### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MECR) # 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}}" "MECR" "mitochondrial trans-2-enoyl-CoA reductase" "1" "p35.3" "unknown" "NC_000001.10" "UD_132319043218" "" "https://www.LOVD.nl/MECR" "" "1" "19691" "51102" "608205" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MECR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-23 19:28:38" "00006" "2025-12-19 18:53:31" ## 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}}" "00011949" "MECR" "transcript variant 1" "001" "NM_016011.2" "" "NP_057095.2" "" "" "" "-36" "2271" "1122" "29557454" "29519385" "" "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}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05614" "DYTOABG" "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)" "AR" "617282" "" "autosomal recessive" "" "00006" "2019-06-19 19:05:46" "00006" "2021-12-10 21:51:32" "07051" "OPA16" "atrophy, optic, type 16" "" "620629" "" "" "" "00006" "2023-12-23 19:30:10" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MECR" "05614" "MECR" "07051" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00240406" "" "" "" "2" "" "00006" "{PMID:Fresard 2019:31160820}" "2-generation family, 2 affected brothers" "M" "" "Canada" "" "0" "" "" "" "example 1" "00240409" "" "" "" "1" "" "00006" "{PMID:Heimer 2016:27817865}" "2-generation family, 1 affected" "M" "no" "" "" "0" "" "" "Jewish-Ashkenazi " "FamA" "00240410" "" "" "" "1" "" "00006" "{PMID:Heimer 2016:27817865}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Jewish-Ashkenaiz;Morocco;India" "FamB" "00240411" "" "" "" "2" "" "00006" "{PMID:Heimer 2016:27817865}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Jewish-Ashkenazi " "FamCPatII2" "00240412" "" "" "00240411" "1" "" "00006" "{PMID:Heimer 2016:27817865}" "Pat2" "M" "no" "" "" "0" "" "" "Jewish-Ashkenazi " "FamCPatII8" "00240413" "" "" "" "1" "" "00006" "{PMID:Heimer 2016:27817865}" "2-generation family, 1 affected" "F" "no" "Tunisia" "" "0" "" "" "" "FamD" "00240414" "" "" "" "2" "" "00006" "{PMID:Heimer 2016:27817865}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Anglo-Saxon" "FamEPatII1" "00240415" "" "" "00240414" "1" "" "00006" "{PMID:Heimer 2016:27817865}" "Pat2" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Anglo-Saxon" "FamEPatII3" "00444385" "" "" "" "2" "" "00006" "{PMID:Fiorini 2023:37734847}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "Italy" "" "0" "" "" "" "FamPatII1/2" "00471297" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "IS-DYS-434" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00240406" "00198" "00240409" "00108" "00240410" "00108" "00240411" "00108" "00240412" "00108" "00240413" "00108" "00240414" "00108" "00240415" "00108" "00444385" "04293" "00471297" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 04293, 05614, 07051 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}" "0000180470" "00198" "00240406" "00006" "Familial, autosomal recessive" "" "6m-delayed motor milestones, hypotonia evolving to spasticity, ataxic gait, progressive loss of motor skills" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "delayed motor milestones" "" "" "0000180473" "00108" "00240409" "00006" "Familial, autosomal recessive" "48y" "see paper; …, onset dystonia early childhood, onset optic atrophy mid childhood, no intellectual disability; MRI bilateral hyperintense T2 signal putamen" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000180474" "00108" "00240410" "00006" "Familial, autosomal recessive" "00y24m" "see paper; …, 15m-onset dystonia; no optic atrophy, no intellectual disability; MRI bilateral hyperintense pallidal T2 signal" "00y15m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000180475" "00108" "00240411" "00006" "Familial, autosomal recessive" "27y" "see paper; …, 2y-3y-onset dystonia; 8y onset optic atrophy, no intellectual disability; MRI bilateral hyperintense T2 signal dorsal striatum" "02y-03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000180476" "00108" "00240412" "00006" "Familial, autosomal recessive" "45y" "see paper; …, 5y-onset dystonia; 12y onset optic atrophy, no intellectual disability" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000180477" "00108" "00240413" "00006" "Familial, autosomal recessive" "07y" "see paper; …, 6y6m-onset dystonia; 6y6m-onset optic atrophy, no intellectual disability (mild concentration difficulties); MRI bilateral hyperintense T2 signal dorsal putamen" "06y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000180478" "00108" "00240414" "00006" "Familial, autosomal recessive" "16y" "see paper; …, 23m-onset dystonia; 6y-onset optic atrophy; deterioration linguistic skills and executive functions to extremely low range (9y); MRI bilateral hyperintense pallidal T2 signal with cavitation and lactate peak on MRS" "00y23m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000180479" "00108" "00240415" "00006" "Familial, autosomal recessive" "12y" "see paper; …, 3y-onset dystonia; 5y-onset optic atrophy; low average verbal comprehension with extremely low function on other WISC IV indices; MRI bilateral hyperintense pallidal T2 signal with lactate peak on MRS" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" "0000333638" "04293" "00444385" "00006" "Familial, autosomal recessive" "" "see paper; ..., sudden and painless visual loss at young age, partial recovery and persistent central scotoma; 6y-low vision; 12y-headache" "06y" "" "" "" "" "" "low vision" "" "" "" "" "" "" "" "" "" "" "" "" "Leber’s hereditary optic neuropathy" "" "" "0000356134" "00108" "00471297" "00006" "Familial, autosomal recessive" "" "isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DYTOABG" "dystonia" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241516" "00240406" "1" "00006" "00006" "2019-06-19 19:06:37" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000241519" "00240409" "1" "00006" "00006" "2019-06-19 19:58:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241520" "00240410" "1" "00006" "00006" "2019-06-19 19:58:50" "00006" "2019-06-19 20:54:19" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000241521" "00240411" "1" "00006" "00006" "2019-06-19 19:58:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241522" "00240412" "1" "00006" "00006" "2019-06-19 19:58:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241523" "00240413" "1" "00006" "00006" "2019-06-19 19:58:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241524" "00240414" "1" "00006" "00006" "2019-06-19 19:58:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241525" "00240415" "1" "00006" "00006" "2019-06-19 19:58:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445953" "00444385" "1" "00006" "00006" "2023-12-23 19:48:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472967" "00471297" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000241516" "MECR" "0000241519" "MECR" "0000241520" "MECR" "0000241521" "MECR" "0000241522" "MECR" "0000241523" "MECR" "0000241524" "MECR" "0000241525" "MECR" ## 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 = 33 "{{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}}" "0000291684" "0" "30" "1" "29528531" "29528531" "subst" "0.00179485" "01943" "MECR_000002" "g.29528531C>T" "" "" "" "MECR(NM_001024732.1):c.452G>A (p.(Arg151Lys)), MECR(NM_001024732.3):c.452G>A (p.R151K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29202019C>T" "" "likely benign" "" "0000291685" "0" "30" "1" "29520542" "29520542" "subst" "0.000605283" "01943" "MECR_000001" "g.29520542T>C" "" "" "" "MECR(NM_001024732.3):c.886A>G (p.T296A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29194030T>C" "" "likely benign" "" "0000487517" "1" "90" "1" "29557457" "29557457" "subst" "0" "00006" "MECR_000003" "g.29557457C>G" "" "{PMID:Fresard 2019:31160820}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29230945C>G" "" "pathogenic (recessive)" "" "0000487518" "1" "90" "1" "29527026" "29527026" "dup" "0" "00006" "MECR_000004" "g.29527026dup" "" "{PMID:Fresard 2019:31160820}" "" "830+2dupT" "" "Germline" "yes" "" "0" "" "" "g.29200514dup" "" "pathogenic (recessive)" "" "0000487523" "1" "90" "1" "29528516" "29528516" "subst" "6.90316E-5" "00006" "MECR_000005" "g.29528516C>T" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "" "" "0" "" "" "g.29202004C>T" "" "pathogenic (recessive)" "" "0000487524" "11" "90" "1" "29528516" "29528516" "subst" "6.90316E-5" "00006" "MECR_000005" "g.29528516C>T" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "" "" "0" "" "" "g.29202004C>T" "" "pathogenic (recessive)" "" "0000487525" "1" "90" "1" "29528516" "29528516" "subst" "6.90316E-5" "00006" "MECR_000005" "g.29528516C>T" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29202004C>T" "" "pathogenic (recessive)" "" "0000487526" "1" "90" "1" "29528516" "29528516" "subst" "6.90316E-5" "00006" "MECR_000005" "g.29528516C>T" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29202004C>T" "" "pathogenic (recessive)" "" "0000487527" "3" "90" "1" "29522747" "29522747" "subst" "1.22214E-5" "00006" "MECR_000007" "g.29522747T>C" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "" "" "0" "" "" "g.29196235T>C" "" "pathogenic (recessive)" "" "0000487528" "1" "90" "1" "29527086" "29527086" "subst" "7.721E-5" "00006" "MECR_000008" "g.29527086G>A" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29200574G>A" "" "pathogenic (recessive)" "" "0000487529" "1" "90" "1" "29527086" "29527086" "subst" "7.721E-5" "00006" "MECR_000008" "g.29527086G>A" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29200574G>A" "" "pathogenic (recessive)" "" "0000487530" "2" "90" "1" "29522746" "29522746" "subst" "0" "00006" "MECR_000006" "g.29522746A>C" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "" "" "0" "" "" "g.29196234A>C" "" "pathogenic (recessive)" "" "0000487531" "21" "90" "1" "29527026" "29527026" "dup" "0" "00006" "MECR_000004" "g.29527026dup" "" "{PMID:Heimer 2016:27817865}" "" "830+2InsT" "" "Germline" "" "" "0" "" "" "g.29200514dup" "" "pathogenic (recessive)" "" "0000487532" "2" "90" "1" "29527026" "29527026" "dup" "0" "00006" "MECR_000004" "g.29527026dup" "" "{PMID:Heimer 2016:27817865}" "" "830+2InsT" "" "Germline" "yes" "" "0" "" "" "g.29200514dup" "" "pathogenic (recessive)" "" "0000487533" "2" "90" "1" "29527026" "29527026" "dup" "0" "00006" "MECR_000004" "g.29527026dup" "" "{PMID:Heimer 2016:27817865}" "" "830+2InsT" "" "Germline" "yes" "" "0" "" "" "g.29200514dup" "" "pathogenic (recessive)" "" "0000487534" "2" "90" "1" "29543127" "29543130" "del" "0" "00006" "MECR_000009" "g.29543127_29543130del" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29216615_29216618del" "" "pathogenic (recessive)" "" "0000487535" "2" "90" "1" "29543127" "29543130" "del" "0" "00006" "MECR_000009" "g.29543127_29543130del" "" "{PMID:Heimer 2016:27817865}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29216615_29216618del" "" "pathogenic (recessive)" "" "0000507036" "0" "10" "1" "29527085" "29527085" "subst" "0.000934617" "01943" "MECR_000011" "g.29527085C>A" "" "" "" "MECR(NM_001024732.3):c.545G>T (p.R182L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29200573C>A" "" "benign" "" "0000507037" "0" "50" "1" "29529700" "29529700" "subst" "0" "01943" "MECR_000012" "g.29529700G>A" "" "" "" "MECR(NM_001024732.3):c.368C>T (p.A123V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29203188G>A" "" "VUS" "" "0000507039" "0" "30" "1" "29543155" "29543155" "subst" "8.12222E-5" "01943" "MECR_000014" "g.29543155G>A" "" "" "" "MECR(NM_001349715.1):c.324C>T (p.V108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29216643G>A" "" "likely benign" "" "0000507040" "0" "30" "1" "29557343" "29557343" "subst" "4.37449E-6" "01804" "MECR_000015" "g.29557343A>C" "" "" "" "MECR(NM_001024732.2):c.-280T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29230831A>C" "" "likely benign" "" "0000605662" "0" "30" "1" "29528541" "29528541" "subst" "0.00138879" "01943" "MECR_000016" "g.29528541G>A" "" "" "" "MECR(NM_001349712.1):c.442C>T (p.L148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29202029G>A" "" "likely benign" "" "0000620601" "0" "50" "1" "29529639" "29529639" "subst" "0" "01943" "MECR_000017" "g.29529639G>A" "" "" "" "MECR(NM_001349712.1):c.425+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29203127G>A" "" "VUS" "" "0000620602" "0" "50" "1" "29542582" "29542582" "subst" "0.000268036" "01943" "MECR_000018" "g.29542582G>A" "" "" "" "MECR(NM_001349712.1):c.113C>T (p.A38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29216070G>A" "" "VUS" "" "0000654003" "0" "30" "1" "29533404" "29533404" "subst" "0.000146293" "01943" "MECR_000019" "g.29533404G>A" "" "" "" "MECR(NM_001349712.1):c.192C>T (p.T64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29206892G>A" "" "likely benign" "" "0000799310" "0" "50" "1" "29543325" "29543325" "subst" "0" "01943" "MECR_000020" "g.29543325C>A" "" "" "" "MECR(NM_001349712.1):c.-179-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954162" "3" "90" "1" "29527086" "29527086" "subst" "7.721E-5" "00006" "MECR_000008" "g.29527086G>A" "" "{PMID:Fiorini 2023:37734847}" "" "" "" "Germline" "yes" "" "0" "" "" "g.29200574G>A" "" "pathogenic (recessive)" "ACMG" "0000991141" "0" "50" "1" "29520646" "29520646" "subst" "1.62825E-5" "01804" "MECR_000021" "g.29520646C>T" "" "" "" "MECR(NM_001024732.1):c.782G>A (p.(Arg261Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991142" "0" "30" "1" "29528531" "29528531" "subst" "0.00179485" "01804" "MECR_000002" "g.29528531C>T" "" "" "" "MECR(NM_001024732.1):c.452G>A (p.(Arg151Lys)), MECR(NM_001024732.3):c.452G>A (p.R151K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024157" "0" "50" "1" "29542582" "29542582" "subst" "0.000268036" "02327" "MECR_000018" "g.29542582G>A" "" "" "" "MECR(NM_001349712.1):c.113C>T (p.A38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050036" "0" "90" "1" "29527026" "29527026" "dup" "0" "01804" "MECR_000004" "g.29527026dup" "" "" "" "MECR(NM_016011.5):c.830+2dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001061711" "1" "90" "1" "29529746" "29529746" "del" "0" "00006" "MECR_000022" "g.29529746del" "" "{PMID:Zech 2020:33098801}" "" "553delG" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.29203234del" "" "pathogenic (recessive)" "ACMG" "0001061804" "2" "90" "1" "29527086" "29527086" "subst" "7.721E-5" "00006" "MECR_000008" "g.29527086G>A" "" "{PMID:Zech 2020:33098801}" "" "" "" "Germline" "" "" "0" "" "" "g.29200574G>A" "" "pathogenic (recessive)" "" ## 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 MECR ## Count = 33 "{{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}}" "0000291684" "00011949" "30" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Lys)" "" "0000291685" "00011949" "30" "1114" "0" "1114" "0" "c.1114A>G" "r.(?)" "p.(Thr372Ala)" "" "0000487517" "00011949" "90" "-39" "0" "-39" "0" "c.-39G>C" "r.?" "p.?" "" "0000487518" "00011949" "90" "830" "2" "830" "2" "c.830+2dup" "r.spl" "p.?" "" "0000487523" "00011949" "90" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Glu)" "" "0000487524" "00011949" "90" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Glu)" "" "0000487525" "00011949" "90" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Glu)" "" "0000487526" "00011949" "90" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Gly232Glu)" "" "0000487527" "00011949" "90" "854" "0" "854" "0" "c.854A>G" "r.(?)" "p.(Tyr285Cys)" "" "0000487528" "00011949" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000487529" "00011949" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000487530" "00011949" "90" "855" "0" "855" "0" "c.855T>G" "r.(?)" "p.(Tyr285*)" "" "0000487531" "00011949" "90" "830" "2" "830" "2" "c.830+2dup" "r.[830_831ins[guu;830+3_831-1],757_830del]" "p.[Arg278fs,Asp253fs]" "" "0000487532" "00011949" "90" "830" "2" "830" "2" "c.830+2dup" "r.spl" "p.?" "" "0000487533" "00011949" "90" "830" "2" "830" "2" "c.830+2dup" "r.spl" "p.?" "" "0000487534" "00011949" "90" "247" "0" "250" "0" "c.247_250del" "r.(?)" "p.(Asn83Hisfs*4)" "" "0000487535" "00011949" "90" "247" "0" "250" "0" "c.247_250del" "r.(?)" "p.(Asn83Hisfs*4)" "" "0000507036" "00011949" "10" "773" "0" "773" "0" "c.773G>T" "r.(?)" "p.(Arg258Leu)" "" "0000507037" "00011949" "50" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "" "0000507039" "00011949" "30" "219" "0" "219" "0" "c.219C>T" "r.(?)" "p.(Val73=)" "" "0000507040" "00011949" "30" "76" "0" "76" "0" "c.76T>G" "r.(?)" "p.(Cys26Gly)" "" "0000605662" "00011949" "30" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Leu224=)" "" "0000620601" "00011949" "50" "653" "4" "653" "4" "c.653+4C>T" "r.spl?" "p.?" "" "0000620602" "00011949" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Ala114Val)" "" "0000654003" "00011949" "30" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Thr140=)" "" "0000799310" "00011949" "50" "177" "-128" "177" "-128" "c.177-128G>T" "r.(=)" "p.(=)" "" "0000954162" "00011949" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000991141" "00011949" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "0000991142" "00011949" "30" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Lys)" "" "0001024157" "00011949" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Ala114Val)" "" "0001050036" "00011949" "90" "830" "2" "830" "2" "c.830+2dup" "r.spl?" "p.?" "" "0001061711" "00011949" "90" "553" "0" "553" "0" "c.553del" "r.(?)" "p.(Asp185IlefsTer25)" "" "0001061804" "00011949" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000241516" "0000487517" "0000241516" "0000487518" "0000241519" "0000487523" "0000241519" "0000487530" "0000241520" "0000487524" "0000241520" "0000487531" "0000241521" "0000487525" "0000241521" "0000487532" "0000241522" "0000487526" "0000241522" "0000487533" "0000241523" "0000487527" "0000241524" "0000487528" "0000241524" "0000487534" "0000241525" "0000487529" "0000241525" "0000487535" "0000445953" "0000954162" "0000472967" "0001061711" "0000472967" "0001061804"