ClinVar Miner

List of variants in gene ATM reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP
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.1065+1G>T rs201089102
NM_000051.3(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.3(ATM):c.1124_1125GA[1] (p.Glu376fs) rs1064795624
NM_000051.3(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.3(ATM):c.1208C>A (p.Ser403Ter) rs747563556
NM_000051.3(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) rs587779813
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.138_141del (p.His46fs) rs786203370
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.1463G>A (p.Trp488Ter) rs879254093
NM_000051.3(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.3(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1658del (p.Gly553fs) rs1064796556
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
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.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2167_2173del (p.Val723fs) rs1064793033
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
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.2483del (p.Lys828fs) rs1064794234
NM_000051.3(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.3(ATM):c.2564dup (p.Met855fs) rs730881299
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.3(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.3(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2897_2899delinsGCCAA (p.Val966fs) rs730881301
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
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.3214G>T (p.Glu1072Ter) rs1060501687
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.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.3(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer) rs1064796055
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3619G>T (p.Glu1207Ter) rs772724024
NM_000051.3(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.3(ATM):c.364_368del (p.Asn122fs) rs1555059095
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.3(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.3(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_000051.3(ATM):c.3747-1G>C rs730881364
NM_000051.3(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
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.3894dup (p.Ala1299fs) rs587781823
NM_000051.3(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.3(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.3(ATM):c.4198A>T (p.Lys1400Ter) rs587781950
NM_000051.3(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
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.4416del (p.Ile1473fs) rs886039697
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.3(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.3(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.3(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) rs762083530
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5201_5202insAT (p.Thr1735fs) rs730881305
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.3(ATM):c.538C>T (p.Gln180Ter) rs730881333
NM_000051.3(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5496+1G>T rs879254180
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.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.561_562delinsT (p.Ala188fs) rs1064793031
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.5653dup (p.Thr1885fs) rs587778077
NM_000051.3(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
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.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.67C>T (p.Arg23Ter) rs746235533
NM_000051.3(ATM):c.717_720del (p.Phe239fs) rs587782660
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.790del (p.Tyr264fs) rs587781978
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.901+1G>C rs748840480
NM_000051.3(ATM):c.902-1G>T rs1064793518

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