Search unique variants - LOVD - Leiden Open Variation Database

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The variants below are all in the ATM database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the ATM full legend here.

482 entries
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Exon

DNA change

do not use

RNA change

Protein change

DB-ID

do not use

Protein_data

Frequency

RE-site


4	c.2T>C (Reported 4 times)	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-
4	c.3G>A (Reported 2 times)	-	r.(?)	p.(0)?	ATM_00414	-	-	-	-
4	c.27_27delT (Reported 2 times)	-	r.(?)	p.(Ile10Serfs*6)	ATM_00003	-	-	-	-
4	c.67C>T (Reported 2 times)	-	r.?	p.(Arg23*)	ATM_00486	-	-	-	-
4	c.72+2T>C	-	r.(?)	p.(?)	ATM_00004	-	-	-	-
5	c.103C>T (Reported 10 times)	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-
5	c.128T>C	-	r.(?)	p.(Leu43Pro)	ATM_00426	-	-	-	-
5	c.138_141delTTCA	-	r.(?)	.(His46Glnfs*9)	ATM_00006	-	-	-	-
5	c.146C>G (Reported 2 times)	-	r.(?)	p.(Ser49Cys)	ATM_00007	There are known unaffected homozygotes for this variant	-	-	-
5	c.170G>A (Reported 2 times)	-	r.(?)	p.(Trp57*)	ATM_00008	-	-	-	-
6	c.217_218delGA	-	r.(?)	p.(Glu73Metfs*26)	ATM_00010	-	-	-	-
6	c.299T>A	-	r.(?)	p.(Leu100*)	ATM_00011	-	-	-	-
6	c.331A>T	-	r.(?)	p.(Arg111*)	ATM_00401	-	-	-	-
6	c.331+5G>A (Reported 4 times)	-	r.186_331del146	p.(Arg63fs)	ATM_00434	exon 6 deleted in cDNA	-	-	-
7	c.332-1G>A	-	r.332_496del	p.(Arg111_Glu166delinsLys)	ATM_00012	exon 7 deleted in cDNA	-	-	-
7	c.362T>A (Reported 2 times)	-	r.(?)	p.(Leu121*)	ATM_00387	-	-	-	-
7	c.368_368delA	-	r.(?)	p.(Tyr123Leufs*6)	ATM_00013	-	-	-	-
7	c.370_374delATCAT	-	r.(?)	p.(Ile124Glyfs*8)	ATM_00014	-	-	-	-
7	c.378T>A (Reported 2 times)	-	r.(?)	p.(Asp126Glu)	ATM_00372	reported unaffected homozygotes for this variant	-	-	-
7	c.381_381delA (Reported 7 times)	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-
7	c.397_398insT	-	r.397_398insT	p.(Asn133Ilefs*8)	ATM_00441	-	-	-	-
7	c.432dupA (Reported 2 times)	-	r.(?)	p.(Leu145Thrfs*14)	ATM_00016	-	-	-	-
7	c.434T>G	-	r.(?)	p.(Leu145Arg)	ATM_00507	-	-	-	-
7	c.450_453delTTCT	-	r.(?)	p.(Ser151*)	ATM_00428	-	-	-	-
7	c.480_484delTCAGC	-	r.(?)	p.(Gln161Thrfs*22)	ATM_00017	-	-	-	-
7	c.484C>T (Reported 2 times)	-	r.332_496del165	p.(Gln162*)	ATM_00018	deletion exon 7 confirmed in cDNA	-	-	-
7	c.487C>T	-	r.(332_496del165)	p.(Gln163*)	ATM_00019	-	-	-	-
7	c.496+5G>A (Reported 2 times)	-	r.332_496del165	p.(Arg111_Glu166del55insLys)	ATM_00389	exon 7 deleted in cDNA	-	-	-
8	c.513C>T (Reported 2 times)	-	r.[513C>T, 497_518del]	p.Glu160fs	ATM_00366	-	-	-	-
8	c.513T>G (Reported 2 times)	-	r.(?)	p.(Tyr171*)	ATM_00022	Reference sequence has "C" rather than "T" at position 513	-	-	-
8	c.597T>A	-	r.(?)	p.(Cys199*)	ATM_00023	-	-	-	-
8	c.610G>T	-	r.(?)	p.(Gly204*)	ATM_00391	-	-	-	-
8	c.640_640delT (Reported 8 times)	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-
8	c.662G>T	-	r.(497_662del)	p.(Glu166fs)	ATM_00024	exon 8 deleted in cDNA	-	-	-
9	c.663-3_663-2delCA	-	r.(663_901del)	p.(Gln222fs)	ATM_00026	-	-	-	-
9	c.670A>G	-	r.(?)	p.(Lys224Glu)	ATM_00027	-	-	-	-
9	c.692A>G	-	r.(?)	p.(His231Arg)	ATM_00429	-	-	-	-
9	c.716_716delT (Reported 2 times)	-	r.(?)	p.(Phe239Serfs*16)	ATM_00334	-	-	-	-
9	c.717_720delCCTC (Reported 3 times)	-	r.(?)	p.(Phe239Leufs*15)	ATM_00403	-	-	-	-
9	c.738_739delCTinsA	-	r.(?)	p.(Asn246Lysfs*9)	ATM_00465	-	-	-	-
9	c.741_741delT	-	r.(?)	p.(Arg248Glufs*7)	ATM_00028	-	-	-	-
9	c.742C>T (Reported 2 times)	-	r.(?)	p.(Arg248*)	ATM_00346	-	-	-	-
9	c.748C>T (Reported 2 times)	-	r.(663_901del)	p.(Arg221*)	ATM_00029	-	-	-	-
9	c.756_757delTG (Reported 2 times)	-	r.(?)	p.(Cys252*)	ATM_00030	-	-	-	-
9	c.790_790delT (Reported 5 times)	-	r.(?)	p.(Tyr264Ilefs*12)	ATM_00031	-	-	-	-
9	c.794_795ins4	-	r.(?)	p.(Ile265fs)	ATM_00032	-	-	-	-
9	c.802C>T (Reported 4 times)	-	r.(663_901del)	p.(Gln268*)	ATM_00033	-	-	-	-
9	c.824_824delT (Reported 4 times)	-	r.(?)	p.(Leu275*)	ATM_00034	-	-	-	-
9	c.875C>T (Reported 2 times)	-	r.(?)	p.(Pro292Leu)	ATM_00035	-	reduced ATM protein	-	-
9	c.901G>A	-	r.(663_901del)	p.(Gly301Ser)	ATM_00393	exon 9 deleted in cDNA	-	-	-
9	c.901+1G>A	-	r.(?)	p.(?)	ATM_00356	aberrant splicing noted but not specified	-	-	-
9	c.901+2T>A	-	r.(663_901del)	p.(Gln268fs)	ATM_00036	exon 9 deleted in cDNA	-	-	-
9	c.901+3A>T	-	r.(663_901del)	p.(Gln268fs)	ATM_00037	exon 9 deleted in cDNA	-	-	-
10	c.902-19_1065+869del1052	-	r.(902_1065del)	p.(Ala302fs)	ATM_00442	exon 10 deleted in cDNA	-	-	-
10	c.902-1G>T	-	r.(902_1065del)	p.(Ala302fs)	ATM_00038	exon 10 deleted in cDNA	-	-	-
10	c.967A>G (Reported 5 times)	-	r.(?)	p.(Ile323Val)	ATM_00039	-	-	-	-
10	c.1027_1030delGAAA (Reported 5 times)	-	r.(?)	p.(Glu343Ilefs*2)	ATM_00041	-	-	-	-
10	c.1037_1040delTTGA	-	r.(?)	p.(Ile346Asnfs*2)	ATM_00380	-	-	-	-
10	c.1055dupT (Reported 4 times)	-	r.(?)	p.(Cys353Leufs*6)	ATM_00043	-	-	-	-
11	c.1110C>G	-	r.(?)	p.(Tyr370*)	ATM_00348	-	-	-	-
11	c.1110_1110delC	-	r.(?)	p.(Tyr370*)	ATM_00044	-	-	-	-
11	c.1120C>T	-	r.(?)	p.(Gln374*)	ATM_00045	-	-	-	-
11	c.1139_1140ins4 (Reported 2 times)	-	r.(?)	p.(Tyr380fs)	ATM_00046	-	-	-	-
11	c.1141_1142ins4	-	r.(?)	p.(Ser381fs)	ATM_00047	-	-	-	-
11	c.1158_1158delG	-	r.(?)	p.(Lys387Argfs*3)	ATM_00048	-	-	-	-
11	c.1179_1180delGG (Reported 2 times)	-	r.(?)	p.(Trp393*)	ATM_00049	-	-	-	-
11	c.1212_1213delGA (Reported 2 times)	-	r.(?)	p.(Asn405*)	ATM_00492	-	No ATM protein by Western	-	-
11	c.1235G>C	-	r.(?)	p.(Trp412Ser)	ATM_00357	aberrant splicing noted but not specified	-	-	-
11i	c.1236-405C>T	-	r.1235_1236ins212	p.(=)	ATM_00512	creation of pseudoexon	-	-	-
12	c.1236-2A>G (Reported 2 times)	-	r.1236_1242del7	p.(Trp412*)	ATM_00378	del first 7 nt of exon12	-	-	-
12	c.1240C>T	-	r.(?)	p.(Gln414*)	ATM_00050	-	-	-	-
12	c.1290_1291delTG (Reported 2 times)	-	r.(?)	p.(Cys430*)	ATM_00115	-	-	-	-
12	c.1333_1334insCC	-	r.(?)	p.(Gln445Profs*29)	ATM_00379	-	-	-	-
12	c.1339C>T (Reported 4 times)	-	r.(?)	p.(Arg447*)	ATM_00116	-	-	-	-
12	c.1346G>C (Reported 2 times)	-	r.(?)	p.(Gly449Ala)	ATM_00392	-	no protein analyzed	-	-
12	c.1348_1348delG (Reported 2 times)	-	r.(?)	p.(Glu450Asnfs*23)	ATM_00358	-	-	-	-
12	c.1355_1355delC (Reported 2 times)	-	r.(?)	p.(Thr452Asnfs*21)	ATM_00117	-	-	-	-
12	c.1396C>T	-	r.(?)	p.(Gln466*)	ATM_00423	-	-	-	-
12	c.1402_1403delAA (Reported 8 times)	-	r.(?)	p.(Lys468Glufs*18)	ATM_00085	-	-	-	-
12	c.1463G>A (Reported 2 times)	-	r.(?)	p.(Trp488*)	ATM_00405	allele 2 deletes exons 32-36	-	-	-
12	c.1464G>A	-	r.(?)	p.(Trp488*)	ATM_00523	-	-	-	-
12	c.1514_1515delTT (Reported 2 times)	-	r.(?)	p.(Phe505Trpfs*10)	ATM_00452	-	-	-	-
12	c.1520T>A (Reported 2 times)	-	r.(?)	p.(Leu507*)	ATM_00374	-	-	-	-
12	c.1524_1524delT	-	r.(?)	p.(Gly509Glufs*3)	ATM_00404	-	-	-	-
12	c.1564_1565delGA (Reported 39 times)	-	r.(?)	p.(Glu522Ilefs*43)	ATM_00086	-	-	-	-
12	c.1607+1G>T (Reported 4 times)	-	r.1407_1607del201	p.(Arg469fs)	ATM_00114	last 201 nt of exon 12 deleted in cDNA	-	-	-
13	c.1660delA	-	r.(?)	p.(Thr554Argfs*1)	ATM_00483	-	-	-	-
13	c.1709T>C	-	r.(?)	p.(Phe570Ser)	ATM_00091	-	-	-	-
13	c.1753_1756delTTAG	-	r.(?)	p.(Leu585Argfs*4)	ATM_00118	-	-	-	-
13	c.1782_1782delA	-	r.(?)	p.(Val595Cysfs*19)	ATM_00119	-	-	-	-
14	c.1863dupA (Reported 2 times)	-	r.(?)	p.(Ala622Serfs*13)	ATM_00045	-	-	-	-
14	c.1898+1G>T	-	r.1803_1898del96	p.(Asn602_Cys633del32)	ATM_00407	exon 14 deleted in cDNA	-	-	-
14	c.1898+2T>G (Reported 3 times)	-	r.1803_1898del96	p.(Asn602_Cys633del32)	ATM_00120	exon 14 deleted in cDNA	-	-	-
14	c.1898+3delAT	-	r.1803_1898del96	p.(Asn602_Cys633del32)	ATM_00055	exon 14 deleted in cDNA	-	-	-
15	c.1930_1931insAGATAAGAGAAAACTT	-	r.(?)	p.(Ser644*)	ATM_00122	-	-	-	-
15	c.1931C>A	-	r.(?)	p.(Ser644*)	ATM_00123	-	-	-	-
15	c.2062_2062delG	-	r.(?)	p.(Glu688Asnfs*15)	ATM_00124	-	-	-	-
15	c.2066C>G	-	r.(?)	p.(Ser689*)	ATM_00448	-	-	-	-
15	c.2113_2113delT	-	r.(?)	p.(Tyr705Thrfs*30)	ATM_00125	-	-	-	-
15	c.[2114_2115delAC;2119_2120insAC]	-	r.(?)	p.(705[TyrSerSer][PheIlePro])	ATM_00126	-	-	-	-

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Legend: [ ATM full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. do not use: DNA_reported RNA change: RNA change Protein change: Protein ATM DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. do not use: DNA remark Protein_data: Protein_data Frequency: Frequency of polymorphism. RE-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.

LOVD - Leiden Open Variation Database

Ataxia Telangiectasia Mutated (ATM)