### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMAD5) # 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}}" "SMAD5" "SMAD family member 5" "5" "q31" "unknown" "NC_000005.9" "UD_136021103661" "" "https://www.LOVD.nl/SMAD5" "" "1" "6771" "4090" "603110" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-31 13:36:18" "00006" "2025-12-31 11:09:06" ## 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}}" "00019408" "SMAD5" "transcript variant 1" "002" "NM_005903.5" "" "NP_005894.3" "" "" "" "-360" "6651" "1397" "135468536" "135518422" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00471682" "" "" "" "1" "" "03465" "" "" "" "" "" "" "0" "" "" "" "patient" "00471683" "" "" "" "1" "" "03465" "" "" "" "" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00471682" "00152" "00471683" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198 ## Count = 3 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000356489" "00152" "00471683" "03465" "Isolated (sporadic)" "" "patent ductus arteriosus" "" "" "" "" "" "" "" "" "" "congenital heart disease (CHD)" "" "0000356493" "00152" "00471682" "03465" "Familial, autosomal dominant" "" "patent ductus arteriosus, ventricular septal defect" "" "" "" "" "" "" "" "" "patent ductus arteriosus" "congenital heart disease (CHD)" "" ## 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}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000473352" "00471682" "1" "03465" "03465" "2025-12-30 16:17:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000473353" "00471683" "1" "03465" "03465" "2025-12-30 16:37:16" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000473352" "SMAD5" "0000473353" "SMAD5" ## 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 = 5 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000859762" "0" "30" "5" "135496549" "135496549" "subst" "1.21975E-5" "01943" "SMAD5_000001" "g.135496549A>G" "" "" "" "SMAD5(NM_001001419.2):c.408A>G (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859763" "0" "30" "5" "135510204" "135510204" "subst" "0.000215442" "01943" "SMAD5_000002" "g.135510204C>T" "" "" "" "SMAD5(NM_001001419.2):c.1137C>T (p.S379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062206" "0" "90" "5" "135489693" "135489693" "subst" "0" "03465" "SMAD5_000003" "g.135489693A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.136154004A>T" "" "pathogenic" "" "0001062207" "0" "90" "5" "135489658" "135489658" "subst" "0" "03465" "SMAD5_000004" "g.135489658G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.136153969G>T" "" "pathogenic (dominant)" "" ## 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 SMAD5 ## Count = 5 "{{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}}" "0000079500" "00019408" "00" "-8388608" "0" "8388607" "0" "c.-11640372_*10204117dup" "" "" "" "0000859762" "00019408" "30" "408" "0" "408" "0" "c.408A>G" "r.(?)" "p.(Leu136=)" "" "0000859763" "00019408" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Ser379=)" "" "0001062206" "00019408" "90" "244" "0" "244" "0" "c.244A>T" "r.(244A>T)" "p.(Lys82Ter)" "" "0001062207" "00019408" "90" "209" "0" "209" "0" "c.209G>T" "r.(209G>T)" "p.(Arg70Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000473352" "0001062206" "0000473353" "0001062207"