### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM98) # 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}}" "TMEM98" "transmembrane protein 98" "17" "q11.2" "unknown" "NC_000017.10" "UD_132463793616" "" "https://www.LOVD.nl/TMEM98" "" "1" "24529" "26022" "615949" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-27 15:59:48" "00006" "2025-12-28 14:58:33" ## 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}}" "00021336" "TMEM98" "transcript variant 1" "001" "NM_015544.2" "" "NP_056359.2" "" "" "" "-458" "1337" "681" "31254928" "31268667" "" "0000-00-00 00:00:00" "" "" ## 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}}" "05036" "NNO4" "nanophthalmos, type 4" "AD" "615972" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2025-12-28 10:47:09" "07223" "NNO" "nanophthalmos" "" "" "" "" "" "00006" "2025-12-28 10:48:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMEM98" "05036" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00471552" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat6" "00471562" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat16" "00471569" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat23" "00471629" "" "" "" "1" "" "00006" "{PMID:Xu 2025:40973198}" "analysisis 105 cases with nanophthalmos" "" "" "China" "" "0" "" "" "" "Pat83" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00471552" "07223" "00471562" "07223" "00471569" "07223" "00471629" "07223" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05036, 07223 ## Count = 4 "{{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}}" "0000356359" "07223" "00471552" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "NNO1" "nanophthalmos" "0000356369" "07223" "00471562" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "nanophthalmos" "0000356376" "07223" "00471569" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "nanophthalmos" "0000356436" "07223" "00471629" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "nanophthalmos" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000473222" "00471552" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473232" "00471562" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473239" "00471569" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473299" "00471629" "1" "00006" "00006" "2025-12-28 14:58:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{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}}" "0000865147" "0" "30" "17" "31258648" "31258648" "subst" "0" "01943" "TMEM98_000001" "g.31258648G>A" "" "" "" "TMEM98(NM_001301746.1):c.102G>A (p.P34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982415" "0" "50" "17" "31266495" "31266495" "subst" "0" "01804" "TMEM98_000002" "g.31266495G>A" "" "" "" "TMEM98(NM_015544.3):c.414G>A (p.(Arg138=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003111" "0" "70" "17" "31261307" "31261307" "subst" "0" "01804" "TMEM98_000003" "g.31261307A>G" "" "" "" "TMEM98(NM_015544.2):c.264-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055955" "0" "30" "17" "31266562" "31266562" "subst" "2.43659E-5" "01804" "TMEM98_000004" "g.31266562C>T" "" "" "" "TMEM98(NM_015544.3):c.473+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062021" "0" "50" "17" "31260323" "31260323" "subst" "0" "00006" "TMEM98_000005" "g.31260323C>T" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.32933305C>T" "" "VUS" "ACMG" "0001062031" "0" "50" "17" "31267929" "31267929" "subst" "0" "00006" "TMEM98_000006" "g.31267929T>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PP3" "Germline" "" "" "0" "" "" "g.32940911T>C" "" "VUS" "ACMG" "0001062038" "0" "50" "17" "31267932" "31267932" "subst" "0" "00006" "TMEM98_000007" "g.31267932G>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PP1_mod" "Germline" "" "" "0" "" "" "g.32940914G>C" "" "VUS" "ACMG" "0001062098" "0" "50" "17" "31267932" "31267932" "subst" "0" "00006" "TMEM98_000007" "g.31267932G>C" "" "{PMID:Xu 2025:40973198}" "" "" "ACMG PM2_sup, PP1_mod" "Germline" "" "" "0" "" "" "g.32940914G>C" "" "VUS" "ACMG" ## 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 TMEM98 ## Count = 8 "{{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}}" "0000865147" "00021336" "30" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Pro34=)" "" "0000982415" "00021336" "50" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(=)" "" "0001003111" "00021336" "70" "264" "-2" "264" "-2" "c.264-2A>G" "r.spl?" "p.?" "" "0001055955" "00021336" "30" "473" "8" "473" "8" "c.473+8C>T" "r.(=)" "p.(=)" "" "0001062021" "00021336" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "4" "0001062031" "00021336" "50" "599" "0" "599" "0" "c.599T>C" "r.(?)" "p.(Leu200Pro)" "8" "0001062038" "00021336" "50" "602" "0" "602" "0" "c.602G>C" "r.(?)" "p.(Arg201Pro)" "8" "0001062098" "00021336" "50" "602" "0" "602" "0" "c.602G>C" "r.(?)" "p.(Arg201Pro)" "8" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000473222" "0001062021" "0000473232" "0001062031" "0000473239" "0001062038" "0000473299" "0001062098"