List of variants in gene ATM reported as uncertain significance by Athena Diagnostics Inc

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: 76

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)	rs141921797	0.00029
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)	rs148993589	0.00026
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	rs138398778	0.00017
NM_000051.4(ATM):c.2887A>G (p.Met963Val)	rs374353016	0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)	rs146145357	0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)	rs147600485	0.00014
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)	rs145667735	0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)	rs730881342	0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	rs3092907	0.00011
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	rs145053092	0.00009
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	rs147515380	0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)	rs786203011	0.00007
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)	rs148705269	0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)	rs375190373	0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	rs147915571	0.00006
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)	rs587782397	0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)	rs55723361	0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)	rs550552791	0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val)	rs145355104	0.00005
NM_000051.4(ATM):c.202A>G (p.Ile68Val)	rs35389822	0.00004
NM_000051.4(ATM):c.3154-5C>T	rs55719759	0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)	rs201594549	0.00004
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)	rs587782255	0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)	rs373789346	0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val)	rs547045780	0.00003
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)	rs746133264	0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)	rs587779838	0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)	rs730881393	0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)	rs375131360	0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met)	rs372694758	0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)	rs538452060	0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)	rs148064985	0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His)	rs368161489	0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)	rs200601781	0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=)	rs1385656085	0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His)	rs554805703	0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	rs202173660	0.00001
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)	rs766595156	0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)	rs876659822	0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)	rs769338089	0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)	rs587779819	0.00001
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)	rs587779820	0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)	rs758962678	0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)	rs730881349	0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)	rs189445371	0.00001
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys)	rs200765255	0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)	rs1064794484	0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)	rs587779840	0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)	rs587782506	0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)	rs587781622	0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)	rs758908522	0.00001
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)	rs768720856	0.00001
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg)	rs1064794119
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys)	rs2079988487
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)	rs1064792998
NM_000051.4(ATM):c.1235+4_1235+5del	rs770033355
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)	rs546621356
NM_000051.4(ATM):c.2250+7G>A	rs752009031
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)	rs201793499
NM_000051.4(ATM):c.2987A>G (p.His996Arg)	rs876660034
NM_000051.4(ATM):c.3063A>G (p.Val1021=)	rs1591604752
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)	rs1591632541
NM_000051.4(ATM):c.354A>G (p.Gln118=)	rs1188306380
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)	rs534864280
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr)	rs730881390
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)	rs1565357020
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)	rs1060501653
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	rs763457172
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)	rs766053182
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)	rs879254274
NM_000051.4(ATM):c.5675-7_5675-4del	rs1189695629
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)	rs1565344141
NM_000051.4(ATM):c.643A>G (p.Lys215Glu)	rs2079708238
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)	rs769166447
NM_000051.4(ATM):c.75A>G (p.Lys25=)	rs1591446716
Single allele

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