### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM135) # 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}}" "TMEM135" "transmembrane protein 135" "11" "q14.2" "unknown" "NC_000011.9" "UD_132319513017" "" "https://www.LOVD.nl/TMEM135" "" "1" "26167" "65084" "616360" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-04-03 16:22:26" "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}}" "00000636" "TMEM135" "transcript variant 1" "001" "NM_022918.3" "" "NP_075069.3" "" "" "" "-202" "8878" "1377" "86748886" "87039876" "00000" "2012-09-13 12:42:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "" "" "00228899" "" "" "" "1" "" "03243" "" "" "" "no" "Italy" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00228899" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 01157 ## Count = 3 "{{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}}" "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" "" "" "" "" "" "" "" "0000172851" "00138" "00228899" "03243" "Unknown" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "0000229990" "00228899" "1" "03243" "03243" "2019-03-27 15:03:38" "" "" "arraySEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000229990" "MCM2" "0000229990" "TMEM135" "0000229990" "TRAK2" "0000229990" "UBA1" ## 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}}" "0000002546" "0" "50" "11" "86807017" "86807017" "del" "0" "00037" "TMEM135_000013" "g.86807017del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87095975del" "" "VUS" "" "0000005048" "0" "50" "11" "86805789" "86805789" "subst" "0" "00037" "TMEM135_000012" "g.86805789C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87094747C>A" "" "VUS" "" "0000005049" "0" "50" "11" "86807104" "86807104" "subst" "0" "00037" "TMEM135_000004" "g.86807104C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87096062C>A" "" "VUS" "" "0000010550" "3" "50" "11" "86806279" "86806279" "del" "0" "00037" "TMEM135_000015" "g.86806279del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87095237del" "" "VUS" "" "0000010551" "3" "50" "11" "86807017" "86807017" "del" "0" "00037" "TMEM135_000013" "g.86807017del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87095975del" "" "VUS" "" "0000010552" "3" "50" "11" "86807152" "86807153" "ins" "0" "00037" "TMEM135_000017" "g.86807152_86807153insTAT" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87096110_87096111insTAT" "" "VUS" "" "0000010553" "3" "50" "11" "86807221" "86807221" "dup" "0" "00037" "TMEM135_000016" "g.86807221dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87096179dup" "" "VUS" "" "0000012977" "3" "50" "11" "86805562" "86805562" "subst" "0" "00037" "TMEM135_000010" "g.86805562G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87094520G>A" "" "VUS" "" "0000012978" "3" "50" "11" "86805605" "86805605" "subst" "0" "00037" "TMEM135_000011" "g.86805605A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87094563A>G" "" "VUS" "" "0000012979" "3" "50" "11" "86805885" "86805885" "subst" "0" "00037" "TMEM135_000007" "g.86805885A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87094843A>C" "" "VUS" "" "0000012980" "3" "50" "11" "86806071" "86806071" "subst" "0" "00037" "TMEM135_000008" "g.86806071C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87095029C>G" "" "VUS" "" "0000012981" "3" "50" "11" "86806968" "86806968" "subst" "0" "00037" "TMEM135_000001" "g.86806968A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87095926A>G" "" "VUS" "" "0000012982" "3" "50" "11" "86807104" "86807104" "subst" "0" "00037" "TMEM135_000004" "g.86807104C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87096062C>A" "" "VUS" "" "0000012983" "3" "50" "11" "86807228" "86807228" "subst" "0" "00037" "TMEM135_000006" "g.86807228T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87096186T>A" "" "VUS" "" "0000311868" "0" "10" "11" "86868373" "86868373" "del" "0" "02325" "TMEM135_000019" "g.86868373del" "" "" "" "TMEM135(NM_022918.4):c.397-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87157331del" "" "benign" "" "0000311869" "0" "10" "11" "87013438" "87013438" "subst" "0.618848" "02325" "TMEM135_000020" "g.87013438G>A" "" "" "" "TMEM135(NM_022918.4):c.652G>A (p.G218R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87302396G>A" "" "benign" "" "0000322444" "0" "50" "11" "86782635" "86782635" "subst" "0" "01804" "TMEM135_000018" "g.86782635A>T" "" "" "" "TMEM135(NM_001168724.1):c.340A>T (p.(Ile114Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87071593A>T" "" "VUS" "" "0000471340" "0" "70" "11" "86947711" "86947715" "del" "0" "03243" "TMEM135_000021" "g.86947711_86947715del" "" "" "" "86947710TACATG>T" "" "De novo" "" "" "0" "" "" "g.87236669_87236673del" "" "VUS" "" "0000862738" "0" "50" "11" "86782644" "86782644" "subst" "0" "02327" "TMEM135_000022" "g.86782644G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999534" "0" "50" "11" "87020661" "87020661" "subst" "0.000272493" "01804" "TMEM135_000023" "g.87020661A>G" "" "" "" "TMEM135(NM_022918.3):c.883A>G (p.(Lys295Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038830" "0" "30" "11" "86868373" "86868373" "subst" "1.64078E-5" "01804" "TMEM135_000024" "g.86868373T>A" "" "" "" "TMEM135(NM_022918.4):c.397-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038831" "0" "50" "11" "87032273" "87032273" "subst" "2.44055E-5" "01804" "TMEM135_000025" "g.87032273T>A" "" "" "" "TMEM135(NM_022918.4):c.1275T>A (p.(Asp425Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054031" "0" "50" "11" "87017041" "87017041" "subst" "0" "01804" "TMEM135_000026" "g.87017041C>A" "" "" "" "TMEM135(NM_022918.4):c.762C>A (p.(Cys254*))" "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 TMEM135 ## 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}}" "0000002546" "00000636" "50" "396" "4580" "396" "4580" "c.396+4580del" "r.(=)" "p.(=)" "" "0000005048" "00000636" "50" "396" "3352" "396" "3352" "c.396+3352C>A" "r.(=)" "p.(=)" "" "0000005049" "00000636" "50" "396" "4667" "396" "4667" "c.396+4667C>A" "r.(=)" "p.(=)" "" "0000010550" "00000636" "50" "396" "3842" "396" "3842" "c.396+3842del" "r.(=)" "p.(=)" "" "0000010551" "00000636" "50" "396" "4580" "396" "4580" "c.396+4580del" "r.(=)" "p.(=)" "" "0000010552" "00000636" "50" "396" "4715" "396" "4716" "c.396+4715_396+4716insTAT" "r.(=)" "p.(=)" "" "0000010553" "00000636" "50" "396" "4784" "396" "4784" "c.396+4784dup" "r.(=)" "p.(=)" "" "0000012977" "00000636" "50" "396" "3125" "396" "3125" "c.396+3125G>A" "r.(=)" "p.(=)" "" "0000012978" "00000636" "50" "396" "3168" "396" "3168" "c.396+3168A>G" "r.(=)" "p.(=)" "" "0000012979" "00000636" "50" "396" "3448" "396" "3448" "c.396+3448A>C" "r.(=)" "p.(=)" "" "0000012980" "00000636" "50" "396" "3634" "396" "3634" "c.396+3634C>G" "r.(=)" "p.(=)" "" "0000012981" "00000636" "50" "396" "4531" "396" "4531" "c.396+4531A>G" "r.(=)" "p.(=)" "" "0000012982" "00000636" "50" "396" "4667" "396" "4667" "c.396+4667C>A" "r.(=)" "p.(=)" "" "0000012983" "00000636" "50" "396" "4791" "396" "4791" "c.396+4791T>A" "r.(=)" "p.(=)" "" "0000311868" "00000636" "10" "397" "-10" "397" "-10" "c.397-10del" "r.(=)" "p.(=)" "" "0000311869" "00000636" "10" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Gly218Arg)" "" "0000322444" "00000636" "50" "340" "0" "340" "0" "c.340A>T" "r.(?)" "p.(Ile114Phe)" "" "0000471340" "00000636" "70" "494" "0" "498" "0" "c.494_498del" "r.(494_498del)" "p.(Tyr165Phefs*18)" "6" "0000862738" "00000636" "50" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Glu117Gln)" "" "0000999534" "00000636" "50" "883" "0" "883" "0" "c.883A>G" "r.(?)" "p.(Lys295Glu)" "" "0001038830" "00000636" "30" "397" "-10" "397" "-10" "c.397-10T>A" "r.(=)" "p.(=)" "" "0001038831" "00000636" "50" "1275" "0" "1275" "0" "c.1275T>A" "r.(?)" "p.(Asp425Glu)" "" "0001054031" "00000636" "50" "762" "0" "762" "0" "c.762C>A" "r.(?)" "p.(Cys254*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002546" "0000000209" "0000005048" "0000000209" "0000005049" "0000000210" "0000010550" "0000000210" "0000010551" "0000000210" "0000010552" "0000000210" "0000010553" "0000000210" "0000012977" "0000000210" "0000012978" "0000000210" "0000012979" "0000000210" "0000012980" "0000000210" "0000012981" "0000000210" "0000012982" "0000000210" "0000012983" "0000229990" "0000471340"