All individuals with variants in gene XRCC2

224 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00063787 - PubMed: Shamseldin 2012 4-generation family, unaffected heterozygous carrier parents - yes Saudi Arabia - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00063788 - PubMed: Park 2012 - - ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063789 - PubMed: Park 2012 - - ? - East Asian - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063790 - PubMed: Park 2012 - F ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063791 - PubMed: Park 2012 - F ? - East Asian - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063792 - - - - ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063793 - PubMed: Park 2012 - F ? Netherlands white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063794 - PubMed: Park 2012 - F ? Australia white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063795 - PubMed: Park 2012 - - ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063796 - PubMed: Park 2012 - - ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063797 - PubMed: Park 2012 - - ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063798 - PubMed: Park 2012 - - ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063799 - - - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063800 - PubMed: Park 2012 - - ? - East Asian - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063801 - - - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063802 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063803 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063804 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063805 - - - - ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063806 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063807 - PubMed: Park 2012 - M ? Australia white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063808 - PubMed: Park 2012 - F ? - white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063809 - PubMed: Park 2012 - F ? Australia white - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063810 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063811 - PubMed: Park 2012 - F ? - East Asian - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063812 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063813 - PubMed: Hilbers 2012 - F ? - - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063814 - PubMed: Park 2012 - - ? - African - 0 - - cancer, breast - 1 1 Johan den Dunnen
00063815 - PubMed: Hilbers 2012 - F ? United States - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063816 - PubMed: Hilbers 2012 - F ? Spain - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063817 - PubMed: Hilbers 2012 - F ? Spain - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063818 - PubMed: Hilbers 2012 - F ? United States - - 0 - - cancer, breast - 1 1 Florentine Hilbers
00063819 - PubMed: Hilbers 2012 control - ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063820 - PubMed: Hilbers 2012 control F ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063821 - PubMed: Hilbers 2012 control F ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063822 - PubMed: Hilbers 2012 control F ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063823 - PubMed: Hilbers 2012 control F ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063824 - PubMed: Hilbers 2012 control F ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063825 - PubMed: Hilbers 2012 control F ? - - - 0 - - Healthy/Control - 1 1 Florentine Hilbers
00063826 - PubMed: Shamseldin 2012, PubMed: Park 2016, Journal: Park 2016 4-generation family, unaffected heterozygous carrier parents (first cousin) M yes Saudi Arabia - - 0 - - FANC 0d-left facial nerve palsy, microcephaly, bilaterally absent thumbs, ectopic left kidney, haemodynamically stable patent ductus arteriosus, normal blood indices/karyotype, complete absence first metacarpal and scaphoid bones bilaterally, absent left radius, hypoplastic right radius; followup severe growth deficiency, microcephaly, marked increase dsDNA breaks diepoxybutane test, see 2nd paper; no bone marrow failure (normal haematological counts haemoglobin, thrombocytes, leukocytes, neutrophils), ... 1 1 Johan den Dunnen
00301737 18DG0164 PubMed: Maddirevula 2019 - F - Saudi Arabia - - 0 - - ? born at full term via vaginal delivery. At birth, she was noted to have borderline microcephaly (OFC was 33 cm), birth weight was 2.4, and length was 48 cm. She was also noted to have bilateral hypoplastic thumb, multiple café late spots, strabismus, and dysmorphic facial features (epicanthal fold and short neck). She developed failure to thrive with progressive microcephaly (at age of three years her weight was 10.4 kg, head circumference was 45 cm, and height was 84.6 cm). Her development was appropriate for her age. 1 1 Johan den Dunnen
00336084 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341797 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341798 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 4 BRIDGES consortium
00341799 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341800 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341801 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341802 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341803 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341804 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341805 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341806 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 3 BRIDGES consortium
00341807 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341808 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341809 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 4 BRIDGES consortium
00341810 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341811 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341812 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341813 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341814 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341815 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341816 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341817 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341818 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341819 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341820 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341821 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341822 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341823 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341824 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341825 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341826 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341827 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341828 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341829 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341830 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341831 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341832 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341833 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341834 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341835 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341836 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341837 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341838 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341839 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341840 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341841 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341842 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341843 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341844 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 2 BRIDGES consortium
00341845 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00341846 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - Healthy/Control - 1 1 BRIDGES consortium
00349096 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 2 BRIDGES consortium
00349097 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00349098 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00349099 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00349100 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00349101 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
00349102 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 3 BRIDGES consortium
00349103 - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - cancer, breast - 1 1 BRIDGES consortium
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