### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = THUMPD1) # 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}}" "THUMPD1" "THUMP domain containing 1" "16" "p13.11" "unknown" "NC_000016.9" "UD_132378500253" "" "https://www.LOVD.nl/THUMPD1" "" "1" "23807" "55623" "616662" "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/THUMPD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-24 11:39:43" "00006" "2022-11-28 11:02:23" ## 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}}" "00021111" "THUMPD1" "THUMP domain containing 1" "001" "NM_017736.3" "" "NP_060206.2" "" "" "" "-138" "4278" "1062" "20753199" "20744986" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "THUMPD1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00301733" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "" "" "0" "" "" "" "15DG1395" "00407695" "" "" "" "2" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Fam1PatII1" "00407696" "" "" "00407695" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "brother" "M" "no" "" "" "0" "" "" "" "Fam1PatII2" "00407697" "" "" "" "2" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam2PatII1" "00407698" "" "" "00407697" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam2PatII2" "00407699" "" "" "" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam3PatII1" "00407700" "" "" "" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam4PatII1" "00407701" "" "" "" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam5PatII1" "00407702" "" "" "" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Fam6PatII1" "00407703" "" "" "" "3" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam7PatII1" "00407704" "" "" "00407703" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "sister" "F" "yes" "" "" "0" "" "" "" "Fam7PatII2" "00407705" "" "" "00407703" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam7PatII3" "00407706" "" "" "" "2" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam8PatII1" "00407707" "" "" "00407706" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "sister" "F" "yes" "" "" "0" "" "" "" "Fam8PatII3" "00407708" "" "" "" "3" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam9PatII1" "00407709" "" "" "00407708" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam9PatII2" "00407710" "" "" "00407708" "1" "" "00006" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam9PatII3" "00426197" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "10SS8000" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00301733" "00198" "00407695" "05611" "00407696" "05611" "00407697" "05611" "00407698" "05611" "00407699" "05611" "00407700" "05611" "00407701" "05611" "00407702" "05611" "00407703" "05611" "00407704" "05611" "00407705" "05611" "00407706" "05611" "00407707" "05611" "00407708" "05611" "00407709" "05611" "00407710" "05611" "00426197" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611 ## Count = 18 "{{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}}" "0000228831" "00198" "00301733" "00006" "Familial, autosomal recessive" "23y" "intellectual disability, dysmorphic features, hypertension and diabetes. He was delivered at term via SVD. Antenatal history was significant for polyhydramnios. Parents are first degree cousins with a similarly affected child. His physical examination showed relatively large skull, sparse hair, right eye exotropic strabismus, up-slanting of palpable fissures, as well as prognathism with mild limitation of jaw opening, hands with tapering fingers, generalized thickening of skin with scattered trunk ale acne. Ophthalmology examination showed right large angle esotropia with hypertropia, and restricted eye movements in all directions except medially. Neurologically he is oriented but with low tone voice and slow response, increased muscle tone of cogwheel type, and slow initiation of gait." "" "" "" "" "" "" "" "" "" "" "" "0000299842" "05611" "00407695" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 17m-walk; intellectual disability; no short stature; ophtalmological abnormality; no congenital heart defect; hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299843" "05611" "00407696" "00006" "Familial, autosomal recessive" "7y6m" "see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 2y-first words; 16m-walk; intellectual disability; febrile seizures; no short stature; ophtalmological abnormality; no congenital heart defect; hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299844" "05611" "00407697" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 24m-walk; intellectual disability; behavior abnormality; no febrile seizures; no short stature; ophtalmological abnormality" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299845" "05611" "00407698" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., developmental delay; speech delayed sentences; intellectual disability; behavior abnormality; no febrile seizures; ophtalmological abnormality; Rahman syndrome" "" "" "" "" "" "" "" "" "..;Rahman syndrome" "neurodevelopmental delay" "" "0000299846" "05611" "00407699" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., developmental delay; microcephaly; speech delayed sentences; 1y-first words; 18m-walk; intellectual disability; behavior abnormality; febrile seizures; MRI brain normal; short stature; ophtalmological abnormality" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299847" "05611" "00407700" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., developmental delay; microcephaly; MRI brain abnormal; ophtalmological abnormality; congenital heart defect" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299848" "05611" "00407701" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., developmental delay; no microcephaly; speech delayed sentences; no speech; 36m-walk; intellectual disability; behavior abnormality; no febrile seizures; MRI brain normal; no short stature; ophtalmological abnormality" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299849" "05611" "00407702" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 2y-first words; 18m-walk; intellectual disability; behavior abnormality; no febrile seizures; MRI brain normal; no short stature; ophtalmological abnormality; hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299850" "05611" "00407703" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., developmental delay; microcephaly; speech delayed sentences; 2y-first words; 36m-walk; intellectual disability; behavior abnormality; febrile seizures; MRI brain normal; short stature; ophtalmological abnormality; no hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299851" "05611" "00407704" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., developmental delay; no microcephaly; intellectual disability; behavior abnormality; febrile seizures; no short stature; ophtalmological abnormality; hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299852" "05611" "00407705" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., intellectual disability; febrile seizures; ophtalmological abnormality; no hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299853" "05611" "00407706" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., developmental delay; microcephaly; speech delayed sentences; 19m-walk; intellectual disability; no behavior abnormality; no febrile seizures; MRI brain abnormal; short stature; ophtalmological abnormality; congenital heart defect; hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299854" "05611" "00407707" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., developmental delay; speech delayed sentences; 2y6m-first words; 15m-walk; intellectual disability; no behavior abnormality; febrile seizures; MRI brain abnormal; no short stature; no ophtalmological abnormality; hearing impairment" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299855" "05611" "00407708" "00006" "Familial, autosomal recessive" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299856" "05611" "00407709" "00006" "Familial, autosomal recessive" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299857" "05611" "00407710" "00006" "Familial, autosomal recessive" "21y" "see paper; ..." "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000317347" "00139" "00426197" "00006" "Familial, autosomal recessive" "7y" "Moderate to severe intellectual deficiency, behavioral abnormalities, facial dysmorphism, and ophthalmological abnormalities" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302857" "00301733" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000408947" "00407695" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408948" "00407696" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408949" "00407697" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408950" "00407698" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408951" "00407699" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408952" "00407700" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408953" "00407701" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408954" "00407702" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408955" "00407703" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408956" "00407704" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408957" "00407705" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408958" "00407706" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408959" "00407707" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408960" "00407708" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408961" "00407709" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408962" "00407710" "1" "00006" "00006" "2022-04-07 21:57:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427517" "00426197" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000302857" "THUMPD1" ## 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 = 19 "{{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}}" "0000666214" "3" "70" "16" "20748558" "20748558" "subst" "2.04068E-5" "00006" "THUMPD1_000001" "g.20748558G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.20737236G>A" "" "likely pathogenic (recessive)" "ACMG" "0000845974" "3" "90" "16" "20749190" "20749190" "dup" "0" "00006" "THUMPD1_000004" "g.20749190dup" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737868dup" "" "pathogenic (recessive)" "ACMG" "0000845975" "3" "90" "16" "20749190" "20749190" "dup" "0" "00006" "THUMPD1_000004" "g.20749190dup" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737868dup" "" "pathogenic (recessive)" "ACMG" "0000845976" "3" "90" "16" "20748558" "20748558" "subst" "2.04068E-5" "00006" "THUMPD1_000001" "g.20748558G>A" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737236G>A" "" "pathogenic (recessive)" "ACMG" "0000845977" "3" "90" "16" "20748558" "20748558" "subst" "2.04068E-5" "00006" "THUMPD1_000001" "g.20748558G>A" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "carries variant in HISTH1E causing Rahman syndrome (not specified)" "Germline" "" "" "0" "" "" "g.20737236G>A" "" "pathogenic (recessive)" "ACMG" "0000845978" "3" "90" "16" "20748558" "20748558" "subst" "2.04068E-5" "00006" "THUMPD1_000001" "g.20748558G>A" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737236G>A" "" "pathogenic (recessive)" "ACMG" "0000845979" "3" "90" "16" "20750284" "20750284" "subst" "8.1213E-6" "00006" "THUMPD1_000007" "g.20750284A>C" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20738962A>C" "" "pathogenic (recessive)" "ACMG" "0000845980" "3" "90" "16" "20750324" "20750327" "del" "0" "00006" "THUMPD1_000008" "g.20750324_20750327del" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20739002_20739005del" "" "pathogenic (recessive)" "ACMG" "0000845981" "11" "90" "16" "20749216" "20749216" "subst" "0" "00006" "THUMPD1_000006" "g.20749216G>A" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737894G>A" "" "pathogenic (recessive)" "ACMG" "0000845982" "3" "90" "16" "20748492" "20748494" "del" "0" "00006" "THUMPD1_000002" "g.20748492_20748494del" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737170_20737172del" "" "pathogenic (recessive)" "ACMG" "0000845983" "3" "90" "16" "20748492" "20748494" "del" "0" "00006" "THUMPD1_000002" "g.20748492_20748494del" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737170_20737172del" "" "pathogenic (recessive)" "ACMG" "0000845984" "3" "90" "16" "20748492" "20748494" "del" "0" "00006" "THUMPD1_000002" "g.20748492_20748494del" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737170_20737172del" "" "pathogenic (recessive)" "ACMG" "0000845985" "3" "90" "16" "20749051" "20749051" "dup" "0" "00006" "THUMPD1_000003" "g.20749051dup" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737729dup" "" "pathogenic (recessive)" "ACMG" "0000845986" "3" "90" "16" "20749051" "20749051" "dup" "0" "00006" "THUMPD1_000003" "g.20749051dup" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737729dup" "" "pathogenic (recessive)" "ACMG" "0000845987" "3" "50" "16" "20752929" "20752929" "subst" "1.12276E-5" "00006" "THUMPD1_000009" "g.20752929C>T" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20741607C>T" "" "VUS" "ACMG" "0000845988" "3" "50" "16" "20752929" "20752929" "subst" "1.12276E-5" "00006" "THUMPD1_000009" "g.20752929C>T" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20741607C>T" "" "VUS" "ACMG" "0000845989" "3" "50" "16" "20752929" "20752929" "subst" "1.12276E-5" "00006" "THUMPD1_000009" "g.20752929C>T" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20741607C>T" "" "VUS" "ACMG" "0000845990" "21" "90" "16" "20749195" "20749195" "subst" "0" "00006" "THUMPD1_000005" "g.20749195G>A" "" "{PMID:Broly 2022:35196516}, {DOI:Broly 2022:10.1016/j.ajhg.2022.02.001}" "" "" "" "Germline" "" "" "0" "" "" "g.20737873G>A" "" "pathogenic (recessive)" "ACMG" "0000904877" "3" "70" "16" "20748492" "20748494" "del" "0" "00006" "THUMPD1_000002" "g.20748492_20748494del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "rs772419789" "0" "" "" "g.20737170_20737172del" "" "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 THUMPD1 ## Count = 19 "{{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}}" "0000666214" "00021111" "70" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "" "0000845974" "00021111" "90" "495" "0" "495" "0" "c.495dup" "r.(?)" "p.(Ser166LeufsTer24)" "" "0000845975" "00021111" "90" "495" "0" "495" "0" "c.495dup" "r.(?)" "p.(Ser166LeufsTer24)" "" "0000845976" "00021111" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236Ter)" "" "0000845977" "00021111" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236Ter)" "" "0000845978" "00021111" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236Ter)" "" "0000845979" "00021111" "90" "341" "0" "341" "0" "c.341T>G" "r.(?)" "p.(Leu114Ter)" "" "0000845980" "00021111" "90" "303" "0" "306" "0" "c.303_306del" "r.(?)" "p.(Glu102LeufsTer10)" "" "0000845981" "00021111" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "" "0000845982" "00021111" "90" "774" "0" "776" "0" "c.774_776del" "r.(?)" "p.(Leu258del)" "" "0000845983" "00021111" "90" "774" "0" "776" "0" "c.774_776del" "r.(?)" "p.(Leu258del)" "" "0000845984" "00021111" "90" "774" "0" "776" "0" "c.774_776del" "r.(?)" "p.(Leu258del)" "" "0000845985" "00021111" "90" "634" "0" "634" "0" "c.634dup" "r.(?)" "p.(Glu212GlyfsTer18)" "" "0000845986" "00021111" "90" "634" "0" "634" "0" "c.634dup" "r.(?)" "p.(Glu212GlyfsTer18)" "" "0000845987" "00021111" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Ser)" "" "0000845988" "00021111" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Ser)" "" "0000845989" "00021111" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Ser)" "" "0000845990" "00021111" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Pro164Ser)" "" "0000904877" "00021111" "70" "774" "0" "776" "0" "c.774_776del" "r.(?)" "p.(Leu258del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000302857" "0000666214" "0000408947" "0000845974" "0000408948" "0000845975" "0000408949" "0000845976" "0000408950" "0000845977" "0000408951" "0000845978" "0000408952" "0000845979" "0000408953" "0000845980" "0000408954" "0000845981" "0000408954" "0000845990" "0000408955" "0000845982" "0000408956" "0000845983" "0000408957" "0000845984" "0000408958" "0000845985" "0000408959" "0000845986" "0000408960" "0000845987" "0000408961" "0000845988" "0000408962" "0000845989" "0000427517" "0000904877"