### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NGF) # 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}}" "NGF" "nerve growth factor (beta polypeptide)" "1" "p13.1" "unknown" "LRG_260" "UD_132118955808" "" "http://www.LOVD.nl/NGF" "" "1" "7808" "4803" "162030" "1" "1" "1" "1" "This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB." "" "" "" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00000" "2012-05-23 00:00:00" "00006" "2016-04-15 11:38:38" "00000" "2023-07-07 10:10:56" ## 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}}" "00001127" "NGF" "nerve growth factor (beta polypeptide)" "001" "NM_002506.2" "" "NP_002497.2" "" "" "" "-169" "880" "726" "115828537" "115880857" "00000" "2012-09-13 13:13:45" "" "" ## 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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04593" "HSAN5" "neuropathy, sensory and autonomic, hereditary, type V (HSAN-5)" "AR" "608654" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NGF" "04593" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00036396" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00289486" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00289486" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 04593 ## 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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000036466" "00036396" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000290654" "00289486" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000036466" "NGF" ## 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 = 18 "{{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}}" "0000003471" "3" "50" "1" "115868882" "115868882" "subst" "0" "00037" "NGF_000002" "g.115868882A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.115326261A>T" "" "VUS" "" "0000011440" "0" "50" "1" "115868799" "115868799" "subst" "0" "00037" "NGF_000001" "g.115868799C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.115326178C>T" "" "VUS" "" "0000011441" "0" "50" "1" "115868882" "115868882" "subst" "0" "00037" "NGF_000002" "g.115868882A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.115326261A>T" "" "VUS" "" "0000063591" "1" "10" "1" "115829178" "115829178" "subst" "0.0104287" "01164" "NGF_000003" "g.115829178C>T" "" "" "" "" "" "Germline" "" "rs11466111" "0" "" "" "g.115286557C>T" "" "benign" "" "0000293097" "0" "10" "1" "115829313" "115829313" "subst" "0.370152" "02330" "NGF_000005" "g.115829313G>A" "" "" "" "NGF(NM_002506.3):c.104C>T (p.A35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115286692G>A" "" "benign" "" "0000293098" "0" "10" "1" "115829178" "115829178" "subst" "0.0104287" "02330" "NGF_000003" "g.115829178C>T" "" "" "" "NGF(NM_002506.2):c.239G>A (p.R80Q), NGF(NM_002506.3):c.239G>A (p.R80Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115286557C>T" "" "benign" "" "0000293099" "0" "10" "1" "115829363" "115829363" "subst" "0.00941657" "02330" "NGF_000006" "g.115829363C>T" "" "" "" "NGF(NM_002506.3):c.54G>A (p.A18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115286742C>T" "" "benign" "" "0000293100" "0" "90" "1" "115828756" "115828756" "subst" "1.62836E-5" "02330" "NGF_000004" "g.115828756G>A" "" "" "" "NGF(NM_002506.3):c.661C>T (p.R221W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115286135G>A" "" "pathogenic" "" "0000296466" "0" "10" "1" "115829313" "115829313" "subst" "0.370152" "02325" "NGF_000005" "g.115829313G>A" "" "" "" "NGF(NM_002506.3):c.104C>T (p.A35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115286692G>A" "" "benign" "" "0000300031" "0" "30" "1" "115829178" "115829178" "subst" "0.0104287" "02326" "NGF_000003" "g.115829178C>T" "" "" "" "NGF(NM_002506.2):c.239G>A (p.R80Q), NGF(NM_002506.3):c.239G>A (p.R80Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115286557C>T" "" "likely benign" "" "0000502589" "0" "90" "1" "115828737" "115828737" "subst" "0" "02330" "NGF_000007" "g.115828737G>T" "" "" "" "NGF(NM_002506.3):c.680C>A (p.T227K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115286116G>T" "" "pathogenic" "" "0000502590" "0" "50" "1" "115828777" "115828777" "subst" "0" "02330" "NGF_000008" "g.115828777C>T" "" "" "" "NGF(NM_002506.3):c.640G>A (p.D214N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115286156C>T" "" "VUS" "" "0000502591" "0" "50" "1" "115828996" "115828996" "subst" "2.03117E-5" "02330" "NGF_000009" "g.115828996C>G" "" "" "" "NGF(NM_002506.3):c.421G>C (p.V141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.115286375C>G" "" "VUS" "" "0000647343" "1" "50" "1" "115829178" "115829178" "subst" "0.0104287" "03575" "NGF_000003" "g.115829178C>T" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 25 heterozygous, no homozygous; {DB:CLININrs11466111}" "Germline" "" "rs11466111" "0" "" "" "g.115286557C>T" "" "VUS" "" "0000882697" "0" "30" "1" "115829252" "115829252" "subst" "0.000320864" "02326" "NGF_000010" "g.115829252C>T" "" "" "" "NGF(NM_002506.2):c.165G>A (p.P55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927984" "0" "30" "1" "115829203" "115829203" "subst" "0.00147925" "02330" "NGF_000011" "g.115829203C>T" "" "" "" "NGF(NM_002506.3):c.214G>A (p.V72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013197" "0" "50" "1" "115828747" "115828747" "subst" "0" "02325" "NGF_000012" "g.115828747G>A" "" "" "" "NGF(NM_002506.3):c.670C>T (p.R224W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013198" "0" "50" "1" "115828998" "115828998" "subst" "0" "02325" "NGF_000013" "g.115828998C>A" "" "" "" "NGF(NM_002506.3):c.419G>T (p.S140I)" "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 NGF ## Count = 18 "{{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}}" "0000003471" "00001127" "50" "-137" "11943" "-137" "11943" "c.-137+11943T>A" "r.(=)" "p.(=)" "" "0000011440" "00001127" "50" "-137" "12026" "-137" "12026" "c.-137+12026G>A" "r.(=)" "p.(=)" "" "0000011441" "00001127" "50" "-137" "11943" "-137" "11943" "c.-137+11943T>A" "r.(=)" "p.(=)" "" "0000063591" "00001127" "10" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000293097" "00001127" "10" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ala35Val)" "" "0000293098" "00001127" "10" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000293099" "00001127" "10" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Ala18=)" "" "0000293100" "00001127" "90" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Trp)" "" "0000296466" "00001127" "10" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Ala35Val)" "" "0000300031" "00001127" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000502589" "00001127" "90" "680" "0" "680" "0" "c.680C>A" "r.(?)" "p.(Thr227Lys)" "" "0000502590" "00001127" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Asp214Asn)" "" "0000502591" "00001127" "50" "421" "0" "421" "0" "c.421G>C" "r.(?)" "p.(Val141Leu)" "" "0000647343" "00001127" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000882697" "00001127" "30" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Pro55=)" "" "0000927984" "00001127" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Met)" "" "0001013197" "00001127" "50" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Arg224Trp)" "" "0001013198" "00001127" "50" "419" "0" "419" "0" "c.419G>T" "r.(?)" "p.(Ser140Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003471" "0000000210" "0000011440" "0000000210" "0000011441" "0000036466" "0000063591" "0000290654" "0000647343"