### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NODAL)
# 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}}"
"NODAL" "nodal growth differentiation factor" "10" "q22.1" "unknown" "NG_012448.2" "UD_132118469455" "" "https://www.LOVD.nl/NODAL" "" "1" "7865" "4838" "601265" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-21 12:33:37" "00000" "2026-01-20 18:57:21"
## 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}}"
"00014668" "NODAL" "nodal homolog (mouse)" "001" "NM_018055.4" "" "NP_060525.3" "" "" "" "-42" "2044" "1044" "72201465" "72191692" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19"
"02072" "HTX5" "heterotaxy, visceral, autosomal, type 5 (HTX-5, situs inversus/situs ambiguus)" "AD" "270100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"NODAL" "02072"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00290093" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308733" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
"00406738" "" "" "" "2" "" "00006" "{PMID:Drissi 2022:33820834}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat1"
"00406740" "" "" "00406738" "1" "" "00006" "{PMID:Drissi 2022:33820834}" "sister" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat2"
"00462457" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "Guatemala" "Fam9PatII1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00290093" "00198"
"00308733" "00000"
"00406738" "00438"
"00406740" "00438"
"00462457" "05128"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00438, 02072, 05128
## 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}}"
"0000299188" "00438" "00406738" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "" "holoprosencephaly" ""
"0000299190" "00438" "00406740" "00006" "Familial, autosomal recessive" "" "see paper; ..., hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "" "holoprosencephaly" ""
"0000349956" "05128" "00462457" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs inversus; right-sided stomach, midline liver, spleen not definitely visualized, mild right renal central pelvocaliectasis; double outlet right ventricle, complete atrioventricular canal, D malposed great vessels, moderate reverse oriented patent ductus arteriosus, interrupted inferior vena cava with azygous continuation to R superior vena cava, hepatic veins drain to left sided atrium" "" "" "" "" "" "" "" "" "HTX14" "heterotaxy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000291261" "00290093" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309878" "00308733" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
"0000407985" "00406738" "1" "00006" "00006" "2022-04-04 17:47:44" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000407987" "00406740" "1" "00006" "00006" "2022-04-04 17:50:12" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000464089" "00462457" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000309878" "NODAL"
## 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 = 47
"{{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}}"
"0000300288" "0" "50" "10" "72192832" "72192832" "subst" "0.000528005" "02326" "NODAL_000001" "g.72192832G>A" "" "" "" "NODAL(NM_018055.5):c.904C>T (p.R302C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70433076G>A" "" "VUS" ""
"0000304243" "0" "10" "10" "72201219" "72201219" "subst" "0.398023" "01943" "NODAL_000004" "g.72201219G>A" "" "" "" "NODAL(NM_018055.4):c.193+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70441463G>A" "" "benign" ""
"0000304244" "0" "10" "10" "72195439" "72195439" "subst" "0.61694" "01943" "NODAL_000003" "g.72195439T>C" "" "" "" "NODAL(NM_018055.4):c.494A>G (p.H165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70435683T>C" "" "benign" ""
"0000304245" "0" "30" "10" "72195345" "72195345" "subst" "0.00196442" "01943" "NODAL_000002" "g.72195345G>C" "" "" "" "NODAL(NM_018055.4):c.588C>G (p.L196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70435589G>C" "" "likely benign" ""
"0000540567" "0" "10" "10" "72191952" "72191952" "subst" "0" "02327" "EIF4EBP2_000001" "g.72191952A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70432196A>G" "" "benign" ""
"0000540568" "0" "10" "10" "72191970" "72191970" "subst" "0" "02327" "EIF4EBP2_000002" "g.72191970C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70432214C>G" "" "benign" ""
"0000540569" "0" "50" "10" "72192715" "72192715" "subst" "4.06075E-6" "02327" "EIF4EBP2_000003" "g.72192715C>T" "" "" "" "NODAL(NM_018055.5):c.1021G>A (p.(Val341Met), p.V341M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70432959C>T" "" "VUS" ""
"0000540570" "0" "50" "10" "72192715" "72192715" "subst" "4.06075E-6" "02326" "EIF4EBP2_000003" "g.72192715C>T" "" "" "" "NODAL(NM_018055.5):c.1021G>A (p.(Val341Met), p.V341M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70432959C>T" "" "VUS" ""
"0000540571" "0" "50" "10" "72195226" "72195226" "subst" "4.06108E-6" "01943" "NODAL_000005" "g.72195226C>T" "" "" "" "NODAL(NM_018055.4):c.707G>A (p.R236H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70435470C>T" "" "VUS" ""
"0000540572" "0" "30" "10" "72195347" "72195347" "subst" "0.000142345" "02327" "NODAL_000006" "g.72195347G>A" "" "" "" "NODAL(NM_018055.5):c.586C>T (p.(Leu196Phe), p.L196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70435591G>A" "" "likely benign" ""
"0000540573" "0" "30" "10" "72195439" "72195439" "subst" "0.61694" "02327" "NODAL_000003" "g.72195439T>C" "" "" "" "NODAL(NM_018055.4):c.494A>G (p.H165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70435683T>C" "" "likely benign" ""
"0000540574" "0" "30" "10" "72195529" "72195529" "subst" "8.12645E-6" "01943" "NODAL_000007" "g.72195529T>C" "" "" "" "NODAL(NM_018055.4):c.404A>G (p.D135G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70435773T>C" "" "likely benign" ""
"0000540575" "0" "10" "10" "72195844" "72195844" "subst" "0" "02327" "NODAL_000008" "g.72195844T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70436088T>G" "" "benign" ""
"0000540576" "0" "10" "10" "72201219" "72201219" "subst" "0.398023" "02327" "NODAL_000004" "g.72201219G>A" "" "" "" "NODAL(NM_018055.4):c.193+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70441463G>A" "" "benign" ""
"0000540577" "0" "30" "10" "72201389" "72201389" "subst" "0" "01943" "NODAL_000009" "g.72201389G>C" "" "" "" "NODAL(NM_018055.4):c.35C>G (p.A12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70441633G>C" "" "likely benign" ""
"0000540578" "0" "10" "10" "72201532" "72201532" "subst" "0" "02327" "NODAL_000010" "g.72201532A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70441776A>G" "" "benign" ""
"0000612597" "0" "50" "10" "72192750" "72192750" "subst" "8.12156E-6" "02327" "EIF4EBP2_000004" "g.72192750C>T" "" "" "" "NODAL(NM_018055.4):c.986G>A (p.G329D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70432994C>T" "" "VUS" ""
"0000612599" "0" "30" "10" "72201413" "72201413" "subst" "0" "02327" "NODAL_000012" "g.72201413T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70441657T>C" "" "likely benign" ""
"0000647950" "1" "50" "10" "72195385" "72195385" "subst" "8.95146E-5" "03575" "NODAL_000013" "g.72195385C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894169}" "Germline" "" "rs104894169" "0" "" "" "g.70435629C>T" "" "VUS" ""
"0000656533" "0" "50" "10" "72195122" "72195122" "subst" "0" "01804" "NODAL_000014" "g.72195122A>G" "" "" "" "NODAL(NM_018055.4):c.811T>C (p.(Tyr271His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70435366A>G" "" "VUS" ""
"0000656534" "0" "30" "10" "72195575" "72195575" "subst" "8.14359E-6" "02326" "NODAL_000015" "g.72195575C>T" "" "" "" "NODAL(NM_018055.5):c.358G>A (p.D120N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70435819C>T" "" "likely benign" ""
"0000678886" "0" "30" "10" "72195347" "72195347" "subst" "0.000142345" "02326" "NODAL_000006" "g.72195347G>A" "" "" "" "NODAL(NM_018055.5):c.586C>T (p.(Leu196Phe), p.L196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000684780" "0" "30" "10" "72195326" "72195326" "subst" "0.000382157" "00004" "NODAL_000016" "g.72195326C>T" "frequency 0.026" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.70435570C>T" "" "likely benign" ""
"0000722898" "0" "30" "10" "72192812" "72192812" "subst" "0.00010558" "01943" "EIF4EBP2_000005" "g.72192812G>A" "" "" "" "NODAL(NM_018055.4):c.924C>T (p.V308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804501" "0" "50" "10" "72192750" "72192750" "subst" "8.12156E-6" "01943" "EIF4EBP2_000004" "g.72192750C>T" "" "" "" "NODAL(NM_018055.4):c.986G>A (p.G329D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000844850" "3" "30" "10" "72195439" "72195439" "subst" "0.61694" "00006" "NODAL_000003" "g.72195439T>C" "" "" "" "His165Arg" "" "Germline" "" "rs1904589" "0" "" "" "g.70435683T>C" "" "likely benign" ""
"0000844857" "3" "30" "10" "72195439" "72195439" "subst" "0.61694" "00006" "NODAL_000003" "g.72195439T>C" "" "" "" "His165Arg" "" "Germline" "" "rs1904589" "0" "" "" "g.70435683T>C" "" "likely benign" ""
"0000852535" "0" "50" "10" "72192847" "72192847" "subst" "0" "01943" "EIF4EBP2_000006" "g.72192847G>C" "" "" "" "NODAL(NM_018055.4):c.892-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861955" "0" "50" "10" "72195386" "72195386" "subst" "3.66214E-5" "01943" "NODAL_000017" "g.72195386G>A" "" "" "" "NODAL(NM_018055.4):c.547C>T (p.R183W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861956" "0" "30" "10" "72195394" "72195394" "subst" "8.13121E-6" "01943" "NODAL_000018" "g.72195394C>G" "" "" "" "NODAL(NM_018055.4):c.539G>C (p.C180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889205" "0" "50" "10" "72192733" "72192733" "subst" "0" "02327" "EIF4EBP2_000007" "g.72192733G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889206" "0" "10" "10" "72195717" "72195717" "subst" "0.00230898" "02326" "NODAL_000019" "g.72195717G>A" "" "" "" "NODAL(NM_018055.5):c.216C>T (p.N72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000889207" "0" "30" "10" "72201259" "72201259" "subst" "0" "01943" "NODAL_000020" "g.72201259T>C" "" "" "" "NODAL(NM_018055.4):c.165A>G (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925180" "0" "50" "10" "72195152" "72195152" "subst" "0" "02325" "NODAL_000021" "g.72195152A>G" "" "" "" "NODAL(NM_018055.5):c.781T>C (p.W261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000998477" "0" "30" "10" "72195326" "72195326" "subst" "0.000382157" "01804" "NODAL_000016" "g.72195326C>T" "" "" "" "NODAL(NM_018055.4):c.607G>A (p.(Glu203Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000998478" "0" "30" "10" "72195433" "72195433" "subst" "4.06362E-5" "01804" "NODAL_000022" "g.72195433C>T" "" "" "" "NODAL(NM_018055.4):c.500G>A (p.(Gly167Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000998479" "0" "30" "10" "72195652" "72195652" "subst" "0.000187057" "01804" "NODAL_000023" "g.72195652C>T" "" "" "" "NODAL(NM_018055.4):c.281G>A (p.(Arg94Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001016523" "0" "70" "10" "72201296" "72201297" "dup" "0" "03779" "NODAL_000024" "g.72201296_72201297dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0001027747" "21" "70" "10" "72195116" "72195116" "subst" "8.12427E-6" "00006" "NODAL_000025" "g.72195116C>T" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "" "Germline" "" "" "0" "" "" "g.70435360C>T" "" "VUS" ""
"0001037967" "0" "50" "10" "72192715" "72192715" "subst" "4.06075E-6" "01804" "EIF4EBP2_000003" "g.72192715C>T" "" "" "" "NODAL(NM_018055.5):c.1021G>A (p.(Val341Met), p.V341M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001037968" "0" "30" "10" "72207672" "72207672" "subst" "0" "01804" "NODAL_000026" "g.72207672G>A" "" "" "" "NODAL(NM_001329906.2):c.-207+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001046245" "0" "30" "10" "72192776" "72192776" "subst" "4.06078E-6" "02325" "EIF4EBP2_000008" "g.72192776C>T" "" "" "" "NODAL(NM_018055.5):c.960G>A (p.P320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001053570" "0" "30" "10" "72195347" "72195347" "subst" "0.000142345" "01804" "NODAL_000006" "g.72195347G>A" "" "" "" "NODAL(NM_018055.5):c.586C>T (p.(Leu196Phe), p.L196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001053571" "0" "50" "10" "72195662" "72195662" "subst" "0" "01804" "NODAL_000027" "g.72195662C>T" "" "" "" "NODAL(NM_018055.5):c.271G>A (p.(Ala91Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001065244" "0" "50" "10" "72195156" "72195156" "subst" "0" "02325" "NODAL_000028" "g.72195156G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001065245" "0" "50" "10" "72195191" "72195191" "subst" "0" "02325" "NODAL_000029" "g.72195191G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001065246" "0" "50" "10" "72201282" "72201282" "subst" "0" "02325" "NODAL_000030" "g.72201282A>G" "" "" "" "" "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 NODAL
## Count = 47
"{{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}}" "{{VariantOnTranscript/Variant/Type}}"
"0000300288" "00014668" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" ""
"0000304243" "00014668" "10" "193" "12" "193" "12" "c.193+12C>T" "r.(=)" "p.(=)" "" ""
"0000304244" "00014668" "10" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(His165Arg)" "" ""
"0000304245" "00014668" "30" "588" "0" "588" "0" "c.588C>G" "r.(?)" "p.(Leu196=)" "" ""
"0000540567" "00014668" "10" "1784" "0" "1784" "0" "c.*740T>C" "r.(=)" "p.(=)" "" ""
"0000540568" "00014668" "10" "1766" "0" "1766" "0" "c.*722G>C" "r.(=)" "p.(=)" "" ""
"0000540569" "00014668" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Met)" "" ""
"0000540570" "00014668" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Met)" "" ""
"0000540571" "00014668" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236His)" "" ""
"0000540572" "00014668" "30" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Leu196Phe)" "" ""
"0000540573" "00014668" "30" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(His165Arg)" "" ""
"0000540574" "00014668" "30" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Asp135Gly)" "" ""
"0000540575" "00014668" "10" "194" "-105" "194" "-105" "c.194-105A>C" "r.(=)" "p.(=)" "" ""
"0000540576" "00014668" "10" "193" "12" "193" "12" "c.193+12C>T" "r.(=)" "p.(=)" "" ""
"0000540577" "00014668" "30" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ala12Gly)" "" ""
"0000540578" "00014668" "10" "-109" "0" "-109" "0" "c.-109T>C" "r.(?)" "p.(=)" "" ""
"0000612597" "00014668" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Gly329Asp)" "" ""
"0000612599" "00014668" "30" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(His4Arg)" "" ""
"0000647950" "00014668" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" "" ""
"0000656533" "00014668" "50" "811" "0" "811" "0" "c.811T>C" "r.(?)" "p.(Tyr271His)" "" ""
"0000656534" "00014668" "30" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Asp120Asn)" "" ""
"0000678886" "00014668" "30" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Leu196Phe)" "" ""
"0000684780" "00014668" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Glu203Lys)" "" ""
"0000722898" "00014668" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(Val308=)" "" ""
"0000804501" "00014668" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Gly329Asp)" "" ""
"0000844850" "00014668" "30" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(His165Arg)" "" ""
"0000844857" "00014668" "30" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(His165Arg)" "" ""
"0000852535" "00014668" "50" "892" "-3" "892" "-3" "c.892-3C>G" "r.spl?" "p.?" "" ""
"0000861955" "00014668" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Trp)" "" ""
"0000861956" "00014668" "30" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Cys180Ser)" "" ""
"0000889205" "00014668" "50" "1003" "0" "1003" "0" "c.1003C>A" "r.(?)" "p.(His335Asn)" "" ""
"0000889206" "00014668" "10" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(Asn72=)" "" ""
"0000889207" "00014668" "30" "165" "0" "165" "0" "c.165A>G" "r.(?)" "p.(Ala55=)" "" ""
"0000925180" "00014668" "50" "781" "0" "781" "0" "c.781T>C" "r.(?)" "p.(Trp261Arg)" "" ""
"0000998477" "00014668" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Glu203Lys)" "" ""
"0000998478" "00014668" "30" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Glu)" "" ""
"0000998479" "00014668" "30" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "" ""
"0001016523" "00014668" "70" "127" "0" "128" "0" "c.127_128dup" "r.(?)" "p.(Met44ThrfsTer3)" "" ""
"0001027747" "00014668" "70" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Ala273Thr)" "" ""
"0001037967" "00014668" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Met)" "" ""
"0001037968" "00014668" "30" "-6249" "0" "-6249" "0" "c.-6249C>T" "r.(?)" "p.(=)" "" ""
"0001046245" "00014668" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(=)" "" ""
"0001053570" "00014668" "30" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Leu196Phe)" "" ""
"0001053571" "00014668" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Ala91Thr)" "" ""
"0001065244" "00014668" "50" "777" "0" "777" "0" "c.777C>G" "r.(?)" "p.(Ile259Met)" "" ""
"0001065245" "00014668" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Trp)" "" ""
"0001065246" "00014668" "50" "142" "0" "142" "0" "c.142T>C" "r.(?)" "p.(Tyr48His)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{variantid}}"
"0000291261" "0000647950"
"0000309878" "0000684780"
"0000407985" "0000844850"
"0000407987" "0000844857"
"0000464089" "0001027747"