### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NTRK2) # 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}}" "NTRK2" "neurotrophic tyrosine kinase, receptor, type 2" "9" "q22.1" "unknown" "NC_000009.11" "UD_132118881856" "" "https://www.LOVD.nl/NTRK2" "" "1" "8032" "4915" "600456" "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/NTRK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-23 11:53:11" "00000" "2025-11-01 13:22:20" ## 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}}" "00025823" "NTRK2" "transcript variant a" "006" "NM_006180.3" "" "NP_006171.2" "" "" "" "-938" "4670" "2517" "87283466" "87638505" "00006" "2023-03-21 13:53:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03483" "OBHD" "obesity, hyperphagia, developmental delay (OBHD)" "AD" "613886" "" "" "autosomal dominant" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06818" "DEE58" "encephalopathy, developmental and epileptic, type 58" "AD" "617830" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2023-10-23 11:52:50" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NTRK2" "03483" "NTRK2" "06818" "NTRK2" "06906" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00434154" "" "" "" "1" "" "01164" "" "" "F" "no" "Portugal" "" "0" "" "" "" "253946" "00438626" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "M" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0103" "00438650" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0335" "00438728" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United States" "" "0" "" "" "" "indvSLIJ" "00438729" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "Jew-Ashkenazi" "T25821" "00438730" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United States" "" "0" "" "" "" "HF303" "00438731" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "Guatemala" "" "0" "" "" "" "HSJ0335" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00434154" "06818" "00438626" "06906" "00438650" "06906" "00438728" "06906" "00438729" "06906" "00438730" "06906" "00438731" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 03483, 06818, 06906 ## Count = 8 "{{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}}" "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" "" "" "" "" "" "" "" "0000324509" "06818" "00434154" "01164" "Isolated (sporadic)" "01y" "Neonatal hypotonia, Global developmental delay" "" "" "" "" "" "" "" "" "" "0000328529" "06906" "00438626" "00006" "Isolated (sporadic)" "02y09m" "see paper; ..., severe, global developmental delay; 3d-seizure; infantile spasms; EEG modified hyps; MRI brain optic nerve hypoplasia; limb hypertonia, hyperreflexia, acquired microcephaly, visual impairment, swallowing difficulties, intractable seizures" "" "" "" "" "" "" "" "DEE58" "infantile spasms" "0000328553" "06906" "00438650" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000328626" "06906" "00438728" "00006" "Isolated (sporadic)" "06y03m" "see paper; ..., severe intellectual disability; autism spectrum disorder; 12h-seizure, recurrent at 5y; EEG diffuse slowing, temporal intermittent rhythmic delta frequency activity; MRI brain optic nerve hypoplasia; hypotonia, lower-limb spasticity, visual impairment, seizures controlled on oxcarbazepine for 1m" "" "" "" "" "" "" "" "DEE58" "developmental and epileptic encephalopathy" "0000328627" "06906" "00438729" "00006" "Isolated (sporadic)" "04y07m" "see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizure; EEG multifocal hyps; MRI brain optic nerve hypoplasia, myelination delay; acquired microcephaly, hypotonia, subtle choreoathetosis, visual impairment, feeding difficulties, intractable seizures, high tolerance to painful stimuli" "" "" "" "" "" "" "" "DEE58" "infantile spasms" "0000328628" "06906" "00438730" "00006" "Isolated (sporadic)" "04y03m" "see paper; ..., severe global developmental delay, suspected severe intellectual disability, autism spectrum disorder; 4m-seizure; EEG diffuse slowing, multifocal; MRI brain optic nerve hypoplasia; limb hypotonia, visual impairment, swallowing difficulties, intractable seizures, high tolerance to painful stimuli (parents report)" "" "" "" "" "" "" "" "DEE58" "infantile spasms" "0000328629" "06906" "00438731" "00006" "Isolated (sporadic)" "09y" "see paper; ..., severe global developmental delay, moderate/severe intellectual disability, autism spectrum disorder; 23m-febrile seizure; 2y6m-seizure; EEG normal, diffuse slowing after seizure; MRI brain delayed myelination, reduced white-matter tracts, ventriculomegaly, thin corpus callosum; swallowing difficulties, 3y-hyperphagia; no seizures for 2 years under CBZ" "" "" "" "" "" "" "" "DEE58" "developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000435622" "00434154" "1" "01164" "01164" "2023-03-21 11:22:48" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000440108" "00438626" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440132" "00438650" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440210" "00438728" "1" "00006" "00006" "2023-10-23 12:03:38" "" "" "SEQ-NG" "DNA" "" "" "0000440211" "00438729" "1" "00006" "00006" "2023-10-23 12:10:13" "" "" "SEQ-NG" "DNA" "" "" "0000440212" "00438730" "1" "00006" "00006" "2023-10-23 12:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000440213" "00438731" "1" "00006" "00006" "2023-10-23 12:20:36" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000435622" "NTRK2" ## 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 = 39 "{{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}}" "0000012709" "3" "50" "9" "87601125" "87601125" "subst" "0" "00037" "chr9_000085" "g.87601125T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.84986210T>C" "" "VUS" "" "0000300459" "0" "30" "9" "87325623" "87325623" "subst" "0.000978744" "02326" "NTRK2_000002" "g.87325623C>A" "" "" "" "NTRK2(NM_001369532.1):c.500C>A (p.S167Y), NTRK2(NM_006180.4):c.500C>A (p.S167Y), NTRK2(NM_006180.6):c.500C>A (p.S167Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84710708C>A" "" "likely benign" "" "0000538601" "0" "30" "9" "87482211" "87482211" "subst" "0" "02326" "NTRK2_000004" "g.87482211A>G" "" "" "" "NTRK2(NM_006180.4):c.1498A>G (p.I500V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84867296A>G" "" "likely benign" "" "0000678722" "0" "30" "9" "87342799" "87342799" "subst" "0" "01943" "NTRK2_000007" "g.87342799A>T" "" "" "" "NTRK2(NM_006180.4):c.1084A>T (p.I362L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722581" "0" "30" "9" "87325564" "87325564" "subst" "8.5291E-5" "02330" "NTRK2_000001" "g.87325564C>T" "" "" "" "NTRK2(NM_006180.6):c.441C>T (p.G147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722582" "0" "50" "9" "87338515" "87338515" "subst" "0.00099494" "02330" "NTRK2_000003" "g.87338515C>A" "" "" "" "NTRK2(NM_006180.6):c.611C>A (p.P204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722583" "0" "30" "9" "87570373" "87570373" "subst" "0.00898087" "02330" "NTRK2_000005" "g.87570373C>T" "" "" "" "NTRK2(NM_006180.6):c.2113C>T (p.L705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804206" "0" "50" "9" "87636209" "87636209" "subst" "1.63087E-5" "02329" "NTRK2_000008" "g.87636209C>T" "" "" "" "NTRK2(NM_006180.6):c.2374C>T (p.R792C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852323" "0" "30" "9" "87317248" "87317248" "subst" "0.00302939" "02326" "NTRK2_000009" "g.87317248T>C" "" "" "" "NTRK2(NM_001369532.1):c.288-15T>C, NTRK2(NM_006180.4):c.288-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888903" "0" "50" "9" "87285689" "87285689" "subst" "4.06659E-6" "02327" "NTRK2_000010" "g.87285689G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888904" "0" "30" "9" "87325623" "87325623" "subst" "0.000978744" "02325" "NTRK2_000002" "g.87325623C>A" "" "" "" "NTRK2(NM_001369532.1):c.500C>A (p.S167Y), NTRK2(NM_006180.4):c.500C>A (p.S167Y), NTRK2(NM_006180.6):c.500C>A (p.S167Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921775" "0" "70" "9" "87570424" "87570424" "subst" "0" "01164" "NTRK2_000011" "g.87570424T>G" "" "" "" "" "ACMG PP3_STR, PS2_MOD, PM5, PM2_SUP, PP2" "De novo" "-" "" "0" "" "" "g.84955509T>G" "" "pathogenic (dominant)" "ACMG" "0000936266" "0" "90" "9" "87366905" "87366905" "subst" "0" "00006" "NTRK2_000012" "g.87366905A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006180:c.A1301G (Y434C)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936424" "0" "70" "9" "87570419" "87570419" "subst" "0" "00006" "NTRK2_000013" "g.87570419C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006180:c.C2159T (T720I)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000936517" "0" "90" "9" "87366905" "87366905" "subst" "0" "00006" "NTRK2_000012" "g.87366905A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.84751990A>G" "" "likely pathogenic (dominant)" "" "0000936518" "0" "90" "9" "87366905" "87366905" "subst" "0" "00006" "NTRK2_000012" "g.87366905A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.84751990A>G" "" "likely pathogenic (dominant)" "" "0000936519" "0" "90" "9" "87366905" "87366905" "subst" "0" "00006" "NTRK2_000012" "g.87366905A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.84751990A>G" "" "likely pathogenic (dominant)" "" "0000936520" "0" "70" "9" "87570419" "87570419" "subst" "0" "00006" "NTRK2_000013" "g.87570419C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.84955504C>T" "" "likely pathogenic (dominant)" "" "0000943895" "0" "50" "9" "87570199" "87570199" "subst" "0" "03779" "NTRK2_000014" "g.87570199G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1445862129" "0" "" "" "" "" "VUS" "" "0000965516" "0" "30" "9" "87317159" "87317159" "subst" "4.46744E-5" "02330" "NTRK2_000015" "g.87317159A>G" "" "" "" "NTRK2(NM_001369532.1):c.287+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965517" "0" "30" "9" "87317248" "87317248" "subst" "0.00302939" "02330" "NTRK2_000009" "g.87317248T>C" "" "" "" "NTRK2(NM_001369532.1):c.288-15T>C, NTRK2(NM_006180.4):c.288-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965518" "0" "30" "9" "87356851" "87356851" "subst" "0.000413612" "02330" "NTRK2_000016" "g.87356851C>T" "" "" "" "NTRK2(NM_001369532.1):c.1195+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965519" "0" "10" "9" "87376165" "87376165" "dup" "0" "02330" "NTRK2_000017" "g.87376165dup" "" "" "" "NTRK2(NM_001369547.1):c.*11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965520" "0" "30" "9" "87635141" "87635141" "subst" "0.000950594" "02330" "NTRK2_000018" "g.87635141G>A" "" "" "" "NTRK2(NM_001369532.1):c.2145G>A (p.L715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965521" "0" "10" "9" "87636313" "87636313" "subst" "0.000982925" "02330" "NTRK2_000019" "g.87636313G>A" "" "" "" "NTRK2(NM_001369532.1):c.2430G>A (p.L810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978785" "0" "30" "9" "87570261" "87570261" "subst" "3.70352E-5" "02330" "NTRK2_000020" "g.87570261G>A" "" "" "" "NTRK2(NM_001369532.1):c.1953G>A (p.S651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978786" "0" "50" "9" "87635220" "87635220" "subst" "4.06197E-6" "02330" "NTRK2_000021" "g.87635220G>A" "" "" "" "NTRK2(NM_001369532.1):c.2224G>A (p.V742M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997979" "0" "50" "9" "87317271" "87317271" "subst" "0" "01804" "NTRK2_000022" "g.87317271T>C" "" "" "" "NTRK2(NM_006180.3):c.296T>C (p.(Val99Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997980" "0" "30" "9" "87367010" "87367010" "del" "0" "02330" "NTRK2_000023" "g.87367010del" "" "" "" "NTRK2(NM_001369532.1):c.1396+10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997981" "0" "30" "9" "87425486" "87425486" "subst" "0" "01804" "NTRK2_000024" "g.87425486G>A" "" "" "" "NTRK2(NM_001007097.1):c.1426G>A (p.(Asp476Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997982" "0" "50" "9" "87570254" "87570254" "subst" "0" "01804" "NTRK2_000025" "g.87570254C>T" "" "" "" "NTRK2(NM_006180.3):c.1994C>T (p.(Thr665Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997983" "0" "30" "9" "87636262" "87636262" "del" "0" "01804" "NTRK2_000026" "g.87636262del" "" "" "" "NTRK2(NM_006180.3):c.2427delG (p.(Glu809fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014567" "0" "10" "9" "87325623" "87325623" "subst" "0.000978744" "02330" "NTRK2_000002" "g.87325623C>A" "" "" "" "NTRK2(NM_001369532.1):c.500C>A (p.S167Y), NTRK2(NM_006180.4):c.500C>A (p.S167Y), NTRK2(NM_006180.6):c.500C>A (p.S167Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037594" "0" "30" "9" "87298104" "87298104" "subst" "0" "01804" "NTRK2_000027" "g.87298104T>C" "" "" "" "NTRK2(NM_006180.6):c.212+12229T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037595" "0" "50" "9" "87325605" "87325605" "subst" "1.21841E-5" "01804" "NTRK2_000028" "g.87325605C>T" "" "" "" "NTRK2(NM_006180.6):c.482C>T (p.(Thr161Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037596" "0" "30" "9" "87366491" "87366491" "subst" "0" "01804" "NTRK2_000029" "g.87366491G>A" "" "" "" "NTRK2(NM_006180.6):c.1297-410G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037597" "0" "50" "9" "87636620" "87636620" "subst" "0" "01804" "NTRK2_000030" "g.87636620T>C" "" "" "" "NTRK2(NM_006180.6):c.*268T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048034" "0" "50" "9" "87549157" "87549157" "subst" "0" "03779" "NTRK2_000031" "g.87549157G>A" "" "" "" "" "" "Unknown" "" "rs2132719970" "0" "" "" "" "" "VUS" "" "0001053275" "0" "50" "9" "87342596" "87342596" "subst" "0" "01804" "NTRK2_000032" "g.87342596C>T" "" "" "" "NTRK2(NM_006180.6):c.881C>T (p.(Ser294Phe))" "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 NTRK2 ## Count = 39 "{{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}}" "0000012709" "00025823" "50" "2172" "30693" "2172" "30693" "c.2172+30693T>C" "r.(=)" "p.(=)" "" "0000300459" "00025823" "30" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Ser167Tyr)" "" "0000538601" "00025823" "30" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ile500Val)" "" "0000678722" "00025823" "30" "1084" "0" "1084" "0" "c.1084A>T" "r.(?)" "p.(Ile362Leu)" "" "0000722581" "00025823" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Gly147=)" "" "0000722582" "00025823" "50" "611" "0" "611" "0" "c.611C>A" "r.(?)" "p.(Pro204His)" "" "0000722583" "00025823" "30" "2113" "0" "2113" "0" "c.2113C>T" "r.(?)" "p.(Leu705=)" "" "0000804206" "00025823" "50" "2374" "0" "2374" "0" "c.2374C>T" "r.(?)" "p.(Arg792Cys)" "" "0000852323" "00025823" "30" "288" "-15" "288" "-15" "c.288-15T>C" "r.(=)" "p.(=)" "" "0000888903" "00025823" "50" "26" "0" "26" "0" "c.26G>T" "r.(?)" "p.(Gly9Val)" "" "0000888904" "00025823" "30" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Ser167Tyr)" "" "0000921775" "00025823" "70" "2164" "0" "2164" "0" "c.2164T>G" "r.(?)" "p.(Tyr722Asp)" "" "0000936266" "00025823" "90" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(Tyr434Cys)" "" "0000936424" "00025823" "70" "2159" "0" "2159" "0" "c.2159C>T" "r.(?)" "p.(Thr720Ile)" "" "0000936517" "00025823" "90" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(Tyr434Cys)" "" "0000936518" "00025823" "90" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(Tyr434Cys)" "" "0000936519" "00025823" "90" "1301" "0" "1301" "0" "c.1301A>G" "r.(?)" "p.(Tyr434Cys)" "" "0000936520" "00025823" "70" "2159" "0" "2159" "0" "c.2159C>T" "r.(?)" "p.(Thr720Ile)" "" "0000943895" "00025823" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Ala647Thr)" "" "0000965516" "00025823" "30" "287" "11" "287" "11" "c.287+11A>G" "r.(=)" "p.(=)" "" "0000965517" "00025823" "30" "288" "-15" "288" "-15" "c.288-15T>C" "r.(=)" "p.(=)" "" "0000965518" "00025823" "30" "1195" "9" "1195" "9" "c.1195+9C>T" "r.(=)" "p.(=)" "" "0000965519" "00025823" "10" "1396" "9165" "1396" "9165" "c.1396+9165dup" "r.(=)" "p.(=)" "" "0000965520" "00025823" "30" "2193" "0" "2193" "0" "c.2193G>A" "r.(?)" "p.(=)" "" "0000965521" "00025823" "10" "2478" "0" "2478" "0" "c.2478G>A" "r.(?)" "p.(=)" "" "0000978785" "00025823" "30" "2001" "0" "2001" "0" "c.2001G>A" "r.(?)" "p.(=)" "" "0000978786" "00025823" "50" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Val758Met)" "" "0000997979" "00025823" "50" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Val99Ala)" "" "0000997980" "00025823" "30" "1396" "10" "1396" "10" "c.1396+10del" "r.(=)" "p.(=)" "" "0000997981" "00025823" "30" "1397" "-50469" "1397" "-50469" "c.1397-50469G>A" "r.(=)" "p.(=)" "" "0000997982" "00025823" "50" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Thr665Met)" "" "0000997983" "00025823" "30" "2427" "0" "2427" "0" "c.2427del" "r.(?)" "p.(Glu809Aspfs*4)" "" "0001014567" "00025823" "10" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Ser167Tyr)" "" "0001037594" "00025823" "30" "212" "12229" "212" "12229" "c.212+12229T>C" "r.(=)" "p.(=)" "" "0001037595" "00025823" "50" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Thr161Ile)" "" "0001037596" "00025823" "30" "1297" "-410" "1297" "-410" "c.1297-410G>A" "r.(=)" "p.(=)" "" "0001037597" "00025823" "50" "2785" "0" "2785" "0" "c.*268T>C" "r.(=)" "p.(=)" "" "0001048034" "00025823" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Glu572Lys)" "" "0001053275" "00025823" "50" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ser294Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012709" "0000435622" "0000921775" "0000440108" "0000936266" "0000440132" "0000936424" "0000440210" "0000936517" "0000440211" "0000936518" "0000440212" "0000936519" "0000440213" "0000936520"