### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM13B) # 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}}" "FAM13B" "family with sequence similarity 13, member B" "5" "q31" "unknown" "NC_000005.9" "UD_132610743150" "" "http://www.LOVD.nl/FAM13B" "" "1" "1335" "51306" "609371" "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/FAM13B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-10 06:16:53" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024095" "FAM13B" "transcript variant 1" "003" "NM_016603.2" "" "NP_057687.2" "" "" "" "-534" "5024" "2748" "137368802" "137273638" "00006" "2016-01-10 06:13:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "01972" "HSNSP" "neuropathy, hereditary sensory, with spastic paraplegia" "AR" "256840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-03-03 14:56:24" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00056404" "" "" "" "122" "" "01164" "" "MGZ 99441" "F" "?" "Germany" "" "0" "" "" "german" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00056404" "01972" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01972 ## Count = 2 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000043033" "01972" "00056404" "01164" "Unknown" "45y" "progressive (painfull) demyelinisating polyneuropathy; starting at age 41y, (differentialdiagnosis: M. Fabry)" "41y" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000056364" "00056404" "1" "01164" "01164" "2015-12-21 13:03:58" "" "" "SEQ-NG-I" "DNA" "lymphocytes" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 20 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000086603" "3" "70" "5" "137354783" "137354784" "del" "0" "01164" "FAM13B_000001" "g.137354783_137354784del" "" "" "" "18_19del" "" "Germline" "?" "" "0" "" "" "g.138019094_138019095del" "" "likely pathogenic" "" "0000251343" "0" "10" "5" "137221914" "137221914" "subst" "0.00120489" "02326" "MYOT_000034" "g.137221914A>G" "" "" "" "MYOT(NM_006790.2):c.1190+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137886225A>G" "" "benign" "" "0000299871" "0" "30" "5" "137222978" "137222978" "subst" "0.000251787" "02326" "MYOT_000035" "g.137222978T>C" "" "" "" "MYOT(NM_006790.2):c.1401T>C (p.N467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137887289T>C" "" "likely benign" "" "0000305745" "0" "30" "5" "137241887" "137241887" "subst" "0.000192883" "01943" "PKD2L2_000001" "g.137241887T>C" "" "" "" "PKD2L2(NM_001258449.1):c.747-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137906198T>C" "" "likely benign" "" "0000524260" "0" "50" "5" "137221871" "137221871" "subst" "6.09335E-5" "01804" "MYOT_000054" "g.137221871G>A" "" "" "" "MYOT(NM_001135940.1):c.607G>A (p.(Glu203Lys)), MYOT(NM_006790.2):c.1159G>A (p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137886182G>A" "" "VUS" "" "0000524261" "0" "50" "5" "137275968" "137275968" "subst" "8.93909E-5" "01943" "FAM13B_000002" "g.137275968C>G" "" "" "" "FAM13B(NM_016603.3):c.2694G>C (p.K898N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137940279C>G" "" "VUS" "" "0000524263" "0" "30" "5" "137278733" "137278733" "subst" "0.00604816" "01804" "FAM13B_000003" "g.137278733A>C" "" "" "" "FAM13B(NM_001101800.1):c.2275-6T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137943044A>C" "" "likely benign" "" "0000524264" "0" "50" "5" "137347497" "137347497" "subst" "0" "01943" "FAM13B_000004" "g.137347497C>T" "" "" "" "FAM13B(NM_016603.3):c.508G>A (p.A170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138011808C>T" "" "VUS" "" "0000524265" "0" "50" "5" "137354665" "137354665" "subst" "0.00142991" "01804" "FAM13B_000005" "g.137354665C>T" "" "" "" "FAM13B(NM_001101800.1):c.136G>A (p.(Val46Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138018976C>T" "" "VUS" "" "0000609500" "0" "30" "5" "137226177" "137226177" "subst" "0" "01943" "MYOT_000066" "g.137226177G>A" "" "" "" "PKD2L2(NM_001258449.1):c.39G>A (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137890488G>A" "" "likely benign" "" "0000621477" "0" "30" "5" "137222978" "137222978" "subst" "0.000251787" "01943" "MYOT_000035" "g.137222978T>C" "" "" "" "MYOT(NM_006790.2):c.1401T>C (p.N467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137887289T>C" "" "likely benign" "" "0000677400" "0" "50" "5" "137221896" "137221896" "subst" "0" "02326" "MYOT_000072" "g.137221896G>A" "" "" "" "MYOT(NM_006790.2):c.1184G>A (p.R395Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677401" "0" "30" "5" "137222898" "137222898" "subst" "6.49894E-5" "02326" "MYOT_000073" "g.137222898T>A" "" "" "" "MYOT(NM_006790.2):c.1325-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720187" "0" "50" "5" "137221871" "137221871" "subst" "6.09335E-5" "02329" "MYOT_000054" "g.137221871G>A" "" "" "" "MYOT(NM_001135940.1):c.607G>A (p.(Glu203Lys)), MYOT(NM_006790.2):c.1159G>A (p.E387K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720188" "0" "30" "5" "137221909" "137221909" "subst" "0.000752651" "02326" "MYOT_000027" "g.137221909T>C" "" "" "" "MYOT(NM_006790.2):c.1190+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720189" "0" "50" "5" "137222990" "137222990" "subst" "2.43683E-5" "02329" "MYOT_000017" "g.137222990G>T" "" "" "" "MYOT(NM_006790.2):c.1413G>T (p.L471F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859768" "0" "30" "5" "137222546" "137222546" "subst" "0" "01804" "MYOT_000078" "g.137222546A>C" "" "" "" "MYOT(NM_001135940.1):c.639-7A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886611" "0" "50" "5" "137222978" "137222978" "subst" "0.000142138" "02329" "MYOT_000049" "g.137222978T>A" "" "" "" "MYOT(NM_006790.2):c.1401T>A (p.N467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052107" "0" "50" "5" "137226266" "137226266" "subst" "0.000544465" "01804" "MYOT_000081" "g.137226266G>A" "" "" "" "PKD2L2(NM_001300921.2):c.128G>A (p.(Cys43Tyr))" "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 FAM13B ## Count = 20 "{{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}}" "0000079500" "00024095" "00" "-8349017" "0" "8388607" "0" "c.-8349017_*13447390dup" "" "" "" "0000086603" "00024095" "70" "19" "0" "20" "0" "c.19_20del" "r.(?)" "p.(Pro7Phefs*4)" "1" "0000251343" "00024095" "10" "56748" "0" "56748" "0" "c.*54000T>C" "r.(=)" "p.(=)" "" "0000299871" "00024095" "30" "55684" "0" "55684" "0" "c.*52936A>G" "r.(=)" "p.(=)" "" "0000305745" "00024095" "30" "36775" "0" "36775" "0" "c.*34027A>G" "r.(=)" "p.(=)" "" "0000524260" "00024095" "50" "56791" "0" "56791" "0" "c.*54043C>T" "r.(=)" "p.(=)" "" "0000524261" "00024095" "50" "2694" "0" "2694" "0" "c.2694G>C" "r.(?)" "p.(Lys898Asn)" "" "0000524263" "00024095" "30" "2359" "-6" "2359" "-6" "c.2359-6T>G" "r.(=)" "p.(=)" "" "0000524264" "00024095" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Ala170Thr)" "" "0000524265" "00024095" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Val46Met)" "" "0000609500" "00024095" "30" "52485" "0" "52485" "0" "c.*49737C>T" "r.(=)" "p.(=)" "" "0000621477" "00024095" "30" "55684" "0" "55684" "0" "c.*52936A>G" "r.(=)" "p.(=)" "" "0000677400" "00024095" "50" "56766" "0" "56766" "0" "c.*54018C>T" "r.(=)" "p.(=)" "" "0000677401" "00024095" "30" "55764" "0" "55764" "0" "c.*53016A>T" "r.(=)" "p.(=)" "" "0000720187" "00024095" "50" "56791" "0" "56791" "0" "c.*54043C>T" "r.(=)" "p.(=)" "" "0000720188" "00024095" "30" "56753" "0" "56753" "0" "c.*54005A>G" "r.(=)" "p.(=)" "" "0000720189" "00024095" "50" "55672" "0" "55672" "0" "c.*52924C>A" "r.(=)" "p.(=)" "" "0000859768" "00024095" "30" "56116" "0" "56116" "0" "c.*53368T>G" "r.(=)" "p.(=)" "" "0000886611" "00024095" "50" "55684" "0" "55684" "0" "c.*52936A>T" "r.(=)" "p.(=)" "" "0001052107" "00024095" "50" "52396" "0" "52396" "0" "c.*49648C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000056364" "0000086603"