### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAD51) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "RAD51" "RAD51 homolog (S. cerevisiae)" "15" "q15.1" "unknown" "NG_012120.1" "UD_132085408002" "" "http://www.LOVD.nl/RAD51" "Fanconi anemia mutation databases homepage (Rockefeller University) " "1" "9817" "5888" "179617" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019)." "" "g" "http://databases.lovd.nl/shared/refseq/RAD51_codingDNA.html" "1" "" " A Fanconi anemia mutation database.
\r\n
\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-28 17:19:13" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017366" "RAD51" "transcript variant 1" "002" "NM_002875.4" "" "NP_002866.2" "" "" "" "-299" "2000" "1020" "40987327" "41024356" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00683" "cancer, breast" "cancer, breast, susceptibility" "" "114480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-30 17:21:12" "03674" "MRMV2" "mirror movements, type 2 (MRMV-2)" "AD" "614508" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "04300" "FANC" "Fanconi anemia (FANC)" "AD" "" "" "" "" "00006" "2015-07-19 11:40:38" "00006" "2021-12-10 21:51:32" "04304" "MRMV" "mirror movements (MRMV)" "" "" "" "" "" "00006" "2015-07-19 11:49:15" "" "" "04305" "FANCR" "Fanconi anemia, complementation group R (FANCR)" "AD" "617244" "" "" "" "00006" "2015-07-19 11:50:53" "00006" "2021-12-30 17:20:17" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "RAD51" "00683" "RAD51" "03674" "RAD51" "04304" "RAD51" "04305" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00016307" "" "" "" "1" "" "00075" "{PMID:Ameziane 2015:26681308}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "yes" "" "" "patient" "00047510" "" "" "" "1" "" "01372" "{PMID:Wang 2015:26253028}, {DOI:Wang 2015:10.1016/j.molcel.2015.07.009}" "" "F" "" "" "" "0" "" "" "" "" "00430899" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04457" "\r\n" "" "F" "no" "France" "" "0" "" "" "white" "827" "00430900" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04457" "" "" "F" "no" "France" "" "" "" "" "white" "1326" "00430901" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04457" "" "" "M" "no" "Denmark" "" "" "" "" "white" "1374" "00430984" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04457" "" "" "M" "no" "France" "" "0" "" "" "white" "984" "00430985" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04457" "" "" "F" "no" "France" "" "0" "" "" "white" "1386" "00430987" "" "" "" "1" "" "04457" "" "" "F" "no" "France" "" "" "" "" "white" "1043" "00431128" "" "" "" "9" "" "00006" "{PMID:Depienne 2012:22305526}" "5-generation family, 9 affected (3F, 6M)" "F;M" "" "France" "" "0" "" "" "" "FamA" "00431129" "" "" "" "1" "" "00006" "{PMID:Depienne 2012:22305526}" "2-generation family, 2 affected (mother/son)" "F;M" "" "Germany" "" "0" "" "" "" "FamB" "00431131" "" "" "" "11" "" "00006" "{PMID:Franz 2015:25813273}" "4-generation family, 11 affected (5F, 6M), 1 asymptomatic carrier" "F;M" "" "United States" "" "0" "" "" "" "FamA" "00431132" "" "" "" "1" "" "00006" "{PMID:Meneret 2014:24808016}" "2-generation family, 1 affected, unaffected carriers mother/brother" "F" "" "Italy" "" "0" "" "" "" "Fam3" "00431133" "" "" "" "1" "" "00006" "{PMID:Meneret 2014:24808016}" "2-generation family, affected female, unaffected heterozygous carrier mother" "F" "" "France" "" "0" "" "" "" "Fam16" "00431134" "" "" "" "1" "" "00006" "{PMID:Meneret 2014:24808016}" "2-generation family, affected son, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "Fam4" "00431135" "" "" "" "8" "" "00006" "{PMID:Trouillard 2016:27830107}" "4-generation family, 8 affected (4F, 4M), 4 mild" "M" "" "Norway" "" "0" "" "" "" "FamPat1" "00431136" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "daughter Pat8" "F" "" "Norway" "" "0" "" "" "" "FamPat2" "00431137" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "daughter Pat7" "F" "" "Norway" "" "0" "" "" "" "FamPat3" "00431138" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "son" "F" "" "Norway" "" "0" "" "" "" "FamPat4" "00431139" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "sister" "F" "" "Norway" "" "0" "" "" "" "FamPat5" "00431140" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "nephew" "M" "" "Norway" "" "0" "" "" "" "FamPat6" "00431141" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "nephew" "M" "" "Norway" "" "0" "" "" "" "FamPat7" "00431142" "" "" "00431135" "1" "" "00006" "{PMID:Trouillard 2016:27830107}" "nephew" "M" "" "Norway" "" "0" "" "" "" "FamPat8" "00432991" "" "" "" "1" "" "01082" "" "" "F" "" "Brazil" "" "0" "" "" "" "MINAS_18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00016307" "04300" "00047510" "04305" "00430899" "03674" "00430899" "04304" "00430900" "03674" "00430901" "03674" "00430984" "03674" "00430985" "03674" "00430987" "03674" "00431128" "04304" "00431129" "04304" "00431131" "04304" "00431132" "04304" "00431133" "04304" "00431134" "04304" "00431135" "04304" "00431136" "04304" "00431137" "04304" "00431138" "04304" "00431139" "04304" "00431140" "04304" "00431141" "04304" "00431142" "04304" "00432991" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00683, 03674, 04296, 04300, 04304, 04305 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034681" "04305" "00047510" "01372" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "0000034683" "04300" "00016307" "00075" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "Fanconi anemia" "" "0000321508" "03674" "00430899" "04457" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000321509" "03674" "00430900" "04457" "Familial, autosomal dominant" "44y" "" "" "" "" "" "" "" "" "" "" "" "0000321510" "03674" "00430901" "04457" "Unknown" "07y" "" "" "" "" "" "" "" "" "" "" "" "0000321593" "03674" "00430984" "04457" "Familial" "33y" "" "" "" "" "" "" "" "" "" "" "" "0000321596" "03674" "00430987" "04457" "Familial" "29y" "" "" "" "" "" "" "" "" "" "" "" "0000321737" "04304" "00431128" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321738" "04304" "00431129" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321740" "04304" "00431131" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321741" "04304" "00431132" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "MRMV1" "congenital mirror movements" "" "0000321742" "04304" "00431133" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321743" "04304" "00431134" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "congenital mirror movements" "" "0000321744" "04304" "00431135" "00006" "Familial, autosomal dominant" "59y" "Woods and Teuber MM severity scale 3 upper limbs; no assymetry; difficulties fine bimanual activities" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321745" "04304" "00431136" "00006" "Familial, autosomal dominant" "5y" "Woods and Teuber MM severity scale 3 upper limbs; no assymetry; difficulties fine bimanual activities" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321746" "04304" "00431137" "00006" "Familial, autosomal dominant" "3y" "Woods and Teuber MM severity scale 3 upper limbs, 1 lower limbs; no assymetry; difficulties fine bimanual activities" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321747" "04304" "00431138" "00006" "Familial, autosomal dominant" "22y" "Woods and Teuber MM severity scale 3 upper limbs, 1 lower limbs; no assymetry; difficulties fine bimanual activities" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321748" "04304" "00431139" "00006" "Familial, autosomal dominant" "70y" "Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; chronic fatigue; no functional disability" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321749" "04304" "00431140" "00006" "Familial, autosomal dominant" "45y" "Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; no functional disability" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321750" "04304" "00431141" "00006" "Familial, autosomal dominant" "44y" "Woods and Teuber MM severity scale 1 upper limbs; assymetry L>R; chromic upper limb pain" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000321751" "04304" "00431142" "00006" "Familial, autosomal dominant" "43y" "Woods and Teuber MM severity scale 1 upper limbs; assymetry R>L; no functional disability" "" "" "" "" "" "" "" "MRMV2" "congenital mirror movements" "" "0000323688" "04296" "00432991" "01082" "Familial, autosomal dominant" "" "Breast Cancer (HP:0003002)" "" "32y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016227" "00016307" "1" "00075" "00075" "2014-03-06 13:49:20" "" "" "SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA;protein" "Lympho-, fibro lines" "" "0000047618" "00047510" "1" "01372" "01372" "2015-08-24 03:16:08" "" "" "SEQ-NG" "DNA" "" "" "0000432310" "00430899" "1" "04457" "04457" "2023-01-25 11:36:29" "" "" "SEQ" "DNA" "" "" "0000432311" "00430900" "1" "04457" "04457" "2023-01-25 12:05:32" "" "" "SEQ" "DNA" "blood" "" "0000432312" "00430901" "1" "04457" "04457" "2023-01-25 12:15:50" "" "" "SEQ" "DNA" "blood" "" "0000432395" "00430984" "1" "04457" "04457" "2023-01-25 13:14:31" "" "" "SEQ" "DNA" "blood" "" "0000432396" "00430985" "1" "04457" "04457" "2023-01-25 13:23:03" "" "" "SEQ" "DNA" "blood" "" "0000432398" "00430987" "1" "04457" "04457" "2023-01-25 13:28:44" "" "" "SEQ" "DNA" "blood" "" "0000432539" "00431128" "1" "00006" "00006" "2023-01-27 19:58:36" "" "" "SEQ" "DNA" "" "" "0000432540" "00431129" "1" "00006" "00006" "2023-01-28 09:15:50" "" "" "SEQ" "DNA" "" "" "0000432542" "00431131" "1" "00006" "00006" "2023-01-28 17:42:09" "" "" "SEQ" "DNA" "" "" "0000432543" "00431132" "1" "00006" "00006" "2023-01-28 17:46:55" "00006" "2023-01-28 17:57:53" "SEQ" "DNA" "" "" "0000432544" "00431133" "1" "00006" "00006" "2023-01-29 14:45:38" "" "" "SEQ" "DNA" "" "" "0000432545" "00431134" "1" "00006" "00006" "2023-01-29 14:51:59" "00006" "2023-01-29 14:54:32" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000432546" "00431135" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432547" "00431136" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432548" "00431137" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432549" "00431138" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432550" "00431139" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432551" "00431140" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432552" "00431141" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000432553" "00431142" "1" "00006" "00006" "2023-01-29 15:02:09" "" "" "SEQ" "DNA" "" "" "0000434587" "00432991" "1" "01082" "01082" "2023-02-28 20:49:29" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000016227" "RAD51" "0000432310" "RAD51" "0000432311" "RAD51" "0000432312" "RAD51" "0000432395" "RAD51" "0000432396" "RAD51" "0000432398" "RAD51" "0000432539" "RAD51" "0000432540" "RAD51" "0000432542" "RAD51" "0000432543" "RAD51" "0000432544" "RAD51" "0000432545" "RAD51" "0000432546" "RAD51" "0000432547" "RAD51" "0000432548" "RAD51" "0000432549" "RAD51" "0000432550" "RAD51" "0000432551" "RAD51" "0000432552" "RAD51" "0000432553" "RAD51" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 30 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000035953" "20" "70" "15" "41022153" "41022153" "subst" "0" "00075" "RAD51_000001" "g.41022153G>A" "" "{PMID:Ameziane 2015:26681308}" "" "" "yeast (c.351A>T)" "De novo" "" "" "0" "" "" "g.40729955G>A" "" "likely pathogenic" "" "0000076362" "0" "90" "15" "41001270" "41001270" "subst" "0" "01372" "RAD51_000002" "g.41001270A>C" "" "{PMID:Wang 2015:26253028}, {DOI:Wang 2015:10.1016/j.molcel.2015.07.009}" "" "" "dominant negative" "De novo" "" "" "0" "" "" "g.40709072A>C" "" "pathogenic" "" "0000554178" "0" "30" "15" "40993318" "40993318" "subst" "0.000105583" "01943" "RAD51_000003" "g.40993318T>C" "" "" "" "RAD51(NM_133487.3):c.144T>C (p.T48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40701120T>C" "" "likely benign" "" "0000554179" "0" "50" "15" "40993338" "40993338" "subst" "0.000125895" "01943" "RAD51_000004" "g.40993338C>T" "" "" "" "RAD51(NM_133487.3):c.164C>T (p.A55V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40701140C>T" "" "VUS" "" "0000917718" "0" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "04457" "RAD51_000011" "g.41021818C>T" "" "" "" "" "" "Germline" "yes" "rs199925463" "0" "" "" "g.40729620C>T" "29868" "pathogenic" "ACMG" "0000917719" "21" "90" "15" "41023310" "41023311" "del" "0" "04457" "RAD51_000010" "g.41023310_41023311del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.40731112_40731113del" "" "pathogenic" "ACMG" "0000917720" "21" "90" "15" "41021833" "41021833" "subst" "0" "04457" "RAD51_000009" "g.41021833G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.40729635G>C" "" "pathogenic" "ACMG" "0000917855" "11" "90" "15" "41022152" "41022152" "subst" "0" "04457" "RAD51_000006" "g.41022152C>T" "" "" "" "" "" "Germline" "" "rs1436486146" "0" "" "" "g.40729954C>T" "" "VUS (!)" "ACMG" "0000917856" "21" "90" "15" "41021807" "41021807" "subst" "0" "04457" "RAD51_000007" "g.41021807G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.40729609G>A" "471141" "likely pathogenic" "ACMG" "0000917859" "11" "90" "15" "40998410" "40998415" "del" "0" "04457" "RAD51_000008" "g.40998410_40998415del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.40706212_40706217del" "" "likely pathogenic" "ACMG" "0000918055" "1" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Depienne 2012:22305526}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40729620C>T" "" "pathogenic (dominant)" "" "0000918064" "21" "90" "15" "41022131" "41022131" "dup" "0" "00006" "RAD51_000012" "g.41022131dup" "" "{PMID:Depienne 2012:22305526}" "" "" "" "Germline" "" "" "0" "" "" "g.40729933dup" "" "pathogenic (dominant)" "" "0000918067" "1" "90" "15" "41021807" "41021807" "subst" "0" "00006" "RAD51_000007" "g.41021807G>A" "" "{PMID:Franz 2015:25813273}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40729609G>A" "" "pathogenic (dominant)" "" "0000918068" "0" "70" "15" "40993314" "40993314" "subst" "4.06101E-6" "00006" "RAD51_000013" "g.40993314A>G" "" "{PMID:Meneret 2014:24808016}" "" "" "reduced penetrance (unaffected mother/brother)" "Germline" "" "" "0" "" "" "g.40701116A>G" "" "likely pathogenic (!)" "" "0000918070" "21" "90" "15" "41001285" "41001285" "subst" "0" "00006" "RAD51_000014" "g.41001285A>T" "" "{PMID:Meneret 2014:24808016}" "" "409A>T (Ile137Phe)" "reduced penetrance (unaffected carrier mother)" "Germline" "" "" "0" "" "" "g.40709087A>T" "" "pathogenic (!)" "" "0000918072" "11" "30" "15" "41022046" "41022046" "subst" "2.43633E-5" "00006" "RAD51_000015" "g.41022046A>G" "" "{PMID:Meneret 2014:24808016}" "" "778-5A>G" "" "Germline" "" "" "0" "" "" "g.40729848A>G" "" "likely benign" "" "0000918073" "1" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918074" "11" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918075" "11" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918076" "10" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918077" "1" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918078" "21" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918079" "21" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000918080" "21" "90" "15" "41021818" "41021818" "subst" "4.06065E-6" "00006" "RAD51_000011" "g.41021818C>T" "" "{PMID:Trouillard 2016:27830107}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.40729620C>T" "" "pathogenic (!)" "" "0000921765" "0" "90" "15" "41011016" "41011016" "subst" "0.000353277" "01082" "RAD51_000016" "g.41011016G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40718818G>A" "13127" "pathogenic (dominant)" "ACMG" "0001001355" "0" "30" "15" "40991036" "40991036" "subst" "1.2183E-5" "01804" "RAD51_000017" "g.40991036G>A" "" "" "" "RAD51(NM_002875.4):c.80G>A (p.(Arg27Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001356" "0" "30" "15" "41021785" "41021785" "subst" "0" "01804" "RAD51_000018" "g.41021785A>G" "" "" "" "RAD51(NM_002875.4):c.727A>G (p.(Met243Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001357" "0" "50" "15" "41021831" "41021831" "subst" "2.03031E-5" "01804" "RAD51_000019" "g.41021831A>C" "" "" "" "RAD51(NM_002875.4):c.773A>C (p.(Glu258Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026430" "0" "30" "15" "40990936" "40990936" "subst" "0.000520033" "02329" "RAD51_000020" "g.40990936A>G" "" "" "" "RAD51(NM_002875.5):c.-2-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040322" "0" "50" "15" "40994124" "40994125" "ins" "0" "01804" "RAD51_000021" "g.40994124_40994125insA" "" "" "" "RAD51(NM_001164269.2):c.346_346+1insA (p.(Gly116Glufs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RAD51 ## Count = 30 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000035953" "00017366" "70" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Ala293Thr)" "9" "0000076362" "00017366" "90" "391" "0" "391" "0" "c.391A>C" "r.(?)" "p.(Thr131Pro)" "5" "0000554178" "00017366" "30" "144" "0" "144" "0" "c.144T>C" "r.(?)" "p.(Thr48=)" "" "0000554179" "00017366" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ala55Val)" "" "0000917718" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "8" "0000917719" "00017366" "90" "954" "0" "955" "0" "c.954_955del" "r.(?)" "p.(Cys319Serfs*3)" "10" "0000917720" "00017366" "90" "774" "1" "774" "1" "c.774+1G>C" "r.(645_774del)" "p.(Arg215Serfs*4)" "8i" "0000917855" "00017366" "90" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Ile292=)" "9" "0000917856" "00017366" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "8" "0000917859" "00017366" "90" "261" "0" "266" "0" "c.261_266del" "r.(?)" "p.(Ala89_Thr90del)" "4" "0000918055" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254*)" "8" "0000918064" "00017366" "90" "855" "0" "855" "0" "c.855dup" "r.(?)" "p.(Pro286Thrfs*37)" "" "0000918067" "00017366" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000918068" "00017366" "70" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(His47Arg)" "" "0000918070" "00017366" "90" "406" "0" "406" "0" "c.406A>T" "r.(?)" "p.(Ile136Phe)" "" "0000918072" "00017366" "30" "775" "-5" "775" "-5" "c.775-5A>G" "r.=" "p.=" "" "0000918073" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918074" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918075" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918076" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918077" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918078" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918079" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Ter)" "" "0000918080" "00017366" "90" "760" "0" "760" "0" "c.760C>T" "r.spl" "p.(Arg254Ter)" "" "0000921765" "00017366" "90" "449" "0" "449" "0" "c.449G>A" "r.?" "p.(Arg150Gln)" "" "0001001355" "00017366" "30" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27Gln)" "" "0001001356" "00017366" "30" "727" "0" "727" "0" "c.727A>G" "r.(?)" "p.(Met243Val)" "" "0001001357" "00017366" "50" "773" "0" "773" "0" "c.773A>C" "r.(?)" "p.(Glu258Ala)" "" "0001026430" "00017366" "30" "-2" "-19" "-2" "-19" "c.-2-19A>G" "r.(=)" "p.(=)" "" "0001040322" "00017366" "50" "225" "725" "225" "726" "c.225+725_225+726insA" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000016227" "0000035953" "0000047618" "0000076362" "0000432310" "0000917718" "0000432311" "0000917719" "0000432312" "0000917720" "0000432395" "0000917855" "0000432396" "0000917856" "0000432398" "0000917859" "0000432539" "0000918055" "0000432540" "0000918064" "0000432542" "0000918067" "0000432543" "0000918068" "0000432544" "0000918070" "0000432545" "0000918072" "0000432546" "0000918073" "0000432547" "0000918074" "0000432548" "0000918075" "0000432549" "0000918076" "0000432550" "0000918077" "0000432551" "0000918078" "0000432552" "0000918079" "0000432553" "0000918080" "0000434587" "0000921765"