### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LIFR) # 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}}" "LIFR" "leukemia inhibitory factor receptor alpha" "5" "p13-p12" "unknown" "NG_011817.1" "UD_132118318018" "" "https://www.LOVD.nl/LIFR" "" "1" "6597" "3977" "151443" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LIFR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-22 14:07:56" "00000" "2025-07-08 13:22:38" ## 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}}" "00011123" "LIFR" "transcript variant 2" "001" "NM_002310.5" "" "NP_002301.1" "" "" "" "-164" "9926" "3294" "38595507" "38475065" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02377" "STWS;SJS2" "Stuve-Wiedemann syndrome (STWS; Schwartz-Jampel type 2 syndrome (SJS-2))" "AR" "601559" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LIFR" "02377" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00036058" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00132067" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "F" "no" "Brazil" "" "0" "" "" "" "Pat31" "00132068" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" "" "0" "" "" "" "2" "00293870" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293871" "" "" "" "178" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305034" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331506" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "14DG1442" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00132067" "02377" "00132068" "02377" "00293870" "00198" "00293871" "00198" "00305034" "00198" "00331506" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02377, 05517 ## Count = 3 "{{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}}" "0000104271" "02377" "00132067" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104272" "02377" "00132068" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249698" "05517" "00331506" "00000" "Familial, autosomal recessive" "" "Arthrogryposis multiplex congenita, Scoliosis, Feeding difficulties, Keratitis, Global develo No" "" "" "" "" "" "" "" "" "Campomelic dysplasia and related disorders" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036128" "00036058" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000132906" "00132067" "1" "01396" "01396" "2017-10-18 18:12:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000132907" "00132068" "1" "01396" "01396" "2017-10-18 18:16:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000295038" "00293870" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295039" "00293871" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306163" "00305034" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332725" "00331506" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000036128" "LIFR" "0000132906" "LIFR" "0000132907" "LIFR" "0000332725" "LIFR" ## 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 = 65 "{{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}}" "0000063253" "1" "90" "5" "38511975" "38511975" "dup" "0" "01164" "LIFR_000001" "g.38511975dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38511873dup" "" "pathogenic" "" "0000222088" "3" "70" "5" "38502904" "38502904" "subst" "0" "01396" "LIFR_000002" "g.38502904A>C" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PP4, PM3, PM2, PP3" "Germline" "" "" "0" "" "" "g.38502802A>C" "" "likely pathogenic (recessive)" "" "0000222089" "3" "70" "5" "38502904" "38502904" "subst" "0" "01396" "LIFR_000002" "g.38502904A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38502802A>C" "" "likely pathogenic" "" "0000330348" "0" "50" "5" "38481770" "38481770" "subst" "0.000170666" "01804" "LIFR_000003" "g.38481770T>C" "" "" "" "LIFR(NM_001127671.2):c.3221A>G (p.(Asp1074Gly)), LIFR(NM_002310.6):c.3221A>G (p.D1074G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38481668T>C" "" "VUS" "" "0000330349" "0" "30" "5" "38485971" "38485971" "subst" "0.00277787" "01804" "LIFR_000004" "g.38485971T>C" "" "" "" "LIFR(NM_001127671.1):c.2447A>G (p.(Asp816Gly)), LIFR(NM_001127671.2):c.2447A>G (p.D816G), LIFR(NM_002310.6):c.2447A>G (p.D816G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38485869T>C" "" "likely benign" "" "0000330350" "0" "30" "5" "38530704" "38530704" "subst" "0.000227622" "01804" "LIFR_000006" "g.38530704C>T" "" "" "" "LIFR(NM_001127671.1):c.46G>A (p.(Asp16Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38530602C>T" "" "likely benign" "" "0000343276" "0" "90" "5" "38490385" "38490385" "subst" "4.11991E-5" "02327" "LIFR_000007" "g.38490385G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38490283G>A" "" "pathogenic" "" "0000525693" "0" "50" "5" "38482055" "38482055" "subst" "0" "01804" "LIFR_000011" "g.38482055G>A" "" "" "" "LIFR(NM_001127671.1):c.2936C>T (p.(Ser979Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38481953G>A" "" "VUS" "" "0000525694" "0" "30" "5" "38484890" "38484890" "subst" "0.00351037" "01804" "LIFR_000012" "g.38484890G>A" "" "" "" "LIFR(NM_001127671.1):c.2578C>T (p.(Arg860Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38484788G>A" "" "likely benign" "" "0000525695" "0" "30" "5" "38486008" "38486008" "subst" "0.000471089" "01804" "LIFR_000013" "g.38486008T>C" "" "" "" "LIFR(NM_001127671.1):c.2410A>G (p.(Lys804Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38485906T>C" "" "likely benign" "" "0000525696" "0" "30" "5" "38489294" "38489294" "subst" "4.07037E-6" "01804" "LIFR_000014" "g.38489294A>C" "" "" "" "LIFR(NM_001127671.1):c.2221T>G (p.(Leu741Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38489192A>C" "" "likely benign" "" "0000525697" "0" "30" "5" "38493874" "38493874" "subst" "0.00885779" "01804" "LIFR_000015" "g.38493874T>C" "" "" "" "LIFR(NM_001127671.1):c.1899A>G (p.(Ile633Met)), LIFR(NM_001127671.2):c.1899A>G (p.I633M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38493772T>C" "" "likely benign" "" "0000525698" "0" "10" "5" "38496637" "38496637" "subst" "0.0214112" "01804" "LIFR_000016" "g.38496637C>T" "" "" "" "LIFR(NM_001127671.1):c.1732G>A (p.(Asp578Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38496535C>T" "" "benign" "" "0000525702" "0" "10" "5" "38528977" "38528980" "del" "0" "02327" "LIFR_000020" "g.38528977_38528980del" "" "" "" "LIFR(NM_001364297.2):c.143-13_143-10delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38528875_38528878del" "" "benign" "" "0000525703" "0" "30" "5" "38528979" "38528980" "dup" "0" "01943" "LIFR_000021" "g.38528979_38528980dup" "" "" "" "LIFR(NM_001127671.2):c.143-11_143-10dupGT, LIFR(NM_002310.6):c.143-11_143-10dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38528877_38528878dup" "" "likely benign" "" "0000525704" "0" "50" "5" "38530722" "38530722" "subst" "3.25251E-5" "01804" "LIFR_000022" "g.38530722G>A" "" "" "" "LIFR(NM_001127671.1):c.28C>T (p.(Arg10Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38530620G>A" "" "VUS" "" "0000651727" "1" "70" "5" "38506604" "38506604" "subst" "0" "03575" "LIFR_000024" "g.38506604C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205647}" "Germline" "" "rs786205647" "0" "" "" "g.38506502C>T" "" "likely pathogenic" "" "0000651728" "1" "30" "5" "38527308" "38527308" "subst" "0.040559" "03575" "LIFR_000018" "g.38527308G>A" "178/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "178 heterozygous; {DB:CLININrs3729734}" "Germline" "" "rs3729734" "0" "" "" "g.38527206G>A" "" "likely benign" "" "0000669851" "3" "30" "5" "38527308" "38527308" "subst" "0.040559" "03575" "LIFR_000018" "g.38527308G>A" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs3729734}" "Germline" "" "rs3729734" "0" "" "" "g.38527206G>A" "" "likely benign" "" "0000720435" "0" "10" "5" "38528977" "38528980" "del" "0" "02329" "LIFR_000020" "g.38528977_38528980del" "" "" "" "LIFR(NM_001364297.2):c.143-13_143-10delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720436" "0" "10" "5" "38528979" "38528980" "del" "0" "02329" "LIFR_000009" "g.38528979_38528980del" "" "" "" "LIFR(NM_001127671.2):c.143-11_143-10delGT, LIFR(NM_002310.6):c.143-11_143-10delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000730007" "3" "90" "5" "38506604" "38506604" "subst" "0" "00000" "LIFR_000024" "g.38506604C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_002310.5:c.1121+1G>A" "" "Germline" "" "" "0" "" "" "g.38506502C>T" "" "likely pathogenic (recessive)" "" "0000802101" "0" "30" "5" "38481952" "38481952" "subst" "0.000276726" "01943" "LIFR_000025" "g.38481952C>G" "" "" "" "LIFR(NM_001127671.2):c.3039G>C (p.V1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802102" "0" "30" "5" "38493782" "38493782" "subst" "0.00149849" "01804" "LIFR_000026" "g.38493782G>A" "" "" "" "LIFR(NM_001127671.1):c.1991C>T (p.(Ser664Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802103" "0" "30" "5" "38493836" "38493836" "subst" "0.00201418" "01804" "LIFR_000027" "g.38493836G>T" "" "" "" "LIFR(NM_001127671.1):c.1937C>A (p.(Thr646Asn)), LIFR(NM_001127671.2):c.1937C>A (p.T646N), LIFR(NM_002310.6):c.1937C>A (p.T646N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802104" "0" "10" "5" "38528977" "38528980" "dup" "0" "02329" "LIFR_000028" "g.38528977_38528980dup" "" "" "" "LIFR(NM_001127671.2):c.143-15_143-12dupGTGT, LIFR(NM_002310.6):c.143-13_143-10dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802105" "0" "10" "5" "38528979" "38528980" "dup" "0" "02329" "LIFR_000021" "g.38528979_38528980dup" "" "" "" "LIFR(NM_001127671.2):c.143-11_143-10dupGT, LIFR(NM_002310.6):c.143-11_143-10dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850917" "0" "50" "5" "38481770" "38481770" "subst" "0.000170666" "02325" "LIFR_000003" "g.38481770T>C" "" "" "" "LIFR(NM_001127671.2):c.3221A>G (p.(Asp1074Gly)), LIFR(NM_002310.6):c.3221A>G (p.D1074G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850918" "0" "30" "5" "38528838" "38528838" "subst" "0.000421814" "01804" "LIFR_000030" "g.38528838T>C" "" "" "" "LIFR(NM_001127671.1):c.247A>G (p.(Ile83Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859928" "0" "10" "5" "38484860" "38484860" "subst" "0.000985206" "02329" "LIFR_000029" "g.38484860A>G" "" "" "" "LIFR(NM_001127671.2):c.2591+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886839" "0" "30" "5" "38481703" "38481703" "subst" "0.00142978" "02329" "LIFR_000031" "g.38481703G>T" "" "" "" "LIFR(NM_001127671.2):c.3288C>A (p.N1096K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886840" "0" "10" "5" "38482225" "38482225" "subst" "0.00131437" "02329" "LIFR_000032" "g.38482225A>G" "" "" "" "LIFR(NM_001127671.2):c.2766T>C (p.D922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886841" "0" "10" "5" "38485971" "38485971" "subst" "0.00277787" "02329" "LIFR_000004" "g.38485971T>C" "" "" "" "LIFR(NM_001127671.1):c.2447A>G (p.(Asp816Gly)), LIFR(NM_001127671.2):c.2447A>G (p.D816G), LIFR(NM_002310.6):c.2447A>G (p.D816G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886842" "0" "30" "5" "38490403" "38490403" "subst" "4.17488E-6" "02329" "LIFR_000033" "g.38490403G>A" "" "" "" "LIFR(NM_001127671.2):c.2066-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886843" "0" "10" "5" "38493836" "38493836" "subst" "0.00201418" "02329" "LIFR_000027" "g.38493836G>T" "" "" "" "LIFR(NM_001127671.1):c.1937C>A (p.(Thr646Asn)), LIFR(NM_001127671.2):c.1937C>A (p.T646N), LIFR(NM_002310.6):c.1937C>A (p.T646N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886844" "0" "10" "5" "38493905" "38493905" "subst" "0.00352279" "02329" "LIFR_000034" "g.38493905G>A" "" "" "" "LIFR(NM_001127671.2):c.1886-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886845" "0" "30" "5" "38496579" "38496579" "subst" "4.06131E-5" "01804" "LIFR_000035" "g.38496579C>T" "" "" "" "LIFR(NM_001127671.1):c.1790G>A (p.(Arg597Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886846" "0" "10" "5" "38510603" "38510603" "subst" "0.00432094" "02329" "LIFR_000036" "g.38510603G>A" "" "" "" "LIFR(NM_001127671.2):c.954C>T (p.T318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886847" "0" "10" "5" "38527241" "38527244" "del" "0" "02329" "LIFR_000037" "g.38527241_38527244del" "" "" "" "LIFR(NM_001127671.2):c.397+17_397+20delAAAC, LIFR(NM_002310.6):c.397+17_397+20delAAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912338" "0" "30" "5" "38482081" "38482081" "subst" "4.06233E-6" "02329" "LIFR_000038" "g.38482081T>C" "" "" "" "LIFR(NM_001127671.2):c.2910A>G (p.A970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912339" "0" "30" "5" "38493722" "38493722" "subst" "4.06207E-6" "01804" "LIFR_000039" "g.38493722G>C" "" "" "" "LIFR(NM_001127671.1):c.2051C>G (p.(Thr684Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912340" "0" "30" "5" "38511874" "38511874" "subst" "0.000525771" "02329" "LIFR_000040" "g.38511874C>A" "" "" "" "LIFR(NM_001127671.2):c.736+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924337" "0" "30" "5" "38482057" "38482057" "subst" "0.000812394" "02329" "LIFR_000023" "g.38482057C>T" "" "" "" "LIFR(NM_001127671.2):c.2934G>A (p.Q978=), LIFR(NM_002310.6):c.2934G>A (p.Q978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924338" "0" "50" "5" "38493869" "38493870" "ins" "0" "01804" "LIFR_000041" "g.38493869_38493870insA" "" "" "" "LIFR(NM_001127671.1):c.1903_1904insT (p.(Gln635LeufsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924339" "0" "10" "5" "38528979" "38528980" "del" "0" "02326" "LIFR_000009" "g.38528979_38528980del" "" "" "" "LIFR(NM_001127671.2):c.143-11_143-10delGT, LIFR(NM_002310.6):c.143-11_143-10delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924340" "0" "30" "5" "38530672" "38530672" "subst" "0" "02329" "LIFR_000042" "g.38530672G>A" "" "" "" "LIFR(NM_001127671.2):c.78C>T (p.F26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929074" "0" "50" "5" "38482051" "38482051" "subst" "0" "01804" "LIFR_000043" "g.38482051C>G" "" "" "" "LIFR(NM_001127671.1):c.2940G>C (p.(Met980Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929075" "0" "30" "5" "38493858" "38493858" "subst" "0.00231884" "01804" "LIFR_000044" "g.38493858T>A" "" "" "" "LIFR(NM_001127671.1):c.1915A>T (p.(Met639Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929076" "0" "10" "5" "38528979" "38528980" "dup" "0" "02326" "LIFR_000021" "g.38528979_38528980dup" "" "" "" "LIFR(NM_001127671.2):c.143-11_143-10dupGT, LIFR(NM_002310.6):c.143-11_143-10dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948559" "0" "30" "5" "38484867" "38484867" "subst" "0" "02329" "LIFR_000045" "g.38484867G>A" "" "" "" "LIFR(NM_001127671.2):c.2591+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963610" "0" "30" "5" "38482054" "38482054" "subst" "5.28047E-5" "02329" "LIFR_000046" "g.38482054C>T" "" "" "" "LIFR(NM_001127671.2):c.2937G>A (p.S979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963611" "0" "30" "5" "38482057" "38482057" "subst" "0.000812394" "02326" "LIFR_000023" "g.38482057C>T" "" "" "" "LIFR(NM_001127671.2):c.2934G>A (p.Q978=), LIFR(NM_002310.6):c.2934G>A (p.Q978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963612" "0" "30" "5" "38485971" "38485971" "subst" "0.00277787" "02326" "LIFR_000004" "g.38485971T>C" "" "" "" "LIFR(NM_001127671.1):c.2447A>G (p.(Asp816Gly)), LIFR(NM_001127671.2):c.2447A>G (p.D816G), LIFR(NM_002310.6):c.2447A>G (p.D816G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963613" "0" "30" "5" "38502919" "38502919" "subst" "0" "02329" "LIFR_000047" "g.38502919A>T" "" "" "" "LIFR(NM_001127671.2):c.1438-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963614" "0" "10" "5" "38528977" "38528980" "dup" "0" "02326" "LIFR_000028" "g.38528977_38528980dup" "" "" "" "LIFR(NM_001127671.2):c.143-15_143-12dupGTGT, LIFR(NM_002310.6):c.143-13_143-10dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976797" "0" "30" "5" "38481859" "38481859" "subst" "9.35819E-5" "02326" "LIFR_000048" "g.38481859A>G" "" "" "" "LIFR(NM_002310.6):c.3132T>C (p.S1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976798" "0" "30" "5" "38493836" "38493836" "subst" "0.00201418" "02326" "LIFR_000027" "g.38493836G>T" "" "" "" "LIFR(NM_001127671.1):c.1937C>A (p.(Thr646Asn)), LIFR(NM_001127671.2):c.1937C>A (p.T646N), LIFR(NM_002310.6):c.1937C>A (p.T646N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976799" "0" "30" "5" "38503940" "38503940" "subst" "0" "02329" "LIFR_000049" "g.38503940A>G" "" "" "" "LIFR(NM_001127671.2):c.1437+138T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995050" "0" "50" "5" "38481761" "38481761" "subst" "0" "01804" "LIFR_000050" "g.38481761G>C" "" "" "" "LIFR(NM_001127671.1):c.3230C>G (p.(Ser1077Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995051" "0" "50" "5" "38482749" "38482749" "subst" "0" "01804" "LIFR_000051" "g.38482749G>A" "" "" "" "LIFR(NM_001127671.1):c.2612C>T (p.(Pro871Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995052" "0" "90" "5" "38530729" "38530729" "del" "0" "01804" "LIFR_000052" "g.38530729del" "" "" "" "LIFR(NM_001127671.1):c.23delT (p.(Leu8fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014129" "0" "30" "5" "38493802" "38493802" "subst" "4.06095E-6" "02329" "LIFR_000053" "g.38493802G>A" "" "" "" "LIFR(NM_001127671.2):c.1971C>T (p.Y657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025102" "0" "10" "5" "38493874" "38493874" "subst" "0.00885779" "02329" "LIFR_000015" "g.38493874T>C" "" "" "" "LIFR(NM_001127671.1):c.1899A>G (p.(Ile633Met)), LIFR(NM_001127671.2):c.1899A>G (p.I633M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035226" "0" "70" "5" "38523603" "38523604" "del" "0" "01804" "LIFR_000054" "g.38523603_38523604del" "" "" "" "LIFR(NM_001127671.2):c.478_479del (p.(Arg160Glyfs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046029" "0" "10" "5" "38527241" "38527244" "del" "0" "02326" "LIFR_000037" "g.38527241_38527244del" "" "" "" "LIFR(NM_001127671.2):c.397+17_397+20delAAAC, LIFR(NM_002310.6):c.397+17_397+20delAAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 LIFR ## Count = 65 "{{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}}" "0000063253" "00011123" "90" "653" "0" "653" "0" "c.653dup" "r.(?)" "p.(Glu219Glyfs*3)" "" "0000222088" "00011123" "70" "1438" "-3" "1438" "-3" "c.1438-3T>G" "r.spl?" "p.?" "11" "0000222089" "00011123" "70" "1438" "-3" "1438" "-3" "c.1438-3T>G" "r.spl?" "p.?" "11" "0000330348" "00011123" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asp1074Gly)" "" "0000330349" "00011123" "30" "2447" "0" "2447" "0" "c.2447A>G" "r.(?)" "p.(Asp816Gly)" "" "0000330350" "00011123" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Asp16Asn)" "" "0000343276" "00011123" "90" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Ter)" "" "0000525693" "00011123" "50" "2936" "0" "2936" "0" "c.2936C>T" "r.(?)" "p.(Ser979Leu)" "" "0000525694" "00011123" "30" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "" "0000525695" "00011123" "30" "2410" "0" "2410" "0" "c.2410A>G" "r.(?)" "p.(Lys804Glu)" "" "0000525696" "00011123" "30" "2221" "0" "2221" "0" "c.2221T>G" "r.(?)" "p.(Leu741Val)" "" "0000525697" "00011123" "30" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(Ile633Met)" "" "0000525698" "00011123" "10" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Asp578Asn)" "" "0000525702" "00011123" "10" "143" "-13" "143" "-10" "c.143-13_143-10del" "r.(=)" "p.(=)" "" "0000525703" "00011123" "30" "143" "-11" "143" "-10" "c.143-11_143-10dup" "r.(=)" "p.(=)" "" "0000525704" "00011123" "50" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Arg10Ter)" "" "0000651727" "00011123" "70" "1121" "1" "1121" "1" "c.1121+1G>A" "r.spl?" "p.?" "" "0000651728" "00011123" "30" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(His116Tyr)" "" "0000669851" "00011123" "30" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(His116Tyr)" "" "0000720435" "00011123" "10" "143" "-13" "143" "-10" "c.143-13_143-10del" "r.(=)" "p.(=)" "" "0000720436" "00011123" "10" "143" "-11" "143" "-10" "c.143-11_143-10del" "r.(=)" "p.(=)" "" "0000730007" "00011123" "90" "1121" "1" "1121" "1" "c.1121+1G>A" "r.spl?" "p.?" "" "0000802101" "00011123" "30" "3039" "0" "3039" "0" "c.3039G>C" "r.(?)" "p.(Val1013=)" "" "0000802102" "00011123" "30" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Ser664Leu)" "" "0000802103" "00011123" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Thr646Asn)" "" "0000802104" "00011123" "10" "143" "-13" "143" "-10" "c.143-13_143-10dup" "r.(=)" "p.(=)" "" "0000802105" "00011123" "10" "143" "-11" "143" "-10" "c.143-11_143-10dup" "r.(=)" "p.(=)" "" "0000850917" "00011123" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asp1074Gly)" "" "0000850918" "00011123" "30" "247" "0" "247" "0" "c.247A>G" "r.(?)" "p.(Ile83Val)" "" "0000859928" "00011123" "10" "2591" "17" "2591" "17" "c.2591+17T>C" "r.(=)" "p.(=)" "" "0000886839" "00011123" "30" "3288" "0" "3288" "0" "c.3288C>A" "r.(?)" "p.(Asn1096Lys)" "" "0000886840" "00011123" "10" "2766" "0" "2766" "0" "c.2766T>C" "r.(?)" "p.(Asp922=)" "" "0000886841" "00011123" "10" "2447" "0" "2447" "0" "c.2447A>G" "r.(?)" "p.(Asp816Gly)" "" "0000886842" "00011123" "30" "2066" "-10" "2066" "-10" "c.2066-10C>T" "r.(=)" "p.(=)" "" "0000886843" "00011123" "10" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Thr646Asn)" "" "0000886844" "00011123" "10" "1886" "-18" "1886" "-18" "c.1886-18C>T" "r.(=)" "p.(=)" "" "0000886845" "00011123" "30" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597Gln)" "" "0000886846" "00011123" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Thr318=)" "" "0000886847" "00011123" "10" "397" "17" "397" "20" "c.397+17_397+20del" "r.(=)" "p.(=)" "" "0000912338" "00011123" "30" "2910" "0" "2910" "0" "c.2910A>G" "r.(?)" "p.(Ala970=)" "" "0000912339" "00011123" "30" "2051" "0" "2051" "0" "c.2051C>G" "r.(?)" "p.(Thr684Ser)" "" "0000912340" "00011123" "30" "736" "18" "736" "18" "c.736+18G>T" "r.(=)" "p.(=)" "" "0000924337" "00011123" "30" "2934" "0" "2934" "0" "c.2934G>A" "r.(?)" "p.(Gln978=)" "" "0000924338" "00011123" "50" "1903" "0" "1904" "0" "c.1903_1904insT" "r.(?)" "p.(Gln635Leufs*26)" "" "0000924339" "00011123" "10" "143" "-11" "143" "-10" "c.143-11_143-10del" "r.(=)" "p.(=)" "" "0000924340" "00011123" "30" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Phe26=)" "" "0000929074" "00011123" "50" "2940" "0" "2940" "0" "c.2940G>C" "r.(?)" "p.(Met980Ile)" "" "0000929075" "00011123" "30" "1915" "0" "1915" "0" "c.1915A>T" "r.(?)" "p.(Met639Leu)" "" "0000929076" "00011123" "10" "143" "-11" "143" "-10" "c.143-11_143-10dup" "r.(=)" "p.(=)" "" "0000948559" "00011123" "30" "2591" "10" "2591" "10" "c.2591+10C>T" "r.(=)" "p.(=)" "" "0000963610" "00011123" "30" "2937" "0" "2937" "0" "c.2937G>A" "r.(?)" "p.(=)" "" "0000963611" "00011123" "30" "2934" "0" "2934" "0" "c.2934G>A" "r.(?)" "p.(Gln978=)" "" "0000963612" "00011123" "30" "2447" "0" "2447" "0" "c.2447A>G" "r.(?)" "p.(Asp816Gly)" "" "0000963613" "00011123" "30" "1438" "-18" "1438" "-18" "c.1438-18T>A" "r.(=)" "p.(=)" "" "0000963614" "00011123" "10" "143" "-13" "143" "-10" "c.143-13_143-10dup" "r.(=)" "p.(=)" "" "0000976797" "00011123" "30" "3132" "0" "3132" "0" "c.3132T>C" "r.(?)" "p.(=)" "" "0000976798" "00011123" "30" "1937" "0" "1937" "0" "c.1937C>A" "r.(?)" "p.(Thr646Asn)" "" "0000976799" "00011123" "30" "1437" "138" "1437" "138" "c.1437+138T>C" "r.(=)" "p.(=)" "" "0000995050" "00011123" "50" "3230" "0" "3230" "0" "c.3230C>G" "r.(?)" "p.(Ser1077Cys)" "" "0000995051" "00011123" "50" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Pro871Leu)" "" "0000995052" "00011123" "90" "23" "0" "23" "0" "c.23del" "r.(?)" "p.(Leu8*)" "" "0001014129" "00011123" "30" "1971" "0" "1971" "0" "c.1971C>T" "r.(?)" "p.(=)" "" "0001025102" "00011123" "10" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(Ile633Met)" "" "0001035226" "00011123" "70" "478" "0" "479" "0" "c.478_479del" "r.(?)" "p.(Arg160Glyfs*15)" "" "0001046029" "00011123" "10" "397" "17" "397" "20" "c.397+17_397+20del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000036128" "0000063253" "0000132906" "0000222088" "0000132907" "0000222089" "0000295038" "0000651727" "0000295039" "0000651728" "0000306163" "0000669851" "0000332725" "0000730007"