### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYSM1) # 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}}" "MYSM1" "Myb-like, SWIRM and MPN domains 1" "1" "p32.1" "unknown" "NC_000001.10" "UD_132319085966" "" "https://www.LOVD.nl/MYSM1" "" "1" "29401" "114803" "612176" "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" "2018-12-30 09:08:26" "00000" "2023-11-27 17:35:39" ## 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}}" "00014209" "MYSM1" "Myb-like, SWIRM and MPN domains 1" "001" "NM_001085487.2" "" "NP_001078956.1" "" "" "" "-23" "7745" "2487" "59165747" "59120411" "" "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}}" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06038" "BMFS4" "Bone marrow failure syndrome 4" "AR" "618116" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYSM1" "06038" ## 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}}" "00210880" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA154" "00334352" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334362" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334363" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334901" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335017" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335021" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00210880" "05484" "00334352" "05793" "00334362" "05793" "00334363" "05793" "00334901" "05793" "00335017" "05793" "00335021" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05484, 05793, 06038 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000159442" "05484" "00210880" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000253147" "05793" "00334352" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253157" "05793" "00334362" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253158" "05793" "00334363" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253271" "05793" "00334901" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253299" "05793" "00335017" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000253303" "05793" "00335021" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" ## 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}}" "0000211958" "00210880" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000335580" "00334352" "1" "04011" "04011" "2021-02-28 03:57:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335590" "00334362" "1" "04011" "04011" "2021-02-28 05:26:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335591" "00334363" "1" "04011" "04011" "2021-02-28 05:29:57" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336130" "00334901" "1" "04011" "04011" "2021-03-02 12:22:31" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336246" "00335017" "1" "04011" "04011" "2021-03-03 02:58:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336250" "00335021" "1" "04011" "04011" "2021-03-03 03:27:15" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000211958" "MYSM1" ## 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 = 23 "{{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}}" "0000320841" "0" "30" "1" "59132702" "59132702" "subst" "0.00844658" "01804" "MYSM1_000001" "g.59132702T>C" "" "" "" "MYSM1(NM_001085487.2):c.2031+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58667030T>C" "" "likely benign" "" "0000443593" "3" "90" "1" "59141211" "59141211" "subst" "0" "00006" "MYSM1_000002" "g.59141211G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.58675539G>A" "" "pathogenic (recessive)" "" "0000508014" "0" "50" "1" "59125783" "59125783" "subst" "0" "01943" "MYSM1_000003" "g.59125783G>C" "" "" "" "MYSM1(NM_001085487.3):c.2373C>G (p.C791W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58660111G>C" "" "VUS" "" "0000508015" "0" "30" "1" "59139251" "59139251" "subst" "0.00563792" "01943" "MYSM1_000004" "g.59139251C>T" "" "" "" "MYSM1(NM_001085487.3):c.1566G>A (p.T522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58673579C>T" "" "likely benign" "" "0000508016" "0" "50" "1" "59148058" "59148058" "subst" "0" "01943" "MYSM1_000005" "g.59148058C>A" "" "" "" "MYSM1(NM_001085487.3):c.658G>T (p.D220Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58682386C>A" "" "VUS" "" "0000508017" "0" "30" "1" "59155891" "59155891" "subst" "0" "01943" "MYSM1_000006" "g.59155891T>C" "" "" "" "MYSM1(NM_001085487.3):c.320+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58690219T>C" "" "likely benign" "" "0000675896" "0" "30" "1" "59165668" "59165668" "subst" "0" "02326" "MYSM1_000007" "g.59165668C>A" "" "" "" "MYSM1(NM_001085487.3):c.57G>T (p.G19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688213" "0" "30" "1" "59148136" "59148136" "subst" "0.0139871" "01804" "MYSM1_000008" "g.59148136T>C" "" "" "" "MYSM1(NM_001085487.2):c.580A>G (p.(Lys194Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717565" "0" "50" "1" "59147625" "59147625" "subst" "4.87662E-5" "01943" "MYSM1_000009" "g.59147625T>C" "" "" "" "MYSM1(NM_001085487.3):c.1091A>G (p.E364G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734155" "0" "70" "1" "59141163" "59141163" "subst" "8.27465E-6" "04011" "MYSM1_000011" "g.59141163G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734183" "0" "70" "1" "59126891" "59126891" "subst" "0.000538095" "04011" "MYSM1_000010" "g.59126891G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734184" "0" "70" "1" "59165712" "59165712" "subst" "2.03698E-5" "04011" "MYSM1_000012" "g.59165712C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735197" "0" "70" "1" "59126891" "59126891" "subst" "0.000538095" "04011" "MYSM1_000010" "g.59126891G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735439" "0" "70" "1" "59126891" "59126891" "subst" "0.000538095" "04011" "MYSM1_000010" "g.59126891G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735455" "0" "70" "1" "59126891" "59126891" "subst" "0.000538095" "04011" "MYSM1_000010" "g.59126891G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000799447" "0" "50" "1" "59156090" "59156090" "subst" "0.000150176" "01943" "MYSM1_000013" "g.59156090C>T" "" "" "" "MYSM1(NM_001085487.3):c.219-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857557" "0" "30" "1" "59139254" "59139254" "subst" "0.00018684" "02326" "MYSM1_000014" "g.59139254T>C" "" "" "" "MYSM1(NM_001085487.3):c.1563A>G (p.Q521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857558" "0" "30" "1" "59148208" "59148208" "subst" "0.000381459" "02326" "MYSM1_000015" "g.59148208C>T" "" "" "" "MYSM1(NM_001085487.3):c.508G>A (p.G170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883524" "0" "30" "1" "59155883" "59155889" "del" "0" "02326" "MYSM1_000016" "g.59155883_59155889del" "" "" "" "MYSM1(NM_001085487.3):c.320+17_320+23delTATATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928193" "0" "50" "1" "59131171" "59131171" "subst" "0.000141354" "02329" "MYSM1_000017" "g.59131171G>T" "" "" "" "MYSM1(NM_001085487.3):c.2164C>A (p.R722S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928194" "0" "30" "1" "59134727" "59134727" "del" "0" "02326" "MYSM1_000018" "g.59134727del" "" "" "" "MYSM1(NM_001085487.3):c.1662-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947277" "0" "30" "1" "59142629" "59142629" "subst" "0.00364856" "02326" "MYSM1_000019" "g.59142629G>A" "" "" "" "MYSM1(NM_001085487.3):c.1359C>T (p.L453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974038" "0" "70" "1" "59156090" "59156090" "subst" "0.000150176" "01804" "MYSM1_000013" "g.59156090C>T" "" "" "" "MYSM1(NM_001085487.3):c.219-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 MYSM1 ## Count = 23 "{{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}}" "0000320841" "00014209" "30" "2031" "8" "2031" "8" "c.2031+8A>G" "r.(=)" "p.(=)" "" "0000443593" "00014209" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478*)" "" "0000508014" "00014209" "50" "2373" "0" "2373" "0" "c.2373C>G" "r.(?)" "p.(Cys791Trp)" "" "0000508015" "00014209" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Thr522=)" "" "0000508016" "00014209" "50" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Asp220Tyr)" "" "0000508017" "00014209" "30" "320" "7" "320" "7" "c.320+7A>G" "r.(=)" "p.(=)" "" "0000675896" "00014209" "30" "57" "0" "57" "0" "c.57G>T" "r.(?)" "p.(Gly19=)" "" "0000688213" "00014209" "30" "580" "0" "580" "0" "c.580A>G" "r.(?)" "p.(Lys194Glu)" "" "0000717565" "00014209" "50" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Glu364Gly)" "" "0000734155" "00014209" "50" "1480" "0" "1480" "0" "c.1480C>A" "r.(?)" "p.(Arg494Ser)" "" "0000734183" "00014209" "50" "2279" "0" "2279" "0" "c.2279C>T" "r.(?)" "p.(Pro760Leu)" "" "0000734184" "00014209" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Glu5Lys)" "" "0000735197" "00014209" "50" "2279" "0" "2279" "0" "c.2279C>T" "r.(?)" "p.(Pro760Leu)" "" "0000735439" "00014209" "50" "2279" "0" "2279" "0" "c.2279C>T" "r.(?)" "p.(Pro760Leu)" "" "0000735455" "00014209" "50" "2279" "0" "2279" "0" "c.2279C>T" "r.(?)" "p.(Pro760Leu)" "" "0000799447" "00014209" "50" "219" "-1" "219" "-1" "c.219-1G>A" "r.spl?" "p.?" "" "0000857557" "00014209" "30" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Gln521=)" "" "0000857558" "00014209" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Ser)" "" "0000883524" "00014209" "30" "320" "17" "320" "23" "c.320+17_320+23del" "r.(=)" "p.(=)" "" "0000928193" "00014209" "50" "2164" "0" "2164" "0" "c.2164C>A" "r.(?)" "p.(Arg722Ser)" "" "0000928194" "00014209" "30" "1662" "-10" "1662" "-10" "c.1662-10del" "r.(=)" "p.(=)" "" "0000947277" "00014209" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(=)" "" "0000974038" "00014209" "70" "219" "-1" "219" "-1" "c.219-1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000211958" "0000443593" "0000335580" "0000734155" "0000335590" "0000734183" "0000335591" "0000734184" "0000336130" "0000735197" "0000336246" "0000735439" "0000336250" "0000735455"