### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MBTPS1) # 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}}" "MBTPS1" "membrane-bound transcription factor peptidase, site 1" "16" "q24" "unknown" "NG_033017.1" "UD_132378543902" "" "https://www.LOVD.nl/MBTPS1" "" "1" "15456" "8720" "603355" "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/MBTPS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-03 21:58:18" "00006" "2026-03-20 14:53:33" ## 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}}" "00011883" "MBTPS1" "membrane-bound transcription factor peptidase, site 1" "001" "NM_003791.2" "" "NP_003782.1" "" "" "" "-502" "3845" "3159" "84150517" "84087368" "" "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" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06316" "SEDKF" "dysplasia, spondyloepiphyseal, Kondo-Fu type" "AR" "618392" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2026-03-20 09:29:23" "07246" "CAOP" "cataract, alopecia, oral mucosal disorder, psoriasis-like syndrome" "AR" "621252" "" "" "" "00006" "2026-03-20 14:06:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MBTPS1" "06316" "MBTPS1" "07246" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00465602" "" "" "" "1" "" "04852" "{PMID:Lucas-Castro 2026:41024587}, {DOI:Lucas-Castro 2026:10.1111/cge.70084}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00474667" "" "" "" "1" "" "00006" "{PMID:Kondo 2018:30046013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "United States" "" "0" "" "" "" "patient" "00474668" "" "" "" "1" "" "00006" "{PMID:Meyer 2020:32857899}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Germany" "" "0" "" "" "" "patient" "00474670" "" "" "" "1" "" "00006" "{PMID:Carvalho 2020:32420688}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Brazil" "" "0" "" "" "" "patient" "00474671" "" "" "" "1" "" "00006" "{PMID:Alotaibi 2022:36330313}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "patient" "00474672" "" "" "" "1" "" "00006" "{PMID:Yuan 2023:36714646}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "patient" "00474674" "" "" "" "1" "" "00006" "{PMID:Chen 2023:36816387}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "patient" "00474675" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35362222}chi" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Pat1" "00474677" "" "" "" "1" "" "00006" "{PMID:Chen 2022:35362222}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Hispanic" "Pat2" "00474679" "" "" "" "1" "" "00006" "{PMID:Raggio 2024:38337829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Uruguay" "" "0" "" "" "" "patient" "00474682" "" "" "" "1" "" "00006" "{PMID:Schweitzer 2019:31070020}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00465602" "06316" "00474667" "05517" "00474668" "00232" "00474670" "05517" "00474671" "05517" "00474672" "05517" "00474674" "05517" "00474675" "00198" "00474677" "00198" "00474679" "05517" "00474682" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00232, 05517, 06316, 07246 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000359459" "06316" "00465602" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., 28wg-premature birth, weight 990g; 20y-height 113.5 cm, weight 26kg; pectus carinatum, protuberant abdomen, inguinal hernia, joint hypermobility, pes planus, cutis laxa, retromicrognathia; large ears, abnormal ears; cataract; craniosynostosis, no brachydactyly, genu valgo, valgus bowing tibia, hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, no developmental delay, motor delay, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF)" "spondyloepiphyseal dysplasia" "" "0000359460" "05517" "00474667" "00006" "Familial, autosomal recessive" "12y06m" "see paper; ..., 6m-growth height/weight slowed down; 2y-delayed gross motor milestones, normal speech development, normal cognitive development; pectus carinatum, protuberant abdomen, inguinal hernia, no joint hypermobility, normal feet, no cutaneous manifestations, retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis, brachydactyly, no genu valgo, valgus bowing tibia, no hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "skeletal dysplasia" "" "0000359461" "00232" "00474668" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., clinical diagnosis Silver-Russell syndrome; height 162cm, weight 62kg; pes valgus, sandal grooves; no cutaneous manifestations; no retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo; kyphoscoliosis; no developmental delay, motor delay, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "Silver-Russell syndrome" "" "0000359464" "05517" "00474670" "00006" "Familial, autosomal recessive" "5.7y" "see paper; ..., 34wg-premature birth, weight 1,970g (-Z-0.38), length 41 -cm (Z-1.13), FC 31 cm (Z-0.24); 3y-short stature, rhizomelic limb shortening, severe retromicrognathia; 5.7y-height 79cm, weight 9kg; pectus carinatum, protuberant abdomen, no inguinal hernia, no joint hypermobility, normal feet; no cutaneous manifestations; large ears, abnormal ears; cataract; craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia, no hip dysplasia, kyphosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, motor delay, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "spondyloepimetaphyseal dysplasia" "" "0000359465" "05517" "00474671" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., birth at term; early motor development delay, 2y-sit, 3y-walk, speech delay, subnormal mentality; 10y-height 102cm, weight 16kg; pectus carinatum, protuberant abdomen, no inguinal hernia, no joint hypermobility; pes cavus; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; no cataract; no craniosynostosis; brachydactyly, genu valgo, valgus bowing tibia; hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "pondyloepiphyseal dysplasia" "" "0000359466" "05517" "00474672" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., short stature, special facial features, serious sleep apnea syndrome; 12y-height 137cm, weight 40kg; pectus carinatum, protuberant abdomen, inguinal hernia; joint hypermobility; normal feet; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, scoliosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "spondyloepiphyseal dysplasia" "" "0000359468" "05517" "00474674" "00006" "Familial, autosomal recessive" "5.4y" "see paper; ..., birth at term; 4m-motor retardation, poor head-up, low muscular tension; 5.4y-height 99cm, weight 12.8kg; pectus carinatum, protuberant abdomen, no inguinal hernia; no joint hypermobility; normal feet; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, scoliosis, osteopenia, spondyloepiphyseal dysplasia, no developmental delay; motor delay; no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "skeletal dysplasia" "" "0000359470" "00198" "00474675" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., skeletal dysplasia; mild follicular keratosis, ichthyosis, generalized alopecia, photophobia, red swollen gums, psoriasis‐like lesions, psoriasiform perivasculitis, paronychia;bilateral cataracts" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CAOP" "skeletal dysplasia" "" "0000359471" "00198" "00474677" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., mild follicular keratosis, ichthyosis, generalized alopecia, photophobia, red and swollen gums, psoriasis‐like lesions, paronychia, psoriasiform perivasculitis, bilateral cataracts; developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CAOP" "" "" "0000359473" "05517" "00474679" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., pectus carinatum, no protuberant abdomen, inguinal hernia; no joint hypermobility; pes varus; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, kyphoscoliosis; spondyloepiphyseal dysplasia, no developmental delay; no motor delay; no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "SEDKF" "skeletal dysplasia" "" "0000359476" "00198" "00474682" "00006" "Unknown" "24y" "see paper; ..., focal myoedema (episodic, activity‐induced), myalgias, hyperCKemia, muscle fatigue, swelling; gastrointestinal hypomotility, ocular migraines, polycystic ovary syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hyperCKemia, myoedema" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000467250" "00465602" "1" "04852" "04852" "2025-05-23 11:56:23" "00006" "2025-05-27 16:52:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Blood" "WES" "0000476349" "00474667" "1" "00006" "00006" "2026-03-20 11:24:11" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000476350" "00474668" "1" "00006" "00006" "2026-03-20 12:03:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476352" "00474670" "1" "00006" "00006" "2026-03-20 13:25:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476353" "00474671" "1" "00006" "00006" "2026-03-20 13:34:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476354" "00474672" "1" "00006" "00006" "2026-03-20 13:44:06" "00006" "2026-03-20 13:53:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000476356" "00474674" "1" "00006" "00006" "2026-03-20 13:58:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476358" "00474675" "1" "00006" "00006" "2026-03-20 14:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476359" "00474677" "1" "00006" "00006" "2026-03-20 14:20:06" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000476361" "00474679" "1" "00006" "00006" "2026-03-20 14:35:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476364" "00474682" "1" "00006" "00006" "2026-03-20 14:51:24" "00006" "2026-03-20 14:53:33" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000467250" "MBTPS1" "0000476349" "MBTPS1" "0000476354" "MBTPS1" "0000476359" "MBTPS1" ## 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 = 35 "{{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}}" "0000291582" "0" "10" "16" "84089622" "84089622" "subst" "0.00650591" "01943" "MBTPS1_000002" "g.84089622C>T" "" "" "" "MBTPS1(NM_003791.2):c.2950G>A (p.(Asp984Asn)), MBTPS1(NM_003791.3):c.2950G>A (p.D984N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84056017C>T" "" "benign" "" "0000854663" "0" "30" "16" "84094363" "84094363" "subst" "0.000140554" "01943" "MBTPS1_000003" "g.84094363C>T" "" "" "" "MBTPS1(NM_003791.3):c.2628G>A (p.P876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864954" "0" "30" "16" "84118660" "84118660" "subst" "1.62444E-5" "01943" "MBTPS1_000004" "g.84118660C>G" "" "" "" "MBTPS1(NM_003791.3):c.1214G>C (p.G405A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950742" "0" "30" "16" "84089622" "84089622" "subst" "0.00650591" "01804" "MBTPS1_000002" "g.84089622C>T" "" "" "" "MBTPS1(NM_003791.2):c.2950G>A (p.(Asp984Asn)), MBTPS1(NM_003791.3):c.2950G>A (p.D984N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950743" "0" "30" "16" "84089631" "84089631" "subst" "0.00454198" "01804" "MBTPS1_000005" "g.84089631C>T" "" "" "" "MBTPS1(NM_003791.2):c.2941G>A (p.(Gly981Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950744" "0" "50" "16" "84115500" "84115500" "subst" "0" "01804" "MBTPS1_000006" "g.84115500G>A" "" "" "" "MBTPS1(NM_003791.2):c.1300C>T (p.(Arg434Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968542" "0" "50" "16" "84100171" "84100171" "subst" "1.2185E-5" "02329" "MBTPS1_000007" "g.84100171T>C" "" "" "" "MBTPS1(NM_003791.4):c.2276A>G (p.N759S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041387" "0" "50" "16" "84088184" "84088184" "subst" "0" "01804" "MBTPS1_000008" "g.84088184G>T" "" "" "" "MBTPS1(NM_003791.4):c.3029C>A (p.(Ala1010Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041388" "0" "50" "16" "84104296" "84104296" "subst" "5.27953E-5" "01804" "MBTPS1_000009" "g.84104296C>T" "" "" "" "MBTPS1(NM_003791.4):c.1679G>A (p.(Gly560Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041389" "0" "30" "16" "84120955" "84120955" "subst" "0" "01804" "MBTPS1_000010" "g.84120955G>C" "" "" "" "MBTPS1(NM_003791.4):c.1134+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041390" "0" "30" "16" "84127307" "84127309" "delins" "0" "01804" "MBTPS1_000011" "g.84127307_84127309delinsAAA" "" "" "" "MBTPS1(NM_003791.4):c.736+7_736+9delinsTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041391" "0" "50" "16" "84135260" "84135260" "subst" "3.65824E-5" "01804" "MBTPS1_000012" "g.84135260C>G" "" "" "" "MBTPS1(NM_003791.4):c.129G>C (p.(Leu43Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045042" "11" "90" "16" "84100091" "84100091" "subst" "4.07053E-6" "04852" "MBTPS1_000013" "g.84100091T>C" "" "{PMID:Lucas-Castro 2026:41024587}, {DOI:Lucas-Castro 2026:10.1111/cge.70084}" "" "" "Splicing assays of the variant, both from RNA from the father\'s blood and with a minigene assay confirmed aberrant splicing leading to skipping of MBTPS1 exon 17, resulting in a frameshift" "Germline" "" "" "0" "" "" "g.84066486T>C" "" "pathogenic (recessive)" "ACMG" "0001045043" "21" "90" "16" "84031722" "84193956" "del" "0" "04852" "MBTPS1_000014" "g.(?_84031722)_(84193956_?)del" "" "{PMID:Lucas-Castro 2026:41024587}, {DOI:Lucas-Castro 2026:10.1111/cge.70084}" "" "84031722_84193956del" "" "Germline" "" "" "0" "" "" "g.(?_83998117)_(84160351_?)del" "" "pathogenic (recessive)" "ACMG" "0001055687" "0" "50" "16" "84096960" "84096960" "subst" "4.06085E-6" "01804" "MBTPS1_000015" "g.84096960A>G" "" "" "" "MBTPS1(NM_003791.4):c.2522T>C (p.(Ile841Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055688" "0" "50" "16" "84118584" "84118584" "subst" "0" "01804" "MBTPS1_000016" "g.84118584T>G" "" "" "" "MBTPS1(NM_003791.4):c.1286+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055689" "0" "30" "16" "84121068" "84121068" "subst" "0" "01804" "MBTPS1_000017" "g.84121068A>G" "" "" "" "MBTPS1(NM_003791.4):c.1032-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055690" "0" "50" "16" "84125368" "84125368" "subst" "0" "01804" "MBTPS1_000018" "g.84125368G>A" "" "" "" "MBTPS1(NM_003791.4):c.932C>T (p.(Pro311Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055691" "0" "50" "16" "84129263" "84129263" "subst" "5.2803E-5" "01804" "MBTPS1_000019" "g.84129263G>A" "" "" "" "MBTPS1(NM_003791.4):c.569C>T (p.(Pro190Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001071133" "11" "90" "16" "84132794" "84132794" "dup" "0" "00006" "MBTPS1_000020" "g.84132794dup" "" "{PMID:Kondo 2018:30046013}" "" "285dupT" "" "Germline" "" "" "0" "" "" "g.84099189dup" "" "pathogenic (recessive)" "" "0001071135" "21" "90" "16" "84121003" "84121003" "subst" "4.06223E-6" "00006" "MBTPS1_000001" "g.84121003T>C" "" "{PMID:Kondo 2018:30046013}" "" "" "variant created splice donor site" "Germline" "" "" "0" "" "" "g.84087398T>C" "" "pathogenic (recessive)" "" "0001071136" "3" "90" "16" "84121003" "84121003" "subst" "4.06223E-6" "00006" "MBTPS1_000001" "g.84121003T>C" "" "{PMID:Meyer 2020:32857899}" "" "" "" "Germline" "" "rs1226321681" "0" "" "" "g.84087398T>C" "RCV000767393.1" "pathogenic (recessive)" "" "0001071139" "3" "90" "16" "84089624" "84089624" "subst" "0" "00006" "MBTPS1_000021" "g.84089624C>T" "" "{PMID:Carvalho 2020:32420688}" "" "" "" "Germline" "" "" "0" "" "" "g.84056019C>T" "" "pathogenic (recessive)" "" "0001071140" "3" "70" "16" "84094357" "84094357" "subst" "0" "00006" "MBTPS1_000022" "g.84094357G>T" "" "{PMID:Alotaibi 2022:36330313}" "" "" "" "Germline" "" "" "0" "" "" "g.84060752G>T" "" "VUS" "" "0001071141" "11" "90" "16" "84094335" "84094335" "subst" "0" "00006" "MBTPS1_000023" "g.84094335G>A" "" "{PMID:Yuan 2023:36714646}" "" "" "ACMG PVS1,  PM2" "Germline" "" "" "0" "" "" "g.84060730G>A" "" "likely pathogenic (recessive)" "ACMG" "0001071142" "21" "90" "16" "84126865" "84126865" "subst" "0" "00006" "MBTPS1_000024" "g.84126865G>A" "" "{PMID:Yuan 2023:36714646}" "" "" "variant predicted to affect ESE site; effect confirmed by mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.84093260G>A" "" "likely pathogenic (recessive)" "" "0001071145" "11" "70" "16" "84108206" "84108206" "subst" "0" "00006" "MBTPS1_000025" "g.84108206T>C" "" "{PMID:Chen 2023:36816387}" "" "" "" "Germline" "" "" "0" "" "" "g.84074601T>C" "" "VUS" "" "0001071146" "21" "70" "16" "84135226" "84135226" "subst" "0" "00006" "MBTPS1_000026" "g.84135226C>T" "" "{PMID:Chen 2023:36816387}" "" "" "" "Germline" "" "" "0" "" "" "g.84101621C>T" "" "VUS" "" "0001071147" "11" "70" "16" "84121033" "84121033" "subst" "0" "00006" "MBTPS1_000027" "g.84121033A>C" "" "{PMID:Chen 2022:35362222}" "" "" "" "Germline" "" "" "0" "" "" "g.84087428A>C" "" "likely pathogenic (recessive)" "" "0001071149" "21" "70" "16" "84088056" "84088056" "subst" "0" "00006" "MBTPS1_000028" "g.84088056A>G" "" "{PMID:Chen 2022:35362222}" "" "(Ter1053Arg)" "" "Germline" "" "" "0" "" "" "g.84054451A>G" "" "likely pathogenic (recessive)" "" "0001071152" "11" "90" "16" "84088054" "84088054" "subst" "0" "00006" "MBTPS1_000029" "g.84088054T>A" "" "{PMID:Chen 2022:35362222}" "" "(Ter1053Cys)" "" "Germline" "" "" "0" "" "" "g.84054449T>A" "" "likely pathogenic (recessive)" "" "0001071153" "21" "90" "16" "84101430" "84101430" "subst" "0" "00006" "MBTPS1_000030" "g.84101430T>A" "" "{PMID:Chen 2022:35362222}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.84067825T>A" "" "likely pathogenic (recessive)" "" "0001071156" "11" "90" "16" "84099371" "84099371" "del" "0" "00006" "MBTPS1_000031" "g.84099371del" "" "{PMID:Raggio 2024:38337829}" "" "2355delG" "" "Germline" "" "" "0" "" "" "g.84065766del" "" "pathogenic (recessive)" "" "0001071158" "21" "70" "16" "84121003" "84121003" "subst" "4.06223E-6" "00006" "MBTPS1_000001" "g.84121003T>C" "" "{PMID:Raggio 2024:38337829}" "" "A1094G" "" "Germline" "" "" "0" "" "" "g.84087398T>C" "" "likely pathogenic (recessive)" "" "0001071162" "0" "70" "16" "84088206" "84088206" "subst" "0" "00006" "MBTPS1_000032" "g.84088206G>A" "" "{PMID:Schweitzer 2019:31070020}" "" "" "variant reported as associated to the phenotype" "De novo" "" "" "0" "" "" "g.84054601G>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 MBTPS1 ## Count = 35 "{{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}}" "0000291582" "00011883" "10" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Asp984Asn)" "" "0000854663" "00011883" "30" "2628" "0" "2628" "0" "c.2628G>A" "r.(?)" "p.(Pro876=)" "" "0000864954" "00011883" "30" "1214" "0" "1214" "0" "c.1214G>C" "r.(?)" "p.(Gly405Ala)" "" "0000950742" "00011883" "30" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Asp984Asn)" "" "0000950743" "00011883" "30" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Gly981Ser)" "" "0000950744" "00011883" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Arg434Cys)" "" "0000968542" "00011883" "50" "2276" "0" "2276" "0" "c.2276A>G" "r.(?)" "p.(Asn759Ser)" "" "0001041387" "00011883" "50" "3029" "0" "3029" "0" "c.3029C>A" "r.(?)" "p.(Ala1010Asp)" "" "0001041388" "00011883" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Gly560Asp)" "" "0001041389" "00011883" "30" "1134" "8" "1134" "8" "c.1134+8C>G" "r.(=)" "p.(=)" "" "0001041390" "00011883" "30" "736" "7" "736" "9" "c.736+7_736+9delinsTTT" "r.(=)" "p.(=)" "" "0001041391" "00011883" "50" "129" "0" "129" "0" "c.129G>C" "r.(?)" "p.(Leu43Phe)" "" "0001045042" "00011883" "90" "2353" "3" "2353" "3" "c.2353+3A>G" "r.2229_2353del" "p.Arg743SerTer39" "17i" "0001045043" "00011883" "90" "-43941" "0" "59491" "0" "c.(?_-43941)_(*56332_?)del" "r.0" "p.0" "" "0001055687" "00011883" "50" "2522" "0" "2522" "0" "c.2522T>C" "r.(?)" "p.(Ile841Thr)" "" "0001055688" "00011883" "50" "1286" "4" "1286" "4" "c.1286+4A>C" "r.spl?" "p.?" "" "0001055689" "00011883" "30" "1032" "-3" "1032" "-3" "c.1032-3T>C" "r.spl?" "p.?" "" "0001055690" "00011883" "50" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Pro311Leu)" "" "0001055691" "00011883" "50" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Pro190Leu)" "" "0001071133" "00011883" "90" "285" "0" "285" "0" "c.285dup" "r.285dup" "p.Asp96Ter" "" "0001071135" "00011883" "90" "1094" "0" "1094" "0" "c.1094A>G" "r.1094_1134del" "p.Asp365GlyfsTer12" "9" "0001071136" "00011883" "90" "1094" "0" "1094" "0" "c.1094A>G" "r.(spl)" "p.(?)" "9" "0001071139" "00011883" "90" "2948" "0" "2948" "0" "c.2948G>A" "r.(?)" "p.(Trp983Ter)" "22" "0001071140" "00011883" "70" "2634" "0" "2634" "0" "c.2634C>A" "r.(?)" "p.(Ser878Arg)" "" "0001071141" "00011883" "90" "2656" "0" "2656" "0" "c.2656C>T" "r.(?)" "p.(Gln886Ter)" "" "0001071142" "00011883" "90" "774" "0" "774" "0" "c.774C>T" "r.737_846del" "p.Leu247IlefsTer37" "" "0001071145" "00011883" "70" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Asp530Gly)" "12" "0001071146" "00011883" "70" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Glu55Lys)" "2" "0001071147" "00011883" "70" "1064" "0" "1064" "0" "c.1064T>G" "r.(?)" "p.(Val355Gly)" "" "0001071149" "00011883" "70" "3157" "0" "3157" "0" "c.3157T>C" "r.(?)" "p.(Ter1053ArgextTer51)" "" "0001071152" "00011883" "90" "3159" "0" "3159" "0" "c.3159A>T" "r.(?)" "p.(Ter1053CysextTer51)" "" "0001071153" "00011883" "90" "2072" "-2" "2072" "-2" "c.2072-2A>T" "r.(2072_2228del)" "p.(Thr692SerfsTer15)" "15i" "0001071156" "00011883" "90" "2355" "0" "2355" "0" "c.2355del" "r.(?)" "p.(Met785Ilefs*18)" "" "0001071158" "00011883" "70" "1094" "0" "1094" "0" "c.1094A>G" "r.spl?" "p.(?)" "9" "0001071162" "00011883" "70" "3007" "0" "3007" "0" "c.3007C>T" "r.3007C>T" "p.Pro1003Ser" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000467250" "0001045042" "0000467250" "0001045043" "0000476349" "0001071133" "0000476349" "0001071135" "0000476350" "0001071136" "0000476352" "0001071139" "0000476353" "0001071140" "0000476354" "0001071141" "0000476354" "0001071142" "0000476356" "0001071145" "0000476356" "0001071146" "0000476358" "0001071147" "0000476358" "0001071149" "0000476359" "0001071152" "0000476359" "0001071153" "0000476361" "0001071156" "0000476361" "0001071158" "0000476364" "0001071162"