Visual <p>Database genetische FH-varianten</p>

Database of Genetic FH Variants

Search by gene, c-position, p-position, NM number, or reference genome, or view the complete table by year. The archive through 2016 is in the second tab.

Data 2025

Starting in 2018 192 Archive through 2016 979
Year Gene Ref. Genome Chrom c-position p-position NM Number Pathogenicity
2025APOBGRCH372c.9175C>Tp.Arg3059CysNM_0003841x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025APOBGRCH372c.10580G>Ap.Arg3527GlnNM_00038465x (HET: 65, HOM: 0)5 pathogenic
2025APOBGRCH372c.10579C>Tp.Arg3527TrpNM_0003845x (HET: 5, HOM: 0)5 pathogenic
2025APOBGRCH372c.10672C>Tp.Arg3558CysNM_0003843x (HET: 3, HOM: 0)3 uncertain pathogenicity
2025APOBGRCH372c.13320delp.Glu4441Serfs*36NM_0003842x (HET: 2, HOM: 0)4 likely pathogenic
2025APOBGRCH372c.10182G>Tp.Lys3394AsnNM_0003842x (HET: 2, HOM: 0)4 likely pathogenic
2025APOBGRCH372c.10346A>Cp.Lys3449ThrNM_0003842x (HET: 2, HOM: 0)4 likely pathogenic
2025APOBGRCH372c.13028_13029delp.Tyr4343Cysfs*3NM_0003842x (HET: 2, HOM: 0)5 pathogenic
2025APOBGRCH372c.13527C>Ap.Tyr4509*NM_0003841x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1705+1G>Ap.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1705+1G>Tp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2139A>Gp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2390-346G>Ap.?NM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.621C>Tp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.666C>Tp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.694+2T>Cp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.818-1G>Ap.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.940+3_940+6delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1359-1G>Ap.?NM_00052710x (HET: 10, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(940+1_941-1)_(1186+1_1187-1)delp.?NM_0005275x (HET: 5, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.191-2A>Gp.?NM_0005275x (HET: 5, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.313+1G>Ap.?NM_0005275x (HET: 5, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.190+4A>Tp.?NM_0005274x (HET: 4, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2390-2A>Gp.?NM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.313+1G>Cp.?NM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1587-3C>Gp.?NM_0005272x (HET: 2, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.2140+103G>Tp.?NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.313+2T>Cp.?NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(?_-1)_(67+1_68-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(?_-187)_(190+1_191-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(1186+1_1187-1)_(1845+1_1846-1)dupp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(1705+1_1706-1)_(*1_?)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(1705+1_1706-1)_(1845+1_1846-1)dupp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(190+1_191-1)_(1186+1_1187-1)dupp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(190+1_191-1)_(940+1_941-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(313+1_314-1)_(940+1_941-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(67+1_68-1)_(190+1_191-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(67+1_68-1)_(940+1_941-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(694+1_695-1)_(817+1_818-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(817+1_818-1)_(940+1_941-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.(940+1_941-1)_(1845+1_1846-1)delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1056_1060+3delp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1186+1G>Tp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1187-10G>Ap.?NM_0005271x (HET: 0, HOM: 1)5 pathogenic
2025LDLRGRCH3719c.1358+1G>Ap.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.-139C>Gp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.-151C>Gp.?NM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.-152C>Tp.?NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1586+2T>Cp.?NM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1587-2A>Cp.?NM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.451G>Ap.Ala151ThrNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1195G>Ap.Ala399ThrNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1291G>Ap.Ala431ThrNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1618G>Ap.Ala540ThrNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1816G>Tp.Ala606SerNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1816G>Ap.Ala606ThrNM_0005272x (HET: 2, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.2113G>Cp.Ala705ProNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2312C>Tp.Ala771ValNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.769C>Tp.Arg257TrpNM_0005274x (HET: 4, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.907C>Tp.Arg303TrpNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1247G>Ap.Arg416GlnNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1246C>Tp.Arg416TrpNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1721G>Ap.Arg574HisNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1784G>Ap.Arg595GlnNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1898G>Ap.Arg633HisNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.241C>Tp.Arg81CysNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1213_1215delinsGAAp.Asn405GluNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1215C>Gp.Asn405LysNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1284C>Gp.Asn428LysNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1690A>Cp.Asn564HisNM_00052722x (HET: 22, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1691A>Gp.Asn564SerNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.300C>Gp.Asp100GluNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.503A>Cp.Asp168AlaNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.523G>Ap.Asp175AsnNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.661G>Ap.Asp221AsnNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.662A>Gp.Asp221GlyNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.671A>Tp.Asp224ValNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.678dupp.Asp227*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.681C>Gp.Asp227GluNM_0005274x (HET: 4, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.796G>Ap.Asp266AsnNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.877delp.Asp293Thrfs*77NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.902A>Gp.Asp301GlyNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.910G>Ap.Asp304AsnNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1060G>Ap.Asp354AsnNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1085A>Cp.Asp362AlaNM_0005273x (HET: 3, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.107_129delp.Asp36Valfs*8NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1243G>Cp.Asp415HisNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1414G>Ap.Asp472AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1414G>Tp.Asp472TyrNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1429G>Ap.Asp477AsnNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1504G>Tp.Asp502TyrNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1603G>Ap.Asp535AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1765G>Ap.Asp589AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.268G>Ap.Asp90AsnNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.326G>Ap.Cys109TyrNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.401G>Tp.Cys134PheNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.429C>Ap.Cys143*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.442T>Cp.Cys148ArgNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.499T>Cp.Cys167ArgNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.550T>Cp.Cys184ArgNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.612C>Gp.Cys204TrpNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.647G>Ap.Cys216TyrNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.666C>Ap.Cys222*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.665G>Tp.Cys222PheNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.763T>Cp.Cys255ArgNM_0005274x (HET: 4, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.81C>Gp.Cys27TrpNM_0005277x (HET: 7, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.939C>Gp.Cys313TrpNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.938_939delinsATp.Cys313TyrNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.986G>Ap.Cys329TyrNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1176C>Ap.Cys392*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2001T>Gp.Cys667TrpNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2043C>Ap.Cys681*NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2088C>Ap.Cys696*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2087G>Ap.Cys696TyrNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.762_763delinsTGp.Gln254_Cys255delinsHisGlyNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.760C>Gp.Gln254GluNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.761A>Cp.Gln254ProNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.97C>Tp.Gln33*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2033_2044delp.Gln678_Cys681delNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2215C>Tp.Gln739*NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.337G>Tp.Glu113*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.337G>Ap.Glu113LysNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.622G>Ap.Glu208LysNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.682G>Cp.Glu228GlnNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.682G>Ap.Glu228LysNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.862G>Ap.Glu288LysNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.949G>Ap.Glu317LysNM_0005272x (HET: 2, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1069G>Ap.Glu357LysNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.526G>Ap.Gly176SerNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.556G>Cp.Gly186ArgNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.940G>Ap.Gly314ArgNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1004G>Tp.Gly335ValNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1027G>Ap.Gly343SerNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1118G>Ap.Gly373AspNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1145G>Tp.Gly382ValNM_0005274x (HET: 4, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1432G>Ap.Gly478ArgNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1637G>Ap.Gly546AspNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1646G>Ap.Gly549AspNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1774G>Ap.Gly592ArgNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1775G>Ap.Gly592GluNM_0005275x (HET: 5, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2023G>Ap.Gly675SerNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1220A>Cp.His407ProNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1747C>Tp.His583TyrNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1966C>Ap.His656AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1322T>Ap.Ile441AsnNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1871_1873delp.Ile624delNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.41dupp.Leu14Phefs*38NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1265T>Cp.Leu422ProNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1435C>Gp.Leu479ValNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.669_676delp.Lys223Asnfs*2NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.932A>Gp.Lys311ArgNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1233G>Cp.Lys411AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.2T>Cp.Met1?NM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1207_1266delp.Phe403_Leu422delNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.542C>Gp.Pro181ArgNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.542C>Tp.Pro181LeuNM_0005272x (HET: 2, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1576C>Ap.Pro526ThrNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1688C>Ap.Pro563HisNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2054C>Tp.Pro685LeuNM_0005274x (HET: 4, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2096C>Tp.Pro699LeuNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.530C>Tp.Ser177LeuNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.858C>Ap.Ser286ArgNM_0005275x (HET: 5, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.917C>Tp.Ser306LeuNM_00052712x (HET: 12, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1340C>Gp.Ser447CysNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1408A>Tp.Ser470CysNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1478_1479delp.Ser493Cysfs*42NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1757C>Ap.Ser586*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2356A>Tp.Ser786CysNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.2538C>Gp.Ser846ArgNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1601C>Ap.Thr534AsnNM_0005271x (HET: 1, HOM: 0)4 likely pathogenic
2025LDLRGRCH3719c.1613C>Ap.Thr538AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1976C>Ap.Thr659AsnNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.11G>Ap.Trp4*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.131G>Ap.Trp44*NM_0005277x (HET: 7, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1329G>Cp.Trp443CysNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1448G>Ap.Trp483*NM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1729T>Cp.Trp577ArgNM_0005275x (HET: 5, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1394A>Gp.Tyr465CysNM_0005271x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025LDLRGRCH3719c.1285G>Ap.Val429MetNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1307T>Cp.Val436AlaNM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.1567G>Ap.Val523MetNM_0005273x (HET: 3, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2389G>Tp.Val797LeuNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2389G>Ap.Val797MetNM_0005271x (HET: 1, HOM: 0)5 pathogenic
2025LDLRGRCH3719c.2416dupp.Val806Glyfs*11NM_0005272x (HET: 2, HOM: 0)5 pathogenic
2025PCSK9GRCH371c.658G>Ap.Ala220ThrNM_1749364x (HET: 4, HOM: 0)3 uncertain pathogenicity
2025PCSK9GRCH371c.493C>Tp.Arg165TrpNM_1749361x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025PCSK9GRCH371c.644G>Ap.Arg215HisNM_1749361x (HET: 1, HOM: 0)4 likely pathogenic
2025PCSK9GRCH371c.709C>Tp.Arg237TrpNM_1749361x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025PCSK9GRCH371c.1486C>Tp.Arg496TrpNM_1749364x (HET: 4, HOM: 0)4 likely pathogenic
2025PCSK9GRCH371c.1496G>Ap.Arg499HisNM_1749361x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025PCSK9GRCH371c.286C>Tp.Arg96CysNM_1749361x (HET: 1, HOM: 0)3 uncertain pathogenicity
2025PCSK9GRCH371c.142G>Ap.Glu48LysNM_1749361x (HET: 1, HOM: 0)3 uncertain pathogenicity

Explanation of the Data

Source of data
Amsterdam UMC, VUmc Campus, Department of Human Genetics, Genome Analysis Lab.
Archive through 2016
The data through 2016 comes from JoJo Genetics. That dataset has been frozen and will no longer be updated.
Updated as of
2025. We aim to update the data annually.
Questions and Owner Information
Amsterdam UMC, Department of Human Genetics, Genome Analysis Lab, is the owner of the data. The LEEFH Foundation facilitates the presentation of this data on its website. Questions about the data should be directed to Linda Zuurbier, l.c.zuurbier@amsterdamumc.nl.
Abbreviations Used
Ref. Genoom
referentiegenoom (reference genome)
HET
heterozygous
HOM
homozygous
MOS
mosaic

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