### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF5B) # 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}}" "KIF5B" "kinesin family member 5B" "10" "p11.22" "unknown" "NC_000010.10" "UD_132319312376" "" "https://www.LOVD.nl/KIF5B" "" "1" "6324" "3799" "602809" "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/KIF5B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-31 15:10:36" "00006" "2025-10-30 10:25:04" ## 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}}" "00010585" "KIF5B" "kinesin family member 5B" "001" "NM_004521.2" "" "NP_004512.1" "" "" "" "-470" "5419" "2892" "32345371" "32297938" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIF5B" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00398645" "" "" "" "1" "" "03677" "{PMID:Itai 2022:35342932}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00398646" "" "" "" "1" "" "03677" "{PMID:Itai 2022:35342932}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00398647" "" "" "" "1" "" "03677" "{PMID:Itai 2022:35342932}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat3" "00398648" "" "" "" "1" "" "03677" "{PMID:Itai 2022:35342932}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat4" "00464598" "" "" "" "1" "" "00006" "{PMID:Marom 2023:37934770}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00464599" "" "" "" "1" "" "00006" "{PMID:Marom 2023:37934770}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00464600" "" "" "" "1" "" "00006" "{PMID:Marom 2023:37934770}" "2-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents" "F" "" "" "<0d" "0" "" "" "" "Pat3" "00464601" "" "" "" "1" "" "00006" "{PMID:Marom 2023:37934770}" "3-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents" "M" "" "" "<0d" "0" "" "" "" "Pat4" "00464602" "" "" "" "1" "" "00006" "{PMID:Flex 2023:36018820}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Italy" "" "0" "" "" "" "Pat1" "00464603" "" "" "" "1" "" "00006" "{PMID:Flex 2023:36018820}" "2-generation family, affected son/father" "M" "" "" "" "0" "" "" "" "Pat2" "00464604" "" "" "" "1" "" "00006" "{PMID:Flex 2023:36018820}" "2-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "Pat3" "00467796" "" "" "" "2" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam015PatBAB6712" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00398645" "06887" "00398646" "06887" "00398647" "06887" "00398648" "06887" "00464598" "05296" "00464599" "05296" "00464600" "05296" "00464601" "05296" "00464602" "05611" "00464603" "00198" "00464604" "00198" "00467796" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05296, 05611, 06887 ## Count = 12 "{{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}}" "0000299775" "06887" "00398645" "03677" "Isolated (sporadic)" "" "see paper; ..., no intellectual disability; no developmental delay; no neurological symptoms; conductive hearing impairment, hyperopia; respiratory disorders in neonatal period; joint contracture knee/hip; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; cleft palate; intermittent esotopia; no brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; no platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis" "" "" "" "" "" "" "" "" "" "kyphomelic dysplasia" "" "0000299776" "06887" "00398646" "03677" "Isolated (sporadic)" "" "see paper; ..., no intellectual disability; no developmental delay; febrile seizures, epilepsy; velopharyngeal insufficiency, astigmatism; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; no bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; no micrognathia; no small mouth with thin upper lip; no cleft palate; no intermittent esotopia; narrow thorax; no hooked clavicles; no short, wavy ribs; no anteriorly cupped ribs; no platyspondyly; kyphoscoliosis; no large pedicles; iliac flaring; no horizontal acetabular roof; limbs humeral bowing, no radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; no postnatal osteoporosis" "" "" "" "" "" "" "" "" "" "kyphomelic dysplasia" "" "0000299777" "06887" "00398647" "03677" "Isolated (sporadic)" "" "see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; glossoptosis; respiratory disorders in neonatal period; no joint contracture; no talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, bone spur, metaphyseal broadening, no pterygia, stippled epiphysis, fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis" "" "" "" "" "" "" "" "" "" "kyphomelic dysplasia" "" "0000299778" "06887" "00398648" "03677" "Isolated (sporadic)" "" "see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; tracheomalacia; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; no anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis" "" "" "" "" "" "" "" "" "" "Kyphomelic dysplasia" "" "0000350584" "05296" "00464598" "00006" "Isolated (sporadic)" "20y" "see paper; ..., 40w-birth, weight 1673g; 20y-height 134cm (Z -4.78), weight 28.2kg (Z -7.6), microcephaly (Z -3.12); osteopenia; multiple fractures; bone deformities; scoliosis; dentinogenesis imperfecta, hypodontia, malocclusion; bilateral mild to moderate mixed hearing loss; restrictive lung disease (small chest); midface retrusion, malar flattening, shallow orbits, mandibular prognathia; moderate secundum, atrial septal defect; drooping eyelids (Lt>Rt); bilateral lagophthalmos, hyperopia; delayed puberty; mild developmental delay (gross motor>fine>speech), normal cognitive function" "" "" "" "" "" "" "" "" "OI" "hypomineralization bones, multiple fractures, skeletal deformities" "" "0000350585" "05296" "00464599" "00006" "Isolated (sporadic)" "30y" "see paper; ..., 38w-birth, weight 2353g; prenatal oligohydramnios; ; 30y-height 91.4cm (Z -10.8), weight 27.2kg (Z -9.2), no microcephaly; osteopenia; multiple fractures; bone deformities; scoliosis; dentinogenesis imperfecta; bilateral moderate to severe mixed hearing loss; restrictive lung disease (small chest); relative macrocephaly, triangular shaped facies, proptosis, downslanting palpebral fissures, mildly low-set ears; no congenital heart defect; blue sclera, drooping eye lids; normal puberty; normal cognitive function" "" "" "" "" "" "" "" "" "OI" "hypomineralization bones, multiple fractures, skeletal deformities" "" "0000350586" "05296" "00464600" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., 23w+2 pregnancy terminated, short long bones with bowed femurs, in utero fractures, no microcephaly; osteopenia; in utero bilateral fractures of femur, radius and ulna, and multiple rib fractures; bone deformities (angulation of humeri, right tibia and left fibula); no scoliosis; slightly reduced lung weight/body weight ratio, normal lung histology; low-set ears, micrognathia, high arched palate, flattened nares; no congenital heart defect" "" "" "" "" "" "" "" "" "OI" "hypomineralization bones, multiple fractures, skeletal deformities" "" "0000350587" "05296" "00464601" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., 20w pregnancy terminated, abnormal ribs, short long bones, small chest size, hypomineralisation, tetralogy of Fallot, absent pulmonary valve, absent ductus venosus, micrognathia, no microcephaly; osteopenia; no fractures; bent and short long bones, hypoplastic and unossified vertebrae and pelvic bones; no scoliosis; small chest; hypertelorism, low-set ears, flat nasal bridge; narrow pulmonary valve, dilated pulmonary artery branches, overriding aorta, absent ductus arteriosus" "" "" "" "" "" "" "" "" "OI" "hypomineralization bones, multiple fractures, skeletal deformities" "" "0000350589" "05611" "00464602" "00006" "Isolated (sporadic)" "9y" "see paper; ..." "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000350590" "00198" "00464603" "00006" "Familial, autosomal dominant" "67y" "see paper; ..." "" "" "" "" "" "" "" "" "" "aroxysmal atrial fibrillation" "" "0000350591" "00198" "00464604" "00006" "Isolated (sporadic)" "6y" "see paper; ..." "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000352949" "05611" "00467796" "00006" "Familial, autosomal recessive" "" "developmental delay, attention deficit hyperactivity disorder, seizures, brain atrophy, thin corpus callosum" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000408877" "00398645" "1" "03677" "03677" "2022-04-06 23:40:02" "" "" "SEQ-NG" "DNA" "" "" "0000408878" "00398646" "1" "03677" "03677" "2022-04-06 23:45:40" "" "" "SEQ-NG" "DNA" "" "" "0000408879" "00398647" "1" "03677" "03677" "2022-04-06 23:49:25" "" "" "?" "DNA" "" "" "0000408880" "00398648" "1" "03677" "03677" "2022-04-06 23:51:01" "" "" "?" "DNA" "" "" "0000466239" "00464598" "1" "00006" "00006" "2025-03-31 15:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466240" "00464599" "1" "00006" "00006" "2025-03-31 15:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466241" "00464600" "1" "00006" "00006" "2025-03-31 15:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466242" "00464601" "1" "00006" "00006" "2025-03-31 15:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466244" "00464602" "1" "00006" "00006" "2025-03-31 15:49:15" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466245" "00464603" "1" "00006" "00006" "2025-03-31 15:49:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466246" "00464604" "1" "00006" "00006" "2025-03-31 15:49:15" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469462" "00467796" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 23 "{{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}}" "0000321480" "0" "50" "10" "32326462" "32326462" "subst" "0" "01804" "KIF5B_000001" "g.32326462T>A" "" "" "" "KIF5B(NM_004521.2):c.572A>T (p.(His191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32037534T>A" "" "VUS" "" "0000845879" "0" "70" "10" "32326450" "32326450" "subst" "0" "03677" "KIF5B_000002" "g.32326450G>T" "" "{PMID:Itai 2022:35342932}" "" "" "" "De novo" "" "" "0" "" "" "g.32037522G>T" "" "likely pathogenic" "ACMG" "0000845880" "0" "70" "10" "32326192" "32326192" "subst" "0" "03677" "KIF5B_000003" "g.32326192C>A" "" "{PMID:Itai 2022:35342932}" "" "" "" "De novo" "" "" "0" "" "" "g.32037264C>A" "" "likely pathogenic" "ACMG" "0000845881" "0" "70" "10" "32329328" "32329328" "subst" "0" "03677" "KIF5B_000004" "g.32329328T>C" "" "{PMID:Itai 2022:35342932}" "" "" "" "De novo" "" "" "0" "" "" "g.32040400T>C" "" "likely pathogenic" "ACMG" "0000845882" "0" "70" "10" "32329328" "32329328" "subst" "0" "03677" "KIF5B_000004" "g.32329328T>C" "" "{PMID:Itai 2022:35342932}" "" "" "" "De novo" "" "" "0" "" "" "g.32040400T>C" "" "likely pathogenic" "ACMG" "0000979023" "0" "50" "10" "32311831" "32311831" "subst" "0" "01804" "KIF5B_000005" "g.32311831T>G" "" "" "" "KIF5B(NM_004521.3):c.1859A>C (p.(Lys620Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979024" "0" "30" "10" "32320002" "32320002" "subst" "0.00290036" "01804" "KIF5B_000006" "g.32320002G>A" "" "" "" "KIF5B(NM_004521.3):c.1580C>T (p.(Ser527Leu), p.S527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979025" "0" "50" "10" "32320126" "32320128" "del" "0" "01804" "KIF5B_000007" "g.32320126_32320128del" "" "" "" "KIF5B(NM_004521.3):c.1460_1462del (p.(Glu487del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979026" "0" "50" "10" "32337398" "32337398" "subst" "0" "01804" "KIF5B_000008" "g.32337398C>T" "" "" "" "KIF5B(NM_004521.3):c.208G>A (p.(Val70Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025738" "0" "30" "10" "32320002" "32320002" "subst" "0.00290036" "02329" "KIF5B_000006" "g.32320002G>A" "" "" "" "KIF5B(NM_004521.3):c.1580C>T (p.(Ser527Leu), p.S527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030141" "0" "90" "10" "32329340" "32329340" "subst" "0" "00006" "KIF5B_000013" "g.32329340G>A" "" "{PMID:Marom 2023:37934770}" "" "" "" "De novo" "" "" "0" "" "" "g.32040412G>A" "" "pathogenic (dominant)" "" "0001030142" "0" "90" "10" "32329340" "32329340" "subst" "0" "00006" "KIF5B_000013" "g.32329340G>A" "" "{PMID:Marom 2023:37934770}" "" "" "" "De novo" "" "" "0" "" "" "g.32040412G>A" "" "pathogenic (dominant)" "" "0001030143" "0" "90" "10" "32329331" "32329331" "subst" "0" "00006" "KIF5B_000012" "g.32329331C>G" "" "{PMID:Marom 2023:37934770}" "" "" "" "De novo" "" "" "0" "" "" "g.32040403C>G" "" "pathogenic (dominant)" "" "0001030144" "0" "90" "10" "32326450" "32326450" "subst" "0" "00006" "KIF5B_000002" "g.32326450G>T" "" "{PMID:Marom 2023:37934770}" "" "" "" "De novo" "" "" "0" "" "" "g.32037522G>T" "" "pathogenic (dominant)" "" "0001030145" "0" "90" "10" "32317471" "32317471" "subst" "0" "00006" "KIF5B_000009" "g.32317471A>G" "" "{PMID:Flex 2023:36018820}" "" "" "" "De novo" "" "" "0" "" "" "g.32028543A>G" "" "pathogenic (dominant)" "" "0001030146" "11" "90" "10" "32324870" "32324872" "del" "0" "00006" "KIF5B_000011" "g.32324870_32324872del" "" "{PMID:Flex 2023:36018820}" "" "765_767delCAA" "" "Germline" "" "" "0" "" "" "g.32035942_32035944del" "" "pathogenic (dominant)" "" "0001030147" "0" "90" "10" "32320089" "32320089" "subst" "0" "00006" "KIF5B_000010" "g.32320089A>G" "" "{PMID:Flex 2023:36018820}" "" "" "" "De novo" "" "" "0" "" "" "g.32031161A>G" "" "pathogenic (dominant)" "" "0001037887" "0" "30" "10" "32308786" "32308786" "subst" "0.000326726" "01804" "KIF5B_000014" "g.32308786G>A" "" "" "" "KIF5B(NM_004521.3):c.2306C>T (p.(Thr769Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037888" "0" "50" "10" "32322918" "32322918" "subst" "0" "01804" "KIF5B_000015" "g.32322918A>C" "" "" "" "KIF5B(NM_004521.3):c.1160T>G (p.(Leu387Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037889" "0" "30" "10" "32324926" "32324926" "subst" "6.60895E-5" "01804" "KIF5B_000016" "g.32324926T>C" "" "" "" "KIF5B(NM_004521.3):c.712-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037890" "0" "50" "10" "32327122" "32327122" "subst" "0" "02329" "KIF5B_000017" "g.32327122T>C" "" "" "" "KIF5B(NM_004521.3):c.467A>G (p.H156R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037891" "0" "30" "10" "32337384" "32337384" "subst" "8.38167E-6" "01804" "KIF5B_000018" "g.32337384A>G" "" "" "" "KIF5B(NM_004521.3):c.214+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049760" "3" "50" "10" "32308840" "32308840" "subst" "0" "00006" "KIF5B_000019" "g.32308840T>C" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PM2, PP1, PP3; candidate disease gene" "Germline" "" "" "0" "" "" "g.32019912T>C" "" "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 KIF5B ## Count = 23 "{{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}}" "0000321480" "00010585" "50" "572" "0" "572" "0" "c.572A>T" "r.(?)" "p.(His191Leu)" "" "0000845879" "00010585" "70" "584" "0" "584" "0" "c.584C>A" "r.(584c>a)" "p.(Thr195Lys)" "" "0000845880" "00010585" "70" "701" "0" "701" "0" "c.701G>T" "r.(?)" "p.(Gly234Val)" "" "0000845881" "00010585" "70" "272" "0" "272" "0" "c.272A>G" "r.(272a>g)" "p.(Lys91Arg)" "" "0000845882" "00010585" "70" "272" "0" "272" "0" "c.272A>G" "r.(272a>g)" "p.(Lys91Arg)" "" "0000979023" "00010585" "50" "1859" "0" "1859" "0" "c.1859A>C" "r.(?)" "p.(Lys620Thr)" "" "0000979024" "00010585" "30" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Ser527Leu)" "" "0000979025" "00010585" "50" "1460" "0" "1462" "0" "c.1460_1462del" "r.(?)" "p.(Glu487del)" "" "0000979026" "00010585" "50" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Val70Ile)" "" "0001025738" "00010585" "30" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Ser527Leu)" "" "0001030141" "00010585" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Thr87Ile)" "" "0001030142" "00010585" "90" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Thr87Ile)" "" "0001030143" "00010585" "90" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Gly90Ala)" "" "0001030144" "00010585" "90" "584" "0" "584" "0" "c.584C>A" "r.(?)" "p.(Thr195Lys)" "" "0001030145" "00010585" "90" "1610" "0" "1610" "0" "c.1610T>C" "r.(?)" "p.(Leu537Pro)" "" "0001030146" "00010585" "90" "765" "0" "767" "0" "c.765_767del" "r.(?)" "p.(Asn255del)" "" "0001030147" "00010585" "90" "1493" "0" "1493" "0" "c.1493T>C" "r.(?)" "p.(Leu498Pro)" "" "0001037887" "00010585" "30" "2306" "0" "2306" "0" "c.2306C>T" "r.(?)" "p.(Thr769Met)" "" "0001037888" "00010585" "50" "1160" "0" "1160" "0" "c.1160T>G" "r.(?)" "p.(Leu387Trp)" "" "0001037889" "00010585" "30" "712" "-4" "712" "-4" "c.712-4A>G" "r.spl?" "p.?" "" "0001037890" "00010585" "50" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(His156Arg)" "" "0001037891" "00010585" "30" "214" "8" "214" "8" "c.214+8T>C" "r.(=)" "p.(=)" "" "0001049760" "00010585" "50" "2252" "0" "2252" "0" "c.2252A>G" "r.(?)" "p.(His751Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000408877" "0000845879" "0000408878" "0000845880" "0000408879" "0000845881" "0000408880" "0000845882" "0000466239" "0001030141" "0000466240" "0001030142" "0000466241" "0001030143" "0000466242" "0001030144" "0000466244" "0001030145" "0000466245" "0001030146" "0000466246" "0001030147" "0000469462" "0001049760"