ClinVar Miner

List of variants in gene RAD50 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 180
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_132556924)_(132557453_?)del
NC_000005.10:g.(?_132557315)_(132557463_?)del
NC_000005.10:g.(?_132557325)_(132557463_?)del
NC_000005.10:g.(?_132575767)_(132575938_?)del
NC_000005.10:g.(?_132575767)_(132579512_?)del
NC_000005.10:g.(?_132575767)_(132604056_?)del
NC_000005.10:g.(?_132575777)_(132575928_?)del
NC_000005.10:g.(?_132603294)_(132605005_?)del
NC_000005.10:g.(?_132637105)_(132638233_?)del
NC_000005.9:g.(?_131891616)_(131981313_?)del
NC_000005.9:g.(?_131893011)_(131978062_?)del
NC_000005.9:g.(?_131893017)_(131978056_?)del
NM_005732.3(RAD50):c.2156dupT (p.Glu723Glyfs*5) rs1554098706
NM_005732.4(RAD50):c.1002_1005del (p.Lys334fs) rs1554098203
NM_005732.4(RAD50):c.1019_1022del (p.Asn340fs)
NM_005732.4(RAD50):c.1048C>T (p.Gln350Ter)
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1106C>G (p.Ser369Ter) rs947142407
NM_005732.4(RAD50):c.1111del (p.Ile371fs)
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1168_1169del (p.Glu390fs) rs876660160
NM_005732.4(RAD50):c.1174C>T (p.Gln392Ter) rs1554098251
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1174del (p.Gln392fs) rs876660039
NM_005732.4(RAD50):c.1188dup (p.His397fs) rs770082735
NM_005732.4(RAD50):c.1189del (p.His397fs)
NM_005732.4(RAD50):c.1194del (p.Lys398fs) rs780230934
NM_005732.4(RAD50):c.1201A>T (p.Arg401Ter) rs199867309
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1235del (p.Asn412fs)
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259
NM_005732.4(RAD50):c.1238_1241del (p.Gln413fs)
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) rs1060501954
NM_005732.4(RAD50):c.1263del (p.Glu422fs)
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1271_1272del (p.Leu424fs) rs769047012
NM_005732.4(RAD50):c.1287_1290del (p.Ile429fs) rs1580993390
NM_005732.4(RAD50):c.129+1del rs1580974562
NM_005732.4(RAD50):c.1291_1295del (p.Glu431fs) rs1580993404
NM_005732.4(RAD50):c.1295_1299del (p.Ile432fs) rs1554098316
NM_005732.4(RAD50):c.1300_1306del (p.Asp434fs) rs587780147
NM_005732.4(RAD50):c.1311_1312del (p.Gly438fs)
NM_005732.4(RAD50):c.1329_1330insAAGTT (p.Glu444fs)
NM_005732.4(RAD50):c.1353_1356del (p.Ser451fs) rs1272811865
NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter) rs758641567
NM_005732.4(RAD50):c.1366G>T (p.Glu456Ter) rs876659132
NM_005732.4(RAD50):c.1391dup (p.Leu464fs) rs1580993525
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) rs587780150
NM_005732.4(RAD50):c.1395_1396delinsTT (p.Gln465_Gln466delinsHisTer)
NM_005732.4(RAD50):c.1412C>A (p.Ser471Ter)
NM_005732.4(RAD50):c.1432_1433dup (p.Asp478fs) rs1554098333
NM_005732.4(RAD50):c.1445delinsAACTTACC (p.Ile482fs)
NM_005732.4(RAD50):c.1504del (p.Met502fs)
NM_005732.4(RAD50):c.1507G>T (p.Glu503Ter)
NM_005732.4(RAD50):c.1515_1516del (p.Ile505fs)
NM_005732.4(RAD50):c.1544_1547del (p.Asp515fs) rs786203151
NM_005732.4(RAD50):c.154del (p.Ile52fs) rs876659837
NM_005732.4(RAD50):c.1576G>T (p.Glu526Ter)
NM_005732.4(RAD50):c.1579C>T (p.Gln527Ter)
NM_005732.4(RAD50):c.1583T>G (p.Leu528Ter)
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1633A>T (p.Lys545Ter) rs1253904315
NM_005732.4(RAD50):c.1648_1651dup (p.Gln551fs) rs1561641010
NM_005732.4(RAD50):c.1704del (p.Tyr569fs) rs1580994859
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1723C>T (p.Gln575Ter) rs980964237
NM_005732.4(RAD50):c.1765C>T (p.Gln589Ter) rs1561641132
NM_005732.4(RAD50):c.1774del (p.Asp592fs)
NM_005732.4(RAD50):c.1821_1849del (p.Asn607fs)
NM_005732.4(RAD50):c.1843del (p.Glu614_Leu615insTer)
NM_005732.4(RAD50):c.1849_1853del (p.Arg617fs) rs1561642039
NM_005732.4(RAD50):c.1850del (p.Arg617fs) rs1554098589
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1934_1935dup (p.Lys646fs)
NM_005732.4(RAD50):c.193dup (p.Thr65fs)
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) rs587781904
NM_005732.4(RAD50):c.1963C>T (p.Gln655Ter)
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2033_2034dup (p.Cys680fs) rs771855778
NM_005732.4(RAD50):c.2043C>A (p.Cys681Ter)
NM_005732.4(RAD50):c.2054dup (p.Arg686fs) rs1554098683
NM_005732.4(RAD50):c.2058_2059del (p.Arg686fs) rs1580997021
NM_005732.4(RAD50):c.2072_2073del (p.Glu691fs)
NM_005732.4(RAD50):c.2086G>T (p.Glu696Ter) rs1388500583
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs) rs587781454
NM_005732.4(RAD50):c.2165del (p.Lys722fs) rs397507178
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2190_2191delinsCT (p.Gly731Ter) rs1580997203
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs) rs864622393
NM_005732.4(RAD50):c.2263C>T (p.Gln755Ter) rs765975825
NM_005732.4(RAD50):c.2296_2300dup (p.Asp767fs)
NM_005732.4(RAD50):c.2299_2311del (p.Asp767fs) rs1211207020
NM_005732.4(RAD50):c.2314del (p.Glu772fs) rs1554099106
NM_005732.4(RAD50):c.2341del (p.Glu781fs)
NM_005732.4(RAD50):c.2371_2372del (p.Asp791fs)
NM_005732.4(RAD50):c.2386G>T (p.Glu796Ter) rs876658213
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2476C>T (p.Gln826Ter)
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895
NM_005732.4(RAD50):c.2517dup (p.Asp840fs) rs786201897
NM_005732.4(RAD50):c.2534dup (p.Ile846fs) rs1281337925
NM_005732.4(RAD50):c.2545_2546insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTGAATTGA (p.Asn849delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerArgAspArgAspHisProGlyTer)
NM_005732.4(RAD50):c.2569C>T (p.Gln857Ter) rs1060501973
NM_005732.4(RAD50):c.2605G>T (p.Glu869Ter) rs764449224
NM_005732.4(RAD50):c.2668C>T (p.Gln890Ter) rs1581002180
NM_005732.4(RAD50):c.2685dup (p.Thr896fs)
NM_005732.4(RAD50):c.2707del (p.Arg903fs) rs863224509
NM_005732.4(RAD50):c.2734del (p.Gln911_Val912insTer) rs1297931573
NM_005732.4(RAD50):c.2744dup (p.Leu915fs) rs876658976
NM_005732.4(RAD50):c.2767C>T (p.Gln923Ter)
NM_005732.4(RAD50):c.2786dup (p.Leu929fs)
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2792del (p.Asn931fs) rs1581004275
NM_005732.4(RAD50):c.2801dup (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter) rs397507177
NM_005732.4(RAD50):c.282del (p.Ile94fs) rs1561634357
NM_005732.4(RAD50):c.2862_2865del (p.Ile954fs)
NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter) rs1561647410
NM_005732.4(RAD50):c.2899del (p.Asp967fs) rs1554099372
NM_005732.4(RAD50):c.2929G>T (p.Glu977Ter) rs1554099388
NM_005732.4(RAD50):c.2929_2932del (p.Glu977fs) rs587780153
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs) rs768522804
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer) rs1060501942
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter)
NM_005732.4(RAD50):c.2944_2945insTT (p.Lys982fs)
NM_005732.4(RAD50):c.2946del (p.Lys982_Val983insTer)
NM_005732.4(RAD50):c.2956C>T (p.Gln986Ter) rs1561647533
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.2981_2982del (p.Lys994fs) rs1561647559
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) rs587780154
NM_005732.4(RAD50):c.2985_2989del (p.Glu995fs) rs1060501949
NM_005732.4(RAD50):c.3028dup (p.Thr1010fs) rs878854795
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3040C>T (p.Gln1014Ter) rs1581008368
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776
NM_005732.4(RAD50):c.3067_3070del (p.Leu1022_Thr1023insTer) rs1554099781
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer) rs753950483
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595
NM_005732.4(RAD50):c.3235_3238del (p.Lys1079fs)
NM_005732.4(RAD50):c.3266_3273del (p.Lys1089fs)
NM_005732.4(RAD50):c.3266_3273delinsT (p.Lys1089fs) rs878854797
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3277dup (p.Arg1093fs) rs1554099874
NM_005732.4(RAD50):c.3353del (p.Asn1118fs) rs1554099888
NM_005732.4(RAD50):c.3370_3373del (p.Tyr1124fs) rs1060501923
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.354del (p.Thr119fs) rs587781721
NM_005732.4(RAD50):c.379_383del (p.Val127fs) rs1554097758
NM_005732.4(RAD50):c.393_394insTT (p.Lys132fs) rs1458900761
NM_005732.4(RAD50):c.393dup (p.Lys132Ter) rs1458900761
NM_005732.4(RAD50):c.399_400del (p.Ala134fs) rs587781355
NM_005732.4(RAD50):c.410_411del (p.Asp137fs) rs1580987151
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) rs786203485
NM_005732.4(RAD50):c.415G>T (p.Glu139Ter)
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.471T>A (p.Cys157Ter) rs113018012
NM_005732.4(RAD50):c.474_481del (p.His158fs)
NM_005732.4(RAD50):c.474_483delinsAA (p.His158fs) rs1064792948
NM_005732.4(RAD50):c.52G>T (p.Glu18Ter)
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) rs876659255
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.551+1dup
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.624_627dup (p.Leu210fs)
NM_005732.4(RAD50):c.62dup (p.Asp21fs)
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) rs377429225
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707
NM_005732.4(RAD50):c.689del (p.Lys230fs)
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer) rs1580987798
NM_005732.4(RAD50):c.762_765dup (p.Lys256fs) rs1580991792
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) rs766315644
NM_005732.4(RAD50):c.877del (p.Met293fs)
NM_005732.4(RAD50):c.934C>T (p.Gln312Ter)
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.