### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGF13) # 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}}" "FGF13" "fibroblast growth factor 13" "X" "q26.3" "unknown" "NC_000023.10" "UD_132319004005" "" "https://www.LOVD.nl/FGF13" "" "1" "3670" "2258" "300070" "1" "1" "1" "1" "Alias FHF2.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FGF13_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-12-01 10:58:40" "00000" "2026-01-20 18:57:21" ## 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}}" "00000508" "FGF13" "transcript variant 1" "006" "NM_004114.3" "" "NP_004105.1" "" "" "" "-662" "2015" "738" "137713734" "137793827" "00000" "2012-09-13 12:25:02" "" "" ## 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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "07088" "DEE90" "encephalopathy, developmental and epileptic, type 90" "XLD;XLR" "301058" "" "" "" "00006" "2024-05-29 10:55:29" "" "" "07089" "XLID110" "intellectual developmental disorder, X-linked type 110" "XLR" "301095" "" "" "" "00006" "2024-05-29 10:56:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FGF13" "07088" "FGF13" "07089" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00324120" "" "" "" "2" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "2-generation family, affected brother/sister" "M" "" "Wales" "" "0" "" "" "" "FamAPat1" "00324121" "" "" "00324120" "1" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "sister" "F" "" "Wales" "" "0" "" "" "" "FamAPat2" "00324122" "" "" "" "2" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "2-generation family, 2 affected brothers" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamBPat3" "00324123" "" "" "00324122" "1" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "brother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamBPat4" "00324124" "" "" "" "1" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "2-generation family, 1 affected, unaffected parents" "M" "" "Canada" "" "0" "" "" "white" "FamCPat5" "00324125" "" "" "" "1" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamDPat6" "00324126" "" "" "" "1" "" "00006" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "2-generation family, 1 affected, unaffected parents (half-first cousins)" "M" "yes" "China" "" "0" "" "" "" "FamEPat7" "00450519" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}, {PMID:Steyaert 2025:40138663}" "" "F" "" "" "" "0" "" "" "" "F039.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00324120" "00198" "00324121" "00198" "00324122" "00198" "00324123" "00198" "00324124" "00198" "00324125" "00198" "00324126" "00198" "00450519" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 07088, 07089 ## Count = 10 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000242701" "00198" "00324120" "00006" "Isolated (sporadic)" "15y" "13y10m-OFC-1.4 SD; profound intellectual disability or developmental delay; 11d-apneas, repetitive swallowing, head deviation, eye twitching; 2m-focal seizures, 7m-generalized seizures; EEG multiple epileptogenic temporal foci, epilepsy of infancy with migrating focal seizures considered; hypotonia, no hyperreflexia; constipation, abdominal pain, subtotal colectomy, ileostomy" "11d" "" "11d-apneas, repetitive swallowing, head deviation, eye twitching" "" "" "" "" "" "" "" "" "0000242702" "00198" "00324121" "00006" "Isolated (sporadic)" "13y" "6y9m-OFC +0.8 SD; severe intellectual disability or developmental delay; 11d-apneas, lip smacking, repetitive swallowing, eye deviation, facial twitching; 11m-focal seizures, rarely generalized; 6y8m-ictal EEG, left fronto-temporal focus; normal tone, normal reflexes; left anterior temporal lobectomy, partial amygdalo-hippocampectomy" "11d" "" "11d-apneas, lip smacking, repetitive swallowing, eye deviation, facial twitching" "" "" "" "" "" "" "" "" "0000242703" "00198" "00324122" "00006" "Isolated (sporadic)" "19y" "19y-OFC -0.2 SD; severe intellectual disability or developmental delay; 4w-apneas, stiffness; 2m-focal seizures, 6m-flexor spasms; 6m-EEG hypsarrhythmia suggestive Lennox-Gastaut syndrome; low axial tone, mild limb hypertonia, no hyperreflexia or tremor; severe scoliosis" "28d" "" "4w-apneas, stiffness" "" "" "" "" "" "" "" "" "0000242704" "00198" "00324123" "00006" "Isolated (sporadic)" "12y" "12y5m-OFC -1.4 SD; severe intellectual disability or developmental delay; 6m-head and eye deviation, twitching; 6m-focal seizures, 2.5y-generalized seizures, episodes of nonconvulsive status epilepticus, tonic seizures, vomiting currently; 2.5y-EEG hypsarrhythmia, 11y-EEG suggestive Lennox-Gastaut syndrome; broad-based, unsteady gait, mildly increased limb tone; antenatal renal pelvic dilatation, recurrent urinary tract infection, nephrectomy" "6m" "" "6m-head and eye deviation, twitching" "" "" "" "" "" "" "" "" "0000242705" "00198" "00324124" "00006" "Isolated (sporadic)" "2y3m" "22m-OFC -1.1 SD; profound intellectual disability or developmental delay; 5d-head and eye deviation, blinking, repetitive swallowing; focal dyscognitive seizures; EEG multiple epileptogenic temporal foci, suggestive Lennox-Gastaut syndrome; hypotonia, periodic abnormal posturing; hypothyroidism" "5d" "" "5d-head and eye deviation, blinking, repetitive swallowing" "" "" "" "" "" "" "" "" "0000242706" "00198" "00324125" "00006" "Isolated (sporadic)" "5y" "5y-OFC -2.5 SD; severe intellectual disability or developmental delay; 1d-apnea, cyanosis; epilepsy; atrial septal defect" "1d" "" "1d-apnea, cyanosis" "" "" "" "" "" "" "" "" "0000242707" "00198" "00324126" "00006" "Isolated (sporadic)" "5y8m" "3y2m-OFC -2.6 SD; severe intellectual disability or developmental delay; 6m-focal siezures; 6m-focal seizure, also spasms, myoclonic seizures, generalized tonic-clonic seizures; 23m-EEG atypical hypsarrhythmia and intermittent burst suppression; limb hypertonia, positive Babinski sign, ankle clonus; 14m-regression" "6m" "" "6m-focal siezures" "" "" "" "" "" "" "" "" "0000339574" "00198" "00450519" "00006" "Isolated (sporadic)" "" "arthrogryposis multiplex congenita, thoracolumbar scoliosis, restrictive ventilatory defect" "" "" "" "" "" "" "" "" "" "arthrogryposis multiplex congenita" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000325309" "00324120" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325310" "00324121" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325311" "00324122" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325312" "00324123" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325313" "00324124" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325314" "00324125" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325315" "00324126" "1" "00006" "00006" "2020-12-01 12:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" "0000452117" "00450519" "1" "00006" "00006" "2024-05-29 10:58:58" "" "" "SEQ;SEQ-PB" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000325309" "FGF13" "0000325310" "FGF13" "0000325311" "FGF13" "0000325312" "FGF13" "0000325313" "FGF13" "0000325314" "FGF13" "0000325315" "FGF13" ## 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 = 39 "{{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}}" "0000002177" "20" "50" "X" "137793426" "137793426" "del" "0" "00037" "FGF13_000009" "g.137793426del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711264del" "" "VUS" "" "0000003263" "0" "50" "X" "137714336" "137714336" "del" "0" "00037" "FGF13_000017" "g.137714336del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138632175del" "" "VUS" "" "0000003264" "20" "50" "X" "137793423" "137793423" "del" "0" "00037" "FGF13_000015" "g.137793423del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711261del" "" "VUS" "" "0000003265" "20" "50" "X" "137793515" "137793515" "dup" "0" "00037" "FGF13_000019" "g.137793515dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711353dup" "" "VUS" "" "0000003266" "20" "50" "X" "137793546" "137793546" "del" "0" "00037" "FGF13_000013" "g.137793546del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711384del" "" "VUS" "" "0000007746" "20" "50" "X" "137793477" "137793477" "subst" "0" "00037" "FGF13_000011" "g.137793477T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711315T>C" "" "VUS" "" "0000007747" "20" "50" "X" "137793642" "137793642" "subst" "0" "00037" "FGF13_000003" "g.137793642C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711480C>G" "" "VUS" "" "0000007748" "20" "50" "X" "137793653" "137793653" "subst" "0" "00037" "FGF13_000006" "g.137793653C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711491C>G" "" "VUS" "" "0000009897" "20" "50" "X" "137793426" "137793426" "del" "0" "00037" "FGF13_000009" "g.137793426del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711264del" "" "VUS" "" "0000009898" "20" "50" "X" "137793642" "137793642" "subst" "0" "00037" "FGF13_000003" "g.137793642C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711480C>G" "" "VUS" "" "0000009899" "20" "50" "X" "137793653" "137793653" "subst" "0" "00037" "FGF13_000006" "g.137793653C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711491C>G" "" "VUS" "" "0000011248" "0" "50" "X" "137714336" "137714336" "del" "0" "00037" "FGF13_000017" "g.137714336del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138632175del" "" "VUS" "" "0000011249" "20" "50" "X" "137793423" "137793423" "del" "0" "00037" "FGF13_000015" "g.137793423del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711261del" "" "VUS" "" "0000011250" "20" "50" "X" "137793515" "137793515" "dup" "0" "00037" "FGF13_000019" "g.137793515dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711353dup" "" "VUS" "" "0000011251" "20" "50" "X" "137793546" "137793546" "del" "0" "00037" "FGF13_000013" "g.137793546del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711384del" "" "VUS" "" "0000015717" "20" "50" "X" "137793477" "137793477" "subst" "0" "00037" "FGF13_000011" "g.137793477T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.138711315T>C" "" "VUS" "" "0000283918" "0" "50" "X" "137715111" "137715111" "subst" "0" "02326" "FGF13_000020" "g.137715111G>A" "" "" "" "FGF13(NM_004114.5):c.638C>T (p.T213M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138632950G>A" "" "VUS" "" "0000287378" "0" "50" "X" "137792979" "137792979" "subst" "0" "01943" "FGF13_000021" "g.137792979C>A" "" "" "" "FGF13(NM_004114.4):c.187G>T (p.E63*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138710817C>A" "" "VUS" "" "0000287379" "0" "30" "X" "137793091" "137793091" "subst" "0.000313624" "01943" "FGF13_000022" "g.137793091G>A" "" "" "" "FGF13(NM_004114.4):c.75C>T (p.C25=), FGF13(NM_004114.5):c.75C>T (p.(Cys25=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138710929G>A" "" "likely benign" "" "0000573847" "0" "30" "X" "137715061" "137715061" "subst" "0.000218424" "01943" "FGF13_000023" "g.137715061A>G" "" "" "" "FGF13(NM_004114.4):c.688T>C (p.S230P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138632900A>G" "" "likely benign" "" "0000573874" "0" "30" "X" "137793091" "137793091" "subst" "0.000313624" "01804" "FGF13_000022" "g.137793091G>A" "" "" "" "FGF13(NM_004114.4):c.75C>T (p.C25=), FGF13(NM_004114.5):c.75C>T (p.(Cys25=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138710929G>A" "" "likely benign" "" "0000708283" "21" "90" "X" "137793135" "137793135" "subst" "0" "00006" "FGF13_000026" "g.137793135G>A" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "maternal gonadal mosaicism" "Germline" "" "" "0" "" "" "g.138710973G>A" "" "pathogenic" "" "0000708284" "21" "90" "X" "137793135" "137793135" "subst" "0" "00006" "FGF13_000026" "g.137793135G>A" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "maternal gonadal mosaicism" "Germline" "" "" "0" "" "" "g.138710973G>A" "" "pathogenic (dominant)" "" "0000708285" "21" "90" "X" "137793135" "137793135" "subst" "0" "00006" "FGF13_000026" "g.137793135G>A" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "maternal somatic mosaicism" "Germline" "" "" "0" "" "" "g.138710973G>A" "" "pathogenic" "" "0000708286" "21" "90" "X" "137793135" "137793135" "subst" "0" "00006" "FGF13_000026" "g.137793135G>A" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "maternal somatic mosaicism" "Germline" "" "" "0" "" "" "g.138710973G>A" "" "pathogenic" "" "0000708287" "0" "90" "X" "137793135" "137793135" "subst" "0" "00006" "FGF13_000026" "g.137793135G>A" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "" "De novo" "" "" "0" "" "" "g.138710973G>A" "" "pathogenic" "" "0000708288" "0" "90" "X" "137793125" "137793125" "subst" "0" "00006" "FGF13_000024" "g.137793125C>G" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "" "Unknown" "" "" "0" "" "" "g.138710963C>G" "" "pathogenic" "" "0000708289" "0" "90" "X" "137793134" "137793134" "subst" "0" "00006" "FGF13_000025" "g.137793134C>G" "" "{PMID:Fry 2020:33245860}, {DOI:Fry 2020:10.1016/j.ajhg.2020.10.017}" "" "" "mosaic" "Somatic" "" "" "0" "" "" "g.138710972C>G" "" "pathogenic" "" "0000809952" "0" "10" "X" "137715056" "137715056" "subst" "0.000806899" "01943" "FGF13_000027" "g.137715056G>A" "" "" "" "FGF13(NM_004114.4):c.693C>T (p.G231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809960" "0" "30" "X" "137821409" "137821409" "subst" "0.000367791" "01943" "FGF13_000028" "g.137821409T>C" "" "" "" "FGF13(NM_033642.2):c.23A>G (p.Y8C), FGF13(NM_033642.3):c.23A>G (p.Y8C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970802" "0" "30" "X" "137821409" "137821409" "subst" "0.000367791" "02325" "FGF13_000028" "g.137821409T>C" "" "" "" "FGF13(NM_033642.2):c.23A>G (p.Y8C), FGF13(NM_033642.3):c.23A>G (p.Y8C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984479" "0" "50" "X" "137793426" "137793426" "subst" "0" "01804" "FGF13_000029" "g.137793426C>G" "" "" "" "FGF13(NM_004114.5):c.-261G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984480" "0" "50" "X" "137973400" "137973400" "subst" "0" "01804" "FGF13_000030" "g.137973400T>C" "" "" "" "FGF13(NM_001139500.2):c.50-33559A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986097" "0" "70" "X" "138247049" "138761473" "dup" "0" "00006" "FGF13_000031" "g.138247049_138761473dup" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}, {PMID:Steyaert 2025:40138663}" "" "" "variant predicted to give a fusion transcript and to be associated with the disease phenotype" "De novo" "" "" "0" "" "" "g.139164887_139679311dup" "" "likely pathogenic (dominant)" "" "0001044133" "0" "30" "X" "138286432" "138286432" "subst" "0" "01804" "FGF13_000032" "g.138286432G>A" "" "" "" "FGF13(NM_001139498.2):c.-163C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057417" "0" "50" "X" "137821412" "137821412" "subst" "0" "01804" "FGF13_000033" "g.137821412G>A" "" "" "" "FGF13(NM_033642.3):c.20C>T (p.(Ser7Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067797" "0" "50" "X" "137939692" "137939692" "subst" "0" "02325" "FGF13_000034" "g.137939692C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067798" "0" "50" "X" "137939822" "137939822" "del" "6.16812E-6" "02325" "FGF13_000035" "g.137939822del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067799" "0" "30" "X" "138286432" "138286432" "subst" "0" "02325" "FGF13_000032" "g.138286432G>A" "" "" "" "FGF13(NM_001139498.2):c.-163C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FGF13 ## Count = 39 "{{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}}" "0000002177" "00000508" "50" "-259" "0" "-259" "0" "c.-259del" "r.(?)" "p.(=)" "" "0000003263" "00000508" "50" "1413" "0" "1413" "0" "c.*675del" "r.(=)" "p.(=)" "" "0000003264" "00000508" "50" "-256" "0" "-256" "0" "c.-256del" "r.(?)" "p.(=)" "" "0000003265" "00000508" "50" "-350" "0" "-350" "0" "c.-350dup" "r.(?)" "p.(=)" "" "0000003266" "00000508" "50" "-377" "0" "-377" "0" "c.-377del" "r.(?)" "p.(=)" "" "0000007746" "00000508" "50" "-312" "0" "-312" "0" "c.-312A>G" "r.(?)" "p.(=)" "" "0000007747" "00000508" "50" "-477" "0" "-477" "0" "c.-477G>C" "r.(?)" "p.(=)" "" "0000007748" "00000508" "50" "-488" "0" "-488" "0" "c.-488G>C" "r.(?)" "p.(=)" "" "0000009897" "00000508" "50" "-259" "0" "-259" "0" "c.-259del" "r.(?)" "p.(=)" "" "0000009898" "00000508" "50" "-477" "0" "-477" "0" "c.-477G>C" "r.(?)" "p.(=)" "" "0000009899" "00000508" "50" "-488" "0" "-488" "0" "c.-488G>C" "r.(?)" "p.(=)" "" "0000011248" "00000508" "50" "1413" "0" "1413" "0" "c.*675del" "r.(=)" "p.(=)" "" "0000011249" "00000508" "50" "-256" "0" "-256" "0" "c.-256del" "r.(?)" "p.(=)" "" "0000011250" "00000508" "50" "-350" "0" "-350" "0" "c.-350dup" "r.(?)" "p.(=)" "" "0000011251" "00000508" "50" "-377" "0" "-377" "0" "c.-377del" "r.(?)" "p.(=)" "" "0000015717" "00000508" "50" "-312" "0" "-312" "0" "c.-312A>G" "r.(?)" "p.(=)" "" "0000283918" "00000508" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Thr213Met)" "" "0000287378" "00000508" "50" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Glu63Ter)" "" "0000287379" "00000508" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Cys25=)" "" "0000573847" "00000508" "30" "688" "0" "688" "0" "c.688T>C" "r.(?)" "p.(Ser230Pro)" "" "0000573874" "00000508" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Cys25=)" "" "0000708283" "00000508" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0000708284" "00000508" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0000708285" "00000508" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0000708286" "00000508" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0000708287" "00000508" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0000708288" "00000508" "90" "41" "0" "41" "0" "c.41G>C" "r.(?)" "p.(Arg14Thr)" "" "0000708289" "00000508" "90" "32" "0" "32" "0" "c.32G>C" "r.(?)" "p.(Arg11Pro)" "" "0000809952" "00000508" "10" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(Gly231=)" "" "0000809960" "00000508" "30" "-28244" "0" "-28244" "0" "c.-28244A>G" "r.(?)" "p.(=)" "" "0000970802" "00000508" "30" "-28244" "0" "-28244" "0" "c.-28244A>G" "r.(?)" "p.(=)" "" "0000984479" "00000508" "50" "-261" "0" "-261" "0" "c.-261G>C" "r.(?)" "p.(=)" "" "0000984480" "00000508" "50" "-180235" "0" "-180235" "0" "c.-180235A>G" "r.(?)" "p.(=)" "" "0000986097" "00000508" "70" "-968308" "0" "-453884" "0" "c.-968308_-453884dup" "r.?" "p.?" "_1" "0001044133" "00000508" "30" "-493267" "0" "-493267" "0" "c.-493267C>T" "r.(?)" "p.(=)" "" "0001057417" "00000508" "50" "-28247" "0" "-28247" "0" "c.-28247C>T" "r.(?)" "p.(=)" "" "0001067797" "00000508" "50" "-146527" "0" "-146527" "0" "c.-146527G>A" "r.(?)" "p.(=)" "" "0001067798" "00000508" "50" "-146657" "0" "-146657" "0" "c.-146657del" "r.(?)" "p.(=)" "" "0001067799" "00000508" "30" "-493267" "0" "-493267" "0" "c.-493267C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002177" "0000000209" "0000003263" "0000000209" "0000003264" "0000000209" "0000003265" "0000000209" "0000003266" "0000000209" "0000007746" "0000000209" "0000007747" "0000000209" "0000007748" "0000000210" "0000009897" "0000000210" "0000009898" "0000000210" "0000009899" "0000000210" "0000011248" "0000000210" "0000011249" "0000000210" "0000011250" "0000000210" "0000011251" "0000000210" "0000015717" "0000325309" "0000708283" "0000325310" "0000708284" "0000325311" "0000708285" "0000325312" "0000708286" "0000325313" "0000708287" "0000325314" "0000708288" "0000325315" "0000708289" "0000452117" "0000986097"