### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYOF) # 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}}" "MYOF" "myoferlin" "10" "q24" "unknown" "NC_000010.10" "UD_132319357060" "" "https://www.LOVD.nl/MYOF" "" "1" "3656" "26509" "604603" "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/MYOF_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2025-03-13 09:29:01" "00006" "2025-11-19 14:00:20" ## 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}}" "00001537" "MYOF" "transcript variant 1" "002" "NM_013451.3" "" "NP_038479.1" "" "" "" "-123" "6720" "6186" "95066186" "95242074" "00000" "2012-09-13 13:38:52" "" "" ## 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}}" "01029" "KTCN" "keratoconus (KTCN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 12:41:56" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "06944" "HAE" "angioedema, hereditary" "" "" "" "" "" "00006" "2022-07-07 09:18:20" "" "" "07157" "HAE7" "angioedema, hereditary, type 7" "AD" "619366" "" "" "" "00006" "2025-03-13 09:28:38" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MYOF" "06944" "MYOF" "07157" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00265203" "" "" "" "1" "" "00006" "{PMID:Kiselev 2019:31297131}" "" "F" "" "Sweden" "" "0" "" "" "" "Pat" "00307910" "" "" "" "1" "" "03594" "" "" "" "" "" "" "" "" "" "" "KC003_1" "00454900" "" "" "" "3" "" "03256" "{PMID:Ariano 2020:32542751}, {DOI:Ariano 2020:10.1111/all.14454}" "2-generation family in which a mother and her 2 daughters had HAE with normal C1INH" "F" "no" "Italy" "" "0" "" "" "" "family" "00469537" "" "" "" "1" "" "03256" "{PMID:Fomina 2025:40797221}, {DOI:Fomina 2025:10.1186/s13023-025-03932-9}" "2-generation Russian family with a male proband" "M" "no" "Russia" "" "0" "" "" "" "" "00469538" "" "" "" "1" "" "03256" "{PMID:Fomina 2025:40797221}, {DOI:Fomina 2025:10.1186/s13023-025-03932-9}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Russia" "" "0" "" "" "" "" "00469715" "" "" "" "1" "" "03256" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "A single Chinese family (Huashan Hospital)" "F" "no" "China" "" "0" "" "" "" "Pat1" "00469716" "" "" "" "1" "" "03256" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "A single Chinese family (Huashan Hospital)" "F" "no" "China" "" "0" "" "" "" "Pat2" "00469718" "" "" "" "1" "" "03256" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "A single individual in a Chinese family without family history of HAE-nC1INH" "F" "" "China" "" "0" "" "" "" "Pat3" "00469719" "" "" "" "1" "" "03256" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "A single Chinese family" "M" "no" "China" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00265203" "05121" "00307910" "01029" "00454900" "07157" "00469537" "07157" "00469538" "07157" "00469715" "07157" "00469716" "07157" "00469718" "07157" "00469719" "07157" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01029, 01157, 05121, 06944, 07157 ## Count = 10 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000203031" "05121" "00265203" "00006" "Unknown" "53y" "see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy" "44y" "" "" "" "" "" "" "" "muscular dystrophy" "0000233337" "01029" "00307910" "03594" "Familial, autosomal dominant" "" "Keratoconus" "" "" "" "" "" "" "" "" "" "0000343507" "06944" "00454900" "03256" "Familial" "" "History of recurrent angioedema without urticaria and not responding to antihistamines and steroids for acute attacks or prophylaxis" "" "" "" "" "" "" "" "" "" "0000354690" "07157" "00469537" "03256" "Familial" "" "Swellings of genital area, tongue, lips, and upper extremities; attacks preceded by a series of prodroms, including hyperesthesia, tingling, marginal erythema. \r\nIn the absence of therapeutic intervention, the AE stayed for a period of up to 72 hours. \r\nThe average frequency of AE prior to the initiation of therapy was once every 2 months." "22y" "36y" "" "" "" "" "" "" "angioedema" "0000354691" "07157" "00469538" "03256" "Familial" "" "Angioedema appearance in the coccyx area during surgery for a coccygeal cyst. Subsequently, the AE attacks occurred involving eyelids, lips, larynx, pharynx, hands, and feet, but no preceding symptoms were observed. In the absence of therapeutic intervention, the angioedema typically resolved within a period of 72h with the frequency \r\non average 2–4 times per month." "14y" "25y" "" "" "" "" "" "" "" "0000354867" "07157" "00469715" "03256" "Unknown" "" "HAE-nC1INH with unilateral lower extremity swelling triggered after a dog bite and vaccination. The swelling remained incompletely solved but demonstrated intermittent exacerbations, particularly under stress. The patient also reported two episodes of severe abdominal pain and transient voice changes.\r\nTreatment with antihistamines, corticosteroids, herbal medicines, and omalizumab yielded no improvement." "" "43y" "" "" "" "" "" "" "" "0000354868" "07157" "00469716" "03256" "Familial" "" "HAE-nC1INH with recurrent severe abdominal pain, vomiting, diarrhea, and episodic swelling affecting the wrists and bilateral lower extremities; symptoms persisting for 2–7 days per episode.\r\nNo improvement with glucocorticoid, but shortened\r\nepisode duration with icatibant and effective symptom control with lanadelumab." "" "49y" "" "" "" "" "" "" "" "0000354870" "07157" "00469718" "03256" "Familial" "" "HAE-nC1INH with recurrent swelling of the hands and eyelids along with severe abdominal pain, exacerbated by stress, emotional factors, and pollen exposure but resistant to oral antihistamines." "30y" "" "" "" "" "" "" "" "" "0000354871" "07157" "00469719" "03256" "Unknown" "" "HAE-nC1INH with recurrent skin swelling primarily\r\ninvolving the extremities and tongue, more frequent following emotional stress and poor sleep." "29y" "59y" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000266323" "00265203" "1" "00006" "00006" "2019-09-14 13:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309054" "00307910" "1" "03594" "03594" "2020-08-22 15:30:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000456509" "00454900" "1" "03256" "03256" "2024-09-30 11:08:45" "03256" "2025-11-16 18:47:05" "SEQ-NG" "DNA" "" "" "0000471205" "00469537" "1" "03256" "03256" "2025-11-16 18:53:06" "" "" "SEQ-NG" "DNA" "" "" "0000471206" "00469538" "1" "03256" "03256" "2025-11-16 19:01:35" "" "" "SEQ-NG" "DNA" "" "" "0000471383" "00469715" "1" "03256" "03256" "2025-11-19 08:43:22" "" "" "SEQ-NG" "DNA" "" "" "0000471384" "00469716" "1" "03256" "03256" "2025-11-19 09:02:57" "" "" "SEQ-NG" "DNA" "" "" "0000471386" "00469718" "1" "03256" "03256" "2025-11-19 09:17:59" "" "" "SEQ-NG" "DNA" "" "" "0000471387" "00469719" "1" "03256" "03256" "2025-11-19 09:30:58" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000266323" "MYOF" "0000456509" "MYOF" "0000471205" "MYOF" "0000471206" "MYOF" "0000471383" "MYOF" "0000471384" "MYOF" "0000471386" "MYOF" "0000471387" "MYOF" ## 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 = 50 "{{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}}" "0000012868" "0" "50" "10" "95207977" "95207977" "subst" "0" "00037" "MYOF_000001" "g.95207977A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.93448220A>G" "" "VUS" "" "0000302779" "0" "50" "10" "95137159" "95137159" "subst" "0" "01943" "MYOF_000005" "g.95137159C>T" "" "" "" "MYOF(NM_013451.4):c.2029G>A (p.G677R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93377402C>T" "" "VUS" "" "0000302780" "0" "50" "10" "95111024" "95111024" "subst" "6.52731E-5" "01943" "MYOF_000004" "g.95111024G>T" "" "" "" "MYOF(NM_013451.4):c.3851C>A (p.P1284H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93351267G>T" "" "VUS" "" "0000302781" "0" "10" "10" "95093631" "95093631" "subst" "0.00237645" "01943" "MYOF_000003" "g.95093631C>T" "" "" "" "MYOF(NM_013451.4):c.4603G>A (p.V1535M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93333874C>T" "" "benign" "" "0000541652" "0" "30" "10" "95139654" "95139654" "subst" "1.6252E-5" "01804" "MYOF_000007" "g.95139654G>A" "" "" "" "MYOF(NM_013451.3):c.1967C>T (p.(Ala656Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93379897G>A" "" "likely benign" "" "0000541653" "0" "30" "10" "95155896" "95155896" "subst" "4.92413E-5" "01804" "MYOF_000008" "g.95155896T>G" "" "" "" "MYOF(NM_013451.3):c.1417+3A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93396139T>G" "" "likely benign" "" "0000596941" "0" "90" "10" "95126287" "95126288" "delins" "0" "00006" "MYOF_000009" "g.95126287_95126288delinsG" "" "{PMID:Kiselev 2019:31297131}" "" "NM_133337.2:[2576delG; 2575G>C] (G859QfsTer8)" "ACMG PS3, PM2, PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.93366530_93366531delinsG" "" "pathogenic (dominant)" "ACMG" "0000596964" "0" "50" "10" "95126288" "95126288" "del" "0" "00006" "MYOF_000010" "g.95126288del" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "" "0" "" "" "g.93366531del" "" "VUS" "" "0000596965" "0" "50" "10" "95126288" "95126288" "subst" "0" "00006" "MYOF_000011" "g.95126288C>G" "" "{PMID:Kiselev 2019:31297131}" "" "" "" "Germline" "" "" "0" "" "" "g.93366531C>G" "" "VUS" "" "0000683510" "0" "70" "10" "95121277" "95121277" "subst" "0" "03594" "MYOF_000013" "g.95121277C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000690844" "0" "50" "10" "95079645" "95079646" "dup" "0" "01943" "MYOF_000014" "g.95079645_95079646dup" "" "" "" "MYOF(NM_013451.4):c.5582_5583dupGT (p.I1862Vfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723027" "0" "50" "10" "95079687" "95079687" "subst" "1.21866E-5" "02327" "MYOF_000015" "g.95079687C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852638" "0" "50" "10" "95132767" "95132767" "subst" "8.93684E-5" "02325" "MYOF_000017" "g.95132767C>T" "" "" "" "MYOF(NM_013451.4):c.2377G>A (p.A793T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862086" "0" "30" "10" "95111590" "95111590" "subst" "9.17229E-6" "01943" "MYOF_000016" "g.95111590A>G" "" "" "" "MYOF(NM_013451.4):c.3495T>C (p.H1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913375" "0" "10" "10" "95111163" "95111163" "subst" "0.00282794" "02326" "MYOF_000018" "g.95111163A>G" "" "" "" "MYOF(NM_013451.4):c.3822+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913376" "0" "30" "10" "95123718" "95123718" "subst" "0.000330119" "02326" "MYOF_000019" "g.95123718C>T" "" "" "" "MYOF(NM_013451.4):c.2868G>A (p.A956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925226" "0" "30" "10" "95079636" "95079636" "subst" "0.00245843" "02325" "MYOF_000020" "g.95079636G>A" "" "" "" "MYOF(NM_013451.4):c.5591C>T (p.A1864V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925227" "0" "30" "10" "95079636" "95079636" "subst" "0.00245843" "02326" "MYOF_000020" "g.95079636G>A" "" "" "" "MYOF(NM_013451.4):c.5591C>T (p.A1864V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925228" "0" "30" "10" "95088611" "95088611" "subst" "7.7163E-5" "02326" "MYOF_000021" "g.95088611G>A" "" "" "" "MYOF(NM_013451.4):c.5040C>T (p.V1680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925229" "0" "30" "10" "95095818" "95095818" "subst" "0.00165738" "02326" "MYOF_000022" "g.95095818C>T" "" "" "" "MYOF(NM_013451.4):c.4438-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925230" "0" "30" "10" "95123803" "95123803" "subst" "0.00141821" "02326" "MYOF_000023" "g.95123803G>A" "" "" "" "MYOF(NM_013451.4):c.2783C>T (p.T928M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925231" "0" "30" "10" "95156001" "95156001" "subst" "0" "02326" "MYOF_000024" "g.95156001A>G" "" "" "" "MYOF(NM_013451.4):c.1335-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929729" "0" "30" "10" "95109736" "95109736" "subst" "1.63742E-5" "02326" "MYOF_000025" "g.95109736C>T" "" "" "" "MYOF(NM_013451.4):c.3922-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929730" "0" "30" "10" "95111541" "95111541" "subst" "0.000445082" "02326" "MYOF_000026" "g.95111541G>A" "" "" "" "MYOF(NM_013451.4):c.3544C>T (p.L1182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929731" "0" "30" "10" "95134644" "95134644" "subst" "9.34792E-5" "02325" "MYOF_000027" "g.95134644C>T" "" "" "" "MYOF(NM_013451.4):c.2177G>A (p.R726Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929732" "0" "30" "10" "95155977" "95155977" "subst" "3.84846E-5" "02326" "MYOF_000028" "g.95155977G>A" "" "" "" "MYOF(NM_013451.4):c.1339C>T (p.R447C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949476" "0" "30" "10" "95134589" "95134589" "subst" "0.00270257" "02326" "MYOF_000029" "g.95134589G>A" "" "" "" "MYOF(NM_013451.4):c.2232C>T (p.A744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949477" "0" "30" "10" "95185817" "95185817" "subst" "0" "02326" "MYOF_000030" "g.95185817G>A" "" "" "" "MYOF(NM_013451.4):c.433+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949478" "0" "30" "10" "95185933" "95185933" "subst" "0.00167529" "02326" "MYOF_000031" "g.95185933G>A" "" "" "" "MYOF(NM_013451.4):c.346-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965943" "0" "10" "10" "95093631" "95093631" "subst" "0.00237645" "02326" "MYOF_000003" "g.95093631C>T" "" "" "" "MYOF(NM_013451.4):c.4603G>A (p.V1535M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965944" "0" "30" "10" "95109633" "95109633" "subst" "0.00112085" "02325" "MYOF_000032" "g.95109633C>T" "" "" "" "MYOF(NM_013451.4):c.4015G>A (p.E1339K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965945" "0" "50" "10" "95111507" "95111507" "subst" "0" "02325" "MYOF_000033" "g.95111507T>C" "" "" "" "MYOF(NM_013451.4):c.3578A>G (p.D1193G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965947" "0" "50" "10" "95168648" "95168648" "subst" "4.469E-5" "02325" "MYOF_000034" "g.95168648G>A" "" "" "" "MYOF(NM_013451.4):c.625C>T (p.R209*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965948" "0" "50" "10" "95168666" "95168666" "subst" "0.000170658" "02325" "MYOF_000035" "g.95168666C>T" "" "" "" "MYOF(NM_013451.4):c.607G>A (p.V203I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998614" "0" "50" "10" "95072842" "95072842" "subst" "0" "02325" "MYOF_000036" "g.95072842C>T" "" "" "" "MYOF(NM_013451.4):c.5824G>A (p.E1942K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998615" "0" "50" "10" "95113586" "95113586" "subst" "2.86044E-5" "01804" "MYOF_000037" "g.95113586C>T" "" "" "" "MYOF(NM_013451.3):c.3463G>A (p.(Asp1155Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001010194" "21" "90" "10" "95168622" "95168622" "subst" "0" "03256" "MYOF_000038" "g.95168622C>A" "0.000007" "{PMID:Ariano 2020:32542751}, {DOI:Ariano 2020:10.1111/all.14454}" "" "" "Distribution of variant within family member suggests an autosomal dominant mechanism with incomplete penetrance.\r\nMYOF participates in signaling and prevents ubiquitination and degradation of VEGFR-2. Increased expression of VEGFR2 at the endothelial cell membrane could cause increased VEGF-mediated intracellular signaling that may lead to vascular leakage. In addition, MYOF loss has been shown to affect the VEGFR-2 release in response to VEGF and, in MYOF-deficient mice, VEGFR-2 levels and VEGF-induced permeability were impaired.\r\nAffected carriers displayed higher plasma ANGPT1 levels.\r\nAscribed by ClinVar and OMIM to angioedema, hereditary 7, HAE7." "Germline" "yes" "rs1256778304" "0" "" "" "g.93408865C>A" "{CV-SCV:001712267}" "pathogenic" "" "0001014695" "0" "30" "10" "95072787" "95072787" "subst" "9.91842E-5" "02325" "MYOF_000039" "g.95072787C>T" "" "" "" "MYOF(NM_013451.4):c.5879G>A (p.R1960H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014696" "0" "30" "10" "95072818" "95072818" "subst" "2.03272E-5" "02325" "MYOF_000040" "g.95072818A>T" "" "" "" "MYOF(NM_013451.4):c.5848T>A (p.W1950R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014697" "0" "30" "10" "95076472" "95076472" "subst" "0.000158466" "02325" "MYOF_000041" "g.95076472C>G" "" "" "" "MYOF(NM_013451.4):c.5697G>C (p.L1899F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014698" "0" "30" "10" "95116512" "95116512" "subst" "0.000272148" "02325" "MYOF_000042" "g.95116512G>A" "" "" "" "MYOF(NM_013451.4):c.3214C>T (p.(Arg1072Cys), p.R1072C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025801" "0" "50" "10" "95163785" "95163785" "subst" "0" "02325" "MYOF_000043" "g.95163785A>G" "" "" "" "MYOF(NM_013451.4):c.838T>C (p.F280L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038103" "0" "50" "10" "95116512" "95116512" "subst" "0.000272148" "01804" "MYOF_000042" "g.95116512G>A" "" "" "" "MYOF(NM_013451.4):c.3214C>T (p.(Arg1072Cys), p.R1072C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038104" "0" "30" "10" "95123718" "95123718" "subst" "0.000330119" "02325" "MYOF_000019" "g.95123718C>T" "" "" "" "MYOF(NM_013451.4):c.2868G>A (p.A956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059336" "21" "70" "10" "95134596" "95134596" "subst" "4.06567E-6" "03256" "MYOF_000045" "g.95134596G>A" "" "{PMID:Fomina 2025:40797221}, {DOI:Fomina 2025:10.1186/s13023-025-03932-9}" "" "" "asymptomatic mother also carries c.3508C>T variant" "Germline" "" "" "0" "" "" "g.93374839G>A" "" "VUS" "" "0001059337" "0" "70" "10" "95111577" "95111577" "subst" "0" "03256" "MYOF_000044" "g.95111577G>A" "" "{PMID:Fomina 2025:40797221}, {DOI:Fomina 2025:10.1186/s13023-025-03932-9]}" "" "" "brother\'s patient carries c.3508C>T without any clinical manifestation" "De novo" "" "" "0" "" "" "g.93351820G>A" "" "VUS" "" "0001059525" "0" "50" "10" "95070367" "95070367" "subst" "1.62459E-5" "03256" "MYOF_000046" "g.95070367C>T" "" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "" "" "Sporadic case" "Germline/De novo (untested)" "" "" "0" "" "" "g.93310610C>T" "{CV-SCV:006036323.1}" "VUS" "" "0001059526" "1" "50" "10" "95069923" "95069923" "subst" "4.06428E-6" "03256" "MYOF_000047" "g.95069923G>C" "" "{PMID:Gao 2025:40848077}, {DOI:Gao:10.1007/s10875-025-01912-z}" "" "" "Family history of HAE-nC1INH" "Germline" "" "" "0" "" "" "g.93310198G>C" "" "VUS" "" "0001059528" "21" "50" "10" "95109683" "95109683" "subst" "4.06174E-6" "03256" "MYOF_000048" "g.95109683G>C" "" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "" "" "Patient\'s mother harbored the same variant but was asymptomatic, suggesting incomplete penetrance." "Germline" "no" "" "0" "" "" "g.93349926G>C" "" "VUS" "" "0001059529" "0" "50" "10" "95161195" "95161195" "subst" "0" "03256" "MYOF_000049" "g.95161195C>A" "" "{PMID:Gao 2025:40848077}, {DOI:Gao 2025:10.1007/s10875-025-01912-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93401438C>A" "" "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 MYOF ## Count = 50 "{{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}}" "0000012868" "00001537" "50" "236" "3830" "236" "3830" "c.236+3830T>C" "r.(=)" "p.(=)" "" "0000302779" "00001537" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Gly677Arg)" "" "0000302780" "00001537" "50" "3851" "0" "3851" "0" "c.3851C>A" "r.(?)" "p.(Pro1284His)" "" "0000302781" "00001537" "10" "4603" "0" "4603" "0" "c.4603G>A" "r.(?)" "p.(Val1535Met)" "" "0000541652" "00001537" "30" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Ala656Val)" "" "0000541653" "00001537" "30" "1417" "3" "1417" "3" "c.1417+3A>C" "r.spl?" "p.?" "" "0000596941" "00001537" "90" "2614" "0" "2615" "0" "c.2614_2615delinsC" "r.(?)" "p.(Gly872Glnfs*8)" "" "0000596964" "00001537" "50" "2615" "0" "2615" "0" "c.2615del" "r.(?)" "p.(Gly872Glufs*8)" "" "0000596965" "00001537" "50" "2614" "0" "2614" "0" "c.2614G>C" "r.(?)" "p.(Gly872Arg)" "" "0000683510" "00001537" "70" "2906" "0" "2906" "0" "c.2906G>C" "r.(?)" "p.(Cys969Ser)" "" "0000690844" "00001537" "50" "5582" "0" "5583" "0" "c.5582_5583dup" "r.(?)" "p.(Ile1862ValfsTer23)" "" "0000723027" "00001537" "50" "5540" "0" "5540" "0" "c.5540G>T" "r.(?)" "p.(Arg1847Leu)" "" "0000852638" "00001537" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Ala793Thr)" "" "0000862086" "00001537" "30" "3495" "0" "3495" "0" "c.3495T>C" "r.(?)" "p.(His1165=)" "" "0000913375" "00001537" "10" "3822" "7" "3822" "7" "c.3822+7T>C" "r.(=)" "p.(=)" "" "0000913376" "00001537" "30" "2868" "0" "2868" "0" "c.2868G>A" "r.(?)" "p.(Ala956=)" "" "0000925226" "00001537" "30" "5591" "0" "5591" "0" "c.5591C>T" "r.(?)" "p.(Ala1864Val)" "" "0000925227" "00001537" "30" "5591" "0" "5591" "0" "c.5591C>T" "r.(?)" "p.(Ala1864Val)" "" "0000925228" "00001537" "30" "5040" "0" "5040" "0" "c.5040C>T" "r.(?)" "p.(Val1680=)" "" "0000925229" "00001537" "30" "4438" "-15" "4438" "-15" "c.4438-15G>A" "r.(=)" "p.(=)" "" "0000925230" "00001537" "30" "2783" "0" "2783" "0" "c.2783C>T" "r.(?)" "p.(Thr928Met)" "" "0000925231" "00001537" "30" "1335" "-20" "1335" "-20" "c.1335-20T>C" "r.(=)" "p.(=)" "" "0000929729" "00001537" "30" "3922" "-10" "3922" "-10" "c.3922-10G>A" "r.(=)" "p.(=)" "" "0000929730" "00001537" "30" "3544" "0" "3544" "0" "c.3544C>T" "r.(?)" "p.(=)" "" "0000929731" "00001537" "30" "2177" "0" "2177" "0" "c.2177G>A" "r.(?)" "p.(Arg726Gln)" "" "0000929732" "00001537" "30" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Cys)" "" "0000949476" "00001537" "30" "2232" "0" "2232" "0" "c.2232C>T" "r.(?)" "p.(=)" "" "0000949477" "00001537" "30" "433" "11" "433" "11" "c.433+11C>T" "r.(=)" "p.(=)" "" "0000949478" "00001537" "30" "346" "-18" "346" "-18" "c.346-18C>T" "r.(=)" "p.(=)" "" "0000965943" "00001537" "10" "4603" "0" "4603" "0" "c.4603G>A" "r.(?)" "p.(Val1535Met)" "" "0000965944" "00001537" "30" "4015" "0" "4015" "0" "c.4015G>A" "r.(?)" "p.(Glu1339Lys)" "" "0000965945" "00001537" "50" "3578" "0" "3578" "0" "c.3578A>G" "r.(?)" "p.(Asp1193Gly)" "" "0000965947" "00001537" "50" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209*)" "" "0000965948" "00001537" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Ile)" "" "0000998614" "00001537" "50" "5824" "0" "5824" "0" "c.5824G>A" "r.(?)" "p.(Glu1942Lys)" "" "0000998615" "00001537" "50" "3463" "0" "3463" "0" "c.3463G>A" "r.(?)" "p.(Asp1155Asn)" "" "0001010194" "00001537" "90" "651" "0" "651" "0" "c.651G>T" "r.(?)" "p.(Arg217Ser)" "7" "0001014695" "00001537" "30" "5879" "0" "5879" "0" "c.5879G>A" "r.(?)" "p.(Arg1960His)" "" "0001014696" "00001537" "30" "5848" "0" "5848" "0" "c.5848T>A" "r.(?)" "p.(Trp1950Arg)" "" "0001014697" "00001537" "30" "5697" "0" "5697" "0" "c.5697G>C" "r.(?)" "p.(Leu1899Phe)" "" "0001014698" "00001537" "30" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Cys)" "" "0001025801" "00001537" "50" "838" "0" "838" "0" "c.838T>C" "r.(?)" "p.(Phe280Leu)" "" "0001038103" "00001537" "50" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Cys)" "" "0001038104" "00001537" "30" "2868" "0" "2868" "0" "c.2868G>A" "r.(?)" "p.(Ala956=)" "" "0001059336" "00001537" "70" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Ser742Leu)" "23" "0001059337" "00001537" "70" "3508" "0" "3508" "0" "c.3508C>T" "r.(?)" "p.(His1170Tyr)" "33" "0001059525" "00001537" "50" "5923" "0" "5923" "0" "c.5923G>A" "r.(?)" "p.(Glu1975Lys)" "52" "0001059526" "00001537" "50" "6001" "0" "6001" "0" "c.6001C>G" "r.(?)" "p.(Arg2001Gly)" "53" "0001059528" "00001537" "50" "3965" "0" "3965" "0" "c.3965C>G" "r.(?)" "p.(Ala1322Gly)" "36" "0001059529" "00001537" "50" "1097" "0" "1097" "0" "c.1097G>T" "r.(?)" "p.(Arg366Leu)" "12" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012868" "0000266323" "0000596941" "0000266323" "0000596964" "0000266323" "0000596965" "0000309054" "0000683510" "0000456509" "0001010194" "0000471205" "0001059336" "0000471206" "0001059337" "0000471383" "0001059525" "0000471384" "0001059526" "0000471386" "0001059528" "0000471387" "0001059529"