### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO1A) # 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}}" "MYO1A" "myosin IA" "12" "q13-q15" "unknown" "NG_012104.2" "UD_134408596269" "" "https://www.LOVD.nl/MYO1A" "" "1" "7595" "4640" "601478" "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/MYO1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-06 13:27:49" "00006" "2025-11-13 13:04:16" ## 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}}" "00014168" "MYO1A" "transcript variant 2" "002" "NM_005379.3" "" "NP_005370.1" "" "" "" "-251" "3370" "3132" "57443901" "57422301" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02713" "DFNA48" "deafness, autosomal dominant, type 48 (DFNA-48)" "" "607841" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYO1A" "02713" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00059136" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059161" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00104026" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-725A" "00231413" "" "" "" "3" "" "03278" "{PMID:Cox 2019:31215115}" "3-generation family, 3 affected (2F, M)" "F;M" "" "Colombia" "" "0" "" "" "" "Fam22" "00290767" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290768" "" "" "" "83" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374710" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1593" "00441114" "" "" "" "1" "" "00006" "{PMID:Talebi 2018:29308629}" "2-generation family, 1 affected, unaffected heterozygous parents (first cousin)/relatives" "M" "yes" "Iran" "" "0" "" "" "" "patient" "00469128" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00059136" "00531" "00059161" "00531" "00104026" "03381" "00231413" "04254" "00290767" "00198" "00290768" "00198" "00374710" "00198" "00441114" "05086" "00469128" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00531, 02713, 03381, 04254, 05086 ## Count = 5 "{{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}}" "0000081960" "03381" "00104026" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000173805" "04254" "00231413" "03278" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269920" "00198" "00374710" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000330553" "05086" "00441114" "00006" "Unknown" "23y" "see paper; ..., 21m-poor response to sound" "" "" "" "" "" "" "" "" "" "hearing impairment" "" "0000354281" "00198" "00469128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059107" "00059136" "1" "01551" "01551" "2016-02-29 09:22:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000059137" "00059161" "1" "01551" "01551" "2016-02-29 11:51:26" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104497" "00104026" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000232512" "00231413" "1" "03278" "03278" "2019-05-02 18:06:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000291935" "00290767" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291936" "00290768" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375904" "00374710" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000442599" "00441114" "1" "00006" "00006" "2023-11-06 13:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470796" "00469128" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000059107" "MYO1A" "0000059137" "MYO1A" "0000232512" "FST" "0000375904" "DEAF1" ## 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 = 51 "{{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}}" "0000089904" "0" "50" "12" "57423001" "57423001" "subst" "0.000817678" "01551" "MYO1A_000001" "g.57423001C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.57029217C>T" "" "VUS" "" "0000089944" "0" "50" "12" "57437025" "57437025" "subst" "4.06174E-6" "01551" "MYO1A_000002" "g.57437025T>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.57043241T>C" "" "VUS" "" "0000169384" "0" "70" "12" "57436875" "57436875" "subst" "4.47082E-5" "00587" "MYO1A_000003" "g.57436875C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001256041.1(MYO1A):c.1079G>A p.(Arg360Gln)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.57043091C>T" "" "likely pathogenic" "" "0000255632" "0" "90" "12" "57431332" "57431332" "subst" "0.000508597" "01943" "MYO1A_000007" "g.57431332A>G" "" "" "" "MYO1A(NM_001256041.1):c.2055T>C (p.T685=, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57037548A>G" "" "pathogenic" "" "0000296225" "0" "30" "12" "57441459" "57441459" "subst" "0.00291861" "02325" "MYO1A_000010" "g.57441459G>A" "" "" "" "MYO1A(NM_001256041.1):c.277C>T (p.R93*), MYO1A(NM_001256041.2):c.277C>T (p.R93*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57047675G>A" "" "likely benign" "" "0000302681" "0" "30" "12" "57442130" "57442130" "subst" "0.000116225" "01943" "MYO1A_000012" "g.57442130G>A" "" "" "" "MYO1A(NM_001256041.1):c.-20-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57048346G>A" "" "likely benign" "" "0000302682" "0" "30" "12" "57435234" "57435234" "subst" "0.000178705" "01943" "MYO1A_000008" "g.57435234G>A" "" "" "" "MYO1A(NM_001256041.1):c.1146C>T (p.Y382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57041450G>A" "" "likely benign" "" "0000302684" "0" "90" "12" "57431331" "57431331" "subst" "0.000508614" "01943" "MYO1A_000005" "g.57431331C>A" "" "" "" "MYO1A(NM_001256041.1):c.2055+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57037547C>A" "" "pathogenic" "" "0000302685" "0" "30" "12" "57430138" "57430138" "subst" "0.000849884" "01943" "MYO1A_000004" "g.57430138G>A" "" "" "" "MYO1A(NM_001256041.1):c.2302C>T (p.R768W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57036354G>A" "" "likely benign" "" "0000322938" "0" "50" "12" "57431331" "57431331" "subst" "0.000508614" "01804" "MYO1A_000005" "g.57431331C>A" "" "" "" "MYO1A(NM_001256041.1):c.2055+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57037547C>A" "" "VUS" "" "0000322939" "0" "50" "12" "57431332" "57431332" "subst" "0.000508597" "01804" "MYO1A_000007" "g.57431332A>G" "" "" "" "MYO1A(NM_001256041.1):c.2055T>C (p.T685=, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57037548A>G" "" "VUS" "" "0000322940" "0" "50" "12" "57441193" "57441193" "subst" "8.16847E-6" "01804" "MYO1A_000009" "g.57441193T>C" "" "" "" "MYO1A(NM_001256041.1):c.326-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57047409T>C" "" "VUS" "" "0000322941" "0" "50" "12" "57441831" "57441831" "subst" "9.74896E-5" "01804" "MYO1A_000011" "g.57441831C>T" "" "" "" "MYO1A(NM_001256041.1):c.172G>A (p.(Gly58Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57048047C>T" "" "VUS" "" "0000480543" "0" "70" "12" "57434994" "57434994" "subst" "0" "03278" "MYO1A_000013" "g.57434994C>G" "" "{PMID:Cox 2019:31215115}" "" "" "" "Germline" "" "" "0" "" "" "g.57041210C>G" "" "VUS" "" "0000548726" "0" "30" "12" "57422595" "57422595" "subst" "9.8235E-5" "02330" "MYO1A_000014" "g.57422595T>C" "" "" "" "MYO1A(NM_001256041.2):c.3076A>G (p.S1026G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57028811T>C" "" "likely benign" "" "0000548727" "0" "10" "12" "57422934" "57422934" "subst" "0.0947345" "02330" "MYO1A_000015" "g.57422934G>A" "" "" "" "MYO1A(NM_001256041.2):c.2987C>T (p.T996I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57029150G>A" "" "benign" "" "0000548728" "0" "10" "12" "57424918" "57424918" "subst" "0.00451614" "01943" "MYO1A_000016" "g.57424918G>A" "" "" "" "MYO1A(NM_001256041.1):c.2390C>T (p.S797F), MYO1A(NM_001256041.2):c.2390C>T (p.S797F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57031134G>A" "" "benign" "" "0000548729" "0" "10" "12" "57430539" "57430540" "del" "0" "02330" "MYO1A_000017" "g.57430539_57430540del" "" "" "" "MYO1A(NM_001256041.2):c.2274+20_2274+21delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57036755_57036756del" "" "benign" "" "0000548730" "0" "30" "12" "57431355" "57431355" "subst" "0.0030553" "02330" "MYO1A_000018" "g.57431355T>A" "" "" "" "MYO1A(NM_001256041.2):c.2032A>T (p.I678F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57037571T>A" "" "likely benign" "" "0000548731" "0" "50" "12" "57431366" "57431366" "subst" "0.000602228" "01943" "MYO1A_000019" "g.57431366C>T" "" "" "" "MYO1A(NM_001256041.1):c.2021G>A (p.G674D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57037582C>T" "" "VUS" "" "0000548732" "0" "10" "12" "57431402" "57431402" "subst" "0.0300554" "02330" "MYO1A_000020" "g.57431402C>T" "" "" "" "MYO1A(NM_001256041.2):c.1985G>A (p.G662E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57037618C>T" "" "benign" "" "0000548733" "0" "10" "12" "57435052" "57435052" "subst" "0.0357564" "02330" "MYO1A_000021" "g.57435052A>G" "" "" "" "MYO1A(NM_001256041.2):c.1185T>C (p.F395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57041268A>G" "" "benign" "" "0000548734" "0" "30" "12" "57437119" "57437119" "subst" "0.00541707" "02330" "MYO1A_000022" "g.57437119C>T" "" "" "" "MYO1A(NM_001256041.2):c.916G>A (p.V306M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57043335C>T" "" "likely benign" "" "0000548735" "0" "50" "12" "57437976" "57437976" "subst" "0.000321264" "01943" "MYO1A_000023" "g.57437976G>A" "" "" "" "MYO1A(NM_001256041.1):c.658C>T (p.R220W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57044192G>A" "" "VUS" "" "0000548736" "0" "50" "12" "57440416" "57440416" "subst" "4.06706E-5" "02330" "MYO1A_000024" "g.57440416C>T" "" "" "" "MYO1A(NM_001256041.2):c.560G>A (p.R187Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57046632C>T" "" "VUS" "" "0000548737" "0" "30" "12" "57440735" "57440736" "del" "0" "02330" "MYO1A_000025" "g.57440735_57440736del" "" "" "" "MYO1A(NM_001256041.2):c.478-17_478-16delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57046951_57046952del" "" "likely benign" "" "0000548738" "0" "30" "12" "57441459" "57441459" "subst" "0.00291861" "02330" "MYO1A_000010" "g.57441459G>A" "" "" "" "MYO1A(NM_001256041.1):c.277C>T (p.R93*), MYO1A(NM_001256041.2):c.277C>T (p.R93*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57047675G>A" "" "likely benign" "" "0000548739" "0" "50" "12" "57442017" "57442017" "subst" "2.43952E-5" "01943" "MYO1A_000026" "g.57442017G>A" "" "" "" "MYO1A(NM_001256041.1):c.91C>T (p.R31C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57048233G>A" "" "VUS" "" "0000622942" "0" "30" "12" "57430099" "57430099" "subst" "0.000760422" "02330" "MYO1A_000027" "g.57430099T>C" "" "" "" "MYO1A(NM_001256041.2):c.2341A>G (p.K781E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57036315T>C" "" "likely benign" "" "0000648624" "1" "30" "12" "57431355" "57431355" "subst" "0.0030553" "03575" "MYO1A_000018" "g.57431355T>A" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs151269703}" "Germline" "" "rs151269703" "0" "" "" "g.57037571T>A" "" "likely benign" "" "0000648625" "1" "30" "12" "57431402" "57431402" "subst" "0.0300554" "03575" "MYO1A_000020" "g.57431402C>T" "83/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "83 heterozygous, no homozygous; {DB:CLININrs33962952}" "Germline" "" "rs33962952" "0" "" "" "g.57037618C>T" "" "likely benign" "" "0000679603" "0" "30" "12" "57422575" "57422575" "subst" "0.000208224" "01943" "MYO1A_000028" "g.57422575T>C" "" "" "" "MYO1A(NM_001256041.1):c.3096A>G (p.K1032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679604" "0" "30" "12" "57423517" "57423517" "subst" "0.00134082" "01943" "MYO1A_000029" "g.57423517C>T" "" "" "" "MYO1A(NM_001256041.1):c.2724+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679605" "0" "50" "12" "57430867" "57430867" "subst" "8.12486E-6" "01943" "MYO1A_000030" "g.57430867G>T" "" "" "" "MYO1A(NM_001256041.1):c.2064C>A (p.Y688*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691392" "0" "10" "12" "57422645" "57422645" "subst" "0.00463168" "02330" "MYO1A_000031" "g.57422645T>G" "" "" "" "MYO1A(NM_001256041.2):c.3026A>C (p.E1009A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691393" "0" "30" "12" "57423002" "57423002" "subst" "0.00268518" "02330" "MYO1A_000032" "g.57423002G>A" "" "" "" "MYO1A(NM_001256041.2):c.2919C>T (p.S973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691394" "0" "10" "12" "57424918" "57424918" "subst" "0.00451614" "02330" "MYO1A_000016" "g.57424918G>A" "" "" "" "MYO1A(NM_001256041.1):c.2390C>T (p.S797F), MYO1A(NM_001256041.2):c.2390C>T (p.S797F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691395" "0" "50" "12" "57430162" "57430162" "subst" "2.4396E-5" "01943" "MYO1A_000033" "g.57430162G>A" "" "" "" "MYO1A(NM_001256041.1):c.2278C>T (p.R760*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691396" "0" "50" "12" "57437748" "57437748" "subst" "0.00029676" "01943" "MYO1A_000034" "g.57437748G>A" "" "" "" "MYO1A(NM_001256041.1):c.784C>T (p.R262*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724153" "0" "50" "12" "57422543" "57422543" "subst" "2.44111E-5" "02330" "MYO1A_000035" "g.57422543T>A" "" "" "" "MYO1A(NM_005379.4):c.3128A>T (p.Q1043L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724154" "0" "10" "12" "57431312" "57431312" "subst" "0.00254894" "02330" "MYO1A_000036" "g.57431312T>G" "" "" "" "MYO1A(NM_001256041.2):c.2055+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724155" "0" "10" "12" "57432576" "57432576" "subst" "0.000859183" "02330" "MYO1A_000037" "g.57432576C>T" "" "" "" "MYO1A(NM_001256041.2):c.1533+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724156" "0" "30" "12" "57441459" "57441459" "subst" "0.00291861" "01943" "MYO1A_000010" "g.57441459G>A" "" "" "" "MYO1A(NM_001256041.1):c.277C>T (p.R93*), MYO1A(NM_001256041.2):c.277C>T (p.R93*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787582" "0" "50" "12" "57440417" "57440417" "subst" "2.84689E-5" "00000" "MYO1A_000038" "g.57440417G>A" "" "0" "" "" "" "Germline" "" "rs146269737" "0" "" "" "g.57046633G>A" "" "VUS" "" "0000805865" "0" "30" "12" "57432786" "57432786" "subst" "0.000416541" "02330" "MYO1A_000039" "g.57432786C>T" "" "" "" "MYO1A(NM_001256041.2):c.1340G>A (p.R447Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805866" "0" "30" "12" "57435209" "57435209" "del" "0" "01943" "MYO1A_000040" "g.57435209del" "" "" "" "MYO1A(NM_001256041.1):c.1164+7delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000943898" "21" "90" "12" "57423298" "57423298" "subst" "0" "00006" "MYO1A_000041" "g.57423298A>G" "" "{PMID:Talebi 2018:29308629}" "" "2804T>C (Ile935Thr)" "" "Germline" "" "" "0" "" "" "g.57029514A>G" "" "pathogenic (recessive)" "" "0001000253" "0" "70" "12" "57422969" "57422969" "subst" "0" "01804" "MYO1A_000042" "g.57422969G>C" "" "" "" "MYO1A(NM_005379.3):c.2952C>G (p.(Tyr984*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015003" "0" "90" "12" "57431331" "57431332" "inv" "0" "01943" "MYO1A_000043" "g.57431331_57431332inv" "" "" "" "MYO1A(NM_001256041.1):c.2055_2055+1delTGinsCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026219" "0" "50" "12" "57432194" "57432194" "subst" "8.132E-6" "02325" "MYO1A_000044" "g.57432194A>C" "" "" "" "MYO1A(NM_005379.4):c.1760+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058918" "0" "90" "12" "57431366" "57431366" "subst" "0.000602228" "00006" "MYO1A_000019" "g.57431366C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.57037582C>T" "" "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 MYO1A ## Count = 51 "{{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}}" "0000089904" "00014168" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.Glu974Lys" "" "0000089944" "00014168" "50" "1010" "0" "1010" "0" "c.1010A>G" "r.(?)" "p.(Gln337Arg)" "" "0000169384" "00014168" "00" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000255632" "00014168" "90" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Thr685=)" "" "0000296225" "00014168" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Ter)" "" "0000302681" "00014168" "30" "-20" "-3" "-20" "-3" "c.-20-3C>T" "r.spl?" "p.?" "" "0000302682" "00014168" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Tyr382=)" "" "0000302684" "00014168" "90" "2055" "1" "2055" "1" "c.2055+1G>T" "r.spl?" "p.?" "" "0000302685" "00014168" "30" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Arg768Trp)" "" "0000322938" "00014168" "50" "2055" "1" "2055" "1" "c.2055+1G>T" "r.spl?" "p.?" "" "0000322939" "00014168" "50" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Thr685=)" "" "0000322940" "00014168" "50" "326" "-2" "326" "-2" "c.326-2A>G" "r.spl?" "p.?" "" "0000322941" "00014168" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Arg)" "" "0000480543" "00014168" "70" "1243" "0" "1243" "0" "c.1243G>C" "r.(?)" "p.(Glu415Gln)" "" "0000548726" "00014168" "30" "3076" "0" "3076" "0" "c.3076A>G" "r.(?)" "p.(Ser1026Gly)" "" "0000548727" "00014168" "10" "2987" "0" "2987" "0" "c.2987C>T" "r.(?)" "p.(Thr996Ile)" "" "0000548728" "00014168" "10" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Ser797Phe)" "" "0000548729" "00014168" "10" "2274" "20" "2274" "21" "c.2274+20_2274+21del" "r.(=)" "p.(=)" "" "0000548730" "00014168" "30" "2032" "0" "2032" "0" "c.2032A>T" "r.(?)" "p.(Ile678Phe)" "" "0000548731" "00014168" "50" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "" "0000548732" "00014168" "10" "1985" "0" "1985" "0" "c.1985G>A" "r.(?)" "p.(Gly662Glu)" "" "0000548733" "00014168" "10" "1185" "0" "1185" "0" "c.1185T>C" "r.(?)" "p.(Phe395=)" "" "0000548734" "00014168" "30" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Val306Met)" "" "0000548735" "00014168" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000548736" "00014168" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187Gln)" "" "0000548737" "00014168" "30" "478" "-17" "478" "-16" "c.478-17_478-16del" "r.(=)" "p.(=)" "" "0000548738" "00014168" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Ter)" "" "0000548739" "00014168" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Cys)" "" "0000622942" "00014168" "30" "2341" "0" "2341" "0" "c.2341A>G" "r.(?)" "p.(Lys781Glu)" "" "0000648624" "00014168" "30" "2032" "0" "2032" "0" "c.2032A>T" "r.(?)" "p.(Ile678Phe)" "" "0000648625" "00014168" "30" "1985" "0" "1985" "0" "c.1985G>A" "r.(?)" "p.(Gly662Glu)" "" "0000679603" "00014168" "30" "3096" "0" "3096" "0" "c.3096A>G" "r.(?)" "p.(Lys1032=)" "" "0000679604" "00014168" "30" "2724" "7" "2724" "7" "c.2724+7G>A" "r.(=)" "p.(=)" "" "0000679605" "00014168" "50" "2064" "0" "2064" "0" "c.2064C>A" "r.(?)" "p.(Tyr688Ter)" "" "0000691392" "00014168" "10" "3026" "0" "3026" "0" "c.3026A>C" "r.(?)" "p.(Glu1009Ala)" "" "0000691393" "00014168" "30" "2919" "0" "2919" "0" "c.2919C>T" "r.(?)" "p.(Ser973=)" "" "0000691394" "00014168" "10" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Ser797Phe)" "" "0000691395" "00014168" "50" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Ter)" "" "0000691396" "00014168" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Ter)" "" "0000724153" "00014168" "50" "3128" "0" "3128" "0" "c.3128A>T" "r.(?)" "p.(Gln1043Leu)" "" "0000724154" "00014168" "10" "2055" "20" "2055" "20" "c.2055+20A>C" "r.(=)" "p.(=)" "" "0000724155" "00014168" "10" "1533" "17" "1533" "17" "c.1533+17G>A" "r.(=)" "p.(=)" "" "0000724156" "00014168" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Ter)" "" "0000787582" "00014168" "50" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Ter)" "8" "0000805865" "00014168" "30" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447Gln)" "" "0000805866" "00014168" "30" "1164" "7" "1164" "7" "c.1164+7del" "r.(=)" "p.(=)" "" "0000943898" "00014168" "90" "2798" "0" "2798" "0" "c.2798T>C" "r.(?)" "p.(Ile933Thr)" "" "0001000253" "00014168" "70" "2952" "0" "2952" "0" "c.2952C>G" "r.(?)" "p.(Tyr984*)" "" "0001015003" "00014168" "90" "2055" "0" "2055" "1" "c.2055_2055+1inv" "r.spl?" "p.?" "" "0001026219" "00014168" "50" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl?" "p.?" "" "0001058918" "00014168" "90" "2021" "0" "2021" "0" "c.2021G>A" "r.(?)" "p.(Gly674Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000059107" "0000089904" "0000059137" "0000089944" "0000104497" "0000169384" "0000232512" "0000480543" "0000291935" "0000648624" "0000291936" "0000648625" "0000375904" "0000787582" "0000442599" "0000943898" "0000470796" "0001058918"