ClinVar Miner

Variants in gene ATM with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 270
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.15del (p.Asn6fs)
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1608-2A>G rs2135338498
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter) rs2135354813
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter) rs769338089
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
NM_000051.4(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2262del (p.Gln754fs) rs2080573967
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2456del (p.Cys819fs) rs2135422280
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.340del (p.Arg114fs)
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4000_4006del (p.His1334fs) rs2135735093
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.680C>G (p.Ser227Ter) rs762998620
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.75_78del rs1565344409
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer) rs2135265742
NM_000051.4(ATM):c.975del (p.His325fs) rs2079883068
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
Single allele

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