### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBC1D32) # 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}}" "TBC1D32" "TBC1 domain family, member 32" "6" "q22.31" "unknown" "NC_000006.11" "UD_138321198254" "" "https://www.LOVD.nl/TBC1D32" "" "1" "21485" "221322" "615867" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/TBC1D32_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-10-31 00:00:00" "00006" "2026-06-27 17:16:03" "00000" "2025-05-05 21:14:00" ## 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}}" "00003805" "TBC1D32" "TBC1 domain family, member 32" "001" "NM_152730.4" "" "NP_689943.4" "" "" "" "-68" "5064" "3774" "121655644" "121400627" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00263" "OFD9" "orofaciodigital syndrome, type 9" "AR" "258865" "" "" "" "00006" "2013-10-31 13:51:12" "00006" "2026-06-27 17:19:03" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "07265" "RP100" "retinitis pigmentosa, type 100" "AR" "621280" "" "" "" "00006" "2026-06-27 17:14:18" "" "" "07266" "ALHAS" "Alsahan-Harris syndrome" "AR" "621307" "" "" "" "00006" "2026-06-27 17:17:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "TBC1D32" "00112" "TBC1D32" "00263" "TBC1D32" "07265" "TBC1D32" "07266" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00003133" "" "" "" "1" "" "00549" "{PMID:Adly 2014:24285566}, {DOI:Adly 2014:10.1002/humu.22477}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "00y06m" "0" "" "" "Arab" "24285566-Fam1PatIV1" "00332127" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F55‐M" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00003133" "00263" "00332127" "00356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00263, 00356, 07265, 07266 ## Count = 2 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000001952" "00263" "00003133" "00549" "Isolated (sporadic)" "" "24w gestation-cleft lip, abnormal hands, small occipiofrontal circumference; birth-microcephaly, right microphthalmia, left anophthalmia, bilateral optic disc coloboma, severe midline cleft (lip/alveolus), hypertelorism, severe choanal stenosis, left hand post-axial polydactyly, ambiguous genitalia, ECG patent ductus arteriosus and ASD; further details see Adly, submitted; 6m-died cardiac arrest" "" "" "" "" "" "" "" "" "0000250318" "00356" "00332127" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003050" "00003133" "1" "00549" "00549" "2013-10-30 20:18:50" "00006" "2013-11-01 16:46:02" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000333347" "00332127" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000003050" "TBC1D32" "0000333347" "TBC1D32" ## 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 = 23 "{{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}}" "0000021579" "3" "90" "6" "121613198" "121613198" "subst" "4.41026E-6" "00549" "TBC1D32_000001" "g.121613198C>A" "" "{PMID:Adly 2014:24285566}, {DOI:Adly 2014:10.1002/humu.22477}" "" "" "not in 250 exomes nor 192 control chromosomes" "Germline" "yes" "" "0" "" "" "g.121292052C>A" "" "pathogenic" "" "0000331176" "0" "30" "6" "121402024" "121402024" "subst" "0.00278687" "01804" "TBC1D32_000002" "g.121402024G>A" "" "" "" "TBC1D32(NM_152730.4):c.3667C>T (p.(His1223Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121080878G>A" "" "likely benign" "" "0000527034" "0" "30" "6" "121560272" "121560272" "subst" "0.000142616" "01804" "TBC1D32_000009" "g.121560272T>C" "" "" "" "TBC1D32(NM_152730.4):c.2308A>G (p.(Arg770Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121239126T>C" "" "likely benign" "" "0000527035" "0" "30" "6" "121602707" "121602707" "subst" "1.2488E-5" "01804" "TBC1D32_000010" "g.121602707A>C" "" "" "" "TBC1D32(NM_152730.4):c.1591T>G (p.(Leu531Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121281561A>C" "" "likely benign" "" "0000527036" "0" "30" "6" "121602785" "121602785" "subst" "0.0431203" "01804" "TBC1D32_000011" "g.121602785T>A" "" "" "" "TBC1D32(NM_152730.4):c.1513A>T (p.(Ser505Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121281639T>A" "" "likely benign" "" "0000527037" "0" "50" "6" "121602832" "121602832" "subst" "0.000255058" "01804" "TBC1D32_000012" "g.121602832T>A" "" "" "" "TBC1D32(NM_152730.4):c.1466A>T (p.(Glu489Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121281686T>A" "" "VUS" "" "0000527040" "0" "30" "6" "121625945" "121625945" "subst" "0.0424772" "01804" "TBC1D32_000015" "g.121625945A>G" "" "" "" "TBC1D32(NM_152730.4):c.725T>C (p.(Leu242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121304799A>G" "" "likely benign" "" "0000527041" "0" "30" "6" "121629208" "121629208" "subst" "0.00209879" "01804" "TBC1D32_000016" "g.121629208G>C" "" "" "" "TBC1D32(NM_152730.4):c.604C>G (p.(Pro202Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121308062G>C" "" "likely benign" "" "0000527043" "0" "30" "6" "121638666" "121638666" "subst" "0.0434768" "01804" "TBC1D32_000017" "g.121638666G>A" "" "" "" "TBC1D32(NM_152730.4):c.470C>T (p.(Ser157Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121317520G>A" "" "likely benign" "" "0000527044" "0" "30" "6" "121638682" "121638682" "subst" "0.0441965" "01804" "TBC1D32_000018" "g.121638682G>A" "" "" "" "TBC1D32(NM_152730.4):c.454C>T (p.(Arg152Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121317536G>A" "" "likely benign" "" "0000609961" "0" "50" "6" "121629173" "121629174" "del" "0" "01943" "TBC1D32_000020" "g.121629173_121629174del" "" "" "" "TBC1D32(NM_152730.5):c.642_643delCT (p.C215Rfs*11), TBC1D32(NM_152730.6):c.642_643delCT (p.C215Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121308027_121308028del" "" "VUS" "" "0000720651" "0" "50" "6" "121452864" "121452864" "subst" "0" "02325" "TBC1D32_000021" "g.121452864T>A" "" "" "" "TBC1D32(NM_152730.6):c.2808A>T (p.K936N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730918" "3" "90" "6" "121613198" "121613198" "subst" "4.41026E-6" "00000" "TBC1D32_000001" "g.121613198C>A" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.121292052C>A" "" "pathogenic (recessive)" "" "0000851047" "0" "50" "6" "121434289" "121434289" "subst" "0.000464531" "01943" "TBC1D32_000022" "g.121434289C>A" "" "" "" "TBC1D32(NM_001367759.1):c.3211G>T (p.A1071S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851048" "0" "30" "6" "121482100" "121482100" "subst" "4.87912E-5" "01943" "TBC1D32_000023" "g.121482100G>A" "" "" "" "TBC1D32(NM_001367759.1):c.2796C>T (p.L932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851049" "0" "50" "6" "121526264" "121526264" "subst" "6.24808E-5" "01943" "TBC1D32_000024" "g.121526264G>A" "" "" "" "TBC1D32(NM_001367759.1):c.2527C>T (p.R843C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851050" "0" "30" "6" "121602737" "121602737" "subst" "0.000164987" "01943" "TBC1D32_000025" "g.121602737T>C" "" "" "" "TBC1D32(NM_001367759.1):c.1561A>G (p.I521V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887026" "0" "90" "6" "121629173" "121629174" "del" "0" "02326" "TBC1D32_000020" "g.121629173_121629174del" "" "" "" "TBC1D32(NM_152730.5):c.642_643delCT (p.C215Rfs*11), TBC1D32(NM_152730.6):c.642_643delCT (p.C215Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995309" "0" "30" "6" "121544432" "121544432" "subst" "0.000197994" "01804" "TBC1D32_000026" "g.121544432G>T" "" "" "" "TBC1D32(NM_152730.4):c.2431C>A (p.(Leu811Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995310" "0" "50" "6" "121560248" "121560248" "subst" "0.000126291" "01804" "TBC1D32_000027" "g.121560248G>T" "" "" "" "TBC1D32(NM_152730.4):c.2332C>A (p.(Pro778Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995311" "0" "50" "6" "121563400" "121563400" "subst" "0" "01804" "TBC1D32_000028" "g.121563400C>T" "" "" "" "TBC1D32(NM_152730.4):c.2104G>A (p.(Ala702Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035440" "0" "50" "6" "121433661" "121433661" "subst" "0" "01804" "TBC1D32_000029" "g.121433661A>G" "" "" "" "TBC1D32(NM_152730.6):c.3314T>C (p.(Leu1105Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035441" "0" "50" "6" "121526236" "121526236" "subst" "6.40988E-5" "01804" "TBC1D32_000030" "g.121526236T>C" "" "" "" "TBC1D32(NM_152730.6):c.2555A>G (p.(His852Arg))" "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 TBC1D32 ## Count = 23 "{{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}}" "0000021579" "00003805" "90" "1372" "1" "1372" "1" "c.1372+1G>T" "r.1232_1372del" "p.Arg411_Gly458delinsSer" "12i" "0000331176" "00003805" "30" "3667" "0" "3667" "0" "c.3667C>T" "r.(?)" "p.(His1223Tyr)" "" "0000527034" "00003805" "30" "2308" "0" "2308" "0" "c.2308A>G" "r.(?)" "p.(Arg770Gly)" "" "0000527035" "00003805" "30" "1591" "0" "1591" "0" "c.1591T>G" "r.(?)" "p.(Leu531Val)" "" "0000527036" "00003805" "30" "1513" "0" "1513" "0" "c.1513A>T" "r.(?)" "p.(Ser505Cys)" "" "0000527037" "00003805" "50" "1466" "0" "1466" "0" "c.1466A>T" "r.(?)" "p.(Glu489Val)" "" "0000527040" "00003805" "30" "725" "0" "725" "0" "c.725T>C" "r.(?)" "p.(Leu242Ser)" "" "0000527041" "00003805" "30" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Pro202Ala)" "" "0000527043" "00003805" "30" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ser157Phe)" "" "0000527044" "00003805" "30" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000609961" "00003805" "50" "642" "0" "643" "0" "c.642_643del" "r.(?)" "p.(Cys215ArgfsTer11)" "" "0000720651" "00003805" "50" "2808" "0" "2808" "0" "c.2808A>T" "r.(?)" "p.(Lys936Asn)" "" "0000730918" "00003805" "90" "1372" "1" "1372" "1" "c.1372+1G>T" "r.1232_1372del" "p.(Arg411_Gly458delinsSer)" "" "0000851047" "00003805" "50" "3088" "0" "3088" "0" "c.3088G>T" "r.(?)" "p.(Ala1030Ser)" "" "0000851048" "00003805" "30" "2673" "0" "2673" "0" "c.2673C>T" "r.(?)" "p.(Leu891=)" "" "0000851049" "00003805" "50" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Cys)" "" "0000851050" "00003805" "30" "1561" "0" "1561" "0" "c.1561A>G" "r.(?)" "p.(Ile521Val)" "" "0000887026" "00003805" "90" "642" "0" "643" "0" "c.642_643del" "r.(?)" "p.(Cys215ArgfsTer11)" "" "0000995309" "00003805" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Leu811Ile)" "" "0000995310" "00003805" "50" "2332" "0" "2332" "0" "c.2332C>A" "r.(?)" "p.(Pro778Thr)" "" "0000995311" "00003805" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Ala702Thr)" "" "0001035440" "00003805" "50" "3314" "0" "3314" "0" "c.3314T>C" "r.(?)" "p.(Leu1105Pro)" "" "0001035441" "00003805" "50" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(His852Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000003050" "0000021579" "0000333347" "0000730918"