View all contents - LOVD - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the ATM database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than ATM, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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.

1286 public entries
entries per page

Path.

Exon

DNA change

do not use

RNA change

Protein change

DB-ID

do not use

Protein_data

Frequency

RE-site

Disease

Phenotype additional

Remarks

Reference

Geographic origin

Ethnic origin

Gender

Inher.

Cons.

# Reported


?/?	4	c.? + c.?	-	r.-30_185del	p.(0?)	ATM_00001	exons 4 and 5 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b	-	-	-	-	-	1
?/?	4	c.? + c.?	-	r.-30_185del	p.0?	ATM_00001	exons 4 and 5 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b	-	-	-	-	-	1
?/?	4	c.2T>C + c.6405_6406insTT	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Stankovic 1998	-	-	-	-	-	1
?/?	4	c.2T>C + c.640_640delT	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Byrd et al. 1996, Stankovic 1998	-	-	-	-	-	1
?/?	4	c.2T>C	-	r.(?)	p.(Met1)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	Initiation codon changed to Thr	Gilad et al. 1996b	-	-	-	-	-	1
?/?	4	c.2T>C + c.8418+1_8418+4delGTGA	-	r.(?)	p.(Met1Thr)	ATM_00002	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	Initiation codon changed to Thr	Buzin et al 2003	-	-	-	-	-	1
?/?	4	c.3G>A + c.2466+1G>A	-	r.(?)	p.(0)?	ATM_00414	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999, Buzin et al. 2003	-	-	-	-	-	1
?/?	4	c.3G>A + c.7793-7798delinsCC	-	r.(?)	p.(Met1Ile)	ATM_00414	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	Initiation codon changed to Ile	Buzin et al 2003	-	-	-	-	-	1
?/?	4	c.27_27delT + c.27_27delT	-	r.(?)	p.(Ile10Serfs*6)	ATM_00003	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Sandoval 1999	-	-	-	-	-	1
?/?	4	c.27_27delT + c.27_27delT	-	r.(?)	p.(Ile10Serfs*6)	ATM_00003	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Sandoval 1999	-	-	-	-	-	1
+/?	4	c.67C>T + c.67C>T	-	r.?	p.(Arg23*)	ATM_00486	-	-	-	-	AT	-	-	Spain:Barcelona	Pakistan	-	Male	familial, autosomal recessive	?	1
?/?	4	c.72+2T>C + c.8395_8404del10	-	r.(?)	p.(?)	ATM_00004	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Sandoval 1999	-	-	-	-	-	1
?/?	5	c.103C>T + c.3802_3802delG	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2003	-	-	-	-	-	1
?/?	5	c.103C>T + c.1027_1030delGAAA	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999, Becker-Catania et al. 2000	-	-	-	-	-	1
?/?	5	c.103C>T + c.103C>T	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1998	-	-	-	-	-	1
?/?	5	c.103C>T + c.103C>T	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1998	-	-	-	-	-	1
?/?	5	c.103C>T + c.103C>T	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1998	-	-	-	-	-	1
?/?	5	c.103C>T + c.103C>T	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1998	-	-	-	-	-	1
?/?	5	c.103C>T + c.103C>T	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996a	-	-	-	-	-	1
?/?	5	c.103C>T + c.103C>T	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996a	-	-	-	-	-	1
?/?	5	c.103C>T + c.8105T>G	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2003	-	-	-	-	-	1
?/?	5	c.103C>T + c.2921+1G>A	-	r.(?)	p.(Arg35*)	ATM_00005	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Jeddane et al. 2013	Morocco	-	-	familial, autosomal recessive	?	1
?/?	5	c.128T>C + c.4844_4844delA	-	r.(?)	p.(Leu43Pro)	ATM_00426	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Magliozzi et al. 2006	-	-	-	-	-	1
?/?	5	c.138_141delTTCA + c.7638_7646del9	-	r.(?)	.(His46Glnfs*9)	ATM_00006	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Stankovic 1998	-	-	-	-	-	1
?/?	5	c.146C>G	-	r.(?)	p.(Ser49Cys)	ATM_00007	There are known unaffected homozygotes for this variant	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Castellvi-Bel et al. 1999	-	North-America	-	-	-	1
?/?	5	c.146C>G	-	r.(?)	p.(Ser49Cys)	ATM_00007	known unaffected homozygotes for this variant	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Becker-Catania et al. 2000	-	-	-	-	-	1
?/?	5	c.170G>A	-	r.(?)	p.(Trp57*)	ATM_00008	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	5	c.170G>A	-	r.(?)	p.(Trp57*)	ATM_00008	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	6	c.? + c.7829_7830delGA	-	r.186_331del	p.(Phe63fs)	ATM_00009	exon 6 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Stankovic 1998	-	-	-	-	-	1
?/?	6	c.217_218delGA	-	r.(?)	p.(Glu73Metfs*26)	ATM_00010	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	6	c.299T>A	-	r.(?)	p.(Leu100*)	ATM_00011	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	6	c.331A>T	-	r.(?)	p.(Arg111*)	ATM_00401	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Cavalieri et al. 2006	-	-	-	-	-	1
?/?	6	c.331+5G>A + c.5415G>A	-	r.186_331del146	p.(Arg63fs)	ATM_00434	exon 6 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	United States:Los Angeles	-	-	-	-	-	1
+/?	6	c.331+5G>A + c.7875_7876delTGinsGC	-	r.186_331del146	p.(Arg63fs)	ATM_00434	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Verhagen et al. 2011, Netherlands:Amsterdam	-	Netherlands	-	familial, autosomal recessive	-	1
+/?	6	c.331+5G>A + c.331+5G>A	-	r.186_331del146	p.(Arg63fs)	ATM_00434	exon 6 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Netherlands:Amsterdam	-	Netherlands	-	-	-	1
?/?	7	c.332-1G>A	-	r.332_496del	p.(Arg111_Glu166delinsLys)	ATM_00012	exon 7 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Laake et al. 2000	-	-	-	-	-	1
?/?	7	c.362T>A + c.4777-2A>C	-	r.(?)	p.(Leu121*)	ATM_00387	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Birrell et al. 2005	-	-	-	-	-	1
?/?	7	c.362T>A + c.4110-9C>G	-	r.(?)	p.(Leu121*)	ATM_00387	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Demuth et al. 2011	-	Russian	-	-	-	1
?/?	7	c.368_368delA	-	r.(?)	p.(Tyr123Leufs*6)	ATM_00013	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	7	c.370_374delATCAT	-	r.(?)	p.(Ile124Glyfs*8)	ATM_00014	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	7	c.378T>A + c.378T>A, c.9022C>T, c.9022C>T	-	r.(?)	p.(Asp126Glu)	ATM_00372	reported unaffected homozygotes for this variant	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Angele et al. 2003	-	-	-	-	-	1
?/?	7	c.378T>A + c.378T>A, c.9022C>T, c.9022C>T	-	r.(?)	p.(Asp126Glu)	ATM_00372	reported unaffected homozygotes for this variant	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Angele et al. 2003	-	-	-	-	-	1
?/?	7	c.381_381delA + c.742C>T	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999, Mitui et al. 2005	-	-	-	-	-	1
?/?	7	c.381_381delA + c.742C>T	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2005	-	-	-	-	-	1
?/?	7	c.381_381delA + c.[5631_5635delCTCGC;5639_5640insA]	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Babaei et al. 2005	-	-	-	-	-	1
?/?	7	c.381_381delA + c.[5631_5635delCTCGC;5639_5640insA]	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Babaei et al. 2005	-	-	-	-	-	1
?/?	7	c.381_381delA + c.7010_7011delGT	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2005	-	-	-	-	-	1
?/?	7	c.381_381delA	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Castellvi-Bel et al. 1999	Poland	-	-	-	-	1
?/?	7	c.381_381delA + c.3402+30_3402+32delATC	-	r.(?)	p.(Val128*)	ATM_00015	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Podralska et al. 2014	(Poland)	-	Male	familial, autosomal recessive	?	1
?/?	7	c.397_398insT + c.748C>T	-	r.397_398insT	p.(Asn133Ilefs*8)	ATM_00441	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	United States:Los Angeles	JAPAN	JAPAN	-	-	-	1
?/?	7	c.432dupA	-	r.(?)	p.(Leu145Thrfs*14)	ATM_00016	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Telatar et al. 1998	Poland	-	-	-	-	1
?/?	7	c.432dupA + c.5932G>T	-	r.(?)	p.(Leu145Thrfs*14)	ATM_00016	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999, Mitui et al. 2005	-	-	-	-	-	1
?/?	7	c.434T>G + c.6145T>G	-	r.(?)	p.(Leu145Arg)	ATM_00507	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Podralska et al. 2014	Poland	-	Male	familial, autosomal recessive	?	1
?/?	7	c.450_453delTTCT + c.7517_7520delGAGA	-	r.(?)	p.(Ser151*)	ATM_00428	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b, Magliozzi et al. 2006	-	-	-	-	-	1
?/?	7	c.480_484delTCAGC	-	r.(?)	p.(Gln161Thrfs*22)	ATM_00017	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Izatt et al. 1999	-	-	-	-	-	1
?/?	7	c.484C>T	-	r.332_496del165	p.(Gln162*)	ATM_00018	deletion exon 7 confirmed in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Ejima and Sasaki, 1998	-	-	-	-	-	1
+/?	7	c.484C>T	-	r.332_496del165	p.(Gln162*)	ATM_00018	deletion exon 7 confirmed in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Netherlands:Amsterdam	-	Netherlands	-	-	-	1
?/?	7	c.487C>T + c.3284G>C	-	r.(332_496del165)	p.(Gln163*)	ATM_00019	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Laake et al. 2000	-	-	-	-	-	1
?/?	7	c.496+5G>A + c.7875_7876delTGinsGC	-	r.332_496del165	p.(Arg111_Glu166del55insLys)	ATM_00389	exon 7 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	slow disease progression	-	Dork et al. 2004	-	-	-	-	-	1
?/?	7	c.496+5G>A	-	r.332_496del165	p.(Arg111_Glu166del55insLys)	ATM_00389	exon 7 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Netherlands:Amsterdam	-	NL	-	-	-	1
?/?	8	c.? + c.?	-	r.(497_8010del7514)	p.(Glu166fs)	ATM_00009	genomic deletion removing exons 8-56	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b	-	-	-	-	-	1
?/?	8	c.? + c.?	-	r.(497_8010del7514)	p.(Glu166fs)	ATM_00009	genomic deletion removing exons 8-56	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b	-	-	-	-	-	1
?/?	8	c.? + c.7638_7646del9	-	r.(497_662del)	p.(Glu166fs)	ATM_00021	exon 8 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Byrd et al. 1996	-	-	-	-	-	1
?/?	8	c.513C>T + c.513C>T	-	r.[513C>T, 497_518del]	p.Glu160fs	ATM_00366	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Babaei et al. 2005	-	-	-	-	-	1
?/?	8	c.513C>T + c.513C>T	-	r.[513C>T, 497_518del]	p.Glu160fs	ATM_00366	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Babaei et al. 2005	-	-	-	-	-	1
?/?	8	c.513T>G + c.513T>G	-	r.(?)	p.(Tyr171*)	ATM_00022	Reference sequence has "C" rather than "T" at position 513	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Sandoval 1999	-	-	-	-	-	1
?/?	8	c.513T>G + c.513T>G	-	r.(?)	p.(Tyr171*)	ATM_00022	Reference sequence has "C" rather than "T" at position 513	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Sandoval 1999	-	-	-	-	-	1
?/?	8	c.597T>A	-	r.(?)	p.(Cys199*)	ATM_00023	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	8	c.610G>T + c.6679C>T	-	r.(?)	p.(Gly204*)	ATM_00391	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Jiang et al. 2006	China	-	-	-	-	1
?/?	8	c.640_640delT + c.2T>C	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Byrd et al. 1996, Stankovic 1998	-	-	-	-	-	1
?/?	8	c.640_640delT + c.640_640delT	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Coutinho et al. 2004	-	-	-	-	-	1
?/?	8	c.640_640delT + c.640_640delT	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Coutinho et al. 2004	-	-	-	-	-	1
?/?	8	c.640_640delT + c.2413C>T	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2003	-	-	-	-	-	1
?/?	8	c.640_640delT + c.640_640delT	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Demuth et al. 2011	Portugal	-	Male	-	-	1
+/?	8	c.640_640delT + c.802C>T	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Carranza et al., 2016, Spain:18016 Armilla, Granada	Spain	-	Male	familial, autosomal recessive	?	2
?/?	8	c.640_640delT + c.3137T>C	-	r.(?)	p.(Ser214Profs*16)	ATM_00025	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Carranza et al., 2016, Spain:18016 Armilla, Granada	Spain	-	-	familial, autosomal recessive	?	1
?/?	8	c.662G>T	-	r.(497_662del)	p.(Glu166fs)	ATM_00024	exon 8 deleted in cDNA	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Laake et al. 2000	-	-	-	-	-	1
?/?	9	c.663-3_663-2delCA	-	r.(663_901del)	p.(Gln222fs)	ATM_00026	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Castellvi-Bel et al. 1999	Turkey	-	-	-	-	1
?/?	9	c.670A>G	-	r.(?)	p.(Lys224Glu)	ATM_00027	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	9	c.692A>G	-	r.(?)	p.(His231Arg)	ATM_00429	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	compound heterozygote, second allele not detected by DHPLC	Magliozzi et al. 2006	-	-	-	-	-	1
?/?	9	c.716_716delT + c.716_716delT	-	r.(?)	p.(Phe239Serfs*16)	ATM_00334	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2003	-	-	-	-	-	1
?/?	9	c.716_716delT + c.716_716delT	-	r.(?)	p.(Phe239Serfs*16)	ATM_00334	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2003	-	-	-	-	-	1
?/?	9	c.717_720delCCTC + c.8473C>T	-	r.(?)	p.(Phe239Leufs*15)	ATM_00403	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Cavalieri et al. 2006	-	-	-	-	-	1
?/?	9	c.717_720delCCTC	-	r.(?)	p.(Phe239Leufs*15)	ATM_00403	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Magliozzi et al. 2006	-	-	-	-	-	1
+/?	9	c.717_720delCCTC	-	r.(?)	p.(Phe239Leufs*15)	ATM_00403	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Netherlands:Amsterdam	-	NL	-	-	-	1
?/?	9	c.738_739delCTinsA	-	r.(?)	p.(Asn246Lysfs*9)	ATM_00465	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Netherlands:Amsterdam	-	-	-	-	-	1
?/?	9	c.741_741delT	-	r.(?)	p.(Arg248Glufs*7)	ATM_00028	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Broeks et al. 1998	-	-	-	-	-	1
?/?	9	c.742C>T + c.381_381delA	-	r.(?)	p.(Arg248*)	ATM_00346	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999, Mitui et al. 2005	-	-	-	-	-	1
?/?	9	c.742C>T + c.381_381delA	-	r.(?)	p.(Arg248*)	ATM_00346	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2005	-	-	-	-	-	1
?/?	9	c.748C>T + c.2849T>G	-	r.(663_901del)	p.(Arg221*)	ATM_00029	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999, Buzin et al. 2003	-	-	-	-	-	1
?/?	9	c.748C>T + c.397_398insT	-	r.(663_901del)	p.(Arg221*)	ATM_00029	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	United States:Los Angeles	JAPAN	JAPAN	-	-	-	1
?/?	9	c.756_757delTG + c.756_757delTG	-	r.(?)	p.(Cys252*)	ATM_00030	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b	-	-	-	-	-	1
?/?	9	c.756_757delTG + c.756_757delTG	-	r.(?)	p.(Cys252*)	ATM_00030	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Gilad et al. 1996b	-	-	-	-	-	1
?/?	9	c.790_790delT	-	r.(?)	p.(Tyr264Ilefs*12)	ATM_00031	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Sandoval 1999	-	-	-	-	-	1
?/?	9	c.790_790delT	-	r.(?)	p.(Tyr264Ilefs*12)	ATM_00031	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Li and Swift, 2000	-	-	-	-	-	1
?/?	9	c.790_790delT + c.7630-2A>C	-	r.(?)	p.(Tyr264Ilefs*12)	ATM_00031	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Mitui et al. 2003	-	-	-	-	-	1
?/?	9	c.790_790delT + c.2250G>A	-	r.(?)	p.(Tyr264Ilefs*12)	ATM_00031	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Buzin et al. 2003	-	-	-	-	-	1
+/?	9	c.790_790delT + c.1564_1565delGA	-	r.(?)	p.(Tyr264Ilefs*12)	ATM_00031	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Verhagen et al. 2011, Netherlands:Amsterdam	Netherlands	-	Male	-	-	1
?/?	9	c.794_795ins4 + c.?	-	r.(?)	p.(Ile265fs)	ATM_00032	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Stankovic 1998	-	-	-	-	-	1
?/?	9	c.802C>T	-	r.(663_901del)	p.(Gln268*)	ATM_00033	-	-	-	-	Ataxia-Telangiectasia (OMIM208900)	-	-	Teraoka et al. 1999	-	-	-	-	-	1

1 - 100
[<<] [<-] 1 2 3 4 5 6 ... [->] [>>]

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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Reference: Reference Geographic origin: geographic origin of patient; (France) = reported by laboratory in France, origin patient not sure geographic origin of patient; (France) = reported by laboratory in France, origin patient not sure Ethnic origin: Ethnic origin of patient Gender: Patient gender Inher.: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) unknown Cons.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) # Reported: Number of times this case has been reported

LOVD - Leiden Open Variation Database

Ataxia Telangiectasia Mutated (ATM)