ClinVar Miner

List of variants in gene ATM reported as likely pathogenic for Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP
NC_000011.10:g.(?_108235664)_(108235840_?)del
NC_000011.10:g.(?_108243943)_(108249112_?)del
NC_000011.10:g.(?_108246954)_(108289811_?)dup
NC_000011.10:g.(?_108284217)_(108284483_?)dup
NC_000011.10:g.(?_108292619)_(108299885_?)del
NC_000011.10:g.(?_108294917)_(108295069_?)dup
NC_000011.10:g.108251895_108260357del
NC_000011.10:g.108283328_108289725del
NC_000011.9:g.(?_108206566)_(108206694_?)del
NM_000051.3(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1065+1G>C rs201089102
NM_000051.3(ATM):c.1066-1G>T rs876660038
NM_000051.3(ATM):c.1066-2A>C rs1555069514
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1066-3_1072del rs1591517089
NM_000051.3(ATM):c.1092_1235+363del rs1591517314
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1192del (p.Asp398fs) rs1057519330
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1236-1G>A rs1408719214
NM_000051.3(ATM):c.1236-2del rs1565381646
NM_000051.3(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.3(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1608-1G>A rs1565385010
NM_000051.3(ATM):c.1608-1G>C rs1565385010
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.3(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.1783_1802+91del rs1555072063
NM_000051.3(ATM):c.1803-2A>G rs1057517358
NM_000051.3(ATM):c.185+1G>A rs112805604
NM_000051.3(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.1899-1G>T rs1555073065
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2125-15_2128del rs1064792940
NM_000051.3(ATM):c.2125-1G>A rs1402299151
NM_000051.3(ATM):c.2125-2A>C rs1565394403
NM_000051.3(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.3(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.2250+1G>A rs1565395193
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2376+1G>A rs730881347
NM_000051.3(ATM):c.2376+1G>T rs730881347
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2466+2T>A rs878853495
NM_000051.3(ATM):c.2466+2T>G rs878853495
NM_000051.3(ATM):c.2467-1G>A rs1328985852
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2467-2A>T rs1555082050
NM_000051.3(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.3(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2838+1G>T rs1555083469
NM_000051.3(ATM):c.2838+6T>C rs781730571
NM_000051.3(ATM):c.2839-2A>G rs1060501703
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.3(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.3(ATM):c.3077+1G>A rs192810283
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.3(ATM):c.3146_3153+2del rs1591608653
NM_000051.3(ATM):c.3154-1G>A rs1555085973
NM_000051.3(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3284+1G>C rs864622129
NM_000051.3(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+2T>G rs1555055358
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.3(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.3(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3577-1G>C rs1057517226
NM_000051.3(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3747-2A>G rs1057517213
NM_000051.3(ATM):c.3747-3_3751del rs1555093256
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.3(ATM):c.3993+1G>T rs200196781
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4237-2A>G rs1591662492
NM_000051.3(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4436+1G>T rs1555097894
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4611+1G>A rs1565461840
NM_000051.3(ATM):c.4612-1G>A rs1555100351
NM_000051.3(ATM):c.4612-2A>C rs1555100347
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.3(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4777-1G>A rs1591684268
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4910-1G>C rs1060501706
NM_000051.3(ATM):c.4910-1G>T rs1060501706
NM_000051.3(ATM):c.4910-2A>G rs1555103156
NM_000051.3(ATM):c.495_496+16del rs1555059522
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.497-1G>C rs778624615
NM_000051.3(ATM):c.5005+1G>T rs1057517427
NM_000051.3(ATM):c.5006-1G>A rs1591701799
NM_000051.3(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5178-1G>A rs1555105579
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.3(ATM):c.5319+1G>T rs876660175
NM_000051.3(ATM):c.5319+2T>C rs1555105842
NM_000051.3(ATM):c.5320-4_5323del rs1057516540
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5496+1G>A rs879254180
NM_000051.3(ATM):c.5496+2T>G rs1591713093
NM_000051.3(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.662+1G>A rs1060501690
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.72+2del rs1555053972
NM_000051.3(ATM):c.73-1G>A rs1555054043
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.3(ATM):c.901+1_901+26del rs1380265721
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.185+1del
NM_000051.4(ATM):c.186-2A>G
NM_000051.4(ATM):c.1899-8_1904del
NM_000051.4(ATM):c.2124+1G>A
NM_000051.4(ATM):c.2124+1del
NM_000051.4(ATM):c.2140del (p.Thr714fs)
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2639-2A>G
NM_000051.4(ATM):c.3077+1G>T
NM_000051.4(ATM):c.3153+1G>T
NM_000051.4(ATM):c.3154-1_3154delinsTT
NM_000051.4(ATM):c.3402+1G>A
NM_000051.4(ATM):c.3402+1G>T
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs)
NM_000051.4(ATM):c.3746+1G>T
NM_000051.4(ATM):c.3935_3936GA[2] (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4110-1G>C
NM_000051.4(ATM):c.4236+2T>A
NM_000051.4(ATM):c.496+2T>G
NM_000051.4(ATM):c.5005+1G>A
NM_000051.4(ATM):c.5177+1G>C
NM_000051.4(ATM):c.5177+1del
NM_000051.4(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.902-2A>G
NM_001351834.2(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_001351834.2(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_001351834.2(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_001351834.2(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_001351834.2(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_001351834.2(ATM):c.2922-50_2940del rs1555084832
NM_001351834.2(ATM):c.4093_4094CT[1] (p.Leu1365_Cys1366insTer) rs1555096057
NM_001351834.2(ATM):c.4356_4357TA[1] (p.Ile1453fs) rs1555097650
NM_001351834.2(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_001351834.2(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263

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