### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM231) # 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}}" "TMEM231" "transmembrane protein 231" "16" "q23.1" "unknown" "NG_033109.1" "UD_136021070486" "" "http://www.LOVD.nl/TMEM231" "" "1" "37234" "79583" "614949" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/TMEM231_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-01-17 17:11:33" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024007" "TMEM231" "transcript variant 1" "003" "NM_001077416.2" "" "NP_001070884.2" "" "" "" "-15" "2987" "1110" "75590184" "75572015" "00006" "2015-01-17 17:10:07" "" "" "00025628" "TMEM231" "transcript variant 2" "001" "NM_001077418.2" "" "NP_001070886.1" "" "" "" "-77" "2828" "951" "75590184" "75572015" "03840" "2021-07-30 13:25:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "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" "01152" "JBTS20" "Joubert syndrome, type 20 (JBTS-20)" "AR" "614970" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03925" "MKS11" "Meckel syndrome, type 11 (MKS-11)" "AR" "615397" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05578" "MKS" "Meckel syndrome (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TMEM231" "00139" "TMEM231" "01152" "TMEM231" "03925" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00028948" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-33 Pat18" "00063264" "" "" "" "1" "" "01581" "" "" "" "" "" "" "0" "" "" "" "" "00063266" "" "" "" "1" "" "01581" "" "" "" "" "" "" "0" "" "" "" "" "00063267" "" "" "" "1" "" "01581" "" "" "" "" "" "" "0" "" "" "" "" "00263972" "" "" "" "1" "" "00552" "" "" "M" "no" "" "" "0" "" "" "European" "" "00309429" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309430" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00363556" "" "" "" "2" "" "00000" "{PMID:Srour 2015:26477546}" "family, 2 affected" "F" "" "Canada" "" "0" "" "" "French-Canadian" "Fam387Pat997,387" "00363557" "" "" "00363556" "1" "" "00000" "{PMID:Srour 2015:26477546}" "relative" "M" "" "Canada" "" "0" "" "" "French-Canadian" "Fam387Pat998,387" "00363558" "" "" "" "1" "" "00000" "{PMID:Srour 2015:26477546}" "" "F" "" "Canada" "" "0" "" "" "French-Canadian" "Fam483Pat1329,483" "00377675" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 65" "F" "" "United States" "" "0" "" "" "" "520" "00377676" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 65" "F" "" "United States" "" "0" "" "" "" "518" "00377677" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 65" "F" "" "United States" "" "0" "" "" "" "519" "00388113" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "518" "00388114" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "519" "00388115" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "520" "00426916" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 22, individual 25" "M" "" "" "" "0" "" "" "" "22_25" "00447613" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "SRP-1226" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00028948" "00002" "00063264" "01152" "00063266" "01152" "00063267" "01152" "00263972" "05578" "00309429" "04214" "00309430" "04214" "00363556" "05109" "00363557" "05109" "00363558" "05109" "00377675" "04214" "00377676" "04214" "00377677" "04214" "00388113" "04214" "00388114" "04214" "00388115" "04214" "00426916" "04214" "00447613" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00002, 00139, 00198, 01152, 03925, 04214, 05109, 05578 ## Count = 18 "{{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}}" "0000025023" "00002" "00028948" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050843" "01152" "00063266" "01581" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050844" "01152" "00063267" "01581" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050845" "01152" "00063264" "01581" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201830" "05578" "00263972" "00552" "Familial, autosomal recessive" "" "enlarged multicystic dysplastic kidneys, occipital encephalocoele" "" "" "" "" "" "" "" "" "" "" "" "0000234749" "04214" "00309429" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000234750" "04214" "00309430" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ciliopathy" "" "0000258906" "05109" "00363556" "00000" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258907" "05109" "00363557" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000258908" "05109" "00363558" "00000" "Familial, autosomal recessive" "5y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272827" "04214" "00377675" "00000" "Familial, autosomal recessive" "" "liver disease, oculomotor apraxia, nystagmus, strabismus" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272828" "04214" "00377676" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus, strabismus, retinal degeneration, vessel attenuation" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272829" "04214" "00377677" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus, strabismus, retinal degeneration, vessel attenuation" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281707" "04214" "00388113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281708" "04214" "00388114" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281709" "04214" "00388115" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000318054" "04214" "00426916" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000336812" "00198" "00447613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000028982" "00028948" "1" "01188" "01188" "2015-01-06 09:08:51" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000063395" "00063264" "1" "01581" "01581" "2016-04-13 20:38:09" "" "" "SEQ" "DNA" "" "" "0000063397" "00063266" "1" "01581" "01581" "2016-04-13 23:01:31" "" "" "SEQ" "DNA" "" "" "0000063398" "00063267" "1" "01581" "01581" "2016-04-13 23:13:03" "" "" "RT-PCR" "RNA" "Blood" "" "0000265084" "00263972" "1" "00552" "00552" "2019-09-03 17:13:22" "" "" "SEQ-NG" "DNA" "" "" "0000310574" "00309429" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310575" "00309430" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000364784" "00363556" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364785" "00363557" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364786" "00363558" "1" "00000" "00006" "2021-04-29 14:27:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378879" "00377675" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378880" "00377676" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378881" "00377677" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000389352" "00388113" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389353" "00388114" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389354" "00388115" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000428236" "00426916" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000449190" "00447613" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000028982" "TMEM231" "0000063395" "TMEM231" "0000063397" "TMEM231" "0000063398" "TMEM231" "0000265084" "TMEM231" "0000310574" "TMEM231" "0000310575" "TMEM231" "0000364784" "TMEM231" "0000364785" "TMEM231" "0000364786" "TMEM231" "0000378879" "TMEM231" "0000378880" "TMEM231" "0000378881" "TMEM231" "0000389352" "TMEM231" "0000389353" "TMEM231" "0000389354" "TMEM231" "0000428236" "NYX" ## 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 = 89 "{{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}}" "0000052290" "3" "70" "16" "75575271" "75575271" "subst" "0" "01188" "TMEM231_000001" "g.75575271G>C" "" "{PMID:Kroes 2016:25920555}" "" "c.747C>G (Ile249Met)" "" "Unknown" "?" "" "0" "" "" "g.75541373G>C" "" "likely pathogenic" "" "0000094348" "21" "90" "16" "75576539" "75576539" "subst" "5.68551E-5" "01581" "TMEM231_000002" "g.75576539C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75542641C>T" "" "pathogenic" "" "0000094349" "0" "70" "16" "75589764" "75589764" "subst" "1.93504E-5" "01581" "TMEM231_000003" "g.75589764A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75555866A>C" "" "likely pathogenic" "" "0000094350" "0" "70" "16" "75576500" "75576581" "del" "0" "01581" "TMEM231_000004" "g.75576500_75576581del" "" "" "" "g.18555_19148conNG_026383.1:2718_3301" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000248237" "0" "10" "16" "75579233" "75579233" "subst" "0.239812" "02325" "TMEM231_000010" "g.75579233A>T" "" "" "" "TMEM231(NM_001077416.2):c.741+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75545335A>T" "" "benign" "" "0000249400" "0" "30" "16" "75589726" "75589726" "subst" "0" "02325" "TMEM231_000017" "g.75589726A>G" "" "" "" "TMEM231(NM_001077416.2):c.444T>C (p.D148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75555828A>G" "" "likely benign" "" "0000250940" "0" "10" "16" "75579233" "75579233" "subst" "0.239812" "02326" "TMEM231_000010" "g.75579233A>T" "" "" "" "TMEM231(NM_001077416.2):c.741+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75545335A>T" "" "benign" "" "0000311875" "0" "10" "16" "75573884" "75573884" "subst" "0.234631" "02325" "TMEM231_000006" "g.75573884T>C" "" "" "" "TMEM231(NR_074083.2):n.1125A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75539986T>C" "" "benign" "" "0000311876" "0" "10" "16" "75590113" "75590113" "subst" "0.218563" "02325" "TMEM231_000020" "g.75590113C>G" "" "" "" "TMEM231(NM_001077416.2):c.57G>C (p.R19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75556215C>G" "" "benign" "" "0000314555" "0" "10" "16" "75573837" "75573837" "subst" "0" "02326" "TMEM231_000005" "g.75573837C>T" "" "" "" "TMEM231(NR_074083.2):n.1172G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75539939C>T" "" "benign" "" "0000314556" "0" "10" "16" "75579247" "75579247" "subst" "0.00415482" "02326" "TMEM231_000012" "g.75579247T>C" "" "" "" "TMEM231(NM_001077416.2):c.741+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75545349T>C" "" "benign" "" "0000314557" "0" "10" "16" "75579242" "75579242" "subst" "0.0321553" "02326" "TMEM231_000011" "g.75579242G>C" "" "" "" "TMEM231(NM_001077416.2):c.741+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75545344G>C" "" "benign" "" "0000316684" "0" "50" "16" "75589928" "75589928" "subst" "0" "01943" "TMEM231_000019" "g.75589928G>C" "" "" "" "TMEM231(NM_001077416.2):c.242C>G (p.A81G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75556030G>C" "" "VUS" "" "0000316685" "0" "30" "16" "75579763" "75579763" "subst" "4.6277E-5" "01943" "TMEM231_000016" "g.75579763G>A" "" "" "" "TMEM231(NM_001077416.2):c.558C>T (p.L186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75545865G>A" "" "likely benign" "" "0000316686" "0" "50" "16" "75579723" "75579723" "subst" "2.1046E-5" "01943" "TMEM231_000015" "g.75579723C>T" "" "" "" "TMEM231(NM_001077416.2):c.597+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75545825C>T" "" "VUS" "" "0000324907" "0" "50" "16" "75573899" "75573899" "subst" "8.23147E-6" "01804" "TMEM231_000007" "g.75573899A>C" "" "" "" "TMEM231(NM_001077416.1):c.1031T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75540001A>C" "" "VUS" "" "0000324908" "0" "50" "16" "75573915" "75573915" "subst" "0.00172193" "01804" "TMEM231_000008" "g.75573915A>C" "" "" "" "TMEM231(NM_001077416.1):c.1087T>G (p.(Leu363Val)), TMEM231(NM_001077416.2):c.1087T>G (p.L363V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75540017A>C" "" "VUS" "" "0000324911" "0" "50" "16" "75573916" "75573916" "subst" "0.00173373" "01804" "TMEM231_000009" "g.75573916G>T" "" "" "" "TMEM231(NM_001077416.1):c.1086C>A (p.(Asp362Glu)), TMEM231(NM_001077416.2):c.1086C>A (p.D362E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75540018G>T" "" "VUS" "" "0000559116" "0" "30" "16" "75575299" "75575299" "subst" "0.000375857" "01804" "TMEM231_000021" "g.75575299T>C" "" "" "" "TMEM231(NM_001077416.1):c.878A>G (p.(Asp293Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75541401T>C" "" "likely benign" "" "0000559117" "0" "50" "16" "75575308" "75575308" "subst" "0.00108626" "01943" "TMEM231_000022" "g.75575308C>G" "" "" "" "TMEM231(NM_001077416.2):c.869G>C (p.R290T), TMEM231(NM_001077418.3):c.710G>C (p.(Arg237Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75541410C>G" "" "VUS" "" "0000559118" "0" "50" "16" "75575308" "75575308" "subst" "0.00108626" "02327" "TMEM231_000022" "g.75575308C>G" "" "" "" "TMEM231(NM_001077416.2):c.869G>C (p.R290T), TMEM231(NM_001077418.3):c.710G>C (p.(Arg237Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75541410C>G" "" "VUS" "" "0000559119" "0" "30" "16" "75576533" "75576533" "subst" "2.03054E-5" "01804" "TMEM231_000023" "g.75576533T>A" "" "" "" "TMEM231(NM_001077416.1):c.790A>T (p.(Thr264Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75542635T>A" "" "likely benign" "" "0000559121" "0" "30" "16" "75579250" "75579250" "subst" "0.000154732" "01943" "TMEM231_000024" "g.75579250G>A" "" "" "" "TMEM231(NM_001077418.3):c.582C>T (p.N194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75545352G>A" "" "likely benign" "" "0000559122" "0" "50" "16" "75579362" "75579362" "subst" "0.000560762" "01943" "TMEM231_000013" "g.75579362G>A" "" "" "" "TMEM231(NM_001077416.2):c.629C>T (p.A210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75545464G>A" "" "VUS" "" "0000559124" "0" "90" "16" "75589753" "75589753" "dup" "0" "01943" "TMEM231_000025" "g.75589753dup" "" "" "" "TMEM231(NM_001077416.2):c.420dupC (p.A141Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75555855dup" "" "pathogenic" "" "0000559125" "0" "50" "16" "75589757" "75589757" "subst" "0" "02327" "TMEM231_000026" "g.75589757G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75555859G>A" "" "VUS" "" "0000559126" "0" "90" "16" "75589922" "75589922" "subst" "0.000207689" "01943" "TMEM231_000027" "g.75589922G>T" "" "" "" "TMEM231(NM_001077416.2):c.248C>A (p.S83*, p.(Ser83*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556024G>T" "" "pathogenic" "" "0000559127" "0" "30" "16" "75590013" "75590013" "subst" "0.000302491" "01804" "TMEM231_000028" "g.75590013G>A" "" "" "" "TMEM231(NM_001077416.1):c.157C>T (p.(Arg53Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556115G>A" "" "likely benign" "" "0000559128" "0" "50" "16" "75590048" "75590048" "subst" "0" "01943" "TMEM231_000029" "g.75590048G>A" "" "" "" "TMEM231(NM_001077416.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556150G>A" "" "VUS" "" "0000559129" "0" "30" "16" "75590101" "75590101" "subst" "0.000110202" "01804" "TMEM231_000030" "g.75590101G>C" "" "" "" "TMEM231(NM_001077416.1):c.69C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556203G>C" "" "likely benign" "" "0000559130" "0" "90" "16" "75590108" "75590108" "subst" "0" "01943" "TMEM231_000031" "g.75590108G>C" "" "" "" "TMEM231(NM_001077416.2):c.62C>G (p.S21*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556210G>C" "" "pathogenic" "" "0000559131" "0" "30" "16" "75590122" "75590122" "subst" "0.00101867" "01943" "TMEM231_000032" "g.75590122G>A" "" "" "" "TMEM231(NM_001077416.2):c.48C>T (p.A16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556224G>A" "" "likely benign" "" "0000595667" "0" "90" "16" "75575247" "75575247" "subst" "8.27725E-6" "00552" "TMEM231_000033" "g.75575247T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75541349T>C" "" "likely pathogenic" "" "0000595668" "0" "90" "16" "75576571" "75576582" "delins" "0" "00552" "TMEM231_000034" "g.75576571_75576582delinsGTCACAGATACT" "" "AGTATCTGTGAC" "" "" "exon 4 gene conversion from downstream pseudogene; c.742-1G>A, c.742A>G, c.747C>T and c.752T>C" "Germline" "" "" "0" "" "" "g.75542673_75542684delinsGTCACAGATACT" "" "pathogenic" "" "0000616134" "0" "30" "16" "75573915" "75573915" "subst" "0.00172193" "01943" "TMEM231_000008" "g.75573915A>C" "" "" "" "TMEM231(NM_001077416.1):c.1087T>G (p.(Leu363Val)), TMEM231(NM_001077416.2):c.1087T>G (p.L363V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75540017A>C" "" "likely benign" "" "0000616135" "0" "30" "16" "75573916" "75573916" "subst" "0.00173373" "01943" "TMEM231_000009" "g.75573916G>T" "" "" "" "TMEM231(NM_001077416.1):c.1086C>A (p.(Asp362Glu)), TMEM231(NM_001077416.2):c.1086C>A (p.D362E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75540018G>T" "" "likely benign" "" "0000616136" "0" "50" "16" "75589979" "75589979" "subst" "0.000510037" "01943" "TMEM231_000035" "g.75589979G>A" "" "" "" "TMEM231(NM_001077416.2):c.191C>T (p.S64F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75556081G>A" "" "VUS" "" "0000680660" "0" "50" "16" "75576580" "75576580" "subst" "0.000235677" "01943" "TMEM231_000036" "g.75576580A>G" "" "" "" "TMEM231(NM_001077418.3):c.584T>C (p.I195T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680661" "0" "30" "16" "75579283" "75579283" "subst" "3.26044E-5" "01943" "TMEM231_000037" "g.75579283C>T" "" "" "" "TMEM231(NM_001077418.3):c.549G>A (p.P183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685485" "0" "90" "16" "75579810" "75579810" "subst" "0" "00004" "TMEM231_000038" "g.75579810A>C" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685486" "0" "70" "16" "75589770" "75589770" "subst" "0" "00004" "TMEM231_000039" "g.75589770G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000725966" "0" "30" "16" "75579775" "75579775" "subst" "2.17571E-5" "01943" "TMEM231_000040" "g.75579775C>T" "" "" "" "TMEM231(NM_001077418.3):c.387G>A (p.T129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725967" "0" "50" "16" "75589845" "75589845" "subst" "4.4087E-5" "01943" "TMEM231_000041" "g.75589845C>G" "" "" "" "TMEM231(NM_001077418.3):c.166G>C (p.E56Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765691" "21" "90" "16" "75590096" "75590096" "subst" "0" "00000" "TMEM231_000042" "g.75590096A>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001077418.1:c.12T>A (Tyr4*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765692" "21" "90" "16" "75590096" "75590096" "subst" "0" "00000" "TMEM231_000042" "g.75590096A>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001077418.1:c.12T>A (Tyr4*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765693" "11" "90" "16" "75590096" "75590096" "subst" "0" "00000" "TMEM231_000042" "g.75590096A>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001077418.1:c.12T>A (Tyr4*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765732" "11" "90" "16" "75576539" "75576539" "subst" "5.68551E-5" "00000" "TMEM231_000002" "g.75576539C>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001077418.1:c.625G>A (Asp209Asn)" "" "Germline" "" "rs200799769" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765733" "11" "90" "16" "75576539" "75576539" "subst" "5.68551E-5" "00000" "TMEM231_000002" "g.75576539C>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001077418.1:c.625G>A (Asp209Asn)" "" "Germline" "" "rs200799769" "0" "" "" "" "" "pathogenic (recessive)" "" "0000765734" "21" "90" "16" "75576539" "75576539" "subst" "5.68551E-5" "00000" "TMEM231_000002" "g.75576539C>T" "" "{PMID:Srour 2015:26477546}" "" "NM_001077418.1:c.625G>A (Asp209Asn)" "" "Germline" "" "rs200799769" "0" "" "" "" "" "pathogenic (recessive)" "" "0000791785" "0" "70" "16" "75576539" "75576539" "subst" "5.68551E-5" "00000" "TMEM231_000002" "g.75576539C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.712G>A; p.D238N" "different transcript: NM_001077416.1(TMEM231):c.712G>A" "Germline" "?" "" "0" "" "" "g.75542641C>T" "" "likely pathogenic" "" "0000791786" "0" "70" "16" "75576539" "75576539" "subst" "5.68551E-5" "00000" "TMEM231_000002" "g.75576539C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.712G>A; p.D238N" "different transcript: NM_001077416.1(TMEM231):c.712G>A" "Germline" "?" "" "0" "" "" "g.75542641C>T" "" "likely pathogenic" "" "0000791787" "0" "70" "16" "75576539" "75576539" "subst" "5.68551E-5" "00000" "TMEM231_000002" "g.75576539C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.712G>A; p.D238N" "different transcript: NM_001077416.1(TMEM231):c.712G>A" "Germline" "?" "" "0" "" "" "g.75542641C>T" "" "likely pathogenic" "" "0000791870" "0" "70" "16" "75574073" "75574073" "subst" "4.1338E-6" "00000" "TMEM231_000043" "g.75574073G>C" "" "{PMID:Brooks 2018:30055837}" "" "c.858-1C>G" "different transcript: NM_001077416.1(TMEM231):c.858-1C>G" "Germline" "?" "" "0" "" "" "g.75540175G>C" "" "likely pathogenic" "" "0000791871" "0" "70" "16" "75574073" "75574073" "subst" "4.1338E-6" "00000" "TMEM231_000043" "g.75574073G>C" "" "{PMID:Brooks 2018:30055837}" "" "c.858-1C>G" "different transcript: NM_001077416.1(TMEM231):c.858-1C>G" "Germline" "?" "" "0" "" "" "g.75540175G>C" "" "likely pathogenic" "" "0000791872" "0" "70" "16" "75574073" "75574073" "subst" "4.1338E-6" "00000" "TMEM231_000043" "g.75574073G>C" "" "{PMID:Brooks 2018:30055837}" "" "c.858-1C>G" "different transcript: NM_001077416.1(TMEM231):c.858-1C>G" "Germline" "?" "" "0" "" "" "g.75540175G>C" "" "likely pathogenic" "" "0000807592" "0" "70" "16" "75590132" "75590132" "subst" "0" "02326" "TMEM231_000044" "g.75590132G>T" "" "" "" "TMEM231(NM_001077416.2):c.38C>A (p.S13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000818337" "0" "90" "16" "75579279" "75579279" "subst" "0" "00000" "TMEM231_000002" "g.75579279C>T" "" "{PMID:Summers 2017:28497568}" "" "c.712G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818338" "0" "90" "16" "0" "0" "" "0" "00000" "TMEM231_000045" "g.?" "" "{PMID:Summers 2017:28497568}" "" "g.18555_19148conNG_026383.1:g.2718_3301" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818339" "0" "90" "16" "75579279" "75579279" "subst" "0" "00000" "TMEM231_000002" "g.75579279C>T" "" "{PMID:Summers 2017:28497568}" "" "c.712G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818340" "0" "90" "16" "0" "0" "" "0" "00000" "TMEM231_000045" "g.?" "" "{PMID:Summers 2017:28497568}" "" "g.18555_19148conNG_026383.1:g.2718_3301" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818341" "0" "90" "16" "75579279" "75579279" "subst" "0" "00000" "TMEM231_000002" "g.75579279C>T" "" "{PMID:Summers 2017:28497568}" "" "c.712G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818342" "0" "90" "16" "0" "0" "" "0" "00000" "TMEM231_000045" "g.?" "" "{PMID:Summers 2017:28497568}" "" "g.18555_19148conNG_026383.1:g.2718_3301" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000854638" "0" "50" "16" "75574052" "75574052" "subst" "0.000535805" "01943" "TMEM231_000047" "g.75574052T>G" "" "" "" "TMEM231(NM_001077418.3):c.791A>C (p.E264A, p.(Glu264Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854639" "0" "30" "16" "75579711" "75579711" "subst" "7.61982E-5" "02326" "TMEM231_000049" "g.75579711C>T" "" "" "" "TMEM231(NM_001077416.2):c.597+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854640" "0" "30" "16" "75589777" "75589777" "subst" "0" "01943" "TMEM231_000050" "g.75589777G>A" "" "" "" "TMEM231(NM_001077418.3):c.234C>T (p.D78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854641" "0" "30" "16" "75590122" "75590122" "subst" "0.00101867" "02326" "TMEM231_000032" "g.75590122G>A" "" "" "" "TMEM231(NM_001077416.2):c.48C>T (p.A16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864933" "0" "10" "16" "75573952" "75573952" "subst" "0.00758457" "02329" "TMEM231_000046" "g.75573952C>T" "" "" "" "TMEM231(NM_001077418.3):c.891G>A (p.V297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864934" "0" "30" "16" "75579361" "75579361" "subst" "0.000232608" "01943" "TMEM231_000048" "g.75579361C>T" "" "" "" "TMEM231(NM_001077418.3):c.471G>A (p.A157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864935" "0" "10" "16" "75589834" "75589834" "subst" "0.00284427" "02326" "TMEM231_000051" "g.75589834C>G" "" "" "" "TMEM231(NM_001077416.2):c.336G>C (p.P112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893176" "0" "50" "16" "75579762" "75579762" "subst" "7.83134E-6" "02325" "TMEM231_000052" "g.75579762C>T" "" "" "" "TMEM231(NM_001077416.2):c.559G>A (p.G187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893177" "0" "30" "16" "75589689" "75589689" "subst" "0.000393442" "02326" "TMEM231_000053" "g.75589689G>T" "" "" "" "TMEM231(NM_001077416.2):c.468+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893178" "0" "50" "16" "75589886" "75589886" "subst" "0.000602432" "02325" "TMEM231_000054" "g.75589886G>A" "" "" "" "TMEM231(NM_001077416.2):c.284C>T (p.A95V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905897" "0" "70" "16" "75589922" "75589922" "subst" "0.000207689" "00000" "TMEM231_000027" "g.75589922G>T" "" "{PMID:Zhu 2022:35456422}" "" "TMEM231 c.248C>A, p.(Ser83*)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.75556024G>T" "" "likely pathogenic" "ACMG" "0000930654" "0" "30" "16" "75575308" "75575308" "subst" "0.00108626" "02326" "TMEM231_000022" "g.75575308C>G" "" "" "" "TMEM231(NM_001077416.2):c.869G>C (p.R290T), TMEM231(NM_001077418.3):c.710G>C (p.(Arg237Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930655" "0" "30" "16" "75589899" "75589899" "subst" "0.00203783" "02326" "TMEM231_000055" "g.75589899G>C" "" "" "" "TMEM231(NM_001077416.2):c.271C>G (p.R91G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950730" "0" "30" "16" "75579362" "75579362" "subst" "0.000560762" "02326" "TMEM231_000013" "g.75579362G>A" "" "" "" "TMEM231(NM_001077416.2):c.629C>T (p.A210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958957" "0" "50" "16" "75576496" "75576496" "subst" "6.4981E-5" "00006" "TMEM231_000057" "g.75576496T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.75542598T>C" "" "VUS" "ACMG" "0000959397" "0" "50" "16" "75573981" "75573981" "subst" "0" "00006" "TMEM231_000056" "g.75573981T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.75540083T>C" "" "VUS" "ACMG" "0000968517" "0" "30" "16" "75573823" "75573823" "subst" "0" "01804" "TMEM231_000058" "g.75573823T>A" "" "" "" "TMEM231(NM_001077418.1):c.*69A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968518" "0" "30" "16" "75589749" "75589749" "subst" "0" "02326" "TMEM231_000018" "g.75589749C>T" "" "" "" "TMEM231(NM_001077416.2):c.421G>A (p.A141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982079" "0" "50" "16" "75590018" "75590018" "subst" "0" "01804" "TMEM231_000059" "g.75590018G>A" "" "" "" "TMEM231(NM_001077416.2):c.152C>T (p.(Pro51Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041352" "0" "50" "16" "75574019" "75574019" "subst" "2.0351E-5" "01804" "TMEM231_000060" "g.75574019C>G" "" "" "" "TMEM231(NM_001077418.3):c.824G>C (p.(Ser275Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041353" "0" "50" "16" "75574052" "75574052" "subst" "0.000535805" "01804" "TMEM231_000047" "g.75574052T>G" "" "" "" "TMEM231(NM_001077418.3):c.791A>C (p.E264A, p.(Glu264Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041354" "0" "30" "16" "75575308" "75575308" "subst" "0.00108626" "01804" "TMEM231_000022" "g.75575308C>G" "" "" "" "TMEM231(NM_001077416.2):c.869G>C (p.R290T), TMEM231(NM_001077418.3):c.710G>C (p.(Arg237Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041355" "0" "70" "16" "75589922" "75589922" "subst" "0.000207689" "01804" "TMEM231_000027" "g.75589922G>T" "" "" "" "TMEM231(NM_001077416.2):c.248C>A (p.S83*, p.(Ser83*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041356" "0" "50" "16" "75590143" "75590143" "subst" "0" "01804" "TMEM231_000061" "g.75590143C>T" "" "" "" "TMEM231(NM_001077416.2):c.27G>A (p.(Trp9*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055670" "0" "50" "16" "75573972" "75573972" "subst" "2.84634E-5" "01804" "TMEM231_000062" "g.75573972C>T" "" "" "" "TMEM231(NM_001077418.3):c.871G>A (p.(Val291Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055671" "0" "90" "16" "75579789" "75579789" "subst" "5.66693E-5" "01804" "TMEM231_000063" "g.75579789G>C" "" "" "" "TMEM231(NM_001077418.3):c.373C>G (p.(Pro125Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055672" "0" "50" "16" "75589712" "75589712" "subst" "0" "01804" "TMEM231_000064" "g.75589712G>A" "" "" "" "TMEM231(NM_001077418.3):c.299C>T (p.(Pro100Leu))" "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 TMEM231 ## Count = 164 "{{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}}" "0000052290" "00025628" "70" "747" "0" "747" "0" "c.747C>G" "r.(?)" "p.(Ile249Met)" "" "0000052290" "00024007" "70" "906" "0" "906" "0" "c.906C>G" "r.(?)" "p.(Ile302Met)" "5" "0000094348" "00025628" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" "" "0000094348" "00024007" "90" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "4" "0000094349" "00025628" "70" "247" "0" "247" "0" "c.247T>G" "r.(?)" "p.(Trp83Gly)" "" "0000094349" "00024007" "70" "406" "0" "406" "0" "c.406T>G" "r.(?)" "p.(Trp136Gly)" "1" "0000094350" "00025628" "70" "583" "0" "664" "0" "c.583_664del" "r.(?)" "p.(Ile195Leufs*5)" "" "0000094350" "00024007" "70" "742" "-1" "823" "1" "c.(741+1_742-1)_(823+1_824-1)del" "r.(?)" "p.(Ile248Leufs*5)" "3i_4i" "0000248237" "00025628" "10" "582" "17" "582" "17" "c.582+17T>A" "r.(=)" "p.(=)" "" "0000248237" "00024007" "10" "741" "17" "741" "17" "c.741+17T>A" "r.(=)" "p.(=)" "" "0000249400" "00025628" "30" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Asp95=)" "" "0000249400" "00024007" "30" "444" "0" "444" "0" "c.444T>C" "r.(?)" "p.(Asp148=)" "" "0000250940" "00025628" "10" "582" "17" "582" "17" "c.582+17T>A" "r.(=)" "p.(=)" "" "0000250940" "00024007" "10" "741" "17" "741" "17" "c.741+17T>A" "r.(=)" "p.(=)" "" "0000311875" "00025628" "10" "959" "0" "959" "0" "c.*8A>G" "r.(=)" "p.(=)" "" "0000311875" "00024007" "10" "1118" "0" "1118" "0" "c.*8A>G" "r.(=)" "p.(=)" "" "0000311876" "00025628" "10" "-6" "0" "-6" "0" "c.-6G>C" "r.(?)" "p.(=)" "" "0000311876" "00024007" "10" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Arg19=)" "" "0000314555" "00025628" "10" "1006" "0" "1006" "0" "c.*55G>A" "r.(=)" "p.(=)" "" "0000314555" "00024007" "10" "1165" "0" "1165" "0" "c.*55G>A" "r.(=)" "p.(=)" "" "0000314556" "00025628" "10" "582" "3" "582" "3" "c.582+3A>G" "r.spl?" "p.?" "" "0000314556" "00024007" "10" "741" "3" "741" "3" "c.741+3A>G" "r.spl?" "p.?" "" "0000314557" "00025628" "10" "582" "8" "582" "8" "c.582+8C>G" "r.(=)" "p.(=)" "" "0000314557" "00024007" "10" "741" "8" "741" "8" "c.741+8C>G" "r.(=)" "p.(=)" "" "0000316684" "00025628" "50" "139" "41" "139" "41" "c.139+41C>G" "r.(=)" "p.(=)" "" "0000316684" "00024007" "50" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Ala81Gly)" "" "0000316685" "00025628" "30" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Leu133=)" "" "0000316685" "00024007" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Leu186=)" "" "0000316686" "00025628" "50" "438" "1" "438" "1" "c.438+1G>A" "r.spl?" "p.?" "" "0000316686" "00024007" "50" "597" "1" "597" "1" "c.597+1G>A" "r.spl?" "p.?" "" "0000324907" "00025628" "50" "944" "0" "944" "0" "c.944T>G" "r.(?)" "p.(Leu315Ter)" "" "0000324907" "00024007" "50" "1103" "0" "1103" "0" "c.1103T>G" "r.(?)" "p.(Leu368Ter)" "" "0000324908" "00025628" "50" "928" "0" "928" "0" "c.928T>G" "r.(?)" "p.(Leu310Val)" "" "0000324908" "00024007" "50" "1087" "0" "1087" "0" "c.1087T>G" "r.(?)" "p.(Leu363Val)" "" "0000324911" "00025628" "50" "927" "0" "927" "0" "c.927C>A" "r.(?)" "p.(Asp309Glu)" "" "0000324911" "00024007" "50" "1086" "0" "1086" "0" "c.1086C>A" "r.(?)" "p.(Asp362Glu)" "" "0000559116" "00025628" "30" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(Asp240Gly)" "" "0000559116" "00024007" "30" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Asp293Gly)" "" "0000559117" "00025628" "50" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Arg237Thr)" "" "0000559117" "00024007" "50" "869" "0" "869" "0" "c.869G>C" "r.(?)" "p.(Arg290Thr)" "" "0000559118" "00025628" "50" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Arg237Thr)" "" "0000559118" "00024007" "50" "869" "0" "869" "0" "c.869G>C" "r.(?)" "p.(Arg290Thr)" "" "0000559119" "00025628" "30" "631" "0" "631" "0" "c.631A>T" "r.(?)" "p.(Thr211Ser)" "" "0000559119" "00024007" "30" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Thr264Ser)" "" "0000559121" "00025628" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Asn194=)" "" "0000559121" "00024007" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Asn247=)" "" "0000559122" "00025628" "50" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000559122" "00024007" "50" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" "0000559124" "00025628" "90" "261" "0" "261" "0" "c.261dup" "r.(?)" "p.(Ala88ArgfsTer18)" "" "0000559124" "00024007" "90" "420" "0" "420" "0" "c.420dup" "r.(?)" "p.(Ala141ArgfsTer18)" "" "0000559125" "00025628" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Thr85Met)" "" "0000559125" "00024007" "50" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Thr138Met)" "" "0000559126" "00025628" "90" "139" "47" "139" "47" "c.139+47C>A" "r.(=)" "p.(=)" "" "0000559126" "00024007" "90" "248" "0" "248" "0" "c.248C>A" "r.(?)" "p.(Ser83Ter)" "" "0000559127" "00025628" "30" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ala32Val)" "" "0000559127" "00024007" "30" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Cys)" "" "0000559128" "00025628" "50" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Cys20=)" "" "0000559128" "00024007" "50" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ala41Val)" "" "0000559129" "00025628" "30" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Leu3Val)" "" "0000559129" "00024007" "30" "69" "0" "69" "0" "c.69C>G" "r.(?)" "p.(Arg23=)" "" "0000559130" "00025628" "90" "-1" "0" "-1" "0" "c.-1C>G" "r.(?)" "p.(=)" "" "0000559130" "00024007" "90" "62" "0" "62" "0" "c.62C>G" "r.(?)" "p.(Ser21Ter)" "" "0000559131" "00025628" "30" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000559131" "00024007" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Ala16=)" "" "0000595667" "00025628" "90" "770" "1" "770" "1" "c.770+1A>G" "r.spl?" "p.?" "" "0000595667" "00024007" "90" "929" "1" "929" "1" "c.929+1A>G" "r.spl" "p.?" "" "0000595668" "00025628" "90" "583" "-1" "593" "0" "c.583-1_593delinsAGTATCTGTGAC" "r.spl?" "p.?" "" "0000595668" "00024007" "90" "742" "-1" "752" "0" "c.742-1_752delinsAGTATCTGTGAC" "r.spl" "p.?" "3i_4" "0000616134" "00025628" "30" "928" "0" "928" "0" "c.928T>G" "r.(?)" "p.(Leu310Val)" "" "0000616134" "00024007" "30" "1087" "0" "1087" "0" "c.1087T>G" "r.(?)" "p.(Leu363Val)" "" "0000616135" "00025628" "30" "927" "0" "927" "0" "c.927C>A" "r.(?)" "p.(Asp309Glu)" "" "0000616135" "00024007" "30" "1086" "0" "1086" "0" "c.1086C>A" "r.(?)" "p.(Asp362Glu)" "" "0000616136" "00025628" "50" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Phe43=)" "" "0000616136" "00024007" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ser64Phe)" "" "0000680660" "00025628" "50" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Ile195Thr)" "" "0000680660" "00024007" "50" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Ile248Thr)" "" "0000680661" "00025628" "30" "549" "0" "549" "0" "c.549G>A" "r.(?)" "p.(Pro183=)" "" "0000680661" "00024007" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Pro236=)" "" "0000685485" "00025628" "90" "352" "0" "352" "0" "c.352T>G" "r.(?)" "p.(Leu118Val)" "" "0000685485" "00024007" "90" "511" "0" "511" "0" "c.511T>G" "r.(?)" "p.(Leu171Val)" "" "0000685486" "00025628" "70" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Leu81Phe)" "" "0000685486" "00024007" "70" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Leu134Phe)" "" "0000725966" "00025628" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Thr129=)" "" "0000725966" "00024007" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Thr182=)" "" "0000725967" "00025628" "50" "166" "0" "166" "0" "c.166G>C" "r.(?)" "p.(Glu56Gln)" "" "0000725967" "00024007" "50" "325" "0" "325" "0" "c.325G>C" "r.(?)" "p.(Glu109Gln)" "" "0000765691" "00025628" "90" "12" "0" "12" "0" "c.12T>A" "r.(?)" "p.(Tyr4*)" "" "0000765691" "00024007" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000765692" "00025628" "90" "12" "0" "12" "0" "c.12T>A" "r.(?)" "p.(Tyr4*)" "" "0000765692" "00024007" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000765693" "00025628" "90" "12" "0" "12" "0" "c.12T>A" "r.(?)" "p.(Tyr4*)" "" "0000765693" "00024007" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000765732" "00025628" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" "" "0000765732" "00024007" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "" "0000765733" "00025628" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" "" "0000765733" "00024007" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "" "0000765734" "00025628" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" "" "0000765734" "00024007" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "" "0000791785" "00024007" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "" "0000791786" "00024007" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "" "0000791787" "00024007" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "" "0000791870" "00024007" "70" "930" "-1" "930" "-1" "c.930-1C>G" "r.spl" "p.(?)" "" "0000791871" "00024007" "70" "930" "-1" "930" "-1" "c.930-1C>G" "r.spl" "p.(?)" "" "0000791872" "00024007" "70" "930" "-1" "930" "-1" "c.930-1C>G" "r.spl" "p.(?)" "" "0000807592" "00025628" "70" "-25" "0" "-25" "0" "c.-25C>A" "r.(?)" "p.(=)" "" "0000807592" "00024007" "70" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Ser13*)" "" "0000818337" "00024007" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "3" "0000818338" "00024007" "90" "18555" "" "19148" "" "g.18555_19148conNG_026383.1:g.2718_3301" "r.(=)" "p.(=)" "0" "0000818339" "00024007" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "3" "0000818340" "00024007" "90" "18555" "" "19148" "" "g.18555_19148conNG_026383.1:g.2718_3301" "r.(=)" "p.(=)" "0" "0000818341" "00024007" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "3" "0000818342" "00024007" "90" "18555" "" "19148" "" "g.18555_19148conNG_026383.1:g.2718_3301" "r.(=)" "p.(=)" "0" "0000854638" "00025628" "50" "791" "0" "791" "0" "c.791A>C" "r.(?)" "p.(Glu264Ala)" "" "0000854638" "00024007" "50" "950" "0" "950" "0" "c.950A>C" "r.(?)" "p.(Glu317Ala)" "" "0000854639" "00025628" "30" "438" "13" "438" "13" "c.438+13G>A" "r.(=)" "p.(=)" "" "0000854639" "00024007" "30" "597" "13" "597" "13" "c.597+13G>A" "r.(=)" "p.(=)" "" "0000854640" "00025628" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Asp78=)" "" "0000854640" "00024007" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asp131=)" "" "0000854641" "00025628" "30" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000854641" "00024007" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Ala16=)" "" "0000864933" "00025628" "10" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(=)" "" "0000864933" "00024007" "10" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Val350=)" "" "0000864934" "00025628" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Ala157=)" "" "0000864934" "00024007" "30" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Ala210=)" "" "0000864935" "00025628" "10" "177" "0" "177" "0" "c.177G>C" "r.(?)" "p.(=)" "" "0000864935" "00024007" "10" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Pro112=)" "" "0000893176" "00025628" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Ser)" "" "0000893176" "00024007" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "" "0000893177" "00025628" "30" "309" "13" "309" "13" "c.309+13C>A" "r.(=)" "p.(=)" "" "0000893177" "00024007" "30" "468" "13" "468" "13" "c.468+13C>A" "r.(=)" "p.(=)" "" "0000893178" "00025628" "50" "140" "-15" "140" "-15" "c.140-15C>T" "r.(=)" "p.(=)" "" "0000893178" "00024007" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Ala95Val)" "" "0000905897" "00025628" "70" "139" "47" "139" "47" "c.139+47C>A" "r.(=)" "p.(=)" "" "0000905897" "00024007" "70" "248" "0" "248" "0" "c.248C>A" "r.(?)" "p.(Ser83*)" "" "0000930654" "00025628" "30" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Arg237Thr)" "" "0000930654" "00024007" "30" "869" "0" "869" "0" "c.869G>C" "r.(?)" "p.(Arg290Thr)" "" "0000930655" "00025628" "30" "140" "-28" "140" "-28" "c.140-28C>G" "r.(=)" "p.(=)" "" "0000930655" "00024007" "30" "271" "0" "271" "0" "c.271C>G" "r.(?)" "p.(Arg91Gly)" "" "0000950730" "00025628" "30" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ala157Val)" "" "0000950730" "00024007" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" "0000958957" "00024007" "50" "823" "4" "823" "4" "c.823+4A>G" "r.spl?" "p.?" "" "0000959397" "00024007" "50" "949" "0" "949" "0" "c.949A>G" "r.(?)" "p.(Lys288Glu)" "" "0000968517" "00025628" "30" "1020" "0" "1020" "0" "c.*69A>T" "r.(=)" "p.(=)" "" "0000968517" "00024007" "30" "1179" "0" "1179" "0" "c.*69A>T" "r.(=)" "p.(=)" "" "0000968518" "00025628" "30" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Ala88Thr)" "" "0000968518" "00024007" "30" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000982079" "00025628" "50" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(=)" "" "0000982079" "00024007" "50" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0001041352" "00025628" "50" "824" "0" "824" "0" "c.824G>C" "r.(?)" "p.(Ser275Thr)" "" "0001041352" "00024007" "50" "983" "0" "983" "0" "c.983G>C" "r.(?)" "p.(Ser328Thr)" "" "0001041353" "00025628" "50" "791" "0" "791" "0" "c.791A>C" "r.(?)" "p.(Glu264Ala)" "" "0001041353" "00024007" "50" "950" "0" "950" "0" "c.950A>C" "r.(?)" "p.(Glu317Ala)" "" "0001041354" "00025628" "30" "710" "0" "710" "0" "c.710G>C" "r.(?)" "p.(Arg237Thr)" "" "0001041354" "00024007" "30" "869" "0" "869" "0" "c.869G>C" "r.(?)" "p.(Arg290Thr)" "" "0001041355" "00025628" "70" "139" "47" "139" "47" "c.139+47C>A" "r.(=)" "p.(=)" "" "0001041355" "00024007" "70" "248" "0" "248" "0" "c.248C>A" "r.(?)" "p.(Ser83Ter)" "" "0001041356" "00025628" "50" "-36" "0" "-36" "0" "c.-36G>A" "r.(?)" "p.(=)" "" "0001041356" "00024007" "50" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Trp9*)" "" "0001055670" "00025628" "50" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Val291Met)" "" "0001055670" "00024007" "50" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Val344Met)" "" "0001055671" "00025628" "90" "373" "0" "373" "0" "c.373C>G" "r.(?)" "p.(Pro125Ala)" "" "0001055671" "00024007" "90" "532" "0" "532" "0" "c.532C>G" "r.(?)" "p.(Pro178Ala)" "" "0001055672" "00025628" "50" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Pro100Leu)" "" "0001055672" "00024007" "50" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Pro153Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000028982" "0000052290" "0000063395" "0000094348" "0000063397" "0000094349" "0000063398" "0000094350" "0000265084" "0000595667" "0000265084" "0000595668" "0000310574" "0000685485" "0000310575" "0000685486" "0000364784" "0000765691" "0000364784" "0000765732" "0000364785" "0000765692" "0000364785" "0000765733" "0000364786" "0000765693" "0000364786" "0000765734" "0000378879" "0000791785" "0000378879" "0000791870" "0000378880" "0000791786" "0000378880" "0000791871" "0000378881" "0000791787" "0000378881" "0000791872" "0000389352" "0000818337" "0000389352" "0000818338" "0000389353" "0000818339" "0000389353" "0000818340" "0000389354" "0000818341" "0000389354" "0000818342" "0000428236" "0000905897" "0000449190" "0000958957" "0000449190" "0000959397"