### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = REV3L) # 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}}" "REV3L" "REV3-like, polymerase (DNA directed), zeta, catalytic subunit" "6" "q22" "unknown" "NC_000006.11" "UD_132610756069" "" "https://www.LOVD.nl/REV3L" "" "1" "9968" "5980" "602776" "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/REV3L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-12 15:33:29" "00000" "2025-05-05 21:14:00" ## 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}}" "00017645" "REV3L" "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)" "001" "NM_002912.3" "" "NP_002903.3" "" "" "" "-323" "10378" "9393" "111804414" "111620234" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04244" "MBS" "Moebius syndrome (MBS)" "" "157900" "" "" "" "00006" "2015-05-01 19:07:11" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "REV3L" "04244" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00361928" "" "" "" "1" "" "00006" "{PMID:Tomas-Roca 2015:26068067}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00361931" "" "" "" "1" "" "00006" "{PMID:Tomas-Roca 2015:26068067}" "" "F" "" "" "" "0" "" "" "" "Pat11" "00361932" "" "" "" "1" "" "00006" "{PMID:Tomas-Roca 2015:26068067}" "" "F" "" "" "" "0" "" "" "" "Pat12" "00361935" "" "" "" "1" "" "00006" "{PMID:Halas 2021:33474647}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00361928" "04244" "00361931" "04244" "00361932" "04244" "00361935" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04244, 05611 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000257324" "04244" "00361928" "00006" "Isolated (sporadic)" "" "see paper; ..., right upper facial palsy, right lower facial palsy; left upper facial palsy, left lower facial palsy; abduction palsy (both eyes); tongue malformations; swallowing difficulties; palatal weakness; dysarthria; language delay; epincanthic folds; flat nasal bridge; ectrodactyly; rib deformities; anisomelia; Poland anomaly; motor retardation; clumsy motor performance; hypotonia; hearing loss; cardiac defect" "" "" "" "" "" "" "" "" "Moebius syndrome" "0000257327" "04244" "00361931" "00006" "Isolated (sporadic)" "" "see paper; ..., right upper facial palsy, right lower facial palsy; left upper facial palsy, left lower facial palsy; abduction palsy (both eyes); horizontal gaze palsy; lagophthalmos; swallowing difficulties; dental defects; motor retardation" "" "" "" "" "" "" "" "" "Moebius syndrome" "0000257328" "04244" "00361932" "00006" "Isolated (sporadic)" "" "see paper; ..., right upper facial palsy, right lower facial palsy; left upper facial palsy, left lower facial palsy;; lagophthalmos" "" "" "" "" "" "" "" "" "Moebius syndrome" "0000257331" "05611" "00361935" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., developmental delay, hypotrophy, dysmorphic features, no Moebius syndrome" "" "" "" "" "" "" "" "" "developmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000363156" "00361928" "1" "00006" "00006" "2021-04-12 16:33:47" "00006" "2021-04-12 16:43:29" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000363159" "00361931" "1" "00006" "00006" "2021-04-12 16:33:47" "" "" "SEQ" "DNA" "" "" "0000363160" "00361932" "1" "00006" "00006" "2021-04-12 16:33:47" "" "" "SEQ" "DNA" "" "" "0000363163" "00361935" "1" "00006" "00006" "2021-04-12 16:55:47" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000363156" "REV3L" "0000363159" "REV3L" "0000363160" "REV3L" "0000363163" "REV3L" ## 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 = 66 "{{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}}" "0000297658" "0" "50" "6" "111726679" "111726679" "subst" "4.4379E-6" "02325" "REV3L_000004" "g.111726679T>A" "" "" "" "REV3L(NM_001286431.2):c.325A>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111405476T>A" "" "VUS" "" "0000307036" "0" "50" "6" "111695930" "111695930" "subst" "6.53755E-5" "01943" "REV3L_000002" "g.111695930C>T" "" "" "" "REV3L(NM_001286431.1):c.3394G>A (p.A1132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111374727C>T" "" "VUS" "" "0000307037" "0" "30" "6" "111804059" "111804059" "subst" "0" "01943" "REV3L_000005" "g.111804059G>A" "" "" "" "REV3L(NM_002912.4):c.33C>T (p.Y11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111482856G>A" "" "likely benign" "" "0000526687" "0" "10" "6" "111628771" "111628771" "subst" "0.00140295" "01943" "REV3L_000006" "g.111628771G>T" "" "" "" "REV3L(NM_001286431.1):c.8811C>A (p.I2937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111307568G>T" "" "benign" "" "0000526689" "0" "30" "6" "111686536" "111686536" "subst" "0" "01943" "REV3L_000008" "g.111686536G>T" "" "" "" "REV3L(NM_001286431.1):c.6451C>A (p.Q2151K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111365333G>T" "" "likely benign" "" "0000526690" "0" "30" "6" "111688904" "111688904" "subst" "8.13498E-6" "01943" "REV3L_000009" "g.111688904T>C" "" "" "" "REV3L(NM_001286431.1):c.5853A>G (p.G1951=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111367701T>C" "" "likely benign" "" "0000526691" "0" "50" "6" "111694754" "111694754" "subst" "0" "01943" "REV3L_000010" "g.111694754C>A" "" "" "" "REV3L(NM_001286431.1):c.4570G>T (p.D1524Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111373551C>A" "" "VUS" "" "0000526692" "0" "30" "6" "111695079" "111695079" "subst" "0" "01943" "REV3L_000011" "g.111695079C>T" "" "" "" "REV3L(NM_001286431.1):c.4245G>A (p.P1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111373876C>T" "" "likely benign" "" "0000526693" "0" "30" "6" "111695304" "111695304" "subst" "0.000337687" "01943" "REV3L_000012" "g.111695304A>G" "" "" "" "REV3L(NM_001286431.1):c.4020T>C (p.N1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111374101A>G" "" "likely benign" "" "0000526694" "0" "50" "6" "111696203" "111696203" "subst" "0.000800131" "02325" "REV3L_000013" "g.111696203T>C" "" "" "" "REV3L(NM_001286431.2):c.3121A>G (p.S1041G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111375000T>C" "" "VUS" "" "0000526696" "0" "10" "6" "111696852" "111696852" "subst" "0.473825" "02327" "REV3L_000015" "g.111696852T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111375649T>C" "" "benign" "" "0000526697" "0" "30" "6" "111697367" "111697367" "subst" "0.00010229" "01943" "REV3L_000016" "g.111697367C>T" "" "" "" "REV3L(NM_001286431.1):c.1957G>A (p.A653T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111376164C>T" "" "likely benign" "" "0000526698" "0" "50" "6" "111697631" "111697634" "del" "0" "02325" "REV3L_000017" "g.111697631_111697634del" "" "" "" "REV3L(NM_001286431.2):c.1691_1694delAAGA (p.K564Rfs*70)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111376428_111376431del" "" "VUS" "" "0000526700" "0" "50" "6" "111701356" "111701356" "subst" "1.62479E-5" "02325" "REV3L_000019" "g.111701356C>A" "" "" "" "REV3L(NM_001286431.2):c.1049G>T (p.G350V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111380153C>A" "" "VUS" "" "0000526701" "0" "50" "6" "111708986" "111708991" "del" "0" "02325" "REV3L_000020" "g.111708986_111708991del" "" "" "" "REV3L(NM_001286431.2):c.846_851delCAAAGA (p.D282_K283del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111387783_111387788del" "" "VUS" "" "0000609907" "0" "50" "6" "111631280" "111631280" "subst" "9.11353E-6" "02325" "REV3L_000022" "g.111631280G>A" "" "" "" "REV3L(NM_001286431.2):c.8584C>T (p.R2862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111310077G>A" "" "VUS" "" "0000609908" "0" "30" "6" "111672922" "111672922" "subst" "0.000178997" "02325" "REV3L_000025" "g.111672922G>A" "" "" "" "REV3L(NM_001286431.2):c.7023C>T (p.A2341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111351719G>A" "" "likely benign" "" "0000609909" "0" "30" "6" "111694114" "111694114" "subst" "7.72132E-5" "01943" "REV3L_000026" "g.111694114T>C" "" "" "" "REV3L(NM_001286431.1):c.5210A>G (p.N1737S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111372911T>C" "" "likely benign" "" "0000609910" "0" "50" "6" "111695126" "111695126" "subst" "5.69087E-5" "02325" "REV3L_000027" "g.111695126C>T" "" "" "" "REV3L(NM_001286431.2):c.4198G>A (p.G1400S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111373923C>T" "" "VUS" "" "0000609911" "0" "30" "6" "111695344" "111695344" "subst" "0.000134227" "01943" "REV3L_000028" "g.111695344T>C" "" "" "" "REV3L(NM_001286431.1):c.3980A>G (p.N1327S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111374141T>C" "" "likely benign" "" "0000609912" "0" "30" "6" "111697631" "111697636" "del" "0" "02325" "REV3L_000029" "g.111697631_111697636del" "" "" "" "REV3L(NM_001286431.2):c.1689_1694delTAAAGA (p.H563_E565delinsQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111376428_111376433del" "" "likely benign" "" "0000609913" "0" "50" "6" "111697822" "111697822" "subst" "1.22281E-5" "02325" "REV3L_000030" "g.111697822C>T" "" "" "" "REV3L(NM_001286431.2):c.1502G>A (p.C501Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111376619C>T" "" "VUS" "" "0000621616" "0" "50" "6" "111621299" "111621299" "subst" "9.85918E-5" "02325" "REV3L_000021" "g.111621299G>C" "" "" "" "REV3L(NM_001286431.2):c.9079C>G (p.P3027A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111300096G>C" "" "VUS" "" "0000621617" "0" "30" "6" "111632385" "111632385" "subst" "0" "01943" "REV3L_000023" "g.111632385A>G" "" "" "" "REV3L(NM_001286431.1):c.8448T>C (p.C2816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111311182A>G" "" "likely benign" "" "0000621618" "0" "50" "6" "111672874" "111672874" "subst" "0" "01943" "REV3L_000024" "g.111672874C>G" "" "" "" "REV3L(NM_001286431.1):c.7066+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111351671C>G" "" "VUS" "" "0000655455" "0" "30" "6" "111680068" "111680068" "subst" "0.000174838" "01943" "REV3L_000031" "g.111680068T>C" "" "" "" "REV3L(NM_001286431.1):c.6795A>G (p.T2265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111358865T>C" "" "likely benign" "" "0000655457" "0" "30" "6" "111694830" "111694830" "subst" "0.000101631" "01943" "REV3L_000033" "g.111694830C>T" "" "" "" "REV3L(NM_001286431.1):c.4494G>A (p.S1498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111373627C>T" "" "likely benign" "" "0000655458" "0" "50" "6" "111699015" "111699015" "subst" "0.000183642" "01943" "REV3L_000034" "g.111699015T>C" "" "" "" "REV3L(NM_001286431.1):c.1252A>G (p.T418A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111377812T>C" "" "VUS" "" "0000720628" "0" "50" "6" "111688851" "111688851" "subst" "2.44071E-5" "02325" "REV3L_000035" "g.111688851G>A" "" "" "" "REV3L(NM_002912.5):c.6140C>T (p.P2047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720629" "0" "50" "6" "111804138" "111804138" "subst" "9.45949E-6" "02325" "REV3L_000036" "g.111804138G>A" "" "" "" "REV3L(NM_002912.5):c.-47C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763602" "0" "90" "6" "111708967" "111708967" "subst" "0" "00006" "REV3L_000037" "g.111708967C>T" "" "{PMID:Tomas-Roca 2015:26068067}" "" "" "" "De novo" "" "" "0" "" "" "g.111387764C>T" "" "pathogenic (dominant)" "" "0000763605" "0" "90" "6" "111702584" "111702584" "subst" "0" "00006" "REV3L_000038" "g.111702584T>C" "" "{PMID:Tomas-Roca 2015:26068067}" "" "" "" "De novo" "" "" "0" "" "" "g.111381381T>C" "" "pathogenic (dominant)" "" "0000763606" "0" "90" "6" "111696896" "111696896" "subst" "0" "00006" "REV3L_000039" "g.111696896T>A" "" "{PMID:Tomas-Roca 2015:26068067}" "" "" "" "De novo" "" "" "0" "" "" "g.111375693T>A" "" "pathogenic (dominant)" "" "0000763612" "3" "90" "6" "111634667" "111634667" "subst" "0" "00006" "REV3L_000040" "g.111634667G>C" "" "{PMID:Halas 2021:33474647}" "" "NM_001286431.2:c.8258C>G (T2753R)" "" "Germline" "" "" "0" "" "" "g.111313464G>C" "" "pathogenic (recessive)" "" "0000802260" "0" "50" "6" "111632420" "111632420" "subst" "7.76106E-5" "01943" "REV3L_000041" "g.111632420T>C" "" "" "" "REV3L(NM_001286431.1):c.8413A>G (p.I2805V), REV3L(NM_002912.5):c.8647A>G (p.I2883V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802261" "0" "50" "6" "111652985" "111652985" "subst" "4.51289E-5" "02325" "REV3L_000042" "g.111652985T>C" "" "" "" "REV3L(NM_002912.5):c.7928A>G (p.Y2643C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802262" "0" "50" "6" "111694841" "111694841" "subst" "1.62594E-5" "02325" "REV3L_000043" "g.111694841G>A" "" "" "" "REV3L(NM_002912.5):c.4717C>T (p.R1573W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802263" "0" "50" "6" "111696053" "111696053" "subst" "8.95401E-5" "02325" "REV3L_000044" "g.111696053G>A" "" "" "" "REV3L(NM_002912.5):c.3505C>T (p.R1169C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802264" "0" "50" "6" "111697768" "111697768" "subst" "0.000285894" "01943" "REV3L_000045" "g.111697768T>C" "" "" "" "REV3L(NM_001286431.1):c.1556A>G (p.E519G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851036" "0" "50" "6" "111737571" "111737571" "subst" "4.06832E-6" "02325" "REV3L_000048" "g.111737571T>C" "" "" "" "REV3L(NM_002912.5):c.244A>G (p.S82G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860077" "0" "30" "6" "111693819" "111693819" "subst" "1.78955E-5" "01943" "REV3L_000046" "g.111693819A>C" "" "" "" "REV3L(NM_001286431.1):c.5505T>G (p.S1835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860078" "0" "30" "6" "111694302" "111694302" "subst" "0" "01943" "REV3L_000047" "g.111694302T>A" "" "" "" "REV3L(NM_001286431.1):c.5022A>T (p.T1674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886986" "0" "30" "6" "111621337" "111621337" "subst" "0" "01804" "REV3L_000049" "g.111621337C>T" "" "" "" "REV3L(NM_002912.3):c.9275G>A (p.(Cys3092Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886987" "0" "50" "6" "111628669" "111628670" "del" "0" "02327" "REV3L_000050" "g.111628669_111628670del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886988" "0" "50" "6" "111632420" "111632420" "subst" "7.76106E-5" "02325" "REV3L_000041" "g.111632420T>C" "" "" "" "REV3L(NM_001286431.1):c.8413A>G (p.I2805V), REV3L(NM_002912.5):c.8647A>G (p.I2883V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886989" "0" "30" "6" "111665257" "111665257" "dup" "0" "01804" "REV3L_000051" "g.111665257dup" "" "" "" "REV3L(NM_002912.3):c.7420-3dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912380" "0" "50" "6" "111697090" "111697090" "subst" "0.00013839" "02325" "REV3L_000052" "g.111697090G>A" "" "" "" "REV3L(NM_002912.5):c.2468C>T (p.P823L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924405" "0" "50" "6" "111696466" "111696466" "subst" "0.000523435" "02325" "REV3L_000053" "g.111696466G>A" "" "" "" "REV3L(NM_002912.5):c.3092C>T (p.P1031L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948613" "0" "30" "6" "111688670" "111688670" "subst" "2.4739E-5" "02325" "REV3L_000054" "g.111688670T>A" "" "" "" "REV3L(NM_002912.5):c.6321A>T (p.E2107D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963779" "0" "50" "6" "111636474" "111636474" "subst" "0" "02325" "REV3L_000055" "g.111636474T>A" "" "" "" "REV3L(NM_002912.5):c.8462A>T (p.E2821V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963780" "0" "10" "6" "111665257" "111665257" "del" "0" "02329" "REV3L_000056" "g.111665257del" "" "" "" "REV3L(NM_001286431.2):c.7186-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995254" "0" "50" "6" "111632320" "111632320" "subst" "0" "01804" "REV3L_000057" "g.111632320C>T" "" "" "" "REV3L(NM_002912.3):c.8747G>A (p.(Ser2916Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995255" "0" "30" "6" "111632357" "111632357" "subst" "8.12499E-6" "01804" "REV3L_000058" "g.111632357T>C" "" "" "" "REV3L(NM_002912.3):c.8710A>G (p.(Ile2904Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995256" "0" "30" "6" "111694258" "111694258" "subst" "1.21957E-5" "01804" "REV3L_000059" "g.111694258G>A" "" "" "" "REV3L(NM_002912.3):c.5300C>T (p.(Ala1767Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995257" "0" "30" "6" "111695608" "111695608" "subst" "2.03454E-5" "01804" "REV3L_000060" "g.111695608T>C" "" "" "" "REV3L(NM_002912.3):c.3950A>G (p.(Asp1317Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995258" "0" "30" "6" "111695716" "111695716" "subst" "4.06881E-6" "01804" "REV3L_000061" "g.111695716G>A" "" "" "" "REV3L(NM_002912.3):c.3842C>T (p.(Ser1281Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995259" "0" "30" "6" "111695868" "111695868" "subst" "0" "01804" "REV3L_000062" "g.111695868T>G" "" "" "" "REV3L(NM_002912.3):c.3690A>C (p.(Lys1230Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995260" "0" "30" "6" "111695952" "111695952" "subst" "0" "01804" "REV3L_000063" "g.111695952A>C" "" "" "" "REV3L(NM_002912.3):c.3606T>G (p.(Asp1202Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995261" "0" "50" "6" "111696200" "111696200" "subst" "0" "01804" "REV3L_000064" "g.111696200G>T" "" "" "" "REV3L(NM_002912.3):c.3358C>A (p.(Pro1120Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995262" "0" "50" "6" "111696534" "111696534" "subst" "0" "01804" "REV3L_000065" "g.111696534T>A" "" "" "" "REV3L(NM_002912.3):c.3024A>T (p.(Glu1008Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995263" "0" "50" "6" "111696623" "111696623" "subst" "0" "01804" "REV3L_000066" "g.111696623T>C" "" "" "" "REV3L(NM_002912.3):c.2935A>G (p.(Ile979Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995264" "0" "30" "6" "111696921" "111696921" "subst" "0" "01804" "REV3L_000067" "g.111696921T>A" "" "" "" "REV3L(NM_002912.3):c.2637A>T (p.(Lys879Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995265" "0" "30" "6" "111699009" "111699009" "subst" "8.15315E-6" "01804" "REV3L_000068" "g.111699009C>T" "" "" "" "REV3L(NM_002912.3):c.1492G>A (p.(Asp498Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995266" "0" "50" "6" "111714154" "111714154" "subst" "0" "01804" "REV3L_000069" "g.111714154C>T" "" "" "" "REV3L(NM_002912.3):c.587G>A (p.(Gly196Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995267" "0" "30" "6" "111726792" "111726792" "subst" "0" "01804" "REV3L_000070" "g.111726792A>T" "" "" "" "REV3L(NM_002912.3):c.446T>A (p.(Phe149Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035411" "0" "30" "6" "111689034" "111689034" "subst" "4.8788E-5" "01804" "REV3L_000071" "g.111689034A>G" "" "" "" "REV3L(NM_001372078.1):c.5957T>C (p.(Met1986Thr))" "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 REV3L ## Count = 66 "{{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}}" "0000297658" "00017645" "50" "559" "0" "559" "0" "c.559A>T" "r.(?)" "p.(Arg187Trp)" "" "0000307036" "00017645" "50" "3628" "0" "3628" "0" "c.3628G>A" "r.(?)" "p.(Ala1210Thr)" "" "0000307037" "00017645" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Tyr11=)" "" "0000526687" "00017645" "10" "9045" "0" "9045" "0" "c.9045C>A" "r.(?)" "p.(Ile3015=)" "" "0000526689" "00017645" "30" "6685" "0" "6685" "0" "c.6685C>A" "r.(?)" "p.(Gln2229Lys)" "" "0000526690" "00017645" "30" "6087" "0" "6087" "0" "c.6087A>G" "r.(?)" "p.(Gly2029=)" "" "0000526691" "00017645" "50" "4804" "0" "4804" "0" "c.4804G>T" "r.(?)" "p.(Asp1602Tyr)" "" "0000526692" "00017645" "30" "4479" "0" "4479" "0" "c.4479G>A" "r.(?)" "p.(Pro1493=)" "" "0000526693" "00017645" "30" "4254" "0" "4254" "0" "c.4254T>C" "r.(?)" "p.(Asn1418=)" "" "0000526694" "00017645" "50" "3355" "0" "3355" "0" "c.3355A>G" "r.(?)" "p.(Ser1119Gly)" "" "0000526696" "00017645" "10" "2706" "0" "2706" "0" "c.2706A>G" "r.(?)" "p.(Gly902=)" "" "0000526697" "00017645" "30" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Ala731Thr)" "" "0000526698" "00017645" "50" "1925" "0" "1928" "0" "c.1925_1928del" "r.(?)" "p.(Lys642ArgfsTer70)" "" "0000526700" "00017645" "50" "1283" "0" "1283" "0" "c.1283G>T" "r.(?)" "p.(Gly428Val)" "" "0000526701" "00017645" "50" "1080" "0" "1085" "0" "c.1080_1085del" "r.(?)" "p.(Asp360_Lys361del)" "" "0000609907" "00017645" "50" "8818" "0" "8818" "0" "c.8818C>T" "r.(?)" "p.(Arg2940Cys)" "" "0000609908" "00017645" "30" "7257" "0" "7257" "0" "c.7257C>T" "r.(?)" "p.(Ala2419=)" "" "0000609909" "00017645" "30" "5444" "0" "5444" "0" "c.5444A>G" "r.(?)" "p.(Asn1815Ser)" "" "0000609910" "00017645" "50" "4432" "0" "4432" "0" "c.4432G>A" "r.(?)" "p.(Gly1478Ser)" "" "0000609911" "00017645" "30" "4214" "0" "4214" "0" "c.4214A>G" "r.(?)" "p.(Asn1405Ser)" "" "0000609912" "00017645" "30" "1923" "0" "1928" "0" "c.1923_1928del" "r.(?)" "p.(His641_Glu643delinsGln)" "" "0000609913" "00017645" "50" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Cys579Tyr)" "" "0000621616" "00017645" "50" "9313" "0" "9313" "0" "c.9313C>G" "r.(?)" "p.(Pro3105Ala)" "" "0000621617" "00017645" "30" "8682" "0" "8682" "0" "c.8682T>C" "r.(?)" "p.(Cys2894=)" "" "0000621618" "00017645" "50" "7300" "5" "7300" "5" "c.7300+5G>C" "r.spl?" "p.?" "" "0000655455" "00017645" "30" "7029" "0" "7029" "0" "c.7029A>G" "r.(?)" "p.(Thr2343=)" "" "0000655457" "00017645" "30" "4728" "0" "4728" "0" "c.4728G>A" "r.(?)" "p.(Ser1576=)" "" "0000655458" "00017645" "50" "1486" "0" "1486" "0" "c.1486A>G" "r.(?)" "p.(Thr496Ala)" "" "0000720628" "00017645" "50" "6140" "0" "6140" "0" "c.6140C>T" "r.(?)" "p.(Pro2047Leu)" "" "0000720629" "00017645" "50" "-47" "0" "-47" "0" "c.-47C>T" "r.(?)" "p.(=)" "" "0000763602" "00017645" "90" "1096" "1" "1096" "1" "c.1096+1G>A" "r.[948_1096del,863_1096del]" "p.?" "9i" "0000763605" "00017645" "90" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Glu387Gly)" "" "0000763606" "00017645" "90" "2662" "0" "2662" "0" "c.2662A>T" "r.(?)" "p.(Lys888Ter)" "" "0000763612" "00017645" "90" "8492" "0" "8492" "0" "c.8492C>G" "r.(?)" "p.(Thr2831Arg)" "" "0000802260" "00017645" "50" "8647" "0" "8647" "0" "c.8647A>G" "r.(?)" "p.(Ile2883Val)" "" "0000802261" "00017645" "50" "7928" "0" "7928" "0" "c.7928A>G" "r.(?)" "p.(Tyr2643Cys)" "" "0000802262" "00017645" "50" "4717" "0" "4717" "0" "c.4717C>T" "r.(?)" "p.(Arg1573Trp)" "" "0000802263" "00017645" "50" "3505" "0" "3505" "0" "c.3505C>T" "r.(?)" "p.(Arg1169Cys)" "" "0000802264" "00017645" "50" "1790" "0" "1790" "0" "c.1790A>G" "r.(?)" "p.(Glu597Gly)" "" "0000851036" "00017645" "50" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Ser82Gly)" "" "0000860077" "00017645" "30" "5739" "0" "5739" "0" "c.5739T>G" "r.(?)" "p.(Ser1913=)" "" "0000860078" "00017645" "30" "5256" "0" "5256" "0" "c.5256A>T" "r.(?)" "p.(Thr1752=)" "" "0000886986" "00017645" "30" "9275" "0" "9275" "0" "c.9275G>A" "r.(?)" "p.(Cys3092Tyr)" "" "0000886987" "00017645" "50" "9147" "0" "9148" "0" "c.9147_9148del" "r.(?)" "p.(Gln3050Alafs*5)" "" "0000886988" "00017645" "50" "8647" "0" "8647" "0" "c.8647A>G" "r.(?)" "p.(Ile2883Val)" "" "0000886989" "00017645" "30" "7420" "-3" "7420" "-3" "c.7420-3dup" "r.spl?" "p.?" "" "0000912380" "00017645" "50" "2468" "0" "2468" "0" "c.2468C>T" "r.(?)" "p.(Pro823Leu)" "" "0000924405" "00017645" "50" "3092" "0" "3092" "0" "c.3092C>T" "r.(?)" "p.(Pro1031Leu)" "" "0000948613" "00017645" "30" "6321" "0" "6321" "0" "c.6321A>T" "r.(?)" "p.(Glu2107Asp)" "" "0000963779" "00017645" "50" "8462" "0" "8462" "0" "c.8462A>T" "r.(?)" "p.(Glu2821Val)" "" "0000963780" "00017645" "10" "7420" "-3" "7420" "-3" "c.7420-3del" "r.spl?" "p.?" "" "0000995254" "00017645" "50" "8747" "0" "8747" "0" "c.8747G>A" "r.(?)" "p.(Ser2916Asn)" "" "0000995255" "00017645" "30" "8710" "0" "8710" "0" "c.8710A>G" "r.(?)" "p.(Ile2904Val)" "" "0000995256" "00017645" "30" "5300" "0" "5300" "0" "c.5300C>T" "r.(?)" "p.(Ala1767Val)" "" "0000995257" "00017645" "30" "3950" "0" "3950" "0" "c.3950A>G" "r.(?)" "p.(Asp1317Gly)" "" "0000995258" "00017645" "30" "3842" "0" "3842" "0" "c.3842C>T" "r.(?)" "p.(Ser1281Phe)" "" "0000995259" "00017645" "30" "3690" "0" "3690" "0" "c.3690A>C" "r.(?)" "p.(Lys1230Asn)" "" "0000995260" "00017645" "30" "3606" "0" "3606" "0" "c.3606T>G" "r.(?)" "p.(Asp1202Glu)" "" "0000995261" "00017645" "50" "3358" "0" "3358" "0" "c.3358C>A" "r.(?)" "p.(Pro1120Thr)" "" "0000995262" "00017645" "50" "3024" "0" "3024" "0" "c.3024A>T" "r.(?)" "p.(Glu1008Asp)" "" "0000995263" "00017645" "50" "2935" "0" "2935" "0" "c.2935A>G" "r.(?)" "p.(Ile979Val)" "" "0000995264" "00017645" "30" "2637" "0" "2637" "0" "c.2637A>T" "r.(?)" "p.(Lys879Asn)" "" "0000995265" "00017645" "30" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Asp498Asn)" "" "0000995266" "00017645" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Gly196Glu)" "" "0000995267" "00017645" "30" "446" "0" "446" "0" "c.446T>A" "r.(?)" "p.(Phe149Tyr)" "" "0001035411" "00017645" "30" "5957" "0" "5957" "0" "c.5957T>C" "r.(?)" "p.(Met1986Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000363156" "0000763602" "0000363159" "0000763605" "0000363160" "0000763606" "0000363163" "0000763612"