ABCA1 — 1822 ClinVar variants

All ClinVar germline ABCA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 666 flagged for review →

47 Pathogenic · 3 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 136 Conflicting · 188 Benign · 60 Benign/Likely benign · 701 Likely benign · 660 Uncertain significance

Full ABCA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 666

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 51

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

ABCA1 p.Ala1182Thr Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Ala594Thr Conflicting Single submitter
ABCA1 p.Arg1228Gln Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1303Gly Conflicting Single submitter
ABCA1 p.Arg1680Gln Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg1839His Conflicting Single submitter
ABCA1 p.Arg1925Gln Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg2200Gln Conflicting Single submitter
Tangier disease
ABCA1 p.Arg230His Conflicting Single submitter
ABCA1 p.Arg666Trp Conflicting Single submitter
Tangier disease
ABCA1 p.Asn1975Ile Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Asn820Ser Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1018Gly Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Asp1793Asn Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Asp446Glu Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Cys887Phe Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Gln205Lys Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1253Lys Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1276Arg Conflicting Single submitter
ABCA1 p.Gly1480Ala Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.His263Asp Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Ile1298Leu Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ile1749Val Conflicting Single submitter
Tangier disease
ABCA1 p.Ile35Val Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ile546Val Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Leu1041Val Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Leu184Ser Conflicting Single submitter
Tangier disease
ABCA1 p.Lys166Arg Conflicting Single submitter
Tangier disease
ABCA1 p.Met1012Ile Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Met968Thr Conflicting Single submitter
Tangier disease
ABCA1 p.Pro1284Leu Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Pro1547Leu Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Pro1878Thr Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ser107Ala Conflicting Single submitter
ABCA1 p.Ser1731Cys Conflicting Single submitter
Tangier disease
ABCA1 p.Ser2186Phe Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ser2234Leu Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ser296Thr Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Thr1399Ser Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Thr242Arg Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Thr774Pro Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Trp590Leu Conflicting Single submitter
ABCA1 p.Trp767Cys Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Val1096Ile Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Val1711Ile Conflicting Single submitter
ABCA1 p.Val1783Met Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Val2241Ile Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Val2244Ile Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Val464Met Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Val771Leu Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Val93Ile Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 349

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 349

ABCA1 p.Ala1739Thr Uncertain significance Multiple submitters
ABCA1 p.Arg1283Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Arg1342Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Arg634Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Asn2174Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Asp1099Tyr Uncertain significance Multiple submitters
ABCA1-related disorder
ABCA1 p.Asp1227Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Asp176Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Asp2232Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Glu1397Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Glu28Gln Uncertain significance Multiple submitters
hypercholesterolemia, familial, 1
ABCA1 p.Glu869Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.His550Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ile1911Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ile2141Val Uncertain significance Multiple submitters
ABCA1 p.Ile886Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Leu1362Phe Uncertain significance Multiple submitters
Tangier disease
ABCA1 p.Leu1716Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Leu1869Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Met1665Val Uncertain significance Multiple submitters
Tangier disease
ABCA1 p.Pro1425Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Pro1461Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ser684Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Thr1792Ala Uncertain significance Multiple submitters
ABCA1 p.Trp590Ser Uncertain significance Multiple submitters
Tangier disease
ABCA1 p.Tyr1729Cys Uncertain significance Multiple submitters
ABCA1 p.Tyr1921His Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val1476Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val1668Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val380Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ala1016Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1094Val Uncertain significance Single submitter
ABCA1 p.Ala109Thr Uncertain significance Single submitter
ABCA1 p.Ala1182Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1217Thr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1259Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1259Thr Uncertain significance Single submitter
ABCA1 p.Ala1274Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1291Val Uncertain significance Single submitter
ABCA1 p.Ala1462Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1494Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1631Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1647Thr Uncertain significance Single submitter
ABCA1 p.Ala1664Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1996Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala2058Val Uncertain significance Single submitter
ABCA1 p.Ala460Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala468Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala726Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala766Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala766Thr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala779Thr Uncertain significance Single submitter
ABCA1 p.Ala90Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala90Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1068Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg111Ser Uncertain significance Single submitter
ABCA1 p.Arg1272Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1272Lys Uncertain significance Single submitter
ABCA1 p.Arg1273Leu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1283His Uncertain significance Single submitter
ABCA1 p.Arg1572Gln Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1572Leu Uncertain significance Single submitter
ABCA1 p.Arg1817Gln Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg2051Cys Uncertain significance Single submitter
ABCA1 p.Arg227Gln Uncertain significance Single submitter
ABCA1 p.Arg230Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg282Gln Uncertain significance Single submitter
ABCA1 p.Arg43Gln Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg443Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg496Gln Uncertain significance Single submitter
ABCA1 p.Arg530Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg854Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn1406Lys Uncertain significance Single submitter
ABCA1 p.Asn1458Ser Uncertain significance Single submitter
ABCA1 p.Asn1610Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn1734Ser Uncertain significance Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Asn1825Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn1975Ser Uncertain significance Single submitter
ABCA1 p.Asn328Ser Uncertain significance Single submitter
ABCA1 p.Asn349Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn356Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn508Ser Uncertain significance Single submitter
ABCA1 p.Asn562Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1134Asn Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1179Asn Uncertain significance Single submitter
ABCA1 p.Asp1289Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1468Asn Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1585Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1654Ala Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp2137Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp2214Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp2227Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp434Asn Uncertain significance Single submitter
ABCA1 p.Asp444Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp457Glu Uncertain significance Single submitter
ABCA1 p.Asp462Asn Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp598Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp769Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp871Tyr Uncertain significance Single submitter
ABCA1 p.Cys1142Phe Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Cys1463Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Cys1660Trp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Cys1708Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Cys3Phe Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Cys3Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Cys749Phe Uncertain significance Single submitter
ABCA1 p.Gln1457Glu Uncertain significance Single submitter
ABCA1 p.Gln1491Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln1543His Uncertain significance Single submitter
ABCA1 p.Gln188Lys Uncertain significance Single submitter
Tangier disease
ABCA1 p.Gln1900Glu Uncertain significance Single submitter
ABCA1 p.Gln1908His Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln21His Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln283Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln493Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln602Pro Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1058Ala Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1093Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1136Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1136Lys Uncertain significance Single submitter
ABCA1 p.Glu1198Asp Uncertain significance Single submitter
ABCA1 p.Glu1224Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1420Asp Uncertain significance Single submitter
ABCA1 p.Glu1433Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1898Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu2093Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu2170Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu2254Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu486Gln Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu486Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu529Lys Uncertain significance Single submitter
ABCA1 p.Glu612Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu612Gln Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu612Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu669Gln Uncertain significance Single submitter
Tangier disease
ABCA1 p.Glu792Gly Uncertain significance Single submitter
ABCA1 p.Gly1020Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1036Arg Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1049Arg Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1050Val Uncertain significance Single submitter
ABCA1 p.Gly1070Ala Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1264Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1432Glu Uncertain significance Single submitter
ABCA1 p.Gly1534Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1951Glu Uncertain significance Single submitter
ABCA1 p.Gly2025Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly2047Ala Uncertain significance Single submitter
ABCA1 p.Gly2061Ser Uncertain significance Single submitter
ABCA1 p.Gly2147Val Uncertain significance Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Gly310Arg Uncertain significance Single submitter

Predictors split 266

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 266

ABCA1 p.Ala1407Thr Uncertain significance Multiple submitters
ABCA1 p.Ala1855Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Arg126Cys Uncertain significance Multiple submitters
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg1341Thr Likely benign Multiple submitters
Cardiovascular phenotype
ABCA1 p.Arg1344Gln Uncertain significance Multiple submitters
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg1417Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Arg638Gln Benign/Likely benign Multiple submitters
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg638Trp Uncertain significance Multiple submitters
ABCA1 p.Arg972Trp Uncertain significance Multiple submitters
ABCA1 p.Asn1800His Pathogenic/Likely pathogenic Multiple submitters
ABCA1-related disorder
ABCA1 p.Cys23Tyr Uncertain significance Multiple submitters
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Glu1916Ala Benign/Likely benign Multiple submitters
Cardiovascular phenotype
ABCA1 p.Gly1166Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Gly2038Glu Uncertain significance Multiple submitters
Tangier disease
ABCA1 p.Ile2116Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Leu1408Phe Benign/Likely benign Multiple submitters
Tangier disease
ABCA1 p.Leu690Val Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Phe1874Cys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy
ABCA1 p.Pro853Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ser1255Arg Likely benign Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ser251Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ser364Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ser545Asn Likely benign Multiple submitters
Cardiovascular phenotype
ABCA1 p.Ser954Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Thr1399Met Uncertain significance Multiple submitters
Tangier disease
ABCA1 p.Tyr347Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val1368Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val1674Ile Likely benign Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val717Met Uncertain significance Multiple submitters
Cardiovascular phenotype
ABCA1 p.Val771Met Benign Multiple submitters
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Ala1212Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1831Val Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ala1928Ser Uncertain significance Single submitter
ABCA1 p.Ala2028Val Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ala224Thr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala224Val Uncertain significance Single submitter
ABCA1 p.Ala269Asp Uncertain significance Single submitter
ABCA1 p.Ala332Pro Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala391Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala391Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala465Val Uncertain significance Single submitter
ABCA1 p.Ala514Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala60Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ala957Thr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg110Trp Likely benign Single submitter
ABCA1 p.Arg1195Gln Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg1195Trp Conflicting Single submitter
ABCA1 p.Arg1228Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1228Trp Likely benign Single submitter
ABCA1 p.Arg1272Met Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1344Trp Uncertain significance Single submitter
ABCA1 p.Arg1417His Conflicting Single submitter
hypertrophic cardiomyopathy
ABCA1 p.Arg1834Ser Conflicting Single submitter
ABCA1 p.Arg1839Cys Uncertain significance Single submitter
ABCA1 p.Arg1851Gln Uncertain significance Single submitter
ABCA1 p.Arg1897Gln Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Arg1897Trp Likely benign Single submitter
ABCA1 p.Arg1925Trp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg2030Trp Likely benign Single submitter
ABCA1 p.Arg2144Gln Likely benign Single submitter
ABCA1 p.Arg2173Trp Conflicting Single submitter
ABCA1 p.Arg227Leu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg306Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg306His Benign Single submitter
ABCA1 p.Arg496Trp Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Arg500Cys Uncertain significance Single submitter
ABCA1 p.Arg565Ser Conflicting Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg666Gln Conflicting Single submitter
ABCA1 p.Arg672Trp Uncertain significance Single submitter
ABCA1 p.Arg83Cys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg83His Conflicting Single submitter
ABCA1 p.Arg83Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg972Gln Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Arg999Cys Uncertain significance Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Arg999Gly Uncertain significance Single submitter
ABCA1 p.Arg999His Likely benign Single submitter
ABCA1 p.Arg999Leu Likely benign Single submitter
ABCA1 p.Asn1185Ser Conflicting Single submitter
Tangier disease
ABCA1 p.Asn1453Asp Uncertain significance Single submitter
hypoalphalipoproteinemia, primary, 1
ABCA1 p.Asn1552Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn1617Ser Uncertain significance Single submitter
ABCA1 p.Asn1633Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn2238Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn489Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asn506Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp108Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1164Asn Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp119Glu Conflicting Single submitter
ABCA1 p.Asp1227Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1231Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Asp1468Tyr Uncertain significance Single submitter
ABCA1 p.Asp234Tyr Uncertain significance Single submitter
ABCA1 p.Asp462Gly Likely benign Single submitter
ABCA1 p.Cys1110Trp Uncertain significance Single submitter
Tangier disease
ABCA1 p.Gln1014His Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln1327Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln133Pro Uncertain significance Single submitter
ABCA1 p.Gln2196His Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Gln24His Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln597Glu Uncertain significance Single submitter
ABCA1 p.Gln6Pro Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gln768His Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1304Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1304Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu1403Gly Uncertain significance Single submitter
ABCA1 p.Glu1645Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu2026Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu2026Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu271Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu432Val Uncertain significance Single submitter
Tangier disease
ABCA1 p.Glu490Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu53Gly Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Glu815Gly Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Glu991Lys Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1050Arg Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1050Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1166Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1216Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1346Glu Conflicting Single submitter
Tangier disease
ABCA1 p.Gly1480Arg Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1502Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly1538Val Uncertain significance Single submitter
ABCA1 p.Gly1906Ala Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly2062Arg Conflicting Single submitter
Tangier disease
ABCA1 p.Gly2138Ser Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly2165Glu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly658Val Uncertain significance Single submitter
ABCA1 p.Gly772Ala Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly772Asp Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Gly801Asp Uncertain significance Single submitter
ABCA1 p.Gly867Ser Likely benign Single submitter
ABCA1 p.Gly911Arg Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.His1090Tyr Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.His1106Tyr Uncertain significance Single submitter
ABCA1 p.Ile1555Met Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ile1659Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ile1820Leu Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ile2203Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ile560Thr Conflicting Single submitter
Cardiovascular phenotype
ABCA1 p.Ile852Phe Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ile928Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Ile945Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Leu1026Pro Uncertain significance Single submitter
ABCA1 p.Leu1332Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Leu162Phe Likely benign Single submitter
ABCA1 p.Leu1687Met Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Leu179Pro Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Leu2012Val Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Leu2152Met Uncertain significance Single submitter
Cardiovascular phenotype
ABCA1 p.Leu2176Ile Uncertain significance Single submitter
Cardiovascular phenotype

All ABCA1 variants

Pathogenic 47

c.1510-2A>C Single submitter
c.4465-1G>C Single submitter
c.5636+1G>A Single submitter ABCA1-related dyslipidemia
c.6402-1G>T Single submitter
p.Arg1817Ter Single submitter Tangier disease
p.Arg1851Ter Single submitter
p.Arg2144Ter Single submitter
p.Arg2200Ter Single submitter
p.Arg282fs Single submitter
p.Arg557Ter Single submitter
p.Arg587fs Single submitter
p.Arg909Ter Single submitter
p.Asn141fs Single submitter
p.Asn1623fs Single submitter
p.Asn935Ser Single submitter Tangier disease
p.Asp561Ter Single submitter
p.Gln1038Ter Single submitter Tangier disease
p.Gln283Ter Single submitter
p.Gln602Ter Single submitter
p.Gln6Ter Single submitter
p.Gln768Ter Single submitter Tangier disease
p.Gly592fs Single submitter
p.Leu1484fs Single submitter
p.Lys422fs Single submitter
p.Phe1449fs Single submitter
p.Phe1840fs Single submitter
p.Phe34fs Single submitter
p.Pro952fs Single submitter
p.Trp324_Tyr325insTer Single submitter
p.Trp590fs Single submitter Cardiovascular phenotype
p.Trp590Ter Single submitter
p.Trp682Ter Single submitter
p.Tyr627Ter Single submitter
p.Val660fs Single submitter Tangier disease
c.3738+1G>C No assertion criteria Tangier disease
p.Ala937Val No assertion criteria Tangier disease
p.Arg1680Trp No assertion criteria Tangier disease, variant
p.Arg909fs No assertion criteria Tangier disease
p.Asn935His No assertion criteria Tangier disease
p.Gln597Arg No assertion criteria Tangier disease
p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer No assertion criteria Tangier disease
p.Leu694del No assertion criteria hypoalphalipoproteinemia, primary, 1
p.Phe2009Ser No assertion criteria hypoalphalipoproteinemia, primary, 1
p.Pro1284fs No assertion criteria hypoalphalipoproteinemia, primary, 1
p.Ser1115fs No assertion criteria Tangier disease
p.Thr609fs No assertion criteria Tangier disease
p.Tyr573Ter No assertion criteria Tangier disease

Pathogenic/Likely pathogenic 3

p.Arg587Trp Multiple submitters ABCA1-related disorder
p.Asn1800His Multiple submitters ABCA1-related disorder ⚠
p.Thr940Met Multiple submitters Cardiovascular phenotype

Likely pathogenic 27

c.4175+1G>T Multiple submitters Cardiovascular phenotype
c.4274+1G>A Multiple submitters neurofibromatosis type 1
p.Arg2080Trp Multiple submitters Tangier disease
c.1194+1G>A Single submitter
c.2115+1G>T Single submitter
c.302+1G>A Single submitter
c.3103+1G>C Single submitter Tangier disease
c.3787+1G>A Single submitter
c.4050+1G>A Single submitter
c.5237+3A>C Single submitter hypoalphalipoproteinemia, primary, 1
c.5382+1G>A Single submitter
c.5383-2A>T Single submitter hypoalphalipoproteinemia, primary, 1
c.6402-2A>G Single submitter
p.Arg1270Ter Single submitter
p.Arg2081Gln Single submitter Cardiovascular phenotype
p.Arg2081Trp Single submitter Tangier disease
p.Arg282Ter Single submitter hypoalphalipoproteinemia, primary, 1
p.Cys1477Arg Single submitter Tangier disease
p.Gln475Ter Single submitter Tangier disease
p.Gly1415Arg Single submitter
p.Gly2003Arg Single submitter Cardiovascular phenotype
p.Met619_Gln620delinsIleTer Single submitter hypoalphalipoproteinemia, primary, 1
p.Ser1506Leu Single submitter Tangier disease
p.Trp1072Ter Single submitter Early-onset coronary artery disease
p.Tyr1513Ter Single submitter hypoalphalipoproteinemia, primary, 1
p.Val916fs Single submitter hypoalphalipoproteinemia, primary, 1
p.Asn935Asp No assertion criteria Tangier disease

Conflicting classifications of pathogenicity 136

c.161-12C>G Single submitter Tangier disease
c.2543-3C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.302+15A>T Single submitter hypoalphalipoproteinemia, primary, 1
c.3103+3G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.3536-6C>T Single submitter
c.3902-19C>T Single submitter
c.4698+14C>G Single submitter Tangier disease
c.4698+8A>G Single submitter Tangier disease
c.4773+6C>T Single submitter
c.5757+12C>T Single submitter Tangier disease
c.6205-39del Single submitter
c.6308+4C>T Single submitter Tangier disease
c.720+12T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.-205G>T Single submitter hypoalphalipoproteinemia, primary, 1
c.-26A>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*1154C>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*1211G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*1218A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*1260C>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*1476A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*1767G>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*1768T>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*1790C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*19G>T Single submitter Tangier disease
c.*2089G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*2409T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*2486T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*2611A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*2907A>C Single submitter Tangier disease
c.*3087C>T Single submitter Tangier disease
c.*368A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*406T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*874G>A Single submitter hypoalphalipoproteinemia, primary, 1
p.Ala1182Thr Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Ala1494= Single submitter Cardiovascular phenotype
p.Ala1831Val Single submitter Cardiovascular phenotype ⚠
p.Ala1883= Single submitter Cardiovascular phenotype
p.Ala2028Val Single submitter Cardiovascular phenotype ⚠
p.Ala594Thr Single submitter ⚠
p.Arg1195Gln Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg1195Trp Single submitter ⚠
p.Arg1228Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1303Gly Single submitter ⚠
p.Arg1417His Single submitter hypertrophic cardiomyopathy ⚠
p.Arg1680Gln Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg1834Ser Single submitter ⚠
p.Arg1839His Single submitter ⚠
p.Arg1897Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1925Gln Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg2173Trp Single submitter ⚠
p.Arg2200Gln Single submitter Tangier disease ⚠
p.Arg230His Single submitter ⚠
p.Arg496Trp Single submitter Cardiovascular phenotype ⚠
p.Arg565Ser Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg666Gln Single submitter ⚠
p.Arg666Trp Single submitter Tangier disease ⚠
p.Arg83His Single submitter ⚠
p.Asn1185Ser Single submitter Tangier disease ⚠
p.Asn1588= Single submitter Cardiovascular phenotype
p.Asn1975Ile Single submitter Cardiovascular phenotype ⚠
p.Asn489= Single submitter hypoalphalipoproteinemia, primary, 1
p.Asn820Ser Single submitter Cardiovascular phenotype ⚠
p.Asp1018Gly Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Asp119Glu Single submitter ⚠
p.Asp1398= Single submitter Cardiovascular phenotype
p.Asp1793Asn Single submitter Cardiovascular phenotype ⚠
p.Asp446Glu Single submitter Cardiovascular phenotype ⚠
p.Cys887Phe Single submitter Cardiovascular phenotype ⚠
p.Gln1387= Single submitter Cardiovascular phenotype
p.Gln205Lys Single submitter Cardiovascular phenotype ⚠
p.Gln2196His Single submitter Cardiovascular phenotype ⚠
p.Gln732= Single submitter hypoalphalipoproteinemia, primary, 1
p.Glu1253Lys Single submitter Cardiovascular phenotype ⚠
p.Glu815Gly Single submitter Cardiovascular phenotype ⚠
p.Gly1276Arg Single submitter ⚠
p.Gly1346Glu Single submitter Tangier disease ⚠
p.Gly1480Ala Single submitter Cardiovascular phenotype ⚠
p.Gly2062Arg Single submitter Tangier disease ⚠
p.Gly572= Single submitter Cardiovascular phenotype
p.His263Asp Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Ile1298Leu Single submitter Cardiovascular phenotype ⚠
p.Ile1749Val Single submitter Tangier disease ⚠
p.Ile35Val Single submitter Cardiovascular phenotype ⚠
p.Ile546Val Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Ile560Thr Single submitter Cardiovascular phenotype ⚠
p.Leu1033= Single submitter hypoalphalipoproteinemia, primary, 1
p.Leu1041Val Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Leu184Ser Single submitter Tangier disease ⚠
p.Leu222= Single submitter hypoalphalipoproteinemia, primary, 1
p.Leu33= Single submitter Tangier disease
p.Leu745= Single submitter hypoalphalipoproteinemia, primary, 1
p.Lys166Arg Single submitter Tangier disease ⚠
p.Lys2040Glu Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Lys401Gln Single submitter Cardiovascular phenotype ⚠
p.Met1012Ile Single submitter Cardiovascular phenotype ⚠
p.Met674Leu Single submitter Cardiovascular phenotype ⚠
p.Met968Thr Single submitter Tangier disease ⚠
p.Pro1284Leu Single submitter Cardiovascular phenotype ⚠
p.Pro1440= Single submitter Cardiovascular phenotype
p.Pro1547Leu Single submitter Cardiovascular phenotype ⚠
p.Pro1878Thr Single submitter Cardiovascular phenotype ⚠
p.Pro250Leu Single submitter ⚠
p.Pro85Leu Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Ser107Ala Single submitter ⚠
p.Ser1181Phe Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Ser1731Cys Single submitter Tangier disease ⚠
p.Ser2182Phe Single submitter Cardiovascular phenotype ⚠
p.Ser2186Phe Single submitter Cardiovascular phenotype ⚠
p.Ser2234Leu Single submitter Cardiovascular phenotype ⚠
p.Ser296Thr Single submitter Cardiovascular phenotype ⚠
p.Ser696= Single submitter Cardiovascular phenotype
p.Ser824Leu Single submitter ⚠
p.Thr1175Met Single submitter Cardiovascular phenotype ⚠
p.Thr120= Single submitter hypoalphalipoproteinemia, primary, 1
p.Thr1242= Single submitter Tangier disease
p.Thr1399Ser Single submitter Cardiovascular phenotype ⚠
p.Thr1792= Single submitter Tangier disease
p.Thr242Arg Single submitter Cardiovascular phenotype ⚠
p.Thr459= Single submitter Cardiovascular phenotype
p.Thr609= Single submitter Tangier disease
p.Thr774Pro Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Trp590Leu Single submitter ⚠
p.Trp767Cys Single submitter Cardiovascular phenotype ⚠
p.Tyr761= Single submitter hypoalphalipoproteinemia, primary, 1
p.Val1096Ile Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Val1673= Single submitter Cardiovascular phenotype
p.Val1711Ile Single submitter ⚠
p.Val1783Met Single submitter Cardiovascular phenotype ⚠
p.Val1934Met Single submitter Cardiovascular phenotype ⚠
p.Val2241Ile Single submitter Cardiovascular phenotype ⚠
p.Val2244Ile Single submitter Cardiovascular phenotype ⚠
p.Val399Ala Single submitter Tangier disease ⚠
p.Val464Met Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Val589Ile Single submitter Tangier disease ⚠
p.Val771Leu Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Val93Ile Single submitter Cardiovascular phenotype ⚠

Benign 188

c.1055-89A>G Multiple submitters
c.1195-104A>G Multiple submitters
c.1195-13C>T Multiple submitters Tangier disease
c.1509+157C>T Multiple submitters
c.160+151A>G Multiple submitters
c.160+35A>G Multiple submitters
c.161-170G>A Multiple submitters
c.161-228C>T Multiple submitters
c.1892+24T>A Multiple submitters
c.1893-59C>T Multiple submitters
c.2115+115C>A Multiple submitters
c.2115+173G>A Multiple submitters
c.2115+240C>T Multiple submitters
c.2115+81A>G Multiple submitters
c.2116-117G>A Multiple submitters
c.2116-130T>A Multiple submitters
c.2116-180G>A Multiple submitters
c.2337+95T>A Multiple submitters
c.2657-52C>G Multiple submitters
c.2657-68C>G Multiple submitters
c.2960+126A>C Multiple submitters
c.2960+18G>A Multiple submitters
c.303-39C>A Multiple submitters
c.3241+118T>G Multiple submitters
c.3242-143G>A Multiple submitters
c.3242-259C>T Multiple submitters
c.3462+102A>G Multiple submitters
c.3738+123A>G Multiple submitters
c.3738+23G>A Multiple submitters
c.3739-66C>T Multiple submitters
c.3901+153C>T Multiple submitters
c.4176-179C>T Multiple submitters
c.4176-274A>C Multiple submitters
c.421+110G>A Multiple submitters
c.421+76T>G Multiple submitters
c.4559+30G>T Multiple submitters Tangier disease
c.4593-26G>C Multiple submitters
c.4698+7T>C Multiple submitters hypoalphalipoproteinemia, primary, 1
c.4774-17G>A Multiple submitters
c.5121+55T>C Multiple submitters
c.5122-61T>C Multiple submitters
c.5382+85T>C Multiple submitters
c.5383-167A>C Multiple submitters
c.5383-20_5383-17dup Multiple submitters
c.5383-20_5383-18dup Multiple submitters hypoalphalipoproteinemia, primary, 1
c.5383-20_5383-19dup Multiple submitters
c.5383-20dup Multiple submitters
c.5383-3del Multiple submitters
c.543+153C>G Multiple submitters
c.543+210A>C Multiple submitters
c.544-161T>G Multiple submitters
c.5507-130G>C Multiple submitters
c.5507-25C>T Multiple submitters
c.5637-119C>T Multiple submitters
c.5758-242A>G Multiple submitters
c.5820+148G>A Multiple submitters
c.5821-169T>A Multiple submitters
c.5927+18T>C Multiple submitters Tangier disease
c.6069+68T>C Multiple submitters
c.6205-34C>T Multiple submitters
c.6401+117A>G Multiple submitters
c.6401+13A>G Multiple submitters Tangier disease
c.6401+86C>A Multiple submitters Tangier disease
c.66+144G>A Multiple submitters
c.66+156C>T Multiple submitters
c.6645+55G>C Multiple submitters
c.67-50T>C Multiple submitters
c.67-58G>A Multiple submitters
c.721-10del Multiple submitters
c.813+17C>T Multiple submitters
c.814-14dup Multiple submitters hypoalphalipoproteinemia, primary, 1
c.814-243C>T Multiple submitters
c.-18G>C Multiple submitters hypoalphalipoproteinemia, primary, 1
c.-93+92T>C Multiple submitters
c.*1440C>T Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*1653T>A Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*1896G>A Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*1911C>T Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*2311A>G Multiple submitters Tangier disease
c.*3220A>G Multiple submitters Tangier disease
c.*395T>A Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*693C>T Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Arg1228= Multiple submitters Tangier disease
p.Arg219Lys Multiple submitters Cardiovascular phenotype
p.Arg230Cys Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Glu1172Asp Multiple submitters Tangier disease
p.Glu1211= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Gly1480= Multiple submitters Cardiovascular phenotype
p.Gly316= Multiple submitters Tangier disease
p.Ile680= Multiple submitters Cardiovascular phenotype
p.Ile883Met Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Leu510= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Lys1587Arg Multiple submitters Cardiovascular phenotype
p.Pro312= Multiple submitters Tangier disease
p.Ser1376Gly Multiple submitters
p.Tyr1921= Multiple submitters Tangier disease
p.Val771Met Multiple submitters hypoalphalipoproteinemia, primary, 1 ⚠
p.Val825Ile Multiple submitters hypoalphalipoproteinemia, primary, 1
c.1054+218A>C Single submitter
c.1195-38_1195-36del Single submitter
c.1195-62_1195-61insG Single submitter
c.1312-158C>T Single submitter
c.1509+84del Single submitter
c.1510-178A>G Single submitter
c.1510-256T>C Single submitter
c.160+171A>G Single submitter
c.160+209A>G Single submitter
c.161-1670A>G Single submitter
c.161-257G>A Single submitter
c.161-272T>C Single submitter
c.1715+216A>G Single submitter
c.1716-133dup Single submitter
c.1716-238A>G Single submitter
c.1716-48A>T Single submitter
c.1716-49del Single submitter
c.1716-50_1716-49del Single submitter
c.1716-69_1716-67dup Single submitter
c.1716-69_1716-68dup Single submitter
c.1716-69dup Single submitter
c.1892+204A>G Single submitter
c.1892+229T>A Single submitter
c.1892+235del Single submitter
c.2116-260G>A Single submitter
c.2337+155C>A Single submitter
c.2337+236G>A Single submitter
c.2338-160C>T Single submitter
c.2656+222_2656+225del Single submitter
c.2657-265G>A Single submitter
c.2829-244G>A Single submitter
c.303-236A>G Single submitter
c.3104-5del Single submitter
c.3535+149C>T Single submitter
c.3787+52T>C Single submitter
c.3902-278C>A Single submitter
c.421+240G>A Single submitter
c.422-161T>C Single submitter
c.422-275GT[14] Single submitter
c.422-275GT[15] Single submitter
c.422-43del Single submitter
c.4464+118GTTTTTT[3] Single submitter
c.4464+19del Single submitter
c.4593-132_4593-131del Single submitter
c.4593-236A>G Single submitter
c.4698+258C>T Single submitter
c.4773+234C>T Single submitter
c.5121+248A>G Single submitter
c.5121+278C>G Single submitter
c.5122-232G>T Single submitter
c.5122-278G>T Single submitter
c.5238-13del Single submitter
c.5238-18C>T Single submitter
c.5383-20_5383-15dup Single submitter
c.5383-4_5383-3del Single submitter
c.5506+251G>T Single submitter
c.5506+252C>T Single submitter
c.5637-9dup Single submitter
c.5757+239A>C Single submitter
c.5758-137C>T Single submitter
c.5758-255A>G Single submitter
c.5821-215T>C Single submitter
c.5927+162A>G Single submitter
c.5927+264T>C Single submitter
c.5927+279T>C Single submitter
c.6069+24G>C Single submitter
c.6069+61del Single submitter
c.6070-69T>C Single submitter
c.6204+7A>G Single submitter
c.6309-147T>C Single submitter
c.6401+204G>T Single submitter
c.66+3401C>T Single submitter
c.6646-165T>C Single submitter
c.720+2526G>C Single submitter
c.-217A>G Single submitter Tangier disease
c.-279C>G Single submitter hypoalphalipoproteinemia, primary, 1
c.-76dup Single submitter
c.*1466del Single submitter
c.*1466dup Single submitter
c.*16del Single submitter
c.*2705G>A Single submitter Tangier disease
c.*2897_*2899del Single submitter
c.*3083T>C Single submitter Tangier disease
c.*321dup Single submitter
c.*342G>T Single submitter hypoalphalipoproteinemia, primary, 1
p.Arg306His Single submitter ⚠
p.Gly216Asp Single submitter
p.Pro248Ala Single submitter
c.161-806C>T No assertion criteria
c.6205-48G>T No assertion criteria ABCA1-related disorder

Benign/Likely benign 60

c.1055-7T>C Multiple submitters hypoalphalipoproteinemia, primary, 1
c.2338-17T>C Multiple submitters Tangier disease
c.2961-10C>T Multiple submitters hypoalphalipoproteinemia, primary, 1
c.303-42_303-5dup Multiple submitters Cardiovascular phenotype
c.3104-5dup Multiple submitters
c.4464+12T>C Multiple submitters
c.5636+18A>C Multiple submitters
c.5637-4del Multiple submitters Cardiovascular phenotype
c.66+9G>T Multiple submitters
c.720+6T>C Multiple submitters Tangier disease
c.*1923A>C Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*96T>C Multiple submitters Tangier disease
p.Ala343Val Multiple submitters Tangier disease
p.Ala465= Multiple submitters Cardiovascular phenotype
p.Ala697Thr Multiple submitters Cardiovascular phenotype
p.Arg1068= Multiple submitters Tangier disease
p.Arg638Gln Multiple submitters hypoalphalipoproteinemia, primary, 1 ⚠
p.Asn1385= Multiple submitters Cardiovascular phenotype
p.Asn508= Multiple submitters Cardiovascular phenotype
p.Asp1289Asn Multiple submitters Tangier disease
p.Asp2243Glu Multiple submitters Cardiovascular phenotype
p.Asp457= Multiple submitters Cardiovascular phenotype
p.Asp910= Multiple submitters Cardiovascular phenotype
p.Gln1430= Multiple submitters Cardiovascular phenotype
p.Gln1678= Multiple submitters Cardiovascular phenotype
p.Glu1172Gly Multiple submitters Cardiovascular phenotype
p.Glu1916Ala Multiple submitters Cardiovascular phenotype ⚠
p.Glu868Lys Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Gly1256= Multiple submitters Cardiovascular phenotype
p.Gly933= Multiple submitters Cardiovascular phenotype
p.Gly938= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.His1090= Multiple submitters Cardiovascular phenotype
p.His2006= Multiple submitters Cardiovascular phenotype
p.Ile659= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Leu1408Phe Multiple submitters Tangier disease ⚠
p.Leu217= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Leu375= Multiple submitters Cardiovascular phenotype
p.Lys776Asn Multiple submitters Tangier disease
p.Pro2150= Multiple submitters Cardiovascular phenotype
p.Ser1157Asn Multiple submitters Cardiovascular phenotype
p.Ser1506= Multiple submitters Cardiovascular phenotype
p.Ser212Thr Multiple submitters Tangier disease
p.Ser2185= Multiple submitters Cardiovascular phenotype
p.Ser545= Multiple submitters Cardiovascular phenotype
p.Ser723= Multiple submitters Cardiovascular phenotype
p.Ser824= Multiple submitters Cardiovascular phenotype
p.Thr956= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Tyr115= Multiple submitters Cardiovascular phenotype
p.Tyr1698= Multiple submitters Cardiovascular phenotype
p.Tyr1767= Multiple submitters Cardiovascular phenotype
p.Val1053= Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Val2098= Multiple submitters Cardiovascular phenotype
p.Val2256= Multiple submitters Cardiovascular phenotype
p.Val916= Multiple submitters Cardiovascular phenotype
c.*1322C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*1586A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*1803G>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*2129A>T Single submitter Tangier disease
c.*3251T>C Single submitter Tangier disease
c.*3254T>C Single submitter Tangier disease

Likely benign 701

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

c.1195-28C>T Multiple submitters
c.1312-16C>T Multiple submitters
c.1312-19T>C Multiple submitters
c.160+26G>A Multiple submitters
c.1893-4C>G Multiple submitters Cardiovascular phenotype
c.2115+17C>T Multiple submitters
c.2116-16G>A Multiple submitters
c.2543-37A>T Multiple submitters
c.2656+60T>C Multiple submitters
c.2657-75G>A Multiple submitters
c.302+17G>T Multiple submitters
c.3463-195G>A Multiple submitters
c.3463-65G>A Multiple submitters
c.3787+43T>C Multiple submitters
c.3787+60T>C Multiple submitters
c.4050+7C>T Multiple submitters
c.4050+8G>A Multiple submitters
c.4175+31G>A Multiple submitters
c.4176-53C>T Multiple submitters
c.421+25C>T Multiple submitters
c.422-16C>T Multiple submitters
c.4275-225A>C Multiple submitters
c.4275-91G>A Multiple submitters
c.4559+12C>T Multiple submitters
c.4559+5C>A Multiple submitters
c.4699-18G>C Multiple submitters
c.4774-14A>G Multiple submitters
c.544-119C>A Multiple submitters
c.6069+75G>A Multiple submitters
c.6308+89C>T Multiple submitters
c.6309-4G>A Multiple submitters Cardiovascular phenotype
p.Ala1010= Multiple submitters Cardiovascular phenotype
p.Ala1094= Multiple submitters Cardiovascular phenotype
p.Ala1217= Multiple submitters Cardiovascular phenotype
p.Ala1361= Multiple submitters Cardiovascular phenotype
p.Ala1831= Multiple submitters Cardiovascular phenotype
p.Ala2028= Multiple submitters Cardiovascular phenotype
p.Ala397= Multiple submitters Cardiovascular phenotype
p.Ala647= Multiple submitters Cardiovascular phenotype
p.Arg1195= Multiple submitters Cardiovascular phenotype
p.Arg130= Multiple submitters Cardiovascular phenotype
p.Arg1341Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg1680= Multiple submitters Cardiovascular phenotype
p.Arg1839= Multiple submitters Cardiovascular phenotype
p.Arg500= Multiple submitters Cardiovascular phenotype
p.Asn1144= Multiple submitters Cardiovascular phenotype
p.Asn1185Lys Multiple submitters
p.Asn2149= Multiple submitters Cardiovascular phenotype
p.Asn328= Multiple submitters Cardiovascular phenotype
p.Asn678= Multiple submitters Cardiovascular phenotype
p.Asn982= Multiple submitters Cardiovascular phenotype
p.Asp1018= Multiple submitters Cardiovascular phenotype
p.Asp1095= Multiple submitters Cardiovascular phenotype
p.Asp119= Multiple submitters Cardiovascular phenotype
p.Asp1277= Multiple submitters Cardiovascular phenotype
p.Asp434= Multiple submitters Cardiovascular phenotype
p.Cys1933= Multiple submitters Cardiovascular phenotype
p.Cys309= Multiple submitters Cardiovascular phenotype
p.Gln451= Multiple submitters Cardiovascular phenotype
p.Glu1203= Multiple submitters Cardiovascular phenotype
p.Glu1645= Multiple submitters Cardiovascular phenotype
p.Glu664= Multiple submitters Cardiovascular phenotype
p.Gly1168= Multiple submitters Cardiovascular phenotype
p.Gly1201= Multiple submitters Cardiovascular phenotype
p.Gly1310= Multiple submitters Cardiovascular phenotype
p.Gly336= Multiple submitters Cardiovascular phenotype
p.Gly751= Multiple submitters Cardiovascular phenotype
p.Gly803= Multiple submitters Cardiovascular phenotype
p.Gly867= Multiple submitters Cardiovascular phenotype
p.Gly898= Multiple submitters
p.Gly976= Multiple submitters Cardiovascular phenotype
p.Ile1496= Multiple submitters Cardiovascular phenotype
p.Ile1613= Multiple submitters Cardiovascular phenotype
p.Ile1802= Multiple submitters Cardiovascular phenotype
p.Ile1820= Multiple submitters Cardiovascular phenotype
p.Ile1876= Multiple submitters Cardiovascular phenotype
p.Ile2060= Multiple submitters Cardiovascular phenotype
p.Ile2203= Multiple submitters Cardiovascular phenotype
p.Ile463= Multiple submitters Cardiovascular phenotype
p.Ile959= Multiple submitters Cardiovascular phenotype
p.Leu1086= Multiple submitters Cardiovascular phenotype
p.Leu112= Multiple submitters Cardiovascular phenotype
p.Leu1122= Multiple submitters Cardiovascular phenotype
p.Leu1229= Multiple submitters Cardiovascular phenotype
p.Leu1333= Multiple submitters Cardiovascular phenotype
p.Leu1474= Multiple submitters Cardiovascular phenotype
p.Leu15= Multiple submitters Cardiovascular phenotype
p.Leu1741= Multiple submitters Cardiovascular phenotype
p.Leu1744= Multiple submitters Cardiovascular phenotype
p.Leu1752= Multiple submitters Cardiovascular phenotype
p.Leu1788= Multiple submitters Cardiovascular phenotype
p.Leu1865= Multiple submitters Cardiovascular phenotype
p.Leu2034= Multiple submitters Cardiovascular phenotype
p.Leu2088= Multiple submitters Cardiovascular phenotype
p.Leu2168= Multiple submitters Cardiovascular phenotype
p.Leu2184= Multiple submitters Cardiovascular phenotype
p.Leu236= Multiple submitters Cardiovascular phenotype
p.Leu379= Multiple submitters Cardiovascular phenotype
p.Leu694= Multiple submitters Cardiovascular phenotype
p.Leu731= Multiple submitters Cardiovascular phenotype
p.Lys1189= Multiple submitters Cardiovascular phenotype
p.Lys360= Multiple submitters Cardiovascular phenotype
p.Phe1275= Multiple submitters Cardiovascular phenotype
p.Phe1854= Multiple submitters Cardiovascular phenotype
p.Phe794= Multiple submitters Cardiovascular phenotype
p.Pro1022= Multiple submitters Cardiovascular phenotype
p.Pro1284= Multiple submitters Cardiovascular phenotype
p.Pro1293= Multiple submitters Cardiovascular phenotype
p.Pro1369= Multiple submitters Cardiovascular phenotype
p.Pro238= Multiple submitters Cardiovascular phenotype
p.Pro377= Multiple submitters Cardiovascular phenotype
p.Pro549= Multiple submitters Cardiovascular phenotype
p.Pro784= Multiple submitters Cardiovascular phenotype
p.Pro91= Multiple submitters Cardiovascular phenotype
p.Pro952= Multiple submitters Cardiovascular phenotype
p.Ser1169= Multiple submitters Cardiovascular phenotype
p.Ser1255Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser1603= Multiple submitters Cardiovascular phenotype
p.Ser163= Multiple submitters Cardiovascular phenotype
p.Ser1772= Multiple submitters Cardiovascular phenotype
p.Ser1782= Multiple submitters Cardiovascular phenotype
p.Ser1805= Multiple submitters Cardiovascular phenotype
p.Ser2249= Multiple submitters Cardiovascular phenotype
p.Ser545Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser639= Multiple submitters Cardiovascular phenotype
p.Ser651= Multiple submitters Cardiovascular phenotype
p.Ser716= Multiple submitters Cardiovascular phenotype
p.Ser954= Multiple submitters
p.Thr1060= Multiple submitters Cardiovascular phenotype
p.Thr1175= Multiple submitters Cardiovascular phenotype
p.Thr131= Multiple submitters Cardiovascular phenotype
p.Thr1325= Multiple submitters Cardiovascular phenotype
p.Thr1389= Multiple submitters
p.Thr1399= Multiple submitters Cardiovascular phenotype
p.Thr1512= Multiple submitters Cardiovascular phenotype
p.Thr1867= Multiple submitters Cardiovascular phenotype
p.Thr289= Multiple submitters Cardiovascular phenotype
p.Thr611= Multiple submitters Cardiovascular phenotype
p.Thr756= Multiple submitters Cardiovascular phenotype
p.Thr893= Multiple submitters Cardiovascular phenotype
p.Thr893Ile Multiple submitters
p.Thr947= Multiple submitters Cardiovascular phenotype
p.Thr970= Multiple submitters Cardiovascular phenotype
p.Tyr1127= Multiple submitters Cardiovascular phenotype
p.Tyr1210= Multiple submitters Cardiovascular phenotype
p.Tyr588= Multiple submitters Cardiovascular phenotype
p.Tyr627= Multiple submitters Cardiovascular phenotype
p.Tyr770= Multiple submitters Cardiovascular phenotype
p.Tyr850= Multiple submitters Cardiovascular phenotype
p.Val1048= Multiple submitters Cardiovascular phenotype
p.Val1441= Multiple submitters Cardiovascular phenotype
p.Val1539= Multiple submitters Cardiovascular phenotype
p.Val1674Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val1693= Multiple submitters Cardiovascular phenotype
p.Val1965= Multiple submitters Cardiovascular phenotype
p.Val2016= Multiple submitters Cardiovascular phenotype
p.Val42= Multiple submitters Cardiovascular phenotype
p.Val785= Multiple submitters Cardiovascular phenotype
p.Val899= Multiple submitters Cardiovascular phenotype
p.Val990= Multiple submitters Cardiovascular phenotype
c.1054+14C>G Single submitter
c.1054+9C>A Single submitter
c.1055-13_1055-11del Single submitter
c.1055-16C>G Single submitter
c.1055-18C>T Single submitter
c.1055-8C>G Single submitter
c.1194+12C>T Single submitter
c.1194+140A>T Single submitter
c.1194+15G>C Single submitter
c.1194+8G>T Single submitter
c.1194+9C>T Single submitter
c.1195-14_1195-13delinsTT Single submitter
c.1195-19G>T Single submitter
c.1195-8G>A Single submitter
c.1312-17T>A Single submitter
c.1509+15_1509+17del Single submitter
c.1510-13G>A Single submitter
c.1510-6T>C Single submitter
c.160+56A>G Single submitter
c.161-14_161-12del Single submitter
c.161-16T>A Single submitter
c.1715+12C>G Single submitter
c.1715+16T>A Single submitter
c.1715+20A>G Single submitter
c.1716-17C>G Single submitter
c.1892+9C>T Single submitter
c.1893-144C>T Single submitter
c.1893-16del Single submitter
c.1893-204A>G Single submitter
c.2115+18G>A Single submitter
c.2115+84del Single submitter
c.2337+118C>A Single submitter
c.2337+13G>A Single submitter
c.2338-11G>T Single submitter
c.2338-94A>G Single submitter
c.2542+184A>T Single submitter
c.2542+198A>T Single submitter
c.2543-10T>C Single submitter
c.2543-18C>T Single submitter
c.2543-20dup Single submitter
c.2656+15C>T Single submitter
c.2656+18C>T Single submitter
c.2656+7G>A Single submitter
c.2656+8C>A Single submitter
c.2657-15T>C Single submitter
c.2657-17C>T Single submitter
c.2657-5C>T Single submitter
c.2828+12G>A Single submitter
c.2828+14_2828+18del Single submitter
c.2828+280G>T Single submitter
c.2829-128G>A Single submitter
c.2829-167C>T Single submitter
c.2829-18C>T Single submitter
c.2829-5C>T Single submitter
c.2829-6C>T Single submitter
c.2961-104C>T Single submitter
c.2961-11C>A Single submitter
c.2961-20A>G Single submitter
c.2961-5C>T Single submitter
c.303-10C>T Single submitter
c.303-18T>A Single submitter
c.303-9C>G Single submitter
c.3103+9del Single submitter
c.3104-10T>C Single submitter
c.3104-11T>C Single submitter
c.3104-16C>G Single submitter
c.3104-17G>C Single submitter
c.3241+51del Single submitter
c.3241+7G>A Single submitter
c.3462+7dup Single submitter
c.3536-10G>T Single submitter
c.3536-12T>C Single submitter
c.3536-262T>C Single submitter
c.3536-4G>A Single submitter
c.3738+13G>T Single submitter
c.3738+7T>C Single submitter
c.3739-10C>A Single submitter
c.3739-12C>G Single submitter
c.3788-13C>T Single submitter
c.3788-19del Single submitter
c.3788-4T>A Single submitter
c.3788-7C>A Single submitter
c.3788-8G>T Single submitter
c.3901+17T>A Single submitter
c.4050+19G>A Single submitter
c.4050+94_4050+95insAATC Single submitter
c.4050+97G>A Single submitter
c.4050+99_4050+104del Single submitter
c.4051-11C>A Single submitter
c.4051-21_4051-16del Single submitter
c.4051-6G>A Single submitter
c.4175+17C>T Single submitter
c.4175+18A>G Single submitter
c.4176-17C>T Single submitter
c.4176-5C>T Single submitter
c.4274+10A>C Single submitter
c.4274+14T>C Single submitter
c.4275-17C>A Single submitter
c.4275-4G>C Single submitter
c.4275-8C>T Single submitter
c.4275-9C>G Single submitter
c.4464+19G>T Single submitter
c.4464+265C>T Single submitter
c.4465-10G>A Single submitter
c.4559+9_4559+10del Single submitter
c.4592+16T>A Single submitter
c.4592+9C>T Single submitter
c.4593-144C>T Single submitter
c.4593-17T>C Single submitter
c.4593-18G>A Single submitter
c.4593-7C>A Single submitter
c.4698+11T>C Single submitter
c.4698+12A>G Single submitter
c.4698+14C>T Single submitter
c.4698+15G>A Single submitter
c.4699-11G>A Single submitter
c.4699-15T>A Single submitter
c.4699-46_4699-15del Single submitter
c.4773+20C>G Single submitter
c.4773+8G>A Single submitter
c.4774-156G>C Single submitter
c.4774-20C>G Single submitter
c.4774-20C>T Single submitter
c.4774-54C>T Single submitter
c.4944-15G>A Single submitter
c.4944-15G>C Single submitter
c.4944-15G>T Single submitter
c.4944-16C>T Single submitter
c.4944-18C>T Single submitter
c.5121+17G>A Single submitter
c.5121+20G>A Single submitter
c.5122-14G>C Single submitter
c.5122-216G>C Single submitter
c.5237+9C>T Single submitter
c.5382+9T>C Single submitter
c.5383-14_5383-13insC Single submitter
c.5383-189A>G Single submitter
c.5383-20_5383-16dup Single submitter
c.543+20T>C Single submitter
c.5506+7G>A Single submitter

Uncertain significance 660

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

c.2338-3_2338-2del Multiple submitters
c.3787+5C>A Multiple submitters Cardiovascular phenotype
c.*2330A>T Multiple submitters hypoalphalipoproteinemia, primary, 1
c.*379C>T Multiple submitters hypoalphalipoproteinemia, primary, 1
p.Ala1407Thr Multiple submitters ⚠
p.Ala1739Thr Multiple submitters ⚠
p.Ala1855Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg126Cys Multiple submitters hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg1283Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg1342Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1344Gln Multiple submitters hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg1417Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg634Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg638Trp Multiple submitters ⚠
p.Arg972Trp Multiple submitters ⚠
p.Asn2174Thr Multiple submitters Cardiovascular phenotype ⚠
p.Asp1099Tyr Multiple submitters ABCA1-related disorder ⚠
p.Asp1227Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp176Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp2232Gly Multiple submitters Cardiovascular phenotype ⚠
p.Cys23Tyr Multiple submitters hypoalphalipoproteinemia, primary, 1 ⚠
p.Glu1397Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu28Gln Multiple submitters hypercholesterolemia, familial, 1 ⚠
p.Glu869Asp Multiple submitters Cardiovascular phenotype ⚠
p.Gly1166Ala Multiple submitters Cardiovascular phenotype ⚠
p.Gly2038Glu Multiple submitters Tangier disease ⚠
p.His550Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile1911Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile2116Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile2141Val Multiple submitters ⚠
p.Ile886Thr Multiple submitters Cardiovascular phenotype ⚠
p.Leu1362Phe Multiple submitters Tangier disease ⚠
p.Leu1716Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu1869Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu2068= Multiple submitters Cardiovascular phenotype
p.Leu690Val Multiple submitters Cardiovascular phenotype ⚠
p.Met1665Val Multiple submitters Tangier disease ⚠
p.Phe1874Cys Multiple submitters hypertrophic cardiomyopathy ⚠
p.Pro1425Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro1461Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro853Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ser251Arg Multiple submitters Cardiovascular phenotype ⚠
p.Ser364Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ser684Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser954Leu Multiple submitters Cardiovascular phenotype ⚠
p.Thr1399Met Multiple submitters Tangier disease ⚠
p.Thr1792Ala Multiple submitters ⚠
p.Trp590Ser Multiple submitters Tangier disease ⚠
p.Tyr1729Cys Multiple submitters ⚠
p.Tyr1921His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr347Cys Multiple submitters Cardiovascular phenotype ⚠
p.Val1368Met Multiple submitters Cardiovascular phenotype ⚠
p.Val1476Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val1668Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val380Phe Multiple submitters Cardiovascular phenotype ⚠
p.Val717Met Multiple submitters Cardiovascular phenotype ⚠
c.1055-3T>C Single submitter
c.1312-3C>T Single submitter
c.1715+3A>G Single submitter
c.2337+8C>A Single submitter hypoalphalipoproteinemia, primary, 1
c.302+5G>A Single submitter
c.3103+4C>A Single submitter
c.3103+4C>T Single submitter Cardiovascular phenotype
c.3103+5G>A Single submitter Cardiovascular phenotype
c.3241+5C>T Single submitter
c.3462+4A>G Single submitter Cardiovascular phenotype
c.3462+510A>G Single submitter Tangier disease
c.4175+4T>A Single submitter
c.422-12A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.4464+398C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.4774-3C>G Single submitter
c.4943+6T>A Single submitter
c.5121+14C>T Single submitter
c.5237+6T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.5382+4A>G Single submitter
c.5383-11_5383-3del Single submitter
c.5383-3T>C Single submitter
c.5927+3G>A Single submitter
c.6309-18C>T Single submitter
c.6309-5C>T Single submitter Cardiovascular phenotype
c.6401+5T>C Single submitter
c.720+3681G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.721-3C>T Single submitter
c.-114C>G Single submitter hypoalphalipoproteinemia, primary, 1
c.-138G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.-139T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.-141C>G Single submitter hypoalphalipoproteinemia, primary, 1
c.-141C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.-188G>C Single submitter hypoalphalipoproteinemia, primary, 1
c.-194C>T Single submitter Tangier disease
c.-223C>A Single submitter hypoalphalipoproteinemia, primary, 1
c.-24G>A Single submitter Tangier disease
c.-281C>A Single submitter Tangier disease
c.-5G>A Single submitter Cardiovascular phenotype
c.-77G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.-93+13C>G Single submitter Tangier disease
c.*1031T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*1173C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*1204A>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*1222C>T Single submitter Tangier disease
c.*1326C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*132A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*1467A>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*1574T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*1657C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*1773A>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*17G>A Single submitter
c.*1876A>G Single submitter Tangier disease
c.*1900T>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*1970G>C Single submitter Tangier disease
c.*2002A>C Single submitter Tangier disease
c.*2220T>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*2371A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*2446A>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*2502T>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*2516T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*2537G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*2645G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*2653C>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*2737T>C Single submitter Tangier disease
c.*2746T>C Single submitter Tangier disease
c.*285C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*2893C>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*289T>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*2988C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*3029A>G Single submitter Tangier disease
c.*303C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*3187A>G Single submitter Tangier disease
c.*3208T>A Single submitter Tangier disease
c.*3279A>T Single submitter Tangier disease
c.*329T>C Single submitter Tangier disease
c.*337C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*398A>G Single submitter Tangier disease
c.*417A>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*486G>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*566G>C Single submitter hypoalphalipoproteinemia, primary, 1
c.*614C>T Single submitter hypoalphalipoproteinemia, primary, 1
c.*699C>T Single submitter Tangier disease
c.*875T>A Single submitter hypoalphalipoproteinemia, primary, 1
c.*898C>G Single submitter hypoalphalipoproteinemia, primary, 1
c.*983A>T Single submitter hypoalphalipoproteinemia, primary, 1
p.Ala1016Val Single submitter Cardiovascular phenotype ⚠
p.Ala1094Val Single submitter ⚠
p.Ala109Thr Single submitter ⚠
p.Ala1182Val Single submitter Cardiovascular phenotype ⚠
p.Ala1212Gly Single submitter Cardiovascular phenotype ⚠
p.Ala1217Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1259Gly Single submitter Cardiovascular phenotype ⚠
p.Ala1259Thr Single submitter ⚠
p.Ala1274Asp Single submitter Cardiovascular phenotype ⚠
p.Ala1291Val Single submitter ⚠
p.Ala1462Val Single submitter Cardiovascular phenotype ⚠
p.Ala1494Val Single submitter Cardiovascular phenotype ⚠
p.Ala1631Val Single submitter Cardiovascular phenotype ⚠
p.Ala1647Thr Single submitter ⚠
p.Ala1664Val Single submitter Cardiovascular phenotype ⚠
p.Ala1928Ser Single submitter ⚠
p.Ala1996Asp Single submitter Cardiovascular phenotype ⚠
p.Ala2058Val Single submitter ⚠
p.Ala2245fs Single submitter
p.Ala224Thr Single submitter Cardiovascular phenotype ⚠
p.Ala224Val Single submitter ⚠
p.Ala269Asp Single submitter ⚠
p.Ala332Pro Single submitter Cardiovascular phenotype ⚠
p.Ala391Asp Single submitter Cardiovascular phenotype ⚠
p.Ala391Ser Single submitter Cardiovascular phenotype ⚠
p.Ala460Val Single submitter Cardiovascular phenotype ⚠
p.Ala465Val Single submitter ⚠
p.Ala468Ser Single submitter Cardiovascular phenotype ⚠
p.Ala514Val Single submitter Cardiovascular phenotype ⚠
p.Ala60Val Single submitter Cardiovascular phenotype ⚠
p.Ala726Ser Single submitter Cardiovascular phenotype ⚠
p.Ala766Ser Single submitter Cardiovascular phenotype ⚠
p.Ala766Thr Single submitter Cardiovascular phenotype ⚠
p.Ala779Thr Single submitter ⚠
p.Ala90Ser Single submitter Cardiovascular phenotype ⚠
p.Ala90Val Single submitter Cardiovascular phenotype ⚠
p.Ala957Thr Single submitter Cardiovascular phenotype ⚠
p.Arg1068Gly Single submitter Cardiovascular phenotype ⚠
p.Arg111Ser Single submitter ⚠
p.Arg1228Gly Single submitter Cardiovascular phenotype ⚠
p.Arg1272Gly Single submitter Cardiovascular phenotype ⚠
p.Arg1272Lys Single submitter ⚠
p.Arg1272Met Single submitter Cardiovascular phenotype ⚠
p.Arg1273Leu Single submitter Cardiovascular phenotype ⚠
p.Arg1283His Single submitter ⚠
p.Arg1344Trp Single submitter ⚠
p.Arg1572Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1572Leu Single submitter ⚠
p.Arg1817Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1839Cys Single submitter ⚠
p.Arg1851Gln Single submitter ⚠
p.Arg1925Trp Single submitter Cardiovascular phenotype ⚠
p.Arg2051Cys Single submitter ⚠
p.Arg227Gln Single submitter ⚠
p.Arg227Leu Single submitter Cardiovascular phenotype ⚠
p.Arg230Ser Single submitter Cardiovascular phenotype ⚠
p.Arg282Gln Single submitter ⚠
p.Arg306Gly Single submitter Cardiovascular phenotype ⚠
p.Arg437= Single submitter
p.Arg43Gln Single submitter Cardiovascular phenotype ⚠
p.Arg443Ser Single submitter Cardiovascular phenotype ⚠
p.Arg496Gln Single submitter ⚠
p.Arg500Cys Single submitter ⚠
p.Arg530Ser Single submitter Cardiovascular phenotype ⚠
p.Arg672Trp Single submitter ⚠
p.Arg83Cys Single submitter Cardiovascular phenotype ⚠
p.Arg83Ser Single submitter Cardiovascular phenotype ⚠
p.Arg854Ser Single submitter Cardiovascular phenotype ⚠
p.Arg972Gln Single submitter Cardiovascular phenotype ⚠
p.Arg999Cys Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Arg999Gly Single submitter ⚠
p.Asn1406Lys Single submitter ⚠
p.Asn1453Asp Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Asn1458Ser Single submitter ⚠
p.Asn1552Tyr Single submitter Cardiovascular phenotype ⚠
p.Asn1610Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1617Ser Single submitter ⚠
p.Asn1633Ser Single submitter Cardiovascular phenotype ⚠
p.Asn1734Ser Single submitter hypoalphalipoproteinemia, primary, 1 ⚠
p.Asn1825Lys Single submitter Cardiovascular phenotype ⚠
p.Asn1975Ser Single submitter ⚠
p.Asn2238Tyr Single submitter Cardiovascular phenotype ⚠
p.Asn328Ser Single submitter ⚠
p.Asn329del Single submitter Cardiovascular phenotype
p.Asn349Ser Single submitter Cardiovascular phenotype ⚠
p.Asn356Ser Single submitter Cardiovascular phenotype ⚠
p.Asn489Tyr Single submitter Cardiovascular phenotype ⚠
p.Asn506Tyr Single submitter Cardiovascular phenotype ⚠
p.Asn508Ser Single submitter ⚠
p.Asn562Ser Single submitter Cardiovascular phenotype ⚠
p.Asp108Gly Single submitter Cardiovascular phenotype ⚠
p.Asp1134Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1164Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1179Asn Single submitter ⚠
p.Asp1227Val Single submitter Cardiovascular phenotype ⚠
p.Asp1231Gly Single submitter Cardiovascular phenotype ⚠
p.Asp1289Gly Single submitter Cardiovascular phenotype ⚠
p.Asp1468Asn Single submitter Cardiovascular phenotype ⚠
p.Asp1468Tyr Single submitter ⚠
p.Asp1585Gly Single submitter Cardiovascular phenotype ⚠
p.Asp1654Ala Single submitter Cardiovascular phenotype ⚠
p.Asp2137Gly Single submitter Cardiovascular phenotype ⚠
p.Asp2214Val Single submitter Cardiovascular phenotype ⚠
p.Asp2227Glu Single submitter Cardiovascular phenotype ⚠
p.Asp234Tyr Single submitter ⚠
p.Asp434Asn Single submitter ⚠
p.Asp444Glu Single submitter Cardiovascular phenotype ⚠
p.Asp446_His447insAsnAsp Single submitter Cardiovascular phenotype
p.Asp457Glu Single submitter ⚠
p.Asp462Asn Single submitter Cardiovascular phenotype ⚠
p.Asp598Glu Single submitter Cardiovascular phenotype ⚠
p.Asp769Glu Single submitter Cardiovascular phenotype ⚠
p.Asp871Tyr Single submitter ⚠
p.Cys1110Trp Single submitter Tangier disease ⚠
p.Cys1142Phe Single submitter Cardiovascular phenotype ⚠
p.Cys1463Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys1660Trp Single submitter Cardiovascular phenotype ⚠
p.Cys1708Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys3Phe Single submitter Cardiovascular phenotype ⚠
p.Cys3Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys749Phe Single submitter ⚠
p.Gln1014His Single submitter Cardiovascular phenotype ⚠
p.Gln1327Glu Single submitter Cardiovascular phenotype ⚠
p.Gln133Pro Single submitter ⚠
p.Gln1457Glu Single submitter ⚠
p.Gln1491Glu Single submitter Cardiovascular phenotype ⚠
p.Gln1543His Single submitter ⚠
p.Gln188Lys Single submitter Tangier disease ⚠
p.Gln1900Glu Single submitter ⚠
p.Gln1908His Single submitter Cardiovascular phenotype ⚠
p.Gln21His Single submitter Cardiovascular phenotype ⚠
p.Gln24His Single submitter Cardiovascular phenotype ⚠
p.Gln283Lys Single submitter Cardiovascular phenotype ⚠
p.Gln493Glu Single submitter Cardiovascular phenotype ⚠
p.Gln597Glu Single submitter ⚠
p.Gln602Pro Single submitter Cardiovascular phenotype ⚠
p.Gln6Pro Single submitter Cardiovascular phenotype ⚠
p.Gln768His Single submitter Cardiovascular phenotype ⚠
p.Glu1058Ala Single submitter Cardiovascular phenotype ⚠
p.Glu1093Lys Single submitter Cardiovascular phenotype ⚠
p.Glu1136Asp Single submitter Cardiovascular phenotype ⚠
p.Glu1136Lys Single submitter ⚠
p.Glu1198Asp Single submitter ⚠
p.Glu1224Gly Single submitter Cardiovascular phenotype ⚠
p.Glu1304Asp Single submitter Cardiovascular phenotype ⚠
p.Glu1304Gly Single submitter Cardiovascular phenotype ⚠
p.Glu1386= Single submitter Tangier disease
p.Glu1403Gly Single submitter ⚠
p.Glu1420Asp Single submitter ⚠
p.Glu1433Lys Single submitter Cardiovascular phenotype ⚠
p.Glu1645Asp Single submitter Cardiovascular phenotype ⚠
p.Glu1891del Single submitter
p.Glu1898Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2026Gly Single submitter Cardiovascular phenotype ⚠
p.Glu2026Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2093Lys Single submitter Cardiovascular phenotype ⚠
p.Glu2170Asp Single submitter Cardiovascular phenotype ⚠
p.Glu2254Lys Single submitter Cardiovascular phenotype ⚠
p.Glu271Lys Single submitter Cardiovascular phenotype ⚠