### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKD2L2) # 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}}" "PKD2L2" "polycystic kidney disease 2-like 2" "5" "q31" "unknown" "NC_000005.9" "UD_132610742817" "" "https://www.LOVD.nl/PKD2L2" "" "1" "9012" "27039" "604669" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-28 19:26:39" "00000" "2024-08-28 13:16:32" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016238" "PKD2L2" "polycystic kidney disease 2-like 2" "001" "NM_014386.2" "" "NP_055201.2" "" "" "" "-56" "2162" "1842" "137225125" "137276156" "" "0000-00-00 00:00:00" "" "" "00025931" "PKD2L2" "transcript variant 4 (removed from reference sequence) (removed from reference sequence) (removed from reference sequence)" "000" "NM_001300921.1" "" "NP_001287850.1" "" "" "RefSeq select" "-56" "2256" "1875" "1" "1" "00006" "2024-05-28 19:25:34" "" "" ## 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" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" ## 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" "" "" "" "00450484" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "M" "" "" "" "0" "" "" "" "F112.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00450484" "05106" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05106 ## 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" "" "" "" "" "" "" "" "" "" "" "" "0000339547" "05106" "00450484" "00006" "Isolated (sporadic)" "" "adult-onset distal myopathy" "" "" "" "" "" "" "" "" "MFM3" "adult-onset distal myopathy" "" ## 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" "" "" "0000452082" "00450484" "1" "00006" "00006" "2024-05-28 19:19:43" "" "" "SEQ;SEQ-NG;SEQ-PB" "DNA" "" "gene panel, WGS" ## 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 = 19 "{{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" "" "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" "" "0000986035" "0" "70" "5" "137167985" "137232892" "dup" "0" "00006" "MYOT_000079" "g.137167985_137232892dup" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "hg38 chr5:137,832,296-137,897,203dup" "65kb duplication" "De novo" "" "" "0" "" "" "g.137832296_137897203dup" "" "likely pathogenic (dominant)" "" ## 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 PKD2L2 ## Count = 33 "{{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" "00016238" "00" "-8388608" "0" "8388607" "0" "c.-13396657_*8441449dup" "" "" "" "0000251343" "00025931" "10" "-3267" "0" "-3267" "0" "c.-3267A>G" "r.(?)" "p.(=)" "" "0000251343" "00016238" "10" "-3267" "0" "-3267" "0" "c.-3267A>G" "r.(?)" "p.(=)" "" "0000299871" "00025931" "30" "-2203" "0" "-2203" "0" "c.-2203T>C" "r.(?)" "p.(=)" "" "0000299871" "00016238" "30" "-2203" "0" "-2203" "0" "c.-2203T>C" "r.(?)" "p.(=)" "" "0000305745" "00025931" "30" "747" "-8" "747" "-8" "c.747-8T>C" "r.(=)" "p.(=)" "" "0000305745" "00016238" "30" "747" "-8" "747" "-8" "c.747-8T>C" "r.(=)" "p.(=)" "" "0000524260" "00025931" "50" "-3310" "0" "-3310" "0" "c.-3310G>A" "r.(?)" "p.(=)" "" "0000524260" "00016238" "50" "-3310" "0" "-3310" "0" "c.-3310G>A" "r.(?)" "p.(=)" "" "0000524261" "00025931" "50" "1893" "-2105" "1893" "-2105" "c.*18-2105C>G" "r.(=)" "p.(=)" "" "0000524261" "00016238" "50" "1974" "0" "1974" "0" "c.*132C>G" "r.(=)" "p.(=)" "" "0000524263" "00025931" "30" "2553" "0" "2553" "0" "c.*678A>C" "r.(=)" "p.(=)" "" "0000524263" "00016238" "30" "4739" "0" "4739" "0" "c.*2897A>C" "r.(=)" "p.(=)" "" "0000524264" "00025931" "50" "71317" "0" "71317" "0" "c.*69442C>T" "r.(=)" "p.(=)" "" "0000524265" "00025931" "50" "78485" "0" "78485" "0" "c.*76610C>T" "r.(=)" "p.(=)" "" "0000609500" "00025931" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Ser13=)" "" "0000609500" "00016238" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Ser13=)" "" "0000621477" "00025931" "30" "-2203" "0" "-2203" "0" "c.-2203T>C" "r.(?)" "p.(=)" "" "0000621477" "00016238" "30" "-2203" "0" "-2203" "0" "c.-2203T>C" "r.(?)" "p.(=)" "" "0000677400" "00025931" "50" "-3285" "0" "-3285" "0" "c.-3285G>A" "r.(?)" "p.(=)" "" "0000677400" "00016238" "50" "-3285" "0" "-3285" "0" "c.-3285G>A" "r.(?)" "p.(=)" "" "0000677401" "00025931" "30" "-2283" "0" "-2283" "0" "c.-2283T>A" "r.(?)" "p.(=)" "" "0000677401" "00016238" "30" "-2283" "0" "-2283" "0" "c.-2283T>A" "r.(?)" "p.(=)" "" "0000720187" "00025931" "50" "-3310" "0" "-3310" "0" "c.-3310G>A" "r.(?)" "p.(=)" "" "0000720187" "00016238" "50" "-3310" "0" "-3310" "0" "c.-3310G>A" "r.(?)" "p.(=)" "" "0000720188" "00025931" "30" "-3272" "0" "-3272" "0" "c.-3272T>C" "r.(?)" "p.(=)" "" "0000720188" "00016238" "30" "-3272" "0" "-3272" "0" "c.-3272T>C" "r.(?)" "p.(=)" "" "0000720189" "00025931" "50" "-2191" "0" "-2191" "0" "c.-2191G>T" "r.(?)" "p.(=)" "" "0000720189" "00016238" "50" "-2191" "0" "-2191" "0" "c.-2191G>T" "r.(?)" "p.(=)" "" "0000859768" "00025931" "30" "-2635" "0" "-2635" "0" "c.-2635A>C" "r.(?)" "p.(=)" "" "0000886611" "00025931" "50" "-2203" "0" "-2203" "0" "c.-2203T>A" "r.(?)" "p.(=)" "" "0000986035" "00025931" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000986035" "00016238" "50" "0" "0" "0" "0" "c.-56_525-2313{2}" "r.?" "p.?" "_1_4i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000452082" "0000986035"