ClinVar Miner

List of variants in gene ATM reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_000051.3(ATM):c.-30-1G>T rs869312754
NM_000051.3(ATM):c.1066-2A>T rs1555069514
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.3(ATM):c.1235+1delG rs886039640
NM_000051.3(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.3(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.3(ATM):c.1348G>T (p.Glu450Ter) rs1555070786
NM_000051.3(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer) rs1064795556
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.3(ATM):c.1697_1706del (p.Val566fs) rs1064794468
NM_000051.3(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer) rs1064796083
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.3(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.3(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.3(ATM):c.2080_2081del (p.Leu694fs) rs886039591
NM_000051.3(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2147T>A (p.Val716Asp) rs864622294
NM_000051.3(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2571_2572del (p.Leu857_Phe858insTer) rs1555082257
NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.2662G>T (p.Glu888Ter) rs879254083
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.3275_3278CAAT[1] (p.Asn1094fs) rs879254281
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.332-1G>A rs747855862
NM_000051.3(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.3(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.3(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.3(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.3926_3927CA[4] (p.Gln1310fs) rs1555093659
NM_000051.3(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3996del (p.Ile1332fs) rs1555095807
NM_000051.3(ATM):c.4082_4083AG[1] (p.Ser1362fs) rs886039488
NM_000051.3(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.3(ATM):c.4109+1G>T rs879254034
NM_000051.3(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.3(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs) rs1064795394
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4405del (p.Ile1469fs) rs886041938
NM_000051.3(ATM):c.4437-1G>A rs759520465
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
NM_000051.3(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.3(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.3(ATM):c.5496+1G>A rs879254180
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.5516dup (p.Thr1840fs) rs879254242
NM_000051.3(ATM):c.5521_5522del (p.Val1841fs) rs1555107293
NM_000051.3(ATM):c.5534del (p.Tyr1844_Leu1845insTer) rs1555107315
NM_000051.3(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.680del (p.Ser226_Ser227insTer) rs879254070
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.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511

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