### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GFM1) # 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}}" "GFM1" "G elongation factor, mitochondrial 1" "3" "q25" "unknown" "NG_008441.1" "UD_132119133626" "" "http://www.LOVD.nl/GFM1" "" "1" "13780" "85476" "606639" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GFM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-09 12:43:33" "00006" "2026-02-18 10:03:40" ## 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}}" "00008462" "GFM1" "G elongation factor, mitochondrial 1" "001" "NM_024996.5" "" "NP_079272.4" "" "" "" "-107" "3361" "2256" "158362317" "158410361" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "02821" "COXPD1" "combined oxidative phosphorylation deficiency, type 1 (COXPD-1)" "AR" "609060" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "07230" "acidosis, lactic" "acidosis, lactic" "" "" "" "" "" "00006" "2026-02-18 09:51:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GFM1" "02821" ## 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}}" "00035925" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035926" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035927" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00064674" "" "" "" "2" "" "01598" "{PMID:Simon 2017:28216230}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Mexico" "" "0" "" "" "Hispanic" "28216230-Pat1/2" "00064675" "" "" "" "1" "" "00006" "{PMID:Smits 2011:21119709}, {DOI:Smits 2011:10.1038/ejhg.2010.208}" "" "F" "yes" "Netherlands" "02y" "0" "" "" "" "" "00073550" "" "" "" "1" "" "00006" "{PMID:Coenen 2004:15537906}" "2-generation family, 2 sibs, unaffected heterozygous carrier parents" "F;M" "yes" "Lebanon" "<00y05m" "0" "" "" "" "" "00073551" "" "" "" "1" "" "00006" "{PMID:Antonicka 2007:17160893}" "family, 1 affected, unaffected heterozygous carrier parents/sibs" "F" "no" "Italy" "01y04m" "0" "" "" "" "" "00073553" "" "" "" "2" "" "00006" "{PMID:Antonicka 2006:16632485}" "family, 2 affected sibs, unaffected heterozygous carrier parents" "F" "no" "United States" "<00y00m09d" "0" "" "" "" "" "00073554" "" "" "" "1" "" "00006" "{PMID:Balasubramaniam 2012:23430926}, {DOI:Balasubramaniam 2012:10.1007/8904_2011_107}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "no" "China" "00y08m" "0" "" "" "" "" "00100942" "" "" "" "1" "" "01598" "{PMID:Calvo 2012:22277967}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "M" "?" "" "" "0" "" "" "" "22277967-P18" "00100949" "" "" "" "1" "" "00006" "{PMID:Calvo 2012:22277967}, {DOI:Calvo 2012:10.1126/scitranslmed.3003310}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "no" "" "" "0" "" "" "" "22277967-P29" "00293262" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293263" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295487" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304934" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324656" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "34y" "" "" "" "Europe" "SUDS030" "00472465" "" "" "" "1" "" "00006" "{PMID:Bravo-Alonso 2019:31683770}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "Pat16" "00472466" "" "" "" "1" "" "00006" "{PMID:Bravo-Alonso 2019:31683770}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00035927" "00198" "00064674" "02821" "00064675" "00198" "00073550" "02821" "00073551" "02821" "00073553" "02821" "00073554" "02821" "00100942" "02821" "00100949" "02821" "00293262" "00198" "00293263" "00198" "00295487" "00198" "00304934" "00198" "00324656" "05166" "00472465" "07230" "00472466" "07230" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02821, 05166, 07230 ## 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}}" "0000050874" "00198" "00035927" "01164" "Unknown" "" "suspected defect respiratory chain complex IV, relapsing severe rhabdomyolysis" "" "" "" "" "" "" "" "" "" "" "" "0000050875" "00198" "00064675" "00006" "Familial, autosomal recessive" "" "see paper: OXPHOS deficiency in fibroblasts, not in muscle; hypotonia, microcephaly, small frontal cortex, thin corpus callosum, delayed myelination, encephalopathy, lactic acidosis; 2y-deceased of respiratory insufficiency secondary to pneumonia; ..." "00y00m02d" "" "feeding problems, reduced consciousness" "" "" "" "" "" "" "" "" "0000051371" "02821" "00064674" "01598" "Familial, autosomal recessive" "" "encephalopathy, hepatomegaly, developmental delay, microcephaly, lactic acidosis, abn. carbohydrate deficient transferrin" "" "" "" "" "" "" "" "" "" "" "" "0000053225" "02821" "00073550" "00006" "Familial, autosomal dominant" "" "sib1: neonatal liver failure, IUGR, microcephaly, stiffness, severe lactic acidosis, basal ganglia/corpus callosum abnormalities, died after 27d\r\nsib2: liver failure (7w), stiffness, elevated lactate, abnormal corpus callosum, died after 5m" "" "" "" "" "" "" "" "" "" "" "" "0000053226" "02821" "00073551" "00006" "Familial, autosomal recessive" "" "see paper; ..., dysmorphic features, short tibia, feeding difficulties, vomiting, lactic acidosis, elevated pyruvate, abnormal MRI putamen, globus pallidus mesencephalon, microcephalia, died at 16m of respiratory\r\ninsufficiency" "" "" "" "" "" "" "" "" "" "" "" "0000053228" "02821" "00073553" "00006" "Familial, autosomal recessive" "" "see paper; Sib1 dysmorphic, IUGR, microcephaly, neonatal liver failure, lactic acidosis, coagulopathy, died at 9d of respiratory failure\r\nSib2 died 45 min after birth" "" "" "" "" "" "" "" "" "" "" "" "0000053229" "02821" "00073554" "00006" "Familial, autosomal recessive" "" "see paper; liver failure, IUGR, encephalopathy, lactic academia,inc pyruvate, ketosis, hypoglycemia, vomiting; abnormal MRI putamen globus pallidi; nystagmus, cystic kidneys, mild coagulopathy, normal transferrin, died at 8m (respiratory failure)" "" "" "" "" "" "" "" "" "" "" "" "0000079159" "02821" "00100942" "01598" "Familial, autosomal recessive" "" "hypsarrhythmia (HP:0002521), failure to thrive (HP:0001508), dystonia (HP:0001332), squint (HP:0000486), decreased complex IV activity (HP:0008347) in muscle and fibroblast, normal for complex I and III" "<00y00m07d" "" "" "" "" "" "" "" "" "" "" "0000079162" "02821" "00100949" "00006" "Familial, autosomal recessive" "" "developmental delay (HP:0001263), seizures (HP:0001250), hypotonia (HP:0001290), episodic metabolic acidosis (HP:0004911)" "<01y" "" "" "" "" "" "" "" "" "" "" "0000322115" "05166" "00324656" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000357275" "07230" "00472465" "00006" "Familial, autosomal recessive" "15m" "see paper; ..." "" "" "" "" "" "" "" "" "COXPD1" "congenital lactic acidosis" "" "0000357276" "07230" "00472466" "00006" "Familial, autosomal recessive" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "COXPD1" "congenital lactic acidosis" "" ## 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}}" "0000035995" "00035925" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035996" "00035926" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035997" "00035927" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000064814" "00064674" "1" "01598" "01598" "2016-05-08 08:29:57" "00006" "2016-05-09 14:51:33" "DSDI;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000064815" "00064675" "1" "00006" "00006" "2016-05-09 14:35:05" "" "" "SEQ" "DNA" "" "" "0000073710" "00073550" "1" "00006" "00006" "2016-06-11 11:16:24" "00006" "2016-06-11 11:21:20" "RT-PCRq;SEQ" "DNA;RNA" "fibroblast" "" "0000073711" "00073551" "1" "00006" "00006" "2016-06-11 11:37:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000073713" "00073553" "1" "00006" "00006" "2016-06-11 12:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000073714" "00073554" "1" "00006" "00006" "2016-06-11 17:34:12" "" "" "SEQ" "DNA" "liver" "" "0000101365" "00100942" "1" "01598" "01598" "2017-03-15 02:37:16" "00006" "2017-03-17 10:34:31" "RT-PCRq;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000101372" "00100949" "1" "00006" "00006" "2017-03-17 11:01:33" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000294430" "00293262" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294431" "00293263" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296655" "00295487" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306063" "00304934" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000432960" "00324656" "1" "01602" "01602" "2023-02-14 15:27:38" "" "" "SEQ-NG" "DNA" "" "" "0000474133" "00472465" "1" "00006" "00006" "2026-02-18 09:53:54" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000474134" "00472466" "1" "00006" "00006" "2026-02-18 09:53:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000035995" "GFM1" "0000035996" "GFM1" "0000035997" "GFM1" "0000064814" "GFM1" "0000064815" "GFM1" "0000073710" "GFM1" "0000073711" "GFM1" "0000073713" "GFM1" "0000073714" "GFM1" "0000101365" "GFM1" "0000101372" "GFM1" ## 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 = 52 "{{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}}" "0000063120" "1" "30" "3" "158372509" "158372509" "del" "0" "01164" "GFM1_000002" "g.158372509del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158654720del" "" "likely benign" "" "0000063121" "1" "50" "3" "158369880" "158369880" "subst" "0.00118599" "01164" "GFM1_000001" "g.158369880C>G" "" "" "" "" "" "Germline" "" "rs201685981" "0" "" "" "g.158652091C>G" "210958" "VUS" "" "0000063122" "1" "10" "3" "158362393" "158362393" "subst" "0.00646111" "01164" "GFM1_000003" "g.158362393A>G" "frequency up to 0.04" "" "" "" "" "Germline" "" "rs28372853" "0" "" "" "g.158644604A>G" "" "benign" "" "0000096437" "21" "90" "3" "158369943" "158369943" "subst" "4.46722E-5" "01598" "GFM1_000004" "g.158369943C>T" "" "{PMID:Simon 2017:28216230}" "" "" "" "Germline" "yes" "rs139430866" "0" "" "" "g.158652154C>T" "30398" "pathogenic (recessive)" "" "0000096438" "11" "90" "3" "158367854" "158367854" "subst" "0" "01598" "GFM1_000005" "g.158367854G>A" "" "{PMID:Simon 2017:28216230}" "" "689+908G>A NM_001308164.1:c.746+4G>A" "variant activates splice donor site cryptic exon (NM_001308164.1:c.746+4G>A), activating its inclusion in the major mRNA transcript" "Germline" "yes" "" "0" "" "" "g.158650065G>A" "" "pathogenic (recessive)" "" "0000096439" "3" "90" "3" "158369943" "158369943" "subst" "4.46722E-5" "00006" "GFM1_000004" "g.158369943C>T" "" "{PMID:Smits 2011:21119709}, {DOI:Smits 2011:10.1038/ejhg.2010.208}, {OMIM606639:0004}" "" "" "not in 200 control chromosomes; defect rescued by over-expressing normal GFM1 in patient fibroblasts" "Germline" "" "rs139430866" "0" "" "" "g.158652154C>T" "" "pathogenic" "" "0000117399" "3" "90" "3" "158364685" "158364685" "subst" "1.62425E-5" "00006" "GFM1_000006" "g.158364685A>G" "" "{PMID:Coenen 2004:15537906}, {OMIM606639:0001}" "MseI-" "" "not in 200 control chromosomes" "Germline" "yes" "rs119470018" "0" "" "" "g.158646896A>G" "" "pathogenic" "" "0000117400" "11" "90" "3" "158363475" "158363475" "subst" "1.62458E-5" "00006" "GFM1_000007" "g.158363475C>T" "" "{PMID:Valente 2007:17160893}, {OMIM606639:0002}" "" "" "" "Germline" "yes" "rs119470019" "0" "" "" "g.158645686C>T" "" "pathogenic" "" "0000117401" "21" "90" "3" "158383232" "158383232" "subst" "0" "00006" "GFM1_000008" "g.158383232T>G" "" "{PMID:Valente 2007:17160893}, {OMIM606639:0003}" "" "" "" "Germline" "yes" "rs119470020" "0" "" "" "g.158665443T>G" "" "pathogenic" "" "0000117403" "11" "90" "3" "158371219" "158371219" "subst" "4.06312E-6" "00006" "GFM1_000009" "g.158371219T>C" "" "{PMID:Antonicka 2006:16632485}" "" "" "" "Germline" "yes" "" "0" "" "" "g.158653430T>C" "" "pathogenic" "" "0000117404" "21" "90" "3" "158402311" "158402312" "del" "4.06544E-6" "00006" "GFM1_000010" "g.158402311_158402312del" "" "{PMID:Antonicka 2006:16632485}" "" "1765-2_1765-1delAG" "" "Germline" "yes" "" "0" "" "" "g.158684522_158684523del" "" "pathogenic" "" "0000117405" "11" "90" "3" "158364703" "158364703" "del" "0" "00006" "GFM1_000011" "g.158364703del" "" "{PMID:Balasubramaniam 2012:23430926}, {DOI:Balasubramaniam 2012:10.1007/8904_2011_107}" "" "539delG" "" "Germline" "yes" "" "0" "" "" "g.158646914del" "" "pathogenic" "" "0000117406" "21" "90" "3" "158366945" "158366945" "subst" "4.06669E-6" "00006" "GFM1_000012" "g.158366945G>A" "" "{PMID:Balasubramaniam 2012:23430926}, {DOI:Balasubramaniam 2012:10.1007/8904_2011_107}" "" "" "" "Germline" "yes" "" "0" "" "" "g.158649156G>A" "" "pathogenic" "" "0000163900" "21" "90" "3" "158369915" "158369915" "del" "2.03046E-5" "01598" "GFM1_000013" "g.158369915del" "" "{PMID:Calvo 2012:22277967}" "" "720delT" "variant undetectable in mRNA" "Germline" "" "" "0" "" "" "g.158652126del" "" "pathogenic (recessive)" "" "0000163901" "11" "90" "3" "158408053" "158408053" "subst" "6.90484E-5" "01598" "GFM1_000014" "g.158408053C>T" "" "{PMID:Calvo 2012:22277967}" "" "" "protein blots showed reduced to absent levels of GFM1 protein in patient muscle and fibroblasts and reduced amounts of OXPHOS proteins COX2 and NDUFB8, indicating the variant causes protein instability leading to a defect in mtDNA translation and deficiency of complexes I, III and IV" "Germline" "" "rs201408725" "0" "" "" "g.158690264C>T" "214500" "pathogenic" "" "0000163918" "21" "90" "3" "158369915" "158369915" "del" "2.03046E-5" "00006" "GFM1_000013" "g.158369915del" "" "{PMID:Calvo 2012:22277967}, {DOI:Calvo 2012:10.1126/scitranslmed.3003310}" "" "" "variant undetectable in mRNA" "Germline" "" "" "0" "" "" "g.158652126del" "" "pathogenic" "" "0000163919" "10" "90" "3" "158371168" "158371168" "subst" "4.06289E-6" "00006" "GFM1_000015" "g.158371168A>G" "" "{PMID:Calvo 2012:22277967}, {DOI:Calvo 2012:10.1126/scitranslmed.3003310}" "" "" "father not available for analysis; protein blots showed reduced to absent levels of GFM1 protein in patient muscle and fibroblasts and reduced amounts of OXPHOS proteins COX2 and NDUFB8, indicating the variant causes protein instability leading to a defect in mtDNA translation and deficiency of complexes I, III and IV" "Germline" "" "" "0" "" "" "g.158653379A>G" "" "pathogenic" "" "0000281026" "0" "10" "3" "158409262" "158409262" "subst" "0.356863" "02325" "GFM1_000021" "g.158409262C>T" "" "" "" "GFM1(NM_024996.7):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158691473C>T" "" "benign" "" "0000281027" "0" "10" "3" "158399767" "158399767" "dup" "0" "02325" "GFM1_000018" "g.158399767dup" "" "" "" "GFM1(NM_024996.7):c.1602-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158681978dup" "" "benign" "" "0000281028" "0" "30" "3" "158402378" "158402378" "subst" "2.84511E-5" "02325" "GFM1_000019" "g.158402378C>T" "" "" "" "GFM1(NM_024996.7):c.1830C>T (p.V610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158684589C>T" "" "likely benign" "" "0000281029" "0" "10" "3" "158362441" "158362441" "subst" "0.54489" "02325" "GFM1_000016" "g.158362441T>C" "" "" "" "GFM1(NM_024996.7):c.18T>C (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158644652T>C" "" "benign" "" "0000281030" "0" "10" "3" "158366900" "158366900" "subst" "0.542337" "02325" "GFM1_000017" "g.158366900G>A" "" "" "" "GFM1(NM_024996.7):c.643G>A (p.V215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158649111G>A" "" "benign" "" "0000329682" "0" "50" "3" "158408093" "158408093" "subst" "0" "01804" "GFM1_000020" "g.158408093A>C" "" "" "" "GFM1(NM_024996.5):c.2051A>C (p.(Tyr684Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158690304A>C" "" "VUS" "" "0000518384" "0" "30" "3" "158363463" "158363463" "subst" "0.00964632" "01804" "GFM1_000022" "g.158363463A>G" "" "" "" "GFM1(NM_024996.5):c.127A>G (p.(Asn43Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158645674A>G" "" "likely benign" "" "0000518386" "0" "50" "3" "158370003" "158370003" "subst" "4.06111E-6" "01804" "GFM1_000024" "g.158370003G>A" "" "" "" "GFM1(NM_024996.5):c.808G>A (p.(Glu270Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158652214G>A" "" "VUS" "" "0000518389" "0" "30" "3" "158407945" "158407945" "subst" "0" "01804" "GFM1_000027" "g.158407945A>T" "" "" "" "GFM1(NM_024996.5):c.1910-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158690156A>T" "" "likely benign" "" "0000518390" "0" "50" "3" "158407984" "158407984" "subst" "4.06164E-6" "01804" "GFM1_000028" "g.158407984C>T" "" "" "" "GFM1(NM_024996.7):c.1942C>T (p.(Pro648Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158690195C>T" "" "VUS" "" "0000518391" "0" "30" "3" "158408032" "158408032" "subst" "0.0171963" "01804" "GFM1_000029" "g.158408032G>A" "" "" "" "GFM1(NM_024996.5):c.1990G>A (p.(Val664Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158690243G>A" "" "likely benign" "" "0000651119" "1" "50" "3" "158363463" "158363463" "subst" "0.00964632" "03575" "GFM1_000022" "g.158363463A>G" "34/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 34 heterozygous; {DB:CLININrs35942089}" "Germline" "" "rs35942089" "0" "" "" "g.158645674A>G" "" "VUS" "" "0000651120" "1" "70" "3" "158384157" "158384157" "subst" "0" "03575" "GFM1_000031" "g.158384157C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224035}" "Germline" "" "rs863224035" "0" "" "" "g.158666368C>T" "" "likely pathogenic" "" "0000653344" "1" "90" "3" "158363992" "158363992" "del" "0" "03575" "GFM1_000030" "g.158363992del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224033}" "Germline" "" "rs863224033" "0" "" "" "g.158646203del" "" "pathogenic" "" "0000669751" "3" "50" "3" "158363463" "158363463" "subst" "0.00964632" "03575" "GFM1_000022" "g.158363463A>G" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 homozygous; {DB:CLININrs35942089}" "Germline" "" "rs35942089" "0" "" "" "g.158645674A>G" "" "VUS" "" "0000676869" "0" "90" "3" "158369943" "158369943" "subst" "4.46722E-5" "02327" "GFM1_000004" "g.158369943C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719260" "0" "50" "3" "158364074" "158364074" "subst" "0" "02325" "GFM1_000032" "g.158364074A>G" "" "" "" "GFM1(NM_024996.7):c.355A>G (p.I119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719261" "0" "90" "3" "158369915" "158369915" "del" "2.03046E-5" "02327" "GFM1_000013" "g.158369915del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850173" "0" "30" "3" "158367830" "158367830" "subst" "0" "01943" "GFM1_000033" "g.158367830T>C" "" "" "" "GFM1(NM_001308164.1):c.726T>C (p.N242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850174" "0" "30" "3" "158369983" "158369983" "subst" "0.000406072" "01943" "GFM1_000034" "g.158369983A>G" "" "" "" "GFM1(NM_001308164.1):c.845A>G (p.Q282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850175" "0" "30" "3" "158378740" "158378740" "subst" "0" "01943" "GFM1_000035" "g.158378740C>A" "" "" "" "GFM1(NM_001308164.1):c.1356C>A (p.D452E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858848" "0" "10" "3" "158362441" "158362441" "subst" "0.54489" "02327" "GFM1_000016" "g.158362441T>C" "" "" "" "GFM1(NM_024996.7):c.18T>C (p.A6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858849" "0" "10" "3" "158366900" "158366900" "subst" "0.542337" "02327" "GFM1_000017" "g.158366900G>A" "" "" "" "GFM1(NM_024996.7):c.643G>A (p.V215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858850" "0" "10" "3" "158409262" "158409262" "subst" "0.356863" "02327" "GFM1_000021" "g.158409262C>T" "" "" "" "GFM1(NM_024996.7):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911849" "0" "70" "3" "158364705" "158364705" "subst" "0" "02327" "GFM1_000036" "g.158364705T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000918582" "0" "70" "3" "158369971" "158369971" "subst" "1.21819E-5" "01602" "GFM1_000038" "g.158369971A>G" "" "" "" "" "" "Unknown" "" "rs375512235" "" "" "" "" "" "likely pathogenic" "ACMG" "0000975646" "0" "50" "3" "158402371" "158402371" "subst" "1.21947E-5" "01804" "GFM1_000039" "g.158402371G>A" "" "" "" "GFM1(NM_024996.7):c.1823G>A (p.(Arg608Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975647" "0" "50" "3" "158409182" "158409182" "subst" "0" "01804" "GFM1_000040" "g.158409182C>G" "" "" "" "GFM1(NM_024996.7):c.2182C>G (p.(Gln728Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993406" "0" "70" "3" "158364573" "158364573" "subst" "8.12506E-6" "02325" "GFM1_000041" "g.158364573G>A" "" "" "" "GFM1(NM_024996.7):c.409G>A (p.V137M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033781" "0" "50" "3" "158362424" "158362424" "subst" "0" "02325" "GFM1_000042" "g.158362424A>T" "" "" "" "GFM1(NM_024996.7):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033782" "0" "30" "3" "158362500" "158362500" "subst" "0.00292341" "01804" "GFM1_000043" "g.158362500A>G" "" "" "" "GFM1(NM_024996.7):c.77A>G (p.(Lys26Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001068341" "11" "70" "3" "158408053" "158408053" "subst" "6.90484E-5" "00006" "GFM1_000014" "g.158408053C>T" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "" "ACMG PM2, PM3, PP2, PP3, PP5; predicted loss of an exon splice enhancer site (ESE)" "Germline" "" "" "0" "" "" "g.158690264C>T" "" "likely pathogenic" "ACMG" "0001068342" "1" "70" "3" "158408053" "158408053" "subst" "6.90484E-5" "00006" "GFM1_000014" "g.158408053C>T" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "" "ACMG PM2, PM3, PP2, PP3, PP5" "Germline" "" "" "0" "" "" "g.158690264C>T" "" "likely pathogenic" "ACMG" "0001068362" "21" "70" "3" "158367854" "158367854" "subst" "0" "00006" "GFM1_000005" "g.158367854G>A" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "689+908G>A r.(689_690ins57)" "" "Germline" "" "" "0" "" "" "g.158650065G>A" "" "likely pathogenic" "" "0001068363" "2" "90" "3" "158383149" "158383149" "del" "0" "00006" "GFM1_000044" "g.158383149del" "" "{PMID:Bravo-Alonso 2019:31683770}" "" "1404delA" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.158665360del" "" "pathogenic" "ACMG" ## 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 GFM1 ## Count = 52 "{{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}}" "0000063120" "00008462" "30" "1083" "89" "1083" "89" "c.1083+89del" "r.(?)" "p.(=)" "8i" "0000063121" "00008462" "50" "690" "-5" "690" "-5" "c.690-5C>G" "r.spl?" "p.?" "5i" "0000063122" "00008462" "10" "-31" "0" "-31" "0" "c.-31A>G" "r.(?)" "p.(=)" "1" "0000096437" "00008462" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "6" "0000096438" "00008462" "90" "689" "908" "689" "908" "c.689+908G>A" "r.689_690ins689+848_689+904" "p.Gly230_231Glnins19" "5i" "0000096439" "00008462" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "6" "0000117399" "00008462" "90" "521" "0" "521" "0" "c.521A>G" "r.521a>g" "p.Asn174Ser" "4" "0000117400" "00008462" "90" "139" "0" "139" "0" "c.139C>T" "r.139c>u" "p.Arg47*" "2" "0000117401" "00008462" "90" "1487" "0" "1487" "0" "c.1487T>G" "r.1487u>g" "p.Met496Arg" "12" "0000117403" "00008462" "90" "961" "0" "961" "0" "c.961T>C" "r.961u>c" "p.Ser321Pro" "7" "0000117404" "00008462" "90" "1765" "-2" "1765" "-1" "c.1765-2_1765-1del" "r.1765_1909del" "p.Gly589Profs*19" "14i" "0000117405" "00008462" "90" "539" "0" "539" "0" "c.539del" "r.(?)" "p.(Gly180Alafs*11)" "4" "0000117406" "00008462" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Ser)" "5" "0000163900" "00008462" "90" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Glu241Asnfs*2)" "6" "0000163901" "00008462" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.2011c>u" "p.Arg671Cys" "16" "0000163918" "00008462" "90" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Glu241Asnfs*2)" "6" "0000163919" "00008462" "90" "910" "0" "910" "0" "c.910A>G" "r.910a>g" "p.Lys304Glu" "7" "0000281026" "00008462" "10" "2262" "0" "2262" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000281027" "00008462" "10" "1602" "-17" "1602" "-17" "c.1602-17dup" "r.(=)" "p.(=)" "" "0000281028" "00008462" "30" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(Val610=)" "" "0000281029" "00008462" "10" "18" "0" "18" "0" "c.18T>C" "r.(?)" "p.(Ala6=)" "" "0000281030" "00008462" "10" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Ile)" "" "0000329682" "00008462" "50" "2051" "0" "2051" "0" "c.2051A>C" "r.(?)" "p.(Tyr684Ser)" "" "0000518384" "00008462" "30" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Asn43Asp)" "" "0000518386" "00008462" "50" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000518389" "00008462" "30" "1910" "-7" "1910" "-7" "c.1910-7A>T" "r.(=)" "p.(=)" "" "0000518390" "00008462" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" "" "0000518391" "00008462" "30" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Val664Ile)" "" "0000651119" "00008462" "50" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Asn43Asp)" "" "0000651120" "00008462" "70" "1583" "0" "1583" "0" "c.1583C>T" "r.(?)" "p.(Thr528Ile)" "" "0000653344" "00008462" "90" "273" "0" "273" "0" "c.273del" "r.(?)" "p.(Met92TrpfsTer3)" "" "0000669751" "00008462" "50" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Asn43Asp)" "" "0000676869" "00008462" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000719260" "00008462" "50" "355" "0" "355" "0" "c.355A>G" "r.(?)" "p.(Ile119Val)" "" "0000719261" "00008462" "90" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Glu241Asnfs*2)" "" "0000850173" "00008462" "30" "689" "884" "689" "884" "c.689+884T>C" "r.(=)" "p.(=)" "" "0000850174" "00008462" "30" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Gln263Arg)" "" "0000850175" "00008462" "30" "1299" "0" "1299" "0" "c.1299C>A" "r.(?)" "p.(Asp433Glu)" "" "0000858848" "00008462" "10" "18" "0" "18" "0" "c.18T>C" "r.(?)" "p.(Ala6=)" "" "0000858849" "00008462" "10" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Ile)" "" "0000858850" "00008462" "10" "2262" "0" "2262" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000911849" "00008462" "70" "541" "0" "541" "0" "c.541T>C" "r.(?)" "p.(Ser181Pro)" "" "0000918582" "00008462" "70" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000975646" "00008462" "50" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "" "0000975647" "00008462" "50" "2182" "0" "2182" "0" "c.2182C>G" "r.(?)" "p.(Gln728Glu)" "" "0000993406" "00008462" "70" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Val137Met)" "" "0001033781" "00008462" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0001033782" "00008462" "30" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Lys26Arg)" "" "0001068341" "00008462" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.[1910_2070del,2011C>T]" "p.[Ala637GlyfsTer5,Arg671Cys]" "" "0001068342" "00008462" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Cys)" "" "0001068362" "00008462" "70" "689" "908" "689" "908" "c.689+908G>A" "r.689_690ins689+848_689+904" "p.Gly230_231GlninsHFLRDFLPLLWNWDRRSGS" "" "0001068363" "00008462" "90" "1404" "0" "1404" "0" "c.1404del" "r.(?)" "p.(Gly469ValfsTer84)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000035995" "0000063120" "0000035996" "0000063121" "0000035997" "0000063122" "0000064814" "0000096437" "0000064814" "0000096438" "0000064815" "0000096439" "0000073710" "0000117399" "0000073711" "0000117400" "0000073711" "0000117401" "0000073713" "0000117403" "0000073713" "0000117404" "0000073714" "0000117405" "0000073714" "0000117406" "0000101365" "0000163900" "0000101365" "0000163901" "0000101372" "0000163918" "0000101372" "0000163919" "0000294430" "0000651119" "0000294431" "0000651120" "0000296655" "0000653344" "0000306063" "0000669751" "0000432960" "0000918582" "0000474133" "0001068341" "0000474133" "0001068362" "0000474134" "0001068342" "0000474134" "0001068363"