### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NEK8)
# 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}}"
"NEK8" "NIMA-related kinase 8" "17" "q11.1" "unknown" "NG_012263.1" "UD_132119107766" "" "https://www.LOVD.nl/NEK8" "" "1" "13387" "284086" "609799" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\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/NEK8_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-25 19:19:04" "00000" "2025-05-05 21:14:00"
## 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}}"
"00014472" "NEK8" "NIMA (never in mitosis gene a)- related kinase 8" "001" "NM_178170.2" "" "NP_835464.1" "" "" "" "1" "2858" "2079" "27055832" "27069784" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45"
"03448" "NPHP9" "nephronophthisis, type 9 (NPHP-9)" "" "613824" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03935" "RHPD2" "Renal-hepatic-pancreatic dysplasia 2" "AR" "615415" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"NEK8" "03448"
"NEK8" "03935"
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00300267" "" "" "" "1" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "yes" "(France)" "00y" "0" "no" "" "" "Pt5489"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00300267" "00152"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00152, 03448, 03935
## Count = 1
"{{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}}"
"0000227565" "00152" "00300267" "01195" "Unknown" "00y" "LSVC, large coronary sinus, posterior VSD, pulmonary atresia, right aortic arch, Right: 4 lobes, left: 5 lobes, asplenia, intestinal malrotation" "00y" "00y" "00y" "" "" "" "" "heterotaxy and complex congenital heart defect" ""
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000301385" "00300267" "1" "01195" "01195" "2020-04-26 10:10:40" "" "" "SEQ;SEQ-NG-I" "DNA" "Amniocentecis, Thymus" "Panel of 296 genes"
## 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 = 54
"{{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}}"
"0000255926" "0" "50" "17" "27061084" "27061084" "subst" "2.03029E-5" "01943" "NEK8_000001" "g.27061084A>T" "" "" "" "NEK8(NM_178170.3):c.131A>T (p.E44V, p.(Glu44Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28734066A>T" "" "VUS" ""
"0000303008" "0" "90" "17" "27068255" "27068255" "subst" "0" "01943" "NEK8_000005" "g.27068255G>A" "" "" "" "NEK8(NM_178170.3):c.1891+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28741237G>A" "" "pathogenic" ""
"0000303009" "0" "90" "17" "27068256" "27068256" "subst" "0" "01943" "NEK8_000006" "g.27068256T>C" "" "" "" "NEK8(NM_178170.3):c.1891+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28741238T>C" "" "pathogenic" ""
"0000303010" "0" "50" "17" "27061955" "27061955" "subst" "0.000235824" "01943" "NEK8_000002" "g.27061955G>T" "" "" "" "NEK8(NM_178170.3):c.419G>T (p.R140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28734937G>T" "" "VUS" ""
"0000303011" "0" "30" "17" "27061971" "27061971" "subst" "4.88146E-5" "01943" "NEK8_000003" "g.27061971C>T" "" "" "" "NEK8(NM_178170.3):c.435C>T (p.I145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28734953C>T" "" "likely benign" ""
"0000303012" "0" "50" "17" "27064935" "27064935" "subst" "0.000138853" "01943" "NEK8_000004" "g.27064935C>T" "" "" "" "NEK8(NM_178170.3):c.988C>T (p.L330F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28737917C>T" "" "VUS" ""
"0000325309" "0" "50" "17" "27068586" "27068586" "subst" "0" "01804" "NEK8_000007" "g.27068586C>T" "" "" "" "NEK8(NM_178170.2):c.2047C>T (p.(Arg683Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28741568C>T" "" "VUS" ""
"0000342940" "0" "90" "17" "27061086" "27061086" "subst" "0" "02327" "NEK8_000008" "g.27061086C>T" "" "" "" "NEK8(NM_178170.3):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28734068C>T" "" "pathogenic" ""
"0000560734" "0" "30" "17" "27064689" "27064689" "subst" "8.18719E-6" "01804" "NEK8_000010" "g.27064689G>T" "" "" "" "NEK8(NM_178170.2):c.828-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28737671G>T" "" "likely benign" ""
"0000560735" "0" "30" "17" "27065187" "27065187" "subst" "2.84585E-5" "01943" "NEK8_000011" "g.27065187G>A" "" "" "" "NEK8(NM_178170.3):c.1146G>A (p.S382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28738169G>A" "" "likely benign" ""
"0000560736" "0" "30" "17" "27065187" "27065187" "subst" "4.0655E-6" "01943" "NEK8_000012" "g.27065187G>C" "" "" "" "NEK8(NM_178170.3):c.1146G>C (p.S382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28738169G>C" "" "likely benign" ""
"0000560737" "0" "50" "17" "27067552" "27067552" "subst" "0.00103142" "01943" "NEK8_000013" "g.27067552G>C" "" "" "" "NEK8(NM_178170.3):c.1489G>C (p.A497P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28740534G>C" "" "VUS" ""
"0000560738" "0" "90" "17" "27068158" "27068158" "subst" "6.09177E-5" "02327" "NEK8_000014" "g.27068158C>T" "" "" "" "NEK8(NM_178170.3):c.1795C>T (p.R599*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28741140C>T" "" "pathogenic" ""
"0000560739" "0" "90" "17" "27068158" "27068158" "subst" "6.09177E-5" "02326" "NEK8_000014" "g.27068158C>T" "" "" "" "NEK8(NM_178170.3):c.1795C>T (p.R599*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28741140C>T" "" "pathogenic" ""
"0000560740" "0" "70" "17" "27068167" "27068167" "subst" "4.06154E-5" "02327" "NEK8_000015" "g.27068167C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28741149C>T" "" "likely pathogenic" ""
"0000560741" "0" "50" "17" "27068531" "27068531" "subst" "2.03042E-5" "01943" "NEK8_000016" "g.27068531C>G" "" "" "" "NEK8(NM_178170.3):c.1992C>G (p.H664Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28741513C>G" "" "VUS" ""
"0000560742" "0" "10" "17" "27068978" "27068978" "subst" "0.00763207" "01943" "NEK8_000017" "g.27068978G>A" "" "" "" "NEK8(NM_178170.3):c.2052G>A (p.S684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28741960G>A" "" "benign" ""
"0000616441" "0" "50" "17" "27068489" "27068489" "subst" "0" "01943" "NEK8_000019" "g.27068489G>C" "" "" "" "NEK8(NM_178170.3):c.1950G>C (p.E650D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28741471G>C" "" "VUS" ""
"0000623638" "0" "30" "17" "27061830" "27061830" "subst" "9.75737E-5" "01943" "NEK8_000018" "g.27061830C>G" "" "" "" "NEK8(NM_178170.3):c.294C>G (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28734812C>G" "" "likely benign" ""
"0000658071" "0" "50" "17" "27067504" "27067504" "subst" "4.06134E-6" "02325" "NEK8_000020" "g.27067504G>A" "" "" "" "NEK8(NM_178170.3):c.1441G>A (p.E481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28740486G>A" "" "VUS" ""
"0000664314" "3" "70" "17" "27064394" "27064394" "subst" "0" "01195" "NEK8_000021" "g.27064394A>T" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "" "" "0" "" "" "g.28737376A>T" "" "pathogenic" ""
"0000680812" "0" "90" "17" "27061915" "27061915" "subst" "4.06527E-6" "01943" "NEK8_000022" "g.27061915C>T" "" "" "" "NEK8(NM_178170.3):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000692293" "0" "50" "17" "27064924" "27064924" "subst" "6.54429E-5" "01943" "NEK8_000023" "g.27064924G>A" "" "" "" "NEK8(NM_178170.3):c.977G>A (p.R326Q, p.(Arg326Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692294" "0" "50" "17" "27068436" "27068436" "subst" "0.000776852" "01943" "NEK8_000024" "g.27068436G>A" "" "" "" "NEK8(NM_178170.3):c.1897G>A (p.E633K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726247" "0" "50" "17" "27061086" "27061086" "subst" "0" "01943" "NEK8_000008" "g.27061086C>T" "" "" "" "NEK8(NM_178170.3):c.133C>T (p.R45W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726248" "0" "30" "17" "27061166" "27061166" "subst" "0" "01943" "NEK8_000025" "g.27061166G>A" "" "" "" "NEK8(NM_178170.3):c.213G>A (p.L71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726249" "0" "50" "17" "27064400" "27064400" "subst" "3.25921E-5" "01943" "NEK8_000026" "g.27064400G>A" "" "" "" "NEK8(NM_178170.3):c.695G>A (p.R232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726250" "0" "50" "17" "27065189" "27065189" "subst" "0.000268334" "02325" "NEK8_000027" "g.27065189G>A" "" "" "" "NEK8(NM_178170.3):c.1148G>A (p.R383H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726251" "0" "50" "17" "27067956" "27067956" "subst" "0" "02325" "NEK8_000028" "g.27067956C>G" "" "" "" "NEK8(NM_178170.3):c.1685C>G (p.P562R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726252" "0" "90" "17" "27068158" "27068158" "subst" "6.09177E-5" "01943" "NEK8_000014" "g.27068158C>T" "" "" "" "NEK8(NM_178170.3):c.1795C>T (p.R599*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000726253" "0" "90" "17" "27068463" "27068463" "subst" "8.12513E-6" "01943" "NEK8_000029" "g.27068463C>T" "" "" "" "NEK8(NM_178170.3):c.1924C>T (p.R642*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000726254" "0" "50" "17" "27068998" "27068998" "subst" "5.2843E-5" "01943" "NEK8_000030" "g.27068998C>T" "" "" "" "NEK8(NM_178170.3):c.2072C>T (p.P691L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000807856" "0" "30" "17" "27061980" "27061980" "subst" "2.84866E-5" "02326" "NEK8_000031" "g.27061980C>T" "" "" "" "NEK8(NM_178170.3):c.444C>T (p.F148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807857" "0" "30" "17" "27065238" "27065238" "subst" "8.12704E-6" "01943" "NEK8_000032" "g.27065238G>A" "" "" "" "NEK8(NM_178170.3):c.1197G>A (p.G399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807858" "0" "30" "17" "27067914" "27067914" "subst" "0" "01943" "NEK8_000033" "g.27067914T>G" "" "" "" "NEK8(NM_178170.3):c.1643T>G (p.L548R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807859" "0" "50" "17" "27068505" "27068505" "subst" "1.62437E-5" "01943" "NEK8_000034" "g.27068505C>T" "" "" "" "NEK8(NM_178170.3):c.1966C>T (p.R656W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854794" "0" "30" "17" "27061830" "27061830" "subst" "9.75737E-5" "02326" "NEK8_000018" "g.27061830C>G" "" "" "" "NEK8(NM_178170.3):c.294C>G (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854795" "0" "30" "17" "27064988" "27064988" "subst" "8.19605E-6" "02326" "NEK8_000036" "g.27064988C>T" "" "" "" "NEK8(NM_178170.3):c.1041C>T (p.V347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854796" "0" "30" "17" "27066227" "27066227" "subst" "1.62425E-5" "01943" "NEK8_000037" "g.27066227C>T" "" "" "" "NEK8(NM_178170.3):c.1417+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865123" "0" "30" "17" "27062353" "27062353" "subst" "0.00028481" "01943" "NEK8_000035" "g.27062353C>T" "" "" "" "NEK8(NM_178170.3):c.582C>T (p.Y194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893408" "0" "30" "17" "27062401" "27062401" "subst" "0.00119904" "02326" "NEK8_000038" "g.27062401C>T" "" "" "" "NEK8(NM_178170.3):c.618+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893409" "0" "30" "17" "27065703" "27065703" "subst" "0.00045888" "02326" "NEK8_000039" "g.27065703A>C" "" "" "" "NEK8(NM_178170.3):c.1237A>C (p.M413L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893410" "0" "30" "17" "27068477" "27068477" "subst" "0.000824493" "02326" "NEK8_000040" "g.27068477A>C" "" "" "" "NEK8(NM_178170.3):c.1938A>C (p.G646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914756" "0" "30" "17" "27061843" "27061843" "subst" "0" "02326" "NEK8_000041" "g.27061843G>A" "" "" "" "NEK8(NM_178170.3):c.307G>A (p.E103K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914757" "0" "30" "17" "27062353" "27062353" "subst" "0.00028481" "02326" "NEK8_000035" "g.27062353C>T" "" "" "" "NEK8(NM_178170.3):c.582C>T (p.Y194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914758" "0" "10" "17" "27067912" "27067912" "subst" "0.0017997" "02326" "NEK8_000042" "g.27067912C>T" "" "" "" "NEK8(NM_178170.3):c.1641C>T (p.A547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000968760" "0" "90" "17" "27061915" "27061915" "subst" "4.06527E-6" "02326" "NEK8_000022" "g.27061915C>T" "" "" "" "NEK8(NM_178170.3):c.379C>T (p.R127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000968761" "0" "30" "17" "27064772" "27064772" "subst" "0.000913635" "02326" "NEK8_000043" "g.27064772G>A" "" "" "" "NEK8(NM_178170.3):c.889+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982381" "0" "50" "17" "27061084" "27061084" "subst" "2.03029E-5" "01804" "NEK8_000001" "g.27061084A>T" "" "" "" "NEK8(NM_178170.3):c.131A>T (p.E44V, p.(Glu44Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982382" "0" "50" "17" "27061201" "27061201" "subst" "2.43893E-5" "01804" "NEK8_000044" "g.27061201C>T" "" "" "" "NEK8(NM_178170.3):c.248C>T (p.(Ala83Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982383" "0" "50" "17" "27064924" "27064924" "subst" "6.54429E-5" "01804" "NEK8_000023" "g.27064924G>A" "" "" "" "NEK8(NM_178170.3):c.977G>A (p.R326Q, p.(Arg326Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982384" "0" "50" "17" "27068454" "27068454" "subst" "6.09439E-5" "01804" "NEK8_000045" "g.27068454A>C" "" "" "" "NEK8(NM_178170.3):c.1915A>C (p.(Lys639Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003057" "0" "50" "17" "27062332" "27062332" "subst" "0" "01804" "NEK8_000046" "g.27062332G>A" "" "" "" "NEK8(NM_178170.2):c.561G>A (p.(Trp187*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041712" "0" "50" "17" "27065134" "27065134" "subst" "0.000159551" "01804" "NEK8_000047" "g.27065134G>A" "" "" "" "NEK8(NM_178170.3):c.1093G>A (p.(Gly365Arg))" "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 NEK8
## Count = 54
"{{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}}"
"0000255926" "00014472" "50" "131" "0" "131" "0" "c.131A>T" "r.(?)" "p.(Glu44Val)" ""
"0000303008" "00014472" "90" "1891" "1" "1891" "1" "c.1891+1G>A" "r.spl?" "p.?" ""
"0000303009" "00014472" "90" "1891" "2" "1891" "2" "c.1891+2T>C" "r.spl?" "p.?" ""
"0000303010" "00014472" "50" "419" "0" "419" "0" "c.419G>T" "r.(?)" "p.(Arg140Leu)" ""
"0000303011" "00014472" "30" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Ile145=)" ""
"0000303012" "00014472" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Leu330Phe)" ""
"0000325309" "00014472" "50" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Ter)" ""
"0000342940" "00014472" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000560734" "00014472" "30" "828" "-4" "828" "-4" "c.828-4G>T" "r.spl?" "p.?" ""
"0000560735" "00014472" "30" "1146" "0" "1146" "0" "c.1146G>A" "r.(?)" "p.(Ser382=)" ""
"0000560736" "00014472" "30" "1146" "0" "1146" "0" "c.1146G>C" "r.(?)" "p.(Ser382=)" ""
"0000560737" "00014472" "50" "1489" "0" "1489" "0" "c.1489G>C" "r.(?)" "p.(Ala497Pro)" ""
"0000560738" "00014472" "90" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Arg599Ter)" ""
"0000560739" "00014472" "90" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Arg599Ter)" ""
"0000560740" "00014472" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000560741" "00014472" "50" "1992" "0" "1992" "0" "c.1992C>G" "r.(?)" "p.(His664Gln)" ""
"0000560742" "00014472" "10" "2052" "0" "2052" "0" "c.2052G>A" "r.(?)" "p.(Ser684=)" ""
"0000616441" "00014472" "50" "1950" "0" "1950" "0" "c.1950G>C" "r.(?)" "p.(Glu650Asp)" ""
"0000623638" "00014472" "30" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Ser98=)" ""
"0000658071" "00014472" "50" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Glu481Lys)" ""
"0000664314" "00014472" "70" "689" "0" "689" "0" "c.689A>T" "r.(689a>u)" "p.(Glu230Val)" ""
"0000680812" "00014472" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" ""
"0000692293" "00014472" "50" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326Gln)" ""
"0000692294" "00014472" "50" "1897" "0" "1897" "0" "c.1897G>A" "r.(?)" "p.(Glu633Lys)" ""
"0000726247" "00014472" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Trp)" ""
"0000726248" "00014472" "30" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Leu71=)" ""
"0000726249" "00014472" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232His)" ""
"0000726250" "00014472" "50" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" ""
"0000726251" "00014472" "50" "1685" "0" "1685" "0" "c.1685C>G" "r.(?)" "p.(Pro562Arg)" ""
"0000726252" "00014472" "90" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Arg599Ter)" ""
"0000726253" "00014472" "90" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Arg642*)" ""
"0000726254" "00014472" "50" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Pro691Leu)" ""
"0000807856" "00014472" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Phe148=)" ""
"0000807857" "00014472" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Gly399=)" ""
"0000807858" "00014472" "30" "1643" "0" "1643" "0" "c.1643T>G" "r.(?)" "p.(Leu548Arg)" ""
"0000807859" "00014472" "50" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Arg656Trp)" ""
"0000854794" "00014472" "30" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Ser98=)" ""
"0000854795" "00014472" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(Val347=)" ""
"0000854796" "00014472" "30" "1417" "8" "1417" "8" "c.1417+8C>T" "r.(=)" "p.(=)" ""
"0000865123" "00014472" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Tyr194=)" ""
"0000893408" "00014472" "30" "618" "12" "618" "12" "c.618+12C>T" "r.(=)" "p.(=)" ""
"0000893409" "00014472" "30" "1237" "0" "1237" "0" "c.1237A>C" "r.(?)" "p.(Met413Leu)" ""
"0000893410" "00014472" "30" "1938" "0" "1938" "0" "c.1938A>C" "r.(?)" "p.(Gly646=)" ""
"0000914756" "00014472" "30" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Glu103Lys)" ""
"0000914757" "00014472" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Tyr194=)" ""
"0000914758" "00014472" "10" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ala547=)" ""
"0000968760" "00014472" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Ter)" ""
"0000968761" "00014472" "30" "889" "18" "889" "18" "c.889+18G>A" "r.(=)" "p.(=)" ""
"0000982381" "00014472" "50" "131" "0" "131" "0" "c.131A>T" "r.(?)" "p.(Glu44Val)" ""
"0000982382" "00014472" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ala83Val)" ""
"0000982383" "00014472" "50" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326Gln)" ""
"0000982384" "00014472" "50" "1915" "0" "1915" "0" "c.1915A>C" "r.(?)" "p.(Lys639Gln)" ""
"0001003057" "00014472" "50" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187*)" ""
"0001041712" "00014472" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Gly365Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000301385" "0000664314"