### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNFRSF11A) # 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}}" "TNFRSF11A" "tumor necrosis factor receptor superfamily, member 11a, NFKB activator" "18" "q22.1" "unknown" "NG_008098.1" "UD_136020023291" "" "https://www.LOVD.nl/TNFRSF11A" "" "1" "11908" "8792" "603499" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/TNFRSF11A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-22 10:11:22" "00006" "2025-05-05 10:30:11" ## 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}}" "00025605" "TNFRSF11A" "transcript variant 1" "001" "NM_003839.3" "" "NP_003830.1" "" "" "" "-66" "4527" "1851" "59992520" "60054943" "00006" "2021-03-22 10:13:45" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01514" "FEO" "osteolysis, familial expansile (FEO, McCabe disease)" "AD" "174810" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02411" "PDB2" "Paget disease of bone, type 2, early-onset (PDB-2)" "AD" "602080" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03117" "OPTB7" "osteopetrosis, autosomal recessive, type 7 (OPTB-7)" "AR" "612301" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TNFRSF11A" "01514" "TNFRSF11A" "02411" "TNFRSF11A" "03117" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00359411" "" "" "" "1" "" "03149" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "F" "?" "Brazil" "" "0" "" "" "" "Pat55" "00408098" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "169" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050538" "00198" "00359411" "03117" "00408098" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01514, 02411, 03117, 04214 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000300226" "04214" "00408098" "00000" "Familial, autosomal recessive" "1y6m" "1.5 year old boy with an uncomplicated perinatal course. At the age of 2 months, he was noticed to have plugging anterior fontanel. Brain MRI showed subdural hygroma with enlarger subarachnoid space, and he was diagnosed with external hydrocephalus that required taping twice. In addition, he had developmental delay, bilateral optic atrophy, epilepsy, short stature, failure to thrive, and distinctive facial features (prominent forehead, small nose, and micro-retrognathia). Skeletal survey at the age of 2 months showed diffuse sclerosis of the all the axial and peripheral skeleton with loss of corticomedullary differentiation consistent with osteopetrosis. His parents were cousins, and he was the first child for them." "" "" "" "" "" "" "" "" "Osteopetrosis, autosomal recessive 7" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000360653" "00359411" "1" "03149" "03149" "2021-03-20 18:59:51" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000409353" "00408098" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000409353" "TNFRSF11A" ## 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 = 65 "{{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}}" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000248708" "0" "10" "18" "60036083" "60036083" "subst" "0.957716" "02325" "TNFRSF11A_000017" "g.60036083A>G" "" "" "" "TNFRSF11A(NM_003839.4):c.933A>G (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62368850A>G" "" "benign" "" "0000251927" "0" "30" "18" "60052034" "60052034" "subst" "0.00067786" "02326" "TNFRSF11A_000016" "g.60052034A>G" "" "" "" "TNFRSF11A(NM_001278268.1):c.1576A>G (p.M526V), TNFRSF11A(NM_003839.2):c.1618A>G (p.M540V), TNFRSF11A(NM_003839.4):c.1618A>G (p.M540V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62384801A>G" "" "likely benign" "" "0000311912" "0" "10" "18" "60025473" "60025473" "del" "0" "02325" "TNFRSF11A_000010" "g.60025473del" "" "" "" "TNFRSF11A(NM_003839.2):c.428-8delT, TNFRSF11A(NM_003839.4):c.428-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62358240del" "" "benign" "" "0000311913" "0" "10" "18" "60027171" "60027171" "subst" "0.543716" "02325" "TNFRSF11A_000011" "g.60027171C>T" "" "" "" "TNFRSF11A(NM_003839.4):c.522-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62359938C>T" "" "benign" "" "0000311914" "0" "10" "18" "60027241" "60027241" "subst" "0.543335" "02325" "TNFRSF11A_000013" "g.60027241C>T" "" "" "" "TNFRSF11A(NM_003839.4):c.575C>T (p.A192V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62360008C>T" "" "benign" "" "0000314614" "0" "30" "18" "60036665" "60036665" "subst" "4.19801E-5" "02326" "TNFRSF11A_000014" "g.60036665G>A" "" "" "" "TNFRSF11A(NM_003839.2):c.1515G>A (p.A505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62369432G>A" "" "likely benign" "" "0000314615" "0" "30" "18" "60036669" "60036669" "subst" "0.00637422" "02326" "TNFRSF11A_000015" "g.60036669G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1477G>A (p.(Ala493Thr)), TNFRSF11A(NM_003839.2):c.1519G>A (p.A507T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62369436G>A" "" "likely benign" "" "0000314616" "0" "30" "18" "60017011" "60017011" "subst" "0" "02326" "TNFRSF11A_000002" "g.60017011T>G" "" "" "" "TNFRSF11A(NM_003839.2):c.158-34T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62349778T>G" "" "likely benign" "" "0000314617" "0" "10" "18" "60021619" "60021619" "subst" "0.000388971" "02326" "TNFRSF11A_000003" "g.60021619C>T" "" "" "" "TNFRSF11A(NM_001278268.2):c.284-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62354386C>T" "" "benign" "" "0000314618" "0" "30" "18" "60021667" "60021667" "subst" "0.00543096" "02326" "TNFRSF11A_000004" "g.60021667C>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.327C>T (p.P109=), TNFRSF11A(NM_003839.2):c.327C>T (p.P109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62354434C>T" "" "likely benign" "" "0000314619" "0" "30" "18" "60025473" "60025473" "del" "0" "02326" "TNFRSF11A_000008" "g.60025473del" "" "" "" "TNFRSF11A(NM_003839.2):c.428-8delT, TNFRSF11A(NM_003839.4):c.428-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62358240del" "" "likely benign" "" "0000314620" "0" "30" "18" "60025472" "60025473" "del" "0" "02326" "TNFRSF11A_000007" "g.60025472_60025473del" "" "" "" "TNFRSF11A(NM_003839.2):c.428-9_428-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62358239_62358240del" "" "likely benign" "" "0000314623" "0" "10" "18" "60025472" "60025472" "subst" "0" "02326" "TNFRSF11A_000009" "g.60025472T>C" "" "" "" "TNFRSF11A(NM_003839.2):c.428-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62358239T>C" "" "benign" "" "0000314624" "0" "10" "18" "60027236" "60027236" "subst" "0.00319984" "02326" "TNFRSF11A_000012" "g.60027236C>T" "" "" "" "TNFRSF11A(NM_001278268.2):c.528C>T (p.S176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62360003C>T" "" "benign" "" "0000316800" "0" "30" "18" "60021667" "60021667" "subst" "0.00543096" "01943" "TNFRSF11A_000004" "g.60021667C>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.327C>T (p.P109=), TNFRSF11A(NM_003839.2):c.327C>T (p.P109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62354434C>T" "" "likely benign" "" "0000325940" "0" "30" "18" "59992665" "59992665" "subst" "0.0219796" "01804" "TNFRSF11A_000001" "g.59992665G>A" "" "" "" "TNFRSF11A(NM_001270949.1):c.75+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62325432G>A" "" "likely benign" "" "0000347859" "0" "50" "18" "60052034" "60052034" "subst" "0.00067786" "02327" "TNFRSF11A_000016" "g.60052034A>G" "" "" "" "TNFRSF11A(NM_001278268.1):c.1576A>G (p.M526V), TNFRSF11A(NM_003839.2):c.1618A>G (p.M540V), TNFRSF11A(NM_003839.4):c.1618A>G (p.M540V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62384801A>G" "" "VUS" "" "0000565225" "0" "50" "18" "60021619" "60021619" "subst" "0" "01943" "TNFRSF11A_000018" "g.60021619C>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.284-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62354386C>A" "" "VUS" "" "0000565226" "0" "50" "18" "60029014" "60029014" "subst" "0.00107201" "01943" "TNFRSF11A_000019" "g.60029014A>G" "" "" "" "TNFRSF11A(NM_001270949.1):c.718A>G (p.(Lys240Glu)), TNFRSF11A(NM_001278268.1):c.676A>G (p.K226E), TNFRSF11A(NM_001278268.2):c.676A>G (p.K226E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62361781A>G" "" "VUS" "" "0000565227" "0" "30" "18" "60029014" "60029014" "subst" "0.00107201" "02326" "TNFRSF11A_000019" "g.60029014A>G" "" "" "" "TNFRSF11A(NM_001270949.1):c.718A>G (p.(Lys240Glu)), TNFRSF11A(NM_001278268.1):c.676A>G (p.K226E), TNFRSF11A(NM_001278268.2):c.676A>G (p.K226E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62361781A>G" "" "likely benign" "" "0000565228" "0" "30" "18" "60033958" "60033958" "subst" "0" "01943" "TNFRSF11A_000020" "g.60033958A>G" "" "" "" "TNFRSF11A(NM_001278268.1):c.706A>G (p.I236V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62366725A>G" "" "likely benign" "" "0000565229" "0" "30" "18" "60036136" "60036136" "subst" "0" "01804" "TNFRSF11A_000021" "g.60036136T>C" "" "" "" "TNFRSF11A(NM_003839.3):c.986T>C (p.(Leu329Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62368903T>C" "" "likely benign" "" "0000565230" "0" "50" "18" "60036429" "60036429" "subst" "0.000801797" "01943" "TNFRSF11A_000022" "g.60036429G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1237G>A (p.D413N), TNFRSF11A(NM_003839.2):c.1279G>A (p.D427N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62369196G>A" "" "VUS" "" "0000565231" "0" "30" "18" "60036498" "60036498" "subst" "0.000647706" "02326" "TNFRSF11A_000023" "g.60036498C>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.1306C>T (p.R436W), TNFRSF11A(NM_001278268.2):c.1306C>T (p.R436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62369265C>T" "" "likely benign" "" "0000565233" "0" "50" "18" "60052034" "60052034" "subst" "0.00067786" "01943" "TNFRSF11A_000016" "g.60052034A>G" "" "" "" "TNFRSF11A(NM_001278268.1):c.1576A>G (p.M526V), TNFRSF11A(NM_003839.2):c.1618A>G (p.M540V), TNFRSF11A(NM_003839.4):c.1618A>G (p.M540V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62384801A>G" "" "VUS" "" "0000565234" "0" "30" "18" "60052119" "60052119" "subst" "0.000256266" "01943" "TNFRSF11A_000025" "g.60052119G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1661G>A (p.R554H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62384886G>A" "" "likely benign" "" "0000565235" "0" "50" "18" "60052151" "60052151" "subst" "0" "02325" "TNFRSF11A_000026" "g.60052151G>T" "" "" "" "TNFRSF11A(NM_001278268.2):c.1693G>T (p.D565Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62384918G>T" "" "VUS" "" "0000565236" "0" "30" "18" "60052192" "60052192" "subst" "0.000228702" "02326" "TNFRSF11A_000027" "g.60052192C>T" "" "" "" "TNFRSF11A(NM_001278268.2):c.1734C>T (p.C578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62384959C>T" "" "likely benign" "" "0000617228" "0" "50" "18" "60028929" "60028929" "subst" "0" "02325" "TNFRSF11A_000028" "g.60028929G>T" "" "" "" "TNFRSF11A(NM_001278268.2):c.591G>T (p.L197F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62361696G>T" "" "VUS" "" "0000617229" "0" "30" "18" "60036009" "60036009" "subst" "4.06095E-6" "01943" "TNFRSF11A_000030" "g.60036009C>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.817C>T (p.L273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62368776C>T" "" "likely benign" "" "0000617230" "0" "30" "18" "60036567" "60036567" "subst" "1.6756E-5" "01943" "TNFRSF11A_000031" "g.60036567G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1375G>A (p.A459T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62369334G>A" "" "likely benign" "" "0000623879" "0" "30" "18" "60035978" "60035978" "subst" "4.06138E-6" "02326" "TNFRSF11A_000029" "g.60035978T>C" "" "" "" "TNFRSF11A(NM_001278268.2):c.786T>C (p.F262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62368745T>C" "" "likely benign" "" "0000623880" "0" "30" "18" "60036629" "60036629" "subst" "4.1812E-5" "01943" "TNFRSF11A_000032" "g.60036629C>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.1437C>T (p.P479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62369396C>T" "" "likely benign" "" "0000658424" "0" "30" "18" "60052179" "60052179" "subst" "1.70056E-5" "02326" "TNFRSF11A_000033" "g.60052179T>C" "" "" "" "TNFRSF11A(NM_001278268.2):c.1721T>C (p.F574S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62384946T>C" "" "likely benign" "" "0000681193" "0" "30" "18" "60052231" "60052231" "subst" "0" "02326" "TNFRSF11A_000034" "g.60052231G>A" "" "" "" "TNFRSF11A(NM_001278268.2):c.1773G>A (p.S591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692622" "0" "30" "18" "60036498" "60036498" "subst" "0.000647706" "01943" "TNFRSF11A_000023" "g.60036498C>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.1306C>T (p.R436W), TNFRSF11A(NM_001278268.2):c.1306C>T (p.R436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760713" "3" "90" "18" "60036521" "60036522" "del" "0" "03149" "TNFRSF11A_000035" "g.60036521_60036522del" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PP4, PVS1, PM2" "Germline" "" "" "0" "" "" "g.62369288_62369289del" "" "pathogenic (recessive)" "ACMG" "0000808558" "0" "30" "18" "60015427" "60015427" "subst" "4.06075E-6" "01943" "TNFRSF11A_000036" "g.60015427T>C" "" "" "" "TNFRSF11A(NM_001278268.1):c.102T>C (p.C34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808559" "0" "30" "18" "60015434" "60015434" "subst" "2.84248E-5" "01804" "TNFRSF11A_000037" "g.60015434G>A" "" "" "" "TNFRSF11A(NM_001270949.1):c.109G>A (p.(Glu37Lys)), TNFRSF11A(NM_001278268.1):c.109G>A (p.E37K), TNFRSF11A(NM_003839.2):c.109G>A (p.E37K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808560" "0" "30" "18" "60025461" "60025461" "subst" "0" "02326" "TNFRSF11A_000038" "g.60025461T>G" "" "" "" "TNFRSF11A(NM_003839.2):c.428-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808561" "0" "30" "18" "60036547" "60036547" "subst" "0.00250493" "01804" "TNFRSF11A_000039" "g.60036547G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1355G>A (p.(Arg452His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808562" "0" "50" "18" "60052034" "60052034" "subst" "0.00067786" "02325" "TNFRSF11A_000016" "g.60052034A>G" "" "" "" "TNFRSF11A(NM_001278268.1):c.1576A>G (p.M526V), TNFRSF11A(NM_003839.2):c.1618A>G (p.M540V), TNFRSF11A(NM_003839.4):c.1618A>G (p.M540V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000846507" "3" "70" "18" "60021740" "60021740" "subst" "0" "00000" "TNFRSF11A_000040" "g.60021740G>A" "" "{PMID:Alabdullatif 2017:27717089}" "" "TNFRSF11A c.400G>A, (p.Ala134Thr)" "homozygous" "Germline" "yes" "" "0" "" "" "g.62354507G>A" "" "likely pathogenic" "" "0000855350" "0" "50" "18" "60015434" "60015434" "subst" "2.84248E-5" "01943" "TNFRSF11A_000037" "g.60015434G>A" "" "" "" "TNFRSF11A(NM_001270949.1):c.109G>A (p.(Glu37Lys)), TNFRSF11A(NM_001278268.1):c.109G>A (p.E37K), TNFRSF11A(NM_003839.2):c.109G>A (p.E37K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855351" "0" "30" "18" "60036105" "60036105" "subst" "0" "01804" "TNFRSF11A_000042" "g.60036105G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.913G>A (p.(Ala305Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865741" "0" "30" "18" "60027209" "60027209" "subst" "0.000190847" "02326" "TNFRSF11A_000041" "g.60027209A>T" "" "" "" "TNFRSF11A(NM_003839.2):c.543A>T (p.R181S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865742" "0" "50" "18" "60029014" "60029014" "subst" "0.00107201" "01804" "TNFRSF11A_000019" "g.60029014A>G" "" "" "" "TNFRSF11A(NM_001270949.1):c.718A>G (p.(Lys240Glu)), TNFRSF11A(NM_001278268.1):c.676A>G (p.K226E), TNFRSF11A(NM_001278268.2):c.676A>G (p.K226E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865743" "0" "30" "18" "60036669" "60036669" "subst" "0.00637422" "01804" "TNFRSF11A_000015" "g.60036669G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1477G>A (p.(Ala493Thr)), TNFRSF11A(NM_003839.2):c.1519G>A (p.A507T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865744" "0" "50" "18" "60052112" "60052112" "subst" "0.000111926" "01943" "TNFRSF11A_000043" "g.60052112A>T" "" "" "" "TNFRSF11A(NM_001278268.1):c.1654A>T (p.M552L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865745" "0" "50" "18" "60052182" "60052182" "subst" "0.000132933" "01943" "TNFRSF11A_000044" "g.60052182C>G" "" "" "" "TNFRSF11A(NM_001278268.1):c.1724C>G (p.P575R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894620" "0" "10" "18" "59992665" "59992665" "subst" "0.0219796" "02327" "TNFRSF11A_000001" "g.59992665G>A" "" "" "" "TNFRSF11A(NM_001270949.1):c.75+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894621" "0" "30" "18" "60028932" "60028932" "subst" "0.000434479" "02326" "TNFRSF11A_000045" "g.60028932C>T" "" "" "" "TNFRSF11A(NM_003839.2):c.636C>T (p.P212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894622" "0" "30" "18" "60036429" "60036429" "subst" "0.000801797" "02326" "TNFRSF11A_000022" "g.60036429G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1237G>A (p.D413N), TNFRSF11A(NM_003839.2):c.1279G>A (p.D427N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894623" "0" "10" "18" "60036531" "60036531" "subst" "0.00153123" "01804" "TNFRSF11A_000046" "g.60036531G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1339G>A (p.(Val447Met)), TNFRSF11A(NM_003839.2):c.1381G>A (p.V461M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894624" "0" "30" "18" "60036531" "60036531" "subst" "0.00153123" "02326" "TNFRSF11A_000046" "g.60036531G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1339G>A (p.(Val447Met)), TNFRSF11A(NM_003839.2):c.1381G>A (p.V461M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926770" "0" "30" "18" "60015434" "60015434" "subst" "2.84248E-5" "02326" "TNFRSF11A_000037" "g.60015434G>A" "" "" "" "TNFRSF11A(NM_001270949.1):c.109G>A (p.(Glu37Lys)), TNFRSF11A(NM_001278268.1):c.109G>A (p.E37K), TNFRSF11A(NM_003839.2):c.109G>A (p.E37K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926771" "0" "30" "18" "60017178" "60017178" "subst" "4.46951E-5" "02326" "TNFRSF11A_000047" "g.60017178C>T" "" "" "" "TNFRSF11A(NM_003839.2):c.283+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930975" "0" "30" "18" "60029031" "60029031" "subst" "4.06072E-6" "02326" "TNFRSF11A_000048" "g.60029031T>C" "" "" "" "TNFRSF11A(NM_003839.2):c.730+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930976" "0" "30" "18" "60036724" "60036724" "subst" "0.000327318" "01804" "TNFRSF11A_000049" "g.60036724G>A" "" "" "" "TNFRSF11A(NM_001278268.1):c.1525+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983100" "0" "10" "18" "60025473" "60025473" "dup" "0" "02326" "TNFRSF11A_000050" "g.60025473dup" "" "" "" "TNFRSF11A(NM_003839.2):c.428-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983101" "0" "50" "18" "60052220" "60052220" "subst" "0" "01804" "TNFRSF11A_000051" "g.60052220G>C" "" "" "" "TNFRSF11A(NM_003839.4):c.1804G>C (p.(Glu602Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011841" "0" "90" "18" "60021670" "60021670" "del" "0" "03779" "TNFRSF11A_000053" "g.60021670del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001011842" "0" "90" "18" "60021668" "60021668" "dup" "0" "03779" "TNFRSF11A_000052" "g.60021668dup" "" "" "" "" "" "CLASSIFICATION record" "" "rs2145308907" "0" "" "" "" "" "pathogenic" "" "0001027141" "0" "50" "18" "60052099" "60052101" "dup" "0" "02325" "TNFRSF11A_000054" "g.60052099_60052101dup" "" "" "" "TNFRSF11A(NM_003839.4):c.1683_1685dupGGC (p.A563dup)" "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 TNFRSF11A ## Count = 65 "{{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}}" "0000079672" "00025605" "90" "-8388608" "0" "8388607" "0" "c.-11629922_*17962913del" "r.0?" "p.0?" "" "0000248708" "00025605" "10" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Thr311=)" "" "0000251927" "00025605" "30" "1618" "0" "1618" "0" "c.1618A>G" "r.(?)" "p.(Met540Val)" "" "0000311912" "00025605" "10" "428" "-8" "428" "-8" "c.428-8del" "r.(=)" "p.(=)" "" "0000311913" "00025605" "10" "522" "-17" "522" "-17" "c.522-17C>T" "r.(=)" "p.(=)" "" "0000311914" "00025605" "10" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" "0000314614" "00025605" "30" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Ala505=)" "" "0000314615" "00025605" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Ala507Thr)" "" "0000314616" "00025605" "30" "158" "-34" "158" "-34" "c.158-34T>G" "r.(=)" "p.(=)" "" "0000314617" "00025605" "10" "284" "-5" "284" "-5" "c.284-5C>T" "r.spl?" "p.?" "" "0000314618" "00025605" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Pro109=)" "" "0000314619" "00025605" "30" "428" "-8" "428" "-8" "c.428-8del" "r.(=)" "p.(=)" "" "0000314620" "00025605" "30" "428" "-9" "428" "-8" "c.428-9_428-8del" "r.(=)" "p.(=)" "" "0000314623" "00025605" "10" "428" "-9" "428" "-9" "c.428-9T>C" "r.(=)" "p.(=)" "" "0000314624" "00025605" "10" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Ser190=)" "" "0000316800" "00025605" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Pro109=)" "" "0000325940" "00025605" "30" "75" "5" "75" "5" "c.75+5G>A" "r.spl?" "p.?" "" "0000347859" "00025605" "50" "1618" "0" "1618" "0" "c.1618A>G" "r.(?)" "p.(Met540Val)" "" "0000565225" "00025605" "50" "284" "-5" "284" "-5" "c.284-5C>A" "r.spl?" "p.?" "" "0000565226" "00025605" "50" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Lys240Glu)" "" "0000565227" "00025605" "30" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Lys240Glu)" "" "0000565228" "00025605" "30" "748" "0" "748" "0" "c.748A>G" "r.(?)" "p.(Ile250Val)" "" "0000565229" "00025605" "30" "986" "0" "986" "0" "c.986T>C" "r.(?)" "p.(Leu329Ser)" "" "0000565230" "00025605" "50" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Asp427Asn)" "" "0000565231" "00025605" "30" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Trp)" "" "0000565233" "00025605" "50" "1618" "0" "1618" "0" "c.1618A>G" "r.(?)" "p.(Met540Val)" "" "0000565234" "00025605" "30" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568His)" "" "0000565235" "00025605" "50" "1735" "0" "1735" "0" "c.1735G>T" "r.(?)" "p.(Asp579Tyr)" "" "0000565236" "00025605" "30" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Cys592=)" "" "0000617228" "00025605" "50" "633" "0" "633" "0" "c.633G>T" "r.(?)" "p.(Leu211Phe)" "" "0000617229" "00025605" "30" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Leu287=)" "" "0000617230" "00025605" "30" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Ala473Thr)" "" "0000623879" "00025605" "30" "828" "0" "828" "0" "c.828T>C" "r.(?)" "p.(Phe276=)" "" "0000623880" "00025605" "30" "1479" "0" "1479" "0" "c.1479C>T" "r.(?)" "p.(Pro493=)" "" "0000658424" "00025605" "30" "1763" "0" "1763" "0" "c.1763T>C" "r.(?)" "p.(Phe588Ser)" "" "0000681193" "00025605" "30" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Ser605=)" "" "0000692622" "00025605" "30" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Trp)" "" "0000760713" "00025605" "90" "1371" "0" "1372" "0" "c.1371_1372del" "r.(?)" "p.(Cys457*)" "" "0000808558" "00025605" "30" "102" "0" "102" "0" "c.102T>C" "r.(?)" "p.(Cys34=)" "" "0000808559" "00025605" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "" "0000808560" "00025605" "30" "428" "-20" "428" "-20" "c.428-20T>G" "r.(=)" "p.(=)" "" "0000808561" "00025605" "30" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Arg466His)" "" "0000808562" "00025605" "50" "1618" "0" "1618" "0" "c.1618A>G" "r.(?)" "p.(Met540Val)" "" "0000846507" "00025605" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "" "0000855350" "00025605" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "" "0000855351" "00025605" "30" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "" "0000865741" "00025605" "30" "543" "0" "543" "0" "c.543A>T" "r.(?)" "p.(Arg181Ser)" "" "0000865742" "00025605" "50" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.(Lys240Glu)" "" "0000865743" "00025605" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Ala507Thr)" "" "0000865744" "00025605" "50" "1696" "0" "1696" "0" "c.1696A>T" "r.(?)" "p.(Met566Leu)" "" "0000865745" "00025605" "50" "1766" "0" "1766" "0" "c.1766C>G" "r.(?)" "p.(Pro589Arg)" "" "0000894620" "00025605" "10" "75" "5" "75" "5" "c.75+5G>A" "r.spl?" "p.?" "" "0000894621" "00025605" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Pro212=)" "" "0000894622" "00025605" "30" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Asp427Asn)" "" "0000894623" "00025605" "10" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Val461Met)" "" "0000894624" "00025605" "30" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Val461Met)" "" "0000926770" "00025605" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Glu37Lys)" "" "0000926771" "00025605" "30" "283" "8" "283" "8" "c.283+8C>T" "r.(=)" "p.(=)" "" "0000930975" "00025605" "30" "730" "5" "730" "5" "c.730+5T>C" "r.spl?" "p.?" "" "0000930976" "00025605" "30" "1567" "7" "1567" "7" "c.1567+7G>A" "r.(=)" "p.(=)" "" "0000983100" "00025605" "10" "428" "-8" "428" "-8" "c.428-8dup" "r.(=)" "p.(=)" "" "0000983101" "00025605" "50" "1804" "0" "1804" "0" "c.1804G>C" "r.(?)" "p.(Glu602Gln)" "" "0001011841" "00025605" "90" "330" "0" "330" "0" "c.330del" "r.(?)" "p.(Arg111AlafsTer72)" "" "0001011842" "00025605" "90" "328" "0" "328" "0" "c.328dup" "r.(?)" "p.(Arg110ProfsTer52)" "" "0001027141" "00025605" "50" "1683" "0" "1685" "0" "c.1683_1685dup" "r.(?)" "p.(Ala563dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050483" "0000079672" "0000360653" "0000760713" "0000409353" "0000846507"