### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MSTO1) # 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}}" "MSTO1" "misato homolog 1 (Drosophila)" "1" "q22" "unknown" "NC_000001.10" "UD_136022318421" "" "http://www.LOVD.nl/MSTO1" "" "1" "29678" "55154" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MSTO1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-16 21:01:02" "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}}" "00013976" "MSTO1" "transcript variant 1" "004" "NM_018116.3" "" "NP_060586.2" "" "" "" "-79" "2407" "1713" "155579961" "155584758" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "05946" "MMYAT" "myopathy, mitochondrial, and ataxia (MMYAT)" "AD;AR" "617675" "" "" "" "00006" "2021-05-28 14:36:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MSTO1" "05946" ## 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}}" "00087232" "" "" "" "2" "" "00095" "{PMID:Nasca 2017:28544275}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "" "FamAPatII1" "00288206" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat16" "00373742" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "iw019" "00375185" "" "" "" "1" "" "00006" "{PMID:Nasca 2017:28544275}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamBPatII2" "00375186" "" "" "" "4" "" "00006" "{PMID:Gal 2017:28554942}" "2-generation family, affected mother, daughter and 2 sons" "F" "no" "Hungary" "" "0" "" "" "" "FamPatII1" "00375187" "" "" "" "1" "" "00006" "{PMID:Iwama 2018:29339779}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00375188" "" "" "" "1" "" "00006" "{PMID:Iwama 2018:29339779}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00375189" "" "" "" "2" "" "00006" "{PMID:Li 2020:30684668}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "FamPatII1" "00375190" "" "" "00375189" "1" "" "00006" "{PMID:Li 2020:30684668}" "brother" "M" "no" "China" "" "0" "" "" "" "FamPatII2" "00460225" "" "" "" "1" "" "00006" "{PMID:Mao 2025:39815277}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "G094-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00087232" "01926" "00288206" "00198" "00373742" "00198" "00375185" "01926" "00375186" "01926" "00375187" "00198" "00375188" "00198" "00375189" "00244" "00375190" "00244" "00460225" "00360" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00360, 01926, 05946 ## Count = 10 "{{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}}" "0000066759" "01926" "00087232" "00095" "Familial, autosomal recessive" "16y" "see paper; ..., congenital myopathy, ataxia, skeletal abnormalities, Cesarean section due tonon-reassuring fetal status, slight neonatal asphyxia (Apgar score 5/7), intact in first months after birth; severe growth delay, severe motor delay; severe growth impairment (<3rd percentile); no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pgmentary retinopathy, papillary pallor; triangular face, sunken eyes, chest asymmetry; raised CK (1200U/L); muscle biopsy myopathic; MRI global cerebellar hypotrophy, enlarged cisterna magna, hyperintense signals in the supra-tentorial periventricular and posterior white matter" "<00y09m" "" "" "" "" "" "" "" "MMYAT" "" "" "0000221943" "00198" "00288206" "00006" "Familial" "9y" "developmental delay, cerebellar hypoplasia, cerebellar atrophy, myopathy, hypotonia, motor delay, ataxia, tremor" "" "" "" "" "" "" "" "" "" "" "" "0000268966" "00198" "00373742" "01864" "Familial, autosomal recessive" "" "HP:0004322; HP:0004325; HP:0001252; HP:0001249; HP:0001263; HP:0000750; HP:0001270" "" "" "" "" "" "" "" "" "MMYAT" "" "" "0000270395" "01926" "00375185" "00006" "Familial, autosomal recessive" "03y06m" "see paper; ..., reluctance to stand and walk unsupported, speech acquisition delay; no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; ophthalomology normal; tightness Achilles tendons; raised CK (5420 IU/L; 3y6m-MRI hypoplasia cerebellar vermis and hemispheres" "01y" "" "" "" "" "" "" "" "MMYAT" "" "" "0000270396" "01926" "00375186" "00006" "Familial, autosomal dominant" "38y" "see paper; ..., mitochondrial myopathy, ataxia, muscle weakness; short stature (150 cm); no seizure; adiadochokinesia; ophthalmology normal; normal CK; muscle biopsy myopathic; frontal atrophy, enlarged interhemispheric fissure" "38y" "" "" "" "" "" "" "" "MMYAT" "" "" "0000270397" "00198" "00375187" "00006" "Familial, autosomal recessive" "08y" "birth 40w, emergency cesarean section due to non-reassuring fetal status, non asphyxia, OFC 31.5 cm (−1.4 SD), weght 3055 g (+0.2 SD), height 45.7 cm (−2.0 SD); motor delay; slight intellectual disability; perverted ocular movement; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pigmentary retinopathy, esotropia, hypermetropia; recurrent digestive symptom; scoliosis; plasma CK 430 U/K; MRI atrophy cerebellar vermis and hemispheres" "00y05m" "" "" "" "" "" "" "" "" "cerebellar atrophy, pigmentary retinopathy" "" "0000270398" "00198" "00375188" "00006" "Familial, autosomal recessive" "02y" "birth 41w5d, Cesarean section due to abrupt placentae and non-reassuring fetal status, slight neonatal asphyxia (Apgar score 6/8), OFC 30.5 cm (−2.7 SD), weght 2860 g (−1.1 SD), height 50 cm (−0.1 SD); hypotonus, multiple arthrogryposis; severe growth impairment height <−2 SD, weight <−2 SD; intellectual disability; no perverted ocular movement; no seizure; muscle weakness; tremor; no dysmetry; walking disturbance; suspected pigmentary retinopathy (not clear), arthrogryposis; 7d-plasma CK 916 U/K, 2y2m-normal CK; MRI atrophy cerebellar vermis and hemispheres, pons, and tegmental area" "00y00m01d" "" "" "" "" "" "" "" "" "cerebellar atrophy, pigmentary retinopathy" "" "0000270399" "00244" "00375189" "00006" "Familial, autosomal recessive" "18y" "born after normal pregnancy, weight of 4400g, neonatal distress, psychomotor development normal; 1y-unable to stand and walk unsupported; psycho-motor delay, slurred speech; muscle weakness; severe growth retardation, short stature (156 cm, -3SD), OFC 57 cm, weight 51 kg (normal range); pes planus, visual impairment; muscular atrophy not obvious; moderate truncal and lower limb ataxia; autistic features, anxiety; computed tomography brain cerebellar atrophy" "" "" "" "" "" "" "" "" "" "myopathy, cerebellar ataxia" "" "0000270400" "00244" "00375190" "00006" "Familial, autosomal recessive" "11y" "born by cesarean section after uneventful pregnancy, weight 3900g; 10m-severe growth and motor delay; similar course to brother incl. muscle weakness, cerebellar atrophy, ataxia; pes planus, mild genu valgus; psychomotor and mental retardation, hypertonia, failure to thrive; slightly short stature (138.4 cm, -2SD), myopia, myopathic face, poor fine coordination; OFC 55.5 cm, weight 32 kg (normal range); sSerum CK significantly elevated (2544 U/L); elevated anti-thyroid peroxidase antibody (anti-TPO) and antithyroglobulin (anti-TG); EMG myopathic pattern; MRI brain atrophy cerebellum and brain stem, predominating at cerebellum" "" "" "" "" "" "" "" "" "" "myopathy, cerebellar ataxia" "" "0000347953" "00360" "00460225" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., motor retardation; mild hypertonia; EEG normal; MR cerebellar hypoplasia, mild development delay" "" "" "" "" "" "" "" "" "MMYAT" "congenital muscular dystrophy/myopathy" "" ## 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}}" "0000087371" "00087232" "1" "00095" "00095" "2016-11-16 14:48:45" "" "" "SEQ-NG" "DNA" "" "" "0000289375" "00288206" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "muscle, fibroblast" "WES" "0000374975" "00373742" "1" "01864" "01864" "2021-05-19 17:08:37" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000376379" "00375185" "1" "00006" "00006" "2021-05-28 19:41:21" "00006" "2021-05-28 19:46:17" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000376380" "00375186" "1" "00006" "00006" "2021-05-28 19:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000376381" "00375187" "1" "00006" "00006" "2021-05-28 20:57:12" "00006" "2021-05-28 21:02:25" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000376382" "00375188" "1" "00006" "00006" "2021-05-28 21:10:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000376383" "00375189" "1" "00006" "00006" "2021-05-29 20:52:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000376384" "00375190" "1" "00006" "00006" "2021-05-29 20:52:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000461856" "00460225" "1" "00006" "00006" "2025-01-21 21:16:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000087371" "MSTO1" "0000289375" "MSTO1" "0000374975" "MSTO1" "0000376379" "MSTO1" "0000376381" "MSTO1" "0000376382" "MSTO1" "0000376383" "MSTO1" "0000376384" "MSTO1" ## 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 = 30 "{{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}}" "0000140543" "21" "90" "1" "155582701" "155582701" "subst" "2.0336E-5" "00095" "MSTO1_000001" "g.155582701C>T" "" "{PMID:Nasca 2017:28544275}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155612910C>T" "" "pathogenic (recessive)" "" "0000140544" "11" "90" "1" "155582869" "155582869" "subst" "0" "00095" "MSTO1_000002" "g.155582869C>A" "" "{PMID:Nasca 2017:28544275}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155613078C>A" "" "pathogenic (recessive)" "" "0000645304" "21" "70" "1" "155581889" "155581889" "subst" "4.07465E-6" "00006" "MSTO1_000003" "g.155581889C>T" "" "{PMID:Lee 2019:31607746}" "" "" "exon retraction" "Germline" "" "" "0" "" "" "g.155612098C>T" "{CV:000746658.2}" "likely pathogenic (recessive)" "" "0000645329" "11" "70" "1" "155582639" "155582639" "subst" "4.071E-5" "00006" "MSTO1_000004" "g.155582639C>T" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.155612848C>T" "{CV:000746659.2}" "likely pathogenic (recessive)" "" "0000716886" "0" "90" "1" "155581864" "155581864" "subst" "5.74463E-5" "02325" "MSTO1_000005" "g.155581864C>G" "" "" "" "MSTO1(NM_018116.4):c.651C>G (p.F217L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000785951" "11" "90" "1" "155582850" "155582850" "subst" "0" "01864" "MSTO1_000007" "g.155582850C>G" "" "" "wjqiu" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000785952" "21" "90" "1" "155582071" "155582073" "del" "0" "01864" "MSTO1_000006" "g.155582071_155582073del" "" "" "wjqiu" "" "" "Germline" "yes" "" "0" "" "" "g.155612280_155612282del" "" "VUS" "ACGS" "0000787968" "11" "90" "1" "155582639" "155582639" "subst" "4.071E-5" "00006" "MSTO1_000004" "g.155582639C>T" "" "{PMID:Nasca 2017:28544275}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787969" "21" "90" "1" "155582362" "155582362" "subst" "8.31117E-6" "00006" "MSTO1_000008" "g.155582362G>A" "" "{PMID:Nasca 2017:28544275}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787970" "21" "90" "1" "155580061" "155580061" "subst" "0" "00006" "MSTO1_000009" "g.155580061G>A" "" "{PMID:Gal 2017:28554942}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000787971" "11" "90" "1" "155582231" "155582231" "subst" "8.1406E-5" "00006" "MSTO1_000010" "g.155582231G>A" "" "{PMID:Iwama 2018:29339779}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787972" "21" "90" "1" "155582839" "155582839" "subst" "4.06138E-6" "00006" "MSTO1_000011" "g.155582839G>A" "" "{PMID:Iwama 2018:29339779}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787973" "11" "90" "1" "155582231" "155582231" "subst" "8.1406E-5" "00006" "MSTO1_000010" "g.155582231G>A" "" "{PMID:Iwama 2018:29339779}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787974" "21" "90" "1" "155580118" "155580118" "subst" "0" "00006" "MSTO1_000012" "g.155580118C>T" "" "{PMID:Iwama 2018:29339779}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787975" "11" "90" "1" "155582231" "155582231" "subst" "8.1406E-5" "00006" "MSTO1_000010" "g.155582231G>A" "" "{PMID:Li 2020:30684668}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787976" "21" "90" "1" "155583000" "155583000" "del" "0" "00006" "MSTO1_000013" "g.155583000del" "" "{PMID:Li 2020:30684668}" "" "1259delG" "" "Germline" "yes" "" "0" "" "" "g.155613209del" "" "pathogenic (recessive)" "" "0000787977" "11" "90" "1" "155582231" "155582231" "subst" "8.1406E-5" "00006" "MSTO1_000010" "g.155582231G>A" "" "{PMID:Li 2020:30684668}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787978" "21" "90" "1" "155583000" "155583000" "del" "0" "00006" "MSTO1_000013" "g.155583000del" "" "{PMID:Li 2020:30684668}" "" "1259delG" "" "Germline" "yes" "" "0" "" "" "g.155613209del" "" "pathogenic (recessive)" "" "0000928026" "0" "50" "1" "155580060" "155580060" "subst" "0" "02327" "MSTO1_000014" "g.155580060G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928027" "0" "30" "1" "155582257" "155582257" "subst" "0.00100753" "02326" "MSTO1_000015" "g.155582257G>A" "" "" "" "MSTO1(NM_018116.4):c.862G>A (p.V288M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928028" "0" "50" "1" "155584029" "155584029" "subst" "0" "02327" "MSTO1_000016" "g.155584029C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946992" "0" "50" "1" "155583257" "155583257" "subst" "2.03231E-5" "02325" "MSTO1_000017" "g.155583257C>G" "" "" "" "MSTO1(NM_018116.4):c.1288C>G (p.L430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973375" "0" "50" "1" "155582061" "155582061" "subst" "0.000146263" "01804" "MSTO1_000018" "g.155582061G>A" "" "" "" "MSTO1(NM_018116.4):c.767G>A (p.(Arg256Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973376" "0" "50" "1" "155583543" "155583543" "subst" "0" "01804" "MSTO1_000019" "g.155583543C>T" "" "" "" "MSTO1(NM_018116.4):c.1484C>T (p.(Ser495Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973377" "0" "50" "1" "155583887" "155583887" "subst" "6.23014E-5" "01804" "MSTO1_000020" "g.155583887C>T" "" "" "" "MSTO1(NM_001350775.1):c.1561C>T (p.(Leu521Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001021225" "21" "70" "1" "155581988" "155581988" "subst" "0" "00006" "MSTO1_000021" "g.155581988T>G" "" "{PMID:Mao 2025:39815277}" "" "" "ACMG PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.155612197T>G" "" "likely pathogenic (recessive)" "ACMG" "0001021230" "11" "90" "1" "155582839" "155582839" "subst" "4.06138E-6" "00006" "MSTO1_000011" "g.155582839G>A" "" "{PMID:Mao 2025:39815277}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.155613048G>A" "" "pathogenic (recessive)" "ACMG" "0001031347" "0" "50" "1" "155582702" "155582702" "subst" "4.06726E-6" "01804" "MSTO1_000022" "g.155582702G>A" "" "" "" "MSTO1(NM_018116.4):c.1034G>A (p.(Arg345His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031348" "0" "30" "1" "155583325" "155583325" "subst" "2.91431E-5" "01804" "MSTO1_000023" "g.155583325G>C" "" "" "" "MSTO1(NM_018116.4):c.1356G>C (p.(Gln452His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045597" "0" "30" "1" "155582256" "155582256" "subst" "2.03138E-5" "02326" "MSTO1_000024" "g.155582256C>T" "" "" "" "MSTO1(NM_018116.4):c.861C>T (p.L287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MSTO1 ## Count = 30 "{{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}}" "0000140543" "00013976" "90" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345Cys)" "10" "0000140544" "00013976" "90" "1128" "0" "1128" "0" "c.1128C>A" "r.(?)" "p.(Phe376Leu)" "11" "0000645304" "00013976" "70" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Gln226*)" "" "0000645329" "00013976" "70" "971" "0" "971" "0" "c.971C>T" "r.971c>u" "p.(Thr324Ile)" "" "0000716886" "00013976" "90" "651" "0" "651" "0" "c.651C>G" "r.(?)" "p.(Phe217Leu)" "" "0000785951" "00013976" "90" "1109" "0" "1109" "0" "c.1109C>G" "r.(?)" "p.(Ala370Gly)" "11" "0000785952" "00013976" "90" "777" "0" "779" "0" "c.777_779del" "r.(?)" "p.(Thr260del)" "8" "0000787968" "00013976" "90" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Ile)" "" "0000787969" "00013976" "90" "966" "1" "966" "1" "c.966+1G>A" "r.814_966del" "p.Glu272_Asp322del" "" "0000787970" "00013976" "90" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Met)" "" "0000787971" "00013976" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" "0000787972" "00013976" "90" "1099" "-1" "1099" "-1" "c.1099-1G>A" "r.1099del" "p.Val367Trpfs*2" "" "0000787973" "00013976" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" "0000787974" "00013976" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27*)" "" "0000787975" "00013976" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" "0000787976" "00013976" "90" "1259" "0" "1259" "0" "c.1259del" "r.(?)" "p.(Gly420Valfs*2)" "" "0000787977" "00013976" "90" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" "0000787978" "00013976" "90" "1259" "0" "1259" "0" "c.1259del" "r.(?)" "p.(Gly420Valfs*2)" "" "0000928026" "00013976" "50" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(Glu7Asp)" "" "0000928027" "00013976" "30" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Met)" "" "0000928028" "00013976" "50" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Gln560*)" "" "0000946992" "00013976" "50" "1288" "0" "1288" "0" "c.1288C>G" "r.(?)" "p.(Leu430Val)" "" "0000973375" "00013976" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256Gln)" "" "0000973376" "00013976" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ser495Phe)" "" "0000973377" "00013976" "50" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(=)" "" "0001021225" "00013976" "70" "694" "0" "694" "0" "c.694T>G" "r.(?)" "p.(Cys232Gly)" "8" "0001021230" "00013976" "90" "1099" "-1" "1099" "-1" "c.1099-1G>A" "r.spl" "p.?" "10i" "0001031347" "00013976" "50" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345His)" "" "0001031348" "00013976" "30" "1356" "0" "1356" "0" "c.1356G>C" "r.(?)" "p.(Gln452His)" "" "0001045597" "00013976" "30" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000087371" "0000140543" "0000087371" "0000140544" "0000289375" "0000645304" "0000289375" "0000645329" "0000374975" "0000785951" "0000374975" "0000785952" "0000376379" "0000787968" "0000376379" "0000787969" "0000376380" "0000787970" "0000376381" "0000787971" "0000376381" "0000787972" "0000376382" "0000787973" "0000376382" "0000787974" "0000376383" "0000787975" "0000376383" "0000787976" "0000376384" "0000787977" "0000376384" "0000787978" "0000461856" "0001021225" "0000461856" "0001021230"