hypercholesterolemia, familial, 1
c.-124dup Single submitter hypercholesterolemia, familial, 1
c.-155_-150delACCCCA Single submitter hypercholesterolemia, familial, 1
c.-168A>G Single submitter hypercholesterolemia, familial, 1

Conflicting classifications of pathogenicity 322

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

c.1060+10G>A Single submitter Cardiovascular phenotype
c.1060+24C>A Single submitter familial hypercholesterolemia
c.1060+7= Single submitter hypercholesterolemia, familial, 1
c.1358+10G>A Single submitter familial hypercholesterolemia
c.1358+2T>C Single submitter Cardiovascular phenotype ⚠
c.1359-30C>A Single submitter Cardiovascular phenotype
c.1359-3C>T Single submitter familial hypercholesterolemia
c.1359-6C>T Single submitter familial hypercholesterolemia
c.1586+12C>T Single submitter familial hypercholesterolemia
c.1586+5G>C Single submitter familial hypercholesterolemia
c.1587-11C>T Single submitter familial hypercholesterolemia
c.1587-3C>G Single submitter Cardiovascular phenotype
c.1706-16C>T Single submitter Cardiovascular phenotype
c.1706-7T>G Single submitter familial hypercholesterolemia
c.1845+11C>T Single submitter familial hypercholesterolemia
c.1846-9C>A Single submitter familial hypercholesterolemia
c.190+5G>A Single submitter Cardiovascular phenotype
c.191-15C>G Single submitter familial hypercholesterolemia
c.191-?_940+?del Single submitter hypercholesterolemia, familial, 1
c.1987+6G>C Single submitter familial hypercholesterolemia
c.1988-5C>T Single submitter Cardiovascular phenotype
c.2140+14C>T Single submitter familial hypercholesterolemia
c.2141-7C>A Single submitter familial hypercholesterolemia
c.2311+1941_*1216dup Single submitter hypercholesterolemia, familial, 1
c.2312-?_2547+?del Single submitter hypercholesterolemia, familial, 1
c.2389+3A>C Single submitter LDLR-related disorder
c.2389+5G>T Single submitter familial hypercholesterolemia
c.2390-?_2547+?del Single submitter hypercholesterolemia, familial, 1
c.2390-3C>T Single submitter familial hypercholesterolemia
c.2547+9C>A Single submitter Cardiovascular phenotype
c.2548-12A>G Single submitter familial hypercholesterolemia
c.2548-23C>T Single submitter familial hypercholesterolemia
c.313+1G>C Single submitter homozygous familial hypercholesterolemia ⚠
c.313+4_313+16del Single submitter Cardiovascular phenotype
c.313+6T>G Single submitter Cardiovascular phenotype
c.314-9T>A Single submitter hypercholesterolemia, familial, 1
c.68-18C>G Single submitter Cardiovascular phenotype
c.694+6G>A Single submitter familial hypercholesterolemia
c.694+8_694+18del Single submitter hypercholesterolemia, familial, 1
c.694+8C>T Single submitter familial hypercholesterolemia
c.695-10T>G Single submitter familial hypercholesterolemia
c.695-3C>T Single submitter hypercholesterolemia, familial, 1
c.695-?_817+?del Single submitter hypercholesterolemia, familial, 1
c.817+14A>G Single submitter Cardiovascular phenotype
c.940+16G>A Single submitter Cardiovascular phenotype
c.941-?_1060+?del Single submitter hypercholesterolemia, familial, 1
c.941-?_1586+?del Single submitter hypercholesterolemia, familial, 1
c.941-3C>G Single submitter familial hypercholesterolemia
c.941-8C>G Single submitter familial hypercholesterolemia
c.-121T>C Single submitter familial hypercholesterolemia
c.-138del Single submitter Cardiovascular phenotype
c.-139_-130delCTCCCCCTGC Single submitter familial hypercholesterolemia
c.-23A>C Single submitter familial hypercholesterolemia
c.-84G>A Single submitter familial hypercholesterolemia
c.-97G>T Single submitter familial hypercholesterolemia
c.*19G>A Single submitter familial hypercholesterolemia
c.*2210T>C Single submitter hypercholesterolemia, familial, 1
c.*2319C>G Single submitter hypercholesterolemia, familial, 1
p.Ala151= Single submitter Cardiovascular phenotype
p.Ala151Pro Single submitter Cardiovascular phenotype ⚠
p.Ala17Thr Single submitter familial hypercholesterolemia ⚠
p.Ala19Val Single submitter familial hypercholesterolemia ⚠
p.Ala431Gly Single submitter Cardiovascular phenotype ⚠
p.Ala475Val Single submitter Cardiovascular phenotype ⚠
p.Ala521Thr Single submitter Cardiovascular phenotype ⚠
p.Ala612Ser Single submitter Cardiovascular phenotype ⚠
p.Ala771Thr Single submitter familial hypercholesterolemia ⚠
p.Ala771Val Single submitter familial hypercholesterolemia ⚠
p.Ala860Val Single submitter familial hypercholesterolemia ⚠
p.Arg124Trp Single submitter hypercholesterolemia, familial, 1 ⚠
p.Arg215His Single submitter hypercholesterolemia, familial, 1 ⚠
p.Arg257Trp Single submitter Cardiovascular phenotype ⚠
p.Arg350Gly Single submitter familial hypercholesterolemia ⚠
p.Arg410Gly Single submitter familial hypercholesterolemia ⚠
p.Arg410Ser Single submitter familial hypercholesterolemia ⚠
p.Arg440Gly Single submitter familial hypercholesterolemia
p.Arg440Ile Single submitter familial hypercholesterolemia ⚠
p.Arg458_Gly461delinsSer Single submitter familial hypercholesterolemia
p.Arg513Lys Single submitter familial hypercholesterolemia ⚠
p.Arg737Gly Single submitter familial hypercholesterolemia ⚠
p.Arg744_Pro745dup Single submitter familial hypercholesterolemia
p.Arg788Ser Single submitter familial hypercholesterolemia ⚠
p.Arg88= Single submitter familial hypercholesterolemia
p.Asn30= Single submitter Cardiovascular phenotype
p.Asn316Lys Single submitter familial hypercholesterolemia ⚠
p.Asn316Ser Single submitter Cardiovascular phenotype ⚠
p.Asn316Thr Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asn322Ile Single submitter familial hypercholesterolemia ⚠
p.Asn322Lys Single submitter familial hypercholesterolemia ⚠
p.Asn370Lys Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asn405Ser Single submitter familial hypercholesterolemia ⚠
p.Asn428Thr Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asn564His Single submitter familial hypercholesterolemia ⚠
p.Asn564Lys Single submitter familial hypercholesterolemia ⚠
p.Asn591_Gly592delinsLys Single submitter familial hypercholesterolemia
p.Asn625Thr Single submitter familial hypercholesterolemia ⚠
p.Asn97Lys Single submitter Dyslipidemia ⚠
p.Asp100Glu Single submitter familial hypercholesterolemia ⚠
p.Asp100Val Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asp118Asn Single submitter Cardiovascular phenotype ⚠
p.Asp129Ala Single submitter familial hypercholesterolemia ⚠
p.Asp131Gly Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asp131His Single submitter familial hypercholesterolemia ⚠
p.Asp133Ala Single submitter familial hypercholesterolemia ⚠
p.Asp133Asn Single submitter familial hypercholesterolemia ⚠
p.Asp168Glu Single submitter Cardiovascular phenotype ⚠
p.Asp170Gly Single submitter familial hypercholesterolemia ⚠
p.Asp227His Single submitter familial hypercholesterolemia ⚠
p.Asp25Asn Single submitter Cardiovascular phenotype ⚠
p.Asp260Glu Single submitter Cardiovascular phenotype ⚠
p.Asp307Ala Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asp307Asn Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asp342Glu Single submitter Cardiovascular phenotype ⚠
p.Asp356Asn Single submitter Cardiovascular phenotype ⚠
p.Asp356His Single submitter familial hypercholesterolemia ⚠
p.Asp36Glu Single submitter Cardiovascular phenotype ⚠
p.Asp445Glu Single submitter LDLR-related disorder ⚠
p.Asp445Tyr Single submitter familial hypercholesterolemia ⚠
p.Asp492Tyr Single submitter familial hypercholesterolemia ⚠
p.Asp525Glu Single submitter hypercholesterolemia, familial, 1 ⚠
p.Asp569Tyr Single submitter Cardiovascular phenotype ⚠
p.Asp579Asn Single submitter Cardiovascular phenotype ⚠
p.Asp57del Single submitter familial hypercholesterolemia
p.Asp601His Single submitter Cardiovascular phenotype
p.Asp622Ala Single submitter familial hypercholesterolemia ⚠
p.Asp622Gly Single submitter Cardiovascular phenotype ⚠
p.Asp622His Single submitter familial hypercholesterolemia ⚠
p.Asp700= Single submitter hypercholesterolemia, familial, 1
p.Asp748Asn Single submitter Cardiovascular phenotype ⚠
p.Asp774Asn Single submitter Cardiovascular phenotype ⚠
p.Cys116Tyr Single submitter familial hypercholesterolemia ⚠
p.Cys128Gly Single submitter Cardiovascular phenotype ⚠
p.Cys134Gly Single submitter familial hypercholesterolemia ⚠
p.Cys167Ser Single submitter familial hypercholesterolemia ⚠
p.Cys216Phe Single submitter hypercholesterolemia, familial, 1 ⚠
p.Cys231= Single submitter hypercholesterolemia, familial, 1
p.Cys255Gly Single submitter hypercholesterolemia, familial, 1 ⚠
p.Cys261= Single submitter hypercholesterolemia, familial, 1
p.Cys261Arg Single submitter familial hypercholesterolemia ⚠
p.Cys261Tyr Single submitter familial hypercholesterolemia ⚠
p.Cys270Arg Single submitter hypercholesterolemia, familial, 1 ⚠
p.Cys27Tyr Single submitter familial hypercholesterolemia ⚠
p.Cys296Ser Single submitter familial hypercholesterolemia ⚠
p.Cys296Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys313Trp Single submitter Cardiovascular phenotype ⚠
p.Cys392= Single submitter hypercholesterolemia, familial, 1
p.Cys39Arg Single submitter Cardiovascular phenotype ⚠
p.Cys52Tyr Single submitter hypercholesterolemia, familial, 1 ⚠
p.Cys63Gly Single submitter familial hypercholesterolemia ⚠
p.Cys681Ser Single submitter hypercholesterolemia, familial, 1 ⚠
p.Cys698Trp Single submitter Cardiovascular phenotype ⚠
p.Cys803_Leu808del Single submitter LDLR-related disorder
p.Gln125Lys Single submitter hypercholesterolemia, familial, 1 ⚠
p.Gln254Glu Single submitter hypercholesterolemia, familial, 1 ⚠
p.Gln254His Single submitter hypercholesterolemia, familial, 1 ⚠
p.Gln366_Asn370delinsHis Single submitter familial hypercholesterolemia
p.Gln366Arg Single submitter LDLR-related disorder ⚠
p.Gln378= Single submitter hypercholesterolemia, familial, 1
p.Gln474Glu Single submitter familial hypercholesterolemia ⚠
p.Gln660Arg Single submitter familial hypercholesterolemia ⚠
p.Gln660His Single submitter Cardiovascular phenotype ⚠
p.Gln851fs Single submitter Cardiovascular phenotype ⚠
p.Glu179Lys Single submitter Dyslipidemia ⚠
p.Glu201Gln Single submitter familial hypercholesterolemia ⚠
p.Glu267Ala Single submitter hypercholesterolemia, familial, 1 ⚠
p.Glu267Lys Single submitter hypercholesterolemia, familial, 1 ⚠
p.Glu277Lys Single submitter Cardiovascular phenotype ⚠
p.Glu337Asp Single submitter familial hypercholesterolemia ⚠
p.Glu337Gly Single submitter familial hypercholesterolemia ⚠
p.Glu337Lys Single submitter Cardiovascular phenotype ⚠
p.Glu372_Tyr375delinsAlaLeuAsn Single submitter hypercholesterolemia, familial, 1
p.Glu615Lys Single submitter familial hypercholesterolemia ⚠
p.Glu626Lys Single submitter familial hypercholesterolemia ⚠
p.Glu716Lys Single submitter familial hypercholesterolemia ⚠
p.Glu781Asp Single submitter familial hypercholesterolemia ⚠
p.Gly119Arg Single submitter familial hypercholesterolemia ⚠
p.Gly137Cys Single submitter familial hypercholesterolemia ⚠
p.Gly137Ser Single submitter familial hypercholesterolemia ⚠
p.Gly207= Single submitter Cardiovascular phenotype
p.Gly219_Pro220del Single submitter hypercholesterolemia, familial, 1
p.Gly219Asp Single submitter Cardiovascular phenotype ⚠
p.Gly314Arg Single submitter Cardiovascular phenotype ⚠
p.Gly382Val Single submitter Cardiovascular phenotype ⚠
p.Gly396Ala Single submitter familial hypercholesterolemia
p.Gly505= Single submitter hypercholesterolemia, familial, 1
p.Gly505Ala Single submitter LDLR-related disorder ⚠
p.Gly505Asp Single submitter hypercholesterolemia, familial, 1 ⚠
p.Gly516Ser Single submitter Cardiovascular phenotype ⚠
p.Gly529Arg Single submitter familial hypercholesterolemia ⚠
p.Gly529Asp Single submitter LDLR-related disorder ⚠
p.Gly549Ala Single submitter familial hypercholesterolemia ⚠
p.Gly676Ser Single submitter Cardiovascular phenotype ⚠
p.Gly754Trp Single submitter hypercholesterolemia, familial, 1 ⚠
p.Gly758Ala Single submitter Cardiovascular phenotype ⚠
p.His203= Single submitter familial hypercholesterolemia
p.His211Asp Single submitter familial hypercholesterolemia ⚠
p.His250= Single submitter Cardiovascular phenotype
p.His388_Ala391del Single submitter familial hypercholesterolemia
p.His485Arg Single submitter familial hypercholesterolemia ⚠
p.His485Gln Single submitter familial hypercholesterolemia ⚠
p.His607Asp Single submitter hypercholesterolemia, familial, 1 ⚠
p.His607Gln Single submitter familial hypercholesterolemia ⚠
p.His607Tyr Single submitter familial hypercholesterolemia ⚠
p.His656Tyr Single submitter hypercholesterolemia, familial, 1 ⚠
p.His769Gln Single submitter familial hypercholesterolemia ⚠
p.Ile210Asn Single submitter familial hypercholesterolemia ⚠
p.Ile249Thr Single submitter familial hypercholesterolemia ⚠
p.Ile355= Single submitter Cardiovascular phenotype
p.Ile355Val Single submitter familial hypercholesterolemia ⚠
p.Ile423Met Single submitter Cardiovascular phenotype ⚠
p.Ile473Val Single submitter hypercholesterolemia, familial, 1 ⚠
p.Ile560Phe Single submitter hypercholesterolemia, familial, 1 ⚠
p.Ile628Thr Single submitter Cardiovascular phenotype ⚠
p.Ile687Phe Single submitter familial hypercholesterolemia ⚠
p.Leu205Val Single submitter hypercholesterolemia, familial, 1 ⚠
p.Leu339Pro Single submitter Cardiovascular phenotype ⚠
p.Leu401His Single submitter Cardiovascular phenotype ⚠
p.Leu422Pro Single submitter familial hypercholesterolemia ⚠
p.Leu432Val Single submitter Cardiovascular phenotype ⚠
p.Leu575Phe Single submitter Cardiovascular phenotype ⚠
p.Leu575Pro Single submitter Cardiovascular phenotype ⚠
p.Leu582Phe Single submitter Dyslipidemia ⚠
p.Leu64= Single submitter familial hypercholesterolemia
p.Leu646Ile Single submitter Cardiovascular phenotype ⚠
p.Leu682Pro Single submitter Cardiovascular phenotype ⚠
p.Leu799= Single submitter hypercholesterolemia, familial, 1
p.Leu799del Single submitter hypercholesterolemia, familial, 1
p.Leu804= Single submitter Cardiovascular phenotype
p.Lys393Asn Single submitter hypercholesterolemia, familial, 1 ⚠
p.Lys504Glu Single submitter Cardiovascular phenotype ⚠
p.Lys507Glu Single submitter familial hypercholesterolemia
p.Lys693= Single submitter hypercholesterolemia, familial, 1
p.Met531Arg Single submitter Cardiovascular phenotype ⚠
p.Met531Thr Single submitter hypercholesterolemia, familial, 1 ⚠
p.Met531Val Single submitter familial hypercholesterolemia ⚠
p.Met767Ile Single submitter Cardiovascular phenotype ⚠
p.Phe200Cys Single submitter LDLR-related disorder ⚠
p.Phe200Ile Single submitter hypercholesterolemia, familial, 1 ⚠
p.Phe202Ser Single submitter familial hypercholesterolemia ⚠
p.Phe241Ser Single submitter LDLR-related disorder ⚠
p.Phe32Ser Single submitter familial hypercholesterolemia ⚠
p.Phe403Leu Single submitter Cardiovascular phenotype ⚠
p.Phe629Val Single submitter hypercholesterolemia, familial, 1 ⚠
p.Phe73Cys Single submitter familial hypercholesterolemia ⚠
p.Pro105Ser Single submitter Cardiovascular phenotype ⚠
p.Pro162Leu Single submitter familial hypercholesterolemia ⚠
p.Pro181= Single submitter familial hypercholesterolemia
p.Pro309His Single submitter familial hypercholesterolemia ⚠
p.Pro476Leu Single submitter familial hypercholesterolemia ⚠
p.Pro563His Single submitter Cardiovascular phenotype ⚠
p.Pro608Thr Single submitter familial hypercholesterolemia ⚠
p.Pro685= Single submitter Cardiovascular phenotype
p.Pro699Ser Single submitter familial hypercholesterolemia ⚠
p.Pro795His Single submitter hypercholesterolemia, familial, 1 ⚠
p.Pro826Thr Single submitter Cardiovascular phenotype ⚠
p.Ser123Pro Single submitter Dyslipidemia ⚠
p.Ser130Pro Single submitter familial hypercholesterolemia ⚠
p.Ser130Thr Single submitter familial hypercholesterolemia ⚠
p.Ser157Asn Single submitter familial hypercholesterolemia ⚠
p.Ser177Trp Single submitter hypercholesterolemia, familial, 1 ⚠
p.Ser195Asn Single submitter Cardiovascular phenotype ⚠
p.Ser213Thr Single submitter familial hypercholesterolemia ⚠
p.Ser226Phe Single submitter Cardiovascular phenotype ⚠
p.Ser265Cys Single submitter familial hypercholesterolemia ⚠
p.Ser286= Single submitter familial hypercholesterolemia
p.Ser286Gly Single submitter familial hypercholesterolemia ⚠
p.Ser417= Single submitter familial hypercholesterolemia
p.Ser421Arg Single submitter familial hypercholesterolemia
p.Ser444Pro Single submitter familial hypercholesterolemia ⚠
p.Ser447Cys Single submitter Cardiovascular phenotype ⚠
p.Ser470Cys Single submitter familial hypercholesterolemia
p.Ser470Gly Single submitter familial hypercholesterolemia ⚠
p.Ser517Pro Single submitter hypercholesterolemia, familial, 1 ⚠
p.Ser56Phe Single submitter familial hypercholesterolemia ⚠
p.Ser580Thr Single submitter familial hypercholesterolemia ⚠
p.Ser610Phe Single submitter Cardiovascular phenotype ⚠
p.Ser691Leu Single submitter Cardiovascular phenotype ⚠
p.Ser786= Single submitter hypercholesterolemia, familial, 1
p.Ser786Cys Single submitter familial hypercholesterolemia ⚠
p.Ser849Leu Single submitter familial hypercholesterolemia ⚠
p.Thr389Met Single submitter Cardiovascular phenotype ⚠
p.Thr413Arg Single submitter familial hypercholesterolemia ⚠
p.Thr467Ile Single submitter familial hypercholesterolemia ⚠
p.Thr491Asn Single submitter Cardiovascular phenotype ⚠
p.Thr497Pro Single submitter familial hypercholesterolemia ⚠
p.Thr534_Trp536del Single submitter familial hypercholesterolemia
p.Thr534Asn Single submitter hypercholesterolemia, familial, 1 ⚠
p.Thr538Ser Single submitter hypercholesterolemia, familial, 1 ⚠
p.Thr62= Single submitter familial hypercholesterolemia
p.Thr621Ile Single submitter Cardiovascular phenotype ⚠
p.Thr635Ile Single submitter familial hypercholesterolemia ⚠
p.Thr724Ile Single submitter Cardiovascular phenotype ⚠
p.Thr761Met Single submitter Cardiovascular phenotype ⚠
p.Trp536Cys Single submitter Cardiovascular phenotype ⚠
p.Trp562Cys Single submitter hypercholesterolemia, familial, 1 ⚠
p.Trp562dup Single submitter Cardiovascular phenotype
p.Trp577Cys Single submitter LDLR-related disorder ⚠
p.Trp620Cys Single submitter familial hypercholesterolemia ⚠
p.Trp620Ser Single submitter familial hypercholesterolemia ⚠
p.Tyr336Cys Single submitter familial hypercholesterolemia ⚠

Benign 82

c.1060+10G>C Expert panel hypercholesterolemia, familial, 1
c.1061-8T>C Expert panel hypercholesterolemia, familial, 1
c.1586+16G>A Expert panel hypercholesterolemia, familial, 1
c.2140+5G>A Expert panel hypercholesterolemia, familial, 1
c.2389+41C>A Expert panel hypercholesterolemia, familial, 1
c.940+9C>T Expert panel hypercholesterolemia, familial, 1
c.941-39C>T Expert panel hypercholesterolemia, familial, 1
c.941-4G>A Expert panel hypercholesterolemia, familial, 1
c.*13A>G Expert panel hypercholesterolemia, familial, 1
p.Ala391Thr Expert panel hypercholesterolemia, familial, 1
p.Asn640= Expert panel hypercholesterolemia, familial, 1
p.Asp342Asn Expert panel hypercholesterolemia, familial, 1
p.Cys352= Expert panel hypercholesterolemia, familial, 1
p.Gly20Arg Expert panel hypercholesterolemia, familial, 1
p.Gly324Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr726Ile Expert panel hypercholesterolemia, familial, 1
c.1061-143C>T Multiple submitters familial hypercholesterolemia
c.1187-25C>T Multiple submitters familial hypercholesterolemia
c.1358+32C>T Multiple submitters familial hypercholesterolemia
c.1359-30C>T Multiple submitters Cardiovascular phenotype
c.1586+154A>G Multiple submitters
c.1586+53A>G Multiple submitters hypercholesterolemia, familial, 1
c.1705+182C>T Multiple submitters hypercholesterolemia, familial, 1
c.1705+209C>T Multiple submitters hypercholesterolemia, familial, 1
c.1706-55A>C Multiple submitters hypercholesterolemia, familial, 1
c.1706-69G>T Multiple submitters hypercholesterolemia, familial, 1
c.2312-47G>A Multiple submitters hypercholesterolemia, familial, 1
c.2389+46C>T Multiple submitters hypercholesterolemia, familial, 1
c.2389+47G>A Multiple submitters hypercholesterolemia, familial, 1
c.2548-147G>A Multiple submitters hypercholesterolemia, familial, 1
c.2548-177G>A Multiple submitters
c.2548-42A>G Multiple submitters hypercholesterolemia, familial, 1
c.2548-80G>A Multiple submitters hypercholesterolemia, familial, 1
c.314-50T>C Multiple submitters hypercholesterolemia, familial, 1
c.67+184C>G Multiple submitters
c.67+833T>C Multiple submitters familial hypercholesterolemia
c.940+36G>A Multiple submitters hypercholesterolemia, familial, 1
c.*1168G>A Multiple submitters hypercholesterolemia, familial, 1
c.*1217C>G Multiple submitters hypercholesterolemia, familial, 1
c.*1262T>C Multiple submitters hypercholesterolemia, familial, 1
c.*1268C>T Multiple submitters hypercholesterolemia, familial, 1
c.*1336C>G Multiple submitters hypercholesterolemia, familial, 1
c.*1340C>A Multiple submitters hypercholesterolemia, familial, 1
c.*1354T>C Multiple submitters hypercholesterolemia, familial, 1
c.*1376T>C Multiple submitters hypercholesterolemia, familial, 1
c.*1419C>A Multiple submitters hypercholesterolemia, familial, 1
c.*1430C>T Multiple submitters hypercholesterolemia, familial, 1
c.*1453A>G Multiple submitters hypercholesterolemia, familial, 1
c.*1510T>C Multiple submitters hypercholesterolemia, familial, 1
c.*1600G>T Multiple submitters hypercholesterolemia, familial, 1
c.*1743C>T Multiple submitters hypercholesterolemia, familial, 1
c.*2016G>A Multiple submitters hypercholesterolemia, familial, 1
c.*2196TA[7] Multiple submitters hypercholesterolemia, familial, 1
p.Arg471= Multiple submitters Cardiovascular phenotype
p.Arg744= Multiple submitters Cardiovascular phenotype
p.Cys27= Multiple submitters Cardiovascular phenotype
c.1060+109T>G Single submitter hypercholesterolemia, familial, 1
c.1845+157del Single submitter
c.1988-3dup Single submitter familial hypercholesterolemia
c.2141-180del Single submitter
c.2389+214C>T Single submitter
c.67+1051C>T Single submitter
c.67+998G>T Single submitter
c.694+24dup Single submitter familial hypercholesterolemia
c.940+171G>A Single submitter
c.-2038C>T Single submitter hypercholesterolemia, familial, 1
c.*1332G>A Single submitter hypercholesterolemia, familial, 1
c.*2196TA[10] Single submitter
c.*717G>A Single submitter familial hypercholesterolemia
c.*982G>C Single submitter hypercholesterolemia, familial, 1
c.1061-8T>A No assertion criteria hypercholesterolemia, familial, 1
c.1186+106G>A No assertion criteria hypercholesterolemia, familial, 1
c.1187-48A>G No assertion criteria hypercholesterolemia, familial, 1
c.191-50C>T No assertion criteria hypercholesterolemia, familial, 1
c.1987+47G>A No assertion criteria hypercholesterolemia, familial, 1
c.2141-89G>A No assertion criteria hypercholesterolemia, familial, 1
c.68-79G>T No assertion criteria hypercholesterolemia, familial, 1
p.Arg115= No assertion criteria hypercholesterolemia, familial, 1
p.Arg183His No assertion criteria hypercholesterolemia, familial, 1
p.Gly246= No assertion criteria hypercholesterolemia, familial, 1
p.Gly754Arg No assertion criteria hypercholesterolemia, familial, 1
p.Ser142= No assertion criteria hypercholesterolemia, familial, 1

Benign/Likely benign 45

c.1060+40G>A Multiple submitters familial hypercholesterolemia
c.1187-3dup Multiple submitters familial hypercholesterolemia
c.1705+18C>A Multiple submitters Cardiovascular phenotype
c.1705+20G>A Multiple submitters Cardiovascular phenotype
c.1705+56C>T Multiple submitters hypercholesterolemia, familial, 1
c.1705+9G>A Multiple submitters Cardiovascular phenotype
c.190+56G>A Multiple submitters hypercholesterolemia, familial, 1
c.1987+19C>T Multiple submitters familial hypercholesterolemia
c.2312-136A>G Multiple submitters hypercholesterolemia, familial, 1
c.2389+57C>T Multiple submitters hypercholesterolemia, familial, 1
c.2390-16G>A Multiple submitters Cardiovascular phenotype
c.67+18C>A Multiple submitters Cardiovascular phenotype
c.694+9G>A Multiple submitters Cardiovascular phenotype
c.818-15C>G Multiple submitters familial hypercholesterolemia
c.-268G>T Multiple submitters familial hypercholesterolemia
c.*1417A>C Multiple submitters hypercholesterolemia, familial, 1
c.*141G>A Multiple submitters familial hypercholesterolemia
c.*1550A>T Multiple submitters hypercholesterolemia, familial, 1
c.*1960C>T Multiple submitters hypercholesterolemia, familial, 1
c.*2111G>A Multiple submitters hypercholesterolemia, familial, 1
c.*315G>C Multiple submitters familial hypercholesterolemia
c.*504G>A Multiple submitters familial hypercholesterolemia
c.*517C>A Multiple submitters familial hypercholesterolemia
c.*52G>A Multiple submitters familial hypercholesterolemia
c.*666T>C Multiple submitters familial hypercholesterolemia
c.*773A>G Multiple submitters familial hypercholesterolemia
c.*803C>T Multiple submitters hypercholesterolemia, familial, 1
c.*965C>T Multiple submitters hypercholesterolemia, familial, 1
p.Asn515= Multiple submitters Cardiovascular phenotype
p.Asn591= Multiple submitters Cardiovascular phenotype
p.Asn97= Multiple submitters Cardiovascular phenotype
p.Asp331= Multiple submitters hypercholesterolemia, familial, 1
p.Cys276= Multiple submitters Cardiovascular phenotype
p.Glu763Asp Multiple submitters Cardiovascular phenotype
p.Gly149= Multiple submitters Cardiovascular phenotype
p.Gly55= Multiple submitters hypercholesterolemia, familial, 1
p.Ile334= Multiple submitters hypercholesterolemia, familial, 1
p.Ile588= Multiple submitters familial hypercholesterolemia
p.Leu575= Multiple submitters Cardiovascular phenotype
p.Phe629= Multiple submitters Cardiovascular phenotype
p.Pro539= Multiple submitters Cardiovascular phenotype
p.Thr434= Multiple submitters Cardiovascular phenotype
p.Thr659= Multiple submitters Cardiovascular phenotype
p.Val653= Multiple submitters Cardiovascular phenotype
p.Val800Ile Multiple submitters Cardiovascular phenotype

Likely benign 795

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

c.1706-10G>A Expert panel hypercholesterolemia, familial, 1
c.1846-10G>T Expert panel hypercholesterolemia, familial, 1
c.817+9T>C Expert panel hypercholesterolemia, familial, 1
p.Ala166= Expert panel hypercholesterolemia, familial, 1
p.Ala612= Expert panel hypercholesterolemia, familial, 1
p.Arg427= Expert panel hypercholesterolemia, familial, 1
p.Arg751Trp Expert panel hypercholesterolemia, familial, 1
p.Asn169= Expert panel hypercholesterolemia, familial, 1
p.Asn230= Expert panel hypercholesterolemia, familial, 1
p.Asn625= Expert panel hypercholesterolemia, familial, 1
p.Gly269Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly461= Expert panel hypercholesterolemia, familial, 1
p.Ile398= Expert panel hypercholesterolemia, familial, 1
p.Ile764Thr Expert panel hypercholesterolemia, familial, 1
p.Leu16= Expert panel hypercholesterolemia, familial, 1
p.Thr389= Expert panel hypercholesterolemia, familial, 1
p.Tyr188= Expert panel hypercholesterolemia, familial, 1
p.Val395= Expert panel hypercholesterolemia, familial, 1
p.Val859Met Expert panel hypercholesterolemia, familial, 1
c.1060+10_1060+11delinsCA Multiple submitters familial hypercholesterolemia
c.1060+18C>A Multiple submitters familial hypercholesterolemia
c.1061-9C>G Multiple submitters familial hypercholesterolemia
c.1186+10G>C Multiple submitters Cardiovascular phenotype
c.1186+11G>A Multiple submitters familial hypercholesterolemia
c.1186+15G>T Multiple submitters Cardiovascular phenotype
c.1186+19C>T Multiple submitters Cardiovascular phenotype
c.1186+6C>T Multiple submitters familial hypercholesterolemia
c.1187-11C>T Multiple submitters familial hypercholesterolemia
c.1187-14C>T Multiple submitters familial hypercholesterolemia
c.1187-17G>A Multiple submitters familial hypercholesterolemia
c.1187-9G>C Multiple submitters familial hypercholesterolemia
c.1358+7_1358+24del Multiple submitters Cardiovascular phenotype
c.1358+9C>T Multiple submitters familial hypercholesterolemia
c.1359-10C>T Multiple submitters familial hypercholesterolemia
c.1359-13C>T Multiple submitters Cardiovascular phenotype
c.1359-14T>G Multiple submitters familial hypercholesterolemia
c.1359-29G>A Multiple submitters Cardiovascular phenotype
c.1359-29G>C Multiple submitters hypercholesterolemia, familial, 1
c.1359-30_1359-28delinsTGA Multiple submitters familial hypercholesterolemia
c.1586+13G>A Multiple submitters familial hypercholesterolemia
c.1586+19G>A Multiple submitters familial hypercholesterolemia
c.1587-10C>T Multiple submitters familial hypercholesterolemia
c.1587-4C>T Multiple submitters familial hypercholesterolemia
c.1705+9G>T Multiple submitters familial hypercholesterolemia
c.1706-21_1706-19del Multiple submitters Cardiovascular phenotype
c.1706-5T>A Multiple submitters familial hypercholesterolemia
c.1846-10G>A Multiple submitters hypercholesterolemia, familial, 1
c.1846-15T>C Multiple submitters familial hypercholesterolemia
c.1846-7T>C Multiple submitters hypercholesterolemia, familial, 1
c.1846-8C>T Multiple submitters familial hypercholesterolemia
c.191-15C>A Multiple submitters familial hypercholesterolemia
c.1987+14A>C Multiple submitters familial hypercholesterolemia
c.1987+27dup Multiple submitters Cardiovascular phenotype
c.1988-13T>C Multiple submitters familial hypercholesterolemia
c.1988-16G>A Multiple submitters Cardiovascular phenotype
c.1988-17C>T Multiple submitters familial hypercholesterolemia
c.1988-19T>C Multiple submitters Cardiovascular phenotype
c.1988-4C>T Multiple submitters familial hypercholesterolemia
c.1988-7G>A Multiple submitters familial hypercholesterolemia
c.2140+11C>T Multiple submitters familial hypercholesterolemia
c.2140+12G>A Multiple submitters familial hypercholesterolemia
c.2140+13C>T Multiple submitters familial hypercholesterolemia
c.2140+15T>C Multiple submitters Cardiovascular phenotype
c.2140+86C>T Multiple submitters familial hypercholesterolemia
c.2140+9C>T Multiple submitters familial hypercholesterolemia
c.2141-9T>C Multiple submitters familial hypercholesterolemia
c.2312-14C>A Multiple submitters hypercholesterolemia, familial, 1
c.2312-6C>T Multiple submitters hypercholesterolemia, familial, 1
c.2389+13C>T Multiple submitters familial hypercholesterolemia
c.2389+18C>A Multiple submitters Cardiovascular phenotype
c.2389+23G>A Multiple submitters hypercholesterolemia, familial, 1
c.2389+24_2389+33dup Multiple submitters Cardiovascular phenotype
c.2389+9G>A Multiple submitters familial hypercholesterolemia
c.2390-17C>T Multiple submitters familial hypercholesterolemia
c.2547+17A>G Multiple submitters familial hypercholesterolemia
c.2548-15A>G Multiple submitters familial hypercholesterolemia
c.2548-8G>C Multiple submitters familial hypercholesterolemia
c.313+69C>T Multiple submitters hypercholesterolemia, familial, 1
c.314-16C>G Multiple submitters Cardiovascular phenotype
c.68-11C>T Multiple submitters familial hypercholesterolemia
c.68-4T>C Multiple submitters familial hypercholesterolemia
c.68-8T>C Multiple submitters familial hypercholesterolemia
c.68-9C>G Multiple submitters familial hypercholesterolemia
c.694+12G>A Multiple submitters Cardiovascular phenotype
c.694+15A>T Multiple submitters familial hypercholesterolemia
c.694+7G>A Multiple submitters familial hypercholesterolemia
c.695-10T>C Multiple submitters familial hypercholesterolemia
c.695-13T>C Multiple submitters familial hypercholesterolemia
c.695-9G>A Multiple submitters familial hypercholesterolemia
c.817+7G>T Multiple submitters familial hypercholesterolemia
c.818-13C>T Multiple submitters familial hypercholesterolemia
c.818-3C>T Multiple submitters hypercholesterolemia, familial, 1
c.818-5C>T Multiple submitters familial hypercholesterolemia
c.940+10G>A Multiple submitters Cardiovascular phenotype
c.940+18C>T Multiple submitters familial hypercholesterolemia
c.941-10C>T Multiple submitters familial hypercholesterolemia
c.941-14C>T Multiple submitters familial hypercholesterolemia
c.941-15C>T Multiple submitters familial hypercholesterolemia
c.941-5C>T Multiple submitters familial hypercholesterolemia
c.941-7T>C Multiple submitters familial hypercholesterolemia
c.*1377G>A Multiple submitters hypercholesterolemia, familial, 1
c.*223G>A Multiple submitters hypercholesterolemia, familial, 1
c.*338G>A Multiple submitters hypercholesterolemia, familial, 1
p.Ala199= Multiple submitters familial hypercholesterolemia
p.Ala391= Multiple submitters familial hypercholesterolemia
p.Ala399= Multiple submitters familial hypercholesterolemia
p.Ala459= Multiple submitters familial hypercholesterolemia
p.Ala480= Multiple submitters familial hypercholesterolemia
p.Ala50= Multiple submitters Cardiovascular phenotype
p.Ala627= Multiple submitters familial hypercholesterolemia
p.Ala643= Multiple submitters familial hypercholesterolemia
p.Ala684= Multiple submitters Cardiovascular phenotype
p.Ala718= Multiple submitters familial hypercholesterolemia
p.Ala755= Multiple submitters familial hypercholesterolemia
p.Ala776= Multiple submitters Cardiovascular phenotype
p.Arg185= Multiple submitters familial hypercholesterolemia
p.Arg237= Multiple submitters hypercholesterolemia, familial, 1
p.Arg350= Multiple submitters familial hypercholesterolemia
p.Arg410= Multiple submitters familial hypercholesterolemia
p.Arg669= Multiple submitters familial hypercholesterolemia
p.Arg9= Multiple submitters familial hypercholesterolemia
p.Asn316= Multiple submitters familial hypercholesterolemia
p.Asn322= Multiple submitters Cardiovascular phenotype
p.Asn425= Multiple submitters familial hypercholesterolemia
p.Asn428= Multiple submitters Cardiovascular phenotype
p.Asn564= Multiple submitters hypercholesterolemia, familial, 1
p.Asn674= Multiple submitters hypercholesterolemia, familial, 1
p.Asn688= Multiple submitters Cardiovascular phenotype
p.Asp100= Multiple submitters Cardiovascular phenotype
p.Asp112= Multiple submitters Cardiovascular phenotype
p.Asp118= Multiple submitters familial hypercholesterolemia
p.Asp133= Multiple submitters familial hypercholesterolemia
p.Asp136= Multiple submitters familial hypercholesterolemia
p.Asp139= Multiple submitters familial hypercholesterolemia
p.Asp175= Multiple submitters Cardiovascular phenotype
p.Asp217= Multiple submitters hypercholesterolemia, familial, 1
p.Asp227= Multiple submitters hypercholesterolemia, familial, 1
p.Asp239= Multiple submitters familial hypercholesterolemia
p.Asp342= Multiple submitters Cardiovascular phenotype
p.Asp36= Multiple submitters Cardiovascular phenotype
p.Asp445= Multiple submitters Cardiovascular phenotype
p.Asp457= Multiple submitters familial hypercholesterolemia
p.Asp466= Multiple submitters familial hypercholesterolemia
p.Asp472= Multiple submitters Cardiovascular phenotype
p.Asp477= Multiple submitters Cardiovascular phenotype
p.Asp551= Multiple submitters Cardiovascular phenotype
p.Asp57= Multiple submitters familial hypercholesterolemia
p.Asp589= Multiple submitters familial hypercholesterolemia
p.Asp616= Multiple submitters Cardiovascular phenotype
p.Asp748= Multiple submitters familial hypercholesterolemia
p.Asp774= Multiple submitters hypercholesterolemia, familial, 1
p.Asp824= Multiple submitters familial hypercholesterolemia
p.Asp843= Multiple submitters Cardiovascular phenotype
p.Asp858= Multiple submitters Cardiovascular phenotype
p.Asp90= Multiple submitters Cardiovascular phenotype
p.Cys134= Multiple submitters familial hypercholesterolemia
p.Cys167= Multiple submitters Cardiovascular phenotype
p.Cys243= Multiple submitters familial hypercholesterolemia
p.Cys270= Multiple submitters Cardiovascular phenotype
p.Cys313= Multiple submitters Cardiovascular phenotype
p.Cys338= Multiple submitters familial hypercholesterolemia
p.Cys34= Multiple submitters familial hypercholesterolemia
p.Cys340= Multiple submitters familial hypercholesterolemia
p.Cys368= Multiple submitters familial hypercholesterolemia
p.Cys377= Multiple submitters familial hypercholesterolemia
p.Cys452= Multiple submitters familial hypercholesterolemia
p.Cys46= Multiple submitters Cardiovascular phenotype
p.Cys696= Multiple submitters Cardiovascular phenotype
p.Cys75= Multiple submitters familial hypercholesterolemia
p.Cys803= Multiple submitters hypercholesterolemia, familial, 1
p.Cys89= Multiple submitters Cardiovascular phenotype
p.Cys95= Multiple submitters familial hypercholesterolemia
p.Gln125= Multiple submitters hypercholesterolemia, familial, 1
p.Gln242= Multiple submitters Cardiovascular phenotype
p.Gln254= Multiple submitters hypercholesterolemia, familial, 1
p.Gln349= Multiple submitters familial hypercholesterolemia
p.Gln35= Multiple submitters Cardiovascular phenotype
p.Gln561= Multiple submitters Cardiovascular phenotype
p.Gln660= Multiple submitters familial hypercholesterolemia
p.Glu101= Multiple submitters familial hypercholesterolemia
p.Glu201= Multiple submitters familial hypercholesterolemia
p.Glu228= Multiple submitters Cardiovascular phenotype
p.Glu240= Multiple submitters Cardiovascular phenotype
p.Glu258= Multiple submitters hypercholesterolemia, familial, 1
p.Glu308= Multiple submitters Cardiovascular phenotype
p.Glu312= Multiple submitters familial hypercholesterolemia
p.Glu317= Multiple submitters familial hypercholesterolemia
p.Glu380= Multiple submitters familial hypercholesterolemia
p.Glu381= Multiple submitters familial hypercholesterolemia
p.Glu408= Multiple submitters Cardiovascular phenotype
p.Glu418= Multiple submitters familial hypercholesterolemia
p.Glu61= Multiple submitters Cardiovascular phenotype
p.Glu650= Multiple submitters Cardiovascular phenotype
p.Glu668= Multiple submitters familial hypercholesterolemia
p.Glu716= Multiple submitters Cardiovascular phenotype
p.Gly20= Multiple submitters hypercholesterolemia, familial, 1
p.Gly24= Multiple submitters Cardiovascular phenotype
p.Gly251= Multiple submitters Cardiovascular phenotype
p.Gly269= Multiple submitters Cardiovascular phenotype
p.Gly287= Multiple submitters familial hypercholesterolemia
p.Gly323= Multiple submitters Cardiovascular phenotype
p.Gly382= Multiple submitters Cardiovascular phenotype
p.Gly396= Multiple submitters familial hypercholesterolemia
p.Gly48= Multiple submitters familial hypercholesterolemia
p.Gly545= Multiple submitters Cardiovascular phenotype
p.Gly546= Multiple submitters familial hypercholesterolemia
p.Gly592= Multiple submitters familial hypercholesterolemia
p.Gly675= Multiple submitters Cardiovascular phenotype
p.Gly758= Multiple submitters familial hypercholesterolemia
p.Gly76= Multiple submitters familial hypercholesterolemia
p.Gly77= Multiple submitters familial hypercholesterolemia
p.Gly773= Multiple submitters familial hypercholesterolemia
p.His117= Multiple submitters familial hypercholesterolemia
p.His327= Multiple submitters hypercholesterolemia, familial, 1
p.His388= Multiple submitters hypercholesterolemia, familial, 1
p.His460= Multiple submitters hypercholesterolemia, familial, 1
p.His840= Multiple submitters Cardiovascular phenotype
p.Ile122= Multiple submitters Cardiovascular phenotype
p.Ile161= Multiple submitters familial hypercholesterolemia
p.Ile469= Multiple submitters familial hypercholesterolemia
p.Ile522= Multiple submitters Cardiovascular phenotype
p.Ile623= Multiple submitters hypercholesterolemia, familial, 1
p.Ile792= Multiple submitters Cardiovascular phenotype
p.Leu292= Multiple submitters Cardiovascular phenotype
p.Leu346= Multiple submitters familial hypercholesterolemia
p.Leu385= Multiple submitters familial hypercholesterolemia
p.Leu401= Multiple submitters familial hypercholesterolemia
p.Leu414= Multiple submitters familial hypercholesterolemia
p.Leu456= Multiple submitters familial hypercholesterolemia
p.Leu555= Multiple submitters Cardiovascular phenotype
p.Leu568= Multiple submitters Cardiovascular phenotype
p.Leu570= Multiple submitters familial hypercholesterolemia
p.Leu571= Multiple submitters hypercholesterolemia, familial, 1
p.Leu611= Multiple submitters familial hypercholesterolemia
p.Leu654= Multiple submitters familial hypercholesterolemia
p.Leu658= Multiple submitters Cardiovascular phenotype
p.Leu704= Multiple submitters familial hypercholesterolemia
p.Leu759= Multiple submitters Cardiovascular phenotype
p.Leu794= Multiple submitters Cardiovascular phenotype
p.Leu798= Multiple submitters familial hypercholesterolemia
p.Lys43= Multiple submitters familial hypercholesterolemia
p.Lys544= Multiple submitters familial hypercholesterolemia
p.Lys596= Multiple submitters familial hypercholesterolemia
p.Lys730= Multiple submitters familial hypercholesterolemia
p.Lys783= Multiple submitters Cardiovascular phenotype
p.Phe126= Multiple submitters Cardiovascular phenotype
p.Phe200= Multiple submitters familial hypercholesterolemia
p.Phe32= Multiple submitters hypercholesterolemia, familial, 1
p.Phe403= Multiple submitters familial hypercholesterolemia
p.Phe823= Multiple submitters familial hypercholesterolemia
p.Pro106= Multiple submitters familial hypercholesterolemia
p.Pro144= Multiple submitters familial hypercholesterolemia
p.Pro150= Multiple submitters Cardiovascular phenotype
p.Pro171= Multiple submitters familial hypercholesterolemia
p.Pro196= Multiple submitters Cardiovascular phenotype
p.Pro220= Multiple submitters Cardiovascular phenotype
p.Pro3= Multiple submitters familial hypercholesterolemia
p.Pro341= Multiple submitters Cardiovascular phenotype
p.Pro361= Multiple submitters Cardiovascular phenotype
p.Pro424= Multiple submitters familial hypercholesterolemia
p.Pro699= Multiple submitters familial hypercholesterolemia
p.Pro747= Multiple submitters familial hypercholesterolemia
p.Pro784= Multiple submitters familial hypercholesterolemia
p.Ser123= Multiple submitters Cardiovascular phenotype
p.Ser158= Multiple submitters familial hypercholesterolemia
p.Ser177= Multiple submitters familial hypercholesterolemia
p.Ser195= Multiple submitters hypercholesterolemia, familial, 1
p.Ser198= Multiple submitters familial hypercholesterolemia
p.Ser212= Multiple submitters Cardiovascular phenotype
p.Ser226= Multiple submitters familial hypercholesterolemia
p.Ser265= Multiple submitters familial hypercholesterolemia
p.Ser326= Multiple submitters familial hypercholesterolemia
p.Ser421= Multiple submitters familial hypercholesterolemia
p.Ser438= Multiple submitters Cardiovascular phenotype
p.Ser464= Multiple submitters familial hypercholesterolemia
p.Ser49= Multiple submitters Cardiovascular phenotype
p.Ser554= Multiple submitters familial hypercholesterolemia
p.Ser572Asn Multiple submitters hypercholesterolemia, familial, 1
p.Ser584= Multiple submitters familial hypercholesterolemia
p.Ser586= Multiple submitters familial hypercholesterolemia
p.Ser587= Multiple submitters Cardiovascular phenotype
p.Ser648= Multiple submitters familial hypercholesterolemia
p.Ser691= Multiple submitters familial hypercholesterolemia
p.Ser70= Multiple submitters Cardiovascular phenotype
p.Ser750= Multiple submitters familial hypercholesterolemia
p.Ser785= Multiple submitters Cardiovascular phenotype
p.Ser791= Multiple submitters familial hypercholesterolemia
p.Ter861= Multiple submitters familial hypercholesterolemia
p.Thr108= Multiple submitters Cardiovascular phenotype
p.Thr147= Multiple submitters familial hypercholesterolemia
p.Thr159= Multiple submitters familial hypercholesterolemia
p.Thr291= Multiple submitters familial hypercholesterolemia
p.Thr454= Multiple submitters familial hypercholesterolemia
p.Thr467= Multiple submitters familial hypercholesterolemia
p.Thr491= Multiple submitters Cardiovascular phenotype
p.Thr497= Multiple submitters Cardiovascular phenotype
p.Thr510= Multiple submitters Cardiovascular phenotype
p.Thr557= Multiple submitters familial hypercholesterolemia
p.Thr597= Multiple submitters familial hypercholesterolemia
p.Thr671= Multiple submitters familial hypercholesterolemia

Uncertain significance 1117

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

c.1060+9C>T Expert panel hypercholesterolemia, familial, 1
c.1186+5G>C Expert panel hypercholesterolemia, familial, 1
c.1358+7G>A Expert panel hypercholesterolemia, familial, 1
c.1359-31_1359-23delinsCGGCT Expert panel hypercholesterolemia, familial, 1
c.1586+15C>T Expert panel hypercholesterolemia, familial, 1
c.1586+5G>A Expert panel hypercholesterolemia, familial, 1
c.1845+15C>A Expert panel hypercholesterolemia, familial, 1
c.1987+10G>T Expert panel hypercholesterolemia, familial, 1
c.1988-13T>G Expert panel hypercholesterolemia, familial, 1
c.1988-5C>G Expert panel hypercholesterolemia, familial, 1
c.2389+14G>A Expert panel hypercholesterolemia, familial, 1
c.2389+4A>G Expert panel hypercholesterolemia, familial, 1
c.2389+5G>A Expert panel hypercholesterolemia, familial, 1
c.2389+7G>A Expert panel hypercholesterolemia, familial, 1
c.2389+8C>T Expert panel hypercholesterolemia, familial, 1
c.2547+5G>C Expert panel hypercholesterolemia, familial, 1
c.2548-19G>A Expert panel hypercholesterolemia, familial, 1
c.313+6T>C Expert panel hypercholesterolemia, familial, 1
c.694+25C>T Expert panel hypercholesterolemia, familial, 1
c.-101T>C Expert panel hypercholesterolemia, familial, 1
c.-120C>T Expert panel hypercholesterolemia, familial, 1
c.-138T>C Expert panel hypercholesterolemia, familial, 1
c.-13A>G Expert panel hypercholesterolemia, familial, 1
c.-140C>A Expert panel hypercholesterolemia, familial, 1
c.-142C>G Expert panel hypercholesterolemia, familial, 1
c.-150A>G Expert panel hypercholesterolemia, familial, 1
c.-153C>T Expert panel hypercholesterolemia, familial, 1
c.-172G>A Expert panel hypercholesterolemia, familial, 1
c.-188C>T Expert panel hypercholesterolemia, familial, 1
c.-286C>G Expert panel hypercholesterolemia, familial, 1
c.-36T>G Expert panel hypercholesterolemia, familial, 1
p.Ala299Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala299Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala399Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala50Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala50Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala606Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala606Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala606Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala643Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala643Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala684Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala684Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala684Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala697Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala705Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala705Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala717Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ala717Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg115His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg237Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg237His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg253Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg253Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg253Trp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg257Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg257His Expert panel hypercholesterolemia, familial, 1
p.Arg257Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg257Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg300Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg303Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg303Trp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg350Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg471Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg574Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg574Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg709Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg709Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg744Gln Expert panel hypercholesterolemia, familial, 1
p.Arg751Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg78Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg78His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg814Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg814Trp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg81His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Arg81Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn297His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn297Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn297Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn425Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn425Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn428Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn428Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn487Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn80Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asn80Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp170Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp224_Lys225delinsPhe Expert panel hypercholesterolemia, familial, 1
p.Asp304His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp304Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp342Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp360Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp360His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp362Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp386Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp386Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp415Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp472Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp477Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp477Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp47Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp47His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp47Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp482Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp502Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp57Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp57Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp589Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp589His Expert panel hypercholesterolemia, familial, 1
p.Asp589Tyr Expert panel hypercholesterolemia, familial, 1
p.Asp651Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp700Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp707Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Asp707Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Cys160Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Cys222= Expert panel hypercholesterolemia, familial, 1
p.Cys302Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Cys63Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Cys63Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Cys803_Leu808dup Expert panel hypercholesterolemia, familial, 1
p.Gln102Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gln92Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu28Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu317Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu31Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu353Lys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu357Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu357Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu408Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu408Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu408Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Glu615= Expert panel hypercholesterolemia, familial, 1
p.Glu716Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly20Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly246Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly246Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly269Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly287Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly2Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly323Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly324Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly335Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly335Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly335Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly396Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly396Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly396Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly461Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly478Trp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly636Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly636Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly636Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly701Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly71Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly76Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly76Trp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly844Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly98Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly98Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly98Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Gly98Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.His285Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.His285Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.His285Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.His327Gln Expert panel hypercholesterolemia, familial, 1
p.His327Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.His327Tyr Expert panel hypercholesterolemia, familial, 1 ⚠
p.His407= Expert panel hypercholesterolemia, familial, 1
p.His656Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.His656Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile441Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile441Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile488Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile598Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile598Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile598Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile623Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile623Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile764Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile792Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile792Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ile796= Expert panel hypercholesterolemia, familial, 1
p.Ile83Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu15His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu164Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu16Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu16Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu385Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu385Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu385Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu414Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu456His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu456Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu456Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu479Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu479Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu547Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu599Trp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu654Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu654Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Leu680Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Lys311Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Lys311Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Lys518Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Lys518Glu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Lys816Asn Expert panel hypercholesterolemia, familial, 1
p.Lys816Gln Expert panel hypercholesterolemia, familial, 1 ⚠
p.Lys830Ter Expert panel hypercholesterolemia, familial, 1
p.Met652Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Met652Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Met702Ile Expert panel hypercholesterolemia, familial, 1
p.Phe282Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Phe282Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Phe530Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Phe530Val Expert panel hypercholesterolemia, familial, 1 ⚠
p.Phe609Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Phe86_Arg88del Expert panel hypercholesterolemia, familial, 1
p.Pro519Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro519Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro526Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro526His Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro526Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro526Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro526Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro649Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro649Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro661Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro661Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro699Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro84Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro84Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Pro84Ser Expert panel hypercholesterolemia, familial, 1
p.Ser244Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser326Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser397Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser397Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser397Thr Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser486Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser486Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser499Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser554Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser554Trp Expert panel hypercholesterolemia, familial, 1
p.Ser580Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser580Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser587Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser648Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser648Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser673Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Ser673Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr363Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr363Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr404Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr404Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr434Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr434Pro Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr510Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr62Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr62Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr659Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr742Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr742Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr766Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Thr766Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp305Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp305Ser Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp483Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp483Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp483Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Trp87Arg Expert panel hypercholesterolemia, familial, 1 ⚠
p.Tyr465Asn Expert panel hypercholesterolemia, familial, 1 ⚠
p.Tyr465Cys Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val271Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val468Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val468Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val481Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val506Leu Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val506Met Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val524Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val613Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val653Ala Expert panel hypercholesterolemia, familial, 1
p.Val653Gly Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val653Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val653Phe Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val775Ala Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val775Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val827Asp Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val827Ile Expert panel hypercholesterolemia, familial, 1 ⚠
p.Val827Phe Expert panel hypercholesterolemia, familial, 1 ⚠
c.1187-7C>A Multiple submitters Cardiovascular phenotype
c.1359-26_1359-23del Multiple submitters hypercholesterolemia, familial, 1
c.1586+4C>G Multiple submitters familial hypercholesterolemia
c.190+4_190+7del Multiple submitters familial hypercholesterolemia
c.2140+3G>A Multiple submitters Cardiovascular phenotype
c.2389+5G>C Multiple submitters Cardiovascular phenotype
c.2389+6C>T Multiple submitters hypercholesterolemia, familial, 1
c.2390-3C>G Multiple submitters
c.2549_2550del Multiple submitters familial hypercholesterolemia
c.67+5G>T Multiple submitters familial hypercholesterolemia
c.67+6G>T Multiple submitters familial hypercholesterolemia
c.817+5G>C Multiple submitters familial hypercholesterolemia