### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GDF2) # 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}}" "GDF2" "growth differentiation factor 2" "10" "q11.22" "unknown" "NG_033916.1" "UD_132319319874" "" "https://www.LOVD.nl/GDF2" "" "1" "4217" "2658" "605120" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GDF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-17 15:30:50" "00000" "2024-10-29 21:08:56" ## 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}}" "00008431" "GDF2" "growth differentiation factor 2" "001" "NM_016204.1" "" "NP_057288.1" "" "" "" "-160" "1776" "1290" "48416853" "48413092" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01575" "HHT" "telangiectasia hemorrhagic, hereditary (HHT)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:46:12" "03975" "HHT5" "telangiectasia, hemorrhagic, hereditary, type 5 (HHT5)" "AD" "615506" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-17 15:31:30" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GDF2" "01575" "GDF2" "03975" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00320000" "" "" "" "1" "" "03844" "" "" "-" "yes" "" "" "" "" "" "" "" "00443792" "" "" "" "2" "" "00006" "{PMID:Aukema 2020:32618121}, {PMID:Imafidon 2021:34136434}" "2-generation family, 1 affected and deceased fetal sibling, unaffected heterozygous parents/relatives" "F" "" "Netherlands" "" "0" "" "" "" "patient;Pat583" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00320000" "01575" "00443792" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01575, 03975 ## Count = 1 "{{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}}" "0000333066" "00198" "00443792" "00006" "Familial, autosomal recessive" "01y" "see paper; ..., 34w+6 late onset nonimmune hydrops fetalis with polyhydramnios, right-sided hydrothorax; birth at term emergency cesarean section; 1d-extensive subcutaneous edema (especially head and neck region), no dysmorphic features; 1y-normal mental development, normal psychomotor development.\r\n\r\n; maternal obstetric history 10wg-spontaneous abortion, 33wg-intrauterine fetal death (nonimmune hydrops fetalis with hydrothorax (mosaic trisomy 20)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000321182" "00320000" "1" "03844" "03844" "2020-11-16 17:05:40" "" "" "SEQ" "DNA" "" "" "0000445288" "00443792" "1" "00006" "00006" "2023-12-02 16:57:31" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "targeted WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000321182" "GDF2" ## 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 = 19 "{{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}}" "0000288271" "0" "50" "10" "48414240" "48414240" "subst" "1.21871E-5" "01943" "GDF2_000001" "g.48414240C>T" "" "" "" "GDF2(NM_016204.3):c.628G>A (p.A210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47325122G>A" "" "VUS" "" "0000539944" "0" "30" "10" "48413729" "48413729" "subst" "0.000121895" "02330" "GDF2_000002" "g.48413729A>G" "" "" "" "GDF2(NM_016204.4):c.1139T>C (p.V380A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47325633T>C" "" "likely benign" "" "0000539945" "0" "30" "10" "48413851" "48413851" "subst" "0.000536163" "02330" "GDF2_000003" "g.48413851G>A" "" "" "" "GDF2(NM_016204.4):c.1017C>T (p.I339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47325511C>T" "" "likely benign" "" "0000539946" "0" "30" "10" "48414092" "48414092" "subst" "0.000483249" "02330" "GDF2_000004" "g.48414092T>C" "" "" "" "GDF2(NM_016204.4):c.776A>G (p.N259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47325270A>G" "" "likely benign" "" "0000539947" "0" "10" "10" "48414216" "48414216" "subst" "0.00270604" "02330" "GDF2_000005" "g.48414216C>T" "" "" "" "GDF2(NM_016204.4):c.652G>A (p.D218N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47325146G>A" "" "benign" "" "0000612472" "0" "30" "10" "48414092" "48414092" "subst" "0.000483249" "02327" "GDF2_000004" "g.48414092T>C" "" "" "" "GDF2(NM_016204.4):c.776A>G (p.N259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47325270A>G" "" "likely benign" "" "0000612473" "0" "50" "10" "48414417" "48414417" "subst" "8.12321E-6" "02325" "GDF2_000006" "g.48414417G>A" "" "" "" "GDF2(NM_016204.4):c.451C>T (p.R151*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47324945C>T" "" "VUS" "" "0000612474" "0" "30" "10" "48416597" "48416597" "subst" "0" "02330" "GDF2_000007" "g.48416597C>T" "" "" "" "GDF2(NM_016204.4):c.97G>A (p.A33T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47322765G>A" "" "likely benign" "" "0000703987" "3" "90" "10" "48414033" "48414033" "subst" "0" "03844" "GDF2_000008" "g.48414033C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47325329G>T" "" "likely pathogenic (recessive)" "ACGS" "0000722825" "0" "30" "10" "48414019" "48414019" "subst" "0" "01943" "GDF2_000009" "g.48414019C>T" "" "" "" "GDF2(NM_016204.3):c.849G>A (p.V283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804429" "0" "30" "10" "48413661" "48413661" "subst" "7.1623E-5" "01943" "GDF2_000010" "g.48413661C>T" "" "" "" "GDF2(NM_016204.3):c.1207G>A (p.V403I), GDF2(NM_016204.4):c.1207G>A (p.(Val403Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804430" "0" "90" "10" "48416366" "48416366" "subst" "0" "02327" "GDF2_000011" "g.48416366G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925154" "0" "90" "10" "48414003" "48414003" "subst" "0" "02325" "GDF2_000012" "g.48414003T>A" "" "" "" "GDF2(NM_016204.4):c.865A>T (p.K289*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925155" "0" "90" "10" "48414003" "48414003" "subst" "0" "02329" "GDF2_000012" "g.48414003T>A" "" "" "" "GDF2(NM_016204.4):c.865A>T (p.K289*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925156" "0" "30" "10" "48414092" "48414092" "subst" "0.000483249" "02326" "GDF2_000004" "g.48414092T>C" "" "" "" "GDF2(NM_016204.4):c.776A>G (p.N259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952197" "3" "90" "10" "48414417" "48414417" "subst" "8.12321E-6" "00006" "GDF2_000006" "g.48414417G>A" "" "{PMID:Aukema 2020:32618121}" "" "" "variant homozygous in affected stillbirth, heterozygous in parents/unaffected siblings" "Germline" "yes" "" "0" "" "" "g.47324945C>T" "" "pathogenic (recessive)" "" "0000979043" "0" "30" "10" "48413661" "48413661" "subst" "7.1623E-5" "01804" "GDF2_000010" "g.48413661C>T" "" "" "" "GDF2(NM_016204.3):c.1207G>A (p.V403I), GDF2(NM_016204.4):c.1207G>A (p.(Val403Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979044" "0" "50" "10" "48413825" "48413825" "subst" "0" "02330" "GDF2_000013" "g.48413825G>C" "" "" "" "GDF2(NM_016204.4):c.1043C>G (p.P348R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014622" "0" "10" "10" "48413957" "48413957" "subst" "0.00116171" "02330" "GDF2_000014" "g.48413957G>A" "" "" "" "GDF2(NM_016204.4):c.911C>T (p.T304M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 GDF2 ## Count = 19 "{{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}}" "0000288271" "00008431" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Ala210Thr)" "" "0000539944" "00008431" "30" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Val380Ala)" "" "0000539945" "00008431" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(=)" "" "0000539946" "00008431" "30" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0000539947" "00008431" "10" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "" "0000612472" "00008431" "30" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0000612473" "00008431" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151*)" "" "0000612474" "00008431" "30" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Ala33Thr)" "" "0000703987" "00008431" "90" "835" "0" "835" "0" "c.835G>T" "r.(?)" "p.(Glu279*)" "" "0000722825" "00008431" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(=)" "" "0000804429" "00008431" "30" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Ile)" "" "0000804430" "00008431" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" "" "0000925154" "00008431" "90" "865" "0" "865" "0" "c.865A>T" "r.(?)" "p.(Lys289*)" "" "0000925155" "00008431" "90" "865" "0" "865" "0" "c.865A>T" "r.(?)" "p.(Lys289*)" "" "0000925156" "00008431" "30" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0000952197" "00008431" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151*)" "" "0000979043" "00008431" "30" "1207" "0" "1207" "0" "c.1207G>A" "r.(?)" "p.(Val403Ile)" "" "0000979044" "00008431" "50" "1043" "0" "1043" "0" "c.1043C>G" "r.(?)" "p.(Pro348Arg)" "" "0001014622" "00008431" "10" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Thr304Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000321182" "0000703987" "0000445288" "0000952197"