ClinVar Miner

List of variants in gene ATM reported as pathogenic for breast disorder

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 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.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 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.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 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.3214G>T (p.Glu1072Ter) rs1060501687 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.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter) rs766438805 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.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del
NC_000011.9:g.(108225602_108235808)_(108239827_?)del
NC_000011.9:g.108105163_108155884del
NC_000011.9:g.108108886_108205398del
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-30-1G>T rs869312754
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.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs) rs1064795624
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1450_1451del (p.Trp484fs)
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1503_1521del (p.Gln501fs)
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1653del (p.Pro552fs) rs2080167483
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1880del (p.Phe627fs)
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1920del (p.Glu641fs)
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1935del (p.Ser646fs)
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
NM_000051.4(ATM):c.2091del (p.Leu697fs)
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs) rs1565397179
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter) rs1555075781
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2466+1G>A rs914092098
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
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.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.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
NM_000051.4(ATM):c.299T>A (p.Leu100Ter) rs761936549
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter) rs2081575204
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3077+1G>T rs192810283
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.320dup (p.Cys107fs) rs2078893430
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3285-2A>G rs1591631876
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
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.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3356_3357del (p.Ala1119fs)
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3403-1_3577-680del
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs) rs2082305146
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3747-1G>T
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
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.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) rs2082559544
NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4236del (p.Asp1413fs) rs1565455297
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.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
NM_000051.4(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)
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.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter) rs1565469955
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
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.5335del (p.Arg1779fs)
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
NM_000051.4(ATM):c.5497-1G>A rs876660245
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
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.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
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.5672C>A (p.Ser1891Ter)
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.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.879del (p.Gly294fs)
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.929del (p.Ser310fs) rs1591510597
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
NM_000051.4:c.(2838_2839)_(5674_5675)del
NM_000051.4:c.919_920insAlu
Single allele

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