### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PC) # 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}}" "PC" "pyruvate carboxylase" "11" "q13.4-q13.5" "unknown" "NG_008319.1" "UD_132085262597" "" "https://www.LOVD.nl/PC" "" "1" "8636" "5091" "608786" "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/PC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-23 14:42:57" "00000" "2025-07-08 13:22:38" ## 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}}" "00015722" "PC" "transcript variant 3" "002" "NM_001040716.1" "" "NP_001035806.1" "" "" "" "-282" "3910" "3537" "66725847" "66615997" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "02044" "-" "Pyruvate carboxylase deficiency" "AR" "266150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03937" "IHPRF1" "hypotonia, infantile, with psychomotor retardation and characteristic facies, type 1 (IHPRF-1)" "AR" "615419" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "04589" "CLIFAHDD" "contractures, limbs and face, congenital, hypotonia, and developmental delay (CLIFAHDD)" "AD" "616266" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PC" "00139" "PC" "02044" ## 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}}" "00080981" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00213141" "" "" "" "1" "" "03158" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat1" "00213143" "" "" "" "2" "" "03158" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Pat5" "00218072" "" "" "00213143" "1" "" "03158" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "younger brother" "M" "no" "" "" "0" "" "" "" "Pat6" "00274163" "" "" "" "2" "" "00006" "{PMID:Pronicka 2016:27290639}" "2-generation family, 2 affected brothers" "F" "" "Poland" "" "0" "" "" "" "Pat29" "00274196" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat71" "00290497" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290498" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290499" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290500" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290501" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296604" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "Pat37" "00374339" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-760" "00380216" "" "" "" "1" "" "00006" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Canada" "" "0" "" "" "Canada-Aboriginal" "Pat2" "00380217" "" "" "" "1" "" "00006" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat3" "00380218" "" "" "" "1" "" "00006" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "2-generation family, 1 affected, unaffected parents" "M" "no" "" "" "0" "" "" "" "Pat4" "00391857" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "228P" "00454718" "" "" "" "2" "" "00095" "{PMID:Legati 2016:26968897}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "NGSP67" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00080981" "02044" "00213141" "04225" "00213143" "02044" "00218072" "02044" "00274163" "00198" "00274196" "00198" "00290497" "00198" "00290498" "00198" "00290499" "00198" "00290500" "00198" "00290501" "00198" "00296604" "00198" "00374339" "00198" "00380216" "04225" "00380217" "04225" "00380218" "04225" "00391857" "03937" "00391857" "04589" "00454718" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02044, 03937, 04225, 04589, 05534 ## Count = 12 "{{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}}" "0000060550" "02044" "00080981" "01758" "Familial, autosomal recessive" "" "Pyruvate carboxylase deficiency (OMIM:266150)" "" "" "" "" "" "" "" "" "" "" "" "0000161616" "04225" "00213141" "03158" "Familial, autosomal recessive" "02y" "see paper; ..." "" "" "" "" "" "" "" "" "pyruvate carboxylase deficency" "pyruvate carboxylase deficency" "" "0000161618" "02044" "00213143" "03158" "Familial, autosomal recessive" "03y" "see paper; ..." "" "" "" "" "" "" "" "" "pyruvate carboxylase deficency" "pyruvate carboxylase deficency" "" "0000166525" "02044" "00218072" "03158" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "pyruvate carboxylase deficiency" "pyruvate carboxylase deficiency" "" "0000209108" "00198" "00274163" "00006" "Familial, autosomal recessive" "" "neonatal onset; mitochondrial disease criteria score 5; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000209141" "00198" "00274196" "00006" "Familial, autosomal recessive" "" "deceased; neonatal onset; mitochondrial disease criteria score 5; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000224010" "00198" "00296604" "00006" "Unknown" "5m" "muscle affected; central nervous system affected; heart not affected; liver not affected; seizures, congenital lactic acidosis" "<1m" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000269549" "00198" "00374339" "00006" "Familial, autosomal dominant" "" "Global developmental delay, seizures, shock sepsis, metabolic aciduria, hypoglycemia, anemia, thrombocytopenia, nephrocalcinosis and hypervitaminosis" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000274071" "04225" "00380216" "00006" "Familial, autosomal recessive" "02y" "see paper; ..., lactic acidosis, generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000274072" "04225" "00380217" "00006" "Unknown" "00y22m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000274073" "04225" "00380218" "00006" "Unknown" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000343346" "05534" "00454718" "00095" "Familial, autosomal recessive" "" "pyramidal signs, intellectual disability, leukoencephalopathy" "<0y" "" "" "" "" "" "" "" "" "multiple RC complex defect" "" ## 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}}" "0000081093" "00080981" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214212" "00213141" "1" "03158" "03158" "2019-01-11 14:19:06" "" "" "PCR" "DNA" "blood" "" "0000214213" "00213143" "1" "03158" "03158" "2019-01-11 15:45:24" "00006" "2019-01-24 09:49:38" "PCR;SEQ" "DNA" "" "" "0000219142" "00218072" "1" "03158" "03158" "2019-01-22 00:02:15" "00006" "2019-01-24 09:37:42" "PCR;SEQ" "DNA" "" "" "0000275318" "00274163" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275351" "00274196" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291665" "00290497" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291666" "00290498" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291667" "00290499" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291668" "00290500" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291669" "00290501" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297714" "00296604" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375533" "00374339" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381418" "00380216" "1" "00006" "00006" "2021-08-11 11:26:38" "" "" "SEQ" "DNA" "" "" "0000381419" "00380217" "1" "00006" "00006" "2021-08-11 11:30:16" "" "" "SEQ" "DNA" "" "" "0000381420" "00380218" "1" "00006" "00006" "2021-08-11 11:34:14" "" "" "SEQ" "DNA" "" "" "0000393099" "00391857" "1" "02494" "02494" "2021-11-19 11:55:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000456331" "00454718" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000081093" "PC" "0000214212" "PC" "0000214213" "PC" "0000219142" "PC" "0000275318" "PC" "0000275351" "PC" "0000375533" "GRIN2A" "0000381418" "PC" "0000381419" "PC" "0000381420" "PC" ## 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 = 61 "{{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}}" "0000130179" "3" "70" "11" "66617884" "66617884" "subst" "0" "01758" "PC_000001" "g.66617884C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.66850413C>T" "" "likely pathogenic" "ACMG" "0000305063" "0" "30" "11" "66619404" "66619404" "subst" "2.03875E-5" "01943" "PC_000006" "g.66619404G>A" "" "" "" "PC(NM_001040716.1):c.1839C>T (p.D613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66851933G>A" "" "likely benign" "" "0000305064" "0" "50" "11" "66618333" "66618333" "subst" "4.52891E-5" "01943" "PC_000004" "g.66618333C>T" "" "" "" "PC(NM_001040716.1):c.2285G>A (p.R762H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66850862C>T" "" "VUS" "" "0000305065" "0" "50" "11" "66617593" "66617595" "del" "0" "01943" "PC_000002" "g.66617593_66617595del" "" "" "" "PC(NM_001040716.1):c.2719-5_2719-3delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66850122_66850124del" "" "VUS" "" "0000305066" "0" "30" "11" "66637929" "66637929" "subst" "8.57948E-5" "01943" "PC_000008" "g.66637929G>A" "" "" "" "PC(NM_001040716.1):c.752-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66870458G>A" "" "likely benign" "" "0000305067" "0" "50" "11" "66637796" "66637796" "subst" "1.22833E-5" "01943" "PC_000007" "g.66637796C>T" "" "" "" "PC(NM_001040716.1):c.880G>A (p.D294N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66870325C>T" "" "VUS" "" "0000322338" "0" "50" "11" "66611335" "66611335" "subst" "0" "01804" "C11orf80_000005" "g.66611335G>A" "" "" "" "RCE1(NM_001032279.1):c.-21+3G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66843864G>A" "" "VUS" "" "0000322341" "0" "50" "11" "66617823" "66617823" "subst" "0" "01804" "PC_000003" "g.66617823A>T" "" "" "" "PC(NM_000920.3):c.2586T>A (p.(Tyr862Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66850352A>T" "" "VUS" "" "0000322342" "0" "50" "11" "66619303" "66619303" "subst" "6.90563E-5" "01804" "PC_000005" "g.66619303T>C" "" "" "" "PC(NM_000920.3):c.1940A>G (p.(Asn647Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66851832T>C" "" "VUS" "" "0000322343" "0" "50" "11" "66638540" "66638540" "subst" "0.00325187" "01804" "PC_000009" "g.66638540C>A" "" "" "" "PC(NM_000920.3):c.616G>T (p.(Val206Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66871069C>A" "" "VUS" "" "0000322344" "0" "50" "11" "66638573" "66638573" "subst" "0" "01804" "PC_000010" "g.66638573C>T" "" "" "" "PC(NM_000920.3):c.583G>A (p.(Ala195Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66871102C>T" "" "VUS" "" "0000446154" "3" "90" "11" "66638823" "66638825" "dup" "0" "03158" "PC_000013" "g.66638823_66638825dup" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "449_451dupGGA" "" "Germline" "" "" "0" "" "" "g.66871352_66871354dup" "" "pathogenic (recessive)" "" "0000446155" "21" "90" "11" "66616747" "66616747" "subst" "0" "03158" "PC_000012" "g.66616747T>C" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "g.66850721T>C" "" "Germline" "" "" "0" "" "" "g.66849276T>C" "" "pathogenic (recessive)" "" "0000453984" "11" "70" "11" "66638242" "66638242" "subst" "0" "03158" "PC_000014" "g.66638242T>C" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "g.66872020T>C" "" "Germline" "" "" "0" "" "" "g.66870771T>C" "" "likely pathogenic (recessive)" "" "0000454284" "21" "90" "11" "66616747" "66616747" "subst" "0" "03158" "PC_000012" "g.66616747T>C" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "g.66850721T>C" "" "Germline" "" "" "0" "" "" "g.66849276T>C" "" "pathogenic (recessive)" "" "0000454286" "11" "90" "11" "66638242" "66638242" "subst" "0" "03158" "PC_000014" "g.66638242T>C" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "g.66872020T>C" "" "Germline" "" "" "0" "" "" "g.66870771T>C" "" "likely pathogenic (recessive)" "" "0000545334" "0" "50" "11" "66616566" "66616566" "subst" "0.000302016" "01943" "C11orf80_000014" "g.66616566G>A" "" "" "" "PC(NM_001040716.1):c.3341C>T (p.A1114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66849095G>A" "" "VUS" "" "0000545337" "0" "10" "11" "66617727" "66617727" "subst" "0.00132416" "01943" "C11orf80_000016" "g.66617727A>G" "" "" "" "PC(NM_001040716.1):c.2682T>C (p.Y894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66850256A>G" "" "benign" "" "0000545338" "0" "30" "11" "66618293" "66618293" "subst" "0.000295142" "01943" "C11orf80_000017" "g.66618293C>T" "" "" "" "PC(NM_001040716.1):c.2325G>A (p.T775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66850822C>T" "" "likely benign" "" "0000545339" "0" "10" "11" "66618369" "66618369" "subst" "0.00152104" "01943" "C11orf80_000018" "g.66618369G>A" "" "" "" "PC(NM_001040716.1):c.2249C>T (p.T750M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66850898G>A" "" "benign" "" "0000545342" "0" "30" "11" "66620127" "66620127" "subst" "0.000714" "01943" "PC_000015" "g.66620127C>T" "" "" "" "PC(NM_001040716.1):c.1608G>A (p.P536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66852656C>T" "" "likely benign" "" "0000545362" "0" "50" "11" "66636360" "66636360" "subst" "0" "01804" "PC_000016" "g.66636360A>T" "" "" "" "PC(NM_000920.3):c.979T>A (p.(Ser327Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66868889A>T" "" "VUS" "" "0000545363" "0" "50" "11" "66639295" "66639295" "subst" "0" "01943" "PC_000017" "g.66639295G>A" "" "" "" "PC(NM_001040716.1):c.184C>T (p.R62C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66871824G>A" "" "VUS" "" "0000545364" "0" "10" "11" "66639546" "66639546" "subst" "0.000842726" "01943" "PC_000018" "g.66639546C>T" "" "" "" "PC(NM_001040716.1):c.85G>A (p.V29I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66872075C>T" "" "benign" "" "0000629282" "11" "90" "11" "66637868" "66637868" "subst" "0" "00006" "PC_000021" "g.66637868G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "high genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.66870397G>A" "" "pathogenic" "" "0000629315" "1" "90" "11" "66620736" "66620736" "subst" "0" "00006" "PC_000020" "g.66620736C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.66853265C>T" "" "pathogenic" "" "0000629342" "21" "90" "11" "66618239" "66618241" "del" "0" "00006" "PC_000019" "g.66618239_66618241del" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "2381_2383delTGG" "" "Germline" "" "" "0" "" "" "g.66850768_66850770del" "" "pathogenic" "" "0000629353" "2" "90" "11" "66638572" "66638572" "subst" "0" "00006" "PC_000022" "g.66638572G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.66871101G>A" "" "pathogenic" "" "0000648354" "1" "50" "11" "66616566" "66616566" "subst" "0.000302016" "03575" "C11orf80_000014" "g.66616566G>A" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148492494}" "Germline" "" "rs148492494" "0" "" "" "g.66849095G>A" "" "VUS" "" "0000648355" "1" "90" "11" "66619415" "66619415" "subst" "4.08437E-6" "03575" "PC_000023" "g.66619415C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28940589}" "Germline" "" "rs28940589" "0" "" "" "g.66851944C>T" "" "pathogenic" "" "0000648356" "1" "90" "11" "66637879" "66637879" "subst" "0" "03575" "PC_000024" "g.66637879G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796052030}" "Germline" "" "rs796052030" "0" "" "" "g.66870408G>T" "" "pathogenic" "" "0000648357" "1" "30" "11" "66638540" "66638540" "subst" "0.00325187" "03575" "PC_000009" "g.66638540C>A" "57/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous, no homozygous; {DB:CLININrs147945506}" "Germline" "" "rs147945506" "0" "" "" "g.66871069C>A" "" "likely benign" "" "0000648358" "1" "90" "11" "66639295" "66639295" "subst" "0" "03575" "PC_000017" "g.66639295G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs113994141}" "Germline" "" "rs113994141" "0" "" "" "g.66871824G>A" "" "pathogenic" "" "0000656882" "0" "50" "11" "66637890" "66637890" "subst" "6.91974E-5" "01943" "PC_000025" "g.66637890C>A" "" "" "" "PC(NM_001040716.1):c.786G>T (p.E262D), PC(NM_001040716.2):c.786G>T (p.(Glu262Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66870419C>A" "" "VUS" "" "0000660323" "1" "50" "11" "66619367" "66619367" "subst" "0" "00006" "PC_000027" "g.66619367G>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.66851896G>A" "" "VUS" "" "0000660357" "2" "50" "11" "66619351" "66619351" "subst" "4.06593E-6" "00006" "PC_000026" "g.66619351C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.66851880C>T" "" "VUS" "" "0000679302" "0" "30" "11" "66618137" "66618137" "subst" "4.16365E-6" "01943" "C11orf80_000020" "g.66618137C>T" "" "" "" "PC(NM_001040716.1):c.2473+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723645" "0" "30" "11" "66617187" "66617187" "subst" "6.09187E-5" "01943" "C11orf80_000023" "g.66617187G>A" "" "" "" "PC(NM_001040716.1):c.3042C>T (p.P1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723646" "0" "30" "11" "66617859" "66617859" "subst" "0.000958586" "01943" "C11orf80_000024" "g.66617859G>A" "" "" "" "PC(NM_001040716.1):c.2550C>T (p.C850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723647" "0" "50" "11" "66619403" "66619403" "subst" "2.44588E-5" "01943" "PC_000028" "g.66619403C>T" "" "" "" "PC(NM_001040716.1):c.1840G>A (p.V614I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723650" "0" "30" "11" "66639263" "66639263" "subst" "0.00137227" "01943" "PC_000029" "g.66639263C>T" "" "" "" "PC(NM_001040716.1):c.216G>A (p.T72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787486" "3" "50" "11" "66637892" "66637892" "subst" "0" "00000" "PC_000030" "g.66637892C>T" "" "0" "" "" "" "Germline" "" "rs1324553572" "0" "" "" "g.66870421C>T" "" "VUS" "" "0000794866" "3" "90" "11" "66619415" "66619415" "subst" "4.08437E-6" "00006" "PC_000023" "g.66619415C>T" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "" "enzymatic activity pyruvate carboxylase 0.023" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000794867" "11" "70" "11" "66619366" "66619366" "subst" "8.13431E-6" "00006" "PC_000031" "g.66619366C>T" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "" "no variant 2nd chromosome identified; enzymatic activity pyruvate carboxylase 0.06" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000794868" "21" "70" "11" "66637879" "66637879" "subst" "0" "00006" "PC_000024" "g.66637879G>T" "" "{PMID:Coci 2019:30870574}, {DOI:Coci 2019:10.1002/humu.23742}" "" "" "no variant 2nd chromosome identified; enzymatic activity pyruvate carboxylase 0.00" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000805326" "0" "50" "11" "66617523" "66617523" "subst" "0.000122038" "01943" "C11orf80_000025" "g.66617523C>T" "" "" "" "PC(NM_001040716.1):c.2783G>A (p.R928Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823708" "21" "70" "11" "66618168" "66618168" "subst" "4.11784E-6" "02494" "PC_000033" "g.66618168G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000823709" "11" "50" "11" "66617726" "66617726" "subst" "1.21854E-5" "02494" "PC_000032" "g.66617726C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000890113" "0" "50" "11" "66616775" "66616775" "subst" "8.13544E-6" "02327" "C11orf80_000015" "g.66616775C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979783" "0" "50" "11" "66616706" "66616706" "subst" "0" "01804" "C11orf80_000030" "g.66616706T>G" "" "" "" "PC(NM_001040716.2):c.3283A>C (p.(Met1095Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979784" "0" "50" "11" "66618678" "66618678" "subst" "0" "01804" "C11orf80_000031" "g.66618678T>C" "" "" "" "PC(NM_001040716.2):c.2056A>G (p.(Met686Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979785" "0" "50" "11" "66631284" "66631284" "subst" "4.07103E-6" "01804" "PC_000034" "g.66631284C>T" "" "" "" "PC(NM_001040716.2):c.1329G>A (p.(Met443Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979786" "0" "50" "11" "66637890" "66637890" "subst" "6.91974E-5" "01804" "PC_000025" "g.66637890C>A" "" "" "" "PC(NM_001040716.1):c.786G>T (p.E262D), PC(NM_001040716.2):c.786G>T (p.(Glu262Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999390" "0" "50" "11" "66625678" "66625678" "subst" "4.0847E-6" "01804" "PC_000035" "g.66625678A>G" "" "" "" "LRFN4(NM_024036.4):c.463A>G (p.(Asn155Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008577" "3" "90" "11" "66619304" "66619304" "subst" "0" "00095" "PC_000036" "g.66619304T>C" "" "{PMID:Legati 2016:26968897}" "" "N647D" "" "Germline" "" "" "0" "" "" "g.66851833T>C" "" "pathogenic" "" "0001038654" "0" "50" "11" "66618207" "66618207" "subst" "0" "01804" "C11orf80_000032" "g.66618207A>G" "" "" "" "PC(NM_001040716.2):c.2411T>C (p.(Met804Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038655" "0" "50" "11" "66618382" "66618382" "subst" "0" "01804" "C11orf80_000033" "g.66618382G>T" "" "" "" "PC(NM_001040716.2):c.2236C>A (p.(Leu746Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038657" "0" "50" "11" "66620846" "66620846" "subst" "2.43734E-5" "01804" "PC_000037" "g.66620846G>A" "" "" "" "PC(NM_001040716.2):c.1377C>T (p.(Ile459=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038659" "0" "50" "11" "66633652" "66633655" "del" "0" "01804" "PC_000038" "g.66633652_66633655del" "" "" "" "PC(NM_001040716.2):c.1185+5_1185+8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038660" "0" "50" "11" "66638282" "66638282" "subst" "0.00030095" "02329" "PC_000039" "g.66638282T>C" "" "" "" "PC(NM_000920.4):c.715A>G (p.I239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046328" "0" "70" "11" "66620096" "66620096" "subst" "0" "02327" "PC_000040" "g.66620096G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 PC ## Count = 61 "{{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}}" "0000130179" "00015722" "70" "2525" "0" "2525" "0" "c.2525G>A" "r.(?)" "p.(Arg842Gln)" "" "0000305063" "00015722" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Asp613=)" "" "0000305064" "00015722" "50" "2285" "0" "2285" "0" "c.2285G>A" "r.(?)" "p.(Arg762His)" "" "0000305065" "00015722" "50" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "r.spl?" "p.?" "" "0000305066" "00015722" "30" "752" "-5" "752" "-5" "c.752-5C>T" "r.spl?" "p.?" "" "0000305067" "00015722" "50" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Asp294Asn)" "" "0000322338" "00015722" "50" "8572" "0" "8572" "0" "c.*5035C>T" "r.(=)" "p.(=)" "" "0000322341" "00015722" "50" "2586" "0" "2586" "0" "c.2586T>A" "r.(?)" "p.(Tyr862Ter)" "" "0000322342" "00015722" "50" "1940" "0" "1940" "0" "c.1940A>G" "r.(?)" "p.(Asn647Ser)" "" "0000322343" "00015722" "50" "616" "0" "616" "0" "c.616G>T" "r.(?)" "p.(Val206Leu)" "" "0000322344" "00015722" "50" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Ala195Thr)" "" "0000446154" "00015722" "90" "449" "0" "451" "0" "c.449_451dup" "r.(?)" "p.(Gly150dup)" "" "0000446155" "00015722" "90" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(Asn1081Ser)" "" "0000453984" "00015722" "70" "751" "4" "751" "4" "c.751+4A>G" "r.spl?" "p.?" "8i" "0000454284" "00015722" "90" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(Asn1081Ser)" "" "0000454286" "00015722" "90" "751" "4" "751" "4" "c.751+4A>G" "r.spl?" "p.?" "8i" "0000545334" "00015722" "50" "3341" "0" "3341" "0" "c.3341C>T" "r.(?)" "p.(Ala1114Val)" "" "0000545337" "00015722" "10" "2682" "0" "2682" "0" "c.2682T>C" "r.(?)" "p.(Tyr894=)" "" "0000545338" "00015722" "30" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(Thr775=)" "" "0000545339" "00015722" "10" "2249" "0" "2249" "0" "c.2249C>T" "r.(?)" "p.(Thr750Met)" "" "0000545342" "00015722" "30" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(Pro536=)" "" "0000545362" "00015722" "50" "979" "0" "979" "0" "c.979T>A" "r.(?)" "p.(Ser327Thr)" "" "0000545363" "00015722" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000545364" "00015722" "10" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Val29Ile)" "" "0000629282" "00015722" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Trp)" "" "0000629315" "00015722" "90" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496Gln)" "" "0000629342" "00015722" "90" "2381" "0" "2383" "0" "c.2381_2383del" "r.(?)" "p.(Val794del)" "" "0000629353" "00015722" "90" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ala195Val)" "" "0000648354" "00015722" "50" "3341" "0" "3341" "0" "c.3341C>T" "r.(?)" "p.(Ala1114Val)" "" "0000648355" "00015722" "90" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Ala610Thr)" "" "0000648356" "00015722" "90" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Ser266Tyr)" "" "0000648357" "00015722" "30" "616" "0" "616" "0" "c.616G>T" "r.(?)" "p.(Val206Leu)" "" "0000648358" "00015722" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000656882" "00015722" "50" "786" "0" "786" "0" "c.786G>T" "r.(?)" "p.(Glu262Asp)" "" "0000660323" "00015722" "50" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626Trp)" "" "0000660357" "00015722" "50" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631Gln)" "" "0000679302" "00015722" "30" "2473" "8" "2473" "8" "c.2473+8G>A" "r.(=)" "p.(=)" "" "0000723645" "00015722" "30" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(Pro1014=)" "" "0000723646" "00015722" "30" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Cys850=)" "" "0000723647" "00015722" "50" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Val614Ile)" "" "0000723650" "00015722" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Thr72=)" "" "0000787486" "00015722" "50" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Glu262Lys)" "8" "0000794866" "00015722" "90" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Ala610Thr)" "" "0000794867" "00015722" "70" "1877" "0" "1877" "0" "c.1877G>A" "r.(?)" "p.(Arg626Gln)" "" "0000794868" "00015722" "70" "797" "0" "797" "0" "c.797C>A" "r.(?)" "p.(Ser266Tyr)" "" "0000805326" "00015722" "50" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Arg928Gln)" "" "0000823708" "00015722" "70" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Thr817Ile)" "" "0000823709" "00015722" "50" "2683" "0" "2683" "0" "c.2683G>A" "r.(?)" "p.(Val895Met)" "" "0000890113" "00015722" "50" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Gly1072Ser)" "" "0000979783" "00015722" "50" "3283" "0" "3283" "0" "c.3283A>C" "r.(?)" "p.(Met1095Leu)" "" "0000979784" "00015722" "50" "2056" "0" "2056" "0" "c.2056A>G" "r.(?)" "p.(Met686Val)" "" "0000979785" "00015722" "50" "1329" "0" "1329" "0" "c.1329G>A" "r.(?)" "p.(Met443Ile)" "" "0000979786" "00015722" "50" "786" "0" "786" "0" "c.786G>T" "r.(?)" "p.(Glu262Asp)" "" "0000999390" "00015722" "50" "1369" "-4824" "1369" "-4824" "c.1369-4824T>C" "r.(=)" "p.(=)" "" "0001008577" "00015722" "90" "1939" "0" "1939" "0" "c.1939A>G" "r.(?)" "p.(Asn647Asp)" "" "0001038654" "00015722" "50" "2411" "0" "2411" "0" "c.2411T>C" "r.(?)" "p.(Met804Thr)" "" "0001038655" "00015722" "50" "2236" "0" "2236" "0" "c.2236C>A" "r.(?)" "p.(Leu746Met)" "" "0001038657" "00015722" "50" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(=)" "" "0001038659" "00015722" "50" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "r.spl?" "p.?" "" "0001038660" "00015722" "50" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Ile239Val)" "" "0001046328" "00015722" "70" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Arg547*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000081093" "0000130179" "0000214212" "0000446154" "0000214213" "0000446155" "0000214213" "0000454286" "0000219142" "0000453984" "0000219142" "0000454284" "0000275318" "0000629282" "0000275318" "0000629342" "0000275351" "0000629315" "0000275351" "0000629353" "0000291665" "0000648354" "0000291666" "0000648355" "0000291667" "0000648356" "0000291668" "0000648357" "0000291669" "0000648358" "0000297714" "0000660323" "0000297714" "0000660357" "0000375533" "0000787486" "0000381418" "0000794866" "0000381419" "0000794867" "0000381420" "0000794868" "0000393099" "0000823708" "0000393099" "0000823709" "0000456331" "0001008577"