### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LMNB1) # 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}}" "LMNB1" "lamin B1" "5" "q23.2" "unknown" "NG_008360.2" "UD_132118811738" "" "https://www.LOVD.nl/LMNB1" "" "1" "6637" "4001" "150340" "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/LMNB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-19 21:04:44" "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}}" "00011446" "LMNB1" "transcript variant 1" "001" "NM_005573.3" "" "NP_005564.1" "" "" "" "-886" "2517" "1761" "126112315" "126172712" "" "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" "01496" "ADLD" "leukodystrophy, adult-onset, autosomal dominant" "AD" "169500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-19 21:03:07" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LMNB1" "01496" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00228220" "" "" "" "30" "" "00000" "" "2-generation family, 3 affecteds" "" "no" "United States" "" "0" "" "" "" "" "00228221" "" "" "" "16" "" "00000" "" "4-generation family, 16 affecteds" "" "no" "United States" "" "0" "" "" "Irish" "" "00228222" "" "" "" "30" "" "00000" "" "5-generation family, 30 affecteds" "" "no" "United States" "" "0" "" "" "Irish" "" "00228223" "" "" "" "7" "" "00000" "" "3-generation family, 7 affecteds and 1 asymptomatic carrier (young)" "" "no" "United States" "" "0" "" "" "" "" "00228224" "" "" "" "1" "" "03011" "Giorgio et al., 2013 Human Mutation" "" "" "no" "" "" "0" "" "" "" "" "00228225" "" "" "" "1" "" "03011" "" "" "" "no" "" "" "0" "" "" "" "" "00293710" "" "" "" "169" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305004" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311164" "" "" "" "1" "" "00006" "{PMID:Cristofoli 2020:32910914}" "" "M" "no" "Belgium" "" "0" "" "" "white" "Pat1" "00311165" "" "" "" "2" "" "00006" "{PMID:Cristofoli 2020:32910914}" "family, affected mother/daughter; daughter" "F" "no" "Belgium" "" "0" "" "" "white" "Pat2" "00311166" "" "" "" "1" "" "00006" "{PMID:Cristofoli 2020:32910914}" "" "F" "no" "Italy" "" "0" "" "" "white" "Pat3" "00311167" "" "" "" "1" "" "00006" "{PMID:Cristofoli 2020:32910914}" "" "F" "" "United States" "" "0" "" "" "white" "Pat4" "00311168" "" "" "" "3" "" "00006" "{PMID:Cristofoli 2020:32910914}" "family, 3 affected (F, 2M), father mosaic" "F" "" "Spain" "" "0" "" "" "Arab" "Pat5" "00311169" "" "" "00311168" "1" "" "00006" "{PMID:Cristofoli 2020:32910914}" "brother" "M" "" "Spain" "" "0" "" "" "Arab" "Pat6" "00311170" "" "" "00311168" "1" "" "00006" "{PMID:Cristofoli 2020:32910914}" "brother" "M" "" "Spain" "" "0" "" "" "Arab" "Pat7" "00414354" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP21" "00457321" "" "" "" "1" "cc_by-nc-sa_4.0;1" "04772" "" "" "M" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00228220" "01496" "00228221" "01496" "00228222" "01496" "00228223" "01496" "00228224" "01496" "00228225" "01496" "00293710" "00198" "00305004" "00198" "00311164" "00198" "00311165" "00198" "00311166" "00198" "00311167" "00198" "00311168" "00198" "00311169" "00198" "00311170" "00198" "00414354" "00198" "00457321" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01496, 05421 ## Count = 16 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000172150" "01496" "00228220" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172151" "01496" "00228221" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172152" "01496" "00228222" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172153" "01496" "00228223" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172154" "01496" "00228224" "03011" "Familial, autosomal dominant" "" "adult onset demyelination" "" "" "" "" "" "" "" "" "" "" "" "0000172155" "01496" "00228225" "03011" "Familial, autosomal dominant" "" "adult onset demyelination" "" "" "" "" "" "" "" "" "" "" "" "0000236419" "00198" "00311164" "00006" "Isolated (sporadic)" "9y6m" "see paper; ..., birth length 46 cm, weight 2610 g, OFC 25 cm; length 122 cm (-2.7 SD), OFC 42 cm (-6.8 SD); no facial dysmorphism; moderate to severe developmental delay/intellectual disability; MRI small brain, normal structures; no neurological abnormalities; no visual impairment; no skeletal abnormalities; feeding difficulties" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000236420" "00198" "00311165" "00006" "Familial, autosomal dominant" "6y" "see paper; ..., birth length 51 cm, weight 3460 g, OFC 32 cm; length 119.5 cm (+0.7 SD), OFC 45.1 cm (-3.6 SD); pronounced and long philtrum, short nose, trigonocephaly; mild developmental delay/intellectual disability; MRI small brain, normal structures; no neurological abnormalities; no visual impairment; no skeletal abnormalities; no gastro-intestinal abnormalities; OFC mother 50.5 cm (−2.5 SD), low educational level, long philtrum" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000236421" "00198" "00311166" "00006" "Isolated (sporadic)" "5y7m" "see paper; ..., birth length 42 cm, weight 2190 g, OFC 28 cm (35w); length 92 cm (-4.8 SD), OFC 36.5 cm (-12 SD); prominent nasal root, protruding tongue; severe developmental delay/intellectual disability; MRI brain pachygyria, thin corpus callosum; spasticity limbs, inability to walk; no visual impairment; scoliosis; feeding difficulties; patent foramen ovale" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000236422" "00198" "00311167" "00006" "Isolated (sporadic)" "2y8m" "see paper; ..., birth length 48.9 cm, weight 2890 g, OFC 29 cm; length 81 cm (-2.6 SD), OFC 36.1 cm (-12 SD); fullness glabellar region, bitemporal narrowing, prominent eyes and eyelashes, upslanting palpebral fissures; significant developmental delay; MRI brain simplified gyral pattern, dysgenesis of corpus callosum; seizures (controlled); suspected cortical visual impairment; no skeletal abnormalities; feeding difficulties, G-tube; recurrent pneumonia" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000236423" "00198" "00311168" "00006" "Familial, autosomal dominant" "1y8m" "see paper; ..., length 77 cm (-2.4 SD), OFC 35 cm (-4.4 SD); no facial dysmorphism; significant developmental delay; seizures (controlled), hypotonia; mild scoliosis; no gastro-intestinal abnormalities" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000236424" "00198" "00311169" "00006" "Familial, autosomal dominant" "11y11m" "see paper; ..., birth weight 2500 g, OFC 28.5 cm; length 122 cm (-4 SD), OFC 40 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern, dysgenesis of the corpus callosum; seizures (controlled), severe axial hypotonia, spastic tetraparesis, no language or communication; cortical visual impairment; severe scoliosis; feeding difficulties, G-tube; recurrent pneumonia" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000236425" "00198" "00311170" "00006" "Familial, autosomal dominant" "10y6m" "see paper; ..., birth length 48 cm, weight 2700 g, OFC 27.5 cm; length 125.34 cm (-2.5 SD), OFC 39 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern; seizures (controlled), severe axial hypotonia, spastic tetraparesis, no language or communication; cortical visual impairment; severe scoliosis; feeding difficulties, G-tube; recurrent pneumonia" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000306189" "00198" "00414354" "00000" "Familial, autosomal dominant" "67y" "" "" "" "" "" "" "" "" "" "Adult-Onset Leukodystrophy" "" "" "0000345791" "05421" "00457321" "04772" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000229310" "00228220" "1" "00000" "00006" "2013-03-25 22:50:52" "" "" "PCR;SEQ" "DNA" "" "" "0000229311" "00228221" "1" "00000" "00006" "2013-03-25 22:50:52" "" "" "PCR;SEQ;Southern;PCRq" "DNA" "" "" "0000229312" "00228222" "1" "00000" "00006" "2013-03-25 22:50:52" "" "" "PCR;SEQ;Southern;PCRq" "DNA" "" "" "0000229313" "00228223" "1" "00000" "00006" "2013-03-25 22:50:52" "" "" "SEQ" "DNA" "" "" "0000229314" "00228224" "1" "03011" "03011" "2013-06-01 22:14:22" "00006" "2013-06-04 21:44:12" "arrayCGH" "DNA" "" "" "0000229315" "00228225" "1" "03011" "03011" "2013-06-01 22:20:56" "00006" "2013-06-04 21:51:50" "arrayCGH" "DNA" "" "" "0000294878" "00293710" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306133" "00305004" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312318" "00311164" "1" "00006" "00006" "2020-09-20 10:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312319" "00311165" "1" "00006" "00006" "2020-09-20 10:10:24" "00006" "2020-09-20 10:12:27" "arrayCGH" "DNA" "" "OGT Cytosure 180k, v3 array)" "0000312320" "00311166" "1" "00006" "00006" "2020-09-20 10:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312321" "00311167" "1" "00006" "00006" "2020-09-20 10:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312322" "00311168" "1" "00006" "00006" "2020-09-20 10:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312323" "00311169" "1" "00006" "00006" "2020-09-20 10:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312324" "00311170" "1" "00006" "00006" "2020-09-20 10:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415634" "00414354" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000458942" "00457321" "1" "04772" "04772" "2024-11-07 08:12:45" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000229310" "MARCH3" "0000229311" "MARCH3" "0000229312" "MARCH3" "0000229313" "MARCH3" "0000229314" "LMNB1" "0000229315" "LMNB1" "0000312318" "LMNB1" "0000312319" "LMNB1" "0000312320" "LMNB1" "0000312321" "LMNB1" "0000312322" "LMNB1" "0000312323" "LMNB1" "0000312324" "LMNB1" "0000415634" "LMNB1" "0000458942" "LMNB1" ## 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 = 78 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000279383" "0" "10" "5" "126171974" "126171974" "subst" "0.0638179" "02330" "LMNB1_000007" "g.126171974C>T" "" "" "" "LMNB1(NM_005573.4):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126836282C>T" "" "benign" "" "0000279384" "0" "10" "5" "126161690" "126161690" "subst" "0.0197259" "02330" "LMNB1_000006" "g.126161690C>T" "" "" "" "LMNB1(NM_001198557.1):c.872C>T (p.(Ala291Val)), LMNB1(NM_005573.4):c.1502C>T (p.A501V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126825998C>T" "" "benign" "" "0000279385" "0" "10" "5" "126140540" "126140540" "subst" "0.020433" "02330" "LMNB1_000002" "g.126140540G>A" "" "" "" "LMNB1(NM_001198557.1):c.-199G>A (p.(=)), LMNB1(NM_005573.4):c.432G>A (p.S144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126804848G>A" "" "benign" "" "0000283550" "0" "50" "5" "126154620" "126154620" "subst" "0" "02329" "LMNB1_000005" "g.126154620G>C" "" "" "" "LMNB1(NM_005573.4):c.946G>C (p.A316P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126818928G>C" "" "VUS" "" "0000330495" "0" "30" "5" "126140449" "126140449" "subst" "0.00960186" "01804" "LMNB1_000008" "g.126140449C>T" "" "" "" "LMNB1(NM_001198557.1):c.-271-19C>T (p.(=)), LMNB1(NM_005573.4):c.360-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126804757C>T" "" "likely benign" "" "0000330496" "0" "30" "5" "126140540" "126140540" "subst" "0.020433" "01804" "LMNB1_000002" "g.126140540G>A" "" "" "" "LMNB1(NM_001198557.1):c.-199G>A (p.(=)), LMNB1(NM_005573.4):c.432G>A (p.S144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126804848G>A" "" "likely benign" "" "0000330497" "0" "50" "5" "126145905" "126145905" "subst" "0.00024776" "01804" "LMNB1_000009" "g.126145905C>T" "" "" "" "LMNB1(NM_001198557.1):c.46C>T (p.(Arg16Cys)), LMNB1(NM_005573.3):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126810213C>T" "" "VUS" "" "0000330498" "0" "30" "5" "126147503" "126147503" "subst" "0.00396074" "01804" "LMNB1_000004" "g.126147503T>C" "" "" "" "LMNB1(NM_001198557.1):c.222T>C (p.(Ser74=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126811811T>C" "" "likely benign" "" "0000330499" "0" "30" "5" "126161690" "126161690" "subst" "0.0197259" "01804" "LMNB1_000006" "g.126161690C>T" "" "" "" "LMNB1(NM_001198557.1):c.872C>T (p.(Ala291Val)), LMNB1(NM_005573.4):c.1502C>T (p.A501V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.126825998C>T" "" "likely benign" "" "0000470494" "1" "95" "5" "126003285" "126344068" "dup" "0" "00000" "MARCH3_000002" "g.126003285_126344068dup" "" "{PMID:Padiath 2006:16951681}" "" "126031184_126371969dup" "340,785 bp duplication incl. AK093561\r\nand MARCH3 (ex2-5); not in ˜400 control chromosomes; increased expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000470495" "1" "95" "5" "126096878" "126266332" "dup" "0" "00000" "MARCH3_000001" "g.126096878_126266332dup" "" "{PMID:Padiath 2006:16951681}" "" "126124777_126294232dup" "linkage analysis; 169,455 bp duplication incl. AK093561; founder duplication: RNA brain expression level unchanged" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000470496" "1" "95" "5" "126096878" "126266332" "dup" "0" "00000" "MARCH3_000001" "g.126096878_126266332dup" "" "{PMID:Padiath 2006:16951681}" "" "126124777_126294232dup" "linkage analysis; 169,455 bp duplication incl. AK093561; founder duplication: RNA brain expression level unchanged" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000470498" "0" "95" "5" "126023423" "126301352" "dup" "0" "03011" "LMNB1_000001" "g.126023423_126301352dup" "" "{PMID:Giorgio 2013:23649844}" "" "g.126,023,423_126,301,352dup" "duplication is predicted to caused increase expression of LMNB1 gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000470499" "0" "95" "5" "126072067" "126275499" "dup" "0" "03011" "LMNB1_000001" "g.126072067_126275499dup" "" "{PMID:Giorgio 2013:23649844}" "" "g.126,072,067_126,275,499dup" "duplication is predicted to result in increased expression of LMNB1 RNA and protein" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000470500" "1" "95" "5" "126112315" "126172712" "dup" "0" "00000" "LMNB1_000003" "g.(?_126112315)_(126172712_?)dup" "" "{PMID:Padiath 2006:16951681}" "" "whole gene duplication" "150-250,000 bp duplication incl. AK093561 and MARCH3 (ex4-5); increased expression" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000523958" "0" "30" "5" "126113260" "126113260" "subst" "0.000836437" "01943" "LMNB1_000010" "g.126113260G>A" "" "" "" "LMNB1(NM_005573.3):c.60G>A (p.T20=), LMNB1(NM_005573.4):c.60G>A (p.(Thr20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126777568G>A" "" "likely benign" "" "0000523959" "0" "50" "5" "126113364" "126113364" "subst" "0" "01943" "LMNB1_000011" "g.126113364C>T" "" "" "" "LMNB1(NM_005573.3):c.164C>T (p.T55M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126777672C>T" "" "VUS" "" "0000523960" "0" "10" "5" "126113365" "126113365" "subst" "0.000659035" "01943" "LMNB1_000012" "g.126113365G>A" "" "" "" "LMNB1(NM_005573.3):c.165G>A (p.T55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126777673G>A" "" "benign" "" "0000523961" "0" "30" "5" "126113479" "126113479" "subst" "0.00132895" "01943" "LMNB1_000013" "g.126113479C>T" "" "" "" "LMNB1(NM_005573.3):c.279C>T (p.L93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126777787C>T" "" "likely benign" "" "0000523962" "0" "10" "5" "126140522" "126140522" "subst" "0.0608281" "02330" "LMNB1_000014" "g.126140522T>C" "" "" "" "LMNB1(NM_005573.4):c.414T>C (p.Y138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126804830T>C" "" "benign" "" "0000523963" "0" "50" "5" "126156631" "126156631" "subst" "4.06316E-5" "01804" "LMNB1_000015" "g.126156631G>A" "" "" "" "LMNB1(NM_001198557.1):c.560G>A (p.(Arg187His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126820939G>A" "" "VUS" "" "0000523964" "0" "30" "5" "126156764" "126156764" "subst" "0" "01943" "LMNB1_000016" "g.126156764T>C" "" "" "" "LMNB1(NM_005573.3):c.1323T>C (p.N441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126821072T>C" "" "likely benign" "" "0000523965" "0" "50" "5" "126158455" "126158455" "subst" "0.000478806" "01804" "LMNB1_000017" "g.126158455C>G" "" "" "" "LMNB1(NM_001198557.1):c.757-18C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126822763C>G" "" "VUS" "" "0000621456" "0" "30" "5" "126161691" "126161691" "subst" "4.06514E-6" "01943" "LMNB1_000018" "g.126161691A>G" "" "" "" "LMNB1(NM_005573.3):c.1503A>G (p.A501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126825999A>G" "" "likely benign" "" "0000651567" "1" "30" "5" "126161690" "126161690" "subst" "0.0197259" "03575" "LMNB1_000006" "g.126161690C>T" "169/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "169 heterozygous; {DB:CLININrs36105360}" "Germline" "" "rs36105360" "0" "" "" "g.126825998C>T" "" "likely benign" "" "0000655252" "0" "30" "5" "126113229" "126113229" "subst" "0.000222374" "01943" "LMNB1_000019" "g.126113229G>T" "" "" "" "LMNB1(NM_005573.3):c.29G>T (p.R10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126777537G>T" "" "likely benign" "" "0000655253" "0" "30" "5" "126141392" "126141395" "dup" "0" "01943" "LMNB1_000020" "g.126141392_126141395dup" "" "" "" "LMNB1(NM_005573.3):c.642+2_642+5dupTAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126805700_126805703dup" "" "likely benign" "" "0000655254" "0" "30" "5" "126156638" "126156638" "subst" "0.000259985" "01943" "LMNB1_000021" "g.126156638A>C" "" "" "" "LMNB1(NM_005573.3):c.1197A>C (p.T399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.126820946A>C" "" "likely benign" "" "0000669821" "3" "30" "5" "126161690" "126161690" "subst" "0.0197259" "03575" "LMNB1_000006" "g.126161690C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs36105360}" "Germline" "" "rs36105360" "0" "" "" "g.126825998C>T" "" "likely benign" "" "0000677364" "0" "50" "5" "126147547" "126147547" "subst" "8.12506E-6" "01943" "LMNB1_000022" "g.126147547G>T" "" "" "" "LMNB1(NM_005573.3):c.896G>T (p.R299I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693900" "0" "90" "5" "126140563" "126140563" "subst" "0" "00006" "LMNB1_000026" "g.126140563C>G" "" "{PMID:Cristofoli 2020:32910914}" "" "" "" "De novo" "" "" "0" "" "" "g.126804871C>G" "" "pathogenic (dominant)" "" "0000693901" "21" "90" "5" "126149952" "126159137" "del" "0" "00006" "LMNB1_000023" "g.(126147591_126149952)_(126159137_126161679)del" "" "{PMID:Cristofoli 2020:32910914}" "" "5q23.2(126,149,952-126,159,137)x1mat" "variant de novo in mother" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000693902" "0" "90" "5" "126113297" "126113297" "subst" "0" "00006" "LMNB1_000024" "g.126113297A>G" "" "{PMID:Cristofoli 2020:32910914}" "" "" "" "De novo" "" "" "0" "" "" "g.126777605A>G" "" "pathogenic (dominant)" "" "0000693903" "0" "90" "5" "126113324" "126113324" "subst" "0" "00006" "LMNB1_000025" "g.126113324C>T" "" "{PMID:Cristofoli 2020:32910914}" "" "" "" "De novo" "" "" "0" "" "" "g.126777632C>T" "" "pathogenic (dominant)" "" "0000693904" "11" "90" "5" "126147591" "126147591" "subst" "0" "00006" "LMNB1_000027" "g.126147591G>A" "" "{PMID:Cristofoli 2020:32910914}" "" "" "father 0.15 mosaic for variant" "Germline" "" "" "0" "" "" "g.126811899G>A" "" "pathogenic (dominant)" "" "0000693905" "11" "90" "5" "126147591" "126147591" "subst" "0" "00006" "LMNB1_000027" "g.126147591G>A" "" "{PMID:Cristofoli 2020:32910914}" "" "" "father 0.15 mosaic for variant" "Germline" "" "" "0" "" "" "g.126811899G>A" "" "pathogenic (dominant)" "" "0000693906" "11" "90" "5" "126147591" "126147591" "subst" "0" "00006" "LMNB1_000027" "g.126147591G>A" "" "{PMID:Cristofoli 2020:32910914}" "" "" "father 0.15 mosaic for variant" "Germline" "" "" "0" "" "" "g.126811899G>A" "" "pathogenic (dominant)" "" "0000720112" "0" "50" "5" "126145905" "126145905" "subst" "0.00024776" "01943" "LMNB1_000009" "g.126145905C>T" "" "" "" "LMNB1(NM_001198557.1):c.46C>T (p.(Arg16Cys)), LMNB1(NM_005573.3):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720113" "0" "30" "5" "126154705" "126154705" "subst" "0" "01943" "LMNB1_000028" "g.126154705G>A" "" "" "" "LMNB1(NM_005573.3):c.1031G>A (p.R344K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720114" "0" "50" "5" "126158548" "126158550" "del" "0" "01943" "LMNB1_000029" "g.126158548_126158550del" "" "" "" "LMNB1(NM_005573.3):c.1462_1464delTAT (p.Y488del), LMNB1(NM_005573.4):c.1462_1464delTAT (p.Y488del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720115" "0" "50" "5" "126168445" "126168447" "dup" "0" "01943" "LMNB1_000030" "g.126168445_126168447dup" "" "" "" "LMNB1(NM_001198557.1):c.1041_1043dup (p.(Glu349dup)), LMNB1(NM_005573.3):c.1671_1673dupGGA (p.E559dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801834" "0" "30" "5" "126156598" "126156598" "subst" "4.07657E-5" "01943" "LMNB1_000032" "g.126156598A>G" "" "" "" "LMNB1(NM_005573.3):c.1161-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801835" "0" "50" "5" "126158576" "126158576" "subst" "0" "01943" "LMNB1_000033" "g.126158576C>A" "" "" "" "LMNB1(NM_005573.3):c.1490C>A (p.T497K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859714" "0" "50" "5" "126145881" "126145881" "subst" "4.06213E-6" "01804" "LMNB1_000034" "g.126145881G>A" "" "" "" "LMNB1(NM_005573.3):c.652G>A (p.(Glu218Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859715" "0" "30" "5" "126146034" "126146034" "subst" "1.2201E-5" "01804" "LMNB1_000035" "g.126146034C>T" "" "" "" "LMNB1(NM_005573.3):c.805C>T (p.(His269Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859716" "0" "30" "5" "126161748" "126161748" "subst" "0.00884478" "01804" "LMNB1_000036" "g.126161748G>A" "" "" "" "LMNB1(NM_001198557.1):c.930G>A (p.(Ser310=)), LMNB1(NM_005573.4):c.1560G>A (p.S520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873468" "0" "70" "5" "126156806" "126156806" "subst" "8.15734E-6" "00000" "LMNB1_000037" "g.126156806C>T" "121" "{PMID:Sun 2018:30076350}" "" "LMNB1(NM_005573.3):c.1365C>T(p.R455R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.126821114C>T" "" "likely pathogenic" "" "0000886551" "0" "70" "5" "126113325" "126113325" "subst" "0" "02327" "LMNB1_000038" "g.126113325G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886552" "0" "70" "5" "126147591" "126147591" "subst" "0" "02327" "LMNB1_000039" "g.126147591G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886553" "0" "30" "5" "126156662" "126156662" "subst" "4.0621E-5" "01804" "LMNB1_000040" "g.126156662T>C" "" "" "" "LMNB1(NM_001198557.1):c.591T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912194" "0" "50" "5" "126161747" "126161747" "subst" "1.21901E-5" "01804" "LMNB1_000041" "g.126161747C>T" "" "" "" "LMNB1(NM_005573.3):c.1559C>T (p.(Ser520Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924213" "0" "10" "5" "126140522" "126140522" "subst" "0.0608281" "02329" "LMNB1_000014" "g.126140522T>C" "" "" "" "LMNB1(NM_005573.4):c.414T>C (p.Y138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928995" "0" "50" "5" "126154753" "126154753" "subst" "3.65711E-5" "02325" "LMNB1_000042" "g.126154753A>G" "" "" "" "LMNB1(NM_005573.4):c.1079A>G (p.Y360C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948438" "0" "50" "5" "126113354" "126113354" "subst" "0.000103821" "01804" "LMNB1_000043" "g.126113354A>G" "" "" "" "LMNB1(NM_005573.3):c.154A>G (p.(Ser52Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948439" "0" "10" "5" "126140449" "126140449" "subst" "0.00960186" "02329" "LMNB1_000008" "g.126140449C>T" "" "" "" "LMNB1(NM_001198557.1):c.-271-19C>T (p.(=)), LMNB1(NM_005573.4):c.360-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963389" "0" "10" "5" "126161748" "126161748" "subst" "0.00884478" "02329" "LMNB1_000036" "g.126161748G>A" "" "" "" "LMNB1(NM_001198557.1):c.930G>A (p.(Ser310=)), LMNB1(NM_005573.4):c.1560G>A (p.S520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976488" "0" "30" "5" "126121815" "126121816" "ins" "0" "01804" "LMNB1_000045" "g.126121815_126121816insGT" "" "" "" "LMNB1(NM_005573.4):c.359+8256_359+8257insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976489" "0" "30" "5" "126140460" "126140460" "subst" "1.63417E-5" "01804" "LMNB1_000046" "g.126140460T>C" "" "" "" "LMNB1(NM_005573.4):c.360-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976490" "0" "50" "5" "126140586" "126140586" "subst" "1.21878E-5" "01804" "LMNB1_000047" "g.126140586G>C" "" "" "" "LMNB1(NM_005573.4):c.478G>C (p.(Glu160Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976491" "0" "50" "5" "126141368" "126141368" "subst" "8.15089E-6" "01804" "LMNB1_000048" "g.126141368C>T" "" "" "" "LMNB1(NM_005573.4):c.622C>T (p.(Arg208Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976492" "0" "50" "5" "126158510" "126158510" "subst" "0" "01804" "LMNB1_000049" "g.126158510T>C" "" "" "" "LMNB1(NM_005573.4):c.1424T>C (p.(Ile475Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976493" "0" "50" "5" "126168445" "126168447" "dup" "0" "01804" "LMNB1_000030" "g.126168445_126168447dup" "" "" "" "LMNB1(NM_001198557.1):c.1041_1043dup (p.(Glu349dup)), LMNB1(NM_005573.3):c.1671_1673dupGGA (p.E559dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994585" "0" "90" "5" "126147591" "126147591" "subst" "0" "01804" "LMNB1_000027" "g.126147591G>A" "" "" "" "LMNB1(NM_005573.3):c.939+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994586" "0" "50" "5" "126161717" "126161717" "dup" "0" "01804" "LMNB1_000050" "g.126161717dup" "" "" "" "LMNB1(NM_005573.3):c.1529dupC (p.(Thr511fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014050" "0" "10" "5" "126140540" "126140540" "subst" "0.020433" "02329" "LMNB1_000002" "g.126140540G>A" "" "" "" "LMNB1(NM_001198557.1):c.-199G>A (p.(=)), LMNB1(NM_005573.4):c.432G>A (p.S144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014051" "0" "30" "5" "126156773" "126156773" "subst" "5.6942E-5" "02325" "LMNB1_000051" "g.126156773C>T" "" "" "" "LMNB1(NM_005573.4):c.1332C>T (p.I444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014052" "0" "50" "5" "126156820" "126156820" "subst" "2.0442E-5" "01804" "LMNB1_000052" "g.126156820C>T" "" "" "" "LMNB1(NM_001198557.1):c.749C>T (p.(Ser250Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016574" "0" "70" "5" "126113511" "126113519" "del" "0" "04772" "LMNB1_000053" "g.126113511_126113519del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.126777819_126777827del" "" "likely pathogenic" "" "0001025000" "0" "30" "5" "126113357" "126113357" "subst" "0" "01804" "LMNB1_000054" "g.126113357C>T" "" "" "" "LMNB1(NM_005573.3):c.157C>T (p.(Leu53=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025001" "0" "50" "5" "126158548" "126158550" "del" "0" "02325" "LMNB1_000029" "g.126158548_126158550del" "" "" "" "LMNB1(NM_005573.3):c.1462_1464delTAT (p.Y488del), LMNB1(NM_005573.4):c.1462_1464delTAT (p.Y488del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025002" "0" "10" "5" "126161690" "126161690" "subst" "0.0197259" "02329" "LMNB1_000006" "g.126161690C>T" "" "" "" "LMNB1(NM_001198557.1):c.872C>T (p.(Ala291Val)), LMNB1(NM_005573.4):c.1502C>T (p.A501V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025003" "0" "30" "5" "126161694" "126161694" "subst" "5.28515E-5" "02325" "LMNB1_000055" "g.126161694C>T" "" "" "" "LMNB1(NM_005573.4):c.1506C>T (p.N502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025004" "0" "50" "5" "126168445" "126168447" "del" "0" "02325" "LMNB1_000056" "g.126168445_126168447del" "" "" "" "LMNB1(NM_005573.4):c.1671_1673delGGA (p.E559del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034832" "0" "30" "5" "126113260" "126113260" "subst" "0.000836437" "01804" "LMNB1_000010" "g.126113260G>A" "" "" "" "LMNB1(NM_005573.3):c.60G>A (p.T20=), LMNB1(NM_005573.4):c.60G>A (p.(Thr20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034833" "0" "30" "5" "126140465" "126140465" "subst" "2.44756E-5" "01804" "LMNB1_000057" "g.126140465C>T" "" "" "" "LMNB1(NM_005573.4):c.360-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034834" "0" "50" "5" "126140565" "126140565" "subst" "8.12427E-6" "01804" "LMNB1_000058" "g.126140565C>G" "" "" "" "LMNB1(NM_005573.4):c.457C>G (p.(Leu153Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034835" "0" "50" "5" "126145963" "126145963" "subst" "0" "01804" "LMNB1_000059" "g.126145963C>T" "" "" "" "LMNB1(NM_005573.4):c.734C>T (p.(Ala245Val))" "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 LMNB1 ## Count = 78 "{{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}}" "0000079500" "00011446" "00" "-2284677" "0" "8388607" "0" "c.-2284677_*19545329dup" "" "" "" "0000279383" "00011446" "10" "1779" "0" "1779" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000279384" "00011446" "10" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ala501Val)" "" "0000279385" "00011446" "10" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ser144=)" "" "0000283550" "00011446" "50" "946" "0" "946" "0" "c.946G>C" "r.(?)" "p.(Ala316Pro)" "" "0000330495" "00011446" "30" "360" "-19" "360" "-19" "c.360-19C>T" "r.(=)" "p.(=)" "" "0000330496" "00011446" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ser144=)" "" "0000330497" "00011446" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "" "0000330498" "00011446" "30" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Ser284=)" "" "0000330499" "00011446" "30" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ala501Val)" "" "0000470494" "00011446" "00" "-109916" "0" "173873" "0" "c.-109916_*172112dup" "r.0?" "p.0?" "" "0000470495" "00011446" "00" "-16323" "0" "96137" "0" "c.-16323_*94376dup" "r.0?" "p.0?" "" "0000470496" "00011446" "00" "-16323" "0" "96137" "0" "c.-16323_*94376dup" "r.0?" "p.0?" "" "0000470498" "00011446" "95" "-886" "0" "2517" "0" "c.(?_-886)_(*756_?)dup" "r.?" "p.?" "1_11" "0000470499" "00011446" "95" "-886" "0" "2517" "0" "c.(?_-886)_(*756_?)dup" "r.?" "p.?" "1_11" "0000470500" "00011446" "95" "-886" "0" "2517" "0" "c.(?_-886)_(*756_?)dup" "r.=" "p.=" "1_11" "0000523958" "00011446" "30" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Thr20=)" "" "0000523959" "00011446" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Met)" "" "0000523960" "00011446" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Thr55=)" "" "0000523961" "00011446" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Leu93=)" "" "0000523962" "00011446" "10" "414" "0" "414" "0" "c.414T>C" "r.(?)" "p.(Tyr138=)" "" "0000523963" "00011446" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0000523964" "00011446" "30" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Asn441=)" "" "0000523965" "00011446" "50" "1387" "-18" "1387" "-18" "c.1387-18C>G" "r.(=)" "p.(=)" "" "0000621456" "00011446" "30" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Ala501=)" "" "0000651567" "00011446" "30" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ala501Val)" "" "0000655252" "00011446" "30" "29" "0" "29" "0" "c.29G>T" "r.(?)" "p.(Arg10Leu)" "" "0000655253" "00011446" "30" "642" "4" "642" "7" "c.642+4_642+7dup" "r.spl?" "p.?" "" "0000655254" "00011446" "30" "1197" "0" "1197" "0" "c.1197A>C" "r.(?)" "p.(Thr399=)" "" "0000669821" "00011446" "30" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ala501Val)" "" "0000677364" "00011446" "50" "896" "0" "896" "0" "c.896G>T" "r.(?)" "p.(Arg299Ile)" "" "0000693900" "00011446" "90" "455" "0" "455" "0" "c.455C>G" "r.(?)" "p.(Ala152Gly)" "2" "0000693901" "00011446" "90" "939" "2362" "1491" "560" "c.(939+1_939+2362)_(1491+560_1492-1)del" "r.(940_1491del)" "p.(Ser314_Thr497del)" "5i_8i" "0000693902" "00011446" "90" "97" "0" "97" "0" "c.97A>G" "r.(?)" "p.(Lys33Glu)" "1" "0000693903" "00011446" "90" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Trp)" "1" "0000693904" "00011446" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl" "p.?" "5i" "0000693905" "00011446" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl" "p.?" "5i" "0000693906" "00011446" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl" "p.?" "5i" "0000720112" "00011446" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "" "0000720113" "00011446" "30" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344Lys)" "" "0000720114" "00011446" "50" "1462" "0" "1464" "0" "c.1462_1464del" "r.(?)" "p.(Tyr488del)" "" "0000720115" "00011446" "50" "1671" "0" "1673" "0" "c.1671_1673dup" "r.(?)" "p.(Glu559dup)" "" "0000801834" "00011446" "30" "1161" "-4" "1161" "-4" "c.1161-4A>G" "r.spl?" "p.?" "" "0000801835" "00011446" "50" "1490" "0" "1490" "0" "c.1490C>A" "r.(?)" "p.(Thr497Lys)" "" "0000859714" "00011446" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Glu218Lys)" "" "0000859715" "00011446" "30" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(His269Tyr)" "" "0000859716" "00011446" "30" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Ser520=)" "" "0000873468" "00011446" "70" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Arg455=)" "" "0000886551" "00011446" "70" "125" "0" "125" "0" "c.125G>C" "r.(?)" "p.(Arg42Pro)" "" "0000886552" "00011446" "70" "939" "1" "939" "1" "c.939+1G>T" "r.spl?" "p.?" "" "0000886553" "00011446" "30" "1221" "0" "1221" "0" "c.1221T>C" "r.(?)" "p.(Arg407=)" "" "0000912194" "00011446" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Ser520Leu)" "" "0000924213" "00011446" "10" "414" "0" "414" "0" "c.414T>C" "r.(?)" "p.(Tyr138=)" "" "0000928995" "00011446" "50" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "" "0000948438" "00011446" "50" "154" "0" "154" "0" "c.154A>G" "r.(?)" "p.(Ser52Gly)" "" "0000948439" "00011446" "10" "360" "-19" "360" "-19" "c.360-19C>T" "r.(=)" "p.(=)" "" "0000963389" "00011446" "10" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(Ser520=)" "" "0000976488" "00011446" "30" "359" "8256" "359" "8257" "c.359+8256_359+8257insGT" "r.(=)" "p.(=)" "" "0000976489" "00011446" "30" "360" "-8" "360" "-8" "c.360-8T>C" "r.(=)" "p.(=)" "" "0000976490" "00011446" "50" "478" "0" "478" "0" "c.478G>C" "r.(?)" "p.(Glu160Gln)" "" "0000976491" "00011446" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Cys)" "" "0000976492" "00011446" "50" "1424" "0" "1424" "0" "c.1424T>C" "r.(?)" "p.(Ile475Thr)" "" "0000976493" "00011446" "50" "1671" "0" "1673" "0" "c.1671_1673dup" "r.(?)" "p.(Glu559dup)" "" "0000994585" "00011446" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl?" "p.?" "" "0000994586" "00011446" "50" "1529" "0" "1529" "0" "c.1529dup" "r.(?)" "p.(Thr511Asnfs*2)" "" "0001014050" "00011446" "10" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Ser144=)" "" "0001014051" "00011446" "30" "1332" "0" "1332" "0" "c.1332C>T" "r.(?)" "p.(=)" "" "0001014052" "00011446" "50" "1379" "0" "1379" "0" "c.1379C>T" "r.(?)" "p.(Ser460Phe)" "" "0001016574" "00011446" "70" "311" "0" "319" "0" "c.311_319del" "r.(311_319del)" "p.(Gln104_Glu106del)" "" "0001025000" "00011446" "30" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(=)" "" "0001025001" "00011446" "50" "1462" "0" "1464" "0" "c.1462_1464del" "r.(?)" "p.(Tyr488del)" "" "0001025002" "00011446" "10" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ala501Val)" "" "0001025003" "00011446" "30" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(=)" "" "0001025004" "00011446" "50" "1671" "0" "1673" "0" "c.1671_1673del" "r.(?)" "p.(Glu559del)" "" "0001034832" "00011446" "30" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Thr20=)" "" "0001034833" "00011446" "30" "360" "-3" "360" "-3" "c.360-3C>T" "r.spl?" "p.?" "" "0001034834" "00011446" "50" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Leu153Val)" "" "0001034835" "00011446" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Ala245Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000229310" "0000470494" "0000229311" "0000470495" "0000229312" "0000470496" "0000229313" "0000470500" "0000229314" "0000470498" "0000229315" "0000470499" "0000294878" "0000651567" "0000306133" "0000669821" "0000312318" "0000693900" "0000312319" "0000693901" "0000312320" "0000693902" "0000312321" "0000693903" "0000312322" "0000693904" "0000312323" "0000693905" "0000312324" "0000693906" "0000415634" "0000873468" "0000458942" "0001016574"