143890.1.1 | Lebanon | | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient A1 in public... |
143890.1.2 | Lebanon | Male | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient A2 in public... |
143890.2.1 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient B1 in public... |
143890.2.2 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient B2 in public... |
143890.3.1 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient C1 in public... |
143890.3.2 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient C2 in public... |
143890.4.1 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient D1 in public... |
143890.4.2 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient D2 in public... |
143890.5 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | NM_000527.4:c.1171G>A | Heterozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient E1 in public... |
143890.6.1 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | NM_000527.4:c.1352T>C | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient F1 in public... |
143890.6.2 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | NM_000527.4:c.1352T>C, "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous, Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient F2 in public... |
143890.7.1 | Lebanon | Male | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient G1 in public... |
143890.7.2 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient G2 in public... |
143890.7.3 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient G3 in public... |
143890.8 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient I1 in public... |
143890.9 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | NM_000527.4:c.980dup | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient J1 in public... |
143890.10.1 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient K1 in public... |
143890.10.2 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient K2 in public... |
143890.11 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient L1 in public... |
143890.12 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient M1 in public... |
143890.13 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient N1 in public... |
143890.14 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient O1 in public... |
143890.15 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | NM_000527.4:c.980dup | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient P1 in public... |
143890.16 | Lebanon | Unknown | Yes | No | Hyperlipidemia | NM_000527.4:c.980dup | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient Q1 in public... |
143890.17 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient S1 in public... |
143890.18.1 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient U1 in public... |
143890.18.2 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient U2 in public... |
143890.19 | Lebanon | Unknown | Yes | No | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A, NM_000527.5:c.2177C>T | Heterozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient V1 in public... |
143890.20 | Lebanon | Unknown | Yes | Yes | Hyperlipidemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Fahed et al., 2011 | Patient W1 in public... |
143890.21.1 | Saudi Arabia | Male | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.2447_2450dupAGAA | Homozygous | Autosomal, Dominant | Lehrman et al. 1985 | |
143890.21.2 | Saudi Arabia | Female | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.2447_2450dupAGAA | Homozygous | Autosomal, Dominant | Lehrman et al. 1985 | Sister of 143890.21.... |
143890.21.3 | Saudi Arabia | Male | Yes | | Hypercholesterolemia | NM_000527.4:c.2447_2450dupAGAA | Heterozygous | Autosomal, Dominant | Lehrman et al. 1985 | Father of 143890.21.... |
143890.21.4 | Saudi Arabia | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.2447_2450dupAGAA | Heterozygous | Autosomal, Dominant | Lehrman et al. 1985 | Mother of 143890.21.... |
143890.22.01 | Arab | Male | Yes | | Premature coronary artery atherosclerosi... | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Proband |
143890.22.02 | Arab | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Wife of 143890.22.01 |
143890.22.03 | Arab | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Daughter of 143890.2... |
143890.22.04 | Arab | Male | Yes | | Xanthelasma; Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.22.01 |
143890.22.05 | Arab | Male | Yes | | Xanthelasma; Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.22.01 |
143890.22.06 | Arab | Male | Yes | | Atherosclerosis | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.22.01 |
143890.22.07 | Arab | Male | Yes | | Atherosclerosis | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.22.01 |
143890.22.08 | Arab | Male | Yes | | Atherosclerosis | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.22.01 |
143890.22.09 | Arab | Male | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.22.01 |
143890.22.10 | Arab | Female | Yes | | Atherosclerosis | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Daughter of 143890.2... |
143890.23.1 | Arab | Male | Yes | | Premature coronary artery atherosclerosi... | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Proband |
143890.23.2 | Arab | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Wife of 143890.23.1 |
143890.23.3 | Arab | Female | Yes | | Hypercholesterolemia; Diabetes mellitus | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Daughter of 143890.2... |
143890.23.4 | Arab | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Daughter of 143890.2... |
143890.23.5 | Arab | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Daughter of 143890.2... |
143890.23.6 | Arab | Male | Yes | | Xanthelasma; Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.23.1 |
143890.23.7 | Arab | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Daughter of 143890.2... |
143890.23.8 | Arab | Male | Yes | | Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Heterozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.23.1 |
143890.23.9 | Arab | Male | Yes | | Xanthelasma; Hypercholesterolemia | NM_000527.4:c.1706-2A>T | Homozygous | Autosomal, Dominant | Shawar et al. 2012 | Son of 143890.23.1 |
143890.24 | Lebanon | Female | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Lehrman et al, 1987 | |
143890.25 | Lebanon | Female | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Lehrman et al, 1987 | |
143890.26 | Lebanon | Male | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Lehrman et al, 1987 | |
143890.27 | Syria | Female | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Lehrman et al, 1987 | |
143890.28 | Palestine | Unknown | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | | Autosomal, Dominant | Oppenheim et al. 1991 | |
143890.29 | Palestine | Unknown | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | | Autosomal, Dominant | Oppenheim et al. 1991 | |
143890.30 | Palestine | Unknown | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | | Autosomal, Dominant | Oppenheim et al. 1991 | |
143890.31 | Palestine | Unknown | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | | Autosomal, Dominant | Oppenheim et al. 1991 | |
143890.32 | Palestine | Unknown | No | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | | Autosomal, Dominant | Oppenheim et al. 1991 | |
143890.33.1 | Saudi Arabia | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Proband |
143890.33.2 | Saudi Arabia | Male | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Father of 143890.33.... |
143890.33.3 | Saudi Arabia | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Mother of 143890.33.... |
143890.33.4 | Saudi Arabia | Male | Yes | | Increased LDL cholesterol concentration | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Brother of 143890.33... |
143890.33.5 | Saudi Arabia | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Sister of 143890.33.... |
143890.33.6 | Saudi Arabia | Female | Yes | | Increased LDL cholesterol concentration | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Sister of 143890.33.... |
143890.34.1 | Saudi Arabia | Female | Yes | | Increased LDL cholesterol concentration | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Proband |
143890.34.2 | Saudi Arabia | Female | Yes | | Increased LDL cholesterol concentration | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Sister of 143890.34.... |
143890.34.3 | Saudi Arabia | Male | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Father of 143890.34.... |
143890.34.4 | Saudi Arabia | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Mother of 143890.34.... |
143890.35.1 | Saudi Arabia | Male | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Proband |
143890.35.2 | Saudi Arabia | Female | Yes | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | Sister of 143890.35.... |
143890.36 | Saudi Arabia | Female | No | | Hypercholesterolemia | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | |
143890.37 | Saudi Arabia | Male | No | | Hypercholesterolemia | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | |
143890.38 | Saudi Arabia | Female | No | | Hypercholesterolemia | NM_000527.4:c.2027del | Homozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | |
143890.40 | Saudi Arabia | Female | No | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | |
143890.41 | Saudi Arabia | Male | No | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | |
143890.42 | Saudi Arabia | Male | No | | Hypercholesterolemia | NM_000527.4:c.2027del | Heterozygous | Autosomal, Dominant | Al-Allaf et al. 2016 | |
143890.43.1 | Syria | Unknown | Yes | Yes | Hypercholesterolemia; Tendon xanthomato... | NM_000527.4:c.1999T>C | Homozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | |
143890.43.2 | Syria | Unknown | Yes | Yes | Hypercholesterolemia; Tendon xanthomato... | NM_000527.4:c.1999T>C | Homozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | Belongs to the same ... |
143890.43.3 | Syria | Unknown | Yes | Yes | Hypercholesterolemia; Tendon xanthomat... | NM_000527.4:c.1999T>C | Homozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | Belongs to the same ... |
143890.43.4 | Syria | Unknown | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.1999T>C | Homozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | Belongs to the same ... |
143890.43.5 | Syria | Unknown | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.1999T>C | Homozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | Belongs to the same ... |
143890.43.6 | Syria | Unknown | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.1999T>C | Homozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | Belongs to the same ... |
143890.44.01 | Tunisia | Male | Yes | No | Diabetes mellitus; Corneal arcus; Pr... | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | The variant was foun... |
143890.44.02 | Tunisia | Female | Yes | No | | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | Wife and first cousi... |
143890.44.03 | Tunisia | Female | Yes | No | | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | First cousin of 1438... |
143890.44.04 | Tunisia | Male | Yes | No | Diabetes mellitus | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | Husband and First co... |
143890.44.05 | Tunisia | Female | Yes | Yes | Hypercholesterolemia; Tendon Xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.44.06 | Tunisia | Male | Yes | Yes | Hypercholesterolemia; Tendon xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Son of 143890.44.01 |
143890.44.07 | Tunisia | Female | Yes | Yes | Hypercholesterolemia; Tendon xanthom... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.44.08 | Tunisia | Female | Yes | Yes | Hypercholesterolemia; Tendon xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.44.09 | Tunisia | Male | Yes | Yes | Hypercholesterolemia; Tuberous xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Son of 143890.44.03 |
143890.44.10 | Tunisia | Male | Yes | Yes | Hypercholesterolemia; Tuberous xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Son of 143890.44.03 |
143890.44.11 | Tunisia | Male | Yes | No | | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | First cousin once re... |
143890.44.12 | Tunisia | Female | Yes | No | Obesity | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | First cousin once re... |
143890.44.13 | Tunisia | Female | Yes | Yes | | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.44.14 | Tunisia | Male | Yes | Yes | Hypercholesterolemia; Tuberous Xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Son of 143890.44.11 |
143890.44.15 | Tunisia | Male | Yes | Yes | Hypercholesterolemia; Tuberous xanthoma... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Son of 143890.44.11 |
143890.44.16 | Tunisia | Female | Yes | Yes | | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.44.17 | Tunisia | Female | Yes | Yes | Increased LDL cholesterol concentration | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.45.1 | Tunisia | Female | Yes | No | Obesity | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | |
143890.45.2 | Tunisia | Male | Yes | No | Obesity; Peripheral arterial stenosis | NM_000527.5:c.1477_1479delinsAGAGACA | Heterozygous | Autosomal, Dominant | Slimane et al. 2001 | Married to first cou... |
143890.45.3 | Tunisia | Female | Yes | No | Hypercholesterolemia; Tuberous xanthoma | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | Daughter of 143890.4... |
143890.46 | Tunisia | Female | No | No | Hypercholesterolemia; Tendon xanthomato... | NM_000527.5:c.1477_1479delinsAGAGACA | Homozygous | Autosomal, Dominant | Slimane et al. 2001 | |
143890.47 | Bahrain | Male | No | | Hypercholesterolemia | NM_000527.4:c.2439G>A | Homozygous | Autosomal, Dominant | Lehrman et al. 1985 | |
143890.48 | Lebanon | Unknown | | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Callis et al, 1998 | |
143890.48.1 | Oman | Female | Yes | Yes | Corneal arcus; Xanthelasma; Tendon xan... | NM_000527.4:c.272del | Homozygous | Autosomal, Dominant | Al-Hinai et al. 2013; Al-Rasadi et al, 2014 | Proband |
143890.48.2 | Oman | Male | Yes | | Premature coronary artery atherosclerosi... | NM_000527.4:c.272del | Homozygous | Autosomal, Dominant | Al-Hinai et al. 2013; Al-Rasadi et al, 2014 | Father of 143890.48.... |
143890.48.3 | Oman | Female | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.272del | Homozygous | Autosomal, Dominant | Al-Hinai et al. 2013; Al-Rasadi et al, 2014 | Sister of 143890.48.... |
143890.48.4 | Oman | Female | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.272del | Homozygous | Autosomal, Dominant | Al-Hinai et al. 2013; Al-Rasadi et al, 2014 | Sister of 143890.48.... |
143890.49 | Lebanon | Unknown | | | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Callis et al, 1998 | |
143890.50.1 | Lebanon | Male | Yes | No | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Hsia et al, 1996 | Proband |
143890.50.2 | Lebanon | Male | Yes | No | Hypercholesterolemia | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Hsia et al, 1996 | Son of 143890.50.1 |
143890.51 | Lebanon | Unknown | | | Hypercholesterolemia; Aortic valve sten... | NM_000527.4:c.1352T>C | Homozygous | Autosomal, Dominant | Fahed et al, 2017 | |
143890.52 | Lebanon | Female | Yes | Yes | Increased LDL cholesterol concentration | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al. 2016 | |
143890.53.1 | Lebanon | Female | Yes | No | Hypercholesterolemia; severe | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Recessive | Fahed et al. 2012 | |
143890.53.2 | Lebanon | Male | Yes | No | Hypercholesterolemia; severe | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Recessive | Fahed et al. 2012 | Sibling of 143890.53... |
143890.54.1 | Lebanon | Female | Yes | No | Hypercholesterolemia; severe | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Recessive | Fahed et al. 2012 | |
143890.54.2 | Lebanon | Male | Yes | No | Hypercholesterolemia; severe | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Recessive | Fahed et al. 2012 | Sibling of 143890.54... |
143890.55 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.532G>A, NM_000527.5:c.728G>A | Compound heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 53' in the ... |
143890.56 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1284C>G | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 99' in the ... |
143890.57 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1429G>A | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 218' in the... |
143890.58 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.4:c.-135C>G | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 352' in the... |
143890.59 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.979C>T | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 391' in the... |
143890.60 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1429G>A | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 423' in the... |
143890.61 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1294C>G | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 622' in the... |
143890.62 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1610del | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 634' in the... |
143890.63 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1555C>T | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 689' in the... |
143890.64 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.505_511del | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 720' in the... |
143890.65 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1381G>A | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 750' in the... |
143890.66 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.1555C>T | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 808' in the... |
143890.67 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.4:c.-120C>T | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 813' in the... |
143890.68 | United Arab Emirates | Unknown | | | Increased LDL cholesterol concentration | NM_000527.5:c.378C>A | Heterozygous | Autosomal, Dominant | Rimbert et al. 2021 | 'Patient 851' in the... |
143890.43.G.1 | Syria | Unknown | Yes | Yes | Hypercholesterolemia | NM_000527.4:c.1999T>C | Heterozygous | Autosomal, Dominant | Vergopoulos et al. 1997 | Group with unknown n... |
143890.G.1 | Lebanon | Unknown | | | Hypercholesterolemia; Abnormal heart v... | "Lebanese Allele" NM_000527.4:c.2043C>A | Homozygous | Autosomal, Dominant | Fahed et al, 2017 | Group of 17 patients... |
143890.G.2 | Lebanon | Unknown | | | Hypercholesterolemia; Abnormal heart va... | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Fahed et al, 2017 | Group of 5 patients ... |
143890.G.4.1 | Lebanon | Unknown | | | Hypercholesterolemia; Increased LDL chol... | "Lebanese Allele" NM_000527.4:c.2043C>A, NM_174936.4:c.45_47GCT[9], NM_174936.4:c.45_47GCT[10] | Heterozygous | Autosomal, Dominant | Abifadel et al. 2009 | Mutations identified... |
143890.G.4.2 | Lebanon | Unknown | | | Hypercholesterolemia; Increased LDL chol... | NM_000527.5:c.761A>C, NM_000527.5:c.1066G>T, NM_000527.5:c.1073G>A, NM_000527.5:c.1329G>A, NM_000527.5:c.2476C>T, NM_000527.5:c.1352T>G | Heterozygous | Autosomal, Dominant | Abifadel et al. 2009 | Mutations identified... |
143890.G.5.1 | Lebanon | Unknown | Yes | | Increased LDL cholesterol concentration | NM_000527.4:c.1171G>A | Heterozygous | Autosomal, Dominant | Fahed et al. 2016 | Group of 3 patients |
143890.G.5.2 | Lebanon | Unknown | Yes | | Increased LDL cholesterol concentration;... | "Lebanese Allele" NM_000527.4:c.2043C>A | Heterozygous | Autosomal, Dominant | Fahed et al. 2016 | Group of 5 patients |