### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CALR) # 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}}" "CALR" "calreticulin" "19" "p13.3-p13.2" "unknown" "NG_029662.1" "UD_132085271145" "" "https://www.LOVD.nl/CALR" "" "1" "1455" "811" "109091" "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/CALR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-04-04 09:06:50" "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}}" "00004298" "CALR" "calreticulin" "001" "NM_004343.3" "" "NP_004334.1" "" "" "" "-80" "1831" "1254" "13049414" "13055304" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01578" "THCYT1" "thrombocythemia, type 1" "" "187950" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:05:31" "01949" "MMM" "myelofibrosis, with myeloid metaplasia, somatic" "" "254450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:13:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CALR" "01578" "CALR" "01949" ## 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 01578, 01949 ## 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 = 4 "{{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}}" "0000617361" "0" "30" "19" "13051246" "13051246" "subst" "0.00119804" "01804" "CALR_000001" "g.13051246C>T" "" "" "" "CALR(NM_004343.3):c.682C>T (p.(Pro228Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12940432C>T" "" "likely benign" "" "0001042633" "0" "30" "19" "13051348" "13051348" "subst" "0" "01804" "CALR_000002" "g.13051348C>T" "" "" "" "CALR(NM_004343.4):c.703-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042634" "0" "90" "19" "13054627" "13054628" "ins" "3.63723E-5" "01804" "CALR_000003" "g.13054627_13054628insTTGTC" "" "" "" "CALR(NM_004343.3):c.1154_1155insTTGTC (p.(Lys385AsnfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046716" "0" "90" "19" "13054576" "13054609" "del" "0" "01804" "CALR_000004" "g.13054576_13054609del" "" "" "" "CALR(NM_004343.3):c.1103_1136del (p.(Lys368ArgfsTer51))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 CALR ## Count = 4 "{{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}}" "0000617361" "00004298" "30" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Pro228Ser)" "" "0001042633" "00004298" "30" "703" "-7" "703" "-7" "c.703-7C>T" "r.(=)" "p.(=)" "" "0001042634" "00004298" "90" "1154" "0" "1155" "0" "c.1154_1155insTTGTC" "r.(?)" "p.(Lys385Asnfs*47)" "" "0001046716" "00004298" "90" "1103" "0" "1136" "0" "c.1103_1136del" "r.(?)" "p.(Lys368Argfs*51)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0