### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KLHL3) # 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}}" "KLHL3" "kelch-like 3 (Drosophila)" "5" "q31" "unknown" "NG_032569.1" "UD_132610739533" "" "https://www.LOVD.nl/KLHL3" "" "1" "6354" "26249" "605775" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/KLHL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-21 00:00:00" "00006" "2017-07-04 20:45:23" "00006" "2025-05-14 10:01:44" ## 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}}" "00001807" "KLHL3" "kelch-like 3 (Drosophila)" "001" "NM_017415.2" "" "NP_059111.2" "" "" "" "-444" "6362" "1764" "137071779" "136953189" "00001" "2013-04-24 16:45:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03668" "PHA2D" "pseudohypoaldosteronism type 2D (PHA-2D)" "AD;AR" "614495" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KLHL3" "03668" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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" "" "" "" "00293748" "" "" "" "92" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305010" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00422293" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 298, individual II:1" "M" "" "China" "" "0" "" "" "Chinese" "298_II:1" "00422294" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "mother, family 298, individual I:2" "F" "" "China" "" "0" "" "" "Chinese" "298_I:2" "00451678" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465311" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00293748" "00198" "00305010" "00198" "00422293" "04214" "00422294" "04214" "00451678" "00198" "00465311" "03668" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03668, 04214 ## Count = 5 "{{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" "" "" "" "" "" "" "" "" "" "" "" "0000313497" "04214" "00422293" "00000" "Familial, autosomal dominant" "6y" "ocular findings right/left eye: best corrected visual acuity right/left eye: 0.8/light perception; vessels exudates; straightening of/ rhegmatogenous retinal detachment; other findings: none" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000313498" "04214" "00422294" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000340338" "00198" "00451678" "03544" "Isolated (sporadic)" "" "HP:0004319, HP:0002153, HP:0002902, HP:0001941, HP:0004322" "" "" "" "" "" "" "" "" "PHA2D" "hypoaldosteronism" "" "0000350864" "03668" "00465311" "03544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "PHA2D" "pseudohypoaldosteronism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{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" "" "" "0000294916" "00293748" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306139" "00305010" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000423604" "00422293" "1" "00000" "03840" "2022-11-09 14:56:18" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000423605" "00422294" "1" "00000" "03840" "2022-11-09 14:56:18" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000453282" "00451678" "1" "03544" "03544" "2024-06-28 09:45:59" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000466959" "00465311" "1" "03544" "03544" "2025-05-10 17:04:08" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000423604" "KIF11" "0000423605" "KIF11" ## 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 = 25 "{{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" "" "0000340628" "0" "10" "5" "137028029" "137028029" "subst" "0.791909" "02327" "KLHL3_000004" "g.137028029T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137692340T>C" "" "benign" "" "0000340763" "0" "10" "5" "136969793" "136969793" "subst" "0.221588" "02327" "KLHL3_000003" "g.136969793C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137634104C>T" "" "benign" "" "0000341470" "0" "70" "5" "136964097" "136964097" "subst" "0" "02327" "KLHL3_000001" "g.136964097C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137628408C>A" "" "likely pathogenic" "" "0000342967" "0" "50" "5" "136969737" "136969737" "subst" "8.12916E-6" "02327" "KLHL3_000002" "g.136969737C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137634048C>T" "" "VUS" "" "0000524236" "0" "30" "5" "136993942" "136993942" "subst" "0" "01804" "KLHL3_000005" "g.136993942T>C" "" "" "" "KLHL3(NM_001257194.1):c.685A>G (p.(Asn229Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137658253T>C" "" "likely benign" "" "0000524241" "0" "50" "5" "137034007" "137034007" "subst" "0" "02327" "KLHL3_000007" "g.137034007G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137698318G>A" "" "VUS" "" "0000651605" "1" "10" "5" "136961566" "136961566" "subst" "0.0485149" "03575" "KLHL3_000008" "g.136961566C>A" "92/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "92 heterozygous; {DB:CLININrs17171525}" "Germline" "" "rs17171525" "0" "" "" "g.137625877C>A" "" "benign" "" "0000669827" "3" "10" "5" "136961566" "136961566" "subst" "0.0485149" "03575" "KLHL3_000008" "g.136961566C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17171525}" "Germline" "" "rs17171525" "0" "" "" "g.137625877C>A" "" "benign" "" "0000801900" "0" "90" "5" "136974705" "136974705" "subst" "0" "02327" "KLHL3_000009" "g.136974705T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850783" "0" "90" "5" "136963994" "136963994" "subst" "0" "02327" "KLHL3_000010" "g.136963994C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850784" "0" "30" "5" "137013364" "137013364" "dup" "0" "02326" "KLHL3_000011" "g.137013364dup" "" "" "" "KLHL3(NM_017415.3):c.527-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886607" "0" "30" "5" "136975544" "136975544" "subst" "9.75745E-5" "02326" "KLHL3_000012" "g.136975544C>T" "" "" "" "KLHL3(NM_017415.3):c.1021+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886608" "0" "30" "5" "136975671" "136975671" "subst" "0.000121886" "02326" "KLHL3_000013" "g.136975671G>A" "" "" "" "KLHL3(NM_017415.3):c.904-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886609" "0" "30" "5" "136993804" "136993804" "subst" "0.000185443" "02326" "KLHL3_000014" "g.136993804T>C" "" "" "" "KLHL3(NM_017415.3):c.903+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000899350" "0" "70" "10" "94373338" "94373338" "subst" "1.62729E-5" "00000" "KIF11_000162" "g.94373338A>G" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.994A>G, p.(Ile332Val)" "heterozygous; also affected mother" "Germline" "yes" "" "0" "" "" "g.92613581A>G" "" "likely pathogenic" "" "0000899351" "0" "70" "10" "94373338" "94373338" "subst" "1.62729E-5" "00000" "KIF11_000162" "g.94373338A>G" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.994A>G, p.(Ile332Val)" "heterozygous; also affected mother" "Germline" "yes" "" "0" "" "" "g.92613581A>G" "" "likely pathogenic" "" "0000924244" "0" "30" "5" "136993885" "136993885" "subst" "0.00253098" "02326" "KLHL3_000015" "g.136993885G>A" "" "" "" "KLHL3(NM_017415.3):c.838C>T (p.L280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929013" "0" "30" "5" "136972963" "136972963" "subst" "0.0013608" "02326" "KLHL3_000016" "g.136972963G>A" "" "" "" "KLHL3(NM_017415.3):c.1321+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948477" "0" "30" "5" "136973096" "136973096" "subst" "0.000121976" "02326" "KLHL3_000017" "g.136973096G>A" "" "" "" "KLHL3(NM_017415.3):c.1220-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948478" "0" "30" "5" "137013243" "137013243" "subst" "0.000614135" "02326" "KLHL3_000018" "g.137013243T>C" "" "" "" "KLHL3(NM_017415.3):c.627A>G (p.S209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976552" "0" "30" "5" "137013230" "137013230" "subst" "0" "02325" "KLHL3_000019" "g.137013230A>T" "" "" "" "KLHL3(NM_017415.3):c.636+4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987859" "21" "70" "5" "136973075" "136973075" "subst" "0" "03544" "KLHL3_000020" "g.136973075G>A" "" "" "" "" "" "Germline" "yes" "rs199469641" "0" "" "" "g.137637386G>A" "30517" "pathogenic" "ACMG" "0000987860" "10" "70" "5" "136993896" "136993896" "subst" "0" "03544" "KLHL3_000021" "g.136993896T>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.137658207T>C" "" "likely pathogenic" "ACMG" "0001044607" "3" "70" "5" "136997638" "136997638" "subst" "0" "03544" "KLHL3_000022" "g.136997638C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.137661949C>T" "" "likely 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 KLHL3 ## Count = 25 "{{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" "00001807" "00" "-8388608" "0" "8388607" "0" "c.-8645950_*13129263dup" "" "" "" "0000340628" "00001807" "10" "471" "0" "471" "0" "c.471A>G" "r.(?)" "p.(Ala157=)" "" "0000340763" "00001807" "10" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Glu461=)" "" "0000341470" "00001807" "70" "1480" "0" "1480" "0" "c.1480G>T" "r.(?)" "p.(Ala494Ser)" "" "0000342967" "00001807" "50" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" "" "0000524236" "00001807" "30" "781" "0" "781" "0" "c.781A>G" "r.(?)" "p.(Asn261Asp)" "" "0000524241" "00001807" "50" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Ala111Val)" "" "0000651605" "00001807" "10" "1611" "0" "1611" "0" "c.1611G>T" "r.(=)" "p.(=)" "" "0000669827" "00001807" "10" "1611" "0" "1611" "0" "c.1611G>T" "r.(=)" "p.(=)" "" "0000801900" "00001807" "90" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Thr386Ala)" "" "0000850783" "00001807" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000850784" "00001807" "30" "527" "-8" "527" "-8" "c.527-8dup" "r.(=)" "p.(=)" "" "0000886607" "00001807" "30" "1021" "5" "1021" "5" "c.1021+5G>A" "r.spl?" "p.?" "" "0000886608" "00001807" "30" "904" "-5" "904" "-5" "c.904-5C>T" "r.spl?" "p.?" "" "0000886609" "00001807" "30" "903" "16" "903" "16" "c.903+16A>G" "r.(=)" "p.(=)" "" "0000899350" "00001807" "70" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Ile332Val)" "" "0000899351" "00001807" "70" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Ile332Val)" "" "0000924244" "00001807" "30" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Leu280=)" "" "0000929013" "00001807" "30" "1321" "20" "1321" "20" "c.1321+20C>T" "r.(=)" "p.(=)" "" "0000948477" "00001807" "30" "1220" "-12" "1220" "-12" "c.1220-12C>T" "r.(=)" "p.(=)" "" "0000948478" "00001807" "30" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(=)" "" "0000976552" "00001807" "30" "636" "4" "636" "4" "c.636+4T>A" "r.spl?" "p.?" "" "0000987859" "00001807" "70" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Ser410Leu)" "11" "0000987860" "00001807" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(His276Arg)" "8" "0001044607" "00001807" "70" "719" "0" "719" "0" "c.719G>A" "r.(719G>A)" "p.(Arg240Gln)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000294916" "0000651605" "0000306139" "0000669827" "0000423604" "0000899350" "0000423605" "0000899351" "0000453282" "0000987859" "0000453282" "0000987860" "0000466959" "0001044607"