### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRICKLE2) # 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}}" "PRICKLE2" "prickle homolog 2 (Drosophila)" "3" "p14.3" "unknown" "NG_031930.1" "UD_132609747351" "" "https://www.LOVD.nl/PRICKLE2" "" "1" "20340" "166336" "608501" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PRICKLE2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-01 10:25:54" "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}}" "00016810" "PRICKLE2" "prickle homolog 2 (Drosophila)" "001" "NM_198859.3" "" "NP_942559.1" "" "" "" "-586" "7736" "2535" "64211131" "64079526" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00116850" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_19:0/1:CONTROL" "00116881" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_267:0/1:CONTROL" "00116914" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_334:0/1:CONTROL" "00116991" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_511:0/1:CONTROL" "00117080" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_683:0/1:TYPICAL_RE" "00293463" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334900" "" "" "" "3" "" "00006" "{PMID:Tao 2011:21276947}, {PMID:Sandford 2016:26942291}" "2-generation family, affected sister/brother and sibling (of sister)" "F" "" "United States" "" "0" "" "" "" "Pat4" "00334905" "" "" "" "1" "" "00006" "{PMID:Tao 2011:21276947}" "" "M" "" "United States" "" "0" "" "" "" "Pat5" "00334909" "" "" "" "1" "" "00006" "{PMID:Tao 2011:21276947}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00334912" "" "" "00334900" "1" "" "00006" "{PMID:Sandford 2016:26942291}" "sibling patient 4" "M" "" "United States" "" "0" "" "" "" "Pat4-sib" "00374817" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1931" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00116850" "00000" "00116881" "00000" "00116914" "00000" "00116991" "00000" "00117080" "05315" "00293463" "00198" "00334900" "04270" "00334905" "04270" "00334909" "04270" "00334912" "04270" "00374817" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04270, 05315 ## 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}}" "0000092342" "05315" "00117080" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000252685" "04270" "00334900" "00006" "Unknown" "" "myoclonic seizures, generalized EEG pattern, ataxia; brother with same variants and similar clinical phenotype with myoclonic seizures and generalized discharges" "" "" "" "" "" "" "" "" "" "" "" "0000252686" "04270" "00334905" "00006" "Unknown" "" "myoclonic seizures, generalized EEG pattern" "" "" "" "" "" "" "" "" "" "" "" "0000252687" "04270" "00334909" "00006" "Unknown" "" "developmental delay, epilepsy, autisic disorder" "" "" "" "" "" "" "" "" "" "" "" "0000252688" "04270" "00334912" "00006" "Unknown" "" "see paper; ..., atypical Unverricht Lundborg disease (early-onset myoclonus epilepsy, ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000270027" "00198" "00374817" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, autism spectrum disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117318" "00116850" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117349" "00116881" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117382" "00116914" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117459" "00116991" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117553" "00117080" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000294631" "00293463" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336129" "00334900" "1" "00006" "00006" "2021-03-02 12:21:57" "" "" "SEQ" "DNA" "" "" "0000336134" "00334905" "1" "00006" "00006" "2021-03-02 12:29:51" "" "" "SEQ" "DNA" "" "" "0000336138" "00334909" "1" "00006" "00006" "2021-03-02 12:47:01" "" "" "arrayCGH" "DNA" "" "" "0000336141" "00334912" "1" "00006" "00006" "2021-03-02 12:59:04" "" "" "SEQ" "DNA" "" "" "0000376011" "00374817" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000336129" "PRICKLE2" "0000336134" "PRICKLE2" "0000336138" "PRICKLE2" "0000336141" "POLG" "0000336141" "PRICKLE2" "0000376011" "PRICKLE2" ## 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 = 44 "{{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}}" "0000188163" "0" "50" "3" "64142993" "64142993" "subst" "0.000257281" "02192" "PRICKLE2_000004" "g.64142993C>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202025796" "0" "" "" "g.64157317C>A" "" "VUS" "" "0000188194" "0" "50" "3" "64142911" "64142911" "subst" "3.65952E-5" "02192" "PRICKLE2_000003" "g.64142911T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs188632189" "0" "" "" "g.64157235T>C" "" "VUS" "" "0000188227" "0" "50" "3" "64184541" "64184541" "subst" "1.2185E-5" "02192" "PRICKLE2_000005" "g.64184541C>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.64198865C>G" "" "VUS" "" "0000188304" "0" "50" "3" "64085349" "64085349" "subst" "0" "02192" "PRICKLE2_000001" "g.64085349C>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.64099673C>A" "" "VUS" "" "0000188393" "0" "50" "3" "64132852" "64132852" "subst" "0.000443237" "02192" "PRICKLE2_000002" "g.64132852C>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202170644" "0" "" "" "g.64147176C>G" "" "VUS" "" "0000248189" "0" "10" "3" "64133350" "64133350" "subst" "0.995184" "02325" "PRICKLE2_000011" "g.64133350A>G" "" "" "" "PRICKLE2(NM_198859.4):c.816T>C (p.D272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64147674A>G" "" "benign" "" "0000250892" "0" "10" "3" "64133350" "64133350" "subst" "0.995184" "02326" "PRICKLE2_000011" "g.64133350A>G" "" "" "" "PRICKLE2(NM_198859.4):c.816T>C (p.D272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64147674A>G" "" "benign" "" "0000252078" "0" "30" "3" "64184325" "64184325" "subst" "0" "02326" "PRICKLE2_000019" "g.64184325A>C" "" "" "" "PRICKLE2(NM_198859.4):c.144+135T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64198649A>C" "" "likely benign" "" "0000252079" "0" "30" "3" "64184450" "64184450" "subst" "0.00196657" "02326" "PRICKLE2_000017" "g.64184450A>G" "" "" "" "PRICKLE2(NM_198859.4):c.144+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64198774A>G" "" "likely benign" "" "0000301186" "0" "30" "3" "64184685" "64184685" "subst" "0" "02326" "PRICKLE2_000018" "g.64184685C>T" "" "" "" "PRICKLE2(NM_198859.4):c.-40-42G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64199009C>T" "" "likely benign" "" "0000301187" "0" "30" "3" "64133075" "64133075" "subst" "0.000134106" "02326" "PRICKLE2_000009" "g.64133075C>T" "" "" "" "PRICKLE2(NM_198859.4):c.1091G>A (p.R364Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64147399C>T" "" "likely benign" "" "0000301188" "0" "30" "3" "64132852" "64132852" "subst" "0.000443237" "02326" "PRICKLE2_000002" "g.64132852C>G" "" "" "" "PRICKLE2(NM_198859.4):c.1314G>C (p.Q438H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64147176C>G" "" "likely benign" "" "0000301189" "0" "30" "3" "64132564" "64132564" "subst" "0.000154366" "02326" "PRICKLE2_000008" "g.64132564C>T" "" "" "" "PRICKLE2(NM_198859.4):c.1602G>A (p.T534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64146888C>T" "" "likely benign" "" "0000301190" "0" "30" "3" "64085620" "64085620" "subst" "0.000115187" "02326" "PRICKLE2_000007" "g.64085620G>A" "" "" "" "PRICKLE2(NM_198859.4):c.1661-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64099944G>A" "" "likely benign" "" "0000301191" "0" "30" "3" "64085259" "64085259" "subst" "4.0701E-6" "02326" "PRICKLE2_000006" "g.64085259C>T" "" "" "" "PRICKLE2(NM_198859.4):c.2003G>A (p.R668H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64099583C>T" "" "likely benign" "" "0000301192" "0" "30" "3" "64148707" "64148707" "subst" "1.21828E-5" "02326" "PRICKLE2_000016" "g.64148707C>T" "" "" "" "PRICKLE2(NM_198859.4):c.243G>A (p.P81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64163031C>T" "" "likely benign" "" "0000301193" "0" "10" "3" "64145759" "64145759" "subst" "0.333805" "02326" "PRICKLE2_000015" "g.64145759T>C" "" "" "" "PRICKLE2(NM_198859.4):c.259-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64160083T>C" "" "benign" "" "0000301194" "0" "10" "3" "64143135" "64143135" "subst" "0" "02326" "PRICKLE2_000014" "g.64143135C>T" "" "" "" "PRICKLE2(NM_198859.4):c.397-94G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64157459C>T" "" "benign" "" "0000301195" "0" "30" "3" "64142981" "64142981" "subst" "0.00132981" "02326" "PRICKLE2_000013" "g.64142981C>T" "" "" "" "PRICKLE2(NM_198859.4):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64157305C>T" "" "likely benign" "" "0000301196" "0" "10" "3" "64142859" "64142859" "subst" "0.201003" "02326" "PRICKLE2_000012" "g.64142859C>T" "" "" "" "PRICKLE2(NM_198859.4):c.579G>A (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64157183C>T" "" "benign" "" "0000301197" "0" "30" "3" "64133216" "64133216" "subst" "7.36329E-5" "02326" "PRICKLE2_000010" "g.64133216T>C" "" "" "" "PRICKLE2(NM_198859.4):c.950A>G (p.N317S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64147540T>C" "" "likely benign" "" "0000651320" "1" "50" "3" "64142981" "64142981" "subst" "0.00132981" "03575" "PRICKLE2_000013" "g.64142981C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs139747674}" "Germline" "" "rs139747674" "0" "" "" "g.64157305C>T" "" "VUS" "" "0000655013" "0" "30" "3" "64133384" "64133384" "subst" "0.0018436" "02326" "PRICKLE2_000021" "g.64133384A>G" "" "" "" "PRICKLE2(NM_198859.4):c.788-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64147708A>G" "" "likely benign" "" "0000677079" "0" "30" "3" "64132639" "64132639" "subst" "0.000633786" "01943" "PRICKLE2_000022" "g.64132639C>T" "" "" "" "PRICKLE2(NM_198859.3):c.1527G>A (p.E509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677080" "0" "50" "3" "64142957" "64142957" "subst" "2.03444E-5" "02325" "PRICKLE2_000023" "g.64142957C>T" "" "" "" "PRICKLE2(NM_198859.4):c.481G>A (p.V161I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689141" "0" "30" "3" "64148809" "64148809" "subst" "0.000256035" "02325" "PRICKLE2_000024" "g.64148809A>C" "" "" "" "PRICKLE2(NM_198859.4):c.145-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719596" "0" "30" "3" "64085159" "64085159" "subst" "0.000506482" "02326" "PRICKLE2_000025" "g.64085159C>A" "" "" "" "PRICKLE2(NM_198859.4):c.2103G>T (p.L701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719597" "0" "30" "3" "64133194" "64133194" "subst" "0.000110207" "02326" "PRICKLE2_000026" "g.64133194G>A" "" "" "" "PRICKLE2(NM_198859.4):c.972C>T (p.S324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719598" "0" "50" "3" "64184482" "64184482" "subst" "0" "02329" "PRICKLE2_000020" "g.64184482G>A" "" "" "" "PRICKLE2(NM_198859.4):c.122C>T (p.P41L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735202" "2" "90" "3" "64142995" "64142995" "subst" "4.08227E-6" "00006" "PRICKLE2_000027" "g.64142995C>T" "" "{PMID:Tao 2011:21276947}, {PMID:Sandford 2016:26942291}" "" "[443G>A;457G>A]" "variant classification questioned by Sandford 2016; mapped to opposite chromosome by Sandford 2016" "Germline" "" "" "0" "" "" "" "" "VUS (!)" "" "0000735205" "1" "90" "3" "64142981" "64142981" "subst" "0.00132981" "00006" "PRICKLE2_000013" "g.64142981C>T" "" "{PMID:Tao 2011:21276947}, {PMID:Sandford 2016:26942291}" "" "[443G>A;457G>A]" "variant classification questioned by Sandford 2016" "Germline" "" "" "0" "" "" "" "" "VUS (!)" "" "0000735209" "0" "90" "3" "64085449" "64085449" "subst" "1.21855E-5" "00006" "PRICKLE2_000028" "g.64085449C>A" "" "{PMID:Tao 2011:21276947}, {PMID:Sandford 2016:26942291}" "" "" "variant classification questioned by Sandford 2016" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS (!)" "" "0000735215" "0" "90" "3" "62690487" "64915076" "del" "0" "00006" "PRICKLE2_000029" "g.(?_62690487)_(64915076_?)del" "" "{PMID:Tao 2011:21276947}" "" "hg18 chr3:62,665,527–64,890,116" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000735227" "1" "50" "3" "64142981" "64142981" "subst" "0.00132981" "00006" "PRICKLE2_000013" "g.64142981C>T" "" "{PMID:Sandford 2016:26942291}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000735228" "2" "50" "3" "64142995" "64142995" "subst" "4.08227E-6" "00006" "PRICKLE2_000027" "g.64142995C>T" "" "{PMID:Sandford 2016:26942291}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000787362" "0" "50" "3" "64133283" "64133283" "subst" "0" "00006" "PRICKLE2_000030" "g.64133283G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs776167467" "0" "" "" "g.64147607G>A" "" "VUS" "" "0000801363" "0" "30" "3" "64133068" "64133068" "subst" "1.62526E-5" "01943" "PRICKLE2_000031" "g.64133068T>G" "" "" "" "PRICKLE2(NM_198859.3):c.1098A>C (p.S366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801364" "0" "30" "3" "64145745" "64145745" "subst" "0.000219327" "01943" "PRICKLE2_000032" "g.64145745A>G" "" "" "" "PRICKLE2(NM_198859.3):c.267T>C (p.Y89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859123" "0" "30" "3" "64138955" "64138955" "subst" "0.000491506" "01943" "PRICKLE2_000033" "g.64138955G>A" "" "" "" "PRICKLE2(NM_198859.3):c.690C>T (p.G230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923988" "0" "50" "3" "64132648" "64132653" "del" "0" "02325" "PRICKLE2_000034" "g.64132648_64132653del" "" "" "" "PRICKLE2(NM_198859.4):c.1526_1531delAGGAAG (p.E509_E510del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948205" "0" "50" "3" "64132620" "64132620" "subst" "0" "02329" "PRICKLE2_000035" "g.64132620G>A" "" "" "" "PRICKLE2(NM_198859.4):c.1546C>T (p.Q516*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034151" "0" "30" "3" "64133387" "64133387" "del" "0" "01804" "PRICKLE2_000036" "g.64133387del" "" "" "" "PRICKLE2(NM_198859.4):c.788-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064006" "0" "50" "3" "64133221" "64133221" "del" "0" "02325" "PRICKLE2_000037" "g.64133221del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064007" "0" "30" "3" "64133384" "64133384" "subst" "0.0018436" "02325" "PRICKLE2_000021" "g.64133384A>G" "" "" "" "PRICKLE2(NM_198859.4):c.788-6T>C" "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 PRICKLE2 ## Count = 44 "{{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}}" "0000188163" "00016810" "00" "445" "0" "445" "0" "c.445G>T" "r.(?)" "p.(Ala149Ser)" "" "0000188194" "00016810" "00" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Tyr176Cys)" "" "0000188227" "00016810" "00" "63" "0" "63" "0" "c.63G>C" "" "p.(Gln21His)" "" "0000188304" "00016810" "00" "1913" "0" "1913" "0" "c.1913G>T" "" "p.(Arg638Met)" "" "0000188393" "00016810" "00" "1314" "0" "1314" "0" "c.1314G>C" "r.(?)" "p.(Gln438His)" "" "0000248189" "00016810" "10" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(Asp272=)" "" "0000250892" "00016810" "10" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(Asp272=)" "" "0000252078" "00016810" "30" "144" "135" "144" "135" "c.144+135T>G" "r.(=)" "p.(=)" "" "0000252079" "00016810" "30" "144" "10" "144" "10" "c.144+10T>C" "r.(=)" "p.(=)" "" "0000301186" "00016810" "30" "-40" "-42" "-40" "-42" "c.-40-42G>A" "r.(=)" "p.(=)" "" "0000301187" "00016810" "30" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Arg364Gln)" "" "0000301188" "00016810" "30" "1314" "0" "1314" "0" "c.1314G>C" "r.(?)" "p.(Gln438His)" "" "0000301189" "00016810" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Thr534=)" "" "0000301190" "00016810" "30" "1661" "-19" "1661" "-19" "c.1661-19C>T" "r.(=)" "p.(=)" "" "0000301191" "00016810" "30" "2003" "0" "2003" "0" "c.2003G>A" "r.(?)" "p.(Arg668His)" "" "0000301192" "00016810" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Pro81=)" "" "0000301193" "00016810" "10" "259" "-6" "259" "-6" "c.259-6A>G" "r.(=)" "p.(=)" "" "0000301194" "00016810" "10" "397" "-94" "397" "-94" "c.397-94G>A" "r.(=)" "p.(=)" "" "0000301195" "00016810" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000301196" "00016810" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Pro193=)" "" "0000301197" "00016810" "30" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Asn317Ser)" "" "0000651320" "00016810" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000655013" "00016810" "30" "788" "-6" "788" "-6" "c.788-6T>C" "r.(=)" "p.(=)" "" "0000677079" "00016810" "30" "1527" "0" "1527" "0" "c.1527G>A" "r.(?)" "p.(Glu509=)" "" "0000677080" "00016810" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Ile)" "" "0000689141" "00016810" "30" "145" "-4" "145" "-4" "c.145-4T>G" "r.spl?" "p.?" "" "0000719596" "00016810" "30" "2103" "0" "2103" "0" "c.2103G>T" "r.(?)" "p.(Leu701=)" "" "0000719597" "00016810" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Ser324=)" "" "0000719598" "00016810" "50" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Pro41Leu)" "" "0000735202" "00016810" "90" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148His)" "" "0000735205" "00016810" "90" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000735209" "00016810" "90" "1813" "0" "1813" "0" "c.1813G>T" "r.(?)" "p.(Val605Phe)" "" "0000735215" "00016810" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000735227" "00016810" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000735228" "00016810" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148His)" "" "0000787362" "00016810" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Trp)" "7" "0000801363" "00016810" "30" "1098" "0" "1098" "0" "c.1098A>C" "r.(?)" "p.(Ser366=)" "" "0000801364" "00016810" "30" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Tyr89=)" "" "0000859123" "00016810" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Gly230=)" "" "0000923988" "00016810" "50" "1526" "0" "1531" "0" "c.1526_1531del" "r.(?)" "p.(Glu509_Glu510del)" "" "0000948205" "00016810" "50" "1546" "0" "1546" "0" "c.1546C>T" "r.(?)" "p.(Gln516*)" "" "0001034151" "00016810" "30" "788" "-3" "788" "-3" "c.788-3del" "r.spl?" "p.?" "" "0001064006" "00016810" "50" "948" "0" "948" "0" "c.948del" "r.(?)" "p.(Asn317Metfs*36)" "" "0001064007" "00016810" "30" "788" "-6" "788" "-6" "c.788-6T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000117318" "0000188163" "0000117349" "0000188194" "0000117382" "0000188227" "0000117459" "0000188304" "0000117553" "0000188393" "0000294631" "0000651320" "0000336129" "0000735202" "0000336129" "0000735205" "0000336134" "0000735209" "0000336138" "0000735215" "0000336141" "0000735227" "0000336141" "0000735228" "0000376011" "0000787362"