### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GFER) # 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}}" "GFER" "growth factor, augmenter of liver regeneration" "16" "p13.3-p13.12" "unknown" "NG_016288.1" "UD_132084422391" "" "http://www.LOVD.nl/GFER" "" "1" "4236" "2671" "600924" "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/GFER_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-17 11:26:02" "00000" "2025-02-07 18:57:27" ## 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}}" "00008459" "GFER" "growth factor, augmenter of liver regeneration" "001" "NM_005262.2" "" "NP_005253.3" "" "" "" "-70" "2338" "618" "2034150" "2037749" "" "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}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "03243" "MPMCD" "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" "AR" "613076" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-14 16:06:18" "04248" "-" "encephalomyopathy, mitochondrial" "" "" "" "" "" "00006" "2015-05-03 13:18:08" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GFER" "03243" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00073635" "" "" "" "2" "" "01279" "" "Two siblings (one boy and one girl)" "-" "no" "" "" "0" "" "" "" "" "00073639" "" "" "" "2" "" "01279" "" "Two siblings (one boy and one girl)" "" "no" "" "" "0" "" "" "" "" "00074417" "" "" "00074419" "1" "" "01604" "{PMID:Di Fonzo 2009:19409522}, {DOI:Di Fonzo 2009:10.1016/j.ajhg.2009.04.004}" "patient II2" "M" "yes" "" ">17y" "0" "" "" "Moroccan" "" "00074418" "" "" "00074419" "1" "" "01604" "{PMID:Di Fonzo 2009:19409522}, {DOI:Di Fonzo 2009:10.1016/j.ajhg.2009.04.004}" "patient II4" "M" "yes" "Morocco" ">07y" "0" "" "" "Moroccan" "" "00074419" "" "" "" "3" "" "01604" "{PMID:Di Fonzo 2009:19409522}, {DOI:Di Fonzo 2009:10.1016/j.ajhg.2009.04.004}" "2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents, patient II5" "M" "yes" "Morocco" ">03y" "0" "" "" "Moroccan" "" "00074420" "" "" "" "1" "" "01604" "{PMID:Calderwood 2016:26018198}, {DOI:Calderwood 2016:10.1177/0883073815587327}" "No family history" "F" "" "" ">19y" "0" "" "" "" "" "00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1" "00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1" "00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1" "00440357" "" "" "" "1" "" "00006" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "family, several affected" "M" "" "France" "" "0" "" "" "" "Pat41;PED1906.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00073635" "00244" "00073639" "00244" "00074417" "03243" "00074418" "03243" "00074419" "03243" "00074420" "04248" "00434130" "00296" "00434131" "00296" "00434132" "00296" "00440357" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 00296, 03243, 04248, 05611 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000053372" "00244" "00073635" "01279" "Familial, autosomal recessive" "" "Muscular hypotrophy, cognitive and psychomotor delay, epilepsy, congenital cataract, scoliosis, lactic acidosis and deficiency of the mitochondrial respiratory chain" "00y09m" "" "" "" "" "" "" "" "" "0000053375" "00244" "00073639" "01279" "Familial, autosomal recessive" "" "muscular hypotrophy and hypotonia, psychomotor delay, ID, congenital cataract,lactic acidosis, mitochondrial disorders" "" "" "" "" "" "" "" "" "" "0000054238" "04248" "00074420" "01604" "Familial, autosomal recessive" "19y" "adrenal insufficiency (HP:0000846), moderately cognitively delayed (HP:0001263), muscle weakness (HP:0001324), wide-based gait (HP:0002136), neck hyperextension (HP:?), truncal instability (HP:?), restrictive lung disease (HP:0002091), elevated plasma lactate levels (HP:?)," "" "" "lactic acidosis (HP:0003128), poor feeding (HP:0011968), irritability (HP:0000737), hepatomegaly (HP:0002240), bilateral cataracts (HP:0000519)" "" "" "" "" "" "" "0000054269" "03243" "00074419" "01604" "Familial, autosomal recessive" "03y" "congenital cataract (HP:0000519), slight axial hypotonia (HP:0000519)" "" "" "" "" "" "" "" "" "" "0000054270" "03243" "00074418" "01604" "Familial, autosomal recessive" "07y" "congenital cataract (HP:0000519), progressive axial hypotonia (HP:0008936), unilateral ptosis (HP:0007687), slight sensorineural hearing loss (HP:0000407), diffuse muscle hypotrophy (HP:0003202), hypotonia (HP:0001252), low serum ferritin (HP:?)" "" "" "" "" "" "" "" "" "" "0000054271" "03243" "00074417" "01604" "Familial, autosomal recessive" "17y" "psychomotor delay (HP:0001263), progressive visual deficit (HP:0000529), retinal detachment (HP:0000541), severe visual impairment (HP:0001141), severe progressive hearing loss (HP:0001730), bilateral ptosis (HP:0001488), generalized muscular hypotonia (HP:0001290), lower limb hypotrophy (HP:0008944), rotatory nystagmus (HP:0001583), no proximal (-HP:0003701) and distal muscle weakness (-HP:0002460), reduced tendon reflexes (HP:0001315), hypoferritinemia (HP:?), hyperamylasemia (HP:?), hyperCKemia (HP:?), thin corpus callosum (HP:0002079)" "00y01m" "" "axial hypotonia (HP:0008936), congenital cataract (HP:0000519)" "" "" "" "" "" "" "0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "CTRCT14" "cataract" "0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "CTRCT33" "cataract" "0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "CTRCT6" "cataract" "0000330267" "05611" "00440357" "00006" "Familial, autosomal recessive" "21y" "epilepsy; epileptic encephalopathy" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073796" "00073635" "1" "01279" "01279" "2016-06-13 10:56:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000073799" "00073639" "1" "01279" "01279" "2016-06-13 11:33:24" "" "" "SEQ-NG" "DNA" "blood" "" "0000074578" "00074417" "1" "01604" "01604" "2016-06-29 11:31:43" "" "" "PCR;PCRq;SEQ" "DNA;RNA" "" "" "0000074579" "00074418" "1" "01604" "01604" "2016-06-29 11:45:57" "" "" "PCR;PCRq;SEQ" "DNA;RNA" "" "" "0000074580" "00074419" "1" "01604" "01604" "2016-06-29 11:52:58" "" "" "PCR;PCRq;SEQ" "DNA;RNA" "" "" "0000074581" "00074420" "1" "01604" "01604" "2016-06-29 14:23:43" "" "" "SEQ-NG" "DNA" "" "" "0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000441842" "00440357" "1" "00006" "00006" "2023-11-02 11:20:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000073796" "GFER" "0000073799" "GFER" "0000074578" "GFER" "0000074579" "GFER" "0000074580" "GFER" "0000074581" "GFER" ## 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 = 35 "{{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}}" "0000117510" "21" "90" "16" "2034438" "2034438" "del" "0" "01279" "GFER_000001" "g.2034438del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.1984437del" "" "pathogenic" "" "0000117511" "11" "90" "16" "2034723" "2034724" "del" "0" "01279" "GFER_000002" "g.2034723_2034724del" "" "" "" "ENST00000567719.1:c.9_10del (Ser3fs)" "" "Germline" "yes" "" "0" "" "" "g.1984722_1984723del" "" "pathogenic" "" "0000117512" "1" "90" "16" "2035992" "2035992" "subst" "3.25521E-5" "01279" "GFER_000004" "g.2035992G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.1985991G>A" "" "pathogenic" "" "0000117513" "2" "90" "16" "2034436" "2034436" "del" "0" "01279" "GFER_000003" "g.2034436del" "" "" "" "217delG" "" "Germline" "yes" "" "0" "" "" "g.1984435del" "" "pathogenic" "" "0000118958" "3" "90" "16" "2035992" "2035992" "subst" "3.25521E-5" "01604" "GFER_000004" "g.2035992G>A" "" "{PMID:Di Fonzo 2009:19409522}, {DOI:Di Fonzo 2009:10.1016/j.ajhg.2009.04.004}, {OMIM:600924:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1985991G>A" "" "pathogenic" "" "0000118959" "3" "90" "16" "2035992" "2035992" "subst" "3.25521E-5" "01604" "GFER_000004" "g.2035992G>A" "" "{PMID:Di Fonzo 2009:19409522}, {DOI:Di Fonzo 2009:10.1016/j.ajhg.2009.04.004}, {OMIM:600924:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1985991G>A" "" "pathogenic" "" "0000118960" "3" "90" "16" "2035992" "2035992" "subst" "3.25521E-5" "01604" "GFER_000004" "g.2035992G>A" "" "{PMID:Di Fonzo 2009:19409522}, {DOI:Di Fonzo 2009:10.1016/j.ajhg.2009.04.004}, {OMIM:600924:0001}" "" "" "not in 1126 control chromosomes" "Germline" "yes" "rs121908192" "0" "" "" "g.1985991G>A" "" "pathogenic" "" "0000118961" "1" "70" "16" "2035992" "2035992" "subst" "3.25521E-5" "01604" "GFER_000004" "g.2035992G>A" "" "{PMID:Calderwood 2016:26018198}, {DOI:Calderwood 2016:10.1177/0883073815587327}" "" "" "" "Germline" "" "" "0" "" "" "g.1985991G>A" "" "likely pathogenic" "" "0000118962" "2" "90" "16" "2034862" "2034862" "subst" "3.65833E-5" "01604" "GFER_000005" "g.2034862C>T" "" "{PMID:Calderwood 2016:26018198}, {DOI:Calderwood 2016:10.1177/0883073815587327}" "" "" "" "Germline" "" "" "0" "" "" "g.1984861C>T" "" "pathogenic" "" "0000254632" "0" "30" "16" "2034758" "2034758" "subst" "0.00025633" "01943" "GFER_000007" "g.2034758A>G" "" "" "" "GFER(NM_005262.2):c.269A>G (p.K90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1984757A>G" "" "likely benign" "" "0000281024" "0" "70" "16" "2035991" "2035991" "subst" "3.66229E-5" "02325" "GFER_000008" "g.2035991C>T" "" "" "" "GFER(NM_005262.3):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1985990C>T" "" "likely pathogenic" "" "0000288293" "0" "30" "16" "2034408" "2034408" "subst" "0.000937339" "01943" "GFER_000006" "g.2034408G>C" "" "" "" "GFER(NM_005262.2):c.189G>C (p.E63D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1984407G>C" "" "likely benign" "" "0000288294" "0" "50" "16" "2036002" "2036002" "subst" "0.000236087" "01943" "GFER_000009" "g.2036002C>G" "" "" "" "GFER(NM_005262.2):c.591C>G (p.D197E), GFER(NM_005262.3):c.591C>G (p.(Asp197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1986001C>G" "" "VUS" "" "0000288295" "0" "50" "16" "2036012" "2036012" "subst" "4.07206E-5" "01943" "GFER_000010" "g.2036012G>A" "" "" "" "GFER(NM_005262.2):c.601G>A (p.D201N), GFER(NM_005262.3):c.601G>A (p.(Asp201Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1986011G>A" "" "VUS" "" "0000324451" "0" "50" "16" "2029312" "2029312" "subst" "0.00169309" "01804" "NOXO1_000002" "g.2029312A>C" "" "" "" "NOXO1(NM_001267721.1):c.869T>G (p.(Leu290Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1979311A>C" "" "VUS" "" "0000324453" "0" "50" "16" "2029313" "2029313" "subst" "0.00169376" "01804" "NOXO1_000003" "g.2029313G>C" "" "" "" "NOXO1(NM_001267721.1):c.868C>G (p.(Leu290Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1979312G>C" "" "VUS" "" "0000557063" "0" "30" "16" "2042727" "2042727" "subst" "1.47132E-5" "01804" "GFER_000012" "g.2042727G>A" "" "" "" "SYNGR3(NM_004209.5):c.428G>A (p.(Gly143Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1992726G>A" "" "likely benign" "" "0000623392" "0" "90" "16" "2034766" "2034766" "subst" "0" "01943" "GFER_000013" "g.2034766G>T" "" "" "" "GFER(NM_005262.2):c.277G>T (p.E93*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1984765G>T" "" "pathogenic" "" "0000680437" "0" "50" "16" "2036000" "2036000" "subst" "2.03508E-5" "01943" "GFER_000014" "g.2036000G>A" "" "" "" "GFER(NM_005262.2):c.589G>A (p.D197N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691963" "0" "50" "16" "2034322" "2034322" "subst" "0" "01943" "GFER_000015" "g.2034322C>T" "" "" "" "GFER(NM_005262.2):c.103C>T (p.R35W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725511" "0" "30" "16" "2034242" "2034242" "subst" "0" "01943" "GFER_000016" "g.2034242G>C" "" "" "" "GFER(NM_005262.2):c.23G>C (p.G8A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725512" "0" "90" "16" "2034478" "2034478" "subst" "6.46312E-6" "01943" "GFER_000017" "g.2034478G>A" "" "" "" "GFER(NM_005262.2):c.258+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854315" "0" "50" "16" "2034328" "2034340" "del" "0" "01943" "GFER_000018" "g.2034328_2034340del" "" "" "" "GFER(NM_005262.2):c.109_121delCGGGGCGCGGGGC (p.R37Gfs*109)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914498" "0" "50" "16" "2034876" "2034876" "subst" "0" "01804" "GFER_000019" "g.2034876G>A" "" "" "" "GFER(NM_005262.2):c.387G>A (p.(Met129Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921663" "0" "30" "16" "2035868" "2035868" "subst" "0.15345" "00006" "GFER_000020" "g.2035868C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1046502" "0" "" "" "g.1985867C>T" "" "likely benign" "" "0000921693" "0" "30" "16" "2035868" "2035868" "subst" "0.15345" "00006" "GFER_000020" "g.2035868C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1046502" "0" "" "" "g.1985867C>T" "" "likely benign" "" "0000921717" "0" "30" "16" "2035868" "2035868" "subst" "0.15345" "00006" "GFER_000020" "g.2035868C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs1046502" "0" "" "" "g.1985867C>T" "" "likely benign" "" "0000939779" "1" "90" "16" "2034438" "2034438" "del" "0" "00006" "GFER_000001" "g.2034438del" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "c.219delC" "" "Germline" "" "" "0" "" "" "g.1984437del" "" "likely pathogenic (recessive)" "" "0000939782" "2" "90" "16" "2034723" "2034724" "del" "0" "00006" "GFER_000002" "g.2034723_2034724del" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "259-26_259-25delCA" "" "Germline" "" "" "0" "" "" "g.1984722_1984723del" "" "likely pathogenic (recessive)" "" "0000950536" "0" "50" "16" "2034903" "2034903" "subst" "0" "01804" "GFER_000021" "g.2034903G>C" "" "" "" "GFER(NM_005262.2):c.414G>C (p.(Lys138Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981677" "0" "50" "16" "2036002" "2036002" "subst" "0.000236087" "01804" "GFER_000009" "g.2036002C>G" "" "" "" "GFER(NM_005262.2):c.591C>G (p.D197E), GFER(NM_005262.3):c.591C>G (p.(Asp197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981678" "0" "50" "16" "2036012" "2036012" "subst" "4.07206E-5" "01804" "GFER_000010" "g.2036012G>A" "" "" "" "GFER(NM_005262.2):c.601G>A (p.D201N), GFER(NM_005262.3):c.601G>A (p.(Asp201Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002012" "0" "30" "16" "2042220" "2042220" "subst" "0" "01804" "GFER_000022" "g.2042220G>A" "" "" "" "SYNGR3(NM_004209.5):c.337+8G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026582" "0" "50" "16" "2034720" "2034720" "subst" "8.46955E-6" "02327" "GFER_000023" "g.2034720C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026583" "0" "50" "16" "2035991" "2035991" "subst" "3.66229E-5" "02327" "GFER_000008" "g.2035991C>T" "" "" "" "GFER(NM_005262.3):c.580C>T (p.R194C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GFER ## Count = 35 "{{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}}" "0000117510" "00008459" "90" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Cys74Alafs*76)" "1" "0000117511" "00008459" "90" "259" "-25" "259" "-24" "c.259-25_259-24del" "r.(?)" "p.(=)" "1" "0000117512" "00008459" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194His)" "3" "0000117513" "00008459" "90" "217" "0" "217" "0" "c.217del" "r.(?)" "p.(Ala73Profs*77)" "1" "0000118958" "00008459" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194His)" "3" "0000118959" "00008459" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194His)" "3" "0000118960" "00008459" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194His)" "3" "0000118961" "00008459" "70" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194His)" "3" "0000118962" "00008459" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Gln125*)" "2" "0000254632" "00008459" "30" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Lys90Arg)" "" "0000281024" "00008459" "70" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" "0000288293" "00008459" "30" "189" "0" "189" "0" "c.189G>C" "r.(?)" "p.(Glu63Asp)" "" "0000288294" "00008459" "50" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Asp197Glu)" "" "0000288295" "00008459" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "" "0000324451" "00008459" "50" "-4908" "0" "-4908" "0" "c.-4908A>C" "r.(?)" "p.(=)" "" "0000324453" "00008459" "50" "-4907" "0" "-4907" "0" "c.-4907G>C" "r.(?)" "p.(=)" "" "0000557063" "00008459" "30" "7316" "0" "7316" "0" "c.*6698G>A" "r.(=)" "p.(=)" "" "0000623392" "00008459" "90" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Glu93Ter)" "" "0000680437" "00008459" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" "" "0000691963" "00008459" "50" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Trp)" "" "0000725511" "00008459" "30" "23" "0" "23" "0" "c.23G>C" "r.(?)" "p.(Gly8Ala)" "" "0000725512" "00008459" "90" "258" "1" "258" "1" "c.258+1G>A" "r.spl?" "p.?" "" "0000854315" "00008459" "50" "109" "0" "121" "0" "c.109_121del" "r.(?)" "p.(Arg37Glyfs*109)" "" "0000914498" "00008459" "50" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Met129Ile)" "" "0000921663" "00008459" "30" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0000921693" "00008459" "30" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0000921717" "00008459" "30" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153=)" "" "0000939779" "00008459" "90" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Cys74AlafsTer76)" "" "0000939782" "00008459" "90" "259" "-25" "259" "-24" "c.259-25_259-24del" "r.spl" "p.?" "" "0000950536" "00008459" "50" "414" "0" "414" "0" "c.414G>C" "r.(?)" "p.(Lys138Asn)" "" "0000981677" "00008459" "50" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Asp197Glu)" "" "0000981678" "00008459" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "" "0001002012" "00008459" "30" "6809" "0" "6809" "0" "c.*6191G>A" "r.(=)" "p.(=)" "" "0001026582" "00008459" "50" "259" "-28" "259" "-28" "c.259-28C>G" "r.(=)" "p.(=)" "" "0001026583" "00008459" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000073796" "0000117510" "0000073796" "0000117511" "0000073799" "0000117512" "0000073799" "0000117513" "0000074578" "0000118958" "0000074579" "0000118959" "0000074580" "0000118960" "0000074581" "0000118961" "0000074581" "0000118962" "0000435597" "0000921663" "0000435598" "0000921693" "0000435599" "0000921717" "0000441842" "0000939779" "0000441842" "0000939782"