### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C10orf137)
# 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}}"
"C10orf137" "chromosome 10 open reading frame 137" "10" "q26.2" "unknown" "NC_000010.10" "UD_132319396558" "" "http://www.LOVD.nl/EDRF1" "" "1" "24640" "26098" "0" "1" "1" "1" "1" "NOTE: gene name changed from C10orf137 to EDRF1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C10orf137 to EDRF1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-28 10:17:33" "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}}"
"00003940" "C10orf137" "transcript variant 2" "002" "NM_015608.2" "" "NP_056423.2" "" "" "" "-293" "4286" "3615" "127408084" "127452712" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"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"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00426180" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "yes" "Oman" "" "0" "" "" "" "10DK15000"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00050476" "00198"
"00426180" "00139"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198
## Count = 2
"{{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}}"
"0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" ""
"0000317330" "00139" "00426180" "00006" "Familial, autosomal recessive" "12y" "Intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000427500" "00426180" "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 = 0
## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 16
"{{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}}"
"0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000275912" "0" "50" "10" "127434380" "127434390" "del" "0" "01943" "C10orf137_000001" "g.127434380_127434390del" "" "" "" "EDRF1(NM_001202438.2):c.2695_2705delGCCGCCCTTTT (p.A899Ifs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125745811_125745821del" "" "VUS" ""
"0000539484" "0" "70" "10" "127456139" "127456139" "subst" "0.000158529" "01804" "C10orf137_000002" "g.127456139G>A" "" "" "" "MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125767570G>A" "" "likely pathogenic" ""
"0000539485" "0" "10" "10" "127456150" "127456150" "subst" "0.00661065" "02327" "C10orf137_000003" "g.127456150G>A" "" "" "" "MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125767581G>A" "" "benign" ""
"0000622355" "0" "90" "10" "127456139" "127456139" "subst" "0.000158529" "02325" "C10orf137_000002" "g.127456139G>A" "" "" "" "MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125767570G>A" "" "pathogenic" ""
"0000656444" "0" "30" "10" "127442257" "127442257" "subst" "4.87361E-5" "01804" "C10orf137_000004" "g.127442257T>C" "" "" "" "EDRF1(NM_001202438.1):c.3394-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125753688T>C" "" "likely benign" ""
"0000690672" "0" "50" "10" "127455397" "127455397" "subst" "4.06293E-5" "02325" "C10orf137_000005" "g.127455397T>C" "" "" "" "MMP21(NM_147191.1):c.1544A>G (p.Y515C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804339" "0" "50" "10" "127422239" "127422239" "subst" "4.07087E-6" "01943" "C10orf137_000006" "g.127422239A>C" "" "" "" "EDRF1(NM_015608.2):c.1210A>C (p.T404P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804340" "0" "30" "10" "127438014" "127438014" "subst" "0.00116223" "01943" "C10orf137_000007" "g.127438014G>A" "" "" "" "EDRF1(NM_015608.2):c.3055G>A (p.V1019M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000852433" "0" "90" "10" "127456139" "127456139" "subst" "0.000158529" "02326" "C10orf137_000002" "g.127456139G>A" "" "" "" "MMP21(NM_147191.1):c.1372C>T (p.(Arg458Ter), p.R458*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000861853" "0" "50" "10" "127424226" "127424226" "subst" "0" "01943" "C10orf137_000008" "g.127424226C>A" "" "" "" "EDRF1(NM_015608.2):c.1409C>A (p.A470D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861854" "0" "10" "10" "127456130" "127456130" "subst" "0.0014636" "02326" "MMP21_000015" "g.127456130T>C" "" "" "" "MMP21(NM_147191.1):c.1381A>G (p.K461E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000904860" "3" "70" "10" "127434275" "127434275" "subst" "0" "00006" "C10orf137_000009" "g.127434275G>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001202438.2:c.2591-1G>A (?)" "reported as candidate disease gene" "Germline" "" "" "0" "" "" "g.125745706G>A" "" "VUS" ""
"0000978938" "0" "30" "10" "127456150" "127456150" "subst" "0.00661065" "01804" "C10orf137_000003" "g.127456150G>A" "" "" "" "MMP21(NM_147191.1):c.1361C>T (p.(Ala454Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001037783" "0" "50" "10" "127456240" "127456240" "subst" "4.06223E-6" "01804" "C10orf137_000010" "g.127456240T>A" "" "" "" "MMP21(NM_147191.1):c.1271A>T (p.(Asp424Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053735" "0" "50" "10" "127456095" "127456095" "subst" "4.08637E-6" "01804" "C10orf137_000011" "g.127456095A>G" "" "" "" "MMP21(NM_147191.1):c.1410+6T>C" "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 C10orf137
## Count = 16
"{{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}}"
"0000079401" "00003940" "00" "-4257566" "0" "7932509" "0" "c.-4257566_*7928894dup" "" "" ""
"0000275912" "00003940" "50" "2593" "0" "2603" "0" "c.2593_2603del" "r.(?)" "p.(Ala865IlefsTer3)" ""
"0000539484" "00003940" "70" "7713" "0" "7713" "0" "c.*4098G>A" "r.(=)" "p.(=)" ""
"0000539485" "00003940" "10" "7724" "0" "7724" "0" "c.*4109G>A" "r.(=)" "p.(=)" ""
"0000622355" "00003940" "90" "7713" "0" "7713" "0" "c.*4098G>A" "r.(=)" "p.(=)" ""
"0000656444" "00003940" "30" "3292" "-6" "3292" "-6" "c.3292-6T>C" "r.(=)" "p.(=)" ""
"0000690672" "00003940" "50" "6971" "0" "6971" "0" "c.*3356T>C" "r.(=)" "p.(=)" ""
"0000804339" "00003940" "50" "1210" "0" "1210" "0" "c.1210A>C" "r.(?)" "p.(Thr404Pro)" ""
"0000804340" "00003940" "30" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Val1019Met)" ""
"0000852433" "00003940" "90" "7713" "0" "7713" "0" "c.*4098G>A" "r.(=)" "p.(=)" ""
"0000861853" "00003940" "50" "1409" "0" "1409" "0" "c.1409C>A" "r.(?)" "p.(Ala470Asp)" ""
"0000861854" "00003940" "10" "7704" "0" "7704" "0" "c.*4089T>C" "r.(=)" "p.(=)" ""
"0000904860" "00003940" "70" "2489" "-1" "2489" "-1" "c.2489-1G>A" "" "" ""
"0000978938" "00003940" "30" "7724" "0" "7724" "0" "c.*4109G>A" "r.(=)" "p.(=)" ""
"0001037783" "00003940" "50" "7814" "0" "7814" "0" "c.*4199T>A" "r.(=)" "p.(=)" ""
"0001053735" "00003940" "50" "7669" "0" "7669" "0" "c.*4054A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000050421" "0000079401"
"0000427500" "0000904860"