### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO9B) # 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}}" "MYO9B" "myosin IXB" "19" "p13.1" "unknown" "NG_013068.1" "UD_132118390459" "" "https://www.LOVD.nl/MYO9B" "" "1" "7609" "4650" "602129" "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/MYO9B_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-06-21 11:01:24" "00000" "2025-05-05 21:14:00" ## 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}}" "00025291" "MYO9B" "transcript variant 1" "002" "NM_004145.3" "" "NP_004136.2" "" "" "" "-152" "7459" "6474" "17186591" "17324104" "00006" "2018-06-21 11:02:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02874" "CELIAC4" "celiac disease, susceptibility to, type 4 (CELIAC-4)" "" "609753" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYO9B" "02874" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00165018" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00292062" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00165018" "00091" "00292062" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 01157, 02874 ## Count = 1 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000165888" "00165018" "1" "02509" "02509" "2018-06-20 16:50:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000293230" "00292062" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## 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 = 26 "{{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}}" "0000005845" "0" "50" "19" "17230199" "17230199" "subst" "0" "00037" "MYO9B_000001" "g.17230199C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17119389C>T" "" "VUS" "" "0000251635" "0" "10" "19" "17294689" "17294689" "subst" "0" "02326" "MYO9B_000004" "g.17294689A>C" "" "" "" "MYO9B(NM_001130065.2):c.2373+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17183880A>C" "" "benign" "" "0000302776" "0" "50" "19" "17212808" "17212808" "subst" "0.000286336" "01943" "MYO9B_000002" "g.17212808G>A" "" "" "" "MYO9B(NM_001130065.1):c.281G>A (p.R94Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17101998G>A" "" "VUS" "" "0000302777" "0" "30" "19" "17213169" "17213169" "subst" "4.06134E-6" "01943" "MYO9B_000003" "g.17213169C>T" "" "" "" "MYO9B(NM_001130065.1):c.642C>T (p.H214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17102359C>T" "" "likely benign" "" "0000369668" "0" "90" "19" "17314015" "17314015" "subst" "0" "02509" "MYO9B_000005" "g.17314015C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17203206C>A" "" "pathogenic" "" "0000566522" "0" "30" "19" "17212775" "17212775" "subst" "2.86125E-5" "01804" "MYO9B_000006" "g.17212775C>T" "" "" "" "MYO9B(NM_001130065.1):c.248C>T (p.(Ser83Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17101965C>T" "" "likely benign" "" "0000566523" "0" "30" "19" "17316775" "17316775" "subst" "0" "01943" "MYO9B_000007" "g.17316775C>G" "" "" "" "MYO9B(NM_001130065.1):c.5071C>G (p.P1691A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17205966C>G" "" "likely benign" "" "0000566525" "0" "50" "19" "17317059" "17317059" "subst" "0.000500275" "01804" "MYO9B_000009" "g.17317059C>G" "" "" "" "MYO9B(NM_001130065.1):c.5260C>G (p.(Pro1754Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17206250C>G" "" "VUS" "" "0000649919" "1" "10" "19" "17311226" "17311226" "subst" "0.0296506" "03575" "MYO9B_000010" "g.17311226G>A" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs117099942}" "Germline" "" "rs117099942" "0" "" "" "g.17200417G>A" "" "benign" "" "0000681330" "0" "30" "19" "17316950" "17316950" "subst" "5.01278E-5" "01943" "MYO9B_000011" "g.17316950C>T" "" "" "" "MYO9B(NM_001130065.1):c.5246C>T (p.A1749V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692716" "0" "50" "19" "17316768" "17316768" "subst" "0" "01943" "MYO9B_000012" "g.17316768G>A" "" "" "" "MYO9B(NM_001130065.1):c.5065-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865951" "0" "50" "19" "17298837" "17298837" "subst" "0.000324248" "01943" "MYO9B_000013" "g.17298837G>A" "" "" "" "MYO9B(NM_001130065.1):c.2671G>A (p.A891T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894850" "0" "50" "19" "17212814" "17212814" "subst" "0.00189037" "02325" "MYO9B_000014" "g.17212814A>G" "" "" "" "MYO9B(NM_004145.4):c.287A>G (p.Q96R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894851" "0" "50" "19" "17303613" "17303613" "subst" "0" "02325" "MYO9B_000015" "g.17303613T>C" "" "" "" "MYO9B(NM_004145.4):c.2870T>C (p.V957A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983295" "0" "50" "19" "17283739" "17283739" "subst" "0.000208173" "01804" "MYO9B_000016" "g.17283739C>T" "" "" "" "MYO9B(NM_004145.4):c.2107C>T (p.(Arg703Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004495" "0" "50" "19" "17283736" "17283736" "subst" "8.23859E-5" "01804" "MYO9B_000017" "g.17283736G>A" "" "" "" "MYO9B(NM_001130065.1):c.2104G>A (p.(Gly702Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004496" "0" "50" "19" "17316802" "17316802" "subst" "0.00138736" "01804" "MYO9B_000018" "g.17316802G>A" "" "" "" "MYO9B(NM_001130065.1):c.5098G>A (p.(Val1700Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011769" "0" "30" "19" "17313001" "17313001" "subst" "0" "03779" "MYO9B_000019" "g.17313001C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1320837956" "0" "" "" "" "" "likely benign" "" "0001027191" "0" "50" "19" "17303684" "17303684" "subst" "1.35104E-5" "02325" "MYO9B_000020" "g.17303684C>T" "" "" "" "MYO9B(NM_004145.4):c.2941C>T (p.R981W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027192" "0" "50" "19" "17323085" "17323085" "subst" "0.000422512" "02325" "USE1_000003" "g.17323085G>T" "" "" "" "MYO9B(NM_004145.4):c.6440G>T (p.C2147F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042760" "0" "50" "19" "17213130" "17213130" "subst" "0" "01804" "MYO9B_000021" "g.17213130G>T" "" "" "" "MYO9B(NM_004145.4):c.603G>T (p.(Lys201Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042761" "0" "50" "19" "17264841" "17264841" "subst" "0.000256191" "01804" "MYO9B_000022" "g.17264841C>T" "" "" "" "MYO9B(NM_004145.4):c.1063C>T (p.(Leu355Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042762" "0" "30" "19" "17283562" "17283562" "subst" "0" "02325" "MYO9B_000023" "g.17283562C>A" "" "" "" "MYO9B(NM_004145.4):c.1936-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042763" "0" "30" "19" "17298864" "17298864" "subst" "0.000627647" "01804" "MYO9B_000024" "g.17298864A>T" "" "" "" "MYO9B(NM_004145.4):c.2688+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042764" "0" "50" "19" "17316132" "17316132" "subst" "0.000101576" "01804" "MYO9B_000025" "g.17316132C>A" "" "" "" "MYO9B(NM_004145.4):c.5051C>A (p.(Thr1684Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042765" "0" "50" "19" "17316915" "17316915" "subst" "0.000102834" "01804" "MYO9B_000026" "g.17316915G>A" "" "" "" "MYO9B(NM_004145.4):c.5211G>A (p.(Ser1737=))" "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 MYO9B ## Count = 26 "{{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}}" "0000005845" "00025291" "00" "840" "16832" "840" "16832" "c.840+16832C>T" "r.(=)" "p.(=)" "" "0000251635" "00025291" "10" "2373" "12" "2373" "12" "c.2373+12A>C" "r.(=)" "p.(=)" "" "0000302776" "00025291" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "" "0000302777" "00025291" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(His214=)" "" "0000369668" "00025291" "90" "4938" "0" "4938" "0" "c.4938C>A" "r.(?)" "p.(Cys1646*)" "" "0000566522" "00025291" "30" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ser83Leu)" "" "0000566523" "00025291" "30" "5071" "0" "5071" "0" "c.5071C>G" "r.(?)" "p.(Pro1691Ala)" "" "0000566525" "00025291" "50" "5260" "0" "5260" "0" "c.5260C>G" "r.(?)" "p.(Pro1754Ala)" "" "0000649919" "00025291" "10" "4363" "0" "4363" "0" "c.4363G>A" "r.(?)" "p.(Gly1455Ser)" "" "0000681330" "00025291" "30" "5246" "0" "5246" "0" "c.5246C>T" "r.(?)" "p.(Ala1749Val)" "" "0000692716" "00025291" "50" "5065" "-1" "5065" "-1" "c.5065-1G>A" "r.spl?" "p.?" "" "0000865951" "00025291" "50" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Ala891Thr)" "" "0000894850" "00025291" "50" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(Gln96Arg)" "" "0000894851" "00025291" "50" "2870" "0" "2870" "0" "c.2870T>C" "r.(?)" "p.(Val957Ala)" "" "0000983295" "00025291" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Cys)" "" "0001004495" "00025291" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Gly702Arg)" "" "0001004496" "00025291" "50" "5098" "0" "5098" "0" "c.5098G>A" "r.(?)" "p.(Val1700Met)" "" "0001011769" "00025291" "30" "4725" "0" "4725" "0" "c.4725C>T" "r.(?)" "p.(Asn1575=)" "" "0001027191" "00025291" "50" "2941" "0" "2941" "0" "c.2941C>T" "r.(?)" "p.(Arg981Trp)" "" "0001027192" "00025291" "50" "6440" "0" "6440" "0" "c.6440G>T" "r.(?)" "p.(Cys2147Phe)" "" "0001042760" "00025291" "50" "603" "0" "603" "0" "c.603G>T" "r.(?)" "p.(Lys201Asn)" "" "0001042761" "00025291" "50" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Leu355Phe)" "" "0001042762" "00025291" "30" "1936" "-6" "1936" "-6" "c.1936-6C>A" "r.(=)" "p.(=)" "" "0001042763" "00025291" "30" "2688" "10" "2688" "10" "c.2688+10A>T" "r.(=)" "p.(=)" "" "0001042764" "00025291" "50" "5051" "0" "5051" "0" "c.5051C>A" "r.(?)" "p.(Thr1684Asn)" "" "0001042765" "00025291" "50" "5211" "0" "5211" "0" "c.5211G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005845" "0000165888" "0000369668" "0000293230" "0000649919"