NBN — 3346 ClinVar variants

Pathogenic 183

• c.1397+1del Multiple submitters aplastic anemia
• p.Arg445Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg456fs Multiple submitters Nijmegen breakage syndrome
• p.Arg546_Ser547insTer Multiple submitters hereditary neoplastic syndrome
• p.Asn30fs Multiple submitters hereditary neoplastic syndrome
• p.Asp61fs Multiple submitters hereditary neoplastic syndrome
• p.Cys478fs Multiple submitters Nijmegen breakage syndrome
• p.Gln326Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln344Ter Multiple submitters aplastic anemia
• p.Gln391Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln473Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln494fs Multiple submitters Nijmegen breakage syndrome
• p.Gln506Ter Multiple submitters Nijmegen breakage syndrome
• p.Gln681Ter Multiple submitters Nijmegen breakage syndrome
• p.Gln84Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu146Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu510Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu718Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly100Ter Multiple submitters hereditary neoplastic syndrome
• p.Ile132fs Multiple submitters hereditary neoplastic syndrome
• p.Leu128Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu165fs Multiple submitters hereditary neoplastic syndrome
• p.Leu281fs Multiple submitters hereditary neoplastic syndrome
• p.Leu281Ter Multiple submitters aplastic anemia
• p.Lys219fs Multiple submitters prostate cancer, hereditary
• p.Lys233fs Multiple submitters Nijmegen breakage syndrome
• p.Lys385fs Multiple submitters hereditary neoplastic syndrome
• p.Lys686Ter Multiple submitters hereditary neoplastic syndrome
• p.Phe567fs Multiple submitters hereditary neoplastic syndrome
• p.Pro306fs Multiple submitters hereditary neoplastic syndrome
• p.Pro381fs Multiple submitters Nijmegen breakage syndrome
• p.Ser343Ter Multiple submitters Nijmegen breakage syndrome
• p.Ser347fs Multiple submitters Nijmegen breakage syndrome
• p.Ser530fs Multiple submitters Nijmegen breakage syndrome
• p.Ser661Ter Multiple submitters hereditary neoplastic syndrome
• p.Thr493fs Multiple submitters hereditary neoplastic syndrome
• p.Thr90_Leu91insTer Multiple submitters hereditary neoplastic syndrome
• p.Tyr363Ter Multiple submitters aplastic anemia
• p.Val157fs Multiple submitters Nijmegen breakage syndrome
• p.Val78fs Multiple submitters hereditary neoplastic syndrome
• c.481-2A>C Single submitter Nijmegen breakage syndrome
• c.992_994+3del Single submitter Nijmegen breakage syndrome
• p.Ala183fs Single submitter Nijmegen breakage syndrome
• p.Ala241delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaLysLysLysLysLysLysLysArgAsnTer Single submitter Nijmegen breakage syndrome
• p.Arg425Ter Single submitter hereditary neoplastic syndrome
• p.Arg546fs Single submitter
• p.Arg594fs Single submitter Nijmegen breakage syndrome
• p.Arg624fs Single submitter hereditary neoplastic syndrome
• p.Arg670fs Single submitter Nijmegen breakage syndrome
• p.Arg724_Gln725delinsSerTer Single submitter Nijmegen breakage syndrome
• p.Asn209fs Single submitter Nijmegen breakage syndrome
• p.Asn256fs Single submitter Nijmegen breakage syndrome
• p.Asn277fs Single submitter Nijmegen breakage syndrome
• p.Asn511fs Single submitter Nijmegen breakage syndrome
• p.Asn517fs Single submitter hereditary neoplastic syndrome
• p.Asn71fs Single submitter Nijmegen breakage syndrome
• p.Asp284fs Single submitter Nijmegen breakage syndrome
• p.Asp349fs Single submitter Nijmegen breakage syndrome
• p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer Single submitter Nijmegen breakage syndrome
• p.Asp469fs Single submitter Nijmegen breakage syndrome
• p.Asp519fs Single submitter Nijmegen breakage syndrome
• p.Asp527_Leu528insTer Single submitter hereditary neoplastic syndrome
• p.Asp577fs Single submitter hereditary neoplastic syndrome
• p.Asp70fs Single submitter Nijmegen breakage syndrome
• p.Cys116Ter Single submitter Nijmegen breakage syndrome
• p.Cys163Ter Single submitter Nijmegen breakage syndrome
• p.Cys167fs Single submitter Nijmegen breakage syndrome
• p.Cys285Ter Single submitter Nijmegen breakage syndrome
• p.Cys407Ter Single submitter Nijmegen breakage syndrome
• p.Cys478Ter Single submitter Nijmegen breakage syndrome
• p.Gln189fs Single submitter hereditary neoplastic syndrome
• p.Gln234Ter Single submitter Nijmegen breakage syndrome
• p.Gln279fs Single submitter Nijmegen breakage syndrome
• p.Gln398Ter Single submitter Nijmegen breakage syndrome
• p.Gln430Ter Single submitter hereditary neoplastic syndrome
• p.Gln448Ter Single submitter
• p.Gln494Ter Single submitter Nijmegen breakage syndrome
• p.Gln565fs Single submitter Nijmegen breakage syndrome
• p.Gln565Ter Single submitter Nijmegen breakage syndrome
• p.Gln583fs Single submitter Nijmegen breakage syndrome
• p.Gln59fs Single submitter hereditary neoplastic syndrome
• p.Gln616Ter Single submitter hereditary neoplastic syndrome
• p.Gln730Ter Single submitter Nijmegen breakage syndrome
• p.Glu111Ter Single submitter Nijmegen breakage syndrome
• p.Glu175Ter Single submitter hereditary neoplastic syndrome
• p.Glu185fs Single submitter Nijmegen breakage syndrome
• p.Glu194fs Single submitter Nijmegen breakage syndrome
• p.Glu202Ter Single submitter Nijmegen breakage syndrome
• p.Glu217Ter Single submitter Nijmegen breakage syndrome
• p.Glu23fs Single submitter Nijmegen breakage syndrome
• p.Glu248Ter Single submitter Nijmegen breakage syndrome
• p.Glu350Ter Single submitter hereditary neoplastic syndrome
• p.Glu370fs Single submitter Nijmegen breakage syndrome
• p.Glu561Ter Single submitter Nijmegen breakage syndrome
• p.Glu584Ter Single submitter Nijmegen breakage syndrome
• p.Glu718fs Single submitter Nijmegen breakage syndrome
• p.Glu720fs Single submitter Nijmegen breakage syndrome
• p.Glu81Ter Single submitter Nijmegen breakage syndrome
• p.Gly137fs Single submitter hereditary neoplastic syndrome
• p.Gly27fs Single submitter Nijmegen breakage syndrome
• p.Gly327fs Single submitter Nijmegen breakage syndrome
• p.Gly695Ter Single submitter Nijmegen breakage syndrome
• p.Gly697Ter Single submitter Nijmegen breakage syndrome
• p.Gly9fs Single submitter Nijmegen breakage syndrome
• p.Ile166fs Single submitter Nijmegen breakage syndrome
• p.Ile282fs Single submitter hereditary neoplastic syndrome
• p.Ile33fs Single submitter Nijmegen breakage syndrome
• p.Ile455fs Single submitter Nijmegen breakage syndrome
• p.Ile576fs Single submitter Nijmegen breakage syndrome
• p.Leu352fs Single submitter hereditary neoplastic syndrome
• p.Leu48Ter Single submitter Nijmegen breakage syndrome
• p.Leu528Ter Single submitter Nijmegen breakage syndrome
• p.Leu566fs Single submitter Nijmegen breakage syndrome
• p.Leu719_Glu720insTer Single submitter Nijmegen breakage syndrome
• p.Leu91fs Single submitter Nijmegen breakage syndrome
• p.Lys173Ter Single submitter Nijmegen breakage syndrome
• p.Lys223delinsIleTyrIlePheIleIleTer Single submitter Nijmegen breakage syndrome
• p.Lys287fs Single submitter Nijmegen breakage syndrome
• p.Lys288fs Single submitter Nijmegen breakage syndrome
• p.Lys388Ter Single submitter hereditary neoplastic syndrome
• p.Lys465Ter Single submitter Nijmegen breakage syndrome
• p.Lys538fs Single submitter hereditary neoplastic syndrome
• p.Lys549Ter Single submitter Nijmegen breakage syndrome
• p.Lys642fs Single submitter Nijmegen breakage syndrome
• p.Lys653fs Single submitter hereditary neoplastic syndrome
• p.Lys665Ter Single submitter Nijmegen breakage syndrome
• p.Lys687Ter Single submitter Nijmegen breakage syndrome
• p.Lys690fs Single submitter Nijmegen breakage syndrome
• p.Lys69fs Single submitter Nijmegen breakage syndrome
• p.Lys73fs Single submitter Nijmegen breakage syndrome
• p.Met294fs Single submitter hereditary neoplastic syndrome
• p.Met389fs Single submitter Nijmegen breakage syndrome
• p.Met475fs Single submitter hereditary neoplastic syndrome
• p.Phe262Ter Single submitter Nijmegen breakage syndrome
• p.Pro112fs Single submitter Nijmegen breakage syndrome
• p.Pro174fs Single submitter Nijmegen breakage syndrome
• p.Pro304fs Single submitter Nijmegen breakage syndrome
• p.Pro357_Val358insTer Single submitter Nijmegen breakage syndrome
• p.Pro498fs Single submitter Nijmegen breakage syndrome
• p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer Single submitter Nijmegen breakage syndrome
• p.Ser118fs Single submitter Nijmegen breakage syndrome
• p.Ser278fs Single submitter Nijmegen breakage syndrome
• p.Ser292Ter Single submitter Nijmegen breakage syndrome
• p.Ser347Ter Single submitter hereditary neoplastic syndrome
• p.Ser397Ter Single submitter Nijmegen breakage syndrome
• p.Ser438fs Single submitter Nijmegen breakage syndrome
• p.Ser499Ter Single submitter Nijmegen breakage syndrome
• p.Ser518Ter Single submitter Nijmegen breakage syndrome
• p.Ser53fs Single submitter Nijmegen breakage syndrome
• p.Ser547_Asn548insTer Single submitter Nijmegen breakage syndrome
• p.Ser647fs Single submitter Nijmegen breakage syndrome
• p.Ser667fs Single submitter Nijmegen breakage syndrome
• p.Ser88fs Single submitter Nijmegen breakage syndrome
• p.Thr126fs Single submitter Nijmegen breakage syndrome
• p.Thr276fs Single submitter hereditary neoplastic syndrome
• p.Thr362_Tyr363insTer Single submitter hereditary neoplastic syndrome
• p.Thr402fs Single submitter Nijmegen breakage syndrome
• p.Thr420fs Single submitter hereditary neoplastic syndrome
• p.Thr463fs Single submitter hereditary neoplastic syndrome
• p.Thr516fs Single submitter hereditary neoplastic syndrome
• p.Thr60fs Single submitter Nijmegen breakage syndrome
• p.Thr668fs Single submitter Nijmegen breakage syndrome
• p.Thr76fs Single submitter Nijmegen breakage syndrome
• p.Thr90fs Single submitter Nijmegen breakage syndrome
• p.Thr98fs Single submitter Nijmegen breakage syndrome
• p.Trp375Ter Single submitter Nijmegen breakage syndrome
• p.Trp722Ter Single submitter Nijmegen breakage syndrome
• p.Tyr110fs Single submitter hereditary neoplastic syndrome
• p.Tyr110Ter Single submitter Nijmegen breakage syndrome
• p.Tyr458Ter Single submitter Nijmegen breakage syndrome
• p.Tyr693fs Single submitter Nijmegen breakage syndrome
• p.Tyr693Ter Single submitter Nijmegen breakage syndrome
• p.Tyr74Ter Single submitter Nijmegen breakage syndrome
• p.Val151fs Single submitter Nijmegen breakage syndrome
• p.Val386fs Single submitter hereditary neoplastic syndrome
• p.Val403fs Single submitter Nijmegen breakage syndrome
• p.Val417fs Single submitter hereditary neoplastic syndrome
• p.Val580fs Single submitter Nijmegen breakage syndrome
• p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer Single submitter Nijmegen breakage syndrome
• p.Val663fs Single submitter Nijmegen breakage syndrome
• c.2235-1G>A No assertion criteria gastric cancer
• p.Glu573Ter No assertion criteria gastric cancer
• p.Leu723fs No assertion criteria gastric cancer

Pathogenic/Likely pathogenic 100

• c.163_171+3del Multiple submitters hereditary neoplastic syndrome
• c.2071del Multiple submitters Nijmegen breakage syndrome
• c.2184+1G>T Multiple submitters aplastic anemia
• c.37+1G>A Multiple submitters Nijmegen breakage syndrome
• c.481-2A>G Multiple submitters Nijmegen breakage syndrome
• c.481-2A>T Multiple submitters hereditary neoplastic syndrome
• c.584+2T>C Multiple submitters Nijmegen breakage syndrome
• c.995-23_998inv Multiple submitters hereditary neoplastic syndrome
• c.995-2A>G Multiple submitters hereditary neoplastic syndrome
• p.Ala32fs Multiple submitters hereditary neoplastic syndrome
• p.Ala446fs Multiple submitters hereditary neoplastic syndrome
• p.Arg107fs Multiple submitters aplastic anemia
• p.Arg28fs Multiple submitters hereditary neoplastic syndrome
• p.Arg466fs Multiple submitters Nijmegen breakage syndrome
• p.Arg551fs Multiple submitters hereditary neoplastic syndrome
• p.Arg714Ter Multiple submitters Nijmegen breakage syndrome
• p.Arg89Ter Multiple submitters acute lymphoblastic leukemia
• p.Asn419fs Multiple submitters aplastic anemia
• p.Asn684fs Multiple submitters hereditary neoplastic syndrome
• p.Asp95fs Multiple submitters Nijmegen breakage syndrome
• p.Gln189Ter Multiple submitters Nijmegen breakage syndrome
• p.Gln291Ter Multiple submitters Nijmegen breakage syndrome
• p.Gln39fs Multiple submitters Nijmegen breakage syndrome
• p.Gln39Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln460fs Multiple submitters leukemia, acute lymphocytic, susceptibility to, 1
• p.Gln492Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln506fs Multiple submitters aplastic anemia
• p.Gln581Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln583Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln59Ter Multiple submitters hereditary breast ovarian cancer syndrome
• p.Gln725Ter Multiple submitters Nijmegen breakage syndrome
• p.Glu179fs Multiple submitters acute lymphoblastic leukemia
• p.Glu194Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu248fs Multiple submitters aplastic anemia
• p.Glu257Ter Multiple submitters Nijmegen breakage syndrome
• p.Glu383fs Multiple submitters hereditary neoplastic syndrome
• p.Glu383Ter Multiple submitters aplastic anemia
• p.Glu390Ter Multiple submitters Nijmegen breakage syndrome
• p.Glu467Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu505fs Multiple submitters acute lymphoblastic leukemia
• p.Glu552fs Multiple submitters aplastic anemia
• p.Glu573fs Multiple submitters aplastic anemia
• p.Glu575Ter Multiple submitters Nijmegen breakage syndrome
• p.Glu658fs Multiple submitters hereditary neoplastic syndrome
• p.Glu721Ter Multiple submitters Nijmegen breakage syndrome
• p.Gly21fs Multiple submitters hereditary neoplastic syndrome
• p.Gly246fs Multiple submitters Nijmegen breakage syndrome
• p.Gly301fs Multiple submitters hereditary neoplastic syndrome
• p.Gly680fs Multiple submitters Nijmegen breakage syndrome
• p.His149fs Multiple submitters hereditary neoplastic syndrome
• p.Ile159fs Multiple submitters aplastic anemia
• p.Ile597fs Multiple submitters Nijmegen breakage syndrome
• p.Ile63fs Multiple submitters hereditary neoplastic syndrome
• p.Leu120Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu18_Leu19insTer Multiple submitters Nijmegen breakage syndrome
• p.Leu19fs Multiple submitters hereditary neoplastic syndrome
• p.Leu312Ter Multiple submitters Nijmegen breakage syndrome
• p.Leu5fs Multiple submitters Nijmegen breakage syndrome
• p.Leu654fs Multiple submitters hereditary neoplastic syndrome
• p.Lys3Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys408Ter Multiple submitters aplastic anemia
• p.Lys443Ter Multiple submitters acute lymphoblastic leukemia
• p.Lys550fs Multiple submitters aplastic anemia
• p.Lys613Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys73Ter Multiple submitters aplastic anemia
• p.Lys92Ter Multiple submitters Nijmegen breakage syndrome
• p.Met83fs Multiple submitters Nijmegen breakage syndrome
• p.Phe102fs Multiple submitters hereditary neoplastic syndrome
• p.Phe138fs Multiple submitters hereditary neoplastic syndrome
• p.Pro190fs Multiple submitters hereditary neoplastic syndrome
• p.Pro198fs Multiple submitters acute lymphoblastic leukemia
• p.Pro266fs Multiple submitters aplastic anemia
• p.Pro283fs Multiple submitters Nijmegen breakage syndrome
• p.Pro325fs Multiple submitters aplastic anemia
• p.Pro495fs Multiple submitters aplastic anemia
• p.Ser292_Ile293insTer Multiple submitters Nijmegen breakage syndrome
• p.Ser292fs Multiple submitters hereditary neoplastic syndrome
• p.Ser369Ter Multiple submitters Nijmegen breakage syndrome
• p.Ser411_Asn412insTer Multiple submitters hereditary neoplastic syndrome
• p.Ser42fs Multiple submitters hereditary neoplastic syndrome
• p.Ser509_Glu510insTer Multiple submitters hereditary neoplastic syndrome
• p.Ser509fs Multiple submitters Nijmegen breakage syndrome
• p.Ser706Ter Multiple submitters NBN-related disorder
• p.Ser93Ter Multiple submitters aplastic anemia
• p.Thr226fs Multiple submitters hereditary neoplastic syndrome
• p.Thr273fs Multiple submitters hereditary neoplastic syndrome
• p.Thr319fs Multiple submitters Nijmegen breakage syndrome
• p.Thr409fs Multiple submitters aplastic anemia
• p.Thr60_Asp61insTer Multiple submitters hereditary neoplastic syndrome
• p.Trp2fs Multiple submitters hereditary neoplastic syndrome
• p.Trp2Ter Multiple submitters Nijmegen breakage syndrome
• p.Trp501Ter Multiple submitters acute lymphoblastic leukemia
• p.Tyr16_Arg17delinsTer Multiple submitters Nijmegen breakage syndrome
• p.Tyr16Ter Multiple submitters NBN-related disorder
• p.Tyr322_Cys323delinsTer Multiple submitters Nijmegen breakage syndrome
• p.Tyr322Ter Multiple submitters Nijmegen breakage syndrome
• p.Tyr429Ter Multiple submitters aplastic anemia
• p.Val26fs Multiple submitters hereditary neoplastic syndrome
• p.Val270fs Multiple submitters hereditary neoplastic syndrome
• p.Val358fs Multiple submitters Nijmegen breakage syndrome

Likely pathogenic 161

• c.1124+1G>C Multiple submitters hereditary neoplastic syndrome
• c.1124+2T>G Multiple submitters Nijmegen breakage syndrome
• c.1397+1_1397+9del Multiple submitters Nijmegen breakage syndrome
• c.1397+2T>A Multiple submitters aplastic anemia
• c.171+1G>A Multiple submitters Nijmegen breakage syndrome
• c.172-1G>T Multiple submitters Nijmegen breakage syndrome
• c.172-2A>G Multiple submitters hereditary neoplastic syndrome
• c.1845+1G>A Multiple submitters aplastic anemia
• c.2070+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2070+1G>T Multiple submitters Nijmegen breakage syndrome
• c.2070+2del Multiple submitters hereditary neoplastic syndrome
• c.2070+2T>G Multiple submitters hereditary neoplastic syndrome
• c.2071-1G>A Multiple submitters hereditary neoplastic syndrome
• c.2184+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2185-1G>A Multiple submitters Nijmegen breakage syndrome
• c.2226_2234+4del Multiple submitters hereditary neoplastic syndrome
• c.2234+1G>T Multiple submitters hereditary neoplastic syndrome
• c.2234+2T>G Multiple submitters hereditary neoplastic syndrome
• c.321-2A>G Multiple submitters hereditary neoplastic syndrome
• c.35_37+10del Multiple submitters Nijmegen breakage syndrome
• c.38-2A>G Multiple submitters hereditary neoplastic syndrome
• c.480+2T>G Multiple submitters hereditary neoplastic syndrome
• c.584+1G>A Multiple submitters hereditary neoplastic syndrome
• c.585-1_585delinsC Multiple submitters hereditary neoplastic syndrome
• c.585-1G>A Multiple submitters Nijmegen breakage syndrome
• c.585-2A>G Multiple submitters aplastic anemia
• c.702+1G>A Multiple submitters Nijmegen breakage syndrome
• c.702+1G>C Multiple submitters hereditary neoplastic syndrome
• c.702+1G>T Multiple submitters Nijmegen breakage syndrome
• c.702+2del Multiple submitters Nijmegen breakage syndrome
• c.702+2T>C Multiple submitters Nijmegen breakage syndrome
• c.896+1G>A Multiple submitters Nijmegen breakage syndrome
• c.897-1G>A Multiple submitters Nijmegen breakage syndrome
• c.897-2A>T Multiple submitters NBN-related disorder
• c.994+1G>A Multiple submitters aplastic anemia
• c.994+1G>T Multiple submitters hereditary neoplastic syndrome
• c.994+2T>C Multiple submitters Nijmegen breakage syndrome
• c.995-2A>C Multiple submitters hereditary neoplastic syndrome
• p.Gln344fs Multiple submitters aplastic anemia
• p.Pro433fs Multiple submitters aplastic anemia
• p.Trp143Ter Multiple submitters Nijmegen breakage syndrome
• p.Trp722_Leu723insTer Multiple submitters acute lymphoblastic leukemia
• p.Tyr197fs Multiple submitters Nijmegen breakage syndrome
• c.1124+1G>A Single submitter Nijmegen breakage syndrome
• c.1125-1G>C Single submitter Nijmegen breakage syndrome
• c.1125-2A>G Single submitter Nijmegen breakage syndrome
• c.113_114insALU Single submitter hereditary neoplastic syndrome
• c.1397+1_1397+3delinsACA Single submitter Nijmegen breakage syndrome
• c.1397+1dup Single submitter aplastic anemia
• c.1398-1G>A Single submitter aplastic anemia
• c.1398-2A>G Single submitter Nijmegen breakage syndrome
• c.171+1G>C Single submitter Nijmegen breakage syndrome
• c.171+1G>T Single submitter Nijmegen breakage syndrome
• c.171+2T>G Single submitter hereditary neoplastic syndrome
• c.172-1_176del Single submitter hereditary neoplastic syndrome
• c.172-1del Single submitter aplastic anemia
• c.172-1G>A Single submitter Nijmegen breakage syndrome
• c.172-2A>T Single submitter Nijmegen breakage syndrome
• c.1845+1G>C Single submitter hereditary neoplastic syndrome
• c.1845+2T>C Single submitter Nijmegen breakage syndrome
• c.1845+2T>G Single submitter Nijmegen breakage syndrome
• c.2070+2T>A Single submitter Nijmegen breakage syndrome
• c.2071-1G>T Single submitter Nijmegen breakage syndrome
• c.2071-2A>C Single submitter Nijmegen breakage syndrome
• c.2071-2A>G Single submitter Nijmegen breakage syndrome
• c.2071-2A>T Single submitter Nijmegen breakage syndrome
• c.2184+2T>A Single submitter Nijmegen breakage syndrome
• c.2185-1G>T Single submitter hereditary neoplastic syndrome
• c.2234+1G>A Single submitter Nijmegen breakage syndrome
• c.320+1G>A Single submitter hereditary neoplastic syndrome
• c.321-1G>A Single submitter Nijmegen breakage syndrome
• c.321-1G>T Single submitter hereditary neoplastic syndrome
• c.38-1G>A Single submitter Nijmegen breakage syndrome
• c.480+1G>A Single submitter aplastic anemia
• c.481-1G>A Single submitter hereditary neoplastic syndrome
• c.584+1G>T Single submitter Nijmegen breakage syndrome
• c.702+1del Single submitter Nijmegen breakage syndrome
• c.702+2T>A Single submitter Nijmegen breakage syndrome
• c.896+1G>T Single submitter Nijmegen breakage syndrome
• c.897-2A>G Single submitter Nijmegen breakage syndrome
• c.897-30_921delinsATATAATATATTATCATACTTAAACTATTTTATTCTAATAG Single submitter hereditary neoplastic syndrome
• c.994+1del Single submitter hereditary neoplastic syndrome
• c.995-1G>C Single submitter Nijmegen breakage syndrome
• c.995-1G>T Single submitter Nijmegen breakage syndrome
• p.Ala541fs Single submitter Nijmegen breakage syndrome
• p.Ala710fs Single submitter Nijmegen breakage syndrome
• p.Arg215fs Single submitter
• p.Arg468fs Single submitter aplastic anemia
• p.Arg590fs Single submitter Nijmegen breakage syndrome
• p.Arg714fs Single submitter Nijmegen breakage syndrome
• p.Asn261fs Single submitter aplastic anemia
• p.Asn321fs Single submitter Nijmegen breakage syndrome
• p.Asn37fs Single submitter Nijmegen breakage syndrome
• p.Asn56_Leu57insTer Single submitter
• p.Asn666fs Single submitter Nijmegen breakage syndrome
• p.Asn716fs Single submitter Nijmegen breakage syndrome
• p.Asp525Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp527fs Single submitter Nijmegen breakage syndrome
• p.Asp641fs Single submitter Nijmegen breakage syndrome
• p.Asp707fs Single submitter Nijmegen breakage syndrome
• p.Cys31fs Single submitter hereditary neoplastic syndrome
• p.Gln279Ter Single submitter Nijmegen breakage syndrome
• p.Gln725fs Single submitter Nijmegen breakage syndrome
• p.Gln730fs Single submitter Nijmegen breakage syndrome
• p.Glu109Ter Single submitter
• p.Glu14Ter Single submitter aplastic anemia
• p.Glu559fs Single submitter aplastic anemia
• p.Glu564fs Single submitter Nijmegen breakage syndrome
• p.Glu721fs Single submitter Nijmegen breakage syndrome
• p.Glu81fs Single submitter aplastic anemia
• p.Gly103Ter Single submitter Nijmegen breakage syndrome
• p.Gly704fs Single submitter
• p.Gly75fs Single submitter
• p.His711fs Single submitter Nijmegen breakage syndrome
• p.Leu133Ter Single submitter Nijmegen breakage syndrome
• p.Leu19Ter Single submitter
• p.Leu212fs Single submitter Nijmegen breakage syndrome
• p.Leu436Ter Single submitter Nijmegen breakage syndrome
• p.Leu48fs Single submitter Nijmegen breakage syndrome
• p.Leu4fs Single submitter aplastic anemia
• p.Leu522fs Single submitter aplastic anemia
• p.Leu522Ter Single submitter aplastic anemia
• p.Leu656fs Single submitter Nijmegen breakage syndrome
• p.Leu719fs Single submitter Nijmegen breakage syndrome
• p.Lys105Ter Single submitter Nijmegen breakage syndrome
• p.Lys160Ter Single submitter
• p.Lys233Ter Single submitter
• p.Lys334Ter Single submitter aplastic anemia
• p.Lys351fs Single submitter Nijmegen breakage syndrome
• p.Lys351Ter Single submitter
• p.Lys3fs Single submitter hereditary neoplastic syndrome
• p.Lys404Ter Single submitter
• p.Lys683Ter Single submitter Nijmegen breakage syndrome
• p.Lys715fs Single submitter Nijmegen breakage syndrome
• p.Met152Thr Single submitter ovarian cancer ⚠
• p.Met296fs Single submitter Nijmegen breakage syndrome
• p.Phe177fs Single submitter Nijmegen breakage syndrome
• p.Pro203fs Single submitter Nijmegen breakage syndrome
• p.Pro283_Asp284insGlnGluTer Single submitter
• p.Pro609fs Single submitter aplastic anemia
• p.Ser369fs Single submitter aplastic anemia
• p.Ser418Ter Single submitter Nijmegen breakage syndrome
• p.Ser432Ter Single submitter aplastic anemia
• p.Ser454Ter Single submitter aplastic anemia
• p.Ser547Ter Single submitter Nijmegen breakage syndrome
• p.Ser72fs Single submitter aplastic anemia
• p.Thr253fs Single submitter Nijmegen breakage syndrome
• p.Thr268fs Single submitter Nijmegen breakage syndrome
• p.Thr497fs Single submitter aplastic anemia
• p.Thr717fs Single submitter Nijmegen breakage syndrome
• p.Tyr16fs Single submitter Nijmegen breakage syndrome
• p.Tyr24Ter Single submitter Nijmegen breakage syndrome
• p.Val122fs Single submitter aplastic anemia
• p.Val25fs Single submitter Nijmegen breakage syndrome
• p.Val358_Gln371delinsAspThrTrpTer Single submitter Nijmegen breakage syndrome
• c.1125-1G>A No assertion criteria Nijmegen breakage syndrome
• c.2071-1175_2184+2del No assertion criteria Nijmegen breakage syndrome
• p.Ala127fs No assertion criteria Nijmegen breakage syndrome
• p.Glu145fs No assertion criteria Nijmegen breakage syndrome
• p.Lys683fs No assertion criteria Nijmegen breakage syndrome
• p.Tyr197Ter No assertion criteria Nijmegen breakage syndrome

Conflicting classifications of pathogenicity 228

• c.1124+5A>T Single submitter hereditary neoplastic syndrome
• c.1124+6G>T Single submitter hereditary neoplastic syndrome
• c.1124+9T>G Single submitter Nijmegen breakage syndrome
• c.1125-11T>G Single submitter Nijmegen breakage syndrome
• c.1125-12C>G Single submitter hereditary neoplastic syndrome
• c.1125-3C>T Single submitter hereditary neoplastic syndrome
• c.1397+1_1397+9delinsACA Single submitter acute lymphoblastic leukemia
• c.1397+1G>A Single submitter aplastic anemia
• c.1397+3C>G Single submitter hereditary neoplastic syndrome
• c.1397+4T>C Single submitter hereditary neoplastic syndrome
• c.1398-10T>A Single submitter hereditary breast ovarian cancer syndrome
• c.1398-17T>G Single submitter Nijmegen breakage syndrome
• c.171+3A>G Single submitter hereditary neoplastic syndrome
• c.171+4T>C Single submitter hereditary neoplastic syndrome
• c.172-3C>T Single submitter hereditary neoplastic syndrome
• c.1845+10A>G Single submitter Nijmegen breakage syndrome
• c.1915-5T>G Single submitter Nijmegen breakage syndrome
• c.1915-8C>T Single submitter hereditary neoplastic syndrome
• c.2070+4G>A Single submitter hereditary neoplastic syndrome
• c.2071-1G>C Single submitter aplastic anemia
• c.2071-4A>T Single submitter hereditary neoplastic syndrome
• c.2071-6C>A Single submitter Nijmegen breakage syndrome
• c.2071-8T>C Single submitter Nijmegen breakage syndrome
• c.2184+2T>G Single submitter Nijmegen breakage syndrome
• c.2185-12T>G Single submitter hereditary neoplastic syndrome
• c.2185-5G>A Single submitter hereditary neoplastic syndrome
• c.2185-7T>G Single submitter Nijmegen breakage syndrome
• c.2234+9T>G Single submitter Nijmegen breakage syndrome
• c.2235-1G>C Single submitter Nijmegen breakage syndrome
• c.2235-8C>T Single submitter Nijmegen breakage syndrome
• c.321-17C>G Single submitter Nijmegen breakage syndrome
• c.37+10G>C Single submitter hereditary neoplastic syndrome
• c.37+2dup Single submitter hereditary neoplastic syndrome
• c.37+3A>G Single submitter hereditary neoplastic syndrome
• c.37+6G>A Single submitter hereditary breast ovarian cancer syndrome
• c.37+6G>C Single submitter hereditary neoplastic syndrome
• c.37+8C>T Single submitter Nijmegen breakage syndrome
• c.38-10T>A Single submitter Hereditary cancer
• c.38-11del Single submitter Nijmegen breakage syndrome
• c.38-11dup Single submitter hereditary neoplastic syndrome
• c.38-12A>G Single submitter hereditary neoplastic syndrome
• c.38-5C>T Single submitter hereditary neoplastic syndrome
• c.480+3A>G Single submitter hereditary neoplastic syndrome
• c.481-18A>G Single submitter hereditary neoplastic syndrome
• c.481-5T>C Single submitter Nijmegen breakage syndrome
• c.481-7A>G Single submitter Nijmegen breakage syndrome
• c.584+3A>G Single submitter hereditary neoplastic syndrome
• c.584+5A>G Single submitter hereditary neoplastic syndrome
• c.584+6T>C Single submitter Nijmegen breakage syndrome
• c.585-13A>G Single submitter Nijmegen breakage syndrome
• c.585-5T>A Single submitter hereditary neoplastic syndrome
• c.585-5T>C Single submitter Nijmegen breakage syndrome
• c.702+9_702+13del Single submitter Nijmegen breakage syndrome
• c.702+9G>A Single submitter Nijmegen breakage syndrome
• c.703-3dup Single submitter hereditary neoplastic syndrome
• c.703-3T>C Single submitter hereditary neoplastic syndrome
• c.896+10dup Single submitter Nijmegen breakage syndrome
• c.896+2T>C Single submitter aplastic anemia
• c.896+7A>G Single submitter Nijmegen breakage syndrome
• c.897-18dup Single submitter hereditary neoplastic syndrome
• c.897-5A>G Single submitter hereditary neoplastic syndrome
• c.994+5T>C Single submitter hereditary neoplastic syndrome
• c.995-4A>G Single submitter Nijmegen breakage syndrome
• c.-10A>T Single submitter NBN-related disorder
• c.-26G>A Single submitter hereditary neoplastic syndrome
• c.-2C>A Single submitter hereditary neoplastic syndrome
• c.*401C>G Single submitter Nijmegen breakage syndrome
• c.*987T>G Single submitter Nijmegen breakage syndrome
• p.Ala400Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala541Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala557Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala710Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ala7Val Single submitter hereditary neoplastic syndrome ⚠
• p.Arg107Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg169Cys Single submitter Nijmegen breakage syndrome ⚠
• p.Arg215Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg425Lys Single submitter Nijmegen breakage syndrome ⚠
• p.Arg43Ter Single submitter Nijmegen breakage syndrome
• p.Arg551Lys Single submitter aplastic anemia ⚠
• p.Arg660Thr Single submitter NBN-related disorder ⚠
• p.Arg714= Single submitter Nijmegen breakage syndrome
• p.Arg714Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg745= Single submitter Nijmegen breakage syndrome
• p.Arg745_Tyr746insTer Single submitter aplastic anemia
• p.Arg754= Single submitter Nijmegen breakage syndrome
• p.Arg89Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg89Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Asn142Ser Single submitter Hereditary cancer ⚠
• p.Asn231Ser Single submitter Nijmegen breakage syndrome ⚠
• p.Asn37Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn413Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn419Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn419His Single submitter hereditary neoplastic syndrome ⚠
• p.Asn517Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Asn520Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn79Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn85Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asp444= Single submitter hereditary neoplastic syndrome
• p.Asp469Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp469Tyr Single submitter Hereditary cancer ⚠
• p.Asp577Glu Single submitter Nijmegen breakage syndrome ⚠
• p.Asp577Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Asp601Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp677Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp95Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Cys285Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Cys407Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Cys478Ser Single submitter acute lymphoblastic leukemia ⚠
• p.Gln130= Single submitter Nijmegen breakage syndrome
• p.Gln189= Single submitter Nijmegen breakage syndrome
• p.Gln216Lys Single submitter Nijmegen breakage syndrome ⚠
• p.Gln326Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln448Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Gln473Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gln732Ter Single submitter hereditary neoplastic syndrome
• p.Glu257Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu383Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Glu390= Single submitter hereditary neoplastic syndrome
• p.Glu470= Single submitter hereditary neoplastic syndrome
• p.Glu585Gly Single submitter Nijmegen breakage syndrome ⚠
• p.Glu606Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gly12= Single submitter hereditary neoplastic syndrome
• p.Gly12Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly267Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly332Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly345= Single submitter hereditary neoplastic syndrome
• p.Gly96Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ile108Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile132Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile132Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile171Val Single submitter diffuse midline glioma, H3 K27-altered ⚠
• p.Ile35fs Single submitter hereditary neoplastic syndrome
• p.Ile35Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile35Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile384Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile439Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile439Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile483Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ile531Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile558Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile576Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile614Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile97Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu264= Single submitter hereditary neoplastic syndrome
• p.Leu421Ser Single submitter Nijmegen breakage syndrome ⚠
• p.Leu489Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu574Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Lys105= Single submitter hereditary neoplastic syndrome
• p.Lys156Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys160= Single submitter hereditary neoplastic syndrome
• p.Lys320Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys385Glu Single submitter Nijmegen breakage syndrome ⚠
• p.Lys423Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys435Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys465= Single submitter hereditary neoplastic syndrome
• p.Lys504Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys571Glu Single submitter Nijmegen breakage syndrome ⚠
• p.Lys665Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys69= Single submitter hereditary neoplastic syndrome
• p.Lys698Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
• p.Met152Ile Single submitter Nijmegen breakage syndrome ⚠
• p.Met1Thr Single submitter hereditary neoplastic syndrome
• p.Met317Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met416Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met553Val Single submitter hereditary neoplastic syndrome ⚠
• p.Phe222= Single submitter hereditary neoplastic syndrome
• p.Phe262Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Phe263Ser Single submitter Hereditary cancer ⚠
• p.Phe393Leu Single submitter Nijmegen breakage syndrome ⚠
• p.Phe567Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Phe99= Single submitter hereditary neoplastic syndrome
• p.Pro199Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro199Ser Single submitter Nijmegen breakage syndrome ⚠
• p.Pro401Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro427Arg Single submitter Nijmegen breakage syndrome ⚠
• p.Pro427Thr Single submitter Nijmegen breakage syndrome ⚠
• p.Pro461= Single submitter Nijmegen breakage syndrome
• p.Pro461Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro495Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro498Thr Single submitter Nijmegen breakage syndrome ⚠
• p.Pro572Leu Single submitter aplastic anemia ⚠
• p.Pro593Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Pro672Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro6Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro700fs Single submitter Nijmegen breakage syndrome
• p.Ser195Asn Single submitter Nijmegen breakage syndrome ⚠
• p.Ser207= Single submitter hereditary neoplastic syndrome
• p.Ser278Ala Single submitter Hereditary cancer ⚠
• p.Ser341Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ser387Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Ser397= Single submitter hereditary neoplastic syndrome
• p.Ser40= Single submitter hereditary neoplastic syndrome
• p.Ser411Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Ser415Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser438Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser615= Single submitter Nijmegen breakage syndrome
• p.Ser615Pro Single submitter aplastic anemia ⚠
• p.Ser667Pro Single submitter Nijmegen breakage syndrome ⚠
• p.Ser669= Single submitter hereditary neoplastic syndrome
• p.Ser93Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Thr139Ala Single submitter hereditary breast ovarian cancer syndrome ⚠
• p.Thr158= Single submitter Nijmegen breakage syndrome
• p.Thr253Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr273Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr280Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Thr374= Single submitter hereditary neoplastic syndrome
• p.Thr402Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr452Pro Single submitter Hereditary cancer ⚠
• p.Thr485Met Single submitter hereditary neoplastic syndrome ⚠
• p.Thr599Arg Single submitter ovarian cancer ⚠
• p.Thr60Lys Single submitter aplastic anemia ⚠
• p.Tyr363= Single submitter hereditary neoplastic syndrome
• p.Tyr429Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr746Ter Single submitter hereditary neoplastic syndrome
• p.Tyr749Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Val114Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Val210Phe Single submitter Hereditary cancer ⚠
• p.Val22Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Val25Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val346Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Val346Met Single submitter hereditary neoplastic syndrome ⚠
• p.Val358Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Val364Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val532Met Single submitter hereditary neoplastic syndrome ⚠
• p.Val580Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val589Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val65Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val663= Single submitter hereditary neoplastic syndrome

Benign 77

• c.1124+18C>T Multiple submitters hereditary breast ovarian cancer syndrome
• c.1124+19C>T Multiple submitters hereditary breast ovarian cancer syndrome
• c.1124+91C>A Multiple submitters Nijmegen breakage syndrome
• c.1125-79C>A Multiple submitters
• c.1125-86G>A Multiple submitters
• c.1397+46del Multiple submitters hereditary neoplastic syndrome
• c.171+133A>G Multiple submitters
• c.172-132G>A Multiple submitters
• c.172-66A>C Multiple submitters
• c.1915-7A>G Multiple submitters hereditary neoplastic syndrome
• c.2070+33T>C Multiple submitters hereditary breast ovarian cancer syndrome
• c.2071-30A>T Multiple submitters hereditary neoplastic syndrome
• c.2071-61A>T Multiple submitters hereditary breast ovarian cancer syndrome
• c.2184+123G>A Multiple submitters Nijmegen breakage syndrome
• c.2234+88C>G Multiple submitters hereditary breast ovarian cancer syndrome
• c.2235-172C>T Multiple submitters
• c.321-29G>A Multiple submitters
• c.321-89T>A Multiple submitters
• c.37+237C>T Multiple submitters
• c.37+30A>G Multiple submitters
• c.585-81G>A Multiple submitters
• c.702+149T>C Multiple submitters
• c.702+150G>T Multiple submitters
• c.703-18G>A Multiple submitters hereditary neoplastic syndrome
• c.896+24dup Multiple submitters hereditary breast ovarian cancer syndrome
• c.897-64A>G Multiple submitters hereditary breast ovarian cancer syndrome
• c.994+233G>A Multiple submitters Nijmegen breakage syndrome
• c.-37G>A Multiple submitters Nijmegen breakage syndrome
• c.*1013G>A Multiple submitters Nijmegen breakage syndrome
• c.*1209A>C Multiple submitters Nijmegen breakage syndrome
• c.*1754T>C Multiple submitters Nijmegen breakage syndrome
• c.*1977T>C Multiple submitters Nijmegen breakage syndrome
• c.*273G>A Multiple submitters Nijmegen breakage syndrome
• c.*541G>C Multiple submitters Nijmegen breakage syndrome
• p.Asp399= Multiple submitters hereditary neoplastic syndrome
• p.Glu185Gln Multiple submitters hereditary neoplastic syndrome
• p.Leu34= Multiple submitters hereditary neoplastic syndrome
• p.Pro694= Multiple submitters hereditary neoplastic syndrome
• c.1124+310G>A Single submitter
• c.1125-258T>C Single submitter
• c.1125-7del Single submitter Nijmegen breakage syndrome
• c.1125-7dup Single submitter Nijmegen breakage syndrome
• c.1397+157C>G Single submitter
• c.1397+304C>T Single submitter
• c.1397+33dup Single submitter
• c.1397+42_1397+43insA Single submitter
• c.172-303_172-302del Single submitter
• c.2071-13del Single submitter Nijmegen breakage syndrome
• c.2184+200_2184+201dup Single submitter
• c.2184+200dup Single submitter
• c.2184+214del Single submitter
• c.2184+228A>C Single submitter
• c.2184+311C>G Single submitter
• c.320+16del Single submitter Nijmegen breakage syndrome
• c.320+200C>A Single submitter
• c.320+208G>A Single submitter
• c.321-224T>C Single submitter
• c.38-20del Single submitter Nijmegen breakage syndrome
• c.38-283G>A Single submitter
• c.38-308A>G Single submitter
• c.480+292C>G Single submitter
• c.584+327G>A Single submitter
• c.585-10A>G Single submitter
• c.703-20dup Single submitter Nijmegen breakage syndrome
• c.703-20insA Single submitter hereditary neoplastic syndrome
• c.896+167G>A Single submitter
• c.896+30_896+31insA Single submitter
• c.897-171C>T Single submitter
• c.-12G>A Single submitter
• c.-16C>T Single submitter
• c.*1692A>G Single submitter Nijmegen breakage syndrome
• c.*1961T>C Single submitter Nijmegen breakage syndrome
• c.*2212G>A Single submitter Nijmegen breakage syndrome
• c.*419C>T Single submitter Nijmegen breakage syndrome
• c.*757A>G Single submitter Nijmegen breakage syndrome
• c.*790T>G Single submitter Nijmegen breakage syndrome
• c.*937T>C Single submitter Nijmegen breakage syndrome

Benign/Likely benign 42

• c.1124+11_1124+13del Multiple submitters Nijmegen breakage syndrome
• c.1124+20G>A Multiple submitters Nijmegen breakage syndrome
• c.1398-10dup Multiple submitters hereditary neoplastic syndrome
• c.1398-19C>T Multiple submitters hereditary breast ovarian cancer syndrome
• c.2070+13A>G Multiple submitters Nijmegen breakage syndrome
• c.2070+7A>G Multiple submitters Nijmegen breakage syndrome
• c.2235-18C>T Multiple submitters Nijmegen breakage syndrome
• c.37+11A>G Multiple submitters Nijmegen breakage syndrome
• c.37+5G>A Multiple submitters hereditary neoplastic syndrome
• c.38-19A>T Multiple submitters Nijmegen breakage syndrome
• c.38-20dup Multiple submitters Nijmegen breakage syndrome
• c.481-4G>A Multiple submitters hereditary neoplastic syndrome
• c.702+16G>C Multiple submitters Nijmegen breakage syndrome
• c.702+84G>C Multiple submitters hereditary breast ovarian cancer syndrome
• c.703-29C>T Multiple submitters hereditary breast ovarian cancer syndrome
• c.896+13T>G Multiple submitters Nijmegen breakage syndrome
• c.896+27A>C Multiple submitters hereditary breast ovarian cancer syndrome
• c.896+36G>A Multiple submitters hereditary neoplastic syndrome
• c.896+4T>C Multiple submitters hereditary neoplastic syndrome
• c.994+20A>G Multiple submitters Nijmegen breakage syndrome
• c.995-17A>G Multiple submitters acute lymphoblastic leukemia
• c.-2C>T Multiple submitters hereditary neoplastic syndrome
• c.*2129G>T Multiple submitters Nijmegen breakage syndrome
• p.Ala127= Multiple submitters Nijmegen breakage syndrome
• p.Ala313= Multiple submitters hereditary neoplastic syndrome
• p.Ala734= Multiple submitters Nijmegen breakage syndrome
• p.Ala740= Multiple submitters hereditary neoplastic syndrome
• p.Asn142= Multiple submitters hereditary neoplastic syndrome
• p.Asn716Asp Multiple submitters Nijmegen breakage syndrome
• p.Cys147= Multiple submitters hereditary neoplastic syndrome
• p.Gln732= Multiple submitters hereditary neoplastic syndrome
• p.Glu564Lys Multiple submitters hereditary neoplastic syndrome
• p.Leu352= Multiple submitters hereditary neoplastic syndrome
• p.Leu662= Multiple submitters hereditary neoplastic syndrome
• p.Lys408Glu Multiple submitters Nijmegen breakage syndrome
• p.Phe196= Multiple submitters hereditary neoplastic syndrome
• p.Pro266Leu Multiple submitters Nijmegen breakage syndrome ⚠
• p.Ser93= Multiple submitters hereditary neoplastic syndrome
• p.Thr268= Multiple submitters hereditary neoplastic syndrome
• p.Thr273= Multiple submitters hereditary neoplastic syndrome
• p.Thr497Ala Multiple submitters Nijmegen breakage syndrome
• p.Tyr749= Multiple submitters hereditary neoplastic syndrome

Likely benign 844

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

• c.1124+12T>C Multiple submitters Nijmegen breakage syndrome
• c.1125-4A>G Multiple submitters hereditary neoplastic syndrome
• c.1398-10T>C Multiple submitters Nijmegen breakage syndrome
• c.1398-4dup Multiple submitters Nijmegen breakage syndrome
• c.1398-9A>T Multiple submitters Nijmegen breakage syndrome
• c.171+12A>G Multiple submitters Nijmegen breakage syndrome
• c.171+14T>C Multiple submitters Nijmegen breakage syndrome
• c.171+9C>T Multiple submitters Nijmegen breakage syndrome
• c.1915-11C>T Multiple submitters Nijmegen breakage syndrome
• c.2070+15T>G Multiple submitters Nijmegen breakage syndrome
• c.2070+18A>G Multiple submitters Nijmegen breakage syndrome
• c.2184+8G>C Multiple submitters Nijmegen breakage syndrome
• c.2185-122T>C Multiple submitters
• c.2185-15T>C Multiple submitters Nijmegen breakage syndrome
• c.2234+12T>C Multiple submitters Nijmegen breakage syndrome
• c.2234+14C>T Multiple submitters Nijmegen breakage syndrome
• c.2234+16C>T Multiple submitters Nijmegen breakage syndrome
• c.2234+17C>T Multiple submitters Nijmegen breakage syndrome
• c.2235-19C>T Multiple submitters Nijmegen breakage syndrome
• c.2235-8_2235-5del Multiple submitters Nijmegen breakage syndrome
• c.320+8A>G Multiple submitters Nijmegen breakage syndrome
• c.37+12A>C Multiple submitters hereditary neoplastic syndrome
• c.37+4A>C Multiple submitters Nijmegen breakage syndrome
• c.37+7G>A Multiple submitters hereditary neoplastic syndrome
• c.38-11A>T Multiple submitters Nijmegen breakage syndrome
• c.38-20T>A Multiple submitters Nijmegen breakage syndrome
• c.38-7A>G Multiple submitters Nijmegen breakage syndrome
• c.38-8T>C Multiple submitters Nijmegen breakage syndrome
• c.481-18_481-17del Multiple submitters Nijmegen breakage syndrome
• c.584+7T>A Multiple submitters Nijmegen breakage syndrome
• c.584+9T>A Multiple submitters Nijmegen breakage syndrome
• c.584+9T>C Multiple submitters Nijmegen breakage syndrome
• c.585-15T>C Multiple submitters Nijmegen breakage syndrome
• c.702+7A>G Multiple submitters Nijmegen breakage syndrome
• c.702+8T>C Multiple submitters Nijmegen breakage syndrome
• c.703-14C>T Multiple submitters Nijmegen breakage syndrome
• c.703-17T>C Multiple submitters Nijmegen breakage syndrome
• c.703-4T>C Multiple submitters hereditary neoplastic syndrome
• c.896+13T>C Multiple submitters Nijmegen breakage syndrome
• c.897-42G>C Multiple submitters hereditary breast ovarian cancer syndrome
• c.995-12T>C Multiple submitters Nijmegen breakage syndrome
• c.995-5T>C Multiple submitters Nijmegen breakage syndrome
• c.995-9G>A Multiple submitters Nijmegen breakage syndrome
• c.-36G>A Multiple submitters hereditary neoplastic syndrome
• c.*1222A>C Multiple submitters Nijmegen breakage syndrome
• p.Ala11= Multiple submitters hereditary neoplastic syndrome
• p.Ala131= Multiple submitters hereditary neoplastic syndrome
• p.Ala164= Multiple submitters hereditary neoplastic syndrome
• p.Ala183= Multiple submitters hereditary neoplastic syndrome
• p.Ala232= Multiple submitters hereditary neoplastic syndrome
• p.Ala249= Multiple submitters hereditary neoplastic syndrome
• p.Ala365= Multiple submitters hereditary neoplastic syndrome
• p.Ala372= Multiple submitters Nijmegen breakage syndrome
• p.Ala422= Multiple submitters Nijmegen breakage syndrome
• p.Ala496= Multiple submitters Nijmegen breakage syndrome
• p.Ala541= Multiple submitters Nijmegen breakage syndrome
• p.Ala557= Multiple submitters Nijmegen breakage syndrome
• p.Ala696= Multiple submitters Nijmegen breakage syndrome
• p.Ala713= Multiple submitters hereditary neoplastic syndrome
• p.Arg169= Multiple submitters Nijmegen breakage syndrome
• p.Arg250= Multiple submitters hereditary neoplastic syndrome
• p.Arg380= Multiple submitters hereditary neoplastic syndrome
• p.Arg445= Multiple submitters hereditary neoplastic syndrome
• p.Arg456= Multiple submitters hereditary neoplastic syndrome
• p.Arg551= Multiple submitters Nijmegen breakage syndrome
• p.Arg590= Multiple submitters hereditary neoplastic syndrome
• p.Arg660= Multiple submitters hereditary neoplastic syndrome
• p.Arg724= Multiple submitters hereditary neoplastic syndrome
• p.Arg752= Multiple submitters Nijmegen breakage syndrome
• p.Arg89= Multiple submitters hereditary neoplastic syndrome
• p.Asn209= Multiple submitters hereditary neoplastic syndrome
• p.Asn231= Multiple submitters hereditary neoplastic syndrome
• p.Asn261= Multiple submitters Nijmegen breakage syndrome
• p.Asn413= Multiple submitters Nijmegen breakage syndrome
• p.Asn414= Multiple submitters hereditary neoplastic syndrome
• p.Asn419= Multiple submitters hereditary neoplastic syndrome
• p.Asn503= Multiple submitters hereditary neoplastic syndrome
• p.Asn511= Multiple submitters Nijmegen breakage syndrome
• p.Asn517= Multiple submitters hereditary neoplastic syndrome
• p.Asn521= Multiple submitters hereditary neoplastic syndrome
• p.Asn56= Multiple submitters hereditary neoplastic syndrome
• p.Asn588= Multiple submitters hereditary neoplastic syndrome
• p.Asn640= Multiple submitters hereditary neoplastic syndrome
• p.Asn666= Multiple submitters Nijmegen breakage syndrome
• p.Asn671= Multiple submitters hereditary neoplastic syndrome
• p.Asp211= Multiple submitters hereditary neoplastic syndrome
• p.Asp272= Multiple submitters Nijmegen breakage syndrome
• p.Asp569= Multiple submitters hereditary neoplastic syndrome
• p.Asp577= Multiple submitters hereditary neoplastic syndrome
• p.Asp61= Multiple submitters Nijmegen breakage syndrome
• p.Asp678= Multiple submitters hereditary neoplastic syndrome
• p.Cys323= Multiple submitters hereditary neoplastic syndrome
• p.Cys478= Multiple submitters hereditary neoplastic syndrome
• p.Gln134= Multiple submitters hereditary neoplastic syndrome
• p.Gln192= Multiple submitters hereditary neoplastic syndrome
• p.Gln216= Multiple submitters hereditary neoplastic syndrome
• p.Gln220= Multiple submitters hereditary neoplastic syndrome
• p.Gln291= Multiple submitters hereditary neoplastic syndrome
• p.Gln344= Multiple submitters Nijmegen breakage syndrome
• p.Gln371= Multiple submitters Nijmegen breakage syndrome
• p.Gln391= Multiple submitters hereditary neoplastic syndrome
• p.Gln398= Multiple submitters hereditary neoplastic syndrome
• p.Gln449= Multiple submitters hereditary neoplastic syndrome
• p.Gln450= Multiple submitters Nijmegen breakage syndrome
• p.Gln451= Multiple submitters hereditary neoplastic syndrome
• p.Gln473= Multiple submitters hereditary neoplastic syndrome
• p.Gln565= Multiple submitters hereditary neoplastic syndrome
• p.Gln59= Multiple submitters Nijmegen breakage syndrome
• p.Gln644= Multiple submitters hereditary neoplastic syndrome
• p.Gln730= Multiple submitters hereditary neoplastic syndrome
• p.Glu111= Multiple submitters hereditary neoplastic syndrome
• p.Glu14= Multiple submitters hereditary neoplastic syndrome
• p.Glu146= Multiple submitters hereditary breast ovarian cancer syndrome
• p.Glu175= Multiple submitters hereditary neoplastic syndrome
• p.Glu23= Multiple submitters hereditary neoplastic syndrome
• p.Glu248= Multiple submitters hereditary neoplastic syndrome
• p.Glu258= Multiple submitters hereditary neoplastic syndrome
• p.Glu259= Multiple submitters hereditary neoplastic syndrome
• p.Glu350= Multiple submitters hereditary neoplastic syndrome
• p.Glu368= Multiple submitters Nijmegen breakage syndrome
• p.Glu370= Multiple submitters hereditary neoplastic syndrome
• p.Glu491= Multiple submitters Nijmegen breakage syndrome
• p.Glu505= Multiple submitters hereditary neoplastic syndrome
• p.Glu512= Multiple submitters Nijmegen breakage syndrome
• p.Glu543= Multiple submitters hereditary neoplastic syndrome
• p.Glu573= Multiple submitters Nijmegen breakage syndrome
• p.Glu737= Multiple submitters Nijmegen breakage syndrome
• p.Glu81= Multiple submitters hereditary neoplastic syndrome
• p.Gly103= Multiple submitters hereditary neoplastic syndrome
• p.Gly13= Multiple submitters hereditary neoplastic syndrome
• p.Gly168= Multiple submitters Nijmegen breakage syndrome
• p.Gly206= Multiple submitters hereditary neoplastic syndrome
• p.Gly214= Multiple submitters Nijmegen breakage syndrome
• p.Gly246= Multiple submitters Nijmegen breakage syndrome
• p.Gly247= Multiple submitters hereditary neoplastic syndrome
• p.Gly695= Multiple submitters Nijmegen breakage syndrome
• p.Gly705= Multiple submitters hereditary neoplastic syndrome
• p.Gly75= Multiple submitters hereditary neoplastic syndrome
• p.His149= Multiple submitters Nijmegen breakage syndrome
• p.His45= Multiple submitters hereditary neoplastic syndrome
• p.His701= Multiple submitters hereditary neoplastic syndrome
• p.His711= Multiple submitters hereditary neoplastic syndrome
• p.His712= Multiple submitters hereditary neoplastic syndrome
• p.Ile205= Multiple submitters hereditary neoplastic syndrome
• p.Ile221= Multiple submitters hereditary neoplastic syndrome
• p.Ile310= Multiple submitters hereditary neoplastic syndrome
• p.Ile41= Multiple submitters hereditary neoplastic syndrome
• p.Ile63= Multiple submitters hereditary neoplastic syndrome
• p.Ile664= Multiple submitters hereditary neoplastic syndrome
• p.Leu120= Multiple submitters hereditary neoplastic syndrome
• p.Leu128= Multiple submitters hereditary neoplastic syndrome
• p.Leu133= Multiple submitters hereditary neoplastic syndrome
• p.Leu165= Multiple submitters Nijmegen breakage syndrome
• p.Leu181= Multiple submitters hereditary neoplastic syndrome
• p.Leu19= Multiple submitters hereditary neoplastic syndrome
• p.Leu238= Multiple submitters Nijmegen breakage syndrome
• p.Leu251= Multiple submitters hereditary neoplastic syndrome
• p.Leu302= Multiple submitters hereditary neoplastic syndrome
• p.Leu312= Multiple submitters hereditary neoplastic syndrome
• p.Leu333= Multiple submitters Nijmegen breakage syndrome
• p.Leu396= Multiple submitters hereditary neoplastic syndrome
• p.Leu4= Multiple submitters Nijmegen breakage syndrome
• p.Leu421= Multiple submitters hereditary neoplastic syndrome
• p.Leu48= Multiple submitters hereditary neoplastic syndrome
• p.Leu5= Multiple submitters hereditary neoplastic syndrome
• p.Leu500= Multiple submitters hereditary neoplastic syndrome
• p.Leu574= Multiple submitters hereditary neoplastic syndrome
• p.Leu650= Multiple submitters Nijmegen breakage syndrome
• p.Leu656= Multiple submitters hereditary neoplastic syndrome
• p.Leu66= Multiple submitters hereditary neoplastic syndrome
• p.Leu68= Multiple submitters hereditary neoplastic syndrome
• p.Leu682= Multiple submitters hereditary neoplastic syndrome
• p.Leu699= Multiple submitters hereditary neoplastic syndrome
• p.Leu708= Multiple submitters hereditary neoplastic syndrome
• p.Leu739= Multiple submitters hereditary neoplastic syndrome
• p.Leu91= Multiple submitters hereditary neoplastic syndrome
• p.Lys125= Multiple submitters hereditary neoplastic syndrome
• p.Lys219= Multiple submitters hereditary neoplastic syndrome
• p.Lys288= Multiple submitters hereditary neoplastic syndrome
• p.Lys320= Multiple submitters hereditary neoplastic syndrome
• p.Lys392= Multiple submitters Nijmegen breakage syndrome
• p.Lys423= Multiple submitters Nijmegen breakage syndrome
• p.Lys441= Multiple submitters Nijmegen breakage syndrome
• p.Lys529= Multiple submitters hereditary neoplastic syndrome
• p.Lys533= Multiple submitters hereditary neoplastic syndrome
• p.Lys549= Multiple submitters hereditary neoplastic syndrome
• p.Lys571= Multiple submitters hereditary neoplastic syndrome
• p.Lys582= Multiple submitters hereditary neoplastic syndrome
• p.Lys665= Multiple submitters hereditary neoplastic syndrome
• p.Lys687= Multiple submitters hereditary neoplastic syndrome
• p.Lys689= Multiple submitters hereditary neoplastic syndrome
• p.Lys82= Multiple submitters Nijmegen breakage syndrome
• p.Phe102= Multiple submitters hereditary neoplastic syndrome
• p.Phe138= Multiple submitters hereditary neoplastic syndrome
• p.Phe180= Multiple submitters Nijmegen breakage syndrome
• p.Phe52= Multiple submitters hereditary neoplastic syndrome
• p.Phe567= Multiple submitters hereditary neoplastic syndrome
• p.Phe744= Multiple submitters Nijmegen breakage syndrome
• p.Pro10= Multiple submitters Nijmegen breakage syndrome
• p.Pro15= Multiple submitters hereditary neoplastic syndrome
• p.Pro170= Multiple submitters hereditary neoplastic syndrome
• p.Pro174= Multiple submitters hereditary neoplastic syndrome
• p.Pro266= Multiple submitters hereditary neoplastic syndrome
• p.Pro340= Multiple submitters hereditary neoplastic syndrome
• p.Pro381= Multiple submitters hereditary neoplastic syndrome
• p.Pro427= Multiple submitters hereditary neoplastic syndrome
• p.Pro437= Multiple submitters hereditary neoplastic syndrome
• p.Pro593= Multiple submitters hereditary neoplastic syndrome
• p.Pro6= Multiple submitters hereditary neoplastic syndrome
• p.Pro64= Multiple submitters hereditary neoplastic syndrome
• p.Pro672= Multiple submitters Nijmegen breakage syndrome
• p.Pro748= Multiple submitters hereditary neoplastic syndrome
• p.Ser117= Multiple submitters hereditary neoplastic syndrome
• p.Ser154= Multiple submitters hereditary neoplastic syndrome
• p.Ser240= Multiple submitters hereditary neoplastic syndrome
• p.Ser330= Multiple submitters hereditary neoplastic syndrome
• p.Ser347= Multiple submitters Nijmegen breakage syndrome
• p.Ser355= Multiple submitters hereditary neoplastic syndrome
• p.Ser369= Multiple submitters Nijmegen breakage syndrome
• p.Ser387= Multiple submitters Nijmegen breakage syndrome
• p.Ser410= Multiple submitters hereditary neoplastic syndrome
• p.Ser415= Multiple submitters hereditary neoplastic syndrome
• p.Ser418= Multiple submitters hereditary neoplastic syndrome
• p.Ser432= Multiple submitters hereditary neoplastic syndrome
• p.Ser438= Multiple submitters hereditary neoplastic syndrome
• p.Ser454= Multiple submitters hereditary neoplastic syndrome
• p.Ser477= Multiple submitters hereditary neoplastic syndrome
• p.Ser488= Multiple submitters Nijmegen breakage syndrome
• p.Ser499= Multiple submitters hereditary neoplastic syndrome
• p.Ser518= Multiple submitters Nijmegen breakage syndrome
• p.Ser604= Multiple submitters Nijmegen breakage syndrome
• p.Ser611= Multiple submitters hereditary neoplastic syndrome
• p.Ser661= Multiple submitters hereditary neoplastic syndrome
• p.Ser667= Multiple submitters hereditary neoplastic syndrome
• p.Ser88= Multiple submitters Nijmegen breakage syndrome
• p.Thr126= Multiple submitters Nijmegen breakage syndrome
• p.Thr139= Multiple submitters hereditary neoplastic syndrome
• p.Thr161= Multiple submitters hereditary neoplastic syndrome
• p.Thr178= Multiple submitters Nijmegen breakage syndrome
• p.Thr226= Multiple submitters hereditary neoplastic syndrome
• p.Thr318= Multiple submitters hereditary neoplastic syndrome
• p.Thr336= Multiple submitters hereditary neoplastic syndrome
• p.Thr360= Multiple submitters hereditary neoplastic syndrome
• p.Thr361= Multiple submitters acute lymphoblastic leukemia
• p.Thr49= Multiple submitters hereditary neoplastic syndrome
• p.Thr493= Multiple submitters Nijmegen breakage syndrome
• p.Thr55= Multiple submitters hereditary neoplastic syndrome
• p.Thr570= Multiple submitters hereditary neoplastic syndrome
• p.Thr599= Multiple submitters Nijmegen breakage syndrome
• p.Thr668= Multiple submitters hereditary neoplastic syndrome
• p.Thr692= Multiple submitters Nijmegen breakage syndrome
• p.Thr717= Multiple submitters hereditary neoplastic syndrome
• p.Thr76= Multiple submitters hereditary neoplastic syndrome
• p.Thr90= Multiple submitters hereditary neoplastic syndrome
• p.Tyr16= Multiple submitters hereditary breast ovarian cancer syndrome
• p.Tyr176= Multiple submitters Nijmegen breakage syndrome
• p.Tyr197= Multiple submitters Nijmegen breakage syndrome
• p.Tyr24= Multiple submitters hereditary neoplastic syndrome
• p.Tyr322= Multiple submitters hereditary neoplastic syndrome
• p.Tyr458= Multiple submitters hereditary neoplastic syndrome
• p.Tyr679= Multiple submitters hereditary neoplastic syndrome
• p.Tyr693= Multiple submitters hereditary neoplastic syndrome
• p.Tyr74= Multiple submitters hereditary neoplastic syndrome
• p.Tyr746= Multiple submitters Nijmegen breakage syndrome
• p.Val140= Multiple submitters hereditary neoplastic syndrome
• p.Val151= Multiple submitters Nijmegen breakage syndrome
• p.Val153= Multiple submitters hereditary neoplastic syndrome
• p.Val210= Multiple submitters hereditary neoplastic syndrome
• p.Val25= Multiple submitters acute lymphoblastic leukemia
• p.Val270= Multiple submitters hereditary neoplastic syndrome
• p.Val364= Multiple submitters hereditary neoplastic syndrome
• p.Val578= Multiple submitters hereditary neoplastic syndrome
• p.Val580= Multiple submitters hereditary neoplastic syndrome
• p.Val65= Multiple submitters hereditary neoplastic syndrome
• p.Val729= Multiple submitters hereditary neoplastic syndrome
• c.1124+10C>T Single submitter Nijmegen breakage syndrome
• c.1124+13C>A Single submitter Nijmegen breakage syndrome
• c.1124+13C>T Single submitter Nijmegen breakage syndrome
• c.1124+14A>G Single submitter Nijmegen breakage syndrome
• c.1124+15T>C Single submitter Nijmegen breakage syndrome
• c.1124+16del Single submitter Nijmegen breakage syndrome
• c.1124+17_1124+18delinsTT Single submitter Nijmegen breakage syndrome
• c.1124+18C>G Single submitter Nijmegen breakage syndrome
• c.1124+20G>C Single submitter Nijmegen breakage syndrome
• c.1124+20G>T Single submitter Nijmegen breakage syndrome
• c.1124+276T>A Single submitter
• c.1124+37C>G Single submitter Nijmegen breakage syndrome
• c.1124+55T>C Single submitter hereditary breast ovarian cancer syndrome
• c.1124+7C>T Single submitter Nijmegen breakage syndrome
• c.1124+8T>G Single submitter Nijmegen breakage syndrome
• c.1124+9T>C Single submitter Nijmegen breakage syndrome
• c.1125-12C>A Single submitter Nijmegen breakage syndrome
• c.1125-13T>A Single submitter Nijmegen breakage syndrome
• c.1125-15T>C Single submitter Nijmegen breakage syndrome
• c.1125-16T>C Single submitter Nijmegen breakage syndrome
• c.1125-16T>G Single submitter Nijmegen breakage syndrome
• c.1125-17C>A Single submitter Nijmegen breakage syndrome
• c.1125-17C>G Single submitter Nijmegen breakage syndrome
• c.1125-20A>G Single submitter Nijmegen breakage syndrome
• c.1125-22_1125-15del Single submitter Nijmegen breakage syndrome