BLM — 4851 ClinVar variants

Pathogenic 297

• c.3558+1G>A Multiple submitters Bloom syndrome
• p.Ala481fs Multiple submitters hereditary neoplastic syndrome
• p.Arg1139Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg191fs Multiple submitters Bloom syndrome
• p.Arg836fs Multiple submitters hereditary neoplastic syndrome
• p.Arg899Ter Multiple submitters hereditary neoplastic syndrome
• p.Asn202fs Multiple submitters Bloom syndrome
• p.Asn448fs Multiple submitters hereditary neoplastic syndrome
• p.Asp329fs Multiple submitters Bloom syndrome
• p.Asp542fs Multiple submitters hereditary neoplastic syndrome
• p.Asp928fs Multiple submitters hereditary neoplastic syndrome
• p.Cys361_Asp362delinsTer Multiple submitters hereditary neoplastic syndrome
• p.Cys704fs Multiple submitters Bloom syndrome
• p.Gln1040Ter Multiple submitters Bloom syndrome
• p.Gln1127Ter Multiple submitters Bloom syndrome
• p.Gln1283Ter Multiple submitters Bloom syndrome
• p.Gln370Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln548Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln645Ter Multiple submitters Bloom syndrome
• p.Gln700Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln909Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln937Ter Multiple submitters Bloom syndrome
• p.Gln975fs Multiple submitters hereditary neoplastic syndrome
• p.Glu277Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu279_Leu280insTer Multiple submitters Bloom syndrome
• p.Glu377fs Multiple submitters hereditary neoplastic syndrome
• p.Glu399Ter Multiple submitters Bloom syndrome
• p.Leu1159fs Multiple submitters hereditary neoplastic syndrome
• p.Leu1246fs Multiple submitters hereditary neoplastic syndrome
• p.Leu258fs Multiple submitters hereditary neoplastic syndrome
• p.Leu393fs Multiple submitters hereditary neoplastic syndrome
• p.Leu394fs Multiple submitters hereditary neoplastic syndrome
• p.Leu453Ter Multiple submitters Bloom syndrome
• p.Lys513Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys588fs Multiple submitters hereditary neoplastic syndrome
• p.Lys657fs Multiple submitters Bloom syndrome
• p.Lys662fs Multiple submitters Bloom syndrome
• p.Met348fs Multiple submitters Bloom syndrome
• p.Phe1087fs Multiple submitters BLM-related disorder
• p.Phe193_Phe194insTer Multiple submitters hereditary neoplastic syndrome
• p.Phe500fs Multiple submitters hereditary neoplastic syndrome
• p.Phe853fs Multiple submitters hereditary neoplastic syndrome
• p.Pro1297fs Multiple submitters hereditary neoplastic syndrome
• p.Pro210fs Multiple submitters Bloom syndrome
• p.Pro78fs Multiple submitters Bloom syndrome
• p.Ser104Ter Multiple submitters Bloom syndrome
• p.Ser186_Lys187delinsTer Multiple submitters Bloom syndrome
• p.Ser336delinsThrTer Multiple submitters Bloom syndrome
• p.Ser449fs Multiple submitters Bloom syndrome
• p.Ser595Ter Multiple submitters Bloom syndrome
• p.Ser706fs Multiple submitters Bloom syndrome
• p.Thr1074fs Multiple submitters hereditary neoplastic syndrome
• p.Thr1179fs Multiple submitters hereditary neoplastic syndrome
• p.Thr1243fs Multiple submitters hereditary neoplastic syndrome
• p.Thr203fs Multiple submitters Bloom syndrome
• p.Thr471fs Multiple submitters hereditary neoplastic syndrome
• p.Thr830fs Multiple submitters Bloom syndrome
• p.Trp154Ter Multiple submitters hereditary neoplastic syndrome
• p.Trp428Ter Multiple submitters Bloom syndrome
• p.Trp803fs Multiple submitters Bloom syndrome
• p.Trp803Ter Multiple submitters Bloom syndrome
• p.Tyr1170fs Multiple submitters hereditary neoplastic syndrome
• p.Tyr1170Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr864Ter Multiple submitters Bloom syndrome
• p.Val998fs Multiple submitters hereditary neoplastic syndrome
• c.3559-3A>G Single submitter Bloom syndrome
• c.959+2T>C Single submitter Bloom syndrome
• p.Ala1203_Leu1204insTer Single submitter Bloom syndrome
• p.Ala1206fs Single submitter Bloom syndrome
• p.Ala575fs Single submitter Bloom syndrome
• p.Arg101fs Single submitter Bloom syndrome
• p.Arg1086fs Single submitter endometrial carcinoma
• p.Arg1331Ter Single submitter Bloom syndrome
• p.Arg364_Gln365insTer Single submitter Bloom syndrome
• p.Arg643fs Single submitter Bloom syndrome
• p.Arg775fs Single submitter Bloom syndrome
• p.Arg775Ter Single submitter Bloom syndrome
• p.Asn1032fs Single submitter Bloom syndrome
• p.Asn1099fs Single submitter Bloom syndrome
• p.Asn515fs Single submitter Bloom syndrome
• p.Asn51fs Single submitter Bloom syndrome
• p.Asn66delinsThrLeuPheTer Single submitter Bloom syndrome
• p.Asn748fs Single submitter hereditary neoplastic syndrome
• p.Asn92fs Single submitter hereditary neoplastic syndrome
• p.Asp1053fs Single submitter Bloom syndrome
• p.Asp1060fs Single submitter hereditary neoplastic syndrome
• p.Asp1156fs Single submitter Bloom syndrome
• p.Asp133fs Single submitter Bloom syndrome
• p.Asp146_Ser147insTer Single submitter Bloom syndrome
• p.Asp207fs Single submitter Bloom syndrome
• p.Asp234fs Single submitter Bloom syndrome
• p.Asp264fs Single submitter Bloom syndrome
• p.Asp606fs Single submitter Bloom syndrome
• p.Asp722fs Single submitter Bloom syndrome
• p.Asp757fs Single submitter Bloom syndrome
• p.Asp795fs Single submitter Bloom syndrome
• p.Asp877fs Single submitter hereditary neoplastic syndrome
• p.Asp88fs Single submitter hereditary neoplastic syndrome
• p.Asp911fs Single submitter Bloom syndrome
• p.Asp957fs Single submitter Bloom syndrome
• p.Cys1030Ter Single submitter hereditary neoplastic syndrome
• p.Cys1055fs Single submitter Bloom syndrome
• p.Cys237fs Single submitter Bloom syndrome
• p.Cys607fs Single submitter hereditary neoplastic syndrome
• p.Cys685fs Single submitter Bloom syndrome
• p.Cys698fs Single submitter Bloom syndrome
• p.Cys940fs Single submitter Bloom syndrome
• p.Cys940Ter Single submitter Bloom syndrome
• p.Cys944fs Single submitter Bloom syndrome
• p.Cys989fs Single submitter Bloom syndrome
• p.Gln1089Ter Single submitter Bloom syndrome
• p.Gln1178fs Single submitter Bloom syndrome
• p.Gln1178Ter Single submitter Bloom syndrome
• p.Gln1210Ter Single submitter Bloom syndrome
• p.Gln1262Ter Single submitter Bloom syndrome
• p.Gln1343Ter Single submitter Bloom syndrome
• p.Gln174Ter Single submitter Bloom syndrome
• p.Gln197Ter Single submitter Bloom syndrome
• p.Gln253fs Single submitter Bloom syndrome
• p.Gln351Ter Single submitter Bloom syndrome
• p.Gln365Ter Single submitter Bloom syndrome
• p.Gln369Ter Single submitter Bloom syndrome
• p.Gln402fs Single submitter Bloom syndrome
• p.Gln497Ter Single submitter Bloom syndrome
• p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer Single submitter Bloom syndrome
• p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer Single submitter Bloom syndrome
• p.Gln585Ter Single submitter Bloom syndrome
• p.Gln723Ter Single submitter Bloom syndrome
• p.Gln752Ter Single submitter Bloom syndrome
• p.Gln802Ter Single submitter Bloom syndrome
• p.Gln838fs Single submitter Bloom syndrome
• p.Gln838Ter Single submitter Bloom syndrome
• p.Gln844Ter Single submitter Bloom syndrome
• p.Gln931fs Single submitter Bloom syndrome
• p.Gln931Ter Single submitter Bloom syndrome
• p.Gln932Ter Single submitter Bloom syndrome
• p.Glu1008fs Single submitter Bloom syndrome
• p.Glu1035Ter Single submitter Bloom syndrome
• p.Glu1193fs Single submitter Bloom syndrome
• p.Glu1212Ter Single submitter Bloom syndrome
• p.Glu1251fs Single submitter Bloom syndrome
• p.Glu1287fs Single submitter Bloom syndrome
• p.Glu1287Ter Single submitter hereditary neoplastic syndrome
• p.Glu254Ter Single submitter Bloom syndrome
• p.Glu265fs Single submitter Bloom syndrome
• p.Glu276fs Single submitter Bloom syndrome
• p.Glu276Ter Single submitter hereditary neoplastic syndrome
• p.Glu279Ter Single submitter Bloom syndrome
• p.Glu307Ter Single submitter Bloom syndrome
• p.Glu332fs Single submitter Bloom syndrome
• p.Glu413fs Single submitter Bloom syndrome
• p.Glu488Ter Single submitter Bloom syndrome
• p.Glu516Ter Single submitter Bloom syndrome
• p.Glu589fs Single submitter Bloom syndrome
• p.Glu598fs Single submitter Bloom syndrome
• p.Glu642fs Single submitter hereditary neoplastic syndrome
• p.Glu674Ter Single submitter Bloom syndrome
• p.Glu69Ter Single submitter
• p.Glu785fs Single submitter Bloom syndrome
• p.Glu976Ter Single submitter Bloom syndrome
• p.Gly1308Ter Single submitter Bloom syndrome
• p.Gly189fs Single submitter Bloom syndrome
• p.Gly241fs Single submitter hereditary neoplastic syndrome
• p.Gly522fs Single submitter Bloom syndrome
• p.Gly693_Gly694insTer Single submitter Bloom syndrome
• p.Gly693fs Single submitter Bloom syndrome
• p.Gly804fs Single submitter Bloom syndrome
• p.Gly96fs Single submitter Bloom syndrome
• p.His1014fs Single submitter Bloom syndrome
• p.His1019fs Single submitter hereditary neoplastic syndrome
• p.His1058fs Single submitter Bloom syndrome
• p.His1102fs Single submitter Bloom syndrome
• p.His16fs Single submitter hereditary neoplastic syndrome
• p.His176fs Single submitter Bloom syndrome
• p.His281fs Single submitter Bloom syndrome
• p.His660fs Single submitter Bloom syndrome
• p.His860fs Single submitter Bloom syndrome
• p.Ile1084fs Single submitter Bloom syndrome
• p.Ile1100fs Single submitter Bloom syndrome
• p.Ile847fs Single submitter Bloom syndrome
• p.Ile947fs Single submitter hereditary neoplastic syndrome
• p.Ile986fs Single submitter Bloom syndrome
• p.Leu1004fs Single submitter Bloom syndrome
• p.Leu1023fs Single submitter Bloom syndrome
• p.Leu1042fs Single submitter Bloom syndrome
• p.Leu1149fs Single submitter hereditary neoplastic syndrome
• p.Leu1159_Tyr1160insTer Single submitter hereditary neoplastic syndrome
• p.Leu1229fs Single submitter Bloom syndrome
• p.Leu1253Ter Single submitter Bloom syndrome
• p.Leu1260Ter Single submitter Bloom syndrome
• p.Leu208fs Single submitter Bloom syndrome
• p.Leu27_Ser28insTer Single submitter Bloom syndrome
• p.Leu411Ter Single submitter Bloom syndrome
• p.Leu543Ter Single submitter Bloom syndrome
• p.Leu608fs Single submitter Bloom syndrome
• p.Leu665fs Single submitter Bloom syndrome
• p.Leu762fs Single submitter Bloom syndrome
• p.Leu817fs Single submitter Bloom syndrome
• p.Leu908fs Single submitter Bloom syndrome
• p.Leu913fs Single submitter Bloom syndrome
• p.Leu991fs Single submitter Bloom syndrome
• p.Lys1068delinsMetTer Single submitter hereditary neoplastic syndrome
• p.Lys1153fs Single submitter Bloom syndrome
• p.Lys1207fs Single submitter Bloom syndrome
• p.Lys1227Ter Single submitter hereditary neoplastic syndrome
• p.Lys1231fs Single submitter Bloom syndrome
• p.Lys130fs Single submitter Bloom syndrome
• p.Lys1335Ter Single submitter Bloom syndrome
• p.Lys195Ter Single submitter Bloom syndrome
• p.Lys271fs Single submitter Bloom syndrome
• p.Lys272Ter Single submitter Bloom syndrome
• p.Lys31Ter Single submitter Bloom syndrome
• p.Lys418_Ser419insTer Single submitter Bloom syndrome
• p.Lys476fs Single submitter Bloom syndrome
• p.Lys535Ter Single submitter Bloom syndrome
• p.Lys578Ter Single submitter Bloom syndrome
• p.Lys756fs Single submitter Bloom syndrome
• p.Lys761fs Single submitter Bloom syndrome
• p.Lys933Ter Single submitter Bloom syndrome
• p.Met816fs Single submitter Bloom syndrome
• p.Phe1189fs Single submitter Bloom syndrome
• p.Phe1241fs Single submitter Bloom syndrome
• p.Phe492fs Single submitter hereditary neoplastic syndrome
• p.Phe807fs Single submitter Bloom syndrome
• p.Pro126fs Single submitter Bloom syndrome
• p.Pro432_Asp433insTer Single submitter Bloom syndrome
• p.Pro490fs Single submitter hereditary neoplastic syndrome
• p.Pro76fs Single submitter Bloom syndrome
• p.Pro967fs Single submitter Bloom syndrome
• p.Ser106Ter Single submitter Bloom syndrome
• p.Ser1093Ter Single submitter Bloom syndrome
• p.Ser1123fs Single submitter Bloom syndrome
• p.Ser1128fs Single submitter Bloom syndrome
• p.Ser1196fs Single submitter Bloom syndrome
• p.Ser1197fs Single submitter Bloom syndrome
• p.Ser1228fs Single submitter Bloom syndrome
• p.Ser1252fs Single submitter Bloom syndrome
• p.Ser1290fs Single submitter Bloom syndrome
• p.Ser149fs Single submitter hereditary neoplastic syndrome
• p.Ser163fs Single submitter Bloom syndrome
• p.Ser166Ter Single submitter Bloom syndrome
• p.Ser17Ter Single submitter Bloom syndrome
• p.Ser181fs Single submitter Bloom syndrome
• p.Ser186Ter Single submitter Bloom syndrome
• p.Ser212_Ser213insTer Single submitter Bloom syndrome
• p.Ser26fs Single submitter Bloom syndrome
• p.Ser304fs Single submitter hereditary neoplastic syndrome
• p.Ser315fs Single submitter hereditary neoplastic syndrome
• p.Ser328fs Single submitter Bloom syndrome
• p.Ser33fs Single submitter Bloom syndrome
• p.Ser419fs Single submitter hereditary neoplastic syndrome
• p.Ser42fs Single submitter Bloom syndrome
• p.Ser456fs Single submitter Bloom syndrome
• p.Ser456Ter Single submitter Bloom syndrome
• p.Ser460fs Single submitter Bloom syndrome
• p.Ser460Ter Single submitter Bloom syndrome
• p.Ser462fs Single submitter hereditary neoplastic syndrome
• p.Ser517fs Single submitter Bloom syndrome
• p.Ser577fs Single submitter Bloom syndrome
• p.Ser602Ter Single submitter Bloom syndrome
• p.Ser611Ter Single submitter Bloom syndrome
• p.Ser622fs Single submitter Bloom syndrome
• p.Ser729fs Single submitter Bloom syndrome
• p.Ser754Ter Single submitter hereditary neoplastic syndrome
• p.Thr1034fs Single submitter hereditary neoplastic syndrome
• p.Thr121fs Single submitter Bloom syndrome
• p.Thr359fs Single submitter Bloom syndrome
• p.Thr412_Glu413insTer Single submitter Bloom syndrome
• p.Thr528fs Single submitter Bloom syndrome
• p.Thr742fs Single submitter Bloom syndrome
• p.Thr832fs Single submitter Bloom syndrome
• p.Thr994fs Single submitter Bloom syndrome
• p.Trp567Ter Single submitter hereditary neoplastic syndrome
• p.Tyr1029Ter Single submitter Bloom syndrome
• p.Tyr1160Ter Single submitter Bloom syndrome
• p.Tyr1285fs Single submitter Bloom syndrome
• p.Tyr430_Arg431delinsTer Single submitter Bloom syndrome
• p.Tyr430Ter Single submitter Bloom syndrome
• p.Tyr699Ter Single submitter Bloom syndrome
• p.Tyr736fs Single submitter Bloom syndrome
• p.Tyr736Ter Single submitter Bloom syndrome
• p.Tyr764Ter Single submitter Bloom syndrome
• p.Tyr811Ter Single submitter Bloom syndrome
• p.Tyr865fs Single submitter Bloom syndrome
• p.Tyr888Ter Single submitter Bloom syndrome
• p.Tyr973fs Single submitter Bloom syndrome
• p.Val1321fs Single submitter Bloom syndrome
• p.Val59fs Single submitter Bloom syndrome
• p.Val711fs Single submitter Bloom syndrome
• p.Val874fs Single submitter Bloom syndrome
• p.Val970fs Single submitter Bloom syndrome
• c.2308-953_2555+4719del No assertion criteria Bloom syndrome
• p.Cys1036Phe No assertion criteria Bloom syndrome
• p.Leu737fs No assertion criteria Bloom syndrome
• p.Lys1200fs No assertion criteria colorectal cancer
• p.Lys884fs No assertion criteria Bloom syndrome
• p.Tyr894fs No assertion criteria colorectal cancer

Pathogenic/Likely pathogenic 92

• c.2193+1_2193+9del Multiple submitters hereditary neoplastic syndrome
• c.2193+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2308-2A>G Multiple submitters hereditary neoplastic syndrome
• c.2406+2T>G Multiple submitters Bloom syndrome
• c.3020-258A>G Multiple submitters Bloom syndrome
• c.3210+2del Multiple submitters hereditary neoplastic syndrome
• c.3358+1G>A Multiple submitters hereditary neoplastic syndrome
• c.3558+1G>T Multiple submitters hereditary neoplastic syndrome
• c.98+1G>A Multiple submitters Bloom syndrome
• c.98+1G>C Multiple submitters hereditary neoplastic syndrome
• c.98+1G>T Multiple submitters hereditary neoplastic syndrome
• c.99-1G>T Multiple submitters Bloom syndrome
• c.99-8_112del Multiple submitters hereditary neoplastic syndrome
• p.Arg1003Ter Multiple submitters Bloom syndrome
• p.Arg364Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg545fs Multiple submitters hereditary neoplastic syndrome
• p.Arg669Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg85fs Multiple submitters Bloom syndrome
• p.Arg959Ter Multiple submitters hereditary neoplastic syndrome
• p.Asn1141fs Multiple submitters hereditary neoplastic syndrome
• p.Asn454fs Multiple submitters Bloom syndrome
• p.Asn541fs Multiple submitters Bloom syndrome
• p.Asn782fs Multiple submitters hereditary neoplastic syndrome
• p.Asp1010fs Multiple submitters hereditary neoplastic syndrome
• p.Asp159_Phe160insTer Multiple submitters hereditary neoplastic syndrome
• p.Asp467fs Multiple submitters Bloom syndrome
• p.Cys1055Ser Multiple submitters hereditary neoplastic syndrome
• p.Cys120fs Multiple submitters Bloom syndrome
• p.Cys1226Ter Multiple submitters Bloom syndrome
• p.Gln100fs Multiple submitters hereditary neoplastic syndrome
• p.Gln10Ter Multiple submitters Bloom syndrome
• p.Gln1166Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln224Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln585fs Multiple submitters Bloom syndrome
• p.Gln632Ter Multiple submitters Bloom syndrome
• p.Gln802fs Multiple submitters hereditary neoplastic syndrome
• p.Gln819fs Multiple submitters Bloom syndrome
• p.Gln975Ter Multiple submitters Bloom syndrome
• p.Glu1213fs Multiple submitters Bloom syndrome
• p.Glu216Ter Multiple submitters Bloom syndrome
• p.Glu352Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu413Ter Multiple submitters Bloom syndrome
• p.Gly1049Ter Multiple submitters Bloom syndrome
• p.Gly1298_Ile1299insTer Multiple submitters hereditary neoplastic syndrome
• p.Gly804Ter Multiple submitters Bloom syndrome
• p.His641fs Multiple submitters hereditary neoplastic syndrome
• p.Ile243fs Multiple submitters Bloom syndrome
• p.Leu107fs Multiple submitters hereditary neoplastic syndrome
• p.Leu1145_Phe1146insTer Multiple submitters Bloom syndrome
• p.Leu1204Ter Multiple submitters Bloom syndrome
• p.Leu25fs Multiple submitters Bloom syndrome
• p.Leu25Ter Multiple submitters Bloom syndrome
• p.Leu342fs Multiple submitters Bloom syndrome
• p.Leu394Ter Multiple submitters Bloom syndrome
• p.Leu496fs Multiple submitters Bloom syndrome
• p.Leu730fs Multiple submitters Bloom syndrome
• p.Leu751fs Multiple submitters hereditary neoplastic syndrome
• p.Leu753Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu783_Tyr784insTer Multiple submitters Bloom syndrome
• p.Lys1147Ter Multiple submitters Bloom syndrome
• p.Lys1216Ter Multiple submitters Bloom syndrome
• p.Lys331fs Multiple submitters hereditary neoplastic syndrome
• p.Lys484Ter Multiple submitters Bloom syndrome
• p.Lys498Ter Multiple submitters Bloom syndrome
• p.Lys741Ter Multiple submitters Bloom syndrome
• p.Met1190fs Multiple submitters hereditary neoplastic syndrome
• p.Met439fs Multiple submitters Bloom syndrome
• p.Met951fs Multiple submitters Bloom syndrome
• p.Phe194fs Multiple submitters Bloom syndrome
• p.Pro287_Cys288insTer Multiple submitters Bloom syndrome
• p.Ser1094Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser1280Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser28Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser434Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser622Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser630Ter Multiple submitters Bloom syndrome
• p.Ser696fs Multiple submitters hereditary neoplastic syndrome
• p.Ser72fs Multiple submitters hereditary neoplastic syndrome
• p.Thr1223fs Multiple submitters hereditary neoplastic syndrome
• p.Thr171fs Multiple submitters hereditary neoplastic syndrome
• p.Thr385fs Multiple submitters hereditary neoplastic syndrome
• p.Thr477fs Multiple submitters Bloom syndrome
• p.Thr494fs Multiple submitters hereditary neoplastic syndrome
• p.Trp1288Ter Multiple submitters Bloom syndrome
• p.Trp230Ter Multiple submitters Bloom syndrome
• p.Trp505Ter Multiple submitters hereditary neoplastic syndrome
• p.Trp934Ter Multiple submitters Bloom syndrome
• p.Tyr764fs Multiple submitters hereditary neoplastic syndrome
• p.Tyr865Ter Multiple submitters Bloom syndrome
• p.Val1027fs Multiple submitters Bloom syndrome
• p.Val1180fs Multiple submitters hereditary neoplastic syndrome
• p.Val286fs Multiple submitters Bloom syndrome

Likely pathogenic 148

• c.1087+1G>A Multiple submitters Bloom syndrome
• c.1088-1G>A Multiple submitters Bloom syndrome
• c.1220+2T>G Multiple submitters Bloom syndrome
• c.1882+2T>C Multiple submitters Bloom syndrome
• c.2074+1G>T Multiple submitters Bloom syndrome
• c.2075-1G>A Multiple submitters Bloom syndrome
• c.2407-2A>G Multiple submitters hereditary neoplastic syndrome
• c.2555+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2556-1G>T Multiple submitters Bloom syndrome
• c.2556-2A>G Multiple submitters Bloom syndrome
• c.2662+2T>C Multiple submitters hereditary neoplastic syndrome
• c.2662+2T>G Multiple submitters Bloom syndrome
• c.2663-1G>C Multiple submitters Bloom syndrome
• c.2823+2T>A Multiple submitters Bloom syndrome
• c.2824-2A>T Multiple submitters hereditary neoplastic syndrome
• c.3013_3019+4del Multiple submitters Bloom syndrome
• c.3210+1G>A Multiple submitters hereditary neoplastic syndrome
• c.3359-2A>G Multiple submitters hereditary neoplastic syndrome
• c.3559-1G>A Multiple submitters Bloom syndrome
• c.3751+2T>C Multiple submitters Bloom syndrome
• c.799+1G>T Multiple submitters hereditary neoplastic syndrome
• c.960-1G>A Multiple submitters Bloom syndrome
• c.960-1G>T Multiple submitters hereditary neoplastic syndrome
• c.960-2A>C Multiple submitters Bloom syndrome
• p.Asp1064Val Multiple submitters Bloom syndrome
• p.Cys1055Arg Multiple submitters hereditary neoplastic syndrome
• p.Cys901Tyr Multiple submitters hereditary neoplastic syndrome
• p.Gln672Arg Multiple submitters Bloom syndrome
• c.1087+1G>T Single submitter Bloom syndrome
• c.1088-2A>G Single submitter Bloom syndrome
• c.1220+1G>C Single submitter Bloom syndrome
• c.1220+1G>T Single submitter Bloom syndrome
• c.1220+2T>C Single submitter Bloom syndrome
• c.1221-2A>G Single submitter Bloom syndrome
• c.1221-2A>T Single submitter Bloom syndrome
• c.1882+1G>C Single submitter Bloom syndrome
• c.1883-1G>A Single submitter Bloom syndrome
• c.2074+2T>C Single submitter Bloom syndrome
• c.2075-14T>G Single submitter Bloom syndrome
• c.2193+1G>T Single submitter hereditary neoplastic syndrome
• c.2307+1G>A Single submitter Bloom syndrome
• c.2307+2T>G Single submitter Bloom syndrome
• c.2403_2406del Single submitter
• c.2548_2555+12del Single submitter Bloom syndrome
• c.2555+1G>C Single submitter hereditary neoplastic syndrome
• c.2556-2A>C Single submitter Bloom syndrome
• c.2662+1G>T Single submitter
• c.2663-1G>A Single submitter Bloom syndrome
• c.2663-2A>G Single submitter Bloom syndrome
• c.2823_2823+3del Single submitter Bloom syndrome
• c.2824-1G>C Single submitter Bloom syndrome
• c.2824-2A>C Single submitter Bloom syndrome
• c.3211-2A>G Single submitter Bloom syndrome
• c.3358+1G>T Single submitter Bloom syndrome
• c.3359-1G>A Single submitter Bloom syndrome
• c.3554_3559-116del Single submitter Bloom syndrome
• c.3559-1G>T Single submitter Bloom syndrome
• c.3751+1G>A Single submitter Bloom syndrome
• c.3751+1G>T Single submitter Bloom syndrome
• c.3874+1G>A Single submitter Bloom syndrome
• c.3875-2A>T Single submitter Bloom syndrome
• c.741_742insALU Single submitter hereditary neoplastic syndrome
• c.799+1G>A Single submitter Bloom syndrome
• c.90_98+4del Single submitter hereditary neoplastic syndrome
• c.959_959+16del Single submitter Bloom syndrome
• c.959+1G>A Single submitter Bloom syndrome
• c.960-2A>G Single submitter Bloom syndrome
• c.98_98+10del Single submitter Bloom syndrome
• c.98_98+1del Single submitter Bloom syndrome
• c.99-1G>A Single submitter hereditary neoplastic syndrome
• c.-4-4929_82del Single submitter hereditary neoplastic syndrome
• p.Ala1167fs Single submitter Bloom syndrome
• p.Ala1169fs Single submitter Bloom syndrome
• p.Ala675fs Single submitter Bloom syndrome
• p.Arg859fs Single submitter Bloom syndrome
• p.Asn249fs Single submitter Bloom syndrome
• p.Asn268fs Single submitter Bloom syndrome
• p.Asn515Ter Single submitter Bloom syndrome
• p.Asp1076fs Single submitter Bloom syndrome
• p.Asp219fs Single submitter Bloom syndrome
• p.Asp297fs Single submitter Bloom syndrome
• p.Asp557fs Single submitter Bloom syndrome
• p.Cys1055Gly Single submitter hereditary neoplastic syndrome
• p.Cys901Ter Single submitter Bloom syndrome
• p.Gln1089fs Single submitter Bloom syndrome
• p.Gln174fs Single submitter Bloom syndrome
• p.Gln184Ter Single submitter Bloom syndrome
• p.Gln752fs Single submitter Bloom syndrome
• p.Glu1143Ter Single submitter Bloom syndrome
• p.Glu140Ter Single submitter Bloom syndrome
• p.Gly102fs Single submitter Bloom syndrome
• p.Gly397fs Single submitter Bloom syndrome
• p.His651fs Single submitter Bloom syndrome
• p.His885fs Single submitter Bloom syndrome
• p.His919fs Single submitter Bloom syndrome
• p.Ile1319fs Single submitter Bloom syndrome
• p.Ile893fs Single submitter Bloom syndrome
• p.Leu1151fs Single submitter Bloom syndrome
• p.Leu1282fs Single submitter Bloom syndrome
• p.Leu1301fs Single submitter Bloom syndrome
• p.Lys1148_Leu1149insTer Single submitter
• p.Lys1338fs Single submitter Bloom syndrome
• p.Lys347fs Single submitter Bloom syndrome
• p.Lys451fs Single submitter Bloom syndrome
• p.Lys839fs Single submitter Bloom syndrome
• p.Met1006fs Single submitter Bloom syndrome
• p.Met1339fs Single submitter Bloom syndrome
• p.Phe1146fs Single submitter Bloom syndrome
• p.Phe177fs Single submitter Bloom syndrome
• p.Pro172fs Single submitter Bloom syndrome
• p.Pro715_Leu716insTer Single submitter Bloom syndrome
• p.Ser1296fs Single submitter Bloom syndrome
• p.Ser147_Leu148insTer Single submitter Bloom syndrome
• p.Ser597Ter Single submitter Bloom syndrome
• p.Thr36fs Single submitter Bloom syndrome
• p.Thr581fs Single submitter Bloom syndrome
• p.Thr728fs Single submitter Bloom syndrome
• p.Trp881fs Single submitter Bloom syndrome
• p.Trp881Ter Single submitter Bloom syndrome
• p.Tyr1325Ter Single submitter Bloom syndrome
• p.Tyr736_Thr738delinsTer Single submitter Bloom syndrome
• p.Tyr973Ter Single submitter Bloom syndrome
• p.Val1115fs Single submitter Bloom syndrome
• p.Val1208fs Single submitter Bloom syndrome
• p.Val4fs Single submitter Bloom syndrome
• c.1220+1G>A No assertion criteria Bloom syndrome
• c.1883-2A>G No assertion criteria Bloom syndrome
• c.2407-1G>A No assertion criteria Bloom syndrome
• c.2555+1G>T No assertion criteria Bloom syndrome
• c.99-1G>C No assertion criteria Bloom syndrome
• p.Ala576fs No assertion criteria Bloom syndrome
• p.Arg404fs No assertion criteria Bloom syndrome
• p.Arg599fs No assertion criteria Bloom syndrome
• p.Asn936fs No assertion criteria Bloom syndrome
• p.Asp384fs No assertion criteria Bloom syndrome
• p.Gln941Ter No assertion criteria Bloom syndrome
• p.Glu1313Ter No assertion criteria Bloom syndrome
• p.Glu14Ter No assertion criteria BLM-related disorder
• p.Gly1134Ter No assertion criteria Bloom syndrome
• p.Gly1306fs No assertion criteria Bloom syndrome
• p.Gly952Ala No assertion criteria Bloom syndrome
• p.Ile373fs No assertion criteria Bloom syndrome
• p.Leu148fs No assertion criteria Bloom syndrome
• p.Met1Leu No assertion criteria Bloom syndrome
• p.Thr221fs No assertion criteria Bloom syndrome
• p.Thr907fs No assertion criteria Bloom syndrome
• p.Tyr1285Ter No assertion criteria Bloom syndrome
• p.Tyr784fs No assertion criteria Bloom syndrome

Conflicting classifications of pathogenicity 261

• c.1087+2T>C Single submitter Bloom syndrome
• c.1220+3A>G Single submitter hereditary neoplastic syndrome
• c.1220+5C>G Single submitter Bloom syndrome
• c.1221-2A>C Single submitter Bloom syndrome
• c.2074+5G>A Single submitter hereditary neoplastic syndrome
• c.2074+7A>G Single submitter Bloom syndrome
• c.2308-5C>T Single submitter Bloom syndrome
• c.2406+5A>G Single submitter hereditary neoplastic syndrome
• c.2407-7del Single submitter Bloom syndrome
• c.2556-8T>C Single submitter hereditary neoplastic syndrome
• c.2663-5G>C Single submitter hereditary neoplastic syndrome
• c.3019+11C>A Single submitter Bloom syndrome
• c.3019+7T>C Single submitter Bloom syndrome
• c.3020-15C>T Single submitter Bloom syndrome
• c.3020-19T>C Single submitter Bloom syndrome
• c.3020-7C>G Single submitter Bloom syndrome
• c.3210+2dup Single submitter hereditary neoplastic syndrome
• c.3210+4A>G Single submitter hereditary neoplastic syndrome
• c.3359-13A>G Single submitter hereditary neoplastic syndrome
• c.3558+2T>C Single submitter Bloom syndrome
• c.3751+10C>T Single submitter Bloom syndrome
• c.3751+9A>C Single submitter Bloom syndrome
• c.3752-3C>T Single submitter hereditary neoplastic syndrome
• c.3874+2T>C Single submitter hereditary neoplastic syndrome
• c.3875-1G>A Single submitter hereditary neoplastic syndrome
• c.3875-2A>G Single submitter Bloom syndrome
• c.4076+3A>G Single submitter hereditary neoplastic syndrome
• c.4077-5T>C Single submitter hereditary neoplastic syndrome
• c.799+7A>G Single submitter Bloom syndrome
• c.800-2A>G Single submitter Bloom syndrome
• c.800-4G>A Single submitter Bloom syndrome
• c.959+1_959+9del Single submitter Bloom syndrome
• c.960-3C>T Single submitter Bloom syndrome
• c.960-4G>A Single submitter Bloom syndrome
• c.98+2dup Single submitter hereditary neoplastic syndrome
• c.99-9A>T Single submitter hereditary neoplastic syndrome
• p.Ala1136Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1169Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1312Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1327Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1341Val Single submitter hereditary breast ovarian cancer syndrome ⚠
• p.Ala135Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala196Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala833Val Single submitter ovarian cancer ⚠
• p.Arg101Thr Single submitter Bloom syndrome ⚠
• p.Arg1098Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1139Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Arg132Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg132Trp Single submitter Bloom syndrome ⚠
• p.Arg1334fs Single submitter Bloom syndrome
• p.Arg1407Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg15Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg15Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Arg266= Single submitter hereditary neoplastic syndrome
• p.Arg266Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg364Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg404Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg407Thr Single submitter Bloom syndrome ⚠
• p.Arg489= Single submitter hereditary neoplastic syndrome
• p.Arg643His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg791Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg85Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1021Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1164Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn1393Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn152Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn405Ser Single submitter Bloom syndrome ⚠
• p.Asn46Ser Single submitter Bloom syndrome ⚠
• p.Asn534Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn625= Single submitter Bloom syndrome
• p.Asn748Ser Single submitter Bloom syndrome ⚠
• p.Asn82Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn861= Single submitter Bloom syndrome
• p.Asn92Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1079= Single submitter hereditary neoplastic syndrome
• p.Asp1080Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp110Gly Single submitter Bloom syndrome ⚠
• p.Asp1165Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1316Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1316Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp133Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp146Val Single submitter Bloom syndrome ⚠
• p.Asp153His Single submitter hereditary neoplastic syndrome ⚠
• p.Asp219Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp295Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp324= Single submitter hereditary neoplastic syndrome
• p.Asp362= Single submitter hereditary neoplastic syndrome
• p.Asp64Val Single submitter hereditary neoplastic syndrome ⚠
• p.Asp795Glu Single submitter Bloom syndrome ⚠
• p.Asp88Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Cys1055Tyr Single submitter Bloom syndrome ⚠
• p.Cys1067Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Cys318Arg Single submitter Bloom syndrome ⚠
• p.Gln1089= Single submitter hereditary neoplastic syndrome
• p.Gln1262= Single submitter hereditary neoplastic syndrome
• p.Gln1283= Single submitter hereditary neoplastic syndrome
• p.Gln174Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln365= Single submitter hereditary neoplastic syndrome
• p.Gln402Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln403His Single submitter Bloom syndrome ⚠
• p.Gln497Arg Single submitter Bloom syndrome ⚠
• p.Gln497Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Gln615Arg Single submitter ovarian cancer ⚠
• p.Gln83Arg Single submitter Bloom syndrome ⚠
• p.Glu1031= Single submitter hereditary neoplastic syndrome
• p.Glu1143Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu1213Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu1293= Single submitter Bloom syndrome
• p.Glu1293Gly Single submitter Bloom syndrome ⚠
• p.Glu1317Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu216Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu222Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu270Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu284= Single submitter hereditary neoplastic syndrome
• p.Glu306= Single submitter hereditary neoplastic syndrome
• p.Glu377Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu399Lys Single submitter Bloom syndrome ⚠
• p.Glu440Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Glu507Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu683= Single submitter hereditary neoplastic syndrome
• p.Glu69Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu880Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1298Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly1308Arg Single submitter Bloom syndrome ⚠
• p.Gly1354Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly189Ser Single submitter Bloom syndrome ⚠
• p.Gly241Asp Single submitter Bloom syndrome ⚠
• p.Gly682= Single submitter hereditary neoplastic syndrome
• p.Gly739Asp Single submitter Bloom syndrome ⚠
• p.Gly891Glu Single submitter Bloom syndrome ⚠
• p.His1014Arg Single submitter hereditary neoplastic syndrome ⚠
• p.His1091Asn Single submitter hereditary neoplastic syndrome ⚠
• p.His281Arg Single submitter hereditary neoplastic syndrome ⚠
• p.His374Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ile1005Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile151Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile238Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile248Val Single submitter Bloom syndrome ⚠
• p.Ile289Val Single submitter Bloom syndrome ⚠
• p.Ile309Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile366Leu Single submitter Bloom syndrome ⚠
• p.Ile366Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile386Val Single submitter Bloom syndrome ⚠
• p.Ile406Val Single submitter Hereditary cancer ⚠
• p.Ile558= Single submitter Bloom syndrome
• p.Ile593Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile720= Single submitter hereditary neoplastic syndrome
• p.Ile841Thr Single submitter Bloom syndrome ⚠
• p.Ile947Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu1114= Single submitter hereditary neoplastic syndrome
• p.Leu112Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Leu319Phe Single submitter Bloom syndrome ⚠
• p.Leu353Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Leu353Val Single submitter Bloom syndrome ⚠
• p.Leu511Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Leu60Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Leu716= Single submitter hereditary neoplastic syndrome
• p.Leu737Met Single submitter Bloom syndrome ⚠
• p.Leu788Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Leu966= Single submitter hereditary neoplastic syndrome
• p.Lys1133Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys1186Glu Single submitter Bloom syndrome ⚠
• p.Lys130del Single submitter Bloom syndrome
• p.Lys1329Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys1356Arg Single submitter Bloom syndrome ⚠
• p.Lys1366Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys1411Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys271Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys272= Single submitter hereditary neoplastic syndrome
• p.Lys273Asn Single submitter Bloom syndrome ⚠
• p.Lys323Arg Single submitter Hereditary cancer ⚠
• p.Lys331Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys339Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys344Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys514Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys755Glu Single submitter Hereditary cancer ⚠
• p.Lys756= Single submitter hereditary neoplastic syndrome
• p.Lys812Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Lys839Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys87= Single submitter hereditary neoplastic syndrome
• p.Met1Thr Single submitter hereditary neoplastic syndrome
• p.Met348Ile Single submitter Bloom syndrome ⚠
• p.Met350Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met439Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met439Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met450Val Single submitter hereditary neoplastic syndrome ⚠
• p.Pro1105Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Pro126Ser Single submitter Bloom syndrome ⚠
• p.Pro1320Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Pro173Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro355Gln Single submitter Bloom syndrome ⚠
• p.Pro490Arg Single submitter Bloom syndrome ⚠
• p.Pro609Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Pro707Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro76Leu Single submitter Bloom syndrome ⚠
• p.Pro825= Single submitter hereditary neoplastic syndrome
• p.Pro887= Single submitter hereditary neoplastic syndrome
• p.Pro94Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1209Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1290Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1342Pro Single submitter Bloom syndrome ⚠
• p.Ser1352Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1368Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1368Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ser1375Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser175Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser181= Single submitter Bloom syndrome
• p.Ser212Phe Single submitter Bloom syndrome ⚠
• p.Ser213Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ser215= Single submitter hereditary neoplastic syndrome
• p.Ser232Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ser269= Single submitter Bloom syndrome
• p.Ser312Ala Single submitter Hereditary cancer ⚠
• p.Ser312Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ser367Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser595= Single submitter hereditary neoplastic syndrome
• p.Ser714Cys Single submitter Hereditary cancer ⚠
• p.Ser778Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Ser854Asn Single submitter Bloom syndrome ⚠
• p.Ser897= Single submitter Bloom syndrome
• p.Thr1179Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr127Ala Single submitter Bloom syndrome ⚠
• p.Thr200Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Thr201Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr321Met Single submitter hereditary neoplastic syndrome ⚠
• p.Thr327Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr385Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Thr473Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr494Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr547Ile Single submitter Bloom syndrome ⚠
• p.Thr581Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr735= Single submitter hereditary neoplastic syndrome
• p.Trp803Arg Single submitter Bloom syndrome ⚠
• p.Tyr296= Single submitter hereditary neoplastic syndrome
• p.Tyr296Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr296Phe Single submitter Bloom syndrome ⚠
• p.Tyr430His Single submitter Bloom syndrome ⚠
• p.Tyr551Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr784Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr811Cys Single submitter Bloom syndrome ⚠
• p.Tyr888His Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr973= Single submitter Bloom syndrome
• p.Tyr974= Single submitter hereditary neoplastic syndrome
• p.Val1081Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Val1085Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Val1103Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val1103Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val118Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val1266= Single submitter hereditary neoplastic syndrome
• p.Val1281Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val128Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val180= Single submitter Bloom syndrome
• p.Val286Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val49Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val4Ala Single submitter Hereditary cancer ⚠
• p.Val711Ile Single submitter Bloom syndrome ⚠
• p.Val721Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val765Ile Single submitter Bloom syndrome ⚠
• p.Val852= Single submitter Bloom syndrome
• p.Val86Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Val874= Single submitter Bloom syndrome

Benign 70

• c.1088-218A>G Multiple submitters
• c.2075-14T>C Multiple submitters Bloom syndrome
• c.2193+61G>C Multiple submitters Bloom syndrome
• c.2193+84C>T Multiple submitters
• c.2308-50G>A Multiple submitters hereditary neoplastic syndrome
• c.2555+7T>C Multiple submitters hereditary neoplastic syndrome
• c.2556-130C>T Multiple submitters Bloom syndrome
• c.3020-189G>A Multiple submitters
• c.3020-311G>T Multiple submitters
• c.3020-408C>T Multiple submitters
• c.3358+32T>G Multiple submitters hereditary neoplastic syndrome
• c.3559-95G>A Multiple submitters
• c.3751+166A>G Multiple submitters
• c.3751+195C>T Multiple submitters
• c.3752-119C>T Multiple submitters
• c.3752-170C>T Multiple submitters
• c.4076+146A>G Multiple submitters
• c.800-120T>C Multiple submitters Bloom syndrome
• p.Glu140Gly Multiple submitters hereditary neoplastic syndrome
• p.His374= Multiple submitters hereditary neoplastic syndrome
• p.Pro868Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr298Met Multiple submitters hereditary neoplastic syndrome
• p.Val1321Ile Multiple submitters hereditary neoplastic syndrome
• c.1087+47T>C Single submitter
• c.1088-175del Single submitter
• c.1088-175dup Single submitter
• c.1088-216del Single submitter
• c.1088-217_1088-216del Single submitter
• c.1220+18del Single submitter Bloom syndrome
• c.1221-11del Single submitter Bloom syndrome
• c.1883-19A>C Single submitter Bloom syndrome
• c.2074+12dup Single submitter Bloom syndrome
• c.2074+280G>A Single submitter
• c.2075-176A>G Single submitter
• c.2075-285G>C Single submitter
• c.2307+23del Single submitter Bloom syndrome
• c.2406+16del Single submitter Bloom syndrome
• c.2406+16dup Single submitter Bloom syndrome
• c.2407-10_2407-9del Single submitter Bloom syndrome
• c.2407-9del Single submitter Bloom syndrome
• c.2407-9dup Single submitter Bloom syndrome
• c.2555+80_2555+83dup Single submitter
• c.2556-291T>G Single submitter
• c.2663-310C>T Single submitter
• c.2824-129del Single submitter
• c.2824-163_2824-159del Single submitter
• c.3019+105G>A Single submitter
• c.3019+184T>A Single submitter
• c.3020-209dup Single submitter
• c.3020-3del Single submitter Bloom syndrome
• c.3210+209A>G Single submitter
• c.3210+9del Single submitter Bloom syndrome
• c.3210+9dup Single submitter Bloom syndrome
• c.3558+185C>A Single submitter
• c.3752-15del Single submitter Bloom syndrome
• c.3874+285A>G Single submitter
• c.4076+278G>A Single submitter
• c.4077-130G>A Single submitter
• c.4077-61_4077-59dup Single submitter
• c.960-9del Single submitter Bloom syndrome
• c.98+11del Single submitter Bloom syndrome
• c.-4-253G>C Single submitter
• c.-5+16G>C Single submitter Bloom syndrome
• c.-5+274G>C Single submitter
• c.-5+295G>C Single submitter
• c.*108C>T Single submitter Bloom syndrome
• p.Pro868_Lys869delinsLeuGlu Single submitter Bloom syndrome
• p.Pro868fs Single submitter Bloom syndrome
• p.Thr134Ala Single submitter ovarian cancer
• c.1088-177_1088-175del No assertion criteria

Benign/Likely benign 20

• c.2075-12G>T Multiple submitters Bloom syndrome
• c.3019+17T>C Multiple submitters Bloom syndrome
• c.3210+44del Multiple submitters
• c.3359-121_3359-120insA Multiple submitters
• c.4076+4T>G Multiple submitters hereditary neoplastic syndrome
• c.4077-10C>T Multiple submitters hereditary neoplastic syndrome
• c.4077-59_4077-57dup Multiple submitters Bloom syndrome
• p.Ala1043Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala1142= Multiple submitters hereditary neoplastic syndrome
• p.Arg85Thr Multiple submitters hereditary neoplastic syndrome
• p.Asn152Ser Multiple submitters hereditary neoplastic syndrome
• p.Asp155= Multiple submitters hereditary neoplastic syndrome
• p.Leu1396= Multiple submitters hereditary neoplastic syndrome
• p.Leu574= Multiple submitters hereditary neoplastic syndrome
• p.Lys137Arg Multiple submitters hereditary neoplastic syndrome
• p.Lys205= Multiple submitters hereditary neoplastic syndrome
• p.Lys38= Multiple submitters hereditary neoplastic syndrome
• p.Pro1320= Multiple submitters hereditary neoplastic syndrome
• p.Pro58= Multiple submitters hereditary neoplastic syndrome
• p.Val1205Ile Multiple submitters hereditary neoplastic syndrome ⚠

Likely benign 1333

Showing the top 300 by review status; the full set is in the sitemap.

• c.2074+89A>G Multiple submitters
• c.2194-147G>A Multiple submitters
• c.2194-6A>G Multiple submitters Bloom syndrome
• c.2308-4C>G Multiple submitters Bloom syndrome
• c.2407-9T>C Multiple submitters Bloom syndrome
• c.2824-7A>G Multiple submitters Bloom syndrome
• c.3020-66T>C Multiple submitters Bloom syndrome
• c.3211-60C>A Multiple submitters
• c.3875-6T>C Multiple submitters Bloom syndrome
• c.959+17A>G Multiple submitters Bloom syndrome
• p.Ala1043= Multiple submitters hereditary neoplastic syndrome
• p.Ala1124= Multiple submitters hereditary neoplastic syndrome
• p.Ala1167= Multiple submitters hereditary neoplastic syndrome
• p.Ala1203= Multiple submitters hereditary neoplastic syndrome
• p.Ala1312= Multiple submitters hereditary neoplastic syndrome
• p.Ala135= Multiple submitters hereditary neoplastic syndrome
• p.Ala1382= Multiple submitters hereditary neoplastic syndrome
• p.Ala1388= Multiple submitters hereditary neoplastic syndrome
• p.Ala18= Multiple submitters hereditary neoplastic syndrome
• p.Ala252= Multiple submitters hereditary neoplastic syndrome
• p.Ala3= Multiple submitters Bloom syndrome
• p.Ala311= Multiple submitters hereditary neoplastic syndrome
• p.Ala583= Multiple submitters hereditary neoplastic syndrome
• p.Ala603= Multiple submitters Bloom syndrome
• p.Ala635= Multiple submitters hereditary neoplastic syndrome
• p.Ala678= Multiple submitters hereditary neoplastic syndrome
• p.Ala734= Multiple submitters hereditary neoplastic syndrome
• p.Ala772= Multiple submitters Bloom syndrome
• p.Ala790= Multiple submitters hereditary neoplastic syndrome
• p.Ala797= Multiple submitters hereditary neoplastic syndrome
• p.Ala831= Multiple submitters hereditary neoplastic syndrome
• p.Ala926= Multiple submitters hereditary neoplastic syndrome
• p.Ala948= Multiple submitters hereditary neoplastic syndrome
• p.Ala964= Multiple submitters Bloom syndrome
• p.Ala980= Multiple submitters hereditary neoplastic syndrome
• p.Arg1075= Multiple submitters hereditary neoplastic syndrome
• p.Arg1211= Multiple submitters hereditary neoplastic syndrome
• p.Arg132= Multiple submitters hereditary neoplastic syndrome
• p.Arg15= Multiple submitters Bloom syndrome
• p.Arg330= Multiple submitters hereditary neoplastic syndrome
• p.Arg364= Multiple submitters Bloom syndrome
• p.Arg407= Multiple submitters hereditary neoplastic syndrome
• p.Arg431= Multiple submitters hereditary neoplastic syndrome
• p.Arg483= Multiple submitters Bloom syndrome
• p.Arg599= Multiple submitters hereditary neoplastic syndrome
• p.Arg643= Multiple submitters hereditary neoplastic syndrome
• p.Arg775= Multiple submitters Bloom syndrome
• p.Arg818= Multiple submitters Bloom syndrome
• p.Arg836= Multiple submitters hereditary neoplastic syndrome
• p.Arg85= Multiple submitters hereditary neoplastic syndrome
• p.Arg883= Multiple submitters hereditary neoplastic syndrome
• p.Arg899= Multiple submitters hereditary neoplastic syndrome
• p.Arg910= Multiple submitters Bloom syndrome
• p.Asn1012= Multiple submitters hereditary neoplastic syndrome
• p.Asn1051= Multiple submitters hereditary neoplastic syndrome
• p.Asn1065= Multiple submitters hereditary neoplastic syndrome
• p.Asn1162= Multiple submitters hereditary neoplastic syndrome
• p.Asn1164= Multiple submitters hereditary neoplastic syndrome
• p.Asn1182= Multiple submitters Bloom syndrome
• p.Asn1184= Multiple submitters hereditary neoplastic syndrome
• p.Asn1239= Multiple submitters hereditary neoplastic syndrome
• p.Asn124= Multiple submitters hereditary neoplastic syndrome
• p.Asn1242= Multiple submitters hereditary neoplastic syndrome
• p.Asn1393= Multiple submitters Bloom syndrome
• p.Asn1406= Multiple submitters hereditary neoplastic syndrome
• p.Asn152= Multiple submitters Bloom syndrome
• p.Asn274= Multiple submitters hereditary neoplastic syndrome
• p.Asn398= Multiple submitters Bloom syndrome
• p.Asn417= Multiple submitters hereditary neoplastic syndrome
• p.Asn454= Multiple submitters Bloom syndrome
• p.Asn46= Multiple submitters Bloom syndrome
• p.Asn461= Multiple submitters Bloom syndrome
• p.Asn51= Multiple submitters hereditary neoplastic syndrome
• p.Asn523= Multiple submitters hereditary neoplastic syndrome
• p.Asn66= Multiple submitters hereditary neoplastic syndrome
• p.Asn677= Multiple submitters hereditary neoplastic syndrome
• p.Asn748= Multiple submitters hereditary neoplastic syndrome
• p.Asn782= Multiple submitters Bloom syndrome
• p.Asn79= Multiple submitters Bloom syndrome
• p.Asp1060= Multiple submitters hereditary neoplastic syndrome
• p.Asp1080= Multiple submitters hereditary neoplastic syndrome
• p.Asp1116= Multiple submitters Bloom syndrome
• p.Asp1156= Multiple submitters hereditary neoplastic syndrome
• p.Asp1158= Multiple submitters hereditary neoplastic syndrome
• p.Asp1188= Multiple submitters hereditary neoplastic syndrome
• p.Asp1316= Multiple submitters Bloom syndrome
• p.Asp153= Multiple submitters Bloom syndrome
• p.Asp161= Multiple submitters hereditary neoplastic syndrome
• p.Asp234= Multiple submitters hereditary neoplastic syndrome
• p.Asp239= Multiple submitters hereditary neoplastic syndrome
• p.Asp256= Multiple submitters hereditary neoplastic syndrome
• p.Asp264= Multiple submitters hereditary neoplastic syndrome
• p.Asp292= Multiple submitters hereditary neoplastic syndrome
• p.Asp294= Multiple submitters hereditary neoplastic syndrome
• p.Asp389= Multiple submitters Bloom syndrome
• p.Asp415= Multiple submitters hereditary neoplastic syndrome
• p.Asp433= Multiple submitters hereditary neoplastic syndrome
• p.Asp436= Multiple submitters hereditary neoplastic syndrome
• p.Asp442= Multiple submitters Bloom syndrome
• p.Asp467= Multiple submitters hereditary neoplastic syndrome
• p.Asp563= Multiple submitters hereditary neoplastic syndrome
• p.Asp569= Multiple submitters Bloom syndrome
• p.Asp606= Multiple submitters hereditary neoplastic syndrome
• p.Asp628= Multiple submitters hereditary neoplastic syndrome
• p.Asp70= Multiple submitters hereditary neoplastic syndrome
• p.Asp740= Multiple submitters Bloom syndrome
• p.Asp743= Multiple submitters hereditary neoplastic syndrome
• p.Asp795= Multiple submitters Bloom syndrome
• p.Asp928= Multiple submitters hereditary neoplastic syndrome
• p.Asp954= Multiple submitters Bloom syndrome
• p.Asp957= Multiple submitters hereditary neoplastic syndrome
• p.Asp983= Multiple submitters hereditary neoplastic syndrome
• p.Cys1036= Multiple submitters hereditary neoplastic syndrome
• p.Cys1063= Multiple submitters hereditary neoplastic syndrome
• p.Cys237= Multiple submitters hereditary neoplastic syndrome
• p.Cys444= Multiple submitters hereditary neoplastic syndrome
• p.Cys468= Multiple submitters hereditary neoplastic syndrome
• p.Cys799= Multiple submitters hereditary neoplastic syndrome
• p.Gln10= Multiple submitters hereditary neoplastic syndrome
• p.Gln1040= Multiple submitters Bloom syndrome
• p.Gln1166= Multiple submitters hereditary neoplastic syndrome
• p.Gln1178= Multiple submitters hereditary neoplastic syndrome
• p.Gln1201= Multiple submitters hereditary neoplastic syndrome
• p.Gln1343= Multiple submitters hereditary neoplastic syndrome
• p.Gln217= Multiple submitters hereditary neoplastic syndrome
• p.Gln224= Multiple submitters hereditary neoplastic syndrome
• p.Gln253= Multiple submitters Bloom syndrome
• p.Gln369= Multiple submitters Bloom syndrome
• p.Gln371= Multiple submitters hereditary neoplastic syndrome
• p.Gln533= Multiple submitters hereditary neoplastic syndrome
• p.Gln548= Multiple submitters hereditary neoplastic syndrome
• p.Gln6= Multiple submitters hereditary neoplastic syndrome
• p.Gln615= Multiple submitters hereditary neoplastic syndrome
• p.Gln672= Multiple submitters hereditary neoplastic syndrome
• p.Gln723= Multiple submitters hereditary neoplastic syndrome
• p.Gln752= Multiple submitters hereditary neoplastic syndrome
• p.Gln809= Multiple submitters Bloom syndrome
• p.Gln83= Multiple submitters hereditary neoplastic syndrome
• p.Gln84= Multiple submitters hereditary neoplastic syndrome
• p.Gln931= Multiple submitters Bloom syndrome
• p.Gln97= Multiple submitters hereditary neoplastic syndrome
• p.Glu11= Multiple submitters hereditary neoplastic syndrome
• p.Glu1224= Multiple submitters hereditary neoplastic syndrome
• p.Glu1251= Multiple submitters hereditary neoplastic syndrome
• p.Glu1258= Multiple submitters hereditary neoplastic syndrome
• p.Glu1277= Multiple submitters Bloom syndrome
• p.Glu1287= Multiple submitters Bloom syndrome
• p.Glu1313= Multiple submitters hereditary neoplastic syndrome
• p.Glu1317= Multiple submitters hereditary neoplastic syndrome
• p.Glu140= Multiple submitters Bloom syndrome
• p.Glu216= Multiple submitters Bloom syndrome
• p.Glu263= Multiple submitters hereditary neoplastic syndrome
• p.Glu265= Multiple submitters hereditary neoplastic syndrome
• p.Glu270= Multiple submitters hereditary neoplastic syndrome
• p.Glu279= Multiple submitters Bloom syndrome
• p.Glu290= Multiple submitters hereditary neoplastic syndrome
• p.Glu332= Multiple submitters hereditary neoplastic syndrome
• p.Glu346= Multiple submitters Bloom syndrome
• p.Glu377= Multiple submitters hereditary neoplastic syndrome
• p.Glu621= Multiple submitters Bloom syndrome
• p.Glu642= Multiple submitters Bloom syndrome
• p.Glu674= Multiple submitters hereditary neoplastic syndrome
• p.Glu745= Multiple submitters Bloom syndrome
• p.Glu880= Multiple submitters hereditary neoplastic syndrome
• p.Glu929= Multiple submitters hereditary neoplastic syndrome
• p.Gly103= Multiple submitters Bloom syndrome
• p.Gly1096= Multiple submitters hereditary neoplastic syndrome
• p.Gly1132= Multiple submitters hereditary neoplastic syndrome
• p.Gly1183= Multiple submitters hereditary neoplastic syndrome
• p.Gly1220= Multiple submitters hereditary neoplastic syndrome
• p.Gly1230= Multiple submitters hereditary neoplastic syndrome
• p.Gly1275= Multiple submitters hereditary neoplastic syndrome
• p.Gly1298= Multiple submitters hereditary neoplastic syndrome
• p.Gly1306= Multiple submitters Bloom syndrome
• p.Gly1308= Multiple submitters hereditary neoplastic syndrome
• p.Gly1378= Multiple submitters hereditary neoplastic syndrome
• p.Gly397= Multiple submitters hereditary neoplastic syndrome
• p.Gly425= Multiple submitters Bloom syndrome
• p.Gly466= Multiple submitters hereditary neoplastic syndrome
• p.Gly522= Multiple submitters hereditary neoplastic syndrome
• p.Gly590= Multiple submitters hereditary neoplastic syndrome
• p.Gly921= Multiple submitters hereditary neoplastic syndrome
• p.Gly952= Multiple submitters hereditary neoplastic syndrome
• p.Gly96= Multiple submitters hereditary neoplastic syndrome
• p.His1013= Multiple submitters Bloom syndrome
• p.His1014= Multiple submitters hereditary neoplastic syndrome
• p.His1019= Multiple submitters hereditary neoplastic syndrome
• p.His16= Multiple submitters hereditary neoplastic syndrome
• p.His378= Multiple submitters Bloom syndrome
• p.His495= Multiple submitters hereditary neoplastic syndrome
• p.His641= Multiple submitters hereditary neoplastic syndrome
• p.His651= Multiple submitters hereditary neoplastic syndrome
• p.His798= Multiple submitters hereditary neoplastic syndrome
• p.His805= Multiple submitters hereditary neoplastic syndrome
• p.His885= Multiple submitters hereditary neoplastic syndrome
• p.His963= Multiple submitters hereditary neoplastic syndrome
• p.His996= Multiple submitters Bloom syndrome
• p.Ile1039Met Multiple submitters hereditary neoplastic syndrome
• p.Ile1084= Multiple submitters Bloom syndrome
• p.Ile1319= Multiple submitters hereditary neoplastic syndrome
• p.Ile1376= Multiple submitters Bloom syndrome
• p.Ile151= Multiple submitters Bloom syndrome
• p.Ile238= Multiple submitters hereditary neoplastic syndrome
• p.Ile308= Multiple submitters hereditary neoplastic syndrome
• p.Ile760= Multiple submitters Bloom syndrome
• p.Ile770= Multiple submitters hereditary neoplastic syndrome
• p.Leu1004= Multiple submitters hereditary neoplastic syndrome
• p.Leu108= Multiple submitters Bloom syndrome
• p.Leu1119= Multiple submitters hereditary neoplastic syndrome
• p.Leu1149= Multiple submitters Bloom syndrome
• p.Leu1155= Multiple submitters hereditary neoplastic syndrome
• p.Leu1173= Multiple submitters Bloom syndrome
• p.Leu1181= Multiple submitters hereditary neoplastic syndrome
• p.Leu1219= Multiple submitters hereditary neoplastic syndrome
• p.Leu1249= Multiple submitters Bloom syndrome
• p.Leu1282= Multiple submitters hereditary neoplastic syndrome
• p.Leu1301= Multiple submitters Bloom syndrome
• p.Leu139= Multiple submitters hereditary neoplastic syndrome
• p.Leu148= Multiple submitters hereditary neoplastic syndrome
• p.Leu231= Multiple submitters hereditary neoplastic syndrome
• p.Leu25= Multiple submitters hereditary neoplastic syndrome
• p.Leu325= Multiple submitters hereditary neoplastic syndrome
• p.Leu341= Multiple submitters hereditary neoplastic syndrome
• p.Leu394= Multiple submitters hereditary neoplastic syndrome
• p.Leu423= Multiple submitters Bloom syndrome
• p.Leu427= Multiple submitters hereditary neoplastic syndrome
• p.Leu435= Multiple submitters Bloom syndrome
• p.Leu491= Multiple submitters hereditary neoplastic syndrome
• p.Leu639= Multiple submitters hereditary neoplastic syndrome
• p.Leu673= Multiple submitters hereditary neoplastic syndrome
• p.Leu680= Multiple submitters Bloom syndrome
• p.Leu681= Multiple submitters hereditary neoplastic syndrome
• p.Leu688= Multiple submitters hereditary neoplastic syndrome
• p.Leu697= Multiple submitters Bloom syndrome
• p.Leu701= Multiple submitters Bloom syndrome
• p.Leu751= Multiple submitters hereditary neoplastic syndrome
• p.Leu753= Multiple submitters hereditary neoplastic syndrome
• p.Leu848= Multiple submitters hereditary neoplastic syndrome
• p.Leu867= Multiple submitters hereditary neoplastic syndrome
• p.Leu879= Multiple submitters Bloom syndrome
• p.Leu991= Multiple submitters hereditary neoplastic syndrome
• p.Lys116= Multiple submitters Bloom syndrome
• p.Lys1202= Multiple submitters hereditary neoplastic syndrome
• p.Lys1247= Multiple submitters hereditary neoplastic syndrome
• p.Lys1270= Multiple submitters Bloom syndrome
• p.Lys1335= Multiple submitters Bloom syndrome
• p.Lys1337= Multiple submitters hereditary neoplastic syndrome
• p.Lys1346= Multiple submitters Bloom syndrome
• p.Lys1356= Multiple submitters Bloom syndrome
• p.Lys1358= Multiple submitters hereditary neoplastic syndrome
• p.Lys137= Multiple submitters hereditary neoplastic syndrome
• p.Lys1370= Multiple submitters Bloom syndrome
• p.Lys1372= Multiple submitters hereditary neoplastic syndrome
• p.Lys1403= Multiple submitters Bloom syndrome
• p.Lys185= Multiple submitters hereditary neoplastic syndrome
• p.Lys187= Multiple submitters Bloom syndrome
• p.Lys190= Multiple submitters hereditary neoplastic syndrome
• p.Lys285= Multiple submitters hereditary neoplastic syndrome
• p.Lys29= Multiple submitters Bloom syndrome
• p.Lys498= Multiple submitters hereditary neoplastic syndrome
• p.Lys588= Multiple submitters Bloom syndrome
• p.Lys594= Multiple submitters hereditary neoplastic syndrome
• p.Lys653= Multiple submitters Bloom syndrome
• p.Lys839= Multiple submitters Bloom syndrome
• p.Lys870= Multiple submitters hereditary neoplastic syndrome
• p.Lys872= Multiple submitters hereditary neoplastic syndrome
• p.Lys884= Multiple submitters hereditary neoplastic syndrome
• p.Phe1020= Multiple submitters Bloom syndrome
• p.Phe1233= Multiple submitters hereditary neoplastic syndrome
• p.Phe1326= Multiple submitters hereditary neoplastic syndrome
• p.Phe160= Multiple submitters Bloom syndrome
• p.Phe291= Multiple submitters Bloom syndrome
• p.Phe32= Multiple submitters Bloom syndrome
• p.Phe455= Multiple submitters hereditary neoplastic syndrome
• p.Phe479= Multiple submitters hereditary neoplastic syndrome
• p.Phe500= Multiple submitters hereditary neoplastic syndrome
• p.Phe659= Multiple submitters Bloom syndrome
• p.Phe686= Multiple submitters hereditary neoplastic syndrome
• p.Phe807= Multiple submitters Bloom syndrome
• p.Phe89= Multiple submitters hereditary neoplastic syndrome
• p.Pro1059= Multiple submitters hereditary neoplastic syndrome
• p.Pro1105= Multiple submitters hereditary neoplastic syndrome
• p.Pro115= Multiple submitters Bloom syndrome
• p.Pro126= Multiple submitters Bloom syndrome
• p.Pro1402= Multiple submitters Bloom syndrome
• p.Pro209= Multiple submitters Bloom syndrome
• p.Pro242= Multiple submitters Bloom syndrome
• p.Pro287= Multiple submitters hereditary neoplastic syndrome
• p.Pro30= Multiple submitters hereditary neoplastic syndrome
• p.Pro303= Multiple submitters hereditary neoplastic syndrome
• p.Pro438= Multiple submitters Bloom syndrome
• p.Pro465= Multiple submitters hereditary neoplastic syndrome
• p.Pro490= Multiple submitters hereditary neoplastic syndrome
• p.Pro521= Multiple submitters hereditary neoplastic syndrome
• p.Pro549= Multiple submitters hereditary neoplastic syndrome
• p.Pro609= Multiple submitters hereditary neoplastic syndrome
• p.Pro702= Multiple submitters Bloom syndrome
• p.Pro78= Multiple submitters hereditary neoplastic syndrome
• p.Pro835= Multiple submitters hereditary neoplastic syndrome
• p.Pro850= Multiple submitters hereditary neoplastic syndrome