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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)	rs1131691164	0.00004
NM_000051.4(ATM):c.3994-2A>G	rs587782276	0.00002
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)	rs1060501610	0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)	rs876660628	0.00001
NM_000051.4(ATM):c.332-1G>A	rs747855862	0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	rs730881389	0.00001
NM_000051.4(ATM):c.72+1G>A	rs786204088	0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val)	rs587781511	0.00001
NM_000051.4(ATM):c.1066-2A>T	rs1555069514
NM_000051.4(ATM):c.119_122del (p.Ile40fs)	rs876659116
NM_000051.4(ATM):c.1235+1del	rs886039640
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)	rs1555070678
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)	rs1555070694
NM_000051.4(ATM):c.1348G>T (p.Glu450Ter)	rs1555070786
NM_000051.4(ATM):c.1367del (p.Leu456fs)	rs1555070832
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro)	rs587782729
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)	rs1555070947
NM_000051.4(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer)	rs1064795556
NM_000051.4(ATM):c.1524del (p.Gly509fs)	rs786204737
NM_000051.4(ATM):c.1607+1G>A	rs772926890
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)	rs886039644
NM_000051.4(ATM):c.1697_1706del (p.Val566fs)	rs1064794468
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)	rs1064796083
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)	rs879254190
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)	rs775248597
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)	rs528165789
NM_000051.4(ATM):c.2080_2081del (p.Leu694fs)	rs886039591
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)	rs876659149
NM_000051.4(ATM):c.2124+1G>T	rs1555073553
NM_000051.4(ATM):c.2147T>A (p.Val716Asp)	rs864622294
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)	rs1555074976
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)	rs1064795831
NM_000051.4(ATM):c.2376+1G>T	rs730881347
NM_000051.4(ATM):c.2467-1G>A	rs1328985852
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)	rs1555082257
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)	rs886039633
NM_000051.4(ATM):c.2639-22_2639-20del	rs1064795554
NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)	rs879254083
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)	rs1064794437
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	rs786203054
NM_000051.4(ATM):c.2922-50_2940del	rs1555084832
NM_000051.4(ATM):c.3153+1G>A	rs2081646501
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)	rs879254281
NM_000051.4(ATM):c.3284+1G>A	rs864622129
NM_000051.4(ATM):c.3402+3A>C	rs786203688
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)	rs886039632
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)	rs876658899
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)	rs1555091359
NM_000051.4(ATM):c.3577-2A>G	rs887358871
NM_000051.4(ATM):c.3631del (p.Ala1211fs)	rs1064795885
NM_000051.4(ATM):c.3746+1G>T	rs2082309297
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)	rs886039637
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)	rs1555093303
NM_000051.4(ATM):c.3841del (p.Ser1281fs)	rs886039621
NM_000051.4(ATM):c.387del (p.Asp130fs)	rs745642834
NM_000051.4(ATM):c.3926_3929dup (p.Gln1310fs)	rs1555093659
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)	rs1363726955
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)	rs863224566
NM_000051.4(ATM):c.3996del (p.Ile1332fs)	rs1555095807
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs)	rs886039488
NM_000051.4(ATM):c.4109+1G>T	rs879254034
NM_000051.4(ATM):c.4109+5G>A	rs2082568277
NM_000051.4(ATM):c.4110-9C>G	rs730881367
NM_000051.4(ATM):c.4227del (p.Ser1411fs)	rs587782054
NM_000051.4(ATM):c.432dup (p.Leu145fs)	rs1555059330
NM_000051.4(ATM):c.4332_4337delinsTAAAA (p.Phe1445fs)	rs1064795394
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)	rs1591663285
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)	rs730881391
NM_000051.4(ATM):c.4405del (p.Ile1469fs)	rs886041938
NM_000051.4(ATM):c.4437-1G>A	rs759520465
NM_000051.4(ATM):c.4776+1G>T	rs771117943
NM_000051.4(ATM):c.4776+2_4776+13del	rs762838462
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)	rs886039592
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)	rs1060501627
NM_000051.4(ATM):c.496+5G>A	rs796051858
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)	rs1555103301
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)	rs1555104693
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)	rs886039627
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs)	rs1555105660
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)	rs879254041
NM_000051.4(ATM):c.5496+1G>A	rs879254180
NM_000051.4(ATM):c.5497-1G>A	rs876660245
NM_000051.4(ATM):c.5516dup (p.Thr1840fs)	rs879254242
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)	rs1555107293
NM_000051.4(ATM):c.5534del (p.Tyr1844_Leu1845insTer)	rs1555107315
NM_000051.4(ATM):c.5674+1G>T	rs1565482453
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)	rs1555109147
NM_000051.4(ATM):c.5762+1G>A	rs869312756
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	rs1555066551
NM_000051.4(ATM):c.663-2A>G	rs886041931
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)	rs879254070
NM_000051.4(ATM):c.73-3C>G	rs1555054039

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