### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA1522)
# 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}}"
"KIAA1522" "KIAA1522" "1" "p35.1" "unknown" "NC_000001.10" "UD_132455715860" "" "https://www.LOVD.nl/NHSL3" "" "1" "29301" "57648" "0" "1" "1" "1" "1" "NOTE: gene name changed from KIAA1522 to NHSL3\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KIAA1522_codingDNA.html" "1" "" "NOTE: gene name changed from KIAA1522 to NHSL3" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-30 09:13:00" "00000" "2024-02-26 20:06:56"
## 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}}"
"00025668" "KIAA1522" "transcript variant 1" "002" "NM_020888.2" "" "NP_065939.2" "" "" "" "-44" "5368" "3285" "33207512" "33240571" "00006" "2021-12-17 14:35:35" "" ""
## 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}}"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" ""
## 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}}"
"00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1"
"00396708" "" "" "" "1" "" "00006" "{PMID:Díaz-Gonzalez 2021:33106379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "Pat1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00299640" "04214"
"00396708" "06885"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 06885
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "RP78" "retinitis pigmentosa"
"0000289869" "06885" "00396708" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., severe short stature, adult height 130cm (Est); acromesomelia; bowed forearm; brachydactyly; broad hypoplasia hand phalanges; hyperlordosis; no talipes equinovarus; normal toes; no nail aplasia/hypoplasia; no facial dysmorphism; radiology normal skull, short pedicles, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees" "" "" "" "" "" "" "" "AMD4" "acromesomelic dysplasia"
## 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}}"
"0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397951" "00396708" "1" "00006" "00006" "2021-12-16 19:06:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000300750" "ARHGEF18"
## 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 = 17
"{{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}}"
"0000320722" "0" "50" "1" "33236630" "33236630" "subst" "1.63192E-5" "01804" "KIAA1522_000001" "g.33236630C>T" "" "" "" "KIAA1522(NM_001198973.1):c.410-1836C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32771029C>T" "" "VUS" ""
"0000320723" "0" "50" "1" "33237607" "33237607" "subst" "0.000165132" "01804" "KIAA1522_000002" "g.33237607G>A" "" "" "" "KIAA1522(NM_001198972.1):c.2650G>A (p.(Ala884Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32772006G>A" "" "VUS" ""
"0000507115" "0" "30" "1" "33236550" "33236550" "dup" "0" "01804" "KIAA1522_000003" "g.33236550dup" "" "" "" "KIAA1522(NM_001198972.1):c.1593dup (p.(Pro532SerfsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32770949dup" "" "likely benign" ""
"0000507122" "0" "30" "1" "33237885" "33237885" "subst" "0" "01943" "KIAA1522_000010" "g.33237885A>C" "" "" "" "KIAA1522(NM_020888.3):c.3105A>C (p.P1035=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32772284A>C" "" "likely benign" ""
"0000507123" "0" "30" "1" "33237892" "33237892" "subst" "0" "01804" "KIAA1522_000011" "g.33237892T>C" "" "" "" "KIAA1522(NM_001198972.1):c.2935T>C (p.(Ser979Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32772291T>C" "" "likely benign" ""
"0000507124" "0" "30" "1" "33237898" "33237902" "del" "0" "01804" "KIAA1522_000012" "g.33237898_33237902del" "" "" "" "KIAA1522(NM_001198972.1):c.2941_2945del (p.(Ser981ProfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32772297_32772301del" "" "likely benign" ""
"0000605680" "0" "30" "1" "33207678" "33207678" "subst" "0" "01943" "KIAA1522_000013" "g.33207678G>T" "" "" "" "KIAA1522(NM_020888.3):c.123G>T (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32742077G>T" "" "likely benign" ""
"0000605682" "0" "30" "1" "33235611" "33235611" "subst" "0.000169969" "01943" "KIAA1522_000014" "g.33235611G>C" "" "" "" "KIAA1522(NM_020888.3):c.831G>C (p.A277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32770010G>C" "" "likely benign" ""
"0000605683" "0" "30" "1" "33236550" "33236551" "ins" "0" "01804" "KIAA1522_000015" "g.33236550_33236551insG" "" "" "" "KIAA1522(NM_001198972.1):c.1593_1594insG (p.(Pro532AlafsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32770949_32770950insG" "" "likely benign" ""
"0000663604" "1" "50" "1" "33235594" "33235594" "subst" "6.45028E-5" "00006" "KIAA1522_000018" "g.33235594C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.32769993C>T" "" "VUS" ""
"0000663605" "2" "50" "1" "33237743" "33237743" "subst" "0.000119162" "00006" "KIAA1522_000019" "g.33237743C>G" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.32772142C>G" "" "VUS" ""
"0000675815" "0" "30" "1" "33207661" "33207661" "subst" "0" "01943" "KIAA1522_000020" "g.33207661C>A" "" "" "" "KIAA1522(NM_020888.3):c.106C>A (p.R36S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675817" "0" "30" "1" "33236322" "33236322" "subst" "0" "01943" "KIAA1522_000021" "g.33236322G>A" "" "" "" "KIAA1522(NM_020888.3):c.1542G>A (p.V514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688137" "0" "30" "1" "33235890" "33235890" "subst" "0.000252279" "01943" "KIAA1522_000022" "g.33235890C>T" "" "" "" "KIAA1522(NM_020888.3):c.1110C>T (p.G370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717435" "0" "50" "1" "33245099" "33245099" "subst" "0" "02329" "KIAA1522_000017" "g.33245099G>A" "" "" "" "YARS1(NM_003680.4):c.1360C>T (p.P454S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000830175" "3" "50" "1" "33233498" "33233498" "subst" "0.00682416" "00006" "KIAA1522_000023" "g.33233498C>T" "" "{PMID:Díaz-Gonzalez 2021:33106379}" "" "NM_020888.2:c.346C>T;p.Pro116Ser" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000923170" "0" "30" "1" "33245085" "33245085" "subst" "0.000954571" "02326" "KIAA1522_000016" "g.33245085C>T" "" "" "" "YARS1(NM_003680.3):c.1374G>A (p.P458=)" "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 KIAA1522
## Count = 17
"{{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}}"
"0000320722" "00025668" "50" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Thr617Met)" ""
"0000320723" "00025668" "50" "2827" "0" "2827" "0" "c.2827G>A" "r.(?)" "p.(Ala943Thr)" ""
"0000507115" "00025668" "30" "1770" "0" "1770" "0" "c.1770dup" "r.(?)" "p.(Pro591SerfsTer22)" ""
"0000507122" "00025668" "30" "3105" "0" "3105" "0" "c.3105A>C" "r.(?)" "p.(Pro1035=)" ""
"0000507123" "00025668" "30" "3112" "0" "3112" "0" "c.3112T>C" "r.(?)" "p.(Ser1038Pro)" ""
"0000507124" "00025668" "30" "3118" "0" "3122" "0" "c.3118_3122del" "r.(?)" "p.(Ser1040ProfsTer4)" ""
"0000605680" "00025668" "30" "123" "0" "123" "0" "c.123G>T" "r.(?)" "p.(Leu41=)" ""
"0000605682" "00025668" "30" "831" "0" "831" "0" "c.831G>C" "r.(?)" "p.(Ala277=)" ""
"0000605683" "00025668" "30" "1770" "0" "1771" "0" "c.1770_1771insG" "r.(?)" "p.(Pro591AlafsTer22)" ""
"0000663604" "00025668" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Trp)" ""
"0000663605" "00025668" "50" "2963" "0" "2963" "0" "c.2963C>G" "r.(?)" "p.(Ser988Cys)" ""
"0000675815" "00025668" "30" "106" "0" "106" "0" "c.106C>A" "r.(?)" "p.(Arg36Ser)" ""
"0000675817" "00025668" "30" "1542" "0" "1542" "0" "c.1542G>A" "r.(?)" "p.(Val514=)" ""
"0000688137" "00025668" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Gly370=)" ""
"0000717435" "00025668" "50" "9896" "0" "9896" "0" "c.*6611G>A" "r.(=)" "p.(=)" ""
"0000830175" "00025668" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Pro116Ser)" ""
"0000923170" "00025668" "30" "9882" "0" "9882" "0" "c.*6597C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000300750" "0000663604"
"0000300750" "0000663605"
"0000397951" "0000830175"