### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM65B)
# 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}}"
"FAM65B" "family with sequence similarity 65, member B" "6" "p22.3-p21.32" "unknown" "NC_000006.11" "UD_136020020677" "" "https://www.LOVD.nl/RIPOR2" "" "1" "13872" "9750" "611410" "1" "1" "1" "1" "NOTE: gene name changed from FAM65B to RIPOR2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM65B to RIPOR2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-24 10:02:48" "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}}"
"00007454" "FAM65B" "transcript variant 1" "001" "NM_014722.2" "" "NP_055537.2" "" "" "" "-176" "5295" "3207" "24911195" "24804513" "" "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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"04466" "DFNB104" "deafness?, autosomal recessive, type 104 (DFNB104)" "AR" "616515" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2020-06-29 13:36:13"
"05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00"
"05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" ""
"05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"FAM65B" "04466"
"FAM65B" "05400"
"FAM65B" "05458"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{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}}"
"00283287" "" "" "" "1" "" "00006" "{PMID:Diaz-Horta 2014:24958875}" "4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "family"
"00294041" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294042" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00327574" "" "" "" "23" "" "00006" "{PMID:de Bruijn 2021:32631815}" "5-generation family, 23 affected (12F, 11M), 3 unaffected heterozygous carriers" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamW97-056"
"00327575" "" "" "" "23" "" "00006" "{PMID:de Bruijn 2021:32631815}" "5-generation family, 23 affected (12F, 11M), 3 unaffected heterozygous carriers" "F" "no" "Netherlands" "" "0" "" "" "" "W02-016"
"00327576" "" "" "" "10" "" "00006" "{PMID:de Bruijn 2021:32631815}" "4-generation family, 10 affected (6F, 4M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "W04-262"
"00327577" "" "" "" "9" "" "00006" "{PMID:de Bruijn 2021:32631815}" "4-generation family, 9 affected (6F, 3M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "W08-1421"
"00327578" "" "" "" "3" "" "00006" "{PMID:de Bruijn 2021:32631815}" "5-generation family, 3 affected (3F)" "F;M" "no" "Netherlands" "" "0" "" "" "" "W15-1495"
"00327579" "" "" "" "8" "" "00006" "{PMID:de Bruijn 2021:32631815}" "3-generation family, 8 affected (5F, 3M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "W18-0470"
"00327580" "" "" "" "3" "" "00006" "{PMID:de Bruijn 2021:32631815}" "3-generation family, 3 affected (2F, M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "W18-1004"
"00327581" "" "" "" "2" "" "00006" "{PMID:de Bruijn 2021:32631815}" "2-generation family, affected father/daughter" "F;M" "no" "Netherlands" "" "0" "" "" "" "W18-0471"
"00327582" "" "" "" "1" "" "00006" "{PMID:de Bruijn 2021:32631815}" "" "F" "" "Netherlands" "" "0" "" "" "" "W18-0472"
"00327583" "" "" "" "1" "" "00006" "{PMID:de Bruijn 2021:32631815}" "" "F" "" "Netherlands" "" "0" "" "" "" "W18-0473"
"00327584" "" "" "" "1" "" "00006" "{PMID:de Bruijn 2021:32631815}" "" "F" "" "Netherlands" "" "0" "" "" "" "W18-1005"
"00327585" "" "" "" "1" "" "00006" "{PMID:de Bruijn 2021:32631815}" "" "F" "" "Netherlands" "" "0" "" "" "" "W18-1160"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}" "{{diseaseid}}"
"00283287" "05086"
"00294041" "00198"
"00294042" "00198"
"00327574" "05086"
"00327575" "05086"
"00327576" "05086"
"00327577" "05086"
"00327578" "05086"
"00327579" "05086"
"00327580" "05086"
"00327581" "05086"
"00327582" "05086"
"00327583" "05086"
"00327584" "05086"
"00327585" "05086"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04466, 05086, 05400, 05458
## Count = 13
"{{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}}"
"0000218197" "05086" "00283287" "00008" "Familial, autosomal recessive" "" "see paper; ..., nonsyndromic, prelingual, profound hearing loss" "" "" "" "" "" "" "" "" "DFNB104" "hearing loss" ""
"0000245827" "05086" "00327574" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245828" "05086" "00327575" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245829" "05086" "00327576" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245830" "05086" "00327577" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245831" "05086" "00327578" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245832" "05086" "00327579" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245833" "05086" "00327580" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245834" "05086" "00327581" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245835" "05086" "00327582" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245836" "05086" "00327583" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245837" "05086" "00327584" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
"0000245838" "05086" "00327585" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult-onset hearing loss" ""
## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000284437" "00283287" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-06-29 13:34:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000295209" "00294041" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295210" "00294042" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000328789" "00327574" "1" "00006" "00006" "2021-01-24 10:11:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328790" "00327575" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328791" "00327576" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328792" "00327577" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328793" "00327578" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328794" "00327579" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328795" "00327580" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328796" "00327581" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328797" "00327582" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328798" "00327583" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328799" "00327584" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328800" "00327585" "1" "00006" "00006" "2021-01-24 10:47:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000284437" "FAM65B"
## 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 = 34
"{{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}}"
"0000254827" "0" "30" "6" "24843183" "24843183" "subst" "0.00384972" "01943" "FAM65B_000002" "g.24843183A>G" "" "" "" "RIPOR2(NM_014722.4):c.1827T>C (p.N609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24842955A>G" "" "likely benign" ""
"0000276604" "0" "50" "6" "24843306" "24843317" "del" "0" "01943" "FAM65B_000004" "g.24843306_24843317del" "" "" "" "RIPOR2(NM_014722.4):c.1696_1707delCAGCTGGTCAAG (p.Q566_K569del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24843078_24843089del" "" "VUS" ""
"0000276605" "0" "30" "6" "24843190" "24843190" "subst" "0.0010668" "01943" "FAM65B_000003" "g.24843190G>A" "" "" "" "RIPOR2(NM_014722.4):c.1820C>T (p.A607V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24842962G>A" "" "likely benign" ""
"0000276606" "0" "30" "6" "24836090" "24836090" "subst" "0.000862847" "01943" "FAM65B_000001" "g.24836090C>T" "" "" "" "RIPOR2(NM_014722.4):c.2112G>A (p.S704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24835862C>T" "" "likely benign" ""
"0000276607" "0" "50" "6" "24850072" "24850072" "subst" "0.000235642" "01943" "FAM65B_000005" "g.24850072T>C" "" "" "" "RIPOR2(NM_014722.4):c.905A>G (p.N302S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24849844T>C" "" "VUS" ""
"0000350788" "0" "50" "6" "24873188" "24873188" "subst" "0" "02327" "FAM65B_000006" "g.24873188C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24872960C>A" "" "VUS" ""
"0000528116" "0" "30" "6" "24806682" "24806682" "subst" "0.000216743" "01943" "FAM65B_000007" "g.24806682T>G" "" "" "" "RIPOR2(NM_014722.4):c.3126A>C (p.A1042=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24806454T>G" "" "likely benign" ""
"0000528117" "0" "50" "6" "24825528" "24825528" "subst" "1.97506E-5" "01943" "FAM65B_000008" "g.24825528C>T" "" "" "" "RIPOR2(NM_014722.4):c.2857G>A (p.E953K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24825300C>T" "" "VUS" ""
"0000528118" "0" "50" "6" "24830801" "24830801" "subst" "0" "01943" "FAM65B_000009" "g.24830801C>T" "" "" "" "RIPOR2(NM_014722.4):c.2505G>A (p.M835I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24830573C>T" "" "VUS" ""
"0000528119" "0" "50" "6" "24839478" "24839478" "subst" "4.61042E-5" "01943" "FAM65B_000010" "g.24839478C>T" "" "" "" "RIPOR2(NM_014722.4):c.1943G>A (p.S648N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24839250C>T" "" "VUS" ""
"0000528120" "0" "30" "6" "24843126" "24843126" "subst" "0.000314991" "01943" "FAM65B_000011" "g.24843126C>T" "" "" "" "RIPOR2(NM_014722.4):c.1884G>A (p.L628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24842898C>T" "" "likely benign" ""
"0000528125" "0" "50" "6" "24848265" "24848265" "subst" "0.000963047" "01943" "FAM65B_000015" "g.24848265G>C" "" "" "" "RIPOR2(NM_014722.4):c.1065C>G (p.D355E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24848037G>C" "" "VUS" ""
"0000610234" "0" "50" "6" "24806615" "24806615" "subst" "0.000172142" "01943" "FAM65B_000016" "g.24806615C>T" "" "" "" "RIPOR2(NM_014722.4):c.3193G>A (p.A1065T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24806387C>T" "" "VUS" ""
"0000640179" "3" "90" "6" "24874028" "24874028" "subst" "0" "00004" "FAM65B_000017" "g.24874028C>T" "" "{PMID:Diaz-Horta 2014:24958875}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "g.24873800C>T" "" "pathogenic (recessive)" ""
"0000651898" "1" "10" "6" "24848372" "24848372" "subst" "0.0130201" "03575" "FAM65B_000018" "g.24848372C>T" "33/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs35331811}" "Germline" "" "rs35331811" "0" "" "" "g.24848144C>T" "" "benign" ""
"0000651899" "1" "10" "6" "24865659" "24865659" "subst" "0.00663129" "03575" "FAM65B_000019" "g.24865659G>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs11967003}" "Germline" "" "rs11967003" "0" "" "" "g.24865431G>C" "" "benign" ""
"0000677704" "0" "50" "6" "24809980" "24809980" "subst" "0.000132244" "01943" "FAM65B_000020" "g.24809980A>G" "" "" "" "RIPOR2(NM_014722.4):c.3071T>C (p.I1024T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000689691" "0" "50" "6" "25042104" "25042104" "subst" "0" "01943" "FAM65B_000021" "g.25042104G>T" "" "" "" "RIPOR2(NM_001286446.2):c.51C>A (p.D17E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000712886" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712888" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712889" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712890" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712891" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712892" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712893" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712894" "1" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "yes" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712895" "0" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712896" "0" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712897" "0" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000712898" "0" "90" "6" "24843306" "24843317" "del" "0" "00006" "FAM65B_000004" "g.24843306_24843317del" "" "{PMID:de Bruijn 2021:32631815}" "" "" "" "Germline" "" "rs760676508" "0" "" "" "g.24843078_24843089del" "" "pathogenic (dominant)" ""
"0000720814" "0" "30" "6" "24847883" "24847883" "subst" "0.000554668" "01943" "FAM65B_000022" "g.24847883G>A" "" "" "" "RIPOR2(NM_014722.4):c.1114C>T (p.L372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720815" "0" "30" "6" "24873164" "24873164" "subst" "0.00162839" "01943" "FAM65B_000023" "g.24873164G>T" "" "" "" "RIPOR2(NM_014722.4):c.281C>A (p.T94K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948681" "0" "50" "6" "24825658" "24825658" "subst" "0" "02327" "FAM65B_000024" "g.24825658T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995601" "0" "30" "6" "24843466" "24843466" "subst" "8.94607E-5" "01804" "FAM65B_000025" "g.24843466G>T" "" "" "" "FAM65B(NM_001286445.1):c.1481C>A (p.(Pro494Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 FAM65B
## Count = 34
"{{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}}"
"0000254827" "00007454" "30" "1827" "0" "1827" "0" "c.1827T>C" "r.(?)" "p.(Asn609=)" ""
"0000276604" "00007454" "50" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000276605" "00007454" "30" "1820" "0" "1820" "0" "c.1820C>T" "r.(?)" "p.(Ala607Val)" ""
"0000276606" "00007454" "30" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Ser704=)" ""
"0000276607" "00007454" "50" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Asn302Ser)" ""
"0000350788" "00007454" "50" "258" "-1" "258" "-1" "c.258-1G>T" "r.spl?" "p.?" ""
"0000528116" "00007454" "30" "3126" "0" "3126" "0" "c.3126A>C" "r.(?)" "p.(Ala1042=)" ""
"0000528117" "00007454" "50" "2857" "0" "2857" "0" "c.2857G>A" "r.(?)" "p.(Glu953Lys)" ""
"0000528118" "00007454" "50" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Met835Ile)" ""
"0000528119" "00007454" "50" "1943" "0" "1943" "0" "c.1943G>A" "r.(?)" "p.(Ser648Asn)" ""
"0000528120" "00007454" "30" "1884" "0" "1884" "0" "c.1884G>A" "r.(?)" "p.(Leu628=)" ""
"0000528125" "00007454" "50" "1065" "0" "1065" "0" "c.1065C>G" "r.(?)" "p.(Asp355Glu)" ""
"0000610234" "00007454" "50" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Ala1065Thr)" ""
"0000640179" "00007454" "90" "102" "-1" "102" "-1" "c.102-1G>A" "r.102_257del" "p.Arg34_Asp86delinsSer" "0"
"0000651898" "00007454" "10" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Met)" ""
"0000651899" "00007454" "10" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ala145Gly)" ""
"0000677704" "00007454" "50" "3071" "0" "3071" "0" "c.3071T>C" "r.(?)" "p.(Ile1024Thr)" ""
"0000689691" "00007454" "50" "-131085" "0" "-131085" "0" "c.-131085C>A" "r.(?)" "p.(=)" ""
"0000712886" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712888" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712889" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712890" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712891" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712892" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712893" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712894" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712895" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712896" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712897" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000712898" "00007454" "90" "1696" "0" "1707" "0" "c.1696_1707del" "r.(?)" "p.(Gln566_Lys569del)" ""
"0000720814" "00007454" "30" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Leu372=)" ""
"0000720815" "00007454" "30" "281" "0" "281" "0" "c.281C>A" "r.(?)" "p.(Thr94Lys)" ""
"0000948681" "00007454" "50" "2729" "-2" "2729" "-2" "c.2729-2A>G" "r.spl?" "p.?" ""
"0000995601" "00007454" "30" "1544" "0" "1544" "0" "c.1544C>A" "r.(?)" "p.(Pro515Gln)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 15
"{{screeningid}}" "{{variantid}}"
"0000284437" "0000640179"
"0000295209" "0000651898"
"0000295210" "0000651899"
"0000328789" "0000712886"
"0000328790" "0000712888"
"0000328791" "0000712889"
"0000328792" "0000712890"
"0000328793" "0000712891"
"0000328794" "0000712892"
"0000328795" "0000712893"
"0000328796" "0000712894"
"0000328797" "0000712895"
"0000328798" "0000712896"
"0000328799" "0000712897"
"0000328800" "0000712898"