### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POLR1D) # 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}}" "POLR1D" "polymerase (RNA) I polypeptide D, 16kDa" "13" "q12.2" "unknown" "NG_028908.1" "UD_132118711674" "" "https://www.LOVD.nl/POLR1D" "" "1" "20422" "51082" "613715" "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/POLR1D_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-13 11:08:36" "00000" "2025-11-01 13:22:20" ## 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}}" "00016499" "POLR1D" "transcript variant 1" "003" "NM_015972.3" "" "NP_057056.1" "" "" "" "-205" "605" "402" "28195916" "28197590" "" "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}}" "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" "00978" "TCS2" "Treacher Collins syndrome, type 2 (TCS-2)" "AD;AR" "613717" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05668" "TCS" "Treacher Collins syndrome" "" "" "" "" "" "00008" "2019-10-30 16:36:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "POLR1D" "00139" "POLR1D" "00978" "POLR1D" "05668" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00285013" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "" "" "0" "" "" "" "Man8" "00285014" "" "" "" "2" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, affected mother/daughter" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man15" "00285015" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Netherlands" "" "0" "" "" "" "Nijm88" "00285016" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man46" "00285017" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "F" "" "" "" "0" "" "" "" "EsM10408" "00285018" "" "" "" "2" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "" "" "0" "" "" "" "EsM6195" "00285019" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man18" "00285020" "" "" "" "3" "" "00004" "{PMID:Dauwerse 2011:21131976}" "3-generation family, 3 affected (3F)" "F" "" "" "" "0" "" "" "" "EsM6227" "00285021" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man12" "00285022" "" "" "" "1" "" "00004" "{PMID:Schaefer 2014:24603435}, {PMID:Katsanis 1993:20301704}" "" "" "" "" "" "0" "" "" "" "" "00285023" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "EsM5850" "00285024" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man38" "00285025" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "affected fetus" "" "" "" "" "0" "" "" "" "EsM5513" "00285026" "" "" "" "2" "" "00004" "{PMID:Dauwerse 2011:21131976}" "3-generation family, affected daughter/grandmother, unaffected carrier mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man40" "00285027" "" "" "" "2" "" "00004" "{PMID:Dauwerse 2011:21131976}" "3-generation family, 2 affected brothers, 3 unaafected male carriers" "M" "" "" "" "0" "" "" "" "EsM42160" "00285028" "" "" "" "2" "" "00004" "{PMID:Dauwerse 2011:21131976}" "2-generation family, affected father/daughter" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "Man24" "00285029" "" "" "" "1" "" "00004" "{PMID:Dauwerse 2011:21131976}" "" "" "" "" "" "0" "" "" "" "EsM9491" "00285030" "" "" "" "3" "" "00004" "{PMID:Dauwerse 2011:21131976}" "3-generation family, 3 affected" "M" "" "" "" "0" "" "" "" "EsM3422" "00285031" "" "" "" "1" "" "00004" "{PMID:Giampietro 2015:25348728}" "" "" "" "" "" "0" "" "" "" "" "00290870" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00427781" "" "" "" "1" "" "00006" "{PMID:Dauwerse 2011:21131976}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Lei1" "00427782" "" "" "" "3" "" "00006" "{PMID:Dauwerse 2011:21131976}" "3-generation family, 3 affected (2F, M), unaffected carrier grandmother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Man33" "00427783" "" "" "" "1" "" "00006" "{PMID:Dauwerse 2011:21131976}" "" "" "" "" "" "0" "" "" "" "EsM7960" "00427784" "" "" "" "1" "" "00006" "{PMID:Dauwerse 2011:21131976}" "" "" "" "" "" "0" "" "" "" "EsM11695" "00443808" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat544" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00285013" "05668" "00285014" "05668" "00285015" "05668" "00285016" "05668" "00285017" "05668" "00285018" "05668" "00285019" "05668" "00285020" "05668" "00285021" "05668" "00285022" "05668" "00285023" "05668" "00285024" "05668" "00285025" "05668" "00285026" "05668" "00285027" "05668" "00285028" "05668" "00285029" "05668" "00285030" "05668" "00285031" "00198" "00290870" "00198" "00427781" "05668" "00427782" "05668" "00427783" "05668" "00427784" "05668" "00443808" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00978, 05668 ## Count = 22 "{{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}}" "0000217171" "00198" "00285031" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Klippel-Feil & Treacher Collins syndrome" "" "0000219664" "05668" "00285013" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219665" "05668" "00285014" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219666" "05668" "00285015" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219667" "05668" "00285016" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219668" "05668" "00285017" "00008" "Unknown" "" "downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no cleft palate; no tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219669" "05668" "00285018" "00008" "Familial" "" "downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; choanal stenosis/atresia; no cleft palate; no tracheostoma" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219670" "05668" "00285019" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219671" "05668" "00285020" "00008" "Familial, autosomal dominant" "" "downward slanting palpebral fissures; no lower eyelid coloboma; no hypoplasia zygomatic complex; hypoplasia mandible; microtia; no conductive deafness; no choanal stenosis/atresia; no cleft palate; no tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219672" "05668" "00285021" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219673" "05668" "00285022" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219674" "05668" "00285023" "00008" "Unknown" "" "downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; cleft palate; tracheostoma; no delayed motor development; speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219675" "05668" "00285024" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219676" "05668" "00285025" "00008" "Unknown" "" "hypoplasia mandible; microtia; cleft palate" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219677" "05668" "00285026" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219678" "05668" "00285027" "00008" "Unknown" "" "downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no choanal stenosis/atresia; cleft palate; tracheostoma; delayed motor development; speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219679" "05668" "00285028" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000219680" "05668" "00285029" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Treacher collins syndrome" "" "0000219681" "05668" "00285030" "00008" "Familial, autosomal dominant" "" "no downward slanting palpebral fissures; no lower eyelid coloboma; no hypoplasia zygomatic complex; hypoplasia mandible; no microtia; no conductive deafness; no choanal stenosis/atresia; no cleft palate; no tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher collins syndrome" "" "0000318757" "05668" "00427781" "00006" "Isolated (sporadic)" "" "downward slanting palpebral fissures; no lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; conductive deafness; no choanal stenosis/atresia; no cleft palate; no tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher Collins syndrome" "" "0000318758" "05668" "00427782" "00006" "Unknown" "" "downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; no microtia; no conductive deafness; no cleft palate; no tracheostoma; no delayed motor development; no speech delay" "" "" "" "" "" "" "" "" "TCS2" "Treacher Collins syndrome" "" "0000333085" "00198" "00443808" "00006" "Familial, autosomal dominant" "" "respiratory distress, distinctive dysmorphic features" "" "" "" "" "" "" "" "" "TCS2" "Treacher-Collins syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000286163" "00285013" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 11:13:21" "SEQ" "DNA" "" "" "0000286164" "00285014" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286165" "00285015" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286166" "00285016" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286167" "00285017" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286168" "00285018" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286169" "00285019" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286170" "00285020" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286171" "00285021" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286172" "00285022" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286173" "00285023" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286174" "00285024" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286175" "00285025" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286176" "00285026" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286177" "00285027" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286178" "00285028" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286179" "00285029" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286180" "00285030" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000286181" "00285031" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-12-13 12:35:46" "SEQ" "DNA" "" "" "0000292038" "00290870" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000429104" "00427781" "1" "00006" "00006" "2022-12-13 11:21:06" "" "" "arraySNP" "DNA" "" "" "0000429105" "00427782" "1" "00006" "00006" "2022-12-13 12:11:20" "" "" "SEQ" "DNA" "" "" "0000429106" "00427783" "1" "00006" "00006" "2022-12-13 12:28:06" "" "" "SEQ" "DNA" "" "" "0000429107" "00427784" "1" "00006" "00006" "2022-12-13 12:29:27" "" "" "SEQ" "DNA" "" "" "0000445305" "00443808" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000286163" "POLR1D" "0000286164" "POLR1D" "0000286165" "POLR1D" "0000286166" "POLR1D" "0000286167" "POLR1D" "0000286168" "POLR1D" "0000286169" "POLR1D" "0000286170" "POLR1D" "0000286171" "POLR1D" "0000286172" "POLR1D" "0000286173" "POLR1D" "0000286174" "POLR1D" "0000286175" "POLR1D" "0000286176" "POLR1D" "0000286177" "POLR1D" "0000286178" "POLR1D" "0000286179" "POLR1D" "0000286180" "POLR1D" "0000286181" "POLR1D" "0000429105" "POLR1D" "0000429107" "POLR1D" ## 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 = 38 "{{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}}" "0000251855" "0" "30" "13" "28239999" "28239999" "subst" "0.0256605" "02326" "POLR1D_000003" "g.28239999A>G" "" "" "" "POLR1D(NM_001206559.1):c.194A>G (p.(His65Arg)), POLR1D(NM_001206559.2):c.194A>G (p.H65R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27665862A>G" "" "likely benign" "" "0000323311" "0" "50" "13" "28239944" "28239944" "subst" "0" "01804" "POLR1D_000002" "g.28239944A>G" "" "" "" "POLR1D(NM_001206559.1):c.139A>G (p.(Ser47Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27665807A>G" "" "VUS" "" "0000337653" "0" "10" "13" "28197436" "28197436" "subst" "0.405571" "02327" "POLR1D_000001" "g.28197436C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27623299C>T" "" "benign" "" "0000550131" "0" "30" "13" "28197196" "28197196" "subst" "4.06065E-6" "01943" "LNX2_000001" "g.28197196A>G" "" "" "" "POLR1D(NM_015972.3):c.211A>G (p.T71A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27623059A>G" "" "likely benign" "" "0000550132" "0" "90" "13" "28197244" "28197244" "subst" "0" "02325" "POLR1D_000026" "g.28197244C>T" "" "" "" "POLR1D(NM_015972.4):c.259C>T (p.R87*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27623107C>T" "" "pathogenic" "" "0000550133" "0" "30" "13" "28239999" "28239999" "subst" "0.0256605" "01804" "POLR1D_000003" "g.28239999A>G" "" "" "" "POLR1D(NM_001206559.1):c.194A>G (p.(His65Arg)), POLR1D(NM_001206559.2):c.194A>G (p.H65R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27665862A>G" "" "likely benign" "" "0000614555" "0" "30" "13" "28222513" "28222513" "subst" "0" "01943" "POLR1D_000004" "g.28222513C>T" "" "" "" "POLR1D(NM_001206559.1):c.-58-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27648376C>T" "" "likely benign" "" "0000641905" "0" "90" "13" "28196147" "28196147" "subst" "0" "00004" "POLR1D_000005" "g.28196147G>C" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27622010G>C" "" "pathogenic (dominant)" "" "0000641906" "21" "90" "13" "28197073" "28197074" "dup" "0" "00004" "POLR1D_000006" "g.28197073_28197074dup" "" "{PMID:Dauwerse 2011:21131976}" "" "88_89insTG" "" "Germline" "yes" "" "0" "" "" "g.27622936_27622937dup" "" "pathogenic (dominant)" "" "0000641907" "0" "90" "13" "28197076" "28197076" "subst" "0" "00004" "POLR1D_000007" "g.28197076C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27622939C>T" "" "pathogenic (dominant)" "" "0000641908" "0" "90" "13" "28197094" "28197094" "dup" "0" "00004" "POLR1D_000008" "g.28197094dup" "" "{PMID:Dauwerse 2011:21131976}" "" "109dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27622957dup" "" "pathogenic" "" "0000641909" "1" "90" "13" "28197121" "28197121" "subst" "0" "00004" "POLR1D_000009" "g.28197121G>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline" "" "" "0" "" "" "g.27622984G>T" "" "pathogenic (dominant)" "" "0000641910" "1" "90" "13" "28197124" "28197124" "subst" "4.06075E-6" "00004" "POLR1D_000010" "g.28197124G>A" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.27622987G>A" "" "pathogenic (dominant)" "" "0000641911" "0" "90" "13" "28197134" "28197134" "subst" "0" "00004" "POLR1D_000011" "g.28197134C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27622997C>T" "" "pathogenic (dominant)" "" "0000641912" "21" "90" "13" "28197137" "28197137" "subst" "0" "00004" "POLR1D_000012" "g.28197137T>G" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline" "" "" "0" "" "" "g.27623000T>G" "" "pathogenic (dominant)" "" "0000641913" "0" "90" "13" "28197140" "28197140" "subst" "0" "00004" "POLR1D_000013" "g.28197140G>A" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27623003G>A" "" "pathogenic (dominant)" "" "0000641914" "1" "99" "13" "28197148" "28197148" "subst" "0" "00004" "POLR1D_000014" "g.28197148C>G" "" "{DB:DVD}, {PMID:Schaefer 2014:24603435}, {PMID:Katsanis 1993:20301704}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.27623011C>G" "" "pathogenic" "" "0000641915" "21" "90" "13" "28197151" "28197151" "subst" "0" "00004" "POLR1D_000015" "g.28197151C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "unaffected carrier mother" "Germline" "" "" "0" "" "" "g.27623014C>T" "" "pathogenic (!)" "" "0000641916" "0" "90" "13" "28197156" "28197156" "subst" "4.06065E-6" "00004" "POLR1D_000016" "g.28197156C>A" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27623019C>A" "" "pathogenic (dominant)" "" "0000641917" "0" "90" "13" "28197217" "28197218" "del" "0" "00004" "POLR1D_000017" "g.28197217_28197218del" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27623080_27623081del" "" "pathogenic (dominant)" "" "0000641918" "21" "90" "13" "28197230" "28197230" "subst" "0" "00004" "POLR1D_000018" "g.28197230T>C" "" "{PMID:Dauwerse 2011:21131976}" "" "" "unaffected carrier mother" "Germline" "" "" "0" "" "" "g.27623093T>C" "" "pathogenic (!)" "" "0000641919" "11" "90" "13" "28197244" "28197244" "subst" "0" "00004" "POLR1D_000026" "g.28197244C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "3 unaffected male carriers" "Germline" "" "" "0" "" "" "g.27623107C>T" "" "pathogenic (!)" "" "0000641920" "11" "90" "13" "28197248" "28197248" "dup" "0" "00004" "POLR1D_000019" "g.28197248dup" "" "{PMID:Dauwerse 2011:21131976}" "" "263dupG" "" "Germline" "yes" "" "0" "" "" "g.27623111dup" "" "pathogenic (dominant)" "" "0000641921" "0" "90" "13" "28197280" "28197280" "subst" "0" "00004" "POLR1D_000020" "g.28197280G>A" "" "{DB:DVD}, {PMID:Dauwerse 2011:21131976}" "" "295A>G (Gly99Ser)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27623143G>A" "" "pathogenic (dominant)" "" "0000641922" "11" "90" "13" "28197311" "28197312" "del" "0" "00004" "POLR1D_000021" "g.28197311_28197312del" "" "{PMID:Dauwerse 2011:21131976}" "" "326-327del" "" "Germline" "yes" "" "0" "" "" "g.27623174_27623175del" "" "pathogenic" "" "0000641923" "1" "99" "13" "28197317" "28197317" "subst" "0" "00004" "POLR1D_000022" "g.28197317T>C" "" "{DB:DVD}, {PMID:Giampietro 2015:25348728}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.27623180T>C" "" "pathogenic" "" "0000648727" "1" "30" "13" "28197417" "28197417" "subst" "0.0133825" "03575" "POLR1D_000023" "g.28197417C>A" "15/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs8459}" "Germline" "" "rs8459" "0" "" "" "g.27623280C>A" "" "likely benign" "" "0000724399" "0" "30" "13" "28222543" "28222543" "subst" "4.07657E-6" "01943" "POLR1D_000024" "g.28222543G>A" "" "" "" "POLR1D(NM_152705.2):c.54G>A (p.E18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806061" "0" "50" "13" "28197134" "28197134" "subst" "0" "02327" "POLR1D_000011" "g.28197134C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908525" "0" "90" "13" "28189980" "28346594" "del" "0" "00006" "POLR1D_000025" "g.(28155941_28189980)_(28346594_28400000)del" "" "{PMID:Dauwerse 2011:21131976}" "" "" "156-kb deletion extending from rs534150 to rs1231044" "De novo" "" "" "0" "" "" "g.(27581804_27615843)_(27772457_?)del" "" "pathogenic (dominant)" "" "0000908527" "21" "90" "13" "28197244" "28197244" "subst" "0" "00006" "POLR1D_000026" "g.28197244C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "unaffected carrier female" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000908528" "0" "90" "13" "28197124" "28197124" "subst" "4.06075E-6" "00006" "POLR1D_000010" "g.28197124G>A" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000908529" "0" "90" "13" "28197244" "28197244" "subst" "0" "00006" "POLR1D_000026" "g.28197244C>T" "" "{PMID:Dauwerse 2011:21131976}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000952219" "11" "90" "13" "28197244" "28197244" "subst" "0" "00006" "POLR1D_000026" "g.28197244C>T" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "Germline" "" "" "0" "" "" "g.27623107C>T" "" "pathogenic (dominant)" "" "0001039630" "0" "50" "13" "28195935" "28195935" "subst" "0" "01804" "LNX2_000002" "g.28195935G>A" "" "" "" "POLR1D(NM_001374407.1):c.-186G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039631" "0" "30" "13" "28197314" "28197314" "subst" "0.000203054" "01804" "LNX2_000003" "g.28197314T>C" "" "" "" "POLR1D(NM_015972.4):c.329T>C (p.(Val110Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054596" "0" "50" "13" "28197208" "28197208" "subst" "0" "01804" "LNX2_000004" "g.28197208C>T" "" "" "" "POLR1D(NM_015972.4):c.223C>T (p.(Pro75Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054597" "0" "50" "13" "28222569" "28222569" "subst" "0" "01804" "POLR1D_000027" "g.28222569A>T" "" "" "" "POLR1D(NM_152705.3):c.80A>T (p.(Glu27Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes POLR1D ## Count = 38 "{{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}}" "0000251855" "00016499" "30" "43014" "0" "43014" "0" "c.*42612A>G" "r.(=)" "p.(=)" "" "0000323311" "00016499" "50" "42959" "0" "42959" "0" "c.*42557A>G" "r.(=)" "p.(=)" "" "0000337653" "00016499" "10" "451" "0" "451" "0" "c.*49C>T" "r.(=)" "p.(=)" "" "0000550131" "00016499" "30" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Thr71Ala)" "" "0000550132" "00016499" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Ter)" "" "0000550133" "00016499" "30" "43014" "0" "43014" "0" "c.*42612A>G" "r.(=)" "p.(=)" "" "0000614555" "00016499" "30" "25528" "0" "25528" "0" "c.*25126C>T" "r.(=)" "p.(=)" "" "0000641905" "00016499" "90" "26" "1" "26" "1" "c.26+1G>C" "r.spl" "p.?" "2i" "0000641906" "00016499" "90" "88" "0" "89" "0" "c.88_89dup" "r.(?)" "p.(Gln31Serfs*11)" "3" "0000641907" "00016499" "90" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Gln31*)" "3" "0000641908" "00016499" "90" "109" "0" "109" "0" "c.109dup" "r.(?)" "p.(Arg37Lysfs*45)" "3" "0000641909" "00016499" "90" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Glu46*)" "3" "0000641910" "00016499" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Glu47Lys)" "3" "0000641911" "00016499" "90" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "3" "0000641912" "00016499" "90" "152" "0" "152" "0" "c.152T>G" "r.(?)" "p.(Leu51Arg)" "3" "0000641913" "00016499" "90" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Gly52Glu)" "3" "0000641914" "00016499" "99" "163" "0" "163" "0" "c.163C>G" "r.(?)" "p.(Leu55Val)" "3" "0000641915" "00016499" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "3" "0000641916" "00016499" "90" "171" "0" "171" "0" "c.171C>A" "r.(?)" "p.(Tyr57*)" "3" "0000641917" "00016499" "90" "232" "0" "233" "0" "c.232_233del" "r.(?)" "p.(Ser78Glnfs*3)" "3" "0000641918" "00016499" "90" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Leu82Ser)" "3" "0000641919" "00016499" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "3" "0000641920" "00016499" "90" "263" "0" "263" "0" "c.263dup" "r.(?)" "p.(Thr89Tyrfs*6)" "3" "0000641921" "00016499" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Ser)" "3" "0000641922" "00016499" "90" "326" "0" "327" "0" "c.326_327del" "r.(?)" "p.(His109Argfs*3)" "3" "0000641923" "00016499" "99" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Leu111Pro)" "3" "0000648727" "00016499" "30" "432" "0" "432" "0" "c.*30C>A" "r.(=)" "p.(=)" "" "0000724399" "00016499" "30" "25558" "0" "25558" "0" "c.*25156G>A" "r.(=)" "p.(=)" "" "0000806061" "00016499" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Thr50Ile)" "" "0000908525" "00016499" "90" "0" "0" "0" "0" "c.-205_*203{0}" "r.0" "p.0" "_1_2_" "0000908527" "00016499" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000908528" "00016499" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Glu47Lys)" "" "0000908529" "00016499" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87*)" "" "0000952219" "00016499" "90" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Arg87Ter)" "" "0001039630" "00016499" "50" "-186" "0" "-186" "0" "c.-186G>A" "r.(?)" "p.(=)" "" "0001039631" "00016499" "30" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Val110Ala)" "" "0001054596" "00016499" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Pro75Ser)" "" "0001054597" "00016499" "50" "25584" "0" "25584" "0" "c.*25182A>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000286163" "0000641905" "0000286164" "0000641906" "0000286165" "0000641907" "0000286166" "0000641908" "0000286167" "0000641909" "0000286168" "0000641910" "0000286169" "0000641911" "0000286170" "0000641912" "0000286171" "0000641913" "0000286172" "0000641914" "0000286173" "0000641915" "0000286174" "0000641916" "0000286175" "0000641917" "0000286176" "0000641918" "0000286177" "0000641919" "0000286178" "0000641920" "0000286179" "0000641921" "0000286180" "0000641922" "0000286181" "0000641923" "0000292038" "0000648727" "0000429104" "0000908525" "0000429105" "0000908527" "0000429106" "0000908528" "0000429107" "0000908529" "0000445305" "0000952219"