NM_007294.3:c.441+18CTT[6] | Lebanon | NC_000017.11:g.43104086GAA[6] | Benign | | Breast Cancer | NG_005905.2:g.113880CTT[6]; NM_007294.3:c.441+18CTT[6] | 147856441 | 225704 |
NM_007294.4:c.1067A>G | Lebanon | chr17:43094464 | Benign | Association, Benign | Breast Cancer | NG_005905.2:g.123520A>G; NM_007294.4:c.1067A>G; NP_009225.1:p.Gln356Arg | 1799950 | 41803 |
NM_007294.4:c.1140dup | Yemen | NC_000017.11:g.43094391dup | Pathogenic | Likely Pathogenic | Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | NG_005905.2:g.123593dup; NM_007294.4:c.1140dup; NP_009225.1:p.Lys381GlufsTer3 | 876659327 | 231732 |
NM_007294.4:c.1224del | Egypt | NC_000017.11:g.43094309del | Pathogenic | Likely Pathogenic | Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | NG_005905.2:g.123677del; NM_007294.4:c.1224del; NP_009225.1:p.Val409Ter | 879255320 | 252436 |
NM_007294.4:c.1250A>G | United Arab Emirates | NC_000017.11:g.43094281T>C | Benign, Likely Benign, Uncertain Significance | Uncertain Significance | Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | NG_005905.2:g.123703A>G; NM_007294.4:c.1250A>G; NP_009225.1:p.Asn417Ser | 80357113 | 54174 |
NM_007294.4:c.131G>T | Lebanon | chr17:43115729 | Pathogenic | Pathogenic | Breast Cancer | NG_005905.2:g.102255G>T; NM_007294.4:c.131G>T; NP_009225.1:p.Cys44Phe | 80357446 | 54200 |
NM_007294.4:c.1456T>C | Lebanon | chr17:43094075 | Benign | Benign | Breast Cancer | NG_005905.2:g.123909T>C; NM_007294.4:c.1456T>C; NP_009225.1:p.Phe486Leu | 55906931 | 54258 |
NM_007294.4:c.1648A>C | Lebanon | chr17:43093883 | Benign | Benign | Breast Cancer | NG_005905.2:g.124101A>C; NM_007294.4:c.1648A>C; NP_009225.1:p.Asn550His | 56012641 | 37423 |
NM_007294.4:c.1703C>T | Lebanon | NC_000017.11:g.43093828G>A | Benign, Likely Benign, Uncertain Significance | Uncertain Significance | Breast Cancer | NG_005905.2:g.124156C>T; NM_007294.4:c.1703C>T; NP_009225.1:p.Pro568Leu | 80356910 | 54329 |
NM_007294.4:c.1771A>G | United Arab Emirates | NC_000017.11:g.43093760T>C | Benign, Likely Benign, Uncertain Significance | Uncertain Significance | Prostate Cancer | NG_005905.2:g.124224A>G; NM_007294.4:c.1771A>G; NP_009225.1:p.Ile591Val | 1064795358 | 421781 |
NM_007294.4:c.1772T>C | Lebanon | NC_000017.11:g.43093759A>G | Likely Benign, Uncertain Significance | Uncertain Significance | Breast Cancer | NG_005905.2:g.124225T>C; NM_007294.4:c.1772T>C; NP_009225.1:p.Ile591Thr | 80356859 | 54345 |
NM_007294.4:c.1845T>C | Lebanon | NC_000017.11:g.43093686A>G | Likely Benign | | Breast Cancer | NG_005905.2:g.124298T>C; NM_007294.4:c.1845T>C
; NP_009225.1:p.Ser615= | 1349314670 | 1551757 |
NM_007294.4:c.2077G>A | Lebanon | chr17:43093454 | Benign | Benign | Breast Cancer | NG_005905.2:g.124530G>A; NM_007294.4:c.2077G>A; NP_009225.1:p.Asp693Asn | 4986850 | 41808 |
NM_007294.4:c.2082C>T | Lebanon | chr17:43093449 | Benign | Benign | Breast Cancer | NG_005905.2:g.124535C>T; NM_007294.4:c.2082C>T; NP_009225.1:p.Ser694= | 1799949 | 125536 |
NM_007294.4:c.213-45T>A | Lebanon | chr17:43105001 | | | Breast Cancer | NG_005905.2:g.112983T>A; NM_007294.4:c.213-45T>A | 2054702554 | |
NM_007294.4:c.2158G>T | Lebanon | NC_000017.11:g.43093373C>A | Pathogenic | Pathogenic | Breast Cancer | NG_005905.2:g.124611G>T; NM_007294.4:c.2158G>T; NP_009225.1:p.Glu720Ter | 80356875 | 37453 |
NM_007294.4:c.2311T>C | Lebanon | chr17:43093220 | Benign | Benign | Breast Cancer | NG_005905.2:g.124764T>C; NM_007294.4:c.2311T>C; NP_009225.1:p.Leu771= | 16940 | 125554 |
NM_007294.4:c.2410_2411del | Lebanon | NC_000017.11:g.43093120_43093121del | | Pathogenic | Breast Cancer | NG_005905.2:g.124863_124864del; NM_007294.4:c.2410_2411del; NP_009225.1:p.Gln804Valfs*5 | | |
NM_007294.4:c.2458A>G | Lebanon | chr17:43093073 | Benign | Benign | Breast Cancer | NG_005905.2:g.124911A>G; NM_007294.4:c.2458A>G; NP_009225.1:p.Lys820Glu | 56082113 | 41810 |
NM_007294.4:c.2612C>T | Lebanon | chr17:43092919 | Benign | Benign | Breast Cancer | NG_005905.2:g.125065C>T; NM_007294.4:c.2612C>T; NP_009225.1:p.Pro871Leu | 799917 | 41812 |
NM_007294.4:c.3113A>G | Lebanon | chr17:43092418 | Benign | Benign | Breast Cancer | NG_005905.2:g.125566A>G; NM_007294.4:c.3113A>G; NP_009225.1:p.Glu1038Gly | 16941 | 41815 |
NM_007294.4:c.3119G>A | Lebanon | chr17:43092412 | Benign | Benign | Breast Cancer | NG_005905.2:g.125572G>A; NM_007294.4:c.3119G>A; NP_009225.1:p.Ser1040Asn | 4986852 | 17670 |
NM_007294.4:c.3228_3229del | Egypt; United Arab Emi... | NC_000017.11:g.43092304_43092305del | Pathogenic | Likely Pathogenic | Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | NG_005905.2:g.125679AG[1]; NM_007294.4:c.3228_3229del; NP_009225.1:p.Gly1077AlafsTer8 | 80357635 | 37516 |
NM_007294.4:c.3367G>T | Lebanon | NC_000017.11:g.43092164C>A | Likely Benign, Uncertain Significance | Uncertain Significance | Breast Cancer | NG_005905.2:g.125820G>T; NM_007294.4:c.3367G>T; NP_009225.1:p.Asp1123Tyr | 80356867 | 54860 |
NM_007294.4:c.34C>T | Lebanon | NC_000017.11:g.43124063G>A | Pathogenic, Uncertain Significance | Pathogenic | Breast Cancer | NG_005905.2:g.93921C>T; NM_007294.4:c.34C>T; NP_009225.1:p.Gln12Ter | 80357134 | 54902 |
NM_007294.4:c.3526G>A | Lebanon | chr17:43092005 | | Uncertain Significance | Breast Cancer | NG_005905.2:g.125979G>A; NM_007294.4:c.3526G>A; NP_009225.1:p.Val1176Ile | 777796838 | 565640 |
NM_007294.4:c.3548A>G | Lebanon | chr17:43091983 | Benign | Benign | Breast Cancer | NG_005905.2:g.126001A>G; NM_007294.4:c.3548A>G; NP_009225.1:p.Lys1183Arg | 16942 | 41818 |
NM_007294.4:c.4065_4068del | Egypt; United Arab Emi... | NC_000017.11:g.43091465_43091468del | Pathogenic | Likely Pathogenic | Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | NG_005905.2:g.126518_126521del; NM_007294.4:c.4065_4068del; NP_009225.1:p.Asn1355LysfsTer10 | 80357508 | 17674 |
NM_007294.4:c.4096+106G>A | Lebanon | chr17:43091329 | | | Breast Cancer | NG_005905.2:g.126655G>A; NM_007294.4:c.4096+106G>A | | |
NM_007294.4:c.4132G>A | Lebanon | NC_000017.11:g.43090997C>T | Benign, Likely Benign, Uncertain Significance | Uncertain Significance | Breast Cancer | NG_005905.2:g.126987G>A; NM_007294.4:c.4132G>A; NP_009225.1:p.Val1378Ile | 28897690 | 55111 |
NM_007294.4:c.424C>G | Lebanon | chr17:43104139 | | | Breast Cancer | NG_005905.2:g.113845C>G; NM_007294.4:c.424C>G; NP_009225.1:p.Pro142Ala | 397509156 | 55152 |
NM_007294.4:c.4308T>C | Lebanon | chr17:43082453 | Benign | Benign | Breast Cancer | NG_005905.2:g.135531T>C; NM_007294.4:c.4308T>C; NP_009225.1:p.Ser1436= | 1060915 | 125703 |
NM_007294.4:c.4327C>T | Lebanon | chr17:43082434 | Pathogenic | Pathogenic | Breast Cancer | NG_005905.2:g.135550C>T; NM_007294.4:c.4327C>T; NP_009225.1:p.Arg1443Ter | 41293455 | 17675 |
NM_007294.4:c.4357+117G>A | Lebanon | chr17:43082287 | Benign | Benign | Breast Cancer | NG_005905.2:g.135697G>A; NM_007294.4:c.4357+117G>A | 3737559 | 125708 |
NM_007294.4:c.442-34C>T | Lebanon | chr17:43099914 | Benign | Benign | Breast Cancer | NG_005905.2:g.118070C>T; NM_007294.4:c.442-34C>T | 799923 | 125864 |
NM_007294.4:c.4485-63C>G | Lebanon | chr17:43074584 | Benign | Benign | Breast Cancer | NG_005905.2:g.143400C>G; NM_007294.4:c.4485-63C>G | 273900734 | 209374 |
NM_007294.4:c.4636G>A | Lebanon | chr17:43074370 | Benign | Benign | Breast Cancer | NG_005905.2:g.143614G>A; NM_007294.4:c.4636G>A; NP_009225.1:p.Asp1546Asn | 28897691 | 55245 |
NM_007294.4:c.4654T>C | Lebanon | chr17:43074352 | Likely Benign | Likely Benign | Breast Cancer | NG_005905.2:g.143632T>C; NM_007294.4:c.4654T>C; NP_009225.1:p.Tyr1552His | 1265352633 | 433716 |
NM_007294.4:c.466C>A | Lebanon | chr17:43099856 | | | Breast Cancer | NG_005905.2:g.118128C>A; NM_007294.4:c.466C>A; NP_009225.1:p.Leu156Ile | 587778115 | 233464 |
NM_007294.4:c.483_484TG[1] | Lebanon | NC_000017.11:g.43099836_43099837CA[1] | Pathogenic | Pathogenic | Breast Cancer | NG_005905.2:g.118145_118146TG[1]; NM_007294.4:c.483_484TG[1]; NP_009225.1:p.Val162fs | 80357708 | 55304 |
NM_007294.4:c.4837A>G | Lebanon | chr17:43071077 | Benign | Benign | Breast Cancer | NG_005905.2:g.146907A>G; NM_007294.4:c.4837A>G; NP_009225.1:p.Ser1613Gly | 1799966 | 41827 |
NM_007294.4:c.4956G>A | Lebanon | chr17:43070958 | Benign | Benign | Breast Cancer | NG_005905.2:g.147026G>A; NM_007294.4:c.4956G>A; NP_009225.1:p.Met1652Ile | 1799967 | 41830 |
NM_007294.4:c.4985T>C | Lebanon | NC_000017.11:g.43070929A>G | Benign, Likely Benign | Uncertain Significance | Breast Cancer | NG_005905.2:g.147055T>C; NM_007294.4:c.4985T>C ; NP_009225.1:p.Phe1662Ser | 28897695 | 55339 |
NM_007294.4:c.5030_5033del | Lebanon | chr17:43067652-43067655 | Pathogenic | Pathogenic, Uncertain Significance | Breast Cancer | NG_005905.2:g.150332_150335del; NM_007294.4:c.5030_5033del; NP_009225.1:p.Thr1677fs | 80357580 | 37623 |
NM_007294.4:c.5153-66T>A | Lebanon | chr17:43063439 | | | Breast Cancer | NG_005905.2:g.154545T>A; NM_007294.4:c.5153-66T>A | 273901748 | 125789 |
NM_007294.4:c.5187G>C | Lebanon | chr17:43063339 | | | Breast Cancer | NG_005905.2:g.154645G>C; NM_007294.4:c.5187G>C; NP_009225.1:p.Leu1729= | 1420995606 | 865092 |
NM_007294.4:c.5194-26G>A | Lebanon | chr17:43057161 | | | Breast Cancer | NG_005905.2:g.160823G>A; NM_007294.4:c.5194-26G>A | 761683937 | |
NM_007294.4:c.5260G>C | United Arab Emirates | NC_000017.11:g.43057069C>G | Benign, Uncertain Significance | Uncertain Significance | Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | NG_005905.2:g.160915G>C; NM_007294.4:c.5260G>C; NP_009225.1:p.Glu1754Gln | 80357432 | 462666 |
NM_007294.4:c.536A>G | Lebanon | chr17:43099786 | Benign | Benign, Pathogenic | Breast Cancer | NG_005905.2:g.118198A>G; NM_007294.4:c.536A>G; NP_009225.1:p.Tyr179Cys | 56187033 | 37661 |
NM_007294.4:c.5406+68T>C | Lebanon | chr17:43049053 | Benign | Benign | Breast Cancer | NG_005905.2:g.168931T>C; NM_007294.4:c.5406+68T>C | 8176307 | 125842 |
NM_007294.4:c.5444G>A | Lebanon | NC_000017.11:g.43047666C>T | Pathogenic | Pathogenic | Breast Cancer | NG_005905.2:g.170318G>A; NM_007294.4:c.5444G>A; NP_009225.1:p.Trp1815Ter | 80356962 | 55580 |
NM_007294.4:c.548-56del | Lebanon | chr17:43097346 | Benign | Benign | Breast Cancer | NG_005905.2:g.120639del; NM_007294.4:c.548-56del | 1567804371 | 125894 |
NM_007294.4:c.81-91A>G | Lebanon | chr17:43115870 | | | Breast Cancer | NG_005905.2:g.102114A>G; NM_007294.4:c.81-91A>G | | |