### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPRL3) # 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}}" "NPRL3" "nitrogen permease regulator-like 3 (S. cerevisiae)" "16" "p13.3" "unknown" "NG_029669.1" "UD_136021121081" "" "https://www.LOVD.nl/NPRL3" "" "1" "14124" "8131" "600928" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NPRL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-15 13:37:13" "00000" "2026-01-20 18:57:21" ## 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}}" "00025406" "NPRL3" "transcript variant 1" "001" "NM_001077350.2" "" "NP_001070818.1" "" "" "" "-124" "2613" "1709" "188697" "135800" "00006" "2019-05-15 13:31:46" "" "" ## 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" "02650" "FCORD2" "dysplasia, cortical, focal type II (FCORD-2)" "" "607341" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05441" "NS1" "Noonan syndrome, type 1 (NS1)" "AD" "163950" "" "autosomal dominant" "" "00006" "2018-06-20 14:58:17" "00006" "2021-12-10 21:51:32" "06297" "FFEVF3" "Epilepsy, familial focal, with variable foci 3" "AD" "617118" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NPRL3" "06297" ## 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}}" "00226327" "" "" "" "1" "" "03224" "" "" "F" "?" "" "" "0" "" "" "" "patient3" "00291373" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291398" "" "" "" "165" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304505" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00406434" "" "" "" "1" "" "01164" "" "" "M" "?" "Croatia (Hrvatska)" "" "0" "" "" "" "192016" "00431197" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "212980" "00435428" "" "" "" "1" "" "00006" "{PMID:Yin 2023:36604176}" "3-generation family, 3 affected (F, 2M)" "F;M" "" "China" "" "0" "" "" "" "family" "00461024" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00226327" "02650" "00291373" "00198" "00291398" "00198" "00304505" "00198" "00406434" "06297" "00431197" "05441" "00431197" "06297" "00435428" "04270" "00461024" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02650, 04270, 05441, 06297 ## Count = 2 "{{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}}" "0000298921" "06297" "00406434" "01164" "Familial, autosomal dominant" "16y" "seizure, father and brother also affected" "" "" "" "" "" "" "" "" "" "" "" "0000321806" "05441" "00431197" "01164" "Unknown" "06y" "Seizure, Failure to thrive, Short stature, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000227396" "00226327" "1" "03224" "03224" "2019-03-08 12:16:48" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000292541" "00291373" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292566" "00291398" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305634" "00304505" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000407676" "00406434" "1" "01164" "01164" "2022-03-30 10:59:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000432608" "00431197" "1" "01164" "01164" "2023-02-01 14:37:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000436908" "00435428" "1" "00006" "00006" "2023-07-25 16:08:26" "" "" "SEQ" "DNA" "" "gene panel" "0000462656" "00461024" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000227396" "NPRL3" "0000407676" "NPRL3" "0000432608" "NPRL3" "0000436908" "NPRL3" "0000462656" "NPRL3" ## 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 = 56 "{{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}}" "0000300408" "0" "30" "16" "138725" "138725" "subst" "0.000726934" "02326" "NPRL3_000001" "g.138725T>A" "" "" "" "NPRL3(NM_001077350.3):c.1516A>T (p.N506Y), NPRL3(NM_001243249.1):c.1440A>T (p.Q480H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88726T>A" "" "likely benign" "" "0000304508" "0" "30" "16" "142602" "142602" "subst" "0" "01943" "NPRL3_000002" "g.142602C>A" "" "" "" "NPRL3(NM_001077350.2):c.1153G>T (p.V385L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92604C>A" "" "likely benign" "" "0000304509" "0" "10" "16" "160514" "160514" "subst" "0.000705041" "01943" "NPRL3_000003" "g.160514C>G" "" "" "" "NPRL3(NM_001077350.2):c.629+9G>C, NPRL3(NM_001243249.1):c.554+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110516C>G" "" "benign" "" "0000324346" "0" "50" "16" "188346" "188377" "del" "0" "01804" "NPRL3_000004" "g.188346_188377del" "" "" "" "NPRL3(NM_001039476.2):c.-401_-370del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138347_138378del" "" "VUS" "" "0000465646" "0" "70" "16" "150455" "150456" "dup" "0" "03224" "NPRL3_000005" "g.150455_150456dup" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.100457_100458dup" "" "likely pathogenic" "" "0000556601" "0" "50" "16" "139752" "139752" "subst" "0" "02325" "MPG_000004" "g.139752C>T" "" "" "" "NPRL3(NM_001243249.2):c.1235G>A (p.R412H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89754C>T" "" "VUS" "" "0000556602" "0" "30" "16" "139764" "139764" "subst" "8.88636E-5" "02325" "MPG_000005" "g.139764C>T" "" "" "" "NPRL3(NM_001077350.2):c.1298G>A (p.R433Q), NPRL3(NM_001077350.3):c.1298G>A (p.(Arg433Gln)), NPRL3(NM_001243249.2):c.1223G>A (p.R408Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89766C>T" "" "likely benign" "" "0000556604" "0" "50" "16" "139847" "139847" "subst" "0" "02327" "MPG_000006" "g.139847C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89849C>G" "" "VUS" "" "0000556635" "0" "30" "16" "143224" "143224" "subst" "0.00180693" "01943" "MPG_000007" "g.143224C>A" "" "" "" "NPRL3(NM_001243249.1):c.949G>T (p.V317L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93226C>A" "" "likely benign" "" "0000556636" "0" "30" "16" "143224" "143224" "subst" "0.00180693" "02326" "MPG_000007" "g.143224C>A" "" "" "" "NPRL3(NM_001243249.1):c.949G>T (p.V317L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93226C>A" "" "likely benign" "" "0000556637" "0" "30" "16" "143225" "143225" "subst" "9.58528E-5" "02326" "MPG_000008" "g.143225G>A" "" "" "" "NPRL3(NM_001243249.1):c.948C>T (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93227G>A" "" "likely benign" "" "0000556884" "0" "30" "16" "160514" "160514" "subst" "0.000705041" "02326" "NPRL3_000003" "g.160514C>G" "" "" "" "NPRL3(NM_001077350.2):c.629+9G>C, NPRL3(NM_001243249.1):c.554+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110516C>G" "" "likely benign" "" "0000557007" "0" "30" "16" "175096" "175096" "del" "0" "01804" "MPG_000012" "g.175096del" "" "" "" "NPRL3(NM_001243247.1):c.-183-4delT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125097del" "" "likely benign" "" "0000615705" "0" "30" "16" "148309" "148309" "subst" "0.000437553" "02326" "MPG_000014" "g.148309A>C" "" "" "" "NPRL3(NM_001243249.1):c.693-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98311A>C" "" "likely benign" "" "0000615808" "0" "50" "16" "169117" "169117" "subst" "0.000326184" "01804" "MPG_000015" "g.169117A>C" "" "" "" "NPRL3(NM_001077350.2):c.318+8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119118A>C" "" "VUS" "" "0000649230" "1" "10" "16" "142714" "142714" "subst" "0.0199129" "03575" "NPRL3_000006" "g.142714C>T" "49/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous, no homozygous; {DB:CLININrs1128426}" "Germline" "" "rs1128426" "0" "" "" "g.92716C>T" "" "benign" "" "0000649255" "1" "10" "16" "180529" "180529" "subst" "0.0238925" "03575" "NPRL3_000007" "g.180529G>A" "165/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "165 heterozygous; {DB:CLININrs75187722}" "Germline" "" "rs75187722" "0" "" "" "g.130530G>A" "" "benign" "" "0000657732" "0" "50" "16" "139764" "139764" "subst" "8.88636E-5" "01943" "MPG_000005" "g.139764C>T" "" "" "" "NPRL3(NM_001077350.2):c.1298G>A (p.R433Q), NPRL3(NM_001077350.3):c.1298G>A (p.(Arg433Gln)), NPRL3(NM_001243249.2):c.1223G>A (p.R408Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89766C>T" "" "VUS" "" "0000657733" "0" "50" "16" "139798" "139798" "subst" "4.11564E-5" "01943" "MPG_000016" "g.139798G>A" "" "" "" "NPRL3(NM_001243249.1):c.1189C>T (p.R397C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89800G>A" "" "VUS" "" "0000669322" "3" "10" "16" "180529" "180529" "subst" "0.0238925" "03575" "NPRL3_000007" "g.180529G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs75187722}" "Germline" "" "rs75187722" "0" "" "" "g.130530G>A" "" "benign" "" "0000680386" "0" "30" "16" "139865" "139865" "subst" "0.00024782" "02326" "MPG_000017" "g.139865C>T" "" "" "" "NPRL3(NM_001243249.1):c.1122G>A (p.Q374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691935" "0" "70" "16" "136870" "136870" "subst" "0" "02327" "MPG_000018" "g.136870C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691958" "0" "10" "16" "175094" "175096" "del" "0" "02325" "MPG_000010" "g.175094_175096del" "" "" "" "NPRL3(NM_001077350.3):c.188+5443_188+5445delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691959" "0" "10" "16" "175096" "175096" "dup" "0" "02325" "MPG_000013" "g.175096dup" "" "" "" "NPRL3(NM_001077350.3):c.188+5445dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725441" "0" "50" "16" "136847" "136847" "subst" "8.63842E-5" "02329" "MPG_000002" "g.136847G>A" "" "" "" "NPRL3(NM_001243248.1):c.1492C>T (p.R498C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725483" "0" "30" "16" "162721" "162721" "subst" "0.000341165" "02326" "MPG_000019" "g.162721G>A" "" "" "" "NPRL3(NM_001077350.3):c.447C>T (p.I149=), NPRL3(NM_001243248.1):c.372C>T (p.I124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807059" "0" "50" "16" "136771" "136771" "subst" "5.79488E-5" "01943" "MPG_000020" "g.136771C>T" "" "" "" "NPRL3(NM_001243249.1):c.1567G>A (p.G523S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807066" "0" "30" "16" "143225" "143225" "subst" "9.58528E-5" "01943" "MPG_000008" "g.143225G>A" "" "" "" "NPRL3(NM_001243249.1):c.948C>T (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807109" "0" "50" "16" "162740" "162740" "subst" "1.23051E-5" "02327" "MPG_000021" "g.162740T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000844379" "11" "70" "16" "167375" "167375" "subst" "0" "01164" "NPRL3_000008" "g.167375C>T" "" "" "" "" "ACMG: PVS1_STR, PS4_SUP, PM2_SUP; variant also present in affected father and brother" "Germline" "yes" "" "0" "" "" "g.117376C>T" "" "likely pathogenic (dominant)" "ACMG" "0000854301" "0" "30" "16" "162729" "162729" "subst" "7.79839E-5" "02325" "MPG_000022" "g.162729G>A" "" "" "" "NPRL3(NM_001077350.3):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854312" "0" "50" "16" "180582" "180582" "subst" "0" "02329" "MPG_000023" "g.180582G>A" "" "" "" "NPRL3(NM_001243249.1):c.127C>T (p.R43C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864333" "0" "30" "16" "162721" "162721" "subst" "0.000341165" "01943" "MPG_000019" "g.162721G>A" "" "" "" "NPRL3(NM_001077350.3):c.447C>T (p.I149=), NPRL3(NM_001243248.1):c.372C>T (p.I124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864344" "0" "30" "16" "169117" "169117" "subst" "0.000326184" "01943" "MPG_000015" "g.169117A>C" "" "" "" "NPRL3(NM_001077350.2):c.318+8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892521" "0" "50" "16" "139753" "139753" "subst" "3.61559E-5" "02325" "MPG_000024" "g.139753G>A" "" "" "" "NPRL3(NM_001077350.3):c.1309C>T (p.R437C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892529" "0" "50" "16" "148162" "148162" "subst" "2.03373E-5" "02329" "MPG_000025" "g.148162G>A" "" "" "" "NPRL3(NM_001243249.1):c.830C>T (p.A277V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892530" "0" "70" "16" "148181" "148181" "subst" "0" "02327" "MPG_000026" "g.148181G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892536" "0" "30" "16" "150392" "150392" "subst" "9.4526E-5" "02326" "MPG_000027" "g.150392C>T" "" "" "" "NPRL3(NM_001077350.3):c.745G>A (p.E249K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892580" "0" "30" "16" "162726" "162726" "subst" "0.000262646" "02325" "MPG_000028" "g.162726G>A" "" "" "" "NPRL3(NM_001077350.3):c.442C>T (p.R148C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914485" "0" "90" "16" "162724" "162724" "dup" "0" "02325" "MPG_000029" "g.162724dup" "" "" "" "NPRL3(NM_001077350.3):c.444dupT (p.I149Yfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918147" "0" "70" "16" "169198" "169198" "dup" "0" "01164" "NPRL3_000009" "g.169198dup" "" "" "" "" "ACMG: PVS1, PM2_SUP; found together in individual with pathogenic PTPN11 variant c.794G>A p.(Arg265Gln) heterozygot" "Germline" "?" "" "0" "" "" "g.119199dup" "" "likely pathogenic (dominant)" "ACMG" "0000920661" "0" "70" "16" "180520" "180520" "subst" "0" "03779" "NPRL3_000010" "g.180520C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000926156" "0" "70" "16" "180593" "180593" "subst" "0" "02326" "MPG_000030" "g.180593G>C" "" "" "" "NPRL3(NM_001077350.3):c.119-3C>G, NPRL3(NM_001243249.2):c.119-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926157" "0" "50" "16" "180593" "180593" "subst" "0" "02329" "MPG_000030" "g.180593G>C" "" "" "" "NPRL3(NM_001077350.3):c.119-3C>G, NPRL3(NM_001243249.2):c.119-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931588" "11" "50" "16" "162729" "162729" "subst" "7.79839E-5" "00006" "MPG_000022" "g.162729G>A" "" "{PMID:Yin 2023:36604176}" "" "" "" "Germline" "no" "" "0" "" "" "g.112730G>A" "" "VUS" "" "0000981593" "0" "50" "16" "138725" "138725" "subst" "0.000726934" "02325" "NPRL3_000001" "g.138725T>A" "" "" "" "NPRL3(NM_001077350.3):c.1516A>T (p.N506Y), NPRL3(NM_001243249.1):c.1440A>T (p.Q480H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001883" "0" "30" "16" "138677" "138677" "subst" "0.000237485" "02326" "MPG_000031" "g.138677A>G" "" "" "" "NPRL3(NM_001077350.3):c.1544+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001890" "0" "30" "16" "142658" "142658" "subst" "0" "01804" "MPG_000032" "g.142658G>A" "" "" "" "NPRL3(NM_001243247.1):c.863C>T (p.(Thr288Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002003" "0" "90" "16" "188182" "188182" "subst" "0" "02326" "HBZ_000002" "g.188182G>A" "" "" "" "NPRL3(NM_001077350.3):c.85C>T (p.Q29*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022183" "0" "50" "16" "167376" "167376" "subst" "0" "04796" "NPRL3_000011" "g.167376T>C" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.117377T>C" "" "VUS" "" "0001040764" "0" "30" "16" "138755" "138755" "subst" "0.00265199" "01804" "MPG_000033" "g.138755C>T" "" "" "" "NPRL3(NM_001077350.3):c.1483G>A (p.(Ala495Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040769" "0" "30" "16" "139764" "139764" "subst" "8.88636E-5" "01804" "MPG_000005" "g.139764C>T" "" "" "" "NPRL3(NM_001077350.2):c.1298G>A (p.R433Q), NPRL3(NM_001077350.3):c.1298G>A (p.(Arg433Gln)), NPRL3(NM_001243249.2):c.1223G>A (p.R408Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040770" "0" "30" "16" "139784" "139784" "subst" "0.00649234" "01804" "MPG_000034" "g.139784G>C" "" "" "" "NPRL3(NM_001077350.3):c.1278C>G (p.(Asp426Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040861" "0" "50" "16" "188263" "188263" "subst" "0" "01804" "HBZ_000003" "g.188263G>A" "" "" "" "NPRL3(NM_001077350.3):c.4C>T (p.(Arg2Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055283" "0" "50" "16" "188367" "188367" "subst" "0" "01804" "HBZ_000006" "g.188367T>G" "" "" "" "NPRL3(NM_001243248.2):c.-69A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066318" "0" "30" "16" "169157" "169157" "subst" "5.30721E-5" "02325" "MPG_000035" "g.169157G>A" "" "" "" "" "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 NPRL3 ## Count = 56 "{{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}}" "0000300408" "00025406" "30" "1516" "0" "1516" "0" "c.1516A>T" "r.(?)" "p.(Asn506Tyr)" "" "0000304508" "00025406" "30" "1153" "0" "1153" "0" "c.1153G>T" "r.(?)" "p.(Val385Leu)" "" "0000304509" "00025406" "10" "629" "9" "629" "9" "c.629+9G>C" "r.(=)" "p.(=)" "" "0000324346" "00025406" "50" "-67" "-2" "-38" "0" "c.-67-2_-38del" "r.spl?" "p.?" "" "0000465646" "00025406" "90" "682" "0" "683" "0" "c.682_683dup" "r.(?)" "p.(Ser228Argfs*16)" "" "0000556601" "00025406" "50" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437His)" "" "0000556602" "00025406" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0000556604" "00025406" "50" "1215" "0" "1215" "0" "c.1215G>C" "r.(?)" "p.(Gln405His)" "" "0000556635" "00025406" "30" "1024" "0" "1024" "0" "c.1024G>T" "r.(?)" "p.(Val342Leu)" "" "0000556636" "00025406" "30" "1024" "0" "1024" "0" "c.1024G>T" "r.(?)" "p.(Val342Leu)" "" "0000556637" "00025406" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ser341=)" "" "0000556884" "00025406" "30" "629" "9" "629" "9" "c.629+9G>C" "r.(=)" "p.(=)" "" "0000557007" "00025406" "30" "188" "5445" "188" "5445" "c.188+5445del" "r.(=)" "p.(=)" "" "0000615705" "00025406" "30" "768" "-10" "768" "-10" "c.768-10T>G" "r.(=)" "p.(=)" "" "0000615808" "00025406" "50" "318" "8" "318" "8" "c.318+8T>G" "r.(=)" "p.(=)" "" "0000649230" "00025406" "10" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Pro347=)" "" "0000649255" "00025406" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Gly60=)" "" "0000657732" "00025406" "50" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0000657733" "00025406" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Cys)" "" "0000669322" "00025406" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Gly60=)" "" "0000680386" "00025406" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Gln399=)" "" "0000691935" "00025406" "70" "1545" "-1" "1545" "-1" "c.1545-1G>C" "r.spl?" "p.?" "" "0000691958" "00025406" "10" "188" "5443" "188" "5445" "c.188+5443_188+5445del" "r.(=)" "p.(=)" "" "0000691959" "00025406" "10" "188" "5445" "188" "5445" "c.188+5445dup" "r.(=)" "p.(=)" "" "0000725441" "00025406" "50" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523Cys)" "" "0000725483" "00025406" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ile149=)" "" "0000807059" "00025406" "50" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000807066" "00025406" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ser341=)" "" "0000807109" "00025406" "50" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(His143Arg)" "" "0000844379" "00025406" "70" "319" "-1" "319" "-1" "c.319-1G>A" "r.spl" "p.?" "" "0000854301" "00025406" "30" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000854312" "00025406" "50" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "" "0000864333" "00025406" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ile149=)" "" "0000864344" "00025406" "30" "318" "8" "318" "8" "c.318+8T>G" "r.(=)" "p.(=)" "" "0000892521" "00025406" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Cys)" "" "0000892529" "00025406" "50" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "" "0000892530" "00025406" "70" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Gln296*)" "" "0000892536" "00025406" "30" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Glu249Lys)" "" "0000892580" "00025406" "30" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "0000914485" "00025406" "90" "444" "0" "444" "0" "c.444dup" "r.(?)" "p.(Ile149Tyrfs*28)" "" "0000918147" "00025406" "70" "249" "0" "249" "0" "c.249dup" "r.(?)" "p.(Phe84Ilefs*2)" "" "0000920661" "00025406" "70" "188" "1" "188" "1" "c.188+1G>T" "r.(?)" "p.(?)" "" "0000926156" "00025406" "70" "119" "-3" "119" "-3" "c.119-3C>G" "r.spl?" "p.?" "" "0000926157" "00025406" "50" "119" "-3" "119" "-3" "c.119-3C>G" "r.spl?" "p.?" "" "0000931588" "00025406" "50" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000981593" "00025406" "50" "1516" "0" "1516" "0" "c.1516A>T" "r.(?)" "p.(Asn506Tyr)" "" "0001001883" "00025406" "30" "1543" "20" "1543" "20" "c.1543+20T>C" "r.(=)" "p.(=)" "" "0001001890" "00025406" "30" "1097" "0" "1097" "0" "c.1097C>T" "r.(?)" "p.?" "" "0001002003" "00025406" "90" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.?" "" "0001022183" "00025406" "50" "319" "-2" "319" "-2" "c.319-2A>G" "r.[319_393del,=]" "p.Ile107_Arg131del" "4i" "0001040764" "00025406" "30" "1485" "0" "1485" "0" "c.1485G>A" "r.(?)" "p.?" "" "0001040769" "00025406" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433Gln)" "" "0001040770" "00025406" "30" "1278" "0" "1278" "0" "c.1278C>G" "r.(?)" "p.?" "" "0001040861" "00025406" "50" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.?" "" "0001055283" "00025406" "50" "-67" "-34" "-67" "-34" "c.-67-34A>C" "r.(=)" "p.(=)" "" "0001066318" "00025406" "30" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000227396" "0000465646" "0000292541" "0000649230" "0000292566" "0000649255" "0000305634" "0000669322" "0000407676" "0000844379" "0000432608" "0000918147" "0000436908" "0000931588" "0000462656" "0001022183"