All individuals with variants in gene SERPING1

1192 entries on 12 pages. Showing entries 1 - 100.
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00229800 - - Three independent families. - no France - - - - - HAE1;HAE2 Three independent families. Probands presenting with a HAE type I phenotype 1 6 Christian Drouet
00229801 - - Single family - no Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229802 - - Single family - - Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229804 - - Single family - - Algeria - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229806 - - Two independent families have been shown as carrying a c.312dup variant Family 1, France (n=2) Family 2, Russia (n=2) - no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 4 Christian Drouet
00229807 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229808 - - Two independent kindreds have been reported as carrying a c.390C>G variant Family 1, Spain Family 2, United States of America - - Spain - - - - - HAE1;HAE2 Probands presenting with a HAE type II phenotype or an intermediate type with a defective C1-INH expression 1 4 Christian Drouet
00229809 - - Five independent pedigrees are carrying the c.403_404del variant Family 1, France Family 2, France Family 3, Japan Family 4, China Family 5, Russia (n=4) - no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 4 Christian Drouet
00229810 - - Two independent families have been shown as carrying a c.430del variant Family 1, Spain Family 2, East Russia (n=2) - no Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 3 Christian Drouet
00229811 - - Single family - no Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229812 - - Single family - - France - - - - - HAE1;HAE2 Proband presenting with a HAE of the intermediate type, where low antigenic C1 Inhibitor is associated with an expression of the variant allele Mild clinical phenotype 1 1 Christian Drouet
00229813 - - Single family with 5 affected individuals - no France (Algeria) - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 5 Christian Drouet
00229814 - - Two independent families have been shown as carrying a c.462C>G variant Family 1, Spain Family 2, (United States of America) - no Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229815 - - Single family - no Netherlands - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229816 - - Single family - no Netherlands - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229817 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229818 - - Single family with 3 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 3 Christian Drouet
00229819 - - Single family, with father proband with a de novo situation and 2 affected daughters M no France - - - - - HAE1;HAE2 Proband presenting with a HAE of the intermediate type, where low antigenic C1 Inhibitor is associated with co-expression of both variant and wt alleles 1 3 Christian Drouet
00229820 - - Abundant observations of pathogenic variants at position c.550, but only three records of a c.550G>T variant Three independent pedigrees have been recorded Family 1, Czech Republic Family 2, Spain Family 3, China (n=2) - no Spain - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 4 Christian Drouet
00229821 - - Two independent families have been shown as carrying a c.589C>G variant Family 1, France Family 2, (United States of America) F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229822 - - Family 1, France (n=1) Family 2, France (n=3) - - France - - - - - HAE1;HAE2 Family 1, France (n=1) Family 2, France (n=3) Probands presenting with a HAE of the intermediate type where low antigenic C1 Inhibitor is associated with a co-expression of both variant and wt alleles 1 4 Christian Drouet
00229823 - - Single family - - Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229825 - - Four families have been shown as carrying a c.613T>C variant Three independent Spanish families, One additional Russian family - no Spain - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 4 Christian Drouet
00229826 - - Two independent families have been shown as carrying a c.641C>G variant Family 1, Spain Family 2, (United States of America) - - Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229827 - - Single family with 2 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229828 - - Single family with a de novo female proband F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype and a de novo mutation 1 1 Christian Drouet
00229829 - - Single family with homozygous affected individual - - France - - - - - HAE1;HAE2 Homozygous proband with c.[668A>C];[668A>C] presenting with a HAE type II phenotype 1 1 Christian Drouet
00229830 - - Single family with 2 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE phenotype of the intermediate type: low antigenic C1-INH and a co-expression of both wt and variant alleles 1 2 Christian Drouet
00229831 - - Single family with 3 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 3 Christian Drouet
00229833 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229834 - Journal: Grombirikova 2023 Journal: Kron 2023 Three independent kindreds have been shown to carry a c.686-7C>G variant with a decreased function of C1-INH in plasma -Family 1, France (n=1) -Family 2, Czech Republic (n=2; mother and daughter) -Family 3, USA (n=1; female individual) F no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype Carrier of a c.686-7C>G variant initially characterized as VUS, next as likely pathogenic from additional demonstration of splicing defect (2023) 1 4 Christian Drouet
00229835 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229836 - - Single family - no Netherlands - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229837 - Journal: Sheikh 2022 Two independent kindreds have been shown as carrying a c.776T>A variant -1. France. Family of African origin (n=5) -2. Saudi Arabia (n=4) - no France (African) - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 9 Christian Drouet
00229838 - - Three independent pedigrees are carrying a c.785T>C variant Family 1, France (n=3) Family 2, France (n=4) Family 3, France (n=2) - - France - - - - - HAE1;HAE2 Probands presenting with a HAE of the intermediate type, with expression of both variant and wild-type alleles 1 9 Christian Drouet
00229839 - - Single family with 4 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 4 Christian Drouet
00229840 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229841 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with a HAE of the intermediate type, where low antigenic C1-INH is associated with co-expression of both variant and wt alleles 1 2 Christian Drouet
00229842 - - Single family M no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229843 - - Single family - no Netherlands - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229844 - - Single family with affected grandmother, her daughter and her 2 granddaughters F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 4 Christian Drouet
00229845 - - Two independent French and Spanish pedigrees - no France Spain - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 2 Christian Drouet
00229846 - - Single family - no Spain - - - - - HAE1;HAE2 Proband likely presenting with a HAE type I phenotype 1 1 Christian Drouet
00229848 - - Family 1 (n=1) Family 2 (n=1) - - France - - - - - HAE1;HAE2 Probands in 2 independent families presenting with a HAE type I phenotype 1 2 Christian Drouet
00229849 - - Two independent pedigrees - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 4 Christian Drouet
00229850 - - Single family with 4 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 4 Christian Drouet
00229851 - - Three independent families are carrying the c.938T>C variant Family 1, United Kingdom (n=1) Family 2, France (n=1) de novo proband Family 3, France (n=1) - - France - - - - - HAE1;HAE2 Family 1 (n=1) Family 2 (n=1) with a proband presenting with a de novo condition, identified as isolated (sporadic) inheritance Family 3 (n=1) Probands presenting with a HAE of the intermediate type, where low antigenic C1 Inhibitor is associated with co-expression of both variant and wt alleles 1 3 Christian Drouet
00229852 - - Single family with 4 affected individuals M no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 4 Christian Drouet
00229853 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229854 - - Three independent pedigrees have been shown as carrying a c.950del varian Family 1, Germany Family 2, France (n=3) Family 3, Russia - no France - - - - - HAE1;HAE2 Two independent pedigrees; Germany and France. Probands presenting with a HAE type I phenotype 1 5 Christian Drouet
00229855 - - Single family with 4 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE of the intermediate type where low antigenic C1 Inhibitor is associated with co-expression of both variant and wt alleles 1 4 Christian Drouet
00229856 - - Family, France, presenting with a de novo proband - - France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229857 - - Family 1 France (n=1), with a probant presenting with a de novo condition Family 2, Spain (n=3) - no France - - - - - HAE1;HAE2 Family 1 (n=1), with a proband presenting with a de novo condition Family 2 (n=3) Probands presenting with a HAE of the intermediate type, where low antigenic C1 Inhibitor is associated with a co-expression of both variant and wt alleles 1 4 Christian Drouet
00229858 - - Single family with 3 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE of the intermediate type, where low antigenic C1-INH is associated with a co-expression of both variant and wt alleles 1 3 Christian Drouet
00229859 - - Single family with 3 affected individuals F no France - - - - - HAE1;HAE2 Proband with a HAE of the intermediate type, where low antigenic C1 Inhibitor is associated with a co-expression of both variant and wt alleles. Moderate symptomatolgy for 3 carriers. 1 3 Christian Drouet
00229860 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with HAE of the intermediate type, where low antigenic C1-INH is associated with a co-expression of both variant and wt alleles 1 1 Christian Drouet
00229861 - - Single family - no Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229862 - - Single family with a single female affected individual F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229863 - - Two independent kindreds have been recorded as carrying a c.995del variant Family 1, France Family 2, Brazil (n=3) - no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype Brazil (n=3), with severe (n=1) and mild (n=2) individuals France (n=1) 1 5 Christian Drouet
00229864 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE of the intermediate phenotype, where a low antigenic C1 Inhibitor is associated with an expression of the variant allele 1 1 Christian Drouet
00229865 - - A single French pedigree with 4 affected individuals - - France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 4 Christian Drouet
00229867 - - Two independent pedrigrees have been shown as carrying a c.1030-1G>T variant Family 1, France (n=3) Family 2, Russia (n=2) - - France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 5 Christian Drouet
00229868 - - Five pedigrees are carrying a c.1034G>A variant Family 1, France, de novo proband Family 2, Spain Family 3, France (n=2) Family 4, France (n=2) Family 5, France (n=1) Family 6, Japan - no France Spain Japan - - - - HAE1;HAE2 Probands from 5 independent families presenting with a HAE type I phenotype. Family 1, France, with a proband presenting with a de novo condition; family 2, Spain, published by Pedrosa 2016; families 3-5, France 1 8 Christian Drouet
00229870 - - Single family with 3 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 3 Christian Drouet
00229871 - - Single individual - no (Algeria) - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229872 - - Single family with severely affected mother and daughter F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229873 - - Family 1, France (n=1) Family 2, India (n=2) - - France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 3 Christian Drouet
00229875 - - Single family - no Netherlands - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229876 - - Single family with 2 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229877 - - Single family with 2 affected individuals M no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229878 - - Single family with de novo proband - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype and in a de novo condition 1 1 Christian Drouet
00229879 - - Two independent pedigrees have been shown as carrying a c.1100T>C variant Family 1, France (n=1) Family 2, Spain Canary Island (n=1) - - France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229880 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229881 - - Two independent pedigrees are carrying a c.1114delC variant Family 1, France (n=4) Family 2, France (n=1) - no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 5 Christian Drouet
00229882 - - Single family with a severely affected proband F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229884 - - Two independent kindreds have been published as carrying a c.1195C>G variant Family 1, France (n=2), with a de novo proband Family 2, United States - no France United States - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 3 Christian Drouet
00229885 - - Two independent families are carrying the variant c.1202T>G - no France - - - - - HAE1;HAE2 Heterozygous probands in both families are presenting with a HAE type I phenotype 1 2 Christian Drouet
00229886 - - Single family M no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229887 - - Single individual M no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229888 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 5 Christian Drouet
00229889 - - Two independent pedigrees have been recorded to carry a c.1249G>T variant Family 1 (France), n=2 Family 2 (Germany), n=1 - no France Germany - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 3 Christian Drouet
00229890 - Journal: Ponard 2019 Two independent families have been shown as carrying a c.1249+1G>T variant Family 1, France (n=1) Family 2, Slovakia (n=1) - no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 2 Christian Drouet
00229891 - - Single family - no United Kingdom (Great Britain) - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229892 - - Single family - no Spain - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229893 - - Four independent pedigrees are carrying a c.1312del variant, even if both families from Latvia and Hungary are independent or not Family 1, France (n=1) Family 2, China (n=1) Family 3, Latvia (n=3) Family 4, Hungary (n=2) - no France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 6 Christian Drouet
00229894 - - A single pedigree has been recorded, with a female proband severely affected and his son presenting with a mild phenotype F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type II phenotype 1 2 Christian Drouet
00229895 - - Single family with 2 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type II phenotype 1 2 Christian Drouet
00229896 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229897 - - Two independent pedigrees - - France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 2 Christian Drouet
00229899 - - Two independent families have been shown as carrying a c.1379C>A variant Family 1, France Family 2, Russia - no Spain - - - - - HAE1;HAE2 Probands presenting with a HAE type II phenotype, where the variant allele is fully expressed with the wt allele 1 2 Christian Drouet
00229900 - - Single family F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229901 - - Single family with 3 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 3 Christian Drouet
00229902 - - Single family F no France - - - - - HAE1;HAE2 Proband with a HAE type I phenotype 1 2 Christian Drouet
00229903 - - Single family with 2 affected individuals F no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 2 Christian Drouet
00229904 - - Two independent pedigrees have been recorded to carry a c.-23-5G>A variant Family 1, France (n=2) Family 2 (n=1) - - France - - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype 1 3 Christian Drouet
00229905 - - Single family - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229906 - - Single family - no - - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype 1 1 Christian Drouet
00229907 - Journal: Grombirikova 2023 Three independent kindreds have been reported as carrying a c.-22-19_-22- 4del variant Family 1, France (n=2) Family 2, Poland with a de novo male proband Family 3, Czech Republic (n=2) - no France Poland - - - - HAE1;HAE2 Probands presenting with a HAE type I phenotype; two families 1 5 Christian Drouet
00229908 - - Proband presenting with a HAE type I phenotype; one family with 4 affected individuals - no France - - - - - HAE1;HAE2 Proband presenting with a HAE type I phenotype; family with 4 affected individuals 1 4 Christian Drouet
00229909 - - Single family - no Spain - - - - - HAE1;HAE2 proband presenting with a HAE type I phenotype 1 2 Christian Drouet
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