### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TMEM237)
# 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}}"
"TMEM237" "transmembrane protein 237" "2" "q33" "unknown" "NG_032049.1" "UD_134408295453" "" "https://www.LOVD.nl/TMEM237" "" "1" "14432" "65062" "614423" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases..\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TMEM237_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-01-31 00:00:00" "00006" "2020-11-26 19:33:39" "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}}"
"00024092" "TMEM237" "transcript variant 1" "001" "NM_001044385.2" "" "NP_001037850.1" "" "" "" "-129" "5298" "1227" "202508252" "202484907" "00006" "2016-01-07 11:33:28" "" ""
## 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"
"00078" "MKS1" "Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome)" "AR" "249000" "" "" "" "00015" "2012-11-09 15:11:48" "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"
"00876" "JBTS14" "Joubert syndrome, type 14 (JBTS-14)" "" "614424" "" "" "" "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 = 2
"{{geneid}}" "{{diseaseid}}"
"TMEM237" "00139"
"TMEM237" "00876"
## Individuals ## Do not remove or alter this header ##
## Count = 31
"{{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}}"
"00028949" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-44 Pat19"
"00056063" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00117485" "" "" "" "1" "" "02072" "{PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117486" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "M" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117487" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117488" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117489" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117490" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "M" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117491" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117492" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117493" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117494" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117495" "" "" "" "1" "" "02072" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "M" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117496" "" "" "" "1" "" "02072" "{PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117497" "" "" "" "1" "" "02072" "{PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117498" "" "" "" "1" "" "02072" "{PMID:Huang 2011:22152675}" "" "M" "yes" "Canada" "" "0" "" "" "Hutterite" ""
"00117499" "" "" "" "1" "" "02072" "{PMID:Huang 2011:22152675}" "" "F" "no" "(United States)" "" "0" "" "" "Hispanic;European" ""
"00117500" "" "" "" "1" "" "02072" "{PMID:Janecke 2004:14760273}, {PMID:Huang 2011:22152675}" "deceased" "F" "yes" "Austria" "" "0" "" "" "" ""
"00117501" "" "" "" "1" "" "02072" "{PMID:Janecke 2004:14760273}, {PMID:Huang 2011:22152675}" "fetus died at 22 weeks" "" "yes" "Austria" "" "0" "" "" "" ""
"00117502" "" "" "" "1" "" "02072" "{PMID:Janecke 2004:14760273}, {PMID:Huang 2011:22152675}" "" "F" "yes" "Austria" "" "0" "" "" "" ""
"00117503" "" "" "" "1" "" "00010" "{PMID:Shaheen 2013:23169490}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "23169490-MKS_F1"
"00117504" "" "" "" "1" "" "02072" "{PMID:Huang 2011:22152675}" "" "M" "yes" "Jordan" "" "0" "" "" "" ""
"00292541" "" "" "" "72" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304776" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00358953" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70052"
"00372342" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW098-3"
"00377691" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 83" "F" "" "United States" "" "0" "" "" "" "474"
"00379586" "" "" "" "2" "" "00000" "{PMID:alazami-2012:22693042}" "" "" "" "Saudi Arabia" "" "0" "" "" "" ""
"00387614" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "Iannicelli M,2010. Khaddour R,2007. Doherty D,2010" "" "" "" "" "0" "" "" "" ""
"00388098" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "474"
"00408800" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "F" "yes" "" "" "0" "" "" "" "JS_F4"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 31
"{{individualid}}" "{{diseaseid}}"
"00028949" "00002"
"00056063" "00078"
"00117485" "00876"
"00117486" "00876"
"00117487" "00876"
"00117488" "00876"
"00117489" "00876"
"00117490" "00876"
"00117491" "00876"
"00117492" "00876"
"00117493" "00876"
"00117494" "00876"
"00117495" "00876"
"00117496" "00876"
"00117497" "00876"
"00117498" "00876"
"00117499" "00876"
"00117500" "00876"
"00117501" "00876"
"00117502" "00876"
"00117503" "05578"
"00117504" "00876"
"00292541" "00198"
"00304776" "00198"
"00358953" "04214"
"00372342" "05109"
"00377691" "04214"
"00379586" "04214"
"00387614" "04214"
"00388098" "04214"
"00408800" "05109"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00002, 00078, 00139, 00198, 00876, 04214, 05109, 05578
## Count = 29
"{{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}}"
"0000025024" "00002" "00028949" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043083" "00078" "00056063" "00006" "Unknown" "" "Meckel-Gruber syndrome" "" "" "" "" "" "" "" "" "" "" ""
"0000092955" "00876" "00117485" "02072" "Familial, autosomal recessive" "02d" "encephalocele;cystic kidney;" "" "" "" "" "" "" "" "" "" "" ""
"0000092956" "00876" "00117486" "02072" "Familial, autosomal recessive" "08y" "molar tooth sign; posterior fossa abnormality; hydrocephalus; cystic kidney; nystagmus; strabismus; optic atrophy" "" "" "" "" "" "" "" "" "" "" ""
"0000092957" "00876" "00117487" "02072" "Familial, autosomal recessive" "07y" "molar tooth sign; posterior fossa abnormality; hydrocephalus; encephalocele; cystic kidney; Nystagmus; strabismus" "" "" "" "" "" "" "" "" "" "" ""
"0000092958" "00876" "00117488" "02072" "Familial, autosomal recessive" "28y" "cerebellar vermis hypoplasia; nystagmus; strabismus" "" "" "" "" "" "" "" "" "" "" ""
"0000092959" "00876" "00117489" "02072" "Familial, autosomal recessive" "12y" "cerebellar vermis hypoplasia; nystagmus; strabismus" "" "" "" "" "" "" "" "" "" "" ""
"0000092960" "00876" "00117490" "02072" "Familial, autosomal recessive" "12y" "molar tooth sign; nystagmus; strabismus; coloboma;intracranial bleed" "" "" "" "" "" "" "" "" "" "" ""
"0000092961" "00876" "00117491" "02072" "Familial, autosomal recessive" "00d" "encephalocele; hydrocephalus; cystic kidney; cleft palate" "" "" "" "" "" "" "" "" "" "" ""
"0000092962" "00876" "00117492" "02072" "Familial, autosomal recessive" "02d" "hydrocephalus; cystic kidney;postaxial polydactyly" "" "" "" "" "" "" "" "" "" "" ""
"0000092963" "00876" "00117493" "02072" "Familial, autosomal recessive" "09y" "molar tooth sign; encephalocele; cystic kidney; nystagmus; strabismus; coloboma; ventricular septal defect" "" "" "" "" "" "" "" "" "" "" ""
"0000092964" "00876" "00117494" "02072" "Familial, autosomal recessive" "13m" "encephalocele; hydrocephalus; Dandy-Walker variant; cystic kidney; nystagmus; strabismus" "" "" "" "" "" "" "" "" "" "" ""
"0000092965" "00876" "00117495" "02072" "Familial, autosomal recessive" "08y" "molar tooth sign; posterior fossa abnormality; cystic kidney; nystagmus; strabismus" "" "" "" "" "" "" "" "" "" "" ""
"0000092966" "00876" "00117496" "02072" "Familial, autosomal recessive" "21d" "molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney" "" "" "" "" "" "" "" "" "" "" ""
"0000092967" "00876" "00117497" "02072" "Familial, autosomal recessive" "03m" "molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney; nystagmus" "" "" "" "" "" "" "" "" "" "" ""
"0000092968" "00876" "00117498" "02072" "Familial, autosomal recessive" "" "molar tooth sign; Dandy-Walker variant; hydrocephalus; cystic kidney; nystagmus" "" "" "" "" "" "" "" "" "" "" ""
"0000092969" "00876" "00117499" "02072" "Familial, autosomal recessive" "04y" "molar tooth sign; hydrocephalus; posterior fossa abnormality; cortical visual impairment; cystic kidney; nystagmus; strabismus" "" "" "" "" "" "" "" "" "" "" ""
"0000092970" "00876" "00117500" "02072" "Familial, autosomal recessive" "04y" "cerebellar vermis aplasia; cystic kidney; morning glory disc anomaly;" "" "" "" "" "" "" "" "" "" "" ""
"0000092971" "00876" "00117501" "02072" "Familial, autosomal recessive" "" "hydrocephalus; cerebellar vermis aplasia; corpus callosum hypoplasia; meningocele; cystic kidney; morning glory disc anomaly" "" "" "" "" "" "" "" "" "" "" ""
"0000092972" "00876" "00117502" "02072" "Familial, autosomal recessive" "11y" "cerebellar vermis aplasia; brain stem hypoplasia; cystic kidney; nystagmus; morning glory disc anomaly" "" "" "" "" "" "" "" "" "" "" ""
"0000092974" "00876" "00117504" "02072" "Familial, autosomal recessive" "" "meningomyelocele; cortical visual impairment" "" "" "" "" "" "" "" "" "" "" ""
"0000170820" "05578" "00117503" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "JBTS-14" "Meckel-Gruber syndrome" ""
"0000254251" "04214" "00358953" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267663" "05109" "00372342" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" ""
"0000272843" "04214" "00377691" "00000" "Familial, autosomal recessive" "" "kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina" "" "" "" "" "" "" "" "" "" "Joubert syndrome" ""
"0000273440" "04214" "00379586" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JS)" ""
"0000281177" "04214" "00387614" "00000" "Familial" "" "" "16y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" ""
"0000281692" "04214" "00388098" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" ""
"0000300919" "05109" "00408800" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "" "Joubert syndrome" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 31
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000028983" "00028949" "1" "01188" "01188" "2015-01-06 09:10:27" "" "" "SEQ-NG-S" "DNA" "blood" ""
"0000056019" "00056063" "1" "00552" "00552" "2015-12-08 17:13:01" "" "" "SEQ-NG" "DNA" "" ""
"0000117948" "00117485" "1" "02072" "02072" "2013-06-24 17:37:28" "02072" "2013-06-25 02:36:31" "SEQ" "DNA" "" ""
"0000117949" "00117486" "1" "02072" "02072" "2013-06-24 19:06:33" "02072" "2013-06-24 19:26:50" "SEQ" "DNA" "" ""
"0000117950" "00117487" "1" "02072" "02072" "2013-06-24 19:10:57" "02072" "2013-06-25 02:37:04" "SEQ" "DNA" "" ""
"0000117951" "00117488" "1" "02072" "02072" "2013-06-24 19:14:33" "02072" "2013-06-25 02:37:48" "SEQ" "DNA" "" ""
"0000117952" "00117489" "1" "02072" "02072" "2013-06-24 19:18:28" "02072" "2013-06-25 02:38:26" "SEQ" "DNA" "" ""
"0000117953" "00117490" "1" "02072" "02072" "2013-06-24 19:32:12" "02072" "2013-06-24 19:35:51" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000117954" "00117491" "1" "02072" "02072" "2013-06-24 19:35:06" "" "" "SEQ" "DNA" "" ""
"0000117955" "00117492" "1" "02072" "02072" "2013-06-24 19:39:25" "" "" "SEQ" "DNA" "" ""
"0000117956" "00117493" "1" "02072" "02072" "2013-06-25 02:20:57" "" "" "SEQ" "DNA" "" ""
"0000117957" "00117494" "1" "02072" "02072" "2013-06-25 02:24:26" "" "" "SEQ" "DNA" "" ""
"0000117958" "00117495" "1" "02072" "02072" "2013-06-25 02:26:59" "" "" "SEQ" "DNA" "" ""
"0000117959" "00117496" "1" "02072" "02072" "2013-06-25 02:29:57" "" "" "SEQ" "DNA" "" ""
"0000117960" "00117497" "1" "02072" "02072" "2013-06-25 02:32:53" "" "" "SEQ" "DNA" "" ""
"0000117961" "00117498" "1" "02072" "02072" "2013-06-25 02:35:16" "" "" "SEQ" "DNA" "" ""
"0000117962" "00117499" "1" "02072" "02072" "2013-06-25 03:14:04" "" "" "SEQ" "DNA" "" ""
"0000117963" "00117500" "1" "02072" "00006" "2013-06-25 02:49:48" "02072" "2013-06-25 02:50:27" "SEQ; RT-PCR" "DNA;RNA" "" ""
"0000117964" "00117501" "1" "02072" "02072" "2013-06-25 02:55:27" "" "" "SEQ; RT-PCR" "DNA;RNA" "" ""
"0000117965" "00117502" "1" "02072" "02072" "2013-06-25 02:58:37" "" "" "SEQ; RT-PCR" "DNA;RNA" "" ""
"0000117966" "00117503" "1" "00010" "00010" "2012-05-17 18:51:15" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000117967" "00117504" "1" "02072" "02072" "2013-06-25 03:05:13" "" "" "SEQ" "DNA" "" ""
"0000293709" "00292541" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305905" "00304776" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000360190" "00358953" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000373571" "00372342" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel"
"0000378895" "00377691" "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"
"0000380785" "00379586" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "PCR;SEQ;RT-PCR" "DNA;RNA" "blood" ""
"0000388840" "00387614" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" ""
"0000389337" "00388098" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000410065" "00408800" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 27
"{{screeningid}}" "{{geneid}}"
"0000028983" "TMEM67"
"0000117948" "TMEM237"
"0000117949" "TMEM237"
"0000117950" "TMEM237"
"0000117951" "TMEM237"
"0000117952" "TMEM237"
"0000117953" "TMEM237"
"0000117954" "TMEM237"
"0000117955" "TMEM237"
"0000117956" "TMEM237"
"0000117957" "TMEM237"
"0000117958" "TMEM237"
"0000117959" "TMEM237"
"0000117960" "TMEM237"
"0000117961" "TMEM237"
"0000117962" "TMEM237"
"0000117963" "TMEM237"
"0000117964" "TMEM237"
"0000117965" "TMEM237"
"0000117966" "TMEM237"
"0000117967" "TMEM237"
"0000373571" "TMEM237"
"0000378895" "TMEM237"
"0000380785" "TMEM237"
"0000388840" "TMEM237"
"0000389337" "TMEM237"
"0000410065" "TMEM237"
## 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 = 82
"{{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}}"
"0000086058" "1" "90" "2" "202494114" "202494114" "del" "0" "00552" "TMEM237_000007" "g.202494114del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.201629391del" "" "pathogenic" ""
"0000193913" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193914" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193915" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 control chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193916" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193917" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193918" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193919" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193920" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193921" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193922" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193923" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Boycott 2007:17603801}, {PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193924" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193925" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193926" "3" "99" "2" "202505638" "202505638" "subst" "5.72972E-5" "02072" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Huang 2011:22152675}" "" "" "not found in over 210 chromosomes; carrier frequency of 6% in the Hutterites" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000193927" "21" "99" "2" "202504987" "202504987" "subst" "0" "02072" "TMEM237_000004" "g.202504987G>A" "" "{PMID:Huang 2011:22152675}" "" "" "not in over 210 control chromosomes" "Germline" "" "" "0" "" "" "g.201640264G>A" "" "pathogenic" ""
"0000193928" "3" "99" "2" "202494451" "202494451" "subst" "0" "02072" "TMEM237_000002" "g.202494451C>A" "" "{PMID:Janecke 2004:14760273}, {PMID:Huang 2011:22152675}" "" "" "" "Germline" "" "" "0" "" "" "g.201629728C>A" "" "pathogenic" ""
"0000193929" "3" "99" "2" "202494451" "202494451" "subst" "0" "02072" "TMEM237_000002" "g.202494451C>A" "" "{PMID:Janecke 2004:14760273}, {PMID:Huang 2011:22152675}" "" "" "" "Germline" "" "" "0" "" "" "g.201629728C>A" "" "pathogenic" ""
"0000193930" "3" "99" "2" "202494451" "202494451" "subst" "0" "02072" "TMEM237_000002" "g.202494451C>A" "" "{PMID:Janecke 2004:14760273}, {PMID:Huang 2011:22152675}" "" "" "" "Germline" "" "" "0" "" "" "g.201629728C>A" "" "pathogenic" ""
"0000193931" "3" "99" "2" "202493952" "202493952" "subst" "0" "00010" "TMEM237_000006" "g.202493952C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201629229C>T" "" "pathogenic" ""
"0000193932" "11" "99" "2" "202492798" "202492798" "subst" "0" "02072" "TMEM237_000005" "g.202492798C>A" "" "{PMID:Huang 2011:22152675}" "" "" "not in over 210 control chromosomes" "Germline" "" "" "0" "" "" "g.201628075C>A" "" "pathogenic" ""
"0000193933" "3" "99" "2" "202490843" "202490843" "dup" "0" "02072" "TMEM237_000003" "g.202490843dup" "" "{PMID:Huang 2011:22152675}" "" "" "not in over 210 control chromosomes" "Germline" "" "" "0" "" "" "g.201626120dup" "" "pathogenic" ""
"0000251269" "0" "10" "2" "202494336" "202494336" "subst" "0" "02326" "TMEM237_000013" "g.202494336A>G" "" "" "" "TMEM237(NM_152388.4):c.653+116T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201629613A>G" "" "benign" ""
"0000255203" "0" "30" "2" "202498163" "202498163" "subst" "8.5196E-5" "01943" "TMEM237_000018" "g.202498163A>G" "" "" "" "TMEM237(NM_152388.3):c.251-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201633440A>G" "" "likely benign" ""
"0000309218" "0" "30" "2" "202498081" "202498081" "subst" "0.00158753" "02330" "TMEM237_000017" "g.202498081C>T" "" "" "" "TMEM237(NM_001044385.3):c.348G>A (p.A116=), TMEM237(NM_152388.3):c.324G>A (p.A108=), TMEM237(NM_152388.4):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201633358C>T" "" "likely benign" ""
"0000311877" "0" "30" "2" "202492886" "202492887" "del" "0" "02325" "TMEM237_000012" "g.202492886_202492887del" "" "" "" "TMEM237(NM_001044385.2):c.870-13_870-12delTT, TMEM237(NM_152388.4):c.846-13_846-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201628163_201628164del" "" "likely benign" ""
"0000314559" "0" "90" "2" "202505638" "202505638" "subst" "5.72972E-5" "02326" "TMEM237_000001" "g.202505638G>A" "" "" "" "TMEM237(NM_001044385.3):c.52C>T (p.(Arg18Ter), p.R18*), TMEM237(NM_152388.3):c.28C>T (p.R10*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000314560" "0" "10" "2" "202498027" "202498027" "subst" "0.00788549" "02326" "TMEM237_000016" "g.202498027T>C" "" "" "" "TMEM237(NM_152388.4):c.371+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201633304T>C" "" "benign" ""
"0000314561" "0" "10" "2" "202494641" "202494641" "del" "0" "02326" "TMEM237_000014" "g.202494641del" "" "" "" "TMEM237(NM_152388.4):c.530-56delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201629918del" "" "benign" ""
"0000316687" "0" "10" "2" "202508135" "202508135" "subst" "0.0161905" "01943" "TMEM237_000021" "g.202508135C>T" "" "" "" "TMEM237(NM_001044385.2):c.-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201643412C>T" "" "benign" ""
"0000316688" "0" "10" "2" "202490812" "202490812" "subst" "0.0442449" "01943" "TMEM237_000008" "g.202490812C>A" "" "" "" "TMEM237(NM_001044385.2):c.1096G>T (p.A366S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201626089C>A" "" "benign" ""
"0000316689" "0" "10" "2" "202503704" "202503704" "subst" "0.000431997" "01943" "TMEM237_000020" "g.202503704C>T" "" "" "" "TMEM237(NM_001044385.3):c.136+8G>A, TMEM237(NM_152388.3):c.112+8G>A, TMEM237(NM_152388.4):c.112+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201638981C>T" "" "benign" ""
"0000316690" "0" "30" "2" "202498081" "202498081" "subst" "0.00158753" "01943" "TMEM237_000017" "g.202498081C>T" "" "" "" "TMEM237(NM_001044385.3):c.348G>A (p.A116=), TMEM237(NM_152388.3):c.324G>A (p.A108=), TMEM237(NM_152388.4):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201633358C>T" "" "likely benign" ""
"0000316691" "0" "10" "2" "202492886" "202492887" "del" "0" "01943" "TMEM237_000011" "g.202492886_202492887del" "" "" "" "TMEM237(NM_001044385.2):c.870-13_870-12delTT, TMEM237(NM_152388.4):c.846-13_846-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201628163_201628164del" "" "benign" ""
"0000328044" "0" "50" "2" "202483675" "202483675" "subst" "1.21881E-5" "01804" "ALS2CR11_000004" "g.202483675G>T" "" "" "" "ALS2CR11(NM_001168216.1):c.179C>A (p.(Thr60Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201618952G>T" "" "VUS" ""
"0000328045" "0" "50" "2" "202492872" "202492872" "subst" "0" "01804" "TMEM237_000010" "g.202492872C>A" "" "" "" "TMEM237(NM_001044385.2):c.870G>T (p.(Arg290Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201628149C>A" "" "VUS" ""
"0000328046" "0" "50" "2" "202496909" "202496909" "subst" "4.06379E-6" "01804" "TMEM237_000015" "g.202496909G>A" "" "" "" "TMEM237(NM_001044385.2):c.418C>T (p.(Gln140*)), TMEM237(NM_152388.3):c.394C>T (p.Q132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201632186G>A" "" "VUS" ""
"0000328047" "0" "50" "2" "202501606" "202501606" "subst" "1.32691E-5" "01804" "TMEM237_000019" "g.202501606T>C" "" "" "" "TMEM237(NM_001044385.2):c.139A>G (p.(Ser47Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201636883T>C" "" "VUS" ""
"0000328048" "0" "50" "2" "202512466" "202512466" "subst" "8.12269E-6" "01804" "MPP4_000002" "g.202512466G>A" "" "" "" "MPP4(NM_033066.2):c.1667C>T (p.(Ser556Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201647743G>A" "" "VUS" ""
"0000513906" "0" "30" "2" "202489023" "202489023" "subst" "0" "01943" "TMEM237_000022" "g.202489023C>T" "" "" "" "TMEM237(NM_152388.3):c.1158G>A (p.V386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201624300C>T" "" "likely benign" ""
"0000513907" "0" "30" "2" "202490843" "202490843" "subst" "0.00166101" "01943" "TMEM237_000023" "g.202490843G>C" "" "" "" "TMEM237(NM_152388.3):c.1041C>G (p.L347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201626120G>C" "" "likely benign" ""
"0000513908" "0" "90" "2" "202490843" "202490843" "dup" "0" "02326" "TMEM237_000024" "g.202490843dup" "" "" "" "TMEM237(NM_152388.4):c.1042dupC (p.Q348Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201626120dup" "" "pathogenic" ""
"0000513910" "0" "50" "2" "202496828" "202496828" "subst" "8.53291E-5" "01943" "TMEM237_000026" "g.202496828T>C" "" "" "" "TMEM237(NM_152388.3):c.475A>G (p.T159A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201632105T>C" "" "VUS" ""
"0000513911" "0" "50" "2" "202498112" "202498112" "subst" "2.5967E-5" "02325" "TMEM237_000027" "g.202498112G>C" "" "" "" "TMEM237(NM_152388.3):c.293C>G (p.S98C), TMEM237(NM_152388.4):c.293C>G (p.S98C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201633389G>C" "" "VUS" ""
"0000513912" "0" "30" "2" "202498131" "202498131" "subst" "0" "01804" "TMEM237_000028" "g.202498131T>C" "" "" "" "TMEM237(NM_001044385.2):c.298A>G (p.(Lys100Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201633408T>C" "" "likely benign" ""
"0000513913" "0" "30" "2" "202501540" "202501540" "subst" "1.74906E-5" "01943" "TMEM237_000029" "g.202501540T>A" "" "" "" "TMEM237(NM_152388.3):c.181A>T (p.T61S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201636817T>A" "" "likely benign" ""
"0000513914" "0" "50" "2" "202503751" "202503751" "subst" "0.000560331" "02330" "TMEM237_000030" "g.202503751G>A" "" "" "" "TMEM237(NM_152388.4):c.73C>T (p.R25C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201639028G>A" "" "VUS" ""
"0000513915" "0" "90" "2" "202505638" "202505638" "subst" "5.72972E-5" "02327" "TMEM237_000001" "g.202505638G>A" "" "" "" "TMEM237(NM_001044385.3):c.52C>T (p.(Arg18Ter), p.R18*), TMEM237(NM_152388.3):c.28C>T (p.R10*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201640915G>A" "" "pathogenic" ""
"0000607388" "0" "10" "2" "202503704" "202503704" "subst" "0.000431997" "02330" "TMEM237_000020" "g.202503704C>T" "" "" "" "TMEM237(NM_001044385.3):c.136+8G>A, TMEM237(NM_152388.3):c.112+8G>A, TMEM237(NM_152388.4):c.112+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201638981C>T" "" "benign" ""
"0000650398" "1" "30" "2" "202490812" "202490812" "subst" "0.0442449" "03575" "TMEM237_000008" "g.202490812C>A" "72/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "72 heterozygous; {DB:CLININrs73989521}" "Germline" "" "rs73989521" "0" "" "" "g.201626089C>A" "" "likely benign" ""
"0000654491" "0" "30" "2" "202494585" "202494585" "subst" "5.87983E-5" "02330" "TMEM237_000031" "g.202494585C>T" "" "" "" "TMEM237(NM_001044385.3):c.554-10G>A, TMEM237(NM_152388.4):c.530-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201629862C>T" "" "likely benign" ""
"0000654492" "0" "50" "2" "202498112" "202498112" "subst" "2.5967E-5" "01943" "TMEM237_000027" "g.202498112G>C" "" "" "" "TMEM237(NM_152388.3):c.293C>G (p.S98C), TMEM237(NM_152388.4):c.293C>G (p.S98C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201633389G>C" "" "VUS" ""
"0000669593" "3" "30" "2" "202490812" "202490812" "subst" "0.0442449" "03575" "TMEM237_000008" "g.202490812C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs73989521}" "Germline" "" "rs73989521" "0" "" "" "g.201626089C>A" "" "likely benign" ""
"0000676444" "0" "90" "2" "202505638" "202505638" "subst" "5.72972E-5" "01943" "TMEM237_000001" "g.202505638G>A" "" "" "" "TMEM237(NM_001044385.3):c.52C>T (p.(Arg18Ter), p.R18*), TMEM237(NM_152388.3):c.28C>T (p.R10*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000688601" "0" "30" "2" "202496888" "202496888" "subst" "0.000182833" "01943" "TMEM237_000032" "g.202496888C>T" "" "" "" "TMEM237(NM_152388.3):c.415G>A (p.V139I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000718377" "0" "50" "2" "202494465" "202494465" "subst" "0" "01943" "TMEM237_000033" "g.202494465G>A" "" "" "" "TMEM237(NM_152388.3):c.640C>T (p.H214Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000718378" "0" "30" "2" "202501551" "202501551" "subst" "0.000451271" "02330" "TMEM237_000034" "g.202501551T>C" "" "" "" "TMEM237(NM_152388.4):c.170A>G (p.N57S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000759992" "0" "50" "2" "202505648" "202505648" "subst" "0" "00000" "TMEM237_000035" "g.202505648C>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.201640925C>G" "" "VUS" ""
"0000783551" "1" "90" "2" "202504987" "202504987" "subst" "0" "00000" "TMEM237_000004" "g.202504987G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001044385.2:c.76C>T" "" "Germline" "" "" "0" "" "" "g.201640264G>A" "" "pathogenic" ""
"0000783726" "2" "90" "2" "202492798" "202492798" "subst" "0" "00000" "TMEM237_000005" "g.202492798C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001044385.2:c.943+1G>T" "" "Germline" "" "" "0" "" "" "g.201628075C>A" "" "pathogenic" ""
"0000785446" "0" "50" "2" "202505638" "202505638" "subst" "5.72972E-5" "00000" "TMEM237_000001" "g.202505638G>A" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.201640915G>A" "" "VUS" ""
"0000791801" "0" "70" "2" "202504987" "202504987" "subst" "0" "00000" "TMEM237_000004" "g.202504987G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.76C>T; p.Q26*" "" "Germline" "?" "" "0" "" "" "g.201640264G>A" "" "likely pathogenic" ""
"0000791880" "0" "70" "2" "202492798" "202492798" "subst" "0" "00000" "TMEM237_000005" "g.202492798C>A" "" "{PMID:Brooks 2018:30055837}" "" "c.943+1G>T" "" "Germline" "?" "" "0" "" "" "g.201628075C>A" "" "likely pathogenic" ""
"0000793981" "0" "90" "2" "202493952" "202493952" "subst" "0" "00000" "TMEM237_000006" "g.202493952C>T" "" "{PMID:alazami-2012:22693042}" "" "c.869+1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000800274" "0" "90" "2" "202496909" "202496909" "subst" "4.06379E-6" "01943" "TMEM237_000015" "g.202496909G>A" "" "" "" "TMEM237(NM_001044385.2):c.418C>T (p.(Gln140*)), TMEM237(NM_152388.3):c.394C>T (p.Q132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000817614" "0" "90" "2" "202494113" "202494113" "del" "0" "00000" "TMEM237_000007" "g.202494113del" "" "{PMID:Watson 2016:26729329}" "" "c.709del (p.Ala237Leufs*10)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000818307" "0" "90" "2" "202504987" "202504987" "subst" "0" "00000" "TMEM237_000004" "g.202504987G>A" "" "{PMID:Summers 2017:28497568}" "" "c.76C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000818308" "0" "90" "2" "202492798" "202492798" "subst" "0" "00000" "TMEM237_000005" "g.202492798C>A" "" "{PMID:Summers 2017:28497568}" "" "c.943+1G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000847314" "3" "70" "6" "202493952" "202493952" "subst" "0" "00000" "TMEM237_000006" "g.202493952C>T" "" "{PMID:Alazami 2012:22693042}" "" "TMEM237 c.869+1G>A, p.M227_R290del" "homozygous" "Germline" "yes" "" "0" "" "" "g.201629229C>T" "" "likely pathogenic" ""
"0000849646" "0" "30" "2" "202496852" "202496852" "subst" "0.000633868" "01943" "TMEM237_000036" "g.202496852T>C" "" "" "" "TMEM237(NM_152388.3):c.451A>G (p.T151A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849647" "0" "30" "2" "202498081" "202498081" "subst" "0.00158753" "02326" "TMEM237_000017" "g.202498081C>T" "" "" "" "TMEM237(NM_001044385.3):c.348G>A (p.A116=), TMEM237(NM_152388.3):c.324G>A (p.A108=), TMEM237(NM_152388.4):c.324G>A (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000884686" "0" "30" "2" "202494159" "202494159" "subst" "0" "02326" "TMEM237_000037" "g.202494159G>T" "" "" "" "TMEM237(NM_001044385.3):c.678-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000884687" "0" "30" "2" "202505001" "202505001" "subst" "0.00177134" "02330" "MPP4_000005" "g.202505001A>G" "" "" "" "TMEM237(NM_001044385.3):c.75-13T>C, TMEM237(NM_152388.4):c.51-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923559" "0" "30" "2" "202503704" "202503704" "subst" "0.000431997" "02326" "TMEM237_000020" "g.202503704C>T" "" "" "" "TMEM237(NM_001044385.3):c.136+8G>A, TMEM237(NM_152388.3):c.112+8G>A, TMEM237(NM_152388.4):c.112+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923560" "0" "30" "2" "202503779" "202503779" "subst" "0.00105622" "02326" "TMEM237_000038" "g.202503779A>G" "" "" "" "TMEM237(NM_001044385.3):c.80-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000961802" "0" "30" "2" "202501569" "202501569" "subst" "0.000411949" "02326" "TMEM237_000039" "g.202501569C>T" "" "" "" "TMEM237(NM_001044385.3):c.176G>A (p.R59Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974861" "0" "30" "2" "202505001" "202505001" "subst" "0.00177134" "02326" "MPP4_000005" "g.202505001A>G" "" "" "" "TMEM237(NM_001044385.3):c.75-13T>C, TMEM237(NM_152388.4):c.51-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000992376" "0" "30" "2" "202483711" "202483711" "subst" "0.000475092" "01804" "TMEM237_000040" "g.202483711G>A" "" "" "" "ALS2CR11(NM_001168221.1):c.143C>T (p.(Ala48Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032897" "0" "30" "2" "202494585" "202494585" "subst" "5.87983E-5" "01804" "TMEM237_000031" "g.202494585C>T" "" "" "" "TMEM237(NM_001044385.3):c.554-10G>A, TMEM237(NM_152388.4):c.530-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032898" "0" "90" "2" "202505638" "202505638" "subst" "5.72972E-5" "01804" "TMEM237_000001" "g.202505638G>A" "" "" "" "TMEM237(NM_001044385.3):c.52C>T (p.(Arg18Ter), p.R18*), TMEM237(NM_152388.3):c.28C>T (p.R10*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001051010" "0" "50" "2" "202496786" "202496786" "subst" "3.66154E-5" "01804" "TMEM237_000041" "g.202496786C>T" "" "" "" "TMEM237(NM_001044385.3):c.541G>A (p.(Val181Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001051011" "0" "50" "2" "202508123" "202508123" "subst" "3.27482E-5" "01804" "MPP4_000006" "g.202508123T>C" "" "" "" "TMEM237(NM_001044385.3):c.1A>G (p.(Met1?))" "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 TMEM237
## Count = 82
"{{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}}"
"0000086058" "00024092" "90" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Ala237Leufs*10)" "9"
"0000193913" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193914" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193915" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193916" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193917" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193918" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193919" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193920" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193921" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193922" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193923" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193924" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193925" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193926" "00024092" "99" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "2"
"0000193927" "00024092" "99" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Gln26*)" "3"
"0000193928" "00024092" "99" "677" "1" "677" "1" "c.677+1G>T" "r.[560_751del, 554_677del]" "p.[Phe187_Ala251delinsSer, Arg186*]" "8i"
"0000193929" "00024092" "99" "677" "1" "677" "1" "c.677+1G>T" "r.[560_751del, 554_677del]" "p.[Phe187_Ala251delinsSer, Arg186*]" "8i"
"0000193930" "00024092" "99" "677" "1" "677" "1" "c.677+1G>T" "r.[560_751del, 554_677del]" "p.[Phe187_Ala251delinsSer, Arg186*]" "8i"
"0000193931" "00024092" "99" "869" "1" "869" "1" "c.869+1G>A" "r.678_869del" "p.Met227_Arg290del" "9i"
"0000193932" "00024092" "99" "943" "1" "943" "1" "c.943+1G>T" "r.870_1037del" "p.Ile291_Trp346del" "10i"
"0000193933" "00024092" "99" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356Profs*24)" "12"
"0000251269" "00024092" "10" "677" "116" "677" "116" "c.677+116T>C" "r.(=)" "p.(=)" ""
"0000255203" "00024092" "30" "275" "-9" "275" "-9" "c.275-9T>C" "r.(=)" "p.(=)" ""
"0000309218" "00024092" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Ala116=)" ""
"0000311877" "00024092" "30" "870" "-13" "870" "-12" "c.870-13_870-12del" "r.(=)" "p.(=)" ""
"0000314559" "00024092" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0000314560" "00024092" "10" "395" "7" "395" "7" "c.395+7A>G" "r.(=)" "p.(=)" ""
"0000314561" "00024092" "10" "554" "-56" "554" "-56" "c.554-56del" "r.(=)" "p.(=)" ""
"0000316687" "00024092" "10" "-12" "0" "-12" "0" "c.-12G>A" "r.(?)" "p.(=)" ""
"0000316688" "00024092" "10" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Ala366Ser)" ""
"0000316689" "00024092" "10" "136" "8" "136" "8" "c.136+8G>A" "r.(=)" "p.(=)" ""
"0000316690" "00024092" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Ala116=)" ""
"0000316691" "00024092" "10" "870" "-13" "870" "-12" "c.870-13_870-12del" "r.(=)" "p.(=)" ""
"0000328044" "00024092" "50" "6530" "0" "6530" "0" "c.*5303C>A" "r.(=)" "p.(=)" ""
"0000328045" "00024092" "50" "870" "0" "870" "0" "c.870G>T" "r.(?)" "p.(Arg290Ser)" ""
"0000328046" "00024092" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Gln140Ter)" ""
"0000328047" "00024092" "50" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Ser47Gly)" ""
"0000328048" "00024092" "50" "-4343" "0" "-4343" "0" "c.-4343C>T" "r.(?)" "p.(=)" ""
"0000513906" "00024092" "30" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Val394=)" ""
"0000513907" "00024092" "30" "1065" "0" "1065" "0" "c.1065C>G" "r.(?)" "p.(Leu355=)" ""
"0000513908" "00024092" "90" "1066" "0" "1066" "0" "c.1066dup" "r.(?)" "p.(Gln356ProfsTer24)" ""
"0000513910" "00024092" "50" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Thr167Ala)" ""
"0000513911" "00024092" "50" "317" "0" "317" "0" "c.317C>G" "r.(?)" "p.(Ser106Cys)" ""
"0000513912" "00024092" "30" "298" "0" "298" "0" "c.298A>G" "r.(?)" "p.(Lys100Glu)" ""
"0000513913" "00024092" "30" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Thr69Ser)" ""
"0000513914" "00024092" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" ""
"0000513915" "00024092" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0000607388" "00024092" "10" "136" "8" "136" "8" "c.136+8G>A" "r.(=)" "p.(=)" ""
"0000650398" "00024092" "30" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Ala366Ser)" ""
"0000654491" "00024092" "30" "554" "-10" "554" "-10" "c.554-10G>A" "r.(=)" "p.(=)" ""
"0000654492" "00024092" "50" "317" "0" "317" "0" "c.317C>G" "r.(?)" "p.(Ser106Cys)" ""
"0000669593" "00024092" "30" "1096" "0" "1096" "0" "c.1096G>T" "r.(?)" "p.(Ala366Ser)" ""
"0000676444" "00024092" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0000688601" "00024092" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Val147Ile)" ""
"0000718377" "00024092" "50" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(His222Tyr)" ""
"0000718378" "00024092" "30" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Asn65Ser)" ""
"0000759992" "00024092" "50" "43" "-1" "43" "-1" "c.43-1G>C" "r.spl" "p.?" ""
"0000783551" "00024092" "90" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Gln26*)" ""
"0000783726" "00024092" "90" "943" "1" "943" "1" "c.943+1G>T" "r.spl?" "p.?" ""
"0000785446" "00024092" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0000791801" "00024092" "70" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Gln26*)" ""
"0000791880" "00024092" "70" "943" "1" "943" "1" "c.943+1G>T" "r.spl" "p.(?)" ""
"0000793981" "00024092" "90" "869" "1" "869" "1" "c.869+1G>A" "r.spl?" "p.M227_R290del" "9i"
"0000800274" "00024092" "90" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Gln140Ter)" ""
"0000817614" "00024092" "90" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Ala237Leufs*10)" "9"
"0000818307" "00024092" "90" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Gln26*)" "3"
"0000818308" "00024092" "90" "943" "1" "943" "1" "c.943+1G>T" "r.spl?" "p.?" "10i"
"0000847314" "00024092" "70" "869" "1" "869" "1" "c.869+1G>A" "r.678_869del" "p.(Met227_Arg290del)" ""
"0000849646" "00024092" "30" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Thr159Ala)" ""
"0000849647" "00024092" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Ala116=)" ""
"0000884686" "00024092" "30" "678" "-15" "678" "-15" "c.678-15C>A" "r.(=)" "p.(=)" ""
"0000884687" "00024092" "30" "75" "-13" "75" "-13" "c.75-13T>C" "r.(=)" "p.(=)" ""
"0000923559" "00024092" "30" "136" "8" "136" "8" "c.136+8G>A" "r.(=)" "p.(=)" ""
"0000923560" "00024092" "30" "80" "-11" "80" "-11" "c.80-11T>C" "r.(=)" "p.(=)" ""
"0000961802" "00024092" "30" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59Gln)" ""
"0000974861" "00024092" "30" "75" "-13" "75" "-13" "c.75-13T>C" "r.(=)" "p.(=)" ""
"0000992376" "00024092" "30" "6494" "0" "6494" "0" "c.*5267C>T" "r.(=)" "p.(=)" ""
"0001032897" "00024092" "30" "554" "-10" "554" "-10" "c.554-10G>A" "r.(=)" "p.(=)" ""
"0001032898" "00024092" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0001051010" "00024092" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" ""
"0001051011" "00024092" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}" "{{variantid}}"
"0000028983" "0000785446"
"0000056019" "0000086058"
"0000117948" "0000193913"
"0000117949" "0000193914"
"0000117950" "0000193915"
"0000117951" "0000193916"
"0000117952" "0000193917"
"0000117953" "0000193918"
"0000117954" "0000193919"
"0000117955" "0000193920"
"0000117956" "0000193921"
"0000117957" "0000193922"
"0000117958" "0000193923"
"0000117959" "0000193924"
"0000117960" "0000193925"
"0000117961" "0000193926"
"0000117962" "0000193927"
"0000117962" "0000193932"
"0000117963" "0000193928"
"0000117964" "0000193929"
"0000117965" "0000193930"
"0000117966" "0000193931"
"0000117967" "0000193933"
"0000293709" "0000650398"
"0000305905" "0000669593"
"0000360190" "0000759992"
"0000373571" "0000783551"
"0000373571" "0000783726"
"0000378895" "0000791801"
"0000378895" "0000791880"
"0000380785" "0000793981"
"0000388840" "0000817614"
"0000389337" "0000818307"
"0000389337" "0000818308"
"0000410065" "0000847314"