ClinVar Miner

List of variants in gene ATM reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 248
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.3(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.3(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.3(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.3(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.3(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) rs587779813
NM_000051.3(ATM):c.1236-2A>T rs80159221
NM_000051.3(ATM):c.1236-3_1236-2del rs587782572
NM_000051.3(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.3(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.3(ATM):c.1329del (p.Gln445fs) rs587782844
NM_000051.3(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1358dup (p.Tyr454fs) rs1555070805
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
NM_000051.3(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.3(ATM):c.1392_1393GT[1] (p.Cys465fs) rs876659866
NM_000051.3(ATM):c.1396C>T (p.Gln466Ter) rs876660485
NM_000051.3(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_000051.3(ATM):c.1424C>G (p.Ser475Ter) rs786203550
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1439_1448del (p.Leu480fs) rs876658651
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1464del (p.Trp488fs) rs1555070994
NM_000051.3(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.3(ATM):c.1512del (p.Phe505fs) rs1555071103
NM_000051.3(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.3(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.3(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.3(ATM):c.1738_1739CT[1] (p.Leu581fs) rs1131691151
NM_000051.3(ATM):c.1768G>T (p.Glu590Ter) rs876659283
NM_000051.3(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.3(ATM):c.1898+1G>T rs758325274
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.1978dup (p.Met660fs) rs1555073243
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2050C>T (p.Gln684Ter) rs1060501691
NM_000051.3(ATM):c.205C>T (p.Gln69Ter) rs876660631
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.3(ATM):c.2129del (p.Thr710fs) rs786203807
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2376+1G>T rs730881347
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.3(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.3(ATM):c.2466+1del rs786202783
NM_000051.3(ATM):c.2494dup (p.Arg832fs) rs1131691165
NM_000051.3(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.3(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.3(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.3(ATM):c.2548G>T (p.Glu850Ter) rs587782280
NM_000051.3(ATM):c.2572_2575del (p.Phe858fs) rs1131691148
NM_000051.3(ATM):c.2624del (p.Ser875fs) rs1555082344
NM_000051.3(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.3(ATM):c.2718_2719GT[1] (p.Leu906_Cys907insTer) rs786202695
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.3(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.3(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.3(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.3(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2882del (p.Leu961fs) rs587781805
NM_000051.3(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.3(ATM):c.2902G>T (p.Glu968Ter) rs1555084723
NM_000051.3(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2965del (p.Thr989fs) rs786203539
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3025G>T (p.Glu1009Ter) rs1064794039
NM_000051.3(ATM):c.3038dup (p.Asp1013fs) rs1131691163
NM_000051.3(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.3(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.3(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.3(ATM):c.3335dup (p.Leu1113fs) rs876660031
NM_000051.3(ATM):c.3340A>T (p.Lys1114Ter) rs1049900772
NM_000051.3(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.3(ATM):c.3369del (p.Tyr1124fs) rs587781752
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.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.3(ATM):c.3419del (p.Asn1140fs) rs1555091141
NM_000051.3(ATM):c.3430_3431del (p.Leu1144fs) rs1555091158
NM_000051.3(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.3(ATM):c.3451A>T (p.Lys1151Ter) rs1555091196
NM_000051.3(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.3(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.3(ATM):c.3537_3538TG[1] (p.Val1180fs) rs1555091367
NM_000051.3(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3617_3621delinsG (p.Leu1206fs) rs876660783
NM_000051.3(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.3(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.3(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.3(ATM):c.3704del (p.Pro1235fs) rs876658455
NM_000051.3(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_000051.3(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.3(ATM):c.3780dup (p.Ile1261fs) rs786202694
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.3(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.3(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.3(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.3(ATM):c.3895del (p.Ala1299fs) rs786203501
NM_000051.3(ATM):c.392C>A (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.3(ATM):c.4082_4083AG[1] (p.Ser1362fs) rs886039488
NM_000051.3(ATM):c.4093_4094CT[3] (p.Cys1366fs) rs1555096057
NM_000051.3(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.3(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4110-1G>A rs1060501692
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.3(ATM):c.4198A>T (p.Lys1400Ter) rs587781950
NM_000051.3(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.3(ATM):c.4335dup (p.Val1446fs) rs1555097571
NM_000051.3(ATM):c.4359_4363del (p.Ile1453fs) rs587782863
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.3(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.3(ATM):c.442dup (p.Asp148fs) rs1555059380
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.454del (p.Ser151_Val152insTer) rs1555059421
NM_000051.3(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.3(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.3(ATM):c.4638_4641GATA[1] (p.Asp1548fs) rs876659535
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.3(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4802_4803GT[1] (p.Val1602fs) rs864622290
NM_000051.3(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.3(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) rs762083530
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.4885dup (p.Val1629fs) rs1555101915
NM_000051.3(ATM):c.4909+1G>A rs756987454
NM_000051.3(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.3(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.3(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+1G>A rs1131691159
NM_000051.3(ATM):c.5185del (p.Val1729fs) rs1555105610
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.3(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.3(ATM):c.5402dup (p.Asn1801fs) rs1555106438
NM_000051.3(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5594_5595del (p.His1865fs) rs1555107450
NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter) rs376603775
NM_000051.3(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.564del (p.Arg189fs) rs876658754
NM_000051.3(ATM):c.5679_5680AG[1] (p.Glu1894fs) rs1060501580
NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.3(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.3(ATM):c.67C>T (p.Arg23Ter) rs746235533
NM_000051.3(ATM):c.708del (p.Thr237fs) rs1555067034
NM_000051.3(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.3(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.3(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.3(ATM):c.855del (p.Gln286fs) rs1555067251
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.3(ATM):c.901+1G>A rs748840480
NM_000051.3(ATM):c.901+1G>T rs748840480
NM_000051.3(ATM):c.902-1G>T rs1064793518
NM_000051.3(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_000051.3(ATM):c.975_976TA[1] (p.Ile326fs) rs876658832

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