Full data view for gene ATM

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Remarks     

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Age at death     

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+/. - c.3576G>A r.spl? p.(Lys1192=) Both (homozygous) - pathogenic g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Gilad 1998, PubMed: Magliozzi 2006, PubMed: Chessa 2009, PubMed: van Os 2019 - - Germline - - - - - DNA SEQ - - AT A(-T)2RM;24.It2 {PMID:Maserati 1988:3228996), PubMed: Gilad 1998 PubMed: Magliozzi 2006, PubMed: Chessa 2009, PubMed: van Os 2019 - F - Italy - - - - - 1 Patrick Concannon
+?/. 24 c.3576G>A r.3403_3576del p.Ser1135_Lys1192del Both (homozygous) - likely pathogenic g.108151895G>A g.108281168G>A - - ATM_000097 no protein on Western blot PubMed: Sandoval 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT Aa025;24G4 PubMed: Sandoval 1999, PubMed: Van Os 2019 - F - Turkey - - - - - 1 Patrick Concannon
+?/. 24 c.3576G>A r.3403_3576del p.Ser1135_Lys1192del Both (homozygous) - likely pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 no protein on Western blot PubMed: Sandoval 1999, PubMed: Van Os 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - AT Aa040;24G2 PubMed: Sandoval 1999, PubMed: Van Os 2019 - F - Italy - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #2 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Cavalieri 2006 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #2 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Cavalieri 2006 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #2 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #2 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Broeks 1998 - - - - - - - - - 1 Patrick Concannon
+/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Gilad 1998, PubMed: Chessa 2009 - - Germline - - - - - DNA SEQ - - AT AT31RM;24.It1 PubMed: Gilad 1998, PubMed: Chessa 2009, PubMed: van Os 2019 - F - Italy - 39y - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #2 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
+/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Gilad 1998; PubMed: Magliozzi 2006, {PMID:Chessa 2009:19691550, - - Germline - - - - - DNA SEQ - - AT AT42RM;24.It7 PubMed: Gilad 1998; PubMed: Magliozzi 2006, PubMed: Chessa 2009, PubMed: van Os 2019 - M - Italy - 46y - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 Exon 26 deleted - - - Germline - - - - - DNA SEQ - - AT - PubMed: Cavalieri 2006 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - VUS g.108151895G>A g.108281168G>A - - ATM_000097 Exon 26 deleted; same as patient 53-103 from Buzin 2003 - - - Germline - - - - - DNA SEQ - - AT - PubMed: Cavalieri 2006 - - - - - - - - - 1 Patrick Concannon
+/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #2 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Magliozzi 2006, PubMed: Chessa 2009 - - Germline - - - - - DNA SEQ - - AT AT95RM;24. It10 PubMed: Magliozzi 2006, PubMed: Chessa 2009, PubMed: van Os 2019 - M - Italy - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - VUS g.108151895G>A g.108281168G>A - - ATM_000097 founder mutation of Italian origin - - - Germline - - - - - DNA SEQ - - AT - PubMed: Telatar 1998 no specific patient indicated - - - - - - - - 1 Patrick Concannon
+?/. 24 c.3576G>A r.3403_3576del p.Ser1135_Lys1192del Parent #1 - likely pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 no variant 2nd chromosome PubMed: Sandoval 1999, PubMed: Van Os 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - AT Aa026;24G1b PubMed: Sandoval 1999, PubMed: Van Os 2019 family, 2 affected (F, M) M - Georgia - - - - - 2 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Teraoka 1999 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Buzin 2003 - - - - - - - - - 1 Patrick Concannon
+/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Gilad 1998, PubMed: van Os 2019 - - Germline - - - - - DNA SEQ - - AT AT35RM;24.It6a PubMed: Gilad 1998, PubMed: van Os 2019 - F - Italy - 50y - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Buzin 2003 - - - - - - - - - 1 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - VUS g.108151895G>A g.108281168G>A - - ATM_000097 - - - - Germline - - - - - DNA SEQ - - AT - PubMed: Buzin 2003 - - - - - - - - - 1 Patrick Concannon
+?/. 26 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Both (homozygous) - likely pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 Protein present by Western blot but no detectable kinase activity PubMed: Verhagen 2012 - - Germline - - - - - DNA SEQ - - AT Pat10 PubMed: Verhagen 2012 - - - Turkey Turkish - - - - 1 Frans BL Hogervorst
+/. 24 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 Protein present by Western blot but no detectable kinase activity PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT FamPat11II;23a;24.D2a PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 family, 2 affected (F, M) F - Netherlands Turkey 24y - - - 2 Frans BL Hogervorst
+/. 24 c.3576G>A r.[3404_3576del,3404_3746del] p.[Ser1135_Lys1192del,Ser1135fs] Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 exon 26 deleted in cDNA, minor product from deletion of exons 26 and 27 PubMed: Demuth 2011, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 14897;24L2a PubMed: Demuth 2011, PubMed: Van Os 2019 family, 2 affected (2F) F - Turkey Turkish - - - - 2 Patrick Concannon
?/. 26 c.3576G>A r.(3404_3576del, 3404_3746del343) p.(Ser1135_Lys1192del) Maternal (inferred) - VUS g.108151895G>A g.108281168G>A - - ATM_000097 exon 26 deleted in cDNA, minor product from deletion of exons 26 and 27 - - - Germline - - - - - DNA SEQ - - AT 14897;24L2a PubMed: Demuth 2011, PubMed: Van Os 2019 family, 2 affected (2F) F - Turkey Turkish - - - - 2 Patrick Concannon
+/. 24 c.3576G>A r.[3404_3576del,3404_3746del] p.[Ser1135_Lys1192del,Ser1135fs] Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 exon 26 deleted in cDNA, minor product deletion of exons 26 and 27 PubMed: Demuth 2011, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 13461;24L1a PubMed: Demuth 2011, PubMed: Van Os 2019 family, 2 affected (2M) M - Bulgaria - - - - - 2 Patrick Concannon
?/. 26 c.3576G>A r.spl p.(Lys1192=) Both (homozygous) - VUS g.108151895G>A g.108281168G>A - - ATM_000097 No ATM protein by Western - - - Germline - - - - - DNA SEQ - - AT - PubMed: Carranza 2016 - - ? Spain - - - - - 1 Patrick Concannon
+/. - c.3576G>A r.(?) p.(Lys1192=) Unknown - pathogenic g.108151895G>A g.108281168G>A ATM(NM_000051.3):c.3576G>A (p.(Lys1192=), p.Lys1192=), ATM(NM_000051.4):c.3576G>A (p.K1192=) - ATM_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3576G>A r.spl p.(Ser1135_Lys1192del) Unknown - pathogenic g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3576G>A r.spl p.(Ser1135_Lys1192del) Unknown - pathogenic g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3576G>A r.(?) p.(Lys1192=) Unknown - pathogenic g.108151895G>A g.108281168G>A ATM(NM_000051.3):c.3576G>A (p.(Lys1192=), p.Lys1192=), ATM(NM_000051.4):c.3576G>A (p.K1192=) - ATM_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3576G>A r.(?) p.(Lys1192Lys) Unknown ACMG pathogenic g.108151895G>A g.108281168G>A - - ATM_000097 ACMG: PVS1,PS3; Ataxia with increased AFP,; Demuth et al. 2011. Neurogenetics 12: 273-82; Cavalieri et al. 2006. Human Mutation 27: 1061; Jacquemin et al. 2012. Eur J Hum Gent 3: 305 - - rs587776551 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+?/. - c.3576G>A r.(?) p.(Lys1192=) Unknown - likely pathogenic g.108151895G>A - ATM(NM_000051.3):c.3576G>A (p.(Lys1192=), p.Lys1192=), ATM(NM_000051.4):c.3576G>A (p.K1192=) - ATM_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3576G>A r.spl p.? Both (homozygous) - likely pathogenic g.108151895G>A - - - ATM_000097 - PubMed: Verhagen 2007 - - Germline - - - - - DNA SEQ - - AT Pat9 PubMed: Verhagen 2007 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 24 c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT FamPat11I;23b;24.D2b PubMed: Verhagen 2012, PubMed: Van Os 2017, PubMed: Van Os 2019 relative M - Netherlands Turkey - - - - 1 Johan den Dunnen
+/. 24 c.3576G>A r.[3404_3576del,3404_3746del] p.[Ser1135_Lys1192del,Ser1135fs] Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Demuth 2011, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 13462;24L1b PubMed: Demuth 2011, PubMed: Van Os 2019 relative M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 24 c.3576G>A r.[3404_3576del,3404_3746del] p.[Ser1135_Lys1192del,Ser1135fs] Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Demuth 2011, PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 14897S;24L2b PubMed: Demuth 2011, PubMed: Van Os 2019 sister F - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.3576G>A r.(3403_3576del) p.(Ser1135_Lys1192del) Parent #1 - likely pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 no variant 2nd chromosome PubMed: Van Os 2019 - - Germline yes - - - - DNA SEQ - - AT 24G1a PubMed: Van Os 2019 relative F - Georgia - - - - - 1 Johan den Dunnen
+?/. 24 c.3576G>A r.3403_3576del p.Ser1135_Lys1192del Both (homozygous) - likely pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-49931A001;24.F2 PubMed: Micol 2011, PubMed: van Os 2019 - F - France Turkey - - - - 1 Johan den Dunnen
+?/. 24 c.3576G>A r.3403_3576del p.Ser1135_Lys1192del Parent #1 - likely pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 variant causes reduced expression or reduced protein activity PubMed: Micol 2011 - - Germline - - - - - DNA RT-PCR, SEQ - - AT 01-39137A001;39137A1;24.F1 PubMed: Micol 2011, PubMed: Jacquemin 2012, PubMed: van Os 2019 - M - France - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(3404_3576del) p.(Ser1135_Lys1192del) Unknown - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 variant associates milder phenotype (longer survival and less likely development of cancer, respiratory disease or immunodeficiency) PubMed: van Os 2019 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3576G>A r.spl p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Broccoletti 2008 - - Germline - - - - - DNA SEQ - - AT Pat1;24.It5a PubMed: Broccoletti 2008, PubMed: van Os 2019 2-generation family, 2 affected sisters F - Italy - - - - - 2 Johan den Dunnen
+/. - c.3576G>A r.spl p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Broccoletti 2008 - - Germline - - - - - DNA SEQ - - AT Pat2;24.It5b PubMed: Broccoletti 2008, PubMed: van Os 2019 sister F - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.spl p.(Ser1135_Lys1192del) Parent #2 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os 2019 - - Germline - - - - - DNA SEQ - - AT AT96RM;24. It11a PubMed: Magliozzi 2006, PubMed: van Os 2019 - F - Italy - - - - - 1 Patrick Concannon
+/. - c.3576G>A r.spl p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Chessa 2009 - - Germline - - - - - DNA SEQ - - AT AT3RM PubMed: Chessa 2009, PubMed: van Os 2019 - F - Italy - 27y - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA MLPA, SEQ - - AT 24.D3 PubMed: van Os 2019 - F - Netherlands Belgium - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT AT110RM;24.It3 PubMed: van Os 2019 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT AT113RM;24.It4a PubMed: van Os 2019 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT BF/24.It4b PubMed: van Os 2019 - M - Italy - 13y - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT AT34RM;24.It6b PubMed: van Os 2019 - M - Italy - 42y - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT ZS/24.It6c PubMed: van Os 2019 - M - Italy - <26y - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT ZA/24.It6d PubMed: van Os 2019 - M - Italy - <35y - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Chessa 2009 - - Germline - - - - - DNA SEQ - - AT AT85RM;24.It9 PubMed: Chessa 2009, PubMed: van Os 2019 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT AT143RM;24.It11b PubMed: van Os 2019 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA MLPA, SEQ - - AT AT135RM;24.It12 PubMed: van Os 2019 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: Chessa 2009 - - Germline - - - - - DNA SEQ - - AT AT125RM;24.It13 PubMed: Chessa 2009, PubMed: van Os 2019 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Parent #1 - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT AT128RM;24.It14 PubMed: van Os 2019 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Ser1135_Lys1192del) Both (homozygous) - pathogenic (recessive) g.108151895G>A g.108281168G>A - - ATM_000097 - PubMed: van Os2019 - - Germline - - - - - DNA SEQ - - AT 24.G3 PubMed: van Os 2019 - M - Turkey - 22y - - - 1 Johan den Dunnen
+/. - c.3576G>A r.(?) p.(Lys1192=) Unknown - pathogenic g.108151895G>A - ATM(NM_000051.3):c.3576G>A (p.(Lys1192=), p.Lys1192=), ATM(NM_000051.4):c.3576G>A (p.K1192=) - ATM_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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