### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PALB2) # 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}}" "PALB2" "partner and localizer of BRCA2" "16" "p12.2" "unknown" "LRG_308" "UD_144411013961" "" "" "" "1" "26144" "79728" "610355" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-04 10:12:53" "" "" "00006" "2021-08-23 15:41:27" ## 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}}" "00000024" "PALB2" "partner and localizer of BRCA2" "001" "NM_024675.3" "" "NP_078951.2" "" "" "" "-200" "3858" "3561" "23641357" "23603162" "00001" "2020-11-04 10:14:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018" "PALB2" "Partner And Localizer Of BRCA2" "" "" "" "" "" "00001" "2020-11-04 10:12:18" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PALB2" "00018" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000127" "" "" "" "1" "" "00002" "{PMID:Sze Yee Phuah et al. (2013):23977390}" "" "" "Malaysia" "Chinese" "" "F" "00000128" "" "" "" "1" "" "00002" "{PMID:Sze Yee Phuah et al. (2013):23977390}" "" "" "Malaysia" "Indian" "" "F" "00000129" "" "" "" "1" "" "00002" "{PMID:Sze Yee Phuah et al. (2013):23977390}" "" "" "Malaysia" "Malay" "" "F" "00000130" "" "" "" "1" "" "00002" "{PMID:Hanis Nazihah Hasmad et al.(2016):26541979}" "" "" "Malaysia" "Chinese" "" "F" "00000193" "" "" "" "1" "" "00002" "{PMID:Xiaohong R Yang et al. (2017):28664506}" "" "" "Malaysia" "" "Sarawak" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000127" "00018" "00000128" "00018" "00000129" "00018" "00000130" "00018" "00000193" "00018" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00018 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000056" "00018" "00000127" "00002" "" "" "0000000057" "00018" "00000128" "00002" "" "" "0000000058" "00018" "00000129" "00002" "" "" "0000000059" "00018" "00000130" "00002" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000142" "00000127" "1" "00002" "00002" "2020-11-04 10:33:43" "" "" "SEQ" "DNA" "0000000143" "00000128" "1" "00002" "00002" "2020-11-04 11:24:32" "" "" "SEQ" "DNA" "0000000144" "00000129" "1" "00002" "00002" "2020-11-04 11:33:56" "" "" "SEQ" "DNA" "0000000145" "00000130" "1" "00002" "00002" "2020-11-04 12:02:16" "" "" "PCRm;SEQ" "DNA" "0000000208" "00000193" "1" "00002" "00002" "2020-11-26 11:06:29" "" "" "MLPA;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000142" "PALB2" "0000000143" "PALB2" "0000000144" "PALB2" "0000000145" "PALB2" "0000000208" "PALB2" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 17 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000000664" "0" "90" "16" "23635505" "23635509" "del" "0" "00002" "PALB2_000001" "g.23635505_23635509del" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs587776410}" "c.1037_1041 delAAGAA" "" "rs587776410" "0000000665" "0" "90" "16" "23635800" "23635800" "subst" "0" "00002" "PALB2_000002" "g.23635800G>A" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}" "" "" "" "0000000666" "0" "00" "16" "23635621" "23635621" "subst" "0" "00002" "PALB2_000003" "g.23635621T>C" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs3809683}, {ClinVar:126780}" "" "" "rs3809683" "0000000667" "0" "00" "16" "23635492" "23635492" "subst" "0" "00002" "PALB2_000004" "g.23635492C>G" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs201035780}" "" "" "rs201035780" "0000000668" "0" "00" "16" "23635054" "23635054" "subst" "0" "00002" "PALB2_000005" "g.23635054C>A" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs75023630}" "" "" "rs75023630" "0000000669" "0" "00" "16" "23634870" "23634870" "subst" "0" "00002" "PALB2_000006" "g.23634870T>C" "28/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs152451}, {ClinVar:126613}" "" "" "rs152451" "0000000670" "0" "00" "16" "23621421" "23621421" "subst" "0" "00002" "PALB2_000007" "g.23621421C>G" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs183489969}, {ClinVar:126708}" "" "" "rs183489969" "0000000671" "0" "00" "16" "23630087" "23630087" "subst" "0" "00002" "PALB2_000008" "g.23630087C>T" "1/37" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs371149159}" "" "" "rs371149159" "0000000672" "0" "00" "16" "23635647" "23635647" "subst" "0" "00002" "PALB2_000009" "g.23635647G>A" "1/4" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs528541334}, {ClinVar:126777}" "" "" "rs528541334" "0000000673" "0" "00" "16" "23634870" "23634870" "subst" "0" "00002" "PALB2_000006" "g.23634870T>C" "3/4" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs152451}, {ClinVar:126613}" "" "" "rs152451" "0000000674" "0" "00" "16" "23634870" "23634870" "subst" "0" "00002" "PALB2_000006" "g.23634870T>C" "6/8" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs152451}, {ClinVar:126613}" "" "" "rs152451" "0000000675" "0" "00" "16" "23629865" "23629865" "subst" "0" "00002" "PALB2_000010" "g.23629865C>G" "1/8" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs373478248}" "" "" "rs373478248" "0000000676" "0" "90" "16" "23621426" "23621426" "subst" "0" "00002" "PALB2_000011" "g.23621426C>T" "1/8" "{PMID:Sze Yee Phuah et al. (2013):23977390}, {dbSNP:rs759795184}" "" "" "rs759795184" "0000000677" "0" "90" "16" "23635795" "23635795" "subst" "0" "00002" "PALB2_000012" "g.23635795G>A" "1" "{PMID:Hanis Nazihah Hasmad et al. (2016):26541979}, {dbSNP:rs180177091}, {ClinVar:126767}" "" "" "rs180177091" "0000000950" "0" "90" "16" "23624015" "23624015" "del" "0" "00002" "PALB2_000013" "g.23624015delT" "1/4" "{PMID:Xiaohong R Yang et al. (2017):28664506}" "" "" "" "0000000951" "0" "00" "16" "23630471" "23630471" "subst" "0" "00002" "PALB2_000014" "g.23630471T>C" "1/4" "{PMID:Xiaohong R Yang et al. (2017):28664506}, {dbSNP:rs754660432}, {ClinVar:449968}" "c.1691-2A>G" "" "rs754660432" "0000000952" "0" "90" "16" "23635795" "23635795" "subst" "0" "00002" "PALB2_000012" "g.23635795G>A" "1/4" "{PMID:Xiaohong R Yang et al. (2017):28664506}, {dbSNP:rs180177091}, {ClinVar:126767}" "N251X" "" "rs180177091" ## 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 PALB2 ## Count = 17 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000000664" "00000024" "90" "1037" "0" "1041" "0" "c.1037_1041del" "4" "p.(Lys346Thrfs*13)" "r.(?)" "" "" "{ClinVar:141527}" "0000000665" "00000024" "90" "746" "0" "746" "0" "c.746C>T" "4" "p.(Pro249Leu)" "r.(?)" "" "" "" "0000000666" "00000024" "00" "925" "0" "925" "0" "c.925A>G" "4" "p.(Ile309Val)" "r.(?)" "" "" "{ClinVar:126780}" "0000000667" "00000024" "00" "1054" "0" "1054" "0" "c.1054G>C" "4" "p.(Glu352Gln)" "r.(?)" "" "" "{ClinVar:132751}" "0000000668" "00000024" "00" "1492" "0" "1492" "0" "c.1492G>T" "4" "p.(Asp498Tyr)" "r.(?)" "" "" "{ClinVar:182790}" "0000000669" "00000024" "00" "1676" "0" "1676" "0" "c.1676A>G" "4" "p.(Gln559Arg)" "r.(?)" "" "" "{ClinVar:126613}" "0000000670" "00000024" "00" "3054" "0" "3054" "0" "c.3054G>C" "10" "p.(Glu1018Asp)" "r.(?)" "" "" "{ClinVar:126708}" "0000000671" "00000024" "00" "2067" "0" "2067" "0" "c.2067G>A" "5" "p.(=)" "r.(=)" "" "" "{ClinVar:185889}" "0000000672" "00000024" "00" "899" "0" "899" "0" "c.899C>T" "4" "p.(Thr300Ile)" "r.(?)" "" "" "{ClinVar:126777}" "0000000673" "00000024" "00" "1676" "0" "1676" "0" "c.1676A>G" "4" "p.(Gln559Arg)" "r.(?)" "" "" "{ClinVar:126613}" "0000000674" "00000024" "00" "1676" "0" "1676" "0" "c.1676A>G" "4" "p.(Gln559Arg)" "r.(?)" "" "" "{ClinVar:126613}" "0000000675" "00000024" "00" "2289" "0" "2289" "0" "c.2289G>C" "5" "p.(Leu763Phe)" "r.(?)" "" "" "{ClinVar:136133}" "0000000676" "00000024" "90" "3049" "0" "3049" "0" "c.3049G>A" "10" "p.(Ala1017Thr)" "r.(?)" "" "" "" "0000000677" "00000024" "90" "751" "0" "751" "0" "c.751C>T" "4" "p.(Gln251*)" "r.(?)" "" "" "{ClinVar:126767}" "0000000950" "00000024" "90" "2828" "0" "2828" "0" "c.2828delA" "-" "p.(Glu943Glyfs*19)" "r.(?)" "" "" "" "0000000951" "00000024" "00" "1685" "-2" "1685" "-2" "c.1685-2A>G" "-" "p.?" "r.spl?" "" "" "{ClinVar:449968}" "0000000952" "00000024" "90" "751" "0" "751" "0" "c.751C>T" "" "p.(Gln251*)" "r.(?)" "" "" "{ClinVar:126767}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000142" "0000000664" "0000000142" "0000000665" "0000000142" "0000000666" "0000000142" "0000000667" "0000000142" "0000000668" "0000000142" "0000000669" "0000000142" "0000000670" "0000000142" "0000000671" "0000000143" "0000000672" "0000000143" "0000000673" "0000000144" "0000000674" "0000000144" "0000000675" "0000000144" "0000000676" "0000000145" "0000000677" "0000000208" "0000000950" "0000000208" "0000000951" "0000000208" "0000000952"