### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF3B) # 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}}" "KIF3B" "kinesin family member 3B" "20" "q11.21" "unknown" "NC_000020.10" "UD_132462976765" "" "https://www.LOVD.nl/KIF3B" "" "1" "6320" "9371" "603754" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KIF3B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-18 13:49:01" "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}}" "00010580" "KIF3B" "kinesin family member 3B" "001" "NM_004798.3" "" "NP_004789.1" "" "" "" "-180" "5936" "2244" "30865454" "30922814" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06966" "RP89" "retinitis pigmentosa, type 89" "AD" "618955" "" "" "" "00006" "2022-09-18 13:49:48" "00006" "2022-09-18 13:50:17" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KIF3B" "00112" "KIF3B" "04214" "KIF3B" "06966" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00301199" "" "" "" "1" "" "00006" "{PMID:Cogné 2020:32386558}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "FamAPatII1" "00301200" "" "" "" "19" "" "00006" "{PMID:Cogné 2020:32386558}" "6-generation family, 19 affected 10(F, 9M)" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamBPatIV1" "00301201" "" "" "00301200" "1" "" "00006" "{PMID:Cogné 2020:32386558}" "" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamBPatIV3" "00301202" "" "" "00301200" "1" "" "00006" "{PMID:Cogné 2020:32386558}" "" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamBPatV4" "00301203" "" "" "00301200" "1" "" "00006" "{PMID:Cogné 2020:32386558}" "" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamBPatVI2" "00301204" "" "" "00301200" "1" "" "00006" "{PMID:Cogné 2020:32386558}" "" "M" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamBPatIVI1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00301199" "00198" "00301200" "04214" "00301201" "04214" "00301202" "04214" "00301203" "04214" "00301204" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 04214, 06966 ## Count = 6 "{{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}}" "0000228468" "00198" "00301199" "00006" "Isolated (sporadic)" "5y" "retinitis pigmentosa, hepatic fibrosis, postaxial hexadactyly both hands and right foot, bicuspid aortic valve, normal kidney" "" "5y" "" "" "" "" "" "" "" "hepatic fibrosis, retinitis pigmentosa, postaxial polydactyly" "" "0000228469" "04214" "00301200" "00006" "Familial, autosomal dominant" "50y" "retinitis pigmentosa, visual field 10;10, no hepatic fibrosis, no skeletal malformations, normal heart, normal kidney" "" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228470" "04214" "00301201" "00006" "Familial, autosomal dominant" "55y" "retinitis pigmentosa, visual field 20;22, no hepatic fibrosis, no skeletal malformations, normal heart, normal kidney" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228471" "04214" "00301202" "00006" "Familial, autosomal dominant" "52y" "retinitis pigmentosa, no hepatic fibrosis, no skeletal malformations (postaxial hexadacty mother/brother), normal heart, normal kidney" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228472" "04214" "00301203" "00006" "Familial, autosomal dominant" "23y" "retinitis pigmentosa, visual field 20UU, no hepatic fibrosis, no skeletal malformations, normal heart, normal kidney" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228473" "04214" "00301204" "00006" "Familial, autosomal dominant" "21y" "retinitis pigmentosa, constricted central vision, severe symptoms, no hepatic fibrosis, no skeletal malformations, normal heart, kidney issues (dialysis)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302322" "00301199" "1" "00006" "00006" "2020-05-08 19:14:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302323" "00301200" "1" "00006" "00006" "2020-05-08 19:14:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302324" "00301201" "1" "00006" "00006" "2020-05-08 19:14:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302325" "00301202" "1" "00006" "00006" "2020-05-08 19:14:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302326" "00301203" "1" "00006" "00006" "2020-05-08 19:14:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302327" "00301204" "1" "00006" "00006" "2020-05-08 19:14:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000302322" "KIF3B" "0000302323" "KIF3B" "0000302324" "KIF3B" "0000302325" "KIF3B" "0000302326" "KIF3B" "0000302327" "KIF3B" ## 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 = 15 "{{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}}" "0000665539" "1" "90" "20" "30898328" "30898328" "subst" "0" "00006" "KIF3B_000002" "g.30898328G>C" "" "{PMID:Cogné 2020:32386558}" "" "" "" "De novo" "" "" "0" "" "" "g.32310525G>C" "" "pathogenic (dominant)" "" "0000665540" "1" "90" "20" "30904392" "30904392" "subst" "0" "00006" "KIF3B_000003" "g.30904392T>C" "" "{PMID:Cogné 2020:32386558}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32316589T>C" "" "pathogenic (dominant)" "" "0000665541" "1" "90" "20" "30904392" "30904392" "subst" "0" "00006" "KIF3B_000003" "g.30904392T>C" "" "{PMID:Cogné 2020:32386558}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32316589T>C" "" "pathogenic (dominant)" "" "0000665542" "1" "90" "20" "30904392" "30904392" "subst" "0" "00006" "KIF3B_000003" "g.30904392T>C" "" "{PMID:Cogné 2020:32386558}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32316589T>C" "" "pathogenic (dominant)" "" "0000665543" "1" "90" "20" "30904392" "30904392" "subst" "0" "00006" "KIF3B_000003" "g.30904392T>C" "" "{PMID:Cogné 2020:32386558}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32316589T>C" "" "pathogenic (dominant)" "" "0000665544" "1" "90" "20" "30904392" "30904392" "subst" "0" "00006" "KIF3B_000003" "g.30904392T>C" "" "{PMID:Cogné 2020:32386558}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32316589T>C" "" "pathogenic (dominant)" "" "0000855788" "0" "30" "20" "30904388" "30904388" "subst" "1.22015E-5" "01943" "KIF3B_000004" "g.30904388A>G" "" "" "" "KIF3B(NM_004798.4):c.1565A>G (p.E522G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895255" "0" "30" "20" "30918081" "30918081" "subst" "0.00170054" "02326" "KIF3B_000005" "g.30918081A>G" "" "" "" "KIF3B(NM_004798.4):c.2106A>G (p.A702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926981" "0" "50" "20" "30898689" "30898689" "subst" "4.06931E-6" "02327" "KIF3B_000006" "g.30898689A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926982" "0" "50" "20" "30919048" "30919048" "subst" "4.07302E-6" "02327" "KIF3B_000007" "g.30919048G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005317" "0" "30" "20" "30897660" "30897660" "subst" "8.12209E-6" "01804" "KIF3B_000009" "g.30897660C>T" "" "" "" "KIF3B(NM_004798.3):c.80C>T (p.(Ser27Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005318" "0" "30" "20" "30897726" "30897726" "subst" "1.21849E-5" "01804" "KIF3B_000010" "g.30897726C>T" "" "" "" "KIF3B(NM_004798.3):c.146C>T (p.(Thr49Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015854" "0" "30" "20" "30898883" "30898883" "subst" "0.000801517" "02325" "KIF3B_000011" "g.30898883G>A" "" "" "" "KIF3B(NM_004798.4):c.1303G>A (p.V435I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043297" "0" "30" "20" "30915351" "30915351" "subst" "0.000171252" "01804" "KIF3B_000012" "g.30915351A>C" "" "" "" "KIF3B(NM_004798.4):c.1863-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056867" "0" "30" "20" "30898131" "30898131" "subst" "7.75592E-5" "01804" "KIF3B_000013" "g.30898131C>T" "" "" "" "KIF3B(NM_004798.4):c.551C>T (p.(Thr184Ile))" "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 KIF3B ## Count = 15 "{{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}}" "0000665539" "00010580" "90" "748" "0" "748" "0" "c.748G>C" "r.(?)" "p.(Glu250Gln)" "" "0000665540" "00010580" "90" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(Leu523Pro)" "" "0000665541" "00010580" "90" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(Leu523Pro)" "" "0000665542" "00010580" "90" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(Leu523Pro)" "" "0000665543" "00010580" "90" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(Leu523Pro)" "" "0000665544" "00010580" "90" "1569" "0" "1569" "0" "c.1569T>C" "r.(?)" "p.(Leu523Pro)" "" "0000855788" "00010580" "30" "1565" "0" "1565" "0" "c.1565A>G" "r.(?)" "p.(Glu522Gly)" "" "0000895255" "00010580" "30" "2106" "0" "2106" "0" "c.2106A>G" "r.(?)" "p.(Ala702=)" "" "0000926981" "00010580" "50" "1109" "0" "1109" "0" "c.1109A>T" "r.(?)" "p.(Glu370Val)" "" "0000926982" "00010580" "50" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Gly724Arg)" "" "0001005317" "00010580" "30" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Leu)" "" "0001005318" "00010580" "30" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Thr49Met)" "" "0001015854" "00010580" "30" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Val435Ile)" "" "0001043297" "00010580" "30" "1863" "-8" "1863" "-8" "c.1863-8A>C" "r.(=)" "p.(=)" "" "0001056867" "00010580" "30" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Thr184Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000302322" "0000665539" "0000302323" "0000665540" "0000302324" "0000665541" "0000302325" "0000665542" "0000302326" "0000665543" "0000302327" "0000665544"