### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBC1D23) # 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}}" "TBC1D23" "TBC1 domain family, member 23" "3" "q12.2" "unknown" "NC_000003.11" "UD_136094553024" "" "https://www.LOVD.nl/TBC1D23" "" "1" "25622" "55773" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TBC1D23_NM_001199198.2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-02 22:13:31" "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}}" "00025232" "TBC1D23" "transcript variant 1" "001" "NM_001199198.2" "" "NP_001186127.1" "" "" "" "-202" "3684" "2100" "99979661" "100044096" "00006" "2017-09-18 10:18:30" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05331" "PCH" "hypoplasia, pontocerebellar (PCH)" "AD;AR" "" "cerebellum" "" "non-degenerative form of pontocerebellar hypoplasia" "00001" "2017-09-25 12:19:57" "00006" "2021-12-10 21:51:32" "05332" "PCH11" "hypoplasia, pontocerebellar, non-degenerative, type 11 (PCH-11)" "AR" "617695" "" "" "" "00006" "2017-10-02 22:12:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TBC1D23" "05331" "TBC1D23" "05332" ## 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}}" "00131886" "" "" "" "2" "" "02263" "{PMID:Marin-Valencia 2017:28823706}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "M" "yes" "Egypt" ">16y" "0" "" "" "" "FamIPatIV1" "00131887" "" "" "00131886" "1" "" "02263" "{PMID:Marin-Valencia 2017:28823706}" "FamIPatIV5" "M" "yes" "Egypt" ">06y" "0" "" "" "" "FamIPatIV5" "00131888" "" "" "" "2" "" "02263" "{PMID:Marin-Valencia 2017:28823706}" "non-identical twins (II-III-1 & II-III-2)" "F" "yes" "Egypt" ">04y" "0" "" "" "" "II-III-1" "00131889" "" "" "00131888" "1" "" "02263" "{PMID:Marin-Valencia 2017:28823706}" "non-identical twins (II-III-1 & II-III-2)" "F" "yes" "Egypt" ">04y" "0" "" "" "" "II-III-2" "00275590" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00319922" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Pathan" "PKMR52" "00387746" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents once removed" "" "yes" "Iran" "" "0" "" "" "Persia" "M268" "00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00131886" "05331" "00131887" "05331" "00131888" "05331" "00131889" "05331" "00275590" "00198" "00319922" "00139" "00387746" "00139" "00395614" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214, 05331, 05332 ## Count = 8 "{{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}}" "0000104103" "05331" "00131886" "02263" "Familial, autosomal recessive" "16y" "Born 40w (weight 3 kg, length 50 cm, HC 32.2 cm); last examination 16y (weight 38 kg(-2.65 SD), length 143 cm(-3.56 SD), HC 48 cm(-4.77 SD))\r\n \r\ngeneralized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); dysarthria (HP:0001260); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); gait ataxia (HP:0002066); wide-based gait (HP:0002136); unsteady gait (HP:0002317); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); muscle atrophy (HP:0003202); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321); no dysphagia (-HP:0002015)" "?" "" "" "" "" "" "" "" "" "" "" "0000104104" "05331" "00131887" "02263" "Familial, autosomal recessive" "06y" "Born 38w (weight 2.8 kg, length 48 cm, HC 32 cm); last examination 6y (weight 14 kg(-2.96 SD), length 103 cm(-2.44 SD), HC 44.5 cm(-5.27 SD))\r\n\r\ngeneralized weakness (HP:0003324); delayed gross motor, can only sit (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); minimal dysphagia (HP:0002015); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); wide-based gait (HP:0002136); muscular hypotonia (HP:0001252); recurrent respiratory infections (HP:0002205); sepsis (HP:0100806); no apnea (-HP:0002104); no hearing deficit (-HP:0000365); no dizziness (-HP:0002321)" "02y" "" "" "" "" "" "" "" "" "" "" "0000104105" "05331" "00131888" "02263" "Familial, autosomal recessive" "04y" "Born 37w (weight 1.6 kg, length 48 cm, HC 32 cm); last examination 4y (weight 14.5 kg(-0.79 SD), length 103 cm(+0.50 SD), HC 43.5 cm(-3.96 SD))\r\n \r\ngeneralized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); non-ambulatory(HP:0002540); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); hypoplasia of labia minora (HP:0000064)" "?" "" "" "" "" "" "" "" "" "" "" "0000104106" "05331" "00131889" "02263" "Familial, autosomal recessive" "04y" "Born 37w (weight 1.5 kg, length 47 cm, HC 31.5 cm); last examination 4y (weight 11.5 kg(-2.62 SD), length 97 cm(-0.89 SD), HC 41.5 cm(-5.25 SD))\r\n\r\ngeneralized weakness (HP:0003324); delayed gross motor, walks supported (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); wide-based gait (HP:0002136); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); muscle atrophy (HP:0003202); hypoplasia of labia minora (HP:0000064)" "?" "" "" "" "" "" "" "" "" "" "" "0000210210" "00198" "00275590" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Talipes equinovarus (HP:0001762); Abnormality of brain morphology (HP:0012443); Intellectual disability (HP:0001249); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Focal-onset seizure (HP:0007359); Abnormality of coordination (HP:0011443)" "" "" "" "" "" "" "" "" "" "" "" "0000242024" "00139" "00319922" "00006" "Familial, autosomal recessive" "" "severe intellectual disability, speech delay, attention deficit hyperactivity disorder, spasticity, hypotelorism, squint, large and low set ears" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281314" "00139" "00387746" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-7.5), leukoencephalopathy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "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 = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000132723" "00131886" "1" "02263" "02263" "2017-09-26 12:54:40" "" "" "SEQ-NG" "DNA" "blood/saliva/skin" "WES" "0000132724" "00131887" "1" "02263" "02263" "2017-09-26 12:55:10" "" "" "SEQ-NG" "DNA" "blood/saliva/skin" "WES" "0000132726" "00131888" "1" "02263" "02263" "2017-09-26 12:57:46" "" "" "SEQ-NG" "DNA" "blood/saliva/skin" "WES" "0000132727" "00131888" "1" "02263" "02263" "2017-09-26 12:58:27" "" "" "RT-PCR;SEQ-NG" "RNA" "fibroblast" "" "0000132728" "00131889" "1" "02263" "02263" "2017-09-26 12:58:53" "" "" "SEQ-NG" "DNA" "blood/saliva/skin" "WES" "0000132729" "00131889" "1" "02263" "02263" "2017-09-26 12:59:31" "" "" "RT-PCR;SEQ-NG" "RNA" "fibroblast" "" "0000276748" "00275590" "1" "01807" "01807" "2020-01-09 21:03:57" "" "" "SEQ" "DNA" "" "" "0000321103" "00319922" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388977" "00387746" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "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 = 10 "{{screeningid}}" "{{geneid}}" "0000132723" "TBC1D23" "0000132724" "TBC1D23" "0000132726" "TBC1D23" "0000132727" "TBC1D23" "0000132728" "TBC1D23" "0000132729" "TBC1D23" "0000321103" "STX19" "0000321103" "TBC1D23" "0000388977" "TBC1D23" "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 = 28 "{{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}}" "0000221911" "3" "70" "3" "100029386" "100029386" "subst" "0" "02263" "TBC1D23_000004" "g.100029386G>A" "" "{PMID:Marin-Valencia 2017:28823706}" "" "" "fibroblasts not available to assess splicing" "Germline" "" "" "0" "" "" "g.100310542G>A" "" "likely pathogenic" "" "0000221912" "3" "70" "3" "100029386" "100029386" "subst" "0" "02263" "TBC1D23_000004" "g.100029386G>A" "" "{PMID:Marin-Valencia 2017:28823706}" "" "" "fibroblasts not available to assess splicing" "Germline" "" "" "0" "" "" "g.100310542G>A" "" "likely pathogenic" "" "0000221915" "3" "90" "3" "100035033" "100035033" "subst" "0" "02263" "TBC1D23_000006" "g.100035033T>A" "" "{PMID:Marin-Valencia I 2017:28823706}" "" "" "" "Germline" "" "" "0" "" "" "g.100316189T>A" "" "pathogenic" "" "0000221916" "3" "90" "3" "100035033" "100035033" "subst" "0" "02263" "TBC1D23_000006" "g.100035033T>A" "" "{PMID:Marin-Valencia 2017:28823706}" "" "" "" "Germline" "" "" "0" "" "" "g.100316189T>A" "" "pathogenic" "" "0000517268" "0" "50" "3" "100016789" "100016789" "subst" "0.0014056" "02325" "TBC1D23_000008" "g.100016789G>C" "" "" "" "TBC1D23(NM_001199198.3):c.899G>C (p.S300T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100297945G>C" "" "VUS" "" "0000621141" "0" "50" "3" "100030720" "100030720" "subst" "7.46614E-6" "01943" "TBC1D23_000009" "g.100030720C>T" "" "" "" "TBC1D23(NM_001199198.3):c.1597C>T (p.R533W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100311876C>T" "" "VUS" "" "0000630881" "3" "70" "3" "100016841" "100016844" "del" "0" "01807" "TBC1D23_000010" "g.100016841_100016844del" "" "" "" "951_954delTCTG" "" "Unknown" "" "" "0" "" "" "g.100297997_100298000del" "" "likely pathogenic" "" "0000654747" "0" "50" "3" "100025323" "100025323" "subst" "4.06256E-6" "01943" "TBC1D23_000011" "g.100025323A>C" "" "" "" "TBC1D23(NM_018309.4):c.1349A>C (p.E450A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100306479A>C" "" "VUS" "" "0000676755" "0" "10" "3" "100002602" "100002602" "subst" "0.00521164" "01943" "TBC1D23_000013" "g.100002602A>G" "" "" "" "TBC1D23(NM_018309.4):c.423A>G (p.P141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676757" "0" "30" "3" "100020940" "100020940" "subst" "0" "01943" "TBC1D23_000015" "g.100020940G>A" "" "" "" "TBC1D23(NM_018309.4):c.1122G>A (p.Q374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676758" "0" "10" "3" "100023742" "100023742" "subst" "0.00512933" "01943" "TBC1D23_000016" "g.100023742T>C" "" "" "" "TBC1D23(NM_018309.4):c.1306+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677114" "0" "10" "3" "99998531" "99998531" "subst" "0.00516397" "01943" "TBC1D23_000012" "g.99998531G>C" "" "" "" "TBC1D23(NM_001199198.2):c.92G>C (p.(Cys31Ser)), TBC1D23(NM_018309.4):c.92G>C (p.C31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677115" "0" "30" "3" "99998531" "99998531" "subst" "0.00516397" "01804" "TBC1D23_000012" "g.99998531G>C" "" "" "" "TBC1D23(NM_001199198.2):c.92G>C (p.(Cys31Ser)), TBC1D23(NM_018309.4):c.92G>C (p.C31S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688882" "0" "50" "3" "100018179" "100018179" "subst" "0.000123792" "01943" "TBC1D23_000017" "g.100018179A>G" "" "" "" "TBC1D23(NM_001199198.2):c.1092+4A>G (p.?), TBC1D23(NM_001199198.3):c.1092+4A>G, TBC1D23(NM_018309.4):c.1092+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000703893" "3" "70" "3" "100035033" "100035033" "subst" "0" "00006" "TBC1D23_000007" "g.100035033T>G" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.100316189T>G" "" "likely pathogenic" "" "0000719101" "0" "30" "3" "100018179" "100018179" "subst" "0.000123792" "02325" "TBC1D23_000017" "g.100018179A>G" "" "" "" "TBC1D23(NM_001199198.2):c.1092+4A>G (p.?), TBC1D23(NM_001199198.3):c.1092+4A>G, TBC1D23(NM_018309.4):c.1092+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719660" "0" "30" "3" "99998558" "99998558" "subst" "0.00077022" "01943" "TBC1D23_000018" "g.99998558T>C" "" "" "" "TBC1D23(NM_018309.4):c.119T>C (p.I40T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800870" "0" "30" "3" "100018106" "100018106" "subst" "0.000516437" "01943" "TBC1D23_000019" "g.100018106G>A" "" "" "" "TBC1D23(NM_018309.4):c.1023G>A (p.V341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817770" "3" "90" "3" "100029359" "100029359" "del" "0" "00006" "TBC1D23_000020" "g.100029359del" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.100310515del" "" "likely pathogenic (recessive)" "" "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" "0000850080" "0" "50" "3" "100002639" "100002639" "subst" "0.00047199" "01943" "TBC1D23_000021" "g.100002639A>C" "" "" "" "TBC1D23(NM_018309.4):c.460A>C (p.N154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975479" "0" "50" "3" "100018179" "100018179" "subst" "0.000123792" "01804" "TBC1D23_000017" "g.100018179A>G" "" "" "" "TBC1D23(NM_001199198.2):c.1092+4A>G (p.?), TBC1D23(NM_001199198.3):c.1092+4A>G, TBC1D23(NM_018309.4):c.1092+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976026" "0" "30" "3" "99979923" "99979923" "subst" "4.0704E-6" "01804" "TBC1D23_000023" "g.99979923A>G" "" "" "" "TBC1D23(NM_001199198.3):c.53+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993105" "0" "30" "3" "100002585" "100002585" "subst" "1.21933E-5" "01804" "TBC1D23_000024" "g.100002585G>A" "" "" "" "TBC1D23(NM_001199198.2):c.406G>A (p.(Val136Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033545" "0" "30" "3" "100002665" "100002665" "subst" "3.68505E-5" "01804" "TBC1D23_000025" "g.100002665G>A" "" "" "" "TBC1D23(NM_001199198.3):c.476+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033546" "0" "30" "3" "100039818" "100039818" "subst" "0" "01804" "TBC1D23_000026" "g.100039818A>G" "" "" "" "TBC1D23(NM_001199198.3):c.2018+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051428" "0" "30" "3" "99998485" "99998485" "subst" "0" "01804" "TBC1D23_000027" "g.99998485T>A" "" "" "" "TBC1D23(NM_001199198.3):c.54-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051429" "0" "50" "3" "100029301" "100029301" "subst" "0.000113808" "01804" "TBC1D23_000028" "g.100029301A>G" "" "" "" "TBC1D23(NM_001199198.3):c.1468A>G (p.(Met490Val))" "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 TBC1D23 ## Count = 28 "{{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}}" "0000221911" "00025232" "70" "1553" "0" "1553" "0" "c.1553G>A" "r.spl?" "p.(Arg518Gln)" "14" "0000221912" "00025232" "70" "1553" "0" "1553" "0" "c.1553G>A" "r.spl?" "p.(Arg518Gln)" "14" "0000221915" "00025232" "90" "1687" "2" "1687" "2" "c.1687+2T>A" "r.1599_1687del" "p.His534Trpfs*36" "16i" "0000221916" "00025232" "90" "1687" "2" "1687" "2" "c.1687+2T>A" "r.1599_1687del" "p.His534Trpfs*36" "16i" "0000517268" "00025232" "50" "899" "0" "899" "0" "c.899G>C" "r.(?)" "p.(Ser300Thr)" "" "0000621141" "00025232" "50" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Arg533Trp)" "" "0000630881" "00025232" "70" "951" "0" "954" "0" "c.951_954del" "r.(?)" "p.(Cys317fs)" "" "0000654747" "00025232" "50" "1349" "0" "1349" "0" "c.1349A>C" "r.(?)" "p.(Glu450Ala)" "" "0000676755" "00025232" "10" "423" "0" "423" "0" "c.423A>G" "r.(?)" "p.(Pro141=)" "" "0000676757" "00025232" "30" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Gln374=)" "" "0000676758" "00025232" "10" "1306" "10" "1306" "10" "c.1306+10T>C" "r.(=)" "p.(=)" "" "0000677114" "00025232" "10" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Cys31Ser)" "" "0000677115" "00025232" "30" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Cys31Ser)" "" "0000688882" "00025232" "50" "1092" "4" "1092" "4" "c.1092+4A>G" "r.spl?" "p.?" "" "0000703893" "00025232" "70" "1687" "2" "1687" "2" "c.1687+2T>G" "r.spl?" "p.?" "" "0000719101" "00025232" "30" "1092" "4" "1092" "4" "c.1092+4A>G" "r.spl?" "p.?" "" "0000719660" "00025232" "30" "119" "0" "119" "0" "c.119T>C" "r.(?)" "p.(Ile40Thr)" "" "0000800870" "00025232" "30" "1023" "0" "1023" "0" "c.1023G>A" "r.(?)" "p.(Val341=)" "" "0000817770" "00025232" "90" "1526" "0" "1526" "0" "c.1526del" "r.(?)" "p.(Ile509LysfsTer27)" "" "0000828551" "00025232" "50" "-2496498" "0" "8388607" "0" "c.-2496498_*13910968del" "r.0?" "p.0?" "" "0000850080" "00025232" "50" "460" "0" "460" "0" "c.460A>C" "r.(?)" "p.(Asn154His)" "" "0000975479" "00025232" "50" "1092" "4" "1092" "4" "c.1092+4A>G" "r.spl?" "p.?" "" "0000976026" "00025232" "30" "53" "8" "53" "8" "c.53+8A>G" "r.(=)" "p.(=)" "" "0000993105" "00025232" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Met)" "" "0001033545" "00025232" "30" "476" "10" "476" "10" "c.476+10G>A" "r.(=)" "p.(=)" "" "0001033546" "00025232" "30" "2018" "3" "2018" "3" "c.2018+3A>G" "r.spl?" "p.?" "" "0001051428" "00025232" "30" "54" "-8" "54" "-8" "c.54-8T>A" "r.(=)" "p.(=)" "" "0001051429" "00025232" "50" "1468" "0" "1468" "0" "c.1468A>G" "r.(?)" "p.(Met490Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000132723" "0000221911" "0000132724" "0000221912" "0000132726" "0000221915" "0000132727" "0000221915" "0000132728" "0000221916" "0000132729" "0000221916" "0000276748" "0000630881" "0000321103" "0000703893" "0000388977" "0000817770" "0000396852" "0000828551"