### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCCC2) # 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}}" "MCCC2" "methylcrotonoyl-CoA carboxylase 2 (beta)" "5" "q12-q13" "unknown" "NG_008882.1" "UD_132118661274" "" "https://www.LOVD.nl/MCCC2" "" "1" "6937" "64087" "609014" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MCCC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-21 17:50:18" "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}}" "00011893" "MCCC2" "methylcrotonoyl-CoA carboxylase 2 (beta)" "001" "NM_022132.4" "" "NP_071415.1" "" "" "" "-138" "3536" "1692" "70883115" "70954531" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01677" "MCC1D" "3 methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)" "AR" "210200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01678" "MCC2D" "3-methylcrotonyl CoA carboxylase 2 deficiency (MCC2D)" "AR" "210210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MCCC2" "01678" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00181036" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181037" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00293895" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293896" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293897" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315504" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "33y" "" "" "" "Europe" "SUDS112" "00374613" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0563" "00380765" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00403761" "" "" "" "1" "" "00006" "{PMID:Stucki 2009:19706617}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Switzerland" "" "0" "" "" "" "MCC019" "00451602" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely consanguinity" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-059" "00452195" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452196" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453627" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat43" "00453628" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat44" "00453629" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat45" "00453630" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat46" "00453631" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat47" "00453632" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat48" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00181036" "01678" "00181037" "01678" "00293895" "00198" "00293896" "00198" "00293897" "00198" "00315504" "05166" "00374613" "00198" "00380765" "01677" "00403761" "01678" "00451602" "01678" "00452195" "00198" "00452196" "00198" "00453627" "02554" "00453628" "02554" "00453629" "02554" "00453630" "02554" "00453631" "02554" "00453632" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01677, 01678, 02554, 05166 ## Count = 15 "{{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}}" "0000143288" "01678" "00181036" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143289" "01678" "00181037" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269823" "00198" "00374613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000274618" "01677" "00380765" "00000" "Familial" "" "DD; ID; hypotonia; failure to thrive; acidosis (Neurological)" "" "" "" "" "" "" "" "" "3-Methylcrotonyl-CoA carboxylase 2 deficiency" "" "" "0000296460" "01678" "00403761" "00006" "Familial, autosomal recessive" "" "see paper; ..., failure to thrive" "00y07m" "" "" "" "" "" "" "" "MCC2D" "" "" "0000322117" "05166" "00315504" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000340278" "01678" "00451602" "04221" "Familial, autosomal recessive" "" "" "" "0" "" "" "" "" "" "" "3-Methylcrotonyl-CoA carboxylase 2 deficiency" "3-Methylcrotonyl-CoA carboxylase 2 deficiency" "" "0000340798" "00198" "00452195" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC2D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340799" "00198" "00452196" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC2D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000342284" "02554" "00453627" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "3y" "" "" "" "" "" "" "" "MCC2D" "inborn error of metabolism" "" "0000342285" "02554" "00453628" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "6y" "" "" "" "" "" "" "" "MCC2D" "inborn error of metabolism" "" "0000342286" "02554" "00453629" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "6y" "" "" "" "" "" "" "" "MCC2D" "inborn error of metabolism" "" "0000342287" "02554" "00453630" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "5y" "" "" "" "" "" "" "" "MCC2D" "inborn error of metabolism" "" "0000342288" "02554" "00453631" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MCC2D" "inborn error of metabolism" "" "0000342289" "02554" "00453632" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MCC2D" "inborn error of metabolism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181984" "00181036" "1" "02568" "02568" "2018-09-21 12:05:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000181985" "00181037" "1" "02568" "02568" "2018-09-21 12:14:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000295063" "00293895" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295064" "00293896" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295065" "00293897" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375807" "00374613" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381979" "00380765" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000405000" "00403761" "1" "00006" "00006" "2022-02-21 17:51:59" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000432964" "00315504" "1" "01602" "01602" "2023-02-14 15:36:46" "" "" "SEQ-NG" "DNA" "" "" "0000453204" "00451602" "1" "04221" "04221" "2024-06-12 22:18:57" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453797" "00452195" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453798" "00452196" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455239" "00453627" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455240" "00453628" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455241" "00453629" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455242" "00453630" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455243" "00453631" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455244" "00453632" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000181984" "MCCC2" "0000181985" "MCCC2" "0000375807" "MCCC2" "0000405000" "MCCC2" "0000453204" "MCCC2" "0000453797" "MCCC2" "0000453798" "MCCC2" ## 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 = 59 "{{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}}" "0000248556" "0" "10" "5" "70945075" "70945075" "subst" "0.884504" "02325" "MCCC2_000005" "g.70945075A>G" "" "" "" "MCCC2(NM_022132.5):c.1368A>G (p.A456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71649248A>G" "" "benign" "" "0000282409" "0" "10" "5" "70932002" "70932002" "subst" "0" "02325" "MCCC2_000001" "g.70932002G>A" "" "" "" "MCCC2(NM_022132.5):c.999+929G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71636175G>A" "" "benign" "" "0000283649" "0" "90" "5" "70936829" "70936829" "subst" "0" "02329" "MCCC2_000002" "g.70936829G>C" "" "" "" "MCCC2(NM_022132.5):c.1000-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71641002G>C" "" "pathogenic" "" "0000286160" "0" "90" "5" "70936845" "70936845" "subst" "0.000796295" "02326" "MCCC2_000003" "g.70936845G>A" "" "" "" "MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71641018G>A" "" "pathogenic" "" "0000346734" "0" "90" "5" "70945016" "70945016" "subst" "2.03042E-5" "02327" "MCCC2_000004" "g.70945016A>G" "" "" "" "MCCC2(NM_022132.4):c.1309A>G (p.I437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71649189A>G" "" "pathogenic" "" "0000405778" "11" "90" "5" "70883384" "70883384" "subst" "0" "02568" "MCCC2_000006" "g.70883384A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71587557A>G" "" "pathogenic" "" "0000405779" "21" "50" "5" "70945029" "70945029" "subst" "0.000958376" "02568" "MCCC2_000008" "g.70945029T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71649202T>C" "" "VUS" "" "0000405780" "11" "90" "5" "70936845" "70936845" "subst" "0.000796295" "02568" "MCCC2_000003" "g.70936845G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71641018G>A" "" "pathogenic" "" "0000405781" "21" "90" "5" "70942042" "70942042" "del" "0" "02568" "MCCC2_000007" "g.70942042del" "" "" "" "1154delC" "" "Germline" "" "" "0" "" "" "g.71646215del" "" "pathogenic" "" "0000525971" "0" "70" "5" "70888790" "70888790" "subst" "0" "02327" "MCCC2_000009" "g.70888790T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71592963T>C" "" "likely pathogenic" "" "0000525972" "0" "10" "5" "70930966" "70930966" "subst" "0.383149" "02327" "MCCC2_000010" "g.70930966A>G" "" "" "" "MCCC2(NM_022132.5):c.904-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71635139A>G" "" "benign" "" "0000525973" "0" "10" "5" "70930966" "70930966" "subst" "0.383149" "02325" "MCCC2_000010" "g.70930966A>G" "" "" "" "MCCC2(NM_022132.5):c.904-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71635139A>G" "" "benign" "" "0000525974" "0" "50" "5" "70944978" "70944978" "subst" "0" "02327" "MCCC2_000011" "g.70944978A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71649151A>C" "" "VUS" "" "0000525975" "0" "10" "5" "70945075" "70945075" "subst" "0.884504" "02327" "MCCC2_000005" "g.70945075A>G" "" "" "" "MCCC2(NM_022132.5):c.1368A>G (p.A456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71649248A>G" "" "benign" "" "0000525976" "0" "70" "5" "70952575" "70952575" "subst" "8.12308E-6" "02327" "MCCC2_000012" "g.70952575G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71656748G>A" "" "likely pathogenic" "" "0000651752" "1" "50" "5" "70883368" "70883368" "subst" "0" "03575" "MCCC2_000013" "g.70883368C>T" "2/2753 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398124371}" "Germline" "" "rs398124371" "0" "" "" "g.71587541C>T" "" "VUS" "" "0000651753" "1" "90" "5" "70931068" "70931068" "subst" "5.27962E-5" "03575" "MCCC2_000014" "g.70931068C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs727504010}" "Germline" "" "rs727504010" "0" "" "" "g.71635241C>T" "" "pathogenic" "" "0000651754" "1" "90" "5" "70939654" "70939654" "subst" "4.06157E-6" "03575" "MCCC2_000015" "g.70939654C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs763293192}" "Germline" "" "rs763293192" "0" "" "" "g.71643827C>T" "" "pathogenic" "" "0000655406" "0" "30" "5" "70936844" "70936844" "subst" "8.93793E-5" "01943" "MCCC2_000017" "g.70936844C>T" "" "" "" "MCCC2(NM_022132.4):c.1014C>T (p.I338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71641017C>T" "" "likely benign" "" "0000677538" "0" "50" "5" "70944989" "70944989" "subst" "6.49751E-5" "02325" "MCCC2_000018" "g.70944989G>A" "" "" "" "MCCC2(NM_022132.5):c.1282G>A (p.A428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677539" "0" "70" "5" "70948574" "70948574" "subst" "0" "02327" "MCCC2_000019" "g.70948574A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689541" "0" "90" "5" "70922577" "70922577" "dup" "0" "01943" "MCCC2_000020" "g.70922577dup" "" "" "" "MCCC2(NM_022132.4):c.735dupC (p.V247Gfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689542" "0" "90" "5" "70936845" "70936845" "subst" "0.000796295" "01943" "MCCC2_000003" "g.70936845G>A" "" "" "" "MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720483" "0" "50" "5" "70900270" "70900270" "subst" "0.00215256" "01943" "MCCC2_000021" "g.70900270T>A" "" "" "" "MCCC2(NM_022132.4):c.599T>A (p.I200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720484" "0" "70" "5" "70945016" "70945016" "subst" "2.03042E-5" "01943" "MCCC2_000004" "g.70945016A>G" "" "" "" "MCCC2(NM_022132.4):c.1309A>G (p.I437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787158" "1" "50" "5" "70892195" "70892195" "subst" "2.84726E-5" "00006" "MCCC2_000022" "g.70892195C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs758998339" "0" "" "" "g.71596368C>T" "" "VUS" "" "0000787548" "2" "50" "5" "70930811" "70930811" "subst" "0" "00000" "MCCC2_000023" "g.70930811A>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.71634984A>G" "" "VUS" "" "0000795613" "3" "70" "5" "70888781" "70888781" "subst" "0" "00000" "MCCC2_000024" "g.70888781T>C" "" "{PMID:Nair 2018:30293248}" "" "NM_022132.4:c.158T>C; p.Val53Ala" "" "Unknown" "?" "" "0" "" "" "g.71592954T>C" "" "likely pathogenic" "" "0000840982" "3" "90" "5" "70936884" "70936884" "subst" "8.1285E-6" "00006" "MCCC2_000025" "g.70936884G>A" "" "{PMID:Stucki 2009:19706617}" "" "" "relative expression transcripts 3:2" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918587" "0" "70" "5" "70952647" "70952647" "subst" "0" "01602" "MCCC2_000026" "g.70952647C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000924372" "0" "50" "5" "70895553" "70895553" "subst" "0" "02327" "MCCC2_000027" "g.70895553G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963670" "0" "90" "5" "70895499" "70895499" "subst" "2.84292E-5" "02325" "MCCC2_000028" "g.70895499G>C" "" "" "" "MCCC2(NM_022132.5):c.295G>C (p.E99Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963672" "0" "90" "5" "70936845" "70936845" "subst" "0.000796295" "02325" "MCCC2_000003" "g.70936845G>A" "" "" "" "MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976843" "0" "50" "5" "70942069" "70942069" "subst" "0" "02327" "MCCC2_000029" "g.70942069G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976844" "0" "50" "5" "70948541" "70948541" "subst" "0" "02327" "MCCC2_000030" "g.70948541A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987727" "3" "70" "5" "70945063" "70945063" "subst" "0" "04221" "MCCC2_000031" "g.70945063G>A" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). Variant not previously reported in Databases as dbSNP, GnomAD, ClinVar, nor in literature." "Germline" "yes" "" "0" "" "" "g.71649236G>A" "" "likely pathogenic (recessive)" "ACMG" "0000988559" "0" "50" "5" "70900248" "70900248" "subst" "2.84289E-5" "00006" "MCCC2_000032" "g.70900248C>T" "2/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.71604421C>T" "" "VUS" "" "0000988560" "0" "70" "5" "70900263" "70900263" "subst" "8.12255E-6" "00006" "MCCC2_000033" "g.70900263C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.71604436C>T" "" "likely pathogenic" "" "0000995145" "0" "70" "5" "70928012" "70928012" "subst" "0" "02327" "MCCC2_000034" "g.70928012G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001007272" "1" "70" "5" "70895499" "70895499" "subst" "2.84292E-5" "00006" "MCCC2_000028" "g.70895499G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71599672G>C" "" "likely pathogenic" "" "0001007273" "1" "70" "5" "70883384" "70883384" "subst" "0" "00006" "MCCC2_000006" "g.70883384A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71587557A>G" "" "likely pathogenic" "" "0001007274" "1" "70" "5" "70936845" "70936845" "subst" "0.000796295" "00006" "MCCC2_000003" "g.70936845G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71641018G>A" "" "likely pathogenic" "" "0001007275" "1" "70" "5" "70936845" "70936845" "subst" "0.000796295" "00006" "MCCC2_000003" "g.70936845G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71641018G>A" "" "likely pathogenic" "" "0001007276" "3" "70" "5" "70945007" "70945007" "subst" "1.21822E-5" "00006" "MCCC2_000036" "g.70945007G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71649180G>C" "" "likely pathogenic" "" "0001007277" "3" "70" "5" "70945945" "70945945" "subst" "9.75039E-5" "00006" "MCCC2_000037" "g.70945945G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71650118G>A" "" "likely pathogenic" "" "0001007389" "2" "70" "5" "70948574" "70948574" "subst" "0" "00006" "MCCC2_000019" "g.70948574A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71652747A>G" "" "likely pathogenic" "" "0001007390" "2" "70" "5" "70945029" "70945029" "subst" "0.000958376" "00006" "MCCC2_000008" "g.70945029T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71649202T>C" "" "likely pathogenic" "" "0001007391" "2" "70" "5" "70922483" "70922483" "subst" "2.43704E-5" "00006" "MCCC2_000035" "g.70922483G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.71626656G>C" "" "likely pathogenic" "" "0001007392" "2" "90" "5" "70942042" "70942042" "del" "0" "00006" "MCCC2_000007" "g.70942042del" "" "{PMID:Navarrete 2019:30626930}" "" "1154delC" "" "Germline" "" "" "0" "" "" "g.71646215del" "" "pathogenic" "" "0001025122" "0" "70" "5" "70900248" "70900248" "subst" "2.84289E-5" "02327" "MCCC2_000032" "g.70900248C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025123" "0" "50" "5" "70930811" "70930811" "subst" "0" "02327" "MCCC2_000038" "g.70930811A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025124" "0" "90" "5" "70936845" "70936845" "subst" "0.000796295" "02327" "MCCC2_000003" "g.70936845G>A" "" "" "" "MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035296" "0" "50" "5" "70895532" "70895532" "subst" "7.71561E-5" "01804" "MCCC2_000039" "g.70895532G>A" "" "" "" "MCCC2(NM_022132.5):c.328G>A (p.(Asp110Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035297" "0" "70" "5" "70900202" "70900202" "subst" "0" "01804" "MCCC2_000040" "g.70900202C>A" "" "" "" "MCCC2(NM_022132.5):c.531C>A (p.(Tyr177*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035298" "0" "50" "5" "70922543" "70922543" "subst" "0.000150246" "01804" "MCCC2_000041" "g.70922543G>A" "" "" "" "MCCC2(NM_022132.5):c.701G>A (p.(Arg234His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035299" "0" "90" "5" "70936845" "70936845" "subst" "0.000796295" "01804" "MCCC2_000003" "g.70936845G>A" "" "" "" "MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035300" "0" "50" "5" "70944962" "70944962" "subst" "4.06114E-6" "01804" "MCCC2_000042" "g.70944962G>A" "" "" "" "MCCC2(NM_022132.5):c.1255G>A (p.(Ala419Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051989" "0" "50" "5" "70898367" "70898367" "subst" "8.93365E-5" "01804" "MCCC2_000043" "g.70898367G>A" "" "" "" "MCCC2(NM_022132.5):c.418G>A (p.(Val140Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051990" "0" "90" "5" "70900182" "70900182" "subst" "0" "01804" "MCCC2_000044" "g.70900182G>A" "" "" "" "MCCC2(NM_022132.5):c.512-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 MCCC2 ## Count = 59 "{{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}}" "0000248556" "00011893" "10" "1368" "0" "1368" "0" "c.1368A>G" "r.(?)" "p.(Ala456=)" "" "0000282409" "00011893" "10" "999" "929" "999" "929" "c.999+929G>A" "r.(=)" "p.(=)" "" "0000283649" "00011893" "90" "1000" "-1" "1000" "-1" "c.1000-1G>C" "r.spl?" "p.?" "" "0000286160" "00011893" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0000346734" "00011893" "90" "1309" "0" "1309" "0" "c.1309A>G" "r.(?)" "p.(Ile437Val)" "" "0000405778" "00011893" "90" "129" "3" "129" "3" "c.129+3A>G" "r.spl?" "p.?" "" "0000405779" "00011893" "50" "1322" "0" "1322" "0" "c.1322T>C" "r.(?)" "p.(Ile441Thr)" "" "0000405780" "00011893" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0000405781" "00011893" "90" "1154" "0" "1154" "0" "c.1154del" "r.(?)" "p.(Thr385Ilefs*53)" "" "0000525971" "00011893" "70" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Leu56Pro)" "" "0000525972" "00011893" "10" "904" "-12" "904" "-12" "c.904-12A>G" "r.(=)" "p.(=)" "" "0000525973" "00011893" "10" "904" "-12" "904" "-12" "c.904-12A>G" "r.(=)" "p.(=)" "" "0000525974" "00011893" "50" "1271" "0" "1271" "0" "c.1271A>C" "r.(?)" "p.(Lys424Thr)" "" "0000525975" "00011893" "10" "1368" "0" "1368" "0" "c.1368A>G" "r.(?)" "p.(Ala456=)" "" "0000525976" "00011893" "70" "1580" "0" "1580" "0" "c.1580G>A" "r.(?)" "p.(Trp527Ter)" "" "0000651752" "00011893" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ser39Phe)" "" "0000651753" "00011893" "90" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332*)" "" "0000651754" "00011893" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361*)" "" "0000655406" "00011893" "30" "1014" "0" "1014" "0" "c.1014C>T" "r.(?)" "p.(Ile338=)" "" "0000677538" "00011893" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0000677539" "00011893" "70" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Ser523Gly)" "" "0000689541" "00011893" "90" "735" "0" "735" "0" "c.735dup" "r.(?)" "p.(Val247GlyfsTer2)" "" "0000689542" "00011893" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0000720483" "00011893" "50" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Ile200Asn)" "" "0000720484" "00011893" "70" "1309" "0" "1309" "0" "c.1309A>G" "r.(?)" "p.(Ile437Val)" "" "0000787158" "00011893" "50" "281" "4" "281" "4" "c.281+4C>T" "r.spl" "p.?" "3i" "0000787548" "00011893" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(His282Arg)" "9" "0000795613" "00011893" "70" "158" "0" "158" "0" "c.158T>C" "r.(?)" "p.(Val53Ala)" "" "0000840982" "00011893" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.[1054g>a,1000_1072delins999+858_999+921]" "p.[Gly352Arg,Val334_Thrr357delins21]" "11" "0000918587" "00011893" "70" "1652" "0" "1652" "0" "c.1652C>T" "r.(?)" "p.(Ala551Val)" "" "0000924372" "00011893" "50" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Gly117Arg)" "" "0000963670" "00011893" "90" "295" "0" "295" "0" "c.295G>C" "r.(?)" "p.(Glu99Gln)" "" "0000963672" "00011893" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0000976843" "00011893" "50" "1181" "0" "1181" "0" "c.1181G>C" "r.(?)" "p.(Arg394Thr)" "" "0000976844" "00011893" "50" "1534" "0" "1534" "0" "c.1534A>G" "r.(?)" "p.(Lys512Glu)" "" "0000987727" "00011893" "70" "1356" "0" "1356" "0" "c.1356G>A" "r.(?)" "p.(Met452Ile)" "14" "0000988559" "00011893" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0000988560" "00011893" "70" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Gln198Ter)" "" "0000995145" "00011893" "70" "803" "0" "803" "0" "c.803G>C" "r.(?)" "p.(Arg268Thr)" "" "0001007272" "00011893" "70" "295" "0" "295" "0" "c.295G>C" "r.(?)" "p.(Glu99Gln)" "" "0001007273" "00011893" "70" "129" "3" "129" "3" "c.129+3A>G" "r.spl" "p.?" "" "0001007274" "00011893" "70" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0001007275" "00011893" "70" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0001007276" "00011893" "70" "1300" "0" "1300" "0" "c.1300G>C" "r.(?)" "p.(Val434Leu)" "" "0001007277" "00011893" "70" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Gly475Arg)" "" "0001007389" "00011893" "70" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Ser523Gly)" "" "0001007390" "00011893" "70" "1322" "0" "1322" "0" "c.1322T>C" "r.(?)" "p.(Ile441Thr)" "" "0001007391" "00011893" "70" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Gly214Ala)" "" "0001007392" "00011893" "90" "1154" "0" "1154" "0" "c.1154del" "r.(?)" "p.(Thr385IlefsTer53)" "13" "0001025122" "00011893" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Cys)" "" "0001025123" "00011893" "50" "845" "0" "845" "0" "c.845A>C" "r.(?)" "p.(His282Pro)" "" "0001025124" "00011893" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0001035296" "00011893" "50" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Asp110Asn)" "" "0001035297" "00011893" "70" "531" "0" "531" "0" "c.531C>A" "r.(?)" "p.(Tyr177*)" "" "0001035298" "00011893" "50" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234His)" "" "0001035299" "00011893" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Val339Met)" "" "0001035300" "00011893" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Ala419Thr)" "" "0001051989" "00011893" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Val140Ile)" "" "0001051990" "00011893" "90" "512" "-1" "512" "-1" "c.512-1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000181984" "0000405778" "0000181984" "0000405779" "0000181985" "0000405780" "0000181985" "0000405781" "0000295063" "0000651752" "0000295064" "0000651753" "0000295065" "0000651754" "0000375807" "0000787158" "0000375807" "0000787548" "0000381979" "0000795613" "0000405000" "0000840982" "0000432964" "0000918587" "0000453204" "0000987727" "0000453797" "0000988559" "0000453798" "0000988560" "0000455239" "0001007272" "0000455239" "0001007389" "0000455240" "0001007273" "0000455240" "0001007390" "0000455241" "0001007274" "0000455241" "0001007391" "0000455242" "0001007275" "0000455242" "0001007392" "0000455243" "0001007276" "0000455244" "0001007277"