### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOTCH2NL) # 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}}" "NOTCH2NL" "notch 2 N-terminal like" "1" "q21.2" "unknown" "NC_000001.10" "UD_132319154617" "" "https://www.LOVD.nl/NOTCH2NL" "" "1" "31862" "388677" "0" "1" "1" "1" "1" "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" "2019-07-05 12:37:17" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014700" "NOTCH2NL" "notch 2 N-terminal like" "001" "NM_203458.3" "" "NP_982283.2" "" "" "" "-370" "4592" "711" "145209111" "145285912" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NOTCH2NL" "05613" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05613 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{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}}" "0000502962" "0" "30" "1" "145281384" "145281384" "subst" "8.16613E-5" "01804" "NOTCH2NL_000001" "g.145281384G>A" "" "" "" "NOTCH2NL(NM_203458.3):c.314G>A (p.(Trp105Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146156798C>T" "" "likely benign" "" "0000502963" "0" "30" "1" "145281952" "145281952" "subst" "0.000527564" "01804" "NOTCH2NL_000002" "g.145281952T>C" "" "" "" "NOTCH2NLA(NM_203458.5):c.635-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146156230A>G" "" "likely benign" "" "0000882747" "0" "50" "1" "145281617" "145281617" "subst" "2.4504E-5" "02325" "NOTCH2NL_000003" "g.145281617T>C" "" "" "" "NOTCH2NLC(NM_001364013.2):c.710T>C (p.V237A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031201" "0" "30" "1" "145281408" "145281408" "subst" "0" "01804" "NOTCH2NL_000004" "g.145281408C>T" "" "" "" "NOTCH2NLA(NM_203458.5):c.338C>T (p.(Pro113Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031202" "0" "30" "1" "145281613" "145281613" "subst" "0" "01804" "NOTCH2NL_000005" "g.145281613C>A" "" "" "" "NOTCH2NLA(NM_203458.5):c.543C>A (p.(Ser181Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031203" "0" "30" "1" "145281633" "145281633" "subst" "0" "01804" "NOTCH2NL_000006" "g.145281633C>A" "" "" "" "NOTCH2NLA(NM_203458.5):c.563C>A (p.(Pro188His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031204" "0" "50" "1" "145281993" "145281993" "subst" "5.28799E-5" "01804" "NOTCH2NL_000007" "g.145281993A>G" "" "" "" "NOTCH2NLA(NM_203458.5):c.673A>G (p.(Arg225Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050230" "0" "50" "1" "145281545" "145281545" "subst" "0" "01804" "NOTCH2NL_000008" "g.145281545T>C" "" "" "" "NOTCH2NLA(NM_203458.5):c.475T>C (p.(Cys159Arg))" "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 NOTCH2NL ## Count = 8 "{{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}}" "0000502962" "00014700" "30" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Trp105Ter)" "" "0000502963" "00014700" "30" "635" "-3" "635" "-3" "c.635-3T>C" "r.spl?" "p.?" "" "0000882747" "00014700" "50" "547" "0" "547" "0" "c.547T>C" "r.(?)" "p.(Tyr183His)" "" "0001031201" "00014700" "30" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0001031202" "00014700" "30" "543" "0" "543" "0" "c.543C>A" "r.(?)" "p.(Ser181Arg)" "" "0001031203" "00014700" "30" "563" "0" "563" "0" "c.563C>A" "r.(?)" "p.(Pro188His)" "" "0001031204" "00014700" "50" "673" "0" "673" "0" "c.673A>G" "r.(?)" "p.(Arg225Gly)" "" "0001050230" "00014700" "50" "475" "0" "475" "0" "c.475T>C" "r.(?)" "p.(Cys159Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0