### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TMEM5)
# 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}}"
"TMEM5" "transmembrane protein 5" "12" "q14.1" "unknown" "NC_000012.11" "UD_136094661170" "" "http://www.LOVD.nl/RXYLT1" "" "1" "13530" "10329" "605862" "1" "1" "1" "1" "NOTE: gene name changed from TMEM5 to RXYLT1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/TMEM5_codingDNA.html" "1" "" "NOTE: gene name changed from TMEM5 to RXYLT1" "-1" "" "-1" "00001" "2013-04-01 00:00:00" "00006" "2022-11-28 09:28:46" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00021253" "TMEM5" "transmembrane protein 5" "001" "NM_014254.1" "" "NP_055069.1" "" "" "" "-104" "1347" "1332" "64173637" "64202887" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00361" "WWS" "Walker-Warburg syndrome (WWS)" "SMo" "" "" "" "" "00006" "2014-03-22 16:35:00" "00006" "2021-12-10 21:51:32"
"00362" "CSLE" "lissencephaly, cobblestone (CSLE)" "" "" "" "" "" "00006" "2014-03-22 18:55:04" "00006" "2015-12-07 07:11:25"
"03817" "MDDGA10" "dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A10 (MDDGA-10)" "AR" "615041" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"TMEM5" "00362"
"TMEM5" "03817"
## Individuals ## Do not remove or alter this header ##
## Count = 17
"{{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}}"
"00016344" "" "" "" "3" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "" "00y22m" "0" "" "" "" ""
"00016345" "" "" "" "4" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, 2 affected sisters, unaffected carrier parents" "F" "yes" "" "" "0" "" "" "" ""
"00016348" "" "" "00016345" "1" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, sister" "F" "yes" "" "" "0" "" "" "" ""
"00016349" "" "" "00016345" "2" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, unaffected carrier parents" "-" "yes" "" "" "0" "" "" "" ""
"00016350" "" "" "00016344" "2" "" "00006" "{PMID:Jae 2013:23519211}" "2-generation family, unaffected carrier parents" "?" "yes" "" "" "0" "" "" "" ""
"00016351" "" "" "" "3" "" "00006" "{PMID:Vuillaumier-Barrot 2012:23217329}" "2-generation family, 1 affected fetus" "" "?" "France" "" "" "" "" "" ""
"00016352" "" "" "00016351" "2" "" "00006" "" "2-generation family, unaffected carrier parents" "" "?" "France" "" "0" "" "" "" ""
"00016353" "" "" "" "3" "" "00006" "{PMID:Vuillaumier-Barrot 2012:23217329}" "2-generation family, 4 affected fetuses" "" "yes" "France" "" "" "" "" "" ""
"00016354" "" "" "00016353" "2" "" "00006" "" "2-generation family, unaffected carrier parents" "" "yes" "France" "" "0" "" "" "" ""
"00016355" "" "" "" "4" "" "00006" "{PMID:Vuillaumier-Barrot 2012:23217329}" "2-generation family, 2 affected fetuses" "" "no" "France" "" "" "" "" "" ""
"00016356" "" "" "" "3" "" "00006" "{PMID:Vuillaumier-Barrot 2012:23217329}" "2-generation family, 1 affected fetus" "" "no" "France" "" "" "" "" "" ""
"00016357" "" "" "00016356" "1" "" "00006" "" "2-generation family, unaffected carrier parent" "" "no" "France" "" "0" "" "" "" ""
"00016358" "" "" "00016356" "1" "" "00006" "" "2-generation family, unaffected carrier parent" "" "no" "France" "" "0" "" "" "" ""
"00016359" "" "" "" "3" "" "00006" "{PMID:Vuillaumier-Barrot 2012:23217329}" "2-generation family, 1 affected fetus" "" "no" "France" "" "" "" "" "" ""
"00016360" "" "" "00016359" "1" "" "00006" "" "2-generation family, unaffected carrier parent" "" "no" "France" "" "0" "" "" "" ""
"00016361" "" "" "00016359" "1" "" "00006" "" "2-generation family, unaffected carrier parent" "" "no" "France" "" "0" "" "" "" ""
"00426153" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "10MS7800"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 17
"{{individualid}}" "{{diseaseid}}"
"00016344" "00361"
"00016345" "00361"
"00016348" "00361"
"00016349" "00000"
"00016350" "00000"
"00016351" "00362"
"00016352" "00000"
"00016353" "00362"
"00016354" "00000"
"00016355" "00362"
"00016356" "00362"
"00016357" "00000"
"00016358" "00000"
"00016359" "00362"
"00016360" "00000"
"00016361" "00000"
"00426153" "00139"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00361, 00362, 03817
## Count = 9
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000014953" "00361" "00016344" "00006" "Isolated (sporadic)" "" "typical WWS" "" "" "" "" "" "" "" "" ""
"0000014954" "00361" "00016345" "00006" "Isolated (sporadic)" "" "milder WWS; 1y-brainstem atrophy, dilated ventricles, widespread pachygyria, substantial white matter involvement" "" "" "" "" "" "" "" "" ""
"0000014955" "00361" "00016348" "00006" "Isolated (sporadic)" "" "WWS, milder" "" "" "" "" "" "" "" "" ""
"0000014956" "00362" "00016351" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" ""
"0000014957" "00362" "00016353" "00006" "Isolated (sporadic)" "" "neuroglial ectopia within arachnoid space, abnormal cortical lamination, brain stem/cerebellar dysplasia" "" "" "" "" "" "" "" "" ""
"0000014958" "00362" "00016355" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" ""
"0000014959" "00362" "00016356" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" ""
"0000014960" "00362" "00016359" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" ""
"0000317303" "00139" "00426153" "00006" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" "intellectual disability"
## Screenings ## Do not remove or alter this header ##
## Count = 17
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000016282" "00016344" "1" "00006" "00006" "2014-03-22 16:55:59" "" "" "SEQ" "DNA" "" ""
"0000016283" "00016345" "1" "00006" "00006" "2014-03-22 17:02:08" "" "" "SEQ" "DNA" "" ""
"0000016286" "00016348" "1" "00006" "00006" "2014-03-22 18:32:37" "" "" "SEQ" "DNA" "" ""
"0000016287" "00016349" "1" "00006" "00006" "2014-03-22 18:35:25" "" "" "SEQ" "DNA" "" ""
"0000016288" "00016350" "1" "00006" "00006" "2014-03-22 18:37:40" "" "" "SEQ" "DNA" "" ""
"0000016289" "00016351" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016290" "00016352" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016291" "00016353" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016292" "00016354" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016293" "00016355" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "PCRq;SEQ" "DNA" "?" ""
"0000016294" "00016356" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016295" "00016357" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016296" "00016358" "1" "00006" "00006" "2013-04-02 21:35:14" "00006" "2013-04-02 22:06:31" "SEQ" "DNA" "?" ""
"0000016297" "00016359" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016298" "00016360" "1" "00006" "00006" "2013-04-02 21:35:14" "" "" "SEQ" "DNA" "?" ""
"0000016299" "00016361" "1" "00006" "00006" "2013-04-02 21:35:14" "00006" "2013-04-02 22:06:31" "SEQ" "DNA" "?" ""
"0000427473" "00426153" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}" "{{geneid}}"
"0000016282" "TMEM5"
"0000016283" "TMEM5"
"0000016286" "TMEM5"
"0000016287" "TMEM5"
"0000016288" "TMEM5"
"0000016289" "TMEM5"
"0000016290" "TMEM5"
"0000016291" "TMEM5"
"0000016292" "TMEM5"
"0000016293" "TMEM5"
"0000016294" "TMEM5"
"0000016295" "TMEM5"
"0000016296" "TMEM5"
"0000016297" "TMEM5"
"0000016298" "TMEM5"
"0000016299" "TMEM5"
## 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 = 47
"{{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}}"
"0000036064" "3" "95" "12" "64202558" "64202558" "subst" "1.63292E-5" "00006" "TMEM5_000006" "g.64202558C>T" "" "{PMID:Jae 2013:23519211}, {OMIM605862:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63808778C>T" "" "pathogenic" ""
"0000036065" "3" "95" "12" "64173879" "64173879" "del" "0" "00006" "TMEM5_000007" "g.64173879del" "" "{PMID:Jae 2013:23519211}, {OMIM605862:0007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63780099del" "" "pathogenic" ""
"0000036066" "0" "95" "12" "64173879" "64173879" "del" "0" "00006" "TMEM5_000007" "g.64173879del" "" "{PMID:Jae 2013:23519211}, {OMIM605862:0007}" "" "" "expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV" "In vitro (cloned)" "-" "" "0" "" "" "g.63780099del" "" "NA" ""
"0000036067" "0" "95" "12" "64202558" "64202558" "subst" "1.63292E-5" "00006" "TMEM5_000006" "g.64202558C>T" "" "{PMID:Jae 2013:23519211}, {OMIM605862:0006}" "" "" "expression cloning neither restored alpha-DG glycosylation nor enhanced susceptibility to infection with rVSV-GP-LASV" "In vitro (cloned)" "-" "" "0" "" "" "g.63808778C>T" "" "NA" ""
"0000036070" "3" "95" "12" "64173879" "64173879" "del" "0" "00006" "TMEM5_000007" "g.64173879del" "" "{PMID:Jae 2013:23519211}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63780099del" "" "pathogenic" ""
"0000036071" "1" "95" "12" "64173879" "64173879" "del" "0" "00006" "TMEM5_000007" "g.64173879del" "" "{PMID:Jae 2013:23519211}" "" "" "" "Germline" "-" "" "0" "" "" "g.63780099del" "" "pathogenic" ""
"0000036072" "1" "95" "12" "64202558" "64202558" "subst" "1.63292E-5" "00006" "TMEM5_000006" "g.64202558C>T" "" "{PMID:Jae 2013:23519211}" "" "" "" "Germline" "-" "" "0" "" "" "g.63808778C>T" "" "pathogenic" ""
"0000036073" "11" "95" "12" "64174908" "64174908" "del" "0" "00006" "TMEM5_000005" "g.64174908del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0005}" "" "" "" "Germline" "yes" "" "" "" "" "g.63781128del" "" "pathogenic" ""
"0000036074" "1" "95" "12" "64174908" "64174908" "del" "0" "00006" "TMEM5_000005" "g.64174908del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0005}" "" "" "" "Germline" "yes" "" "" "" "" "g.63781128del" "" "pathogenic" ""
"0000036075" "11" "95" "12" "64199065" "64199065" "del" "4.07724E-6" "00006" "TMEM5_000001" "g.64199065del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0001}" "" "" "homozygosity mapping, exome sequencing" "Germline" "yes" "" "" "" "" "g.63805285del" "" "pathogenic" ""
"0000036076" "1" "95" "12" "64199065" "64199065" "del" "4.07724E-6" "00006" "TMEM5_000001" "g.64199065del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0001}" "" "" "" "Germline" "yes" "" "" "" "" "g.63805285del" "" "pathogenic" ""
"0000036077" "1" "95" "12" "64202556" "64202556" "subst" "1.22443E-5" "00006" "TMEM5_000002" "g.64202556A>G" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0002}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808776A>G" "" "pathogenic" ""
"0000036078" "1" "95" "12" "64202556" "64202556" "subst" "1.22443E-5" "00006" "TMEM5_000002" "g.64202556A>G" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0002}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808776A>G" "" "pathogenic" ""
"0000036079" "1" "95" "12" "64202556" "64202556" "subst" "1.22443E-5" "00006" "TMEM5_000002" "g.64202556A>G" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0002}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808776A>G" "" "pathogenic" ""
"0000036080" "1" "95" "12" "64202604" "64202631" "del" "4.06332E-6" "00006" "TMEM5_000004" "g.64202604_64202631del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0004}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808824_63808851del" "" "pathogenic" ""
"0000036081" "1" "95" "12" "64202559" "64202560" "delins" "0" "00006" "TMEM5_000003" "g.64202559_64202560delinsTT" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0003}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808779_63808780delinsTT" "" "pathogenic" ""
"0000036082" "1" "95" "12" "64202559" "64202560" "delins" "0" "00006" "TMEM5_000003" "g.64202559_64202560delinsTT" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0003}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808779_63808780delinsTT" "" "pathogenic" ""
"0000036083" "1" "95" "12" "64202604" "64202631" "del" "4.06332E-6" "00006" "TMEM5_000004" "g.64202604_64202631del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0004}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808824_63808851del" "" "pathogenic" ""
"0000036084" "21" "95" "12" "64174908" "64174908" "del" "0" "00006" "TMEM5_000005" "g.64174908del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0005}" "" "" "" "Germline" "yes" "" "" "" "" "g.63781128del" "" "pathogenic" ""
"0000036085" "21" "95" "12" "64199065" "64199065" "del" "4.07724E-6" "00006" "TMEM5_000001" "g.64199065del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0001}" "" "" "homozygosity mapping, exome sequencing" "Germline" "yes" "" "" "" "" "g.63805285del" "" "pathogenic" ""
"0000036086" "2" "95" "12" "64202556" "64202556" "subst" "1.22443E-5" "00006" "TMEM5_000002" "g.64202556A>G" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0002}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808776A>G" "" "pathogenic" ""
"0000036087" "2" "95" "12" "64202604" "64202631" "del" "4.06332E-6" "00006" "TMEM5_000004" "g.64202604_64202631del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0004}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808824_63808851del" "" "pathogenic" ""
"0000036088" "2" "95" "12" "64202604" "64202631" "del" "4.06332E-6" "00006" "TMEM5_000004" "g.64202604_64202631del" "" "{PMID:Vuillaumier-Barrot 2012:23217329}, {OMIM605862:0004}" "" "" "" "Germline" "yes" "" "" "" "" "g.63808824_63808851del" "" "pathogenic" ""
"0000254621" "0" "30" "12" "64173757" "64173757" "subst" "0.000135677" "01943" "TMEM5_000010" "g.64173757A>G" "" "" "" "TMEM5(NM_014254.2):c.17A>G (p.K6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63779977A>G" "" "likely benign" ""
"0000256171" "0" "50" "12" "64202670" "64202670" "subst" "5.28168E-5" "01943" "TMEM5_000018" "g.64202670A>G" "" "" "" "TMEM5(NM_014254.2):c.1130A>G (p.K377R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63808890A>G" "" "VUS" ""
"0000316729" "0" "50" "12" "64173727" "64173727" "subst" "9.88289E-5" "01943" "TMEM5_000009" "g.64173727G>T" "" "" "" "TMEM5(NM_014254.2):c.-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63779947G>T" "" "VUS" ""
"0000316730" "0" "50" "12" "64173722" "64173722" "subst" "9.89576E-5" "01943" "TMEM5_000008" "g.64173722G>A" "" "" "" "TMEM5(NM_014254.2):c.-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63779942G>A" "" "VUS" ""
"0000316731" "0" "10" "12" "64202890" "64202890" "subst" "0.119149" "01943" "TMEM5_000019" "g.64202890C>G" "" "" "" "TMEM5(NM_014254.2):c.*18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63809110C>G" "" "benign" ""
"0000316732" "0" "10" "12" "64202891" "64202892" "del" "0.0436147" "01943" "TMEM5_000020" "g.64202891_64202892del" "" "" "" "TMEM5(NM_014254.2):c.*19_*20delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63809111_63809112del" "" "benign" ""
"0000316733" "0" "30" "12" "64174881" "64174881" "subst" "0.00112776" "01943" "TMEM5_000014" "g.64174881C>T" "" "" "" "RXYLT1(NM_014254.2):c.252C>T (p.S84=), RXYLT1(NM_014254.3):c.252C>T (p.S84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63781101C>T" "" "likely benign" ""
"0000316734" "0" "30" "12" "64173781" "64173781" "subst" "0" "01943" "TMEM5_000011" "g.64173781C>T" "" "" "" "TMEM5(NM_014254.2):c.41C>T (p.A14V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63780001C>T" "" "likely benign" ""
"0000316735" "0" "30" "12" "64173783" "64173783" "subst" "1.64101E-5" "01943" "TMEM5_000012" "g.64173783C>T" "" "" "" "RXYLT1(NM_014254.2):c.43C>T (p.L15=), TMEM5(NM_014254.2):c.43C>T (p.L15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63780003C>T" "" "likely benign" ""
"0000316736" "0" "30" "12" "64196045" "64196045" "subst" "0.00728473" "01943" "TMEM5_000015" "g.64196045C>T" "" "" "" "RXYLT1(NM_014254.2):c.603C>T (p.L201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63802265C>T" "" "likely benign" ""
"0000316737" "0" "10" "12" "64173807" "64173807" "subst" "0.087328" "01943" "TMEM5_000013" "g.64173807G>A" "" "" "" "TMEM5(NM_014254.2):c.67G>A (p.A23T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63780027G>A" "" "benign" ""
"0000316738" "0" "30" "12" "64199095" "64199095" "subst" "0.000574764" "01943" "TMEM5_000016" "g.64199095G>A" "" "" "" "RXYLT1(NM_014254.2):c.825G>A (p.T275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63805315G>A" "" "likely benign" ""
"0000316739" "0" "30" "12" "64199152" "64199152" "subst" "4.58934E-5" "01943" "TMEM5_000017" "g.64199152C>T" "" "" "" "RXYLT1(NM_014254.2):c.882C>T (p.N294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63805372C>T" "" "likely benign" ""
"0000548930" "0" "30" "12" "64173866" "64173866" "subst" "9.5157E-5" "01943" "TMEM5_000021" "g.64173866C>G" "" "" "" "TMEM5(NM_014254.2):c.126C>G (p.G42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63780086C>G" "" "likely benign" ""
"0000548931" "0" "30" "12" "64202648" "64202648" "subst" "8.12671E-6" "01804" "TMEM5_000022" "g.64202648G>A" "" "" "" "TMEM5(NM_001278237.1):c.328G>A (p.(Gly110Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63808868G>A" "" "likely benign" ""
"0000548932" "0" "30" "12" "64202865" "64202865" "subst" "0" "01943" "TMEM5_000023" "g.64202865A>G" "" "" "" "TMEM5(NM_014254.2):c.1325A>G (p.K442R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63809085A>G" "" "likely benign" ""
"0000614353" "0" "50" "12" "64174938" "64174938" "subst" "0" "01804" "TMEM5_000024" "g.64174938G>A" "" "" "" "RXYLT1(NM_014254.3):c.309G>A (p.(Trp103*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63781158G>A" "" "VUS" ""
"0000679623" "0" "30" "12" "64174881" "64174881" "subst" "0.00112776" "02326" "TMEM5_000014" "g.64174881C>T" "" "" "" "RXYLT1(NM_014254.2):c.252C>T (p.S84=), RXYLT1(NM_014254.3):c.252C>T (p.S84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000904833" "3" "70" "12" "64199190" "64199190" "subst" "9.35025E-6" "00006" "TMEM5_000025" "g.64199190T>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs748809209" "0" "" "" "g.63805410T>G" "VCV000429848.4" "VUS" ""
"0000967037" "0" "30" "12" "64202766" "64202766" "subst" "0.00148017" "01943" "TMEM5_000026" "g.64202766A>G" "" "" "" "TMEM5(NM_001278237.1):c.446A>G (p.E149G), TMEM5(NM_014254.2):c.1226A>G (p.E409G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980419" "0" "50" "12" "64174834" "64174834" "subst" "0" "01804" "TMEM5_000027" "g.64174834T>C" "" "" "" "RXYLT1(NM_014254.3):c.205T>C (p.(Trp69Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980420" "0" "50" "12" "64202705" "64202705" "subst" "0" "01804" "TMEM5_000028" "g.64202705T>G" "" "" "" "RXYLT1(NM_014254.3):c.1165T>G (p.(Trp389Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026226" "0" "30" "12" "64174904" "64174904" "subst" "0.00476325" "01943" "TMEM5_000029" "g.64174904C>T" "" "" "" "TMEM5(NM_014254.2):c.275C>T (p.T92M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039409" "0" "30" "12" "64178747" "64178747" "subst" "0" "01804" "TMEM5_000030" "g.64178747C>T" "" "" "" "RXYLT1(NM_014254.3):c.326-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes TMEM5
## Count = 47
"{{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}}"
"0000036064" "00021253" "95" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340*)" "6"
"0000036065" "00021253" "95" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(Ala47Argfs*42)" "1"
"0000036066" "00021253" "95" "139" "0" "139" "0" "c.139del" "r.(?)" "p.Ala47Argfs*42" "1"
"0000036067" "00021253" "95" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.Arg340*" "5"
"0000036070" "00021253" "95" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(Ala47Argfs*42)" "1"
"0000036071" "00021253" "95" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(Ala47Argfs*42)" "1"
"0000036072" "00021253" "95" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340*)" "6"
"0000036073" "00021253" "95" "279" "0" "279" "0" "c.279del" "r.(?)" "p.(Gly94Glufs*33)" "2"
"0000036074" "00021253" "95" "279" "0" "279" "0" "c.279del" "r.(?)" "p.(Gly94Glufs*33)" "2"
"0000036075" "00021253" "95" "795" "0" "795" "0" "c.795del" "r.(?)" "p.(Arg266Glyfs*8)" "5"
"0000036076" "00021253" "95" "795" "0" "795" "0" "c.795del" "r.(?)" "p.(Arg266Glyfs*8)" "5"
"0000036077" "00021253" "95" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "6"
"0000036078" "00021253" "95" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "6"
"0000036079" "00021253" "95" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "6"
"0000036080" "00021253" "95" "1064" "0" "1091" "0" "c.1064_1091del" "r.(?)" "p.(Asp355Valfs*33)" "6"
"0000036081" "00021253" "95" "1019" "0" "1020" "0" "c.1019_1020delinsTT" "r.(?)" "p.(Arg340Leu)" "6"
"0000036082" "00021253" "95" "1019" "0" "1020" "0" "c.1019_1020delinsTT" "r.(?)" "p.(Arg340Leu)" "6"
"0000036083" "00021253" "95" "1064" "0" "1091" "0" "c.1064_1091del" "r.(?)" "p.(Asp355Valfs*33)" "6"
"0000036084" "00021253" "95" "279" "0" "279" "0" "c.279del" "r.(?)" "p.(Gly94Glufs*33)" "2"
"0000036085" "00021253" "95" "795" "0" "795" "0" "c.795del" "r.(?)" "p.(Arg266Glyfs*8)" "5"
"0000036086" "00021253" "95" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "6"
"0000036087" "00021253" "95" "1064" "0" "1091" "0" "c.1064_1091del" "r.(?)" "p.(Asp355Valfs*33)" "6"
"0000036088" "00021253" "95" "1064" "0" "1091" "0" "c.1064_1091del" "r.(?)" "p.(Asp355Valfs*33)" "6"
"0000254621" "00021253" "30" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(Lys6Arg)" ""
"0000256171" "00021253" "50" "1130" "0" "1130" "0" "c.1130A>G" "r.(?)" "p.(Lys377Arg)" ""
"0000316729" "00021253" "50" "-14" "0" "-14" "0" "c.-14G>T" "r.(?)" "p.(=)" ""
"0000316730" "00021253" "50" "-19" "0" "-19" "0" "c.-19G>A" "r.(?)" "p.(=)" ""
"0000316731" "00021253" "10" "1350" "0" "1350" "0" "c.*18C>G" "r.(=)" "p.(=)" ""
"0000316732" "00021253" "10" "1351" "0" "1352" "0" "c.*19_*20del" "r.(=)" "p.(=)" ""
"0000316733" "00021253" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Ser84=)" ""
"0000316734" "00021253" "30" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ala14Val)" ""
"0000316735" "00021253" "30" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Leu15=)" ""
"0000316736" "00021253" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Leu201=)" ""
"0000316737" "00021253" "10" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" ""
"0000316738" "00021253" "30" "825" "0" "825" "0" "c.825G>A" "r.(?)" "p.(Thr275=)" ""
"0000316739" "00021253" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Asn294=)" ""
"0000548930" "00021253" "30" "126" "0" "126" "0" "c.126C>G" "r.(?)" "p.(Gly42=)" ""
"0000548931" "00021253" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Gly370Ser)" ""
"0000548932" "00021253" "30" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Lys442Arg)" ""
"0000614353" "00021253" "50" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Trp103Ter)" ""
"0000679623" "00021253" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Ser84=)" ""
"0000904833" "00021253" "70" "914" "6" "914" "6" "c.914+6T>G" "r.spl?" "p.?" ""
"0000967037" "00021253" "30" "1226" "0" "1226" "0" "c.1226A>G" "r.(?)" "p.(Glu409Gly)" ""
"0000980419" "00021253" "50" "205" "0" "205" "0" "c.205T>C" "r.(?)" "p.(Trp69Arg)" ""
"0000980420" "00021253" "50" "1165" "0" "1165" "0" "c.1165T>G" "r.(?)" "p.(Trp389Gly)" ""
"0001026226" "00021253" "30" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Met)" ""
"0001039409" "00021253" "30" "326" "-3" "326" "-3" "c.326-3C>T" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 22
"{{screeningid}}" "{{variantid}}"
"0000016282" "0000036064"
"0000016283" "0000036065"
"0000016286" "0000036070"
"0000016287" "0000036071"
"0000016288" "0000036072"
"0000016289" "0000036073"
"0000016289" "0000036084"
"0000016290" "0000036074"
"0000016291" "0000036075"
"0000016291" "0000036085"
"0000016292" "0000036076"
"0000016293" "0000036077"
"0000016293" "0000036086"
"0000016294" "0000036078"
"0000016294" "0000036087"
"0000016295" "0000036079"
"0000016296" "0000036080"
"0000016297" "0000036081"
"0000016297" "0000036088"
"0000016298" "0000036082"
"0000016299" "0000036083"
"0000427473" "0000904833"