### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KYNU) # 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}}" "KYNU" "kynureninase" "2" "q22.2" "unknown" "NG_023254.1" "UD_132118553298" "" "https://www.LOVD.nl/KYNU" "" "1" "6469" "8942" "605197" "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/KYNU_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-08 13:17:34" "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}}" "00025488" "KYNU" "transcript variant 1" "003" "NM_003937.2" "" "NP_003928.1" "" "" "" "-130" "1542" "1398" "143635195" "143799885" "00006" "2020-01-08 17:16:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "04552" "-" "hydroxykynureninuria?" "AR" "236800" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05031" "CATMANS" "Catel-Manzke syndrome (CATMANS)" "AR" "616145" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05680" "VCRL" "vertebral, cardiac, renal, and limb defects syndrome (VCRL)" "XLR" "" "" "" "" "00006" "2020-01-06 15:52:43" "00006" "2021-12-10 21:51:32" "05682" "VCRL2" "vertebral, cardiac, renal, and limb defects syndrome, type 2 (VCRL2)" "AR" "617661" "" "" "" "00006" "2020-01-06 15:55:01" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "KYNU" "04552" "KYNU" "05031" "KYNU" "05680" "KYNU" "05682" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00275557" "" "" "" "1" "" "00006" "{PMID:Shi 2017:28792876}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Lebanon" "FamC" "00275558" "" "" "" "1" "" "00006" "{PMID:Shi 2017:28792876}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "FamD" "00303205" "" "" "" "2" "" "00006" "{PMID:Christensen 2007:17334708}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Denmark" "" "0" "" "" "" "family" "00303206" "" "" "" "1" "" "00006" "{PMID:Ehmke 2020:31923704}" "" "M" "" "" "" "0" "" "" "Caribbean" "Pat1" "00303207" "" "" "" "1" "" "00006" "{PMID:Ehmke 2020:31923704}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat2" "00303208" "" "" "" "1" "" "00006" "{PMID:Ehmke 2020:31923704}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00359452" "" "" "" "1" "" "01709" "" "" "" "" "(Brazil)" "" "0" "" "" "" "" "00436117" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}, {PMID:Guo 2023:37352860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "F5;FamPat5" "00436122" "" "" "" "2" "" "00006" "{PMID:Szot 2021:33942433}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Fam7PatII2" "00436123" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Fam6" "00436124" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives, unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00275557" "00198" "00275558" "00198" "00303205" "04552" "00303206" "05031" "00303207" "05031" "00303208" "05031" "00359452" "05031" "00436117" "00198" "00436122" "00198" "00436123" "00198" "00436124" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04552, 05031, 05680, 05682 ## Count = 11 "{{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}}" "0000210173" "00198" "00275557" "00006" "Familial, autosomal recessive" "" "vertebral segmentation defects; patent ductus arteriosus; renal hypoplasia; limb defects talipes, syndactyly, rhizomelia; low-set ears; anterior anus" "" "" "" "" "" "" "" "" "VCRL2" "multiple congenital malformations" "" "0000210174" "00198" "00275558" "00006" "Familial, autosomal recessive" "" "vertebral segmentation defects; hypoplastic left heart; solitary kidney, chronic kidney disease; shortened long bones; normal hearing/ears, no hearing defect; short stature, speech delay" "" "" "" "" "" "" "" "" "VCRL2" "" "" "0000230289" "04552" "00303205" "00006" "Familial, autosomal recessive" "" "massive urinary excretion of xanthurenic acid, 3-hydroxykynurenine and kynurenine" "" "" "" "" "" "" "" "" "" "" "" "0000230290" "05031" "00303206" "00006" "Familial, autosomal recessive" "13y" "short stature (HP:0004322) -2.3 SD; vertebral anomalies (HP:0003468), butterfly vertebrae T10–11, scoliosis; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); no other limb defects (-HP:0040068); no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), hypoplastic left heart; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); no microcephaly (-HP:0000252); facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); hepatomegaly" "" "" "" "" "" "" "" "" "" "Catel-Manzke syndrome" "" "0000230291" "05031" "00303207" "00006" "Familial, autosomal recessive" "3y" "short stature (HP:0004322) -4.6 SD; vertebral anomalies (HP:0003468), butterfly vertebra T8; no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), long thumbs; no Pierre Robin sequence with cleft palate (-HP:0000201); no microretrognathia (-HP:0000308); no renal malformation (-HP:0012210); congenital heart defect (HP:0001627), Tetralogy of Fallot, anomalous origin left coronary artery from pulmonary artery; developmental delay (HP 0001263); severe muscular hypotonia (HP:0001252); failure to thrive (HP:0001531), PEG feeding; microcephaly (HP:0000252) -6.4 SD; facial dysmorphism (HP:0001999); no joint hypermobility (-HP:0001382); sensorineural hearing loss (HP:0000407); malformation of cochlea and semicircular canals (HP:0008554, HP:0011380); bilateral single transverse palmar crease" "" "" "" "" "" "" "" "" "" "Catel-Manzke syndrome" "" "0000230292" "05031" "00303208" "00006" "Familial, autosomal recessive" "5y" "short stature (HP:0004322) -2.2 SD; no vertebral anomalies (-HP:0003468); no talipes (-HP:0001883); Manzke dysostosis/finger hyperphalangism (HP:0009495/HP:0030367); other limb defects (HP:0040068), short 3rd fingers and short 2nd metacarpals due to accessory ossicles, clinodactyly of 5th fingers, 2,3-toe syndactyly; no Pierre Robin sequence with cleft palate (-HP:0000201); microretrognathia (HP:0000308); renal malformation (HP:0012210), unilateral renal agenesis; congenital heart defect (HP:0001627), secundum atrial septal defect, subaortic ventricular septal defect; mild developmental delay (HP 0001263); no muscular hypotonia (-HP:0001252); no failure to thrive (-HP:0001531); microcephaly (HP:0000252) -2.3 SD; facial dysmorphism (HP:0001999); joint hypermobility (HP:0001382)" "" "" "" "" "" "" "" "" "" "Catel-Manzke syndrome" "" "0000254693" "05031" "00359452" "01709" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Catel-Manzke like syndrome, Manzke dysostosis, hyperphalangism" "" "0000326301" "00198" "00436117" "00006" "Familial, autosomal recessive" "8y9m" "see paper; ..., fetal ultrasound unremarkable, birth at term, weight 2,760g, length 50cm at 6 weeks (-2.1 SD); weight 22kg (8th centile), length 130.8cm (46th centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; no hydronephrosis; global developmental delay, autism" "" "" "" "" "" "" "" "" "" "intellectual disability, digital anomalies" "" "0000326306" "00198" "00436122" "00006" "Familial, autosomal recessive" "" "see paper; ..., aortic hypoplasia, atrial septal defect, ventricular septal defect, mitral valve stenosis, dilatation pulmonary trunk and ductus arteriosus; no renal anomalies; shortening all extremities\tMild facial dysmorphism, hypertelorism, prominent folds at the inner sides of the eyes, ventriculomegaly with unaffected cerebellum" "" "" "" "" "" "" "" "" "" "" "" "0000326307" "00198" "00436123" "00006" "Familial, autosomal recessive" "" "see paper; ..., no cardiac anomalies; no renal anomalies; cutaneous syndactyly of upper and lower extremities (digits 3-4 (right hand), digits 3-5 (left hand; 2/3 toe syndactyly), short limbs; growth restriction, developmental delay, cleft palate, cutis marmorata, mild facial dysmorphism (short midface, upturned nose, thin lips, brachycephaly, high anterior hairline, short palpebral fissures, thick nasal alae), ocular crystals, flat iris nodules, uniform hypopigmented patches iris bilaterally" "" "" "" "" "" "" "" "" "" "" "" "0000326308" "00198" "00436124" "00006" "Familial, autosomal recessive" "" "see paper; ..., nine ribs, bilaterally, multiple proximal fusions, lower 3 pairs of ribs; multiple segmentation errors of the vertebral, thoracic and lumbar spine; hypoplastic sacrum; Tetralogy of Fallot (absent pulmonary valve), abnormal fusion of right posterior semicircular canal; absent left kidney; upper and lower limbs appear short; prominent pterygia at shoulders, elbows, and wrists; clenched hands with overlapping fingers, mild brachymelia; craniofacial dysmorphism (squared facial profile, short neck with webbing; low anterior hairline, prominent brow; nose broad and flat with anteverted nares; posteriorly angled ears; microretrognathia; ankloglossia), excess wrinkled skin; hypoplastic right lung; small stomach; polyhydramnios (tracheoesophageal fistula)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000276716" "00275557" "1" "00006" "00006" "2020-01-08 16:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276717" "00275558" "1" "00006" "00006" "2020-01-08 16:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304330" "00303205" "1" "00006" "00006" "2020-06-08 13:07:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000304331" "00303206" "1" "00006" "00006" "2020-06-08 13:43:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304332" "00303207" "1" "00006" "00006" "2020-06-08 13:43:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304333" "00303208" "1" "00006" "00006" "2020-06-08 13:43:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360682" "00359452" "1" "01709" "00006" "2021-03-22 12:01:49" "" "" "SEQ" "DNA" "" "" "0000437598" "00436117" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437603" "00436122" "1" "00006" "00006" "2023-08-11 10:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437604" "00436123" "1" "00006" "00006" "2023-08-11 10:26:51" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437605" "00436124" "1" "00006" "00006" "2023-08-11 14:28:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000276716" "KYNU" "0000276717" "KYNU" "0000304330" "KYNU" "0000304331" "KYNU" "0000304332" "KYNU" "0000304333" "KYNU" ## 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 = 33 "{{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}}" "0000606109" "0" "90" "2" "143790837" "143790837" "subst" "0" "01943" "KYNU_000001" "g.143790837C>T" "" "" "" "KYNU(NM_001199241.1):c.988C>T (p.R330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143033268C>T" "" "pathogenic" "" "0000630845" "3" "90" "2" "143676177" "143676177" "subst" "0" "00006" "KYNU_000002" "g.143676177G>T" "" "{PMID:Shi 2017:28792876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142918608G>T" "" "pathogenic (recessive)" "" "0000630846" "11" "90" "2" "143713804" "143713804" "subst" "6.52811E-5" "00006" "KYNU_000003" "g.143713804T>A" "" "{PMID:Shi 2017:28792876}" "" "" "" "Germline" "" "" "0" "" "" "g.142956235T>A" "" "pathogenic (recessive)" "" "0000630847" "21" "90" "2" "143798000" "143798006" "del" "0" "00006" "KYNU_000004" "g.143798000_143798006del" "" "{PMID:Shi 2017:28792876}" "" "1045_1051delTTTAAGC" "{CV:SCV000540923}" "Germline" "" "" "0" "" "" "g.143040431_143040437del" "" "pathogenic (recessive)" "" "0000667762" "3" "90" "2" "143718202" "143718202" "subst" "1.62743E-5" "00006" "KYNU_000005" "g.143718202A>G" "" "{PMID:Christensen 2007:17334708}" "" "593A>G (T198A)" "" "Germline" "yes" "" "0" "" "" "g.142960633A>G" "" "pathogenic (recessive)" "" "0000667763" "10" "90" "2" "143799625" "143799625" "subst" "6.9172E-5" "00006" "KYNU_000008" "g.143799625C>T" "" "{PMID:Ehmke 2020:31923704}" "" "" "father not available" "Germline/De novo (untested)" "" "rs147475752" "0" "" "" "g.143042056C>T" "" "pathogenic (recessive)" "" "0000667764" "3" "90" "2" "143790838" "143790838" "subst" "4.06098E-6" "00006" "KYNU_000007" "g.143790838G>A" "" "{PMID:Ehmke 2020:31923704}" "" "" "" "Germline" "" "rs142934146" "0" "" "" "g.143033269G>A" "" "pathogenic (recessive)" "" "0000667765" "3" "90" "2" "143685263" "143685263" "subst" "8.12513E-6" "00006" "KYNU_000006" "g.143685263G>C" "" "{PMID:Ehmke 2020:31923704}" "" "" "" "Germline" "" "rs780720490" "0" "" "" "g.142927694G>C" "" "pathogenic (recessive)" "" "0000667767" "21" "90" "2" "143634577" "143719262" "del" "0" "00006" "KYNU_000009" "g.(?_143634577)_(143719262_143805643)del" "" "{PMID:Ehmke 2020:31923704}" "" "arr[GRCh37]2q22.2(143,634,577-143,719,262)x1" "85 kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000760756" "3" "70" "2" "143743591" "143743591" "subst" "4.89936E-5" "01709" "KYNU_000010" "g.143743591G>A" "" "" "" "" "" "Germline" "yes" "rs754953201" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000883741" "0" "30" "2" "143715192" "143715192" "subst" "0.00184788" "02326" "KYNU_000011" "g.143715192A>G" "" "" "" "KYNU(NM_003937.3):c.508-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883742" "0" "30" "2" "143718359" "143718359" "subst" "0.000732298" "02326" "KYNU_000012" "g.143718359C>A" "" "" "" "KYNU(NM_003937.3):c.729+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911181" "0" "30" "2" "143643010" "143643010" "subst" "0.00190045" "02326" "KYNU_000013" "g.143643010C>T" "" "" "" "KYNU(NM_003937.3):c.74C>T (p.T25M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000932911" "3" "50" "2" "143718226" "143718226" "subst" "1.62727E-5" "00006" "KYNU_000014" "g.143718226G>A" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.142960657G>A" "" "VUS" "" "0000932912" "11" "90" "2" "143713825" "143713825" "del" "0" "00006" "KYNU_000015" "g.143713825del" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "yes" "" "0" "" "" "g.142956256del" "" "pathogenic (recessive)" "" "0000932913" "21" "90" "2" "143799625" "143799625" "subst" "6.9172E-5" "00006" "KYNU_000008" "g.143799625C>T" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "yes" "" "0" "" "" "g.143042056C>T" "" "pathogenic (recessive)" "" "0000932914" "11" "90" "2" "143685298" "143685300" "del" "0" "00006" "KYNU_000016" "g.143685298_143685300del" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.142927729_142927731del" "" "pathogenic (recessive)" "" "0000932915" "21" "90" "2" "143790884" "143790884" "subst" "8.1213E-6" "00006" "KYNU_000017" "g.143790884T>A" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.143033315T>A" "" "pathogenic (recessive)" "" "0000932916" "3" "90" "2" "143742711" "143742711" "subst" "0" "00006" "KYNU_000018" "g.143742711A>G" "" "{PMID:Szot 2021:33942433}" "" "" "" "Germline" "" "" "0" "" "" "g.142985142A>G" "" "pathogenic (recessive)" "" "0000947352" "0" "30" "2" "143718348" "143718348" "subst" "0.00194459" "02326" "KYNU_000019" "g.143718348G>A" "" "" "" "KYNU(NM_003937.3):c.729+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961301" "0" "90" "2" "143676264" "143676264" "dup" "0" "02326" "KYNU_000020" "g.143676264dup" "" "" "" "KYNU(NM_003937.2):c.256dupT (p.(Tyr86fs)), KYNU(NM_003937.3):c.256dupT (p.Y86Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991634" "0" "70" "2" "143676264" "143676264" "dup" "0" "01804" "KYNU_000020" "g.143676264dup" "" "" "" "KYNU(NM_003937.2):c.256dupT (p.(Tyr86fs)), KYNU(NM_003937.3):c.256dupT (p.Y86Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991636" "0" "70" "2" "143799644" "143799644" "subst" "1.2207E-5" "01804" "KYNU_000021" "g.143799644G>A" "" "" "" "KYNU(NM_003937.2):c.1301G>A (p.(Arg434Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013377" "0" "70" "2" "143790838" "143790838" "subst" "4.06098E-6" "02327" "KYNU_000007" "g.143790838G>A" "" "" "" "KYNU(NM_003937.3):c.989G>A (p.(Arg330Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032374" "0" "50" "2" "143712432" "143712432" "subst" "4.0796E-6" "01804" "KYNU_000022" "g.143712432C>A" "" "" "" "KYNU(NM_003937.3):c.427C>A (p.(Leu143Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032375" "0" "30" "2" "143718187" "143718187" "subst" "1.62771E-5" "01804" "KYNU_000023" "g.143718187A>G" "" "" "" "KYNU(NM_003937.3):c.583-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032376" "0" "70" "2" "143743591" "143743591" "subst" "4.89936E-5" "01804" "KYNU_000010" "g.143743591G>A" "" "" "" "KYNU(NM_003937.3):c.902+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032377" "0" "90" "2" "143790838" "143790838" "subst" "4.06098E-6" "01804" "KYNU_000007" "g.143790838G>A" "" "" "" "KYNU(NM_003937.3):c.989G>A (p.(Arg330Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050806" "0" "50" "2" "143715262" "143715262" "subst" "0" "01804" "KYNU_000024" "g.143715262T>A" "" "" "" "KYNU(NM_003937.3):c.560T>A (p.(Met187Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050807" "0" "50" "2" "143742657" "143742657" "subst" "0" "01804" "KYNU_000025" "g.143742657G>A" "" "" "" "KYNU(NM_003937.3):c.734G>A (p.(Cys245Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050808" "0" "50" "2" "143743533" "143743533" "subst" "4.08423E-6" "01804" "KYNU_000026" "g.143743533C>T" "" "" "" "KYNU(NM_003937.3):c.845C>T (p.(Ala282Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050809" "0" "50" "2" "143790802" "143790802" "subst" "0" "01804" "KYNU_000027" "g.143790802C>G" "" "" "" "KYNU(NM_003937.3):c.956-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050810" "0" "50" "2" "143798037" "143798037" "subst" "0" "01804" "KYNU_000028" "g.143798037C>A" "" "" "" "KYNU(NM_003937.3):c.1082C>A (p.(Ser361Tyr))" "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 KYNU ## 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}}" "0000606109" "00025488" "90" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0000630845" "00025488" "90" "170" "-1" "170" "-1" "c.170-1G>T" "r.spl" "p.(Val57Glufs*21)" "" "0000630846" "00025488" "90" "468" "0" "468" "0" "c.468T>A" "r.(?)" "p.(Tyr156*)" "" "0000630847" "00025488" "90" "1045" "0" "1051" "0" "c.1045_1051del" "r.(?)" "p.(Phe349Lysfs*4)" "" "0000667762" "00025488" "90" "592" "0" "592" "0" "c.592A>G" "r.592a>g" "p.Thr198Ala" "" "0000667763" "00025488" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428Trp)" "" "0000667764" "00025488" "90" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Gln)" "" "0000667765" "00025488" "90" "326" "0" "326" "0" "c.326G>C" "r.(?)" "p.(Trp109Ser)" "" "0000667767" "00025488" "90" "0" "0" "0" "0" "c.-130_(729+923_730-1)[0]" "r.0?" "p.0?" "" "0000760756" "00025488" "70" "902" "1" "902" "1" "c.902+1G>A" "r.spl" "p.?" "" "0000883741" "00025488" "30" "508" "-18" "508" "-18" "c.508-18A>G" "r.(=)" "p.(=)" "" "0000883742" "00025488" "30" "729" "20" "729" "20" "c.729+20C>A" "r.(=)" "p.(=)" "" "0000911181" "00025488" "30" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Thr25Met)" "" "0000932911" "00025488" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Glu206Lys)" "" "0000932912" "00025488" "90" "489" "0" "489" "0" "c.489del" "r.(?)" "p.(Ala164Profs*26)" "" "0000932913" "00025488" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428Trp)" "" "0000932914" "00025488" "90" "361" "0" "363" "0" "c.361_363del" "r.(?)" "p.(Lys121del)" "" "0000932915" "00025488" "90" "1035" "0" "1035" "0" "c.1035T>A" "r.(?)" "p.(Ser345Arg)" "" "0000932916" "00025488" "90" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(His263Arg)" "" "0000947352" "00025488" "30" "729" "9" "729" "9" "c.729+9G>A" "r.(=)" "p.(=)" "" "0000961301" "00025488" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Tyr86Leufs*3)" "" "0000991634" "00025488" "70" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Tyr86Leufs*3)" "" "0000991636" "00025488" "70" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434Gln)" "" "0001013377" "00025488" "70" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Gln)" "" "0001032374" "00025488" "50" "427" "0" "427" "0" "c.427C>A" "r.(?)" "p.(Leu143Ile)" "" "0001032375" "00025488" "30" "583" "-6" "583" "-6" "c.583-6A>G" "r.(=)" "p.(=)" "" "0001032376" "00025488" "70" "902" "1" "902" "1" "c.902+1G>A" "r.spl?" "p.?" "" "0001032377" "00025488" "90" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Gln)" "" "0001050806" "00025488" "50" "560" "0" "560" "0" "c.560T>A" "r.(?)" "p.(Met187Lys)" "" "0001050807" "00025488" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Cys245Tyr)" "" "0001050808" "00025488" "50" "845" "0" "845" "0" "c.845C>T" "r.(?)" "p.(Ala282Val)" "" "0001050809" "00025488" "50" "956" "-3" "956" "-3" "c.956-3C>G" "r.spl?" "p.?" "" "0001050810" "00025488" "50" "1082" "0" "1082" "0" "c.1082C>A" "r.(?)" "p.(Ser361Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000276716" "0000630845" "0000276717" "0000630846" "0000276717" "0000630847" "0000304330" "0000667762" "0000304331" "0000667763" "0000304331" "0000667767" "0000304332" "0000667764" "0000304333" "0000667765" "0000360682" "0000760756" "0000437598" "0000932911" "0000437603" "0000932912" "0000437603" "0000932913" "0000437604" "0000932914" "0000437604" "0000932915" "0000437605" "0000932916"