### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TFG) # 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}}" "TFG" "TRK-fused gene" "3" "q12.2" "unknown" "NG_027821.1" "UD_132118781546" "" "http://www.LOVD.nl/TFG" "" "1" "11758" "10342" "602498" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TFG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-03-18 16:36:13" "00000" "2025-07-08 13:22:38" ## 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}}" "00024112" "TFG" "transcript variant 2" "001" "NM_001007565.2" "" "NP_001007566.1" "" "" "" "-185" "1639" "1203" "100428134" "100467811" "00006" "2016-03-18 16:35:02" "" "" ## 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" "02513" "HMSNO" "neuropathy, motor and sensory, hereditary, Okinawa type" "AD" "604484" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03102" "EMC" "Chondrosarcoma, extraskeletal myxoid" "" "612237" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04043" "SPG57" "paraplegia, spastic, type 57, autosomal recessive (SPG-57)" "AR" "615658" "" "" "" "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}}" "TFG" "02513" "TFG" "03102" "TFG" "04043" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00059235" "" "" "" "3" "" "01552" "" "homozygous in three affected siblings, heterozygous in parents and one sibling, not present in one healthy sibling" "F" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00074496" "" "" "" "1" "" "01500" "Harlalka et al, submitted to Human Mutation in 2016" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00074498" "" "" "" "1" "" "01500" "Harlalka et al, submitted to Human Mutation in 2016" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00074499" "" "" "" "1" "" "01500" "Harlalka et al, submitted to Human Mutation in 2016" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00074500" "" "" "" "1" "" "01500" "Harlalka et al, submitted to Human Mutation in 2016" "" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00074502" "" "" "" "1" "" "01500" "Harlalka et al, submitted to Human Mutation in 2016" "" "F" "?" "India" "" "0" "" "" "" "" "00074503" "" "" "" "1" "" "01500" "Harlalka et al, submitted to Human Mutation in 2016" "" "F" "?" "India" "" "0" "" "" "" "" "00301732" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "F" "" "" "" "0" "" "" "" "17-1906" "00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00059235" "04043" "00074496" "04043" "00074498" "04043" "00074499" "04043" "00074500" "04043" "00074502" "04043" "00074503" "04043" "00301732" "00198" "00395614" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02513, 03102, 04043, 04214 ## Count = 9 "{{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}}" "0000045740" "04043" "00059235" "01552" "Familial, autosomal recessive" "08y" "spastic paraplegia, cognitive impairment" "01y?" "" "" "" "" "" "" "" "" "" "" "0000054325" "04043" "00074500" "01500" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054326" "04043" "00074496" "01500" "Familial, autosomal dominant" "26y" "subclinical signs for upper motoneuron pathology" "" "" "" "" "" "" "" "" "" "" "" "0000054327" "04043" "00074498" "01500" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054328" "04043" "00074499" "01500" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054329" "04043" "00074502" "01500" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054330" "04043" "00074503" "01500" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228830" "00198" "00301732" "00006" "Familial, autosomal recessive" "4y" "product of FT SVD. She sat at 6 months of age, crawled at 8 months, she is still unable to walk independently, and is only able to say few words which were not clear. Her vision and hearing were normal. She can recognize her family members. Not dysmorphic but she has spasticity of the lower limbs. The impression when she was at the age of 2 years was spastic paraplegia. Parents are consanguineous related as first cousins and reported to have good health. They have three daughters; two of them are affected with the same presentation. Positive family history of similar illness in her cousin. She also has one uncle and one aunt from her paternal side with similar presentation." "" "" "" "" "" "" "" "" "" "" "" "0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059222" "00059235" "1" "01552" "01552" "2016-03-04 12:20:14" "01552" "2016-03-04 12:27:55" "SEQ;SEQ-NG-I" "DNA" "" "" "0000074660" "00074496" "1" "01500" "01500" "2016-07-05 13:36:26" "" "" "SEQ-NG" "DNA" "leukocytes" "" "0000074661" "00074498" "1" "01500" "01500" "2016-07-05 13:42:10" "" "" "SEQ" "DNA" "leukocytes" "" "0000074662" "00074499" "1" "01500" "01500" "2016-07-05 13:47:14" "" "" "SEQ" "DNA" "leukocytes" "" "0000074664" "00074500" "1" "01500" "01500" "2016-07-05 13:49:44" "" "" "SEQ" "DNA" "leukocytes" "" "0000074666" "00074502" "1" "01500" "01500" "2016-07-05 13:52:11" "" "" "SEQ" "DNA" "leukocytes" "" "0000074667" "00074503" "1" "01500" "01500" "2016-07-05 13:54:04" "" "" "SEQ" "DNA" "leukocytes" "" "0000302856" "00301732" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000074660" "TFG" "0000074661" "TFG" "0000074662" "TFG" "0000074664" "TFG" "0000074666" "TFG" "0000074667" "TFG" "0000302856" "TFG" "0000396852" "IMPG2" ## 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 = 43 "{{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}}" "0000090062" "3" "90" "3" "100432593" "100432593" "subst" "1.62957E-5" "01552" "TFG_000001" "g.100432593C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100713749C>T" "" "pathogenic" "" "0000119583" "3" "90" "3" "100447604" "100447604" "subst" "6.52656E-5" "01500" "TFG_000003" "g.100447604G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100728760G>A" "" "pathogenic" "" "0000119584" "3" "90" "3" "100447604" "100447604" "subst" "6.52656E-5" "01500" "TFG_000003" "g.100447604G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100728760G>A" "" "pathogenic" "" "0000119585" "3" "90" "3" "100447604" "100447604" "subst" "6.52656E-5" "01500" "TFG_000003" "g.100447604G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100728760G>A" "" "pathogenic" "" "0000119586" "3" "90" "3" "100447604" "100447604" "subst" "6.52656E-5" "01500" "TFG_000003" "g.100447604G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100728760G>A" "" "pathogenic" "" "0000119587" "0" "90" "3" "100447603" "100447603" "subst" "4.09222E-5" "01500" "TFG_000002" "g.100447603C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100728759C>T" "" "pathogenic" "" "0000119588" "3" "90" "3" "100447603" "100447603" "subst" "4.09222E-5" "01500" "TFG_000002" "g.100447603C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100728759C>T" "" "pathogenic" "" "0000246152" "0" "10" "3" "100447718" "100447718" "subst" "0.00277035" "02330" "TFG_000007" "g.100447718A>G" "" "" "" "TFG(NM_006070.6):c.415+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100728874A>G" "" "benign" "" "0000309129" "0" "30" "3" "100432724" "100432724" "subst" "0.00060182" "02330" "TFG_000004" "g.100432724T>C" "" "" "" "TFG(NM_006070.6):c.184+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100713880T>C" "" "likely benign" "" "0000309130" "0" "10" "3" "100438809" "100438809" "del" "0" "02330" "TFG_000006" "g.100438809del" "" "" "" "TFG(NM_006070.6):c.185-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100719965del" "" "benign" "" "0000309132" "0" "10" "3" "100451488" "100451488" "subst" "0.0110065" "02330" "TFG_000008" "g.100451488G>A" "" "" "" "TFG(NM_006070.6):c.552G>A (p.A184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100732644G>A" "" "benign" "" "0000309133" "0" "30" "3" "100455433" "100455433" "subst" "0.00441589" "02330" "TFG_000009" "g.100455433T>G" "" "" "" "TFG(NM_006070.6):c.594T>G (p.A198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100736589T>G" "" "likely benign" "" "0000309134" "0" "30" "3" "100455460" "100455460" "subst" "2.43998E-5" "02330" "TFG_000010" "g.100455460C>T" "" "" "" "TFG(NM_006070.6):c.621C>T (p.P207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100736616C>T" "" "likely benign" "" "0000309135" "0" "10" "3" "100463669" "100463669" "subst" "0" "02330" "TFG_000011" "g.100463669G>T" "" "" "" "TFG(NM_006070.6):c.722-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100744825G>T" "" "benign" "" "0000309136" "0" "10" "3" "100467018" "100467018" "subst" "0.701526" "02330" "TFG_000012" "g.100467018T>C" "" "" "" "TFG(NM_006070.6):c.846T>C (p.P282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100748174T>C" "" "benign" "" "0000311795" "0" "10" "3" "100467018" "100467018" "subst" "0.701526" "02325" "TFG_000012" "g.100467018T>C" "" "" "" "TFG(NM_006070.6):c.846T>C (p.P282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100748174T>C" "" "benign" "" "0000517272" "0" "50" "3" "100432597" "100432597" "subst" "2.03668E-5" "02330" "TFG_000013" "g.100432597G>A" "" "" "" "TFG(NM_001195479.1):c.68G>A (p.R23Q), TFG(NM_006070.6):c.68G>A (p.R23Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100713753G>A" "" "VUS" "" "0000517273" "0" "10" "3" "100438809" "100438809" "dup" "0" "02330" "TFG_000014" "g.100438809dup" "" "" "" "TFG(NM_006070.6):c.185-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100719965dup" "" "benign" "" "0000517274" "0" "70" "3" "100447603" "100447603" "subst" "4.09222E-5" "02327" "TFG_000002" "g.100447603C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100728759C>T" "" "likely pathogenic" "" "0000517275" "0" "30" "3" "100455503" "100455503" "subst" "1.22054E-5" "01943" "TFG_000015" "g.100455503G>A" "" "" "" "TFG(NM_006070.6):c.664G>A (p.V222I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100736659G>A" "" "likely benign" "" "0000517276" "0" "30" "3" "100455574" "100455574" "subst" "0" "02330" "TFG_000016" "g.100455574T>G" "" "" "" "TFG(NM_006070.6):c.721+14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100736730T>G" "" "likely benign" "" "0000517277" "0" "10" "3" "100467117" "100467117" "subst" "0.00349716" "02330" "ABI3BP_000007" "g.100467117G>A" "" "" "" "TFG(NM_006070.6):c.945G>A (p.P315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100748273G>A" "" "benign" "" "0000608176" "0" "30" "3" "100432706" "100432706" "subst" "1.87966E-5" "02326" "TFG_000017" "g.100432706A>G" "" "" "" "TFG(NM_006070.6):c.177A>G (p.K59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100713862A>G" "" "likely benign" "" "0000621142" "0" "50" "3" "100451364" "100451364" "subst" "0" "01943" "TFG_000018" "g.100451364G>A" "" "" "" "TFG(NM_001195479.1):c.428G>A (p.G143D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100732520G>A" "" "VUS" "" "0000621143" "0" "50" "3" "100467232" "100467232" "subst" "0.00120379" "01943" "ABI3BP_000011" "g.100467232C>G" "" "" "" "TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100748388C>G" "" "VUS" "" "0000666213" "3" "50" "3" "100447607" "100447607" "subst" "0" "00006" "TFG_000019" "g.100447607G>C" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PM2, PP3, PP1" "Germline" "" "" "0" "" "" "g.100728763G>C" "" "VUS" "ACMG" "0000676759" "0" "50" "3" "100432597" "100432597" "subst" "2.03668E-5" "01943" "TFG_000013" "g.100432597G>A" "" "" "" "TFG(NM_001195479.1):c.68G>A (p.R23Q), TFG(NM_006070.6):c.68G>A (p.R23Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676760" "0" "10" "3" "100438892" "100438892" "subst" "0.000889254" "02330" "TFG_000020" "g.100438892G>T" "" "" "" "TFG(NM_001195479.2):c.258G>T (p.L86=), TFG(NM_006070.6):c.258G>T (p.L86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719102" "0" "30" "3" "100438892" "100438892" "subst" "0.000889254" "02326" "TFG_000020" "g.100438892G>T" "" "" "" "TFG(NM_001195479.2):c.258G>T (p.L86=), TFG(NM_006070.6):c.258G>T (p.L86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719103" "0" "30" "3" "100447718" "100447718" "subst" "0.00277035" "02326" "TFG_000007" "g.100447718A>G" "" "" "" "TFG(NM_006070.6):c.415+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800871" "0" "50" "3" "100467329" "100467329" "subst" "4.07451E-6" "02330" "ABI3BP_000014" "g.100467329C>T" "" "" "" "TFG(NM_001195479.2):c.1145C>T (p.P382L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG" "0000858735" "0" "10" "3" "100438809" "100438809" "dup" "0" "02326" "TFG_000014" "g.100438809dup" "" "" "" "TFG(NM_006070.6):c.185-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858736" "0" "30" "3" "100438859" "100438859" "subst" "1.36495E-5" "02326" "TFG_000021" "g.100438859C>G" "" "" "" "TFG(NM_001195479.2):c.225C>G (p.S75=), TFG(NM_006070.6):c.225C>G (p.S75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885455" "0" "30" "3" "100438859" "100438859" "subst" "1.36495E-5" "02330" "TFG_000021" "g.100438859C>G" "" "" "" "TFG(NM_001195479.2):c.225C>G (p.S75=), TFG(NM_006070.6):c.225C>G (p.S75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885456" "0" "30" "3" "100467232" "100467232" "subst" "0.00120379" "02326" "ABI3BP_000011" "g.100467232C>G" "" "" "" "TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885457" "0" "30" "3" "100467262" "100467262" "subst" "0.000964183" "02326" "ABI3BP_000016" "g.100467262A>C" "" "" "" "TFG(NM_006070.6):c.1090A>C (p.T364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911789" "0" "10" "3" "100451343" "100451343" "subst" "0.00387349" "02330" "TFG_000022" "g.100451343T>C" "" "" "" "TFG(NM_006070.6):c.416-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911790" "0" "10" "3" "100467262" "100467262" "subst" "0.000964183" "02330" "ABI3BP_000016" "g.100467262A>C" "" "" "" "TFG(NM_006070.6):c.1090A>C (p.T364P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923800" "0" "30" "3" "100467232" "100467232" "subst" "0.00120379" "02325" "ABI3BP_000011" "g.100467232C>G" "" "" "" "TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962367" "0" "50" "3" "100451486" "100451486" "subst" "8.2118E-6" "02330" "TFG_000023" "g.100451486G>A" "" "" "" "TFG(NM_006070.6):c.550G>A (p.A184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033547" "0" "10" "3" "100467232" "100467232" "subst" "0.00120379" "02330" "ABI3BP_000011" "g.100467232C>G" "" "" "" "TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045864" "0" "50" "3" "100467188" "100467188" "subst" "0" "02325" "ABI3BP_000017" "g.100467188A>G" "" "" "" "TFG(NM_006070.6):c.1016A>G (p.Y339C)" "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 TFG ## Count = 43 "{{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}}" "0000090062" "00024112" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Trp)" "1" "0000119583" "00024112" "90" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "4" "0000119584" "00024112" "90" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "4" "0000119585" "00024112" "90" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "4" "0000119586" "00024112" "90" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "4" "0000119587" "00024112" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "4" "0000119588" "00024112" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "4" "0000246152" "00024112" "10" "415" "16" "415" "16" "c.415+16A>G" "r.(=)" "p.(=)" "" "0000309129" "00024112" "30" "184" "11" "184" "11" "c.184+11T>C" "r.(=)" "p.(=)" "" "0000309130" "00024112" "10" "185" "-10" "185" "-10" "c.185-10del" "r.(=)" "p.(=)" "" "0000309132" "00024112" "10" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Ala184=)" "" "0000309133" "00024112" "30" "594" "0" "594" "0" "c.594T>G" "r.(?)" "p.(Ala198=)" "" "0000309134" "00024112" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Pro207=)" "" "0000309135" "00024112" "10" "722" "-8" "722" "-8" "c.722-8G>T" "r.(=)" "p.(=)" "" "0000309136" "00024112" "10" "846" "0" "846" "0" "c.846T>C" "r.(?)" "p.(Pro282=)" "" "0000311795" "00024112" "10" "846" "0" "846" "0" "c.846T>C" "r.(?)" "p.(Pro282=)" "" "0000517272" "00024112" "50" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "" "0000517273" "00024112" "10" "185" "-10" "185" "-10" "c.185-10dup" "r.(=)" "p.(=)" "" "0000517274" "00024112" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000517275" "00024112" "30" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Val222Ile)" "" "0000517276" "00024112" "30" "721" "14" "721" "14" "c.721+14T>G" "r.(=)" "p.(=)" "" "0000517277" "00024112" "10" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Pro315=)" "" "0000608176" "00024112" "30" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(Lys59=)" "" "0000621142" "00024112" "50" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Gly143Asp)" "" "0000621143" "00024112" "50" "1060" "0" "1060" "0" "c.1060C>G" "r.(?)" "p.(Pro354Ala)" "" "0000666213" "00024112" "50" "320" "0" "320" "0" "c.320G>C" "r.(?)" "p.(Arg107Pro)" "" "0000676759" "00024112" "50" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "" "0000676760" "00024112" "10" "258" "0" "258" "0" "c.258G>T" "r.(?)" "p.(Leu86=)" "" "0000719102" "00024112" "30" "258" "0" "258" "0" "c.258G>T" "r.(?)" "p.(Leu86=)" "" "0000719103" "00024112" "30" "415" "16" "415" "16" "c.415+16A>G" "r.(=)" "p.(=)" "" "0000800871" "00024112" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Pro386Leu)" "" "0000828551" "00024112" "50" "-2944954" "0" "8388607" "0" "c.-2944954_*13486105del" "r.0?" "p.0?" "" "0000858735" "00024112" "10" "185" "-10" "185" "-10" "c.185-10dup" "r.(=)" "p.(=)" "" "0000858736" "00024112" "30" "225" "0" "225" "0" "c.225C>G" "r.(?)" "p.(Ser75=)" "" "0000885455" "00024112" "30" "225" "0" "225" "0" "c.225C>G" "r.(?)" "p.(Ser75=)" "" "0000885456" "00024112" "30" "1060" "0" "1060" "0" "c.1060C>G" "r.(?)" "p.(Pro354Ala)" "" "0000885457" "00024112" "30" "1090" "0" "1090" "0" "c.1090A>C" "r.(?)" "p.(Thr364Pro)" "" "0000911789" "00024112" "10" "416" "-9" "416" "-9" "c.416-9T>C" "r.(=)" "p.(=)" "" "0000911790" "00024112" "10" "1090" "0" "1090" "0" "c.1090A>C" "r.(?)" "p.(Thr364Pro)" "" "0000923800" "00024112" "30" "1060" "0" "1060" "0" "c.1060C>G" "r.(?)" "p.(Pro354Ala)" "" "0000962367" "00024112" "50" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Ala184Thr)" "" "0001033547" "00024112" "10" "1060" "0" "1060" "0" "c.1060C>G" "r.(?)" "p.(Pro354Ala)" "" "0001045864" "00024112" "50" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000059222" "0000090062" "0000074660" "0000119583" "0000074661" "0000119584" "0000074662" "0000119585" "0000074664" "0000119586" "0000074666" "0000119587" "0000074667" "0000119588" "0000302856" "0000666213" "0000396852" "0000828551"