### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VRK1) # 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}}" "VRK1" "vaccinia related kinase 1" "14" "q32.2" "unknown" "NC_000014.8" "UD_132084483478" "" "https://www.LOVD.nl/VRK1" "" "1" "12718" "7443" "602168" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-03-06 17:34:37" "00006" "2026-03-06 17:34:01" ## 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}}" "00022661" "VRK1" "vaccinia related kinase 1" "001" "NM_003384.2" "" "NP_003375.1" "" "" "" "-106" "1597" "1191" "97263684" "97347951" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02676" "PCH1A" "hypoplasia, pontocerebellar, type 1A" "AR" "607596" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "07238" "HMNR10" "neuronopathy, distal hereditary motor, autosomal recessive, type 10" "AR" "620542" "" "" "" "00006" "2026-03-06 17:36:48" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "VRK1" "02676" "VRK1" "07238" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00081058" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00291152" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304454" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361548" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG0443" "00374534" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-569" "00375664" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat74" "00473692" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9515096Pat1117" "00473766" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9614092Pat1221" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00081058" "02676" "00291152" "00198" "00304454" "00198" "00361548" "00139" "00374534" "00198" "00375664" "00198" "00473692" "00244" "00473766" "05123" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 02676, 05123, 07238 ## 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}}" "0000060627" "02676" "00081058" "01758" "Familial, autosomal recessive" "" "Pontocerebellar hypoplasia type 1A (OMIM:607596)" "" "" "" "" "" "" "" "" "" "" "" "0000256953" "00139" "00361548" "00006" "Familial, autosomal recessive" "10y" "not syndromic; global developmental delay, microlissencephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269744" "00198" "00374534" "00006" "Familial, autosomal recessive" "" "Bilateral foot drop and high stepping gait, difficulty in getting up from squatting position and weak bilateral interosseous nerve, suggesting axonal neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000270877" "00198" "00375664" "00006" "Familial, autosomal recessive" "" "progressive; intellectual disability/developmental delay; microcephaly; hypophonia, dysarthria; decreased muscle bulk, hypotonia, weakness, tremor, dysmetria, broad-based gait; hyper-reflexia; MRI brain normal" "" "9y" "" "" "" "" "" "" "" "" "" "0000358487" "00244" "00473692" "00006" "Unknown" "34y" "started 10y with distal lower muscle weakness, gait abnormality, walking, running difficulty, foot drop, pes cavus, distal lower muscle wasting, fasciculation, muscle cramp, myopathy and rimmed vacuoles reported in muscle biopsy, myopathy reported in EMG and CPK 315U/L." "" "" "" "" "" "" "" "" "" "myopathy" "" "0000358561" "05123" "00473766" "00006" "Unknown" "46y" "onset 28y with toe walking difficulty; Muscle weakness, mild; EMG-NCV suggestive of restricted form of chronic motor neuronopathy." "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081170" "00081058" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000292320" "00291152" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305583" "00304454" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362776" "00361548" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375728" "00374534" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376861" "00375664" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000475361" "00473692" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475435" "00473766" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081170" "VRK1" "0000362776" "VRK1" "0000375728" "VRK1" ## 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 = 49 "{{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}}" "0000130256" "3" "90" "14" "97342370" "97342370" "subst" "6.11516E-5" "01758" "VRK1_000001" "g.97342370C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.96876033C>T" "" "pathogenic" "ACMG" "0000247238" "0" "10" "14" "97299853" "97299853" "subst" "0.357293" "02330" "VRK1_000003" "g.97299853A>G" "" "" "" "VRK1(NM_003384.3):c.45A>G (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96833516A>G" "" "benign" "" "0000248377" "0" "10" "14" "97299853" "97299853" "subst" "0.357293" "02325" "VRK1_000003" "g.97299853A>G" "" "" "" "VRK1(NM_003384.3):c.45A>G (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96833516A>G" "" "benign" "" "0000256662" "0" "50" "14" "97326936" "97326936" "subst" "0" "01943" "VRK1_000006" "g.97326936A>G" "" "" "" "VRK1(NM_003384.2):c.932A>G (p.Y311C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96860599A>G" "" "VUS" "" "0000311324" "0" "10" "14" "97321689" "97321689" "subst" "0.399901" "02330" "VRK1_000005" "g.97321689C>T" "" "" "" "VRK1(NM_003384.3):c.705C>T (p.G235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96855352C>T" "" "benign" "" "0000313038" "0" "10" "14" "97321689" "97321689" "subst" "0.399901" "02325" "VRK1_000005" "g.97321689C>T" "" "" "" "VRK1(NM_003384.3):c.705C>T (p.G235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96855352C>T" "" "benign" "" "0000319753" "0" "50" "14" "97319259" "97319259" "subst" "2.44561E-5" "01943" "VRK1_000004" "g.97319259C>A" "" "" "" "VRK1(NM_003384.2):c.466C>A (p.Q156K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96852922C>A" "" "VUS" "" "0000345856" "0" "50" "14" "97321607" "97321607" "subst" "0" "02327" "VRK1_000002" "g.97321607G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96855270G>A" "" "VUS" "" "0000553498" "0" "30" "14" "97304085" "97304085" "subst" "0.000108236" "02330" "VRK1_000007" "g.97304085A>G" "" "" "" "VRK1(NM_003384.3):c.161-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96837748A>G" "" "likely benign" "" "0000553500" "0" "10" "14" "97319160" "97319160" "subst" "0.0019134" "01943" "VRK1_000009" "g.97319160G>C" "" "" "" "VRK1(NM_003384.2):c.375-8G>C (p.(=)), VRK1(NM_003384.3):c.375-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96852823G>C" "" "benign" "" "0000553501" "0" "30" "14" "97322483" "97322483" "subst" "0" "01943" "VRK1_000010" "g.97322483T>C" "" "" "" "VRK1(NM_003384.2):c.726T>C (p.G242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96856146T>C" "" "likely benign" "" "0000553502" "0" "50" "14" "97322866" "97322866" "subst" "0" "01943" "VRK1_000011" "g.97322866T>C" "" "" "" "VRK1(NM_003384.2):c.832T>C (p.Y278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96856529T>C" "" "VUS" "" "0000553503" "0" "50" "14" "97322892" "97322892" "subst" "0.000777099" "01943" "VRK1_000012" "g.97322892G>T" "" "" "" "VRK1(NM_003384.2):c.858G>T (p.M286I), VRK1(NM_003384.3):c.858G>T (p.M286I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96856555G>T" "" "VUS" "" "0000615150" "0" "50" "14" "97322892" "97322892" "subst" "0.000777099" "02330" "VRK1_000012" "g.97322892G>T" "" "" "" "VRK1(NM_003384.2):c.858G>T (p.M286I), VRK1(NM_003384.3):c.858G>T (p.M286I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96856555G>T" "" "VUS" "" "0000615151" "0" "50" "14" "97322916" "97322916" "subst" "6.91771E-5" "02330" "VRK1_000014" "g.97322916C>G" "" "" "" "VRK1(NM_003384.3):c.882C>G (p.N294K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96856579C>G" "" "VUS" "" "0000649009" "1" "50" "14" "97322892" "97322892" "subst" "0.000777099" "03575" "VRK1_000012" "g.97322892G>T" "4/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous; {DB:CLININrs139476915}" "Germline" "" "rs139476915" "0" "" "" "g.96856555G>T" "" "VUS" "" "0000657519" "0" "30" "14" "97304113" "97304113" "subst" "0.000191042" "01943" "VRK1_000015" "g.97304113T>G" "" "" "" "VRK1(NM_003384.2):c.175T>G (p.S59A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96837776T>G" "" "likely benign" "" "0000669271" "3" "50" "14" "97322892" "97322892" "subst" "0.000777099" "03575" "VRK1_000012" "g.97322892G>T" "3/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs139476915}" "Germline" "" "rs139476915" "0" "" "" "g.96856555G>T" "" "VUS" "" "0000680091" "0" "30" "14" "97319160" "97319160" "subst" "0.0019134" "02326" "VRK1_000009" "g.97319160G>C" "" "" "" "VRK1(NM_003384.2):c.375-8G>C (p.(=)), VRK1(NM_003384.3):c.375-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691744" "0" "50" "14" "97304102" "97304102" "subst" "8.77855E-6" "02330" "VRK1_000016" "g.97304102A>G" "" "" "" "VRK1(NM_003384.3):c.164A>G (p.D55G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724935" "0" "30" "14" "97319160" "97319160" "subst" "0.0019134" "01804" "VRK1_000009" "g.97319160G>C" "" "" "" "VRK1(NM_003384.2):c.375-8G>C (p.(=)), VRK1(NM_003384.3):c.375-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724936" "0" "30" "14" "97326910" "97326910" "subst" "5.70362E-5" "01943" "VRK1_000017" "g.97326910C>T" "" "" "" "VRK1(NM_003384.2):c.906C>T (p.Y302=), VRK1(NM_003384.3):c.906C>T (p.Y302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763150" "3" "70" "14" "97312451" "97312451" "subst" "0" "00006" "VRK1_000018" "g.97312451C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS4, PM2, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.96846114C>T" "" "likely pathogenic" "ACMG" "0000787079" "3" "70" "14" "97342458" "97342458" "subst" "4.06418E-6" "00006" "VRK1_000019" "g.97342458G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.96876121G>A" "" "likely pathogenic" "" "0000788916" "3" "70" "14" "97342370" "97342370" "subst" "6.11516E-5" "00006" "VRK1_000001" "g.97342370C>T" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "Germline" "" "" "0" "" "" "g.96876033C>T" "" "likely pathogenic" "" "0000806549" "0" "30" "14" "97322567" "97322567" "subst" "8.13729E-6" "02330" "VRK1_000020" "g.97322567T>C" "" "" "" "VRK1(NM_003384.3):c.810T>C (p.Y270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806550" "0" "30" "14" "97327024" "97327024" "subst" "0.000829612" "01943" "VRK1_000021" "g.97327024C>T" "" "" "" "VRK1(NM_003384.2):c.1020C>T (p.D340=), VRK1(NM_003384.3):c.1020C>T (p.D340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853929" "0" "30" "14" "97326910" "97326910" "subst" "5.70362E-5" "02330" "VRK1_000017" "g.97326910C>T" "" "" "" "VRK1(NM_003384.2):c.906C>T (p.Y302=), VRK1(NM_003384.3):c.906C>T (p.Y302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853930" "0" "30" "14" "97327024" "97327024" "subst" "0.000829612" "02326" "VRK1_000021" "g.97327024C>T" "" "" "" "VRK1(NM_003384.2):c.1020C>T (p.D340=), VRK1(NM_003384.3):c.1020C>T (p.D340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863735" "0" "10" "14" "97319160" "97319160" "subst" "0.0019134" "02330" "VRK1_000009" "g.97319160G>C" "" "" "" "VRK1(NM_003384.2):c.375-8G>C (p.(=)), VRK1(NM_003384.3):c.375-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863736" "0" "50" "14" "97321567" "97321567" "subst" "8.12526E-6" "02330" "VRK1_000022" "g.97321567T>G" "" "" "" "VRK1(NM_003384.3):c.583T>G (p.L195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891954" "0" "50" "14" "97313669" "97313669" "subst" "2.43942E-5" "02330" "VRK1_000023" "g.97313669A>G" "" "" "" "VRK1(NM_003384.3):c.362A>G (p.K121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891955" "0" "50" "14" "97319256" "97319256" "subst" "0.000105935" "02330" "VRK1_000024" "g.97319256T>A" "" "" "" "VRK1(NM_003384.3):c.463T>A (p.L155M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891956" "0" "90" "14" "97321567" "97321567" "subst" "8.12526E-6" "02326" "VRK1_000022" "g.97321567T>G" "" "" "" "VRK1(NM_003384.3):c.583T>G (p.L195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891957" "0" "50" "14" "97322590" "97322590" "subst" "0" "01804" "VRK1_000025" "g.97322590A>G" "" "" "" "VRK1(NM_003384.2):c.830+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891958" "0" "50" "14" "97326905" "97326905" "subst" "0.000224128" "02330" "VRK1_000026" "g.97326905A>G" "" "" "" "VRK1(NM_003384.2):c.901A>G (p.(Lys301Glu)), VRK1(NM_003384.3):c.901A>G (p.K301E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914256" "0" "10" "14" "97263929" "97263929" "subst" "0" "02326" "VRK1_000027" "g.97263929T>C" "" "" "" "VRK1(NM_003384.3):c.-6+145T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914257" "0" "10" "14" "97303954" "97303954" "subst" "0" "02326" "VRK1_000028" "g.97303954A>G" "" "" "" "VRK1(NM_003384.3):c.161-145A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914258" "0" "10" "14" "97312642" "97312642" "subst" "0" "02326" "VRK1_000029" "g.97312642G>A" "" "" "" "VRK1(NM_003384.3):c.286+141G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914259" "0" "50" "14" "97319244" "97319244" "subst" "4.07249E-6" "02330" "VRK1_000030" "g.97319244C>T" "" "" "" "VRK1(NM_003384.3):c.451C>T (p.R151W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914260" "0" "30" "14" "97342256" "97342256" "subst" "0" "02326" "VRK1_000031" "g.97342256C>T" "" "" "" "VRK1(NM_003384.3):c.1069-111C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930354" "0" "30" "14" "97312513" "97312513" "subst" "0.000570065" "02326" "VRK1_000032" "g.97312513A>G" "" "" "" "VRK1(NM_003384.3):c.286+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930355" "0" "50" "14" "97326905" "97326905" "subst" "0.000224128" "01804" "VRK1_000026" "g.97326905A>G" "" "" "" "VRK1(NM_003384.2):c.901A>G (p.(Lys301Glu)), VRK1(NM_003384.3):c.901A>G (p.K301E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930356" "0" "30" "14" "97327062" "97327064" "del" "0" "02326" "VRK1_000033" "g.97327062_97327064del" "" "" "" "VRK1(NM_003384.3):c.1058_1060delCAA (p.T353del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001225" "0" "30" "14" "97319487" "97319487" "subst" "4.47744E-5" "01804" "VRK1_000034" "g.97319487A>G" "" "" "" "VRK1(NM_003384.2):c.560A>G (p.(Tyr187Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040190" "0" "50" "14" "97321675" "97321675" "subst" "0" "01804" "VRK1_000035" "g.97321675G>A" "" "" "" "VRK1(NM_003384.3):c.691G>A (p.(Asp231Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069756" "3" "50" "14" "97319439" "97319439" "subst" "" "00006" "chr14_005826" "g.97319439A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.96853102A>G" "SCV006075358.1" "VUS" "ACMG" "0001069830" "0" "90" "14" "97342370" "97342370" "subst" "" "00006" "VRK1_000001" "g.97342370C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PS4_mod, PM2" "Germline" "" "" "0" "" "" "g.96876033C>T" "SCV000999244.1" "pathogenic" "ACMG" "0001070158" "0" "90" "14" "97342370" "97342370" "subst" "" "00006" "VRK1_000001" "g.97342370C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "" "Germline" "" "" "0" "" "" "g.96876033C>T" "" "pathogenic (recessive)" "" ## 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 VRK1 ## Count = 49 "{{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}}" "0000130256" "00022661" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358*)" "" "0000247238" "00022661" "10" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(Ala15=)" "" "0000248377" "00022661" "10" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(Ala15=)" "" "0000256662" "00022661" "50" "932" "0" "932" "0" "c.932A>G" "r.(?)" "p.(Tyr311Cys)" "" "0000311324" "00022661" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Gly235=)" "" "0000313038" "00022661" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Gly235=)" "" "0000319753" "00022661" "50" "466" "0" "466" "0" "c.466C>A" "r.(?)" "p.(Gln156Lys)" "" "0000345856" "00022661" "50" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Glu)" "" "0000553498" "00022661" "30" "161" "-14" "161" "-14" "c.161-14A>G" "r.(=)" "p.(=)" "" "0000553500" "00022661" "10" "375" "-8" "375" "-8" "c.375-8G>C" "r.(=)" "p.(=)" "" "0000553501" "00022661" "30" "726" "0" "726" "0" "c.726T>C" "r.(?)" "p.(Gly242=)" "" "0000553502" "00022661" "50" "832" "0" "832" "0" "c.832T>C" "r.(?)" "p.(Tyr278His)" "" "0000553503" "00022661" "50" "858" "0" "858" "0" "c.858G>T" "r.(?)" "p.(Met286Ile)" "" "0000615150" "00022661" "50" "858" "0" "858" "0" "c.858G>T" "r.(?)" "p.(Met286Ile)" "" "0000615151" "00022661" "50" "882" "0" "882" "0" "c.882C>G" "r.(?)" "p.(Asn294Lys)" "" "0000649009" "00022661" "50" "858" "0" "858" "0" "c.858G>T" "r.(?)" "p.(Met286Ile)" "" "0000657519" "00022661" "30" "175" "0" "175" "0" "c.175T>G" "r.(?)" "p.(Ser59Ala)" "" "0000669271" "00022661" "50" "858" "0" "858" "0" "c.858G>T" "r.(?)" "p.(Met286Ile)" "" "0000680091" "00022661" "30" "375" "-8" "375" "-8" "c.375-8G>C" "r.(=)" "p.(=)" "" "0000691744" "00022661" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Asp55Gly)" "" "0000724935" "00022661" "30" "375" "-8" "375" "-8" "c.375-8G>C" "r.(=)" "p.(=)" "" "0000724936" "00022661" "30" "906" "0" "906" "0" "c.906C>T" "r.(?)" "p.(Tyr302=)" "" "0000763150" "00022661" "70" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Pro79Leu)" "" "0000787079" "00022661" "70" "1159" "1" "1159" "1" "c.1159+1G>A" "r.spl" "p.?" "12i" "0000788916" "00022661" "70" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Ter)" "" "0000806549" "00022661" "30" "810" "0" "810" "0" "c.810T>C" "r.(?)" "p.(Tyr270=)" "" "0000806550" "00022661" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asp340=)" "" "0000853929" "00022661" "30" "906" "0" "906" "0" "c.906C>T" "r.(?)" "p.(Tyr302=)" "" "0000853930" "00022661" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asp340=)" "" "0000863735" "00022661" "10" "375" "-8" "375" "-8" "c.375-8G>C" "r.(=)" "p.(=)" "" "0000863736" "00022661" "50" "583" "0" "583" "0" "c.583T>G" "r.(?)" "p.(Leu195Val)" "" "0000891954" "00022661" "50" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "" "0000891955" "00022661" "50" "463" "0" "463" "0" "c.463T>A" "r.(?)" "p.(Leu155Met)" "" "0000891956" "00022661" "90" "583" "0" "583" "0" "c.583T>G" "r.(?)" "p.(Leu195Val)" "" "0000891957" "00022661" "50" "830" "3" "830" "3" "c.830+3A>G" "r.spl?" "p.?" "" "0000891958" "00022661" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Lys301Glu)" "" "0000914256" "00022661" "10" "-6" "145" "-6" "145" "c.-6+145T>C" "r.(=)" "p.(=)" "" "0000914257" "00022661" "10" "161" "-145" "161" "-145" "c.161-145A>G" "r.(=)" "p.(=)" "" "0000914258" "00022661" "10" "286" "141" "286" "141" "c.286+141G>A" "r.(=)" "p.(=)" "" "0000914259" "00022661" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Trp)" "" "0000914260" "00022661" "30" "1069" "-111" "1069" "-111" "c.1069-111C>T" "r.(=)" "p.(=)" "" "0000930354" "00022661" "30" "286" "12" "286" "12" "c.286+12A>G" "r.(=)" "p.(=)" "" "0000930355" "00022661" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Lys301Glu)" "" "0000930356" "00022661" "30" "1058" "0" "1060" "0" "c.1058_1060del" "r.(?)" "p.(Thr353del)" "" "0001001225" "00022661" "30" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Tyr187Cys)" "" "0001040190" "00022661" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asp231Asn)" "" "0001069756" "00022661" "50" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171Arg)" "" "0001069830" "00022661" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Ter)" "" "0001070158" "00022661" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000081170" "0000130256" "0000292320" "0000649009" "0000305583" "0000669271" "0000362776" "0000763150" "0000375728" "0000787079" "0000376861" "0000788916" "0000475361" "0001069756" "0000475435" "0001069830" "0000475435" "0001070158"