| "Lebanese Allele" NM_000527.4:c.2043C>A | Lebanon; Palestine; Sy... | chr19:11120425 | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic, Uncertain Significance | Hypercholesterolemia, Familial, 1; Hypercholesterolemia, Familial, 4 | NG_009060.1:g.36045C>A; NM_000527.4:c.2043C>A; NP_000518.1:p.Cys681Ter | 121908031 | 3699 |
| NM_000527.4:c.*52G>A | United Arab Emirates | NC_000019.10:g.11131368G>A | Benign | Benign | | NG_009060.1:g.46988G>A; NM_000527.4:c.*52G>A; NP_000518.1:p.? | 14158 | 265910 |
| NM_000527.4:c.1060+10G>C | United Arab Emirates | NC_000019.10:g.11110781G>C | Benign | Benign | | NG_009060.1:g.26401G>C; NM_000527.4:c.1060+10G>C; NP_000518.1:p.? | 12710260 | 226709 |
| NM_000527.4:c.1171G>A | Lebanon; United Arab E... | NC_000019.10:g.11111624G>A | Benign | Benign, Likely Benign, Likely Pathogenic, Uncertain Significance | Hypercholesterolemia, Familial, 1; Hypercholesterolemia, Familial, 4 | NG_009060.1:g.27244G>A; NM_000527.4:c.1171G>A
; NP_000518.1:p.Ala391Thr | 11669576 | 183138 |
| NM_000527.4:c.-120C>T | United Arab Emirates | NC_000019.10:g.11089429C>T | Likely Benign, Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.5049C>T; NM_000527.4:c.-120C>T; NP_000518.1:p.? | 875989886 | 226299 |
| NM_000527.4:c.1352T>C | Lebanon | chr19:11113443 | Likely Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29063T>C; NM_000527.4:c.1352T>C; NP_000518.1:p.Ile451Thr | 879254874 | 251801 |
| NM_000527.4:c.1359-30C>T | United Arab Emirates | NC_000019.10:g.11113505C>T | Benign | Benign | | NG_009060.1:g.29125C>T; NM_000527.4:c.1359-30C>T; NP_000518.1:p.? | 1003723 | 251806 |
| NM_000527.4:c.-135C>G | United Arab Emirates | NC_000019.10:g.11089414C>G | Likely Pathogenic, Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.5034C>G; NM_000527.4:c.-135C>G; NP_000518.1:p.? | 879254375 | 250956 |
| NM_000527.4:c.1617C>T | United Arab Emirates | NC_000019.10:g.11116124C>T | Benign | Benign | | NG_009060.1:g.31744C>T; NM_000527.4:c.1617C>T; NP_000518.1:p.Pro539= | 5929 | 251936 |
| NM_000527.4:c.1705+56C>T | United Arab Emirates | NC_000019.10:g.11116268C>T | Benign, Likely Benign | Benign | | NG_009060.1:g.31888C>T; NM_000527.4:c.1705+56C>T; NP_000518.1:p.? | 4508523 | 251983 |
| NM_000527.4:c.1706-2A>T | Arab | chr19:11116857 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.32477A>T; NM_000527.4:c.1706-2A>T; "Arabic Allele" | 878854027 | 237865 |
| NM_000527.4:c.1959T>C | United Arab Emirates | NC_000019.10:g.11120205T>C | Benign, Likely Benign | Benign | | NG_009060.1:g.35825T>C; NM_000527.4:c.1959T>C; NP_000518.1:p.Val653= | 5925 | 252131 |
| NM_000527.4:c.1999T>C | Syria | chr19:11120381 | Likely Pathogenic, Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.36001T>C; NM_000527.4:c.1999T>C; NP_000518.1:p.Cys667Arg | 150021927 | 252163 |
| NM_000527.4:c.2027del | Saudi Arabia | chr19:11120409 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.36029del; NM_000527.4:c.2027del; NP_000518.1:p.Gly676fs | 875989937 | 226383 |
| NM_000527.4:c.2232A>G | United Arab Emirates | NC_000019.10:g.11123265A>G | Benign | Benign | | NG_009060.1:g.38885A>G; NM_000527.4:c.2232A>G; NP_000518.1:p.Arg744= | 5927 | 252262 |
| NM_000527.4:c.2389+46C>T | United Arab Emirates | NC_000019.10:g.11128131C>T | Benign | Benign | | NG_009060.1:g.43751C>T; NM_000527.4:c.2389+46C>T; NP_000518.1:p.? | 2738460 | 265907 |
| NM_000527.4:c.2439G>A | Bahrain | chr19:11129562 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.45182G>A; NM_000527.4:c.2439G>A; NP_000518.1:p.Trp813Ter | 121908032 | 3703 |
| NM_000527.4:c.2447_2450dupAGAA | Saudi Arabia | chr19:11129570-11129573 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.45190_45193dupAGAA; NM_000527.4:c.2447_2450dupAGAA; NP_000518.1:p.Asn817Lysfs | 387906302 | 3705 |
| NM_000527.4:c.272del | Oman | chr19:11102745 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.18365del; NM_000527.4:c.272del; NP_000518.1:p.Gly91fs | 1568592055 | 623312 |
| NM_000527.4:c.81C>T | United Arab Emirates | NC_000019.10:g.11100236C>T | Benign | Benign | | NG_009060.1:g.15856C>T; NM_000527.4:c.81C>T; NP_000518.1:p.Cys27= | 2228671 | 251010 |
| NM_000527.4:c.940+36G>A | United Arab Emirates | NC_000019.10:g.11107550G>A | Benign | Benign | | NG_009060.1:g.23170G>A; NM_000527.4:c.940+36G>A; NP_000518.1:p.? | 13306513 | 523739 |
| NM_000527.4:c.980dup | Lebanon | chr19:11110691 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.26311dup; NM_000527.4:c.980dup
; NP_000518.1:p.His327fs | 879254748 | 251584 |
| NM_000527.5:c.1066G>T | Lebanon | NC_000019.10:g.11111519G>T | Likely Pathogenic, Uncertain Significance | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.27139G>T; NM_000527.5:c.1066G>T; NP_000518.1:p.Asp356Tyr | 767767730 | 226345 |
| NM_000527.5:c.1073G>A | Lebanon | NC_000019.10:g.11111526G>A | Likely Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.27146G>A; NM_000527.5:c.1073G>A; NP_000518.1:p.Cys358Tyr | 875989915 | 226346 |
| NM_000527.5:c.1284C>G | United Arab Emirates | NC_000019.10:g.11113375C>G | Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.28995C>G; NM_000527.5:c.1284C>G; NP_000518.1:p.Asn428Lys | 368708058 | 251766 |
| NM_000527.5:c.1294C>G | United Arab Emirates | NC_000019.10:g.11113385C>G | Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29005C>G; NM_000527.5:c.1294C>G; NP_000518.1:p.Leu432Val | 730882100 | 183111 |
| NM_000527.5:c.1329G>A | Lebanon | NC_000019.10:g.11113420G>A | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29040G>A; NM_000527.5:c.1329G>A ; NP_000518.1:p.Trp443Ter | 879254867 | 251791 |
| NM_000527.5:c.1352T>G | Lebanon | NC_000019.10:g.11113443T>G | | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29063T>G; NM_000527.5:c.1352T>G; NP_000518.1:p.Ile451Ser | 879254874 | |
| NM_000527.5:c.1381G>A | United Arab Emirates | NC_000019.10:g.11113557G>A | Likely Benign, Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29177G>A; NM_000527.5:c.1381G>A ; NP_000518.1:p.Gly461Ser | 193922568 | 36456 |
| NM_000527.5:c.1429G>A | United Arab Emirates | NC_000019.10:g.11113605G>A | Uncertain Significance | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29225G>A; NM_000527.5:c.1429G>A; NP_000518.1:p.Asp477Asn | 780316072 | 251838 |
| NM_000527.5:c.1477_1479delinsAGAGACA | Tunisia | chr19:11113653-11113655 | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29273_29275delinsAGAGACA; NM_000527.5:c.1477_1479delinsAGAGACA; NP_000518.1:p.Ser493fs | 879254919 | 251866 |
| NM_000527.5:c.1555C>T | United Arab Emirates | NC_000019.10:g.11113731C>T | Likely Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.29351C>T; NM_000527.5:c.1555C>T; NP_000518.1:p.Pro519Ser | 875989923 | 251896 |
| NM_000527.5:c.1610del | United Arab Emirates | NC_000019.10:g.11116117del | Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.31737del; NM_000527.5:c.1610del; NP_000518.1:p.Gly537GlufsTer11 | 879254959 | 251934 |
| NM_000527.5:c.2177C>T | Lebanon | NC_000019.10:g.11123210C>T | Benign, Likely Benign, Uncertain Significance | Benign, Likely Benign | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.38830C>T; NM_000527.5:c.2177C>T; NP_000518.1:p.Thr726Ile | 45508991 | 36461 |
| NM_000527.5:c.2476C>T | Lebanon | NC_000019.10:g.11129599C>T | Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.45219C>T; NM_000527.5:c.2476C>T; NP_000518.1:p.Pro826Ser | 879255217 | 440699 |
| NM_000527.5:c.378C>A | United Arab Emirates | NC_000019.10:g.11105284C>A | Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.20904C>A; NM_000527.5:c.378C>A; NP_000518.1:p.Phe126Leu | 762139262 | 1321222 |
| NM_000527.5:c.505_511del | United Arab Emirates | NC_000019.10:g.11105411_11105417del | Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.21031_21037del; NM_000527.5:c.505_511del; NP_000518.1:p.Asn169ProfsTer35 | 1568594903 | 629644 |
| NM_000527.5:c.532G>A | United Arab Emirates | NC_000019.10:g.11105438G>A | Likely Pathogenic | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.21058G>A; NM_000527.5:c.532G>A; NP_000518.1:p.Asp178Asn | 879254565 | 251283 |
| NM_000527.5:c.728G>A | United Arab Emirates | NC_000019.10:g.11106598G>A | | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.22218G>A; NM_000527.5:c.728G>A; NP_000518.1:p.Cys243Tyr | | |
| NM_000527.5:c.761A>C | Lebanon | NC_000019.10:g.11106631A>C | Likely Pathogenic, Pathogenic | Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.22251A>C; NM_000527.5:c.761A>C ; NP_000518.1:p.Gln254Pro | 879254667 | 251437 |
| NM_000527.5:c.979C>T | United Arab Emirates | NC_000019.10:g.11110690C>T | Likely Benign, Likely Pathogenic, Uncertain Significance | Likely Pathogenic | Hypercholesterolemia, Familial, 1 | NG_009060.1:g.26310C>T; NM_000527.5:c.979C>T; NP_000518.1:p.His327Tyr | 747507019 | 251583 |
