All individuals with variants in gene ATM

3972 entries on 40 pages. Showing entries 1 - 100.
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00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 Global Variome, with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00034774 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034775 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034776 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034777 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034778 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034779 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034780 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034781 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034782 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034783 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034784 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034785 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034786 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034787 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034788 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034789 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034790 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034791 - - - - - Germany - - 0 - - ? clinically AT 1 1 Andreas Laner
00034792 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034793 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034794 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034795 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034796 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034797 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034798 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034799 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034800 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034801 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034802 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034803 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034804 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034805 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034806 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034807 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034808 - - - - - Germany - - 0 - - ? clinically AT 1 1 Andreas Laner
00034809 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034810 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034811 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034812 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034813 - - - - - Germany - - 0 - - ? clinically AT 1 1 Andreas Laner
00034814 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034815 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034816 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034817 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034818 - - - - - Germany - - 0 - - ? clinically AT 1 1 Andreas Laner
00034819 - - - - - Germany - - 0 - - ? clinically AT 1 1 Andreas Laner
00045741 - - 7 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - cancer, breast - 1 7 kConFab - Heather Thorne
00045742 - - 8 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - cancer, breast - 1 8 kConFab - Heather Thorne
00045743 - - 10 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - cancer, breast - 1 10 kConFab - Heather Thorne
00045744 - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - cancer, breast - 1 1 kConFab - Heather Thorne
00054747 - - - M - - - - 0 - - GIST - 1 1 Pränatalmedizin & Genetik MVZ Nürnberg
00073133 - ATX286 - M - France - - 0 - - AT - 2 1 Claire Guissart
00081417 - Kay, submitted EJHG - - - Peru - - 0 - - HD - 1 1 Chris Kay
00103996 Vogelaar-059A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 2 1 Marjolijn JL Ligtenberg
00103997 Vogelaar-059B PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00104032 Vogelaar-741A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00104033 Vogelaar-743A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00104957 - - 2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents F yes Russian Federation white - 0 - - AT HP:0001260 Dysarthria;HP:0005407 Decreased number of CD4+ T cells;HP:0002837 Recurrent bronchitis; HP:0006254 Elevated alpha-fetoprotein;HP:0001251 Ataxia;HP:0000524 Conjunctival telangiectasia;HP:0008348 Immunoglobulin IgG2 deficiency 1 1 Jekaterina Shubina
00104958 - - 2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents M yes Russian Federation white - 0 - - AT HP:0008348 Immunoglobulin IgG2 deficiency; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0005407 Decreased number of CD4+ T cells 1 1 Jekaterina Shubina
00104959 - - 2-generation family, 2 affected children (F,M),1 unaffected child, unaffected heterozygous carrier parents. unaffected carrier child F yes Russian Federation white - 0 - - Healthy/Control - 1 1 Jekaterina Shubina
00104980 - - 2-generation family, 2 affected children (F,M), 1 unaffected child, unaffected heterozygous carrier parents, unaffected mother. F ? Russian Federation white - 0 - - Healthy/Control - 1 1 Jekaterina Shubina
00104981 - - 2-generation family, 2 affected children (F,M),1 unaffected child, unaffected heterozygous carrier parents, unaffected father M - Russian Federation white - 0 - - Healthy/Control - 1 1 Jekaterina Shubina
00104982 - - 2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Child with ataxia-telangiectasia. F yes Russian Federation white - 0 - - AT HP:0008348 Immunoglobulin IgG2 deficiency;HP:0000524 Conjunctival telangiectasia; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0002837 Recurrent bronchitis; HP:0005407 Decreased number of CD4+ T cells 1 1 Jekaterina Shubina
00104983 - - 2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Unaffected father M ? Russian Federation white - 0 - - Healthy/Control - 1 1 Jekaterina Shubina
00104984 - - 2-generation family, 1 child (F) with Louis-Bar syndrome, unaffected heterozygous carrier parents. Unaffected mother F ? Russian Federation white - 0 - - Healthy/Control - 1 1 Jekaterina Shubina
00109566 - PubMed: Gilad 1996b - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109567 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109568 - PubMed: Byrd 1996; PubMed: Stankovic 1998 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109569 - PubMed: Gilad 1996b Initiation codon changed to Thr - - - - - 0 - - AT - 1 1 Patrick Concannon
00109570 - PubMed: Buzin 2003 Initiation codon changed to Thr - - - - - 0 - - AT - 2 1 Patrick Concannon
00109571 - PubMed: Teraoka 1999; PubMed: Buzin 2003 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109572 - PubMed: Buzin 2003 Initiation codon changed to Ile - - - - - 0 - - AT - 2 1 Patrick Concannon
00109573 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109574 - - - M ? Pakistan - - 0 - - AT - 1 1 Monica Martinez-Gallo
00109575 - PubMed: Sandoval 1999 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109576 - PubMed: Mitui 2003 - - - - Iberian - 0 - - AT - 2 1 Patrick Concannon
00109577 - PubMed: Teraoka 1999; PubMed: Becker-Catania 2000 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109578 - PubMed: Gilad 1998 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109579 - PubMed: Gilad 1998 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109580 - PubMed: Gilad 1996a - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109581 - PubMed: Mitui 2003 - - - - Iberian - 0 - - AT - 2 1 Patrick Concannon
00109582 - PubMed: Jeddane 2013 - - ? Morocco - - 0 - - AT - 2 1 Patrick Concannon
00109583 - PubMed: Magliozzi 2006 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109584 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109585 - PubMed: Castellvi-Bel 1999 - - - - North-American - 0 - - AT - 1 1 Patrick Concannon
00109586 - PubMed: Becker-Catania 2000 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109587 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109588 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109589 - PubMed: Stankovic 1998 - - - - - - 0 - - AT - 2 1 Patrick Concannon
00109590 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109591 - PubMed: Li and Swift 2000 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109592 - PubMed: Cavalieri 2006 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109593 - - - - - - - - 0 - - AT - 2 1 Kotoka Nakamura
00109594 - PubMed: Verhagen 2011 - - - Netherlands - - 0 - - AT - 2 1 Frans BL Hogervorst
00109595 - - - - - Netherlands - - 0 - - AT - 1 1 Frans BL Hogervorst
00109596 - PubMed: Laake 2000 - - - - - - 0 - - AT - 1 1 Patrick Concannon
00109597 - PubMed: Birrell 2005 - - - - - - 0 - - AT - 2 1 Patrick Concannon
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