### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNPO2) # 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}}" "TNPO2" "transportin 2" "19" "p13.13" "unknown" "NC_000019.9" "UD_136081877437" "" "https://www.LOVD.nl/TNPO2" "" "1" "19998" "30000" "603002" "1" "1" "1" "1" "Preferred MANE transcript NM_001382241.1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TNPO2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-08-16 12:18:00" "00000" "2025-11-01 13:22:20" ## 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}}" "00025864" "TNPO2" "transcript variant 9" "000" "NM_001382241.1" "" "NP_001369170.1" "" "" "" "-294" "4757" "2694" "12834746" "12810015" "00006" "2023-10-23 16:46:58" "" "" ## 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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07036" "IDDHISD" "intellectual developmental disorder with hypotonia, impaired speech, dysmorphic facies" "AD" "619556" "" "" "" "00006" "2023-10-23 16:49:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TNPO2" "05611" "TNPO2" "07036" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00183058" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio43" "00380396" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "United States" "" "0" "" "" "" "Pat1" "00380397" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "United States" "" "0" "" "" "" "Pat2" "00380398" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "" "" "0" "" "" "" "Pat3" "00380399" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Belgium" "" "0" "" "" "" "Pat4" "00380400" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Australia" "" "0" "" "" "" "Pat5" "00380401" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat6" "00380402" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "United States" "" "0" "" "" "" "Pat7" "00380403" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat8" "00380404" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "France" "" "0" "" "" "" "Pat9" "00380405" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "United States" "" "0" "" "" "" "Pat10" "00380406" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat11" "00380407" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00380408" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "United States" "" "0" "" "" "" "Pat13" "00380409" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "" "" "0" "" "" "" "Pat14" "00380410" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat15" "00436147" "" "" "" "1" "" "01164" "" "" "M" "?" "Somalia" "" "0" "" "" "" "263978" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00183058" "00139" "00380396" "05611" "00380397" "05611" "00380398" "05611" "00380399" "05611" "00380400" "05611" "00380401" "05611" "00380402" "05611" "00380403" "05611" "00380404" "05611" "00380405" "05611" "00380406" "05611" "00380407" "05611" "00380408" "05611" "00380409" "05611" "00380410" "05611" "00436147" "00139" "00436147" "07036" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 07036 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143811" "00139" "00183058" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "0000274246" "05611" "00380396" "00006" "Isolated (sporadic)" "6y" "global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; hypotonia muscle; movement/neurological disorder; febrile seizures; microcephaly; no MRI brain abnormalities" "1m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274247" "05611" "00380397" "00006" "Isolated (sporadic)" "18m" "global developmental delays, regression; speech impaired; motor impaired; no dysmorphic features; behavioral deficits; GI/feeding abnormalities; no ophthalmologic abnormalities; no muscle tone abnormalities; no movement/neurological disorder; no seizures; no microcephaly" "4m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274248" "05611" "00380398" "00006" "Isolated (sporadic)" "6m" "global developmental delays; speech impaired; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; no ophthalmologic abnormalities; hypotonia muscle; no movement/neurological disorder; no seizures; no microcephaly; MRI brain abnormalities" "1d" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274249" "05611" "00380399" "00006" "Isolated (sporadic)" "3y" "global developmental delays, regression; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; no GI/feeding abnormalities; ophthalmologic abnormalities; no muscle tone abnormalities; no movement/neurological disorder; no seizures; microcephaly; no MRI brain abnormalities" "13m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274250" "05611" "00380400" "00006" "Isolated (sporadic)" "23m" "global developmental delays; speech impaired; motor impaired; no dysmorphic features; no behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; hypotonia muscle; movement/neurological disorder; no seizures; microcephaly; MRI brain abnormalities" "3m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274251" "05611" "00380401" "00006" "Isolated (sporadic)" "4y" "global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; no GI/feeding abnormalities; ophthalmologic abnormalities; variable hypotonia muscle; movement/neurological disorder; febrile to non-febrile seizures; microcephaly; MRI brain abnormalities" "6m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274252" "05611" "00380402" "00006" "Isolated (sporadic)" "10y" "global developmental delays; speech impaired; intellectual disability; motor impaired; no dysmorphic features; no behavioral deficits; GI/feeding abnormalities; no ophthalmologic abnormalities; hypotonia muscle; no movement/neurological disorder; febrile to non-febrile seizures; no microcephaly; no MRI brain abnormalities" "4m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274253" "05611" "00380403" "00006" "Isolated (sporadic)" "8y" "global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; no muscle tone abnormalities; no movement/neurological disorder; no seizures; no microcephaly; MRI brain abnormalities" "1d" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274254" "05611" "00380404" "00006" "Isolated (sporadic)" "14m" "global developmental delays; speech impaired; motor impaired; dysmorphic features; no behavioral deficits; no GI/feeding abnormalities; ophthalmologic abnormalities; hypotonia muscle; no movement/neurological disorder; no seizures; microcephaly; MRI brain abnormalities" "<0d" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274255" "05611" "00380405" "00006" "Isolated (sporadic)" "5y" "global developmental delays; speech impaired; motor impaired; dysmorphic features; no behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; variable hypotonia muscle; no movement/neurological disorder; febrile to non-febrile seizures; no microcephaly; MRI brain abnormalities" "9m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274256" "05611" "00380406" "00006" "Isolated (sporadic)" "9y" "global developmental delays; speech impaired; intellectual disability; motor impaired; no dysmorphic features; behavioral deficits; no GI/feeding abnormalities; ophthalmologic abnormalities; no muscle tone abnormalities; movement/neurological disorder; febrile to non-febrile seizures; no microcephaly; no MRI brain abnormalities" "8m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274257" "05611" "00380407" "00006" "Isolated (sporadic)" "20y" "global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; GI/feeding abnormalities; no ophthalmologic abnormalities; hypotonia muscle; movement/neurological disorder; seizures; no microcephaly; MRI brain abnormalities" "1d" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274258" "05611" "00380408" "00006" "Isolated (sporadic)" "11y" "global developmental delays, regression; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; hypotonia muscle; movement/neurological disorder; no seizures; no microcephaly; no MRI brain abnormalities" "15m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274259" "05611" "00380409" "00006" "Isolated (sporadic)" "12y" "global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; no ophthalmologic abnormalities; hypotonia muscle; no movement/neurological disorder; no seizures; no microcephaly" "18m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000274260" "05611" "00380410" "00006" "Isolated (sporadic)" "7y" "global developmental delays; speech impaired; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; hypertonia muscle; no movement/neurological disorder; no seizures; no microcephaly; no MRI brain abnormalities" "1d" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326330" "00139" "00436147" "01164" "Isolated (sporadic)" "04y" "Macrocephaly, Delayed speech and language development, Hypotonia, Neurodevelopmental delay" "" "" "" "" "" "" "" "IDDHISD" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184018" "00183058" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381610" "00380396" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381611" "00380397" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381612" "00380398" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381613" "00380399" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381614" "00380400" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381615" "00380401" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381616" "00380402" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381617" "00380403" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381618" "00380404" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381619" "00380405" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381620" "00380406" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381621" "00380407" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381622" "00380408" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381623" "00380409" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381624" "00380410" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437630" "00436147" "1" "01164" "01164" "2023-08-23 12:41:14" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000437630" "TNPO2" ## 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}}" "0000407987" "0" "70" "19" "12822117" "12822117" "subst" "0" "00006" "TNPO2_000002" "g.12822117C>G" "" "{PMID:de Ligt 2012:23033978}" "" "NM_001136196.1:c.1110G>C (Trp370Cys)" "candidate variant" "De novo" "" "" "0" "" "" "g.12711303C>G" "" "likely pathogenic" "" "0000795094" "0" "90" "19" "12831709" "12831709" "subst" "0" "00006" "TNPO2_000007" "g.12831709T>C" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Gln28Arg" "" "De novo" "" "" "0" "" "" "g.12720895T>C" "" "pathogenic (dominant)" "" "0000795095" "0" "90" "19" "12831697" "12831697" "subst" "0" "00006" "TNPO2_000008" "g.12831697T>C" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Gln32Arg" "" "De novo" "" "" "0" "" "" "g.12720883T>C" "" "pathogenic (dominant)" "" "0000795096" "0" "90" "19" "12829986" "12829986" "subst" "0" "00006" "TNPO2_000009" "g.12829986G>C" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Pro61Arg" "" "De novo" "" "" "0" "" "" "g.12719172G>C" "" "pathogenic (dominant)" "" "0000795097" "0" "90" "19" "12826525" "12826525" "subst" "0" "00006" "TNPO2_000010" "g.12826525C>G" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Lys118Asn" "" "De novo" "" "" "0" "" "" "g.12715711C>G" "" "pathogenic (dominant)" "" "0000795098" "0" "90" "19" "12826331" "12826333" "del" "0" "00006" "TNPO2_000011" "g.12826331_12826333del" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "455_457delAGA" "variant mosaic (SEQ 0.16/WGS 0.21 reads)" "Somatic" "" "" "0" "" "" "g.12715517_12715519del" "" "pathogenic (dominant)" "" "0000795099" "0" "90" "19" "12826319" "12826319" "subst" "0" "00006" "TNPO2_000012" "g.12826319C>T" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Asp156Asn" "" "De novo" "" "" "0" "" "" "g.12715505C>T" "" "pathogenic (dominant)" "" "0000795100" "0" "90" "19" "12822119" "12822119" "subst" "0" "00006" "TNPO2_000013" "g.12822119A>G" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Trp370Arg" "" "De novo" "" "" "0" "" "" "g.12711305A>G" "" "pathogenic (dominant)" "" "0000795101" "0" "90" "19" "12822117" "12822117" "subst" "0" "00006" "TNPO2_000014" "g.12822117C>G" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Trp370Cys" "" "De novo" "" "" "0" "" "" "g.12711303C>G" "" "pathogenic (dominant)" "" "0000795102" "0" "90" "19" "12817406" "12817409" "delins" "0" "00006" "TNPO2_000015" "g.12817406_12817409delinsATTG" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Lys491_Arg492delinsGlnTrp" "" "De novo" "" "" "0" "" "" "g.12706592_12706595delinsATTG" "" "pathogenic (dominant)" "" "0000795103" "0" "90" "19" "12817137" "12817137" "subst" "0" "00006" "TNPO2_000016" "g.12817137G>A" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Pro514Leu" "" "De novo" "" "" "0" "" "" "g.12706323G>A" "" "pathogenic (dominant)" "" "0000795104" "0" "90" "19" "12817041" "12817041" "subst" "0" "00006" "TNPO2_000017" "g.12817041G>A" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Ala546Val" "" "De novo" "" "" "0" "" "" "g.12706227G>A" "" "pathogenic (dominant)" "" "0000795105" "0" "90" "19" "12817035" "12817035" "subst" "0" "00006" "TNPO2_000018" "g.12817035G>A" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Ser548Phe" "" "De novo" "" "" "0" "" "" "g.12706221G>A" "" "pathogenic (dominant)" "" "0000795106" "0" "90" "19" "12816375" "12816375" "subst" "0" "00006" "TNPO2_000019" "g.12816375G>T" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Phe598Leu" "mother mosaic (1%)" "De novo" "" "" "0" "" "" "g.12705561G>T" "" "pathogenic (dominant)" "" "0000795107" "0" "90" "19" "12816126" "12816137" "del" "0" "00006" "TNPO2_000020" "g.(12816126_12816137del)" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Ala649_Leu652del" "" "De novo" "" "" "0" "" "" "g.(12705312_12705323del)" "" "pathogenic (dominant)" "" "0000795108" "0" "90" "19" "12814270" "12814270" "subst" "0" "00006" "TNPO2_000021" "g.12814270C>A" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "Trp727Cys" "" "De novo" "" "" "0" "" "" "g.12703456C>A" "" "pathogenic (dominant)" "" "0000855441" "0" "50" "19" "12817041" "12817041" "subst" "0" "02327" "TNPO2_000017" "g.12817041G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12706227G>A" "" "VUS" "" "0000932958" "0" "50" "19" "12812432" "12812432" "subst" "0" "01164" "TNPO2_000023" "g.12812432G>A" "" "" "" "" "ACMG: PS2_MOD, PM2_SUP, PP2, PP3; confirmed de novo in trio exome" "De novo" "-" "" "0" "" "" "g.12701618G>A" "" "VUS (!)" "ACMG" "0000983206" "0" "50" "19" "12814584" "12814584" "subst" "0" "01804" "TNPO2_000024" "g.12814584A>G" "" "" "" "TNPO2(NM_001382241.1):c.2054T>C (p.(Phe685Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983207" "0" "30" "19" "12816217" "12816217" "subst" "0" "01804" "TNPO2_000025" "g.12816217A>G" "" "" "" "TNPO2(NM_001382241.1):c.1864-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983208" "0" "30" "19" "12821427" "12821427" "subst" "2.88026E-5" "01804" "TNPO2_000026" "g.12821427G>A" "" "" "" "TNPO2(NM_001382241.1):c.1270+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004359" "0" "50" "19" "12812909" "12812909" "subst" "0" "02329" "TNPO2_000027" "g.12812909C>G" "" "" "" "TNPO2(NM_001382241.1):c.2388G>C (p.M796I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004360" "0" "50" "19" "12812950" "12812950" "subst" "4.07498E-6" "01804" "TNPO2_000028" "g.12812950C>T" "" "" "" "TNPO2(NM_001136195.1):c.2317G>A (p.(Gly773Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027175" "0" "30" "19" "12821501" "12821501" "subst" "0" "02327" "TNPO2_000029" "g.12821501G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042619" "0" "50" "19" "12816308" "12816308" "subst" "0" "01804" "TNPO2_000030" "g.12816308T>G" "" "" "" "TNPO2(NM_001382241.1):c.1861A>C (p.(Met621Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056500" "0" "30" "19" "12812177" "12812177" "subst" "2.85491E-5" "01804" "FBXW9_000003" "g.12812177C>T" "" "" "" "TNPO2(NM_001382241.1):c.2677G>A (p.(Ala893Thr))" "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 TNPO2 ## 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}}" "0000407987" "00025864" "00" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.(Trp370Cys)" "" "0000795094" "00025864" "90" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(Gln28Arg)" "" "0000795095" "00025864" "90" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Gln32Arg)" "" "0000795096" "00025864" "90" "182" "0" "182" "0" "c.182C>G" "r.(?)" "p.(Pro61Arg)" "" "0000795097" "00025864" "90" "354" "0" "354" "0" "c.354G>C" "r.(?)" "p.(Lys118Asn)" "" "0000795098" "00025864" "90" "455" "0" "457" "0" "c.455_457del" "r.(?)" "p.(Lys152del)" "" "0000795099" "00025864" "90" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Asp156Asn)" "" "0000795100" "00025864" "90" "1108" "0" "1108" "0" "c.1108T>C" "r.(?)" "p.(Trp370Arg)" "" "0000795101" "00025864" "90" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.(Trp370Cys)" "" "0000795102" "00025864" "90" "1471" "0" "1474" "0" "c.1471_1474delinsCAAT" "r.(?)" "p.(Lys491_Arg492delinsGlnTrp)" "" "0000795103" "00025864" "90" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Pro514Leu)" "" "0000795104" "00025864" "90" "1637" "0" "1637" "0" "c.1637C>T" "r.(?)" "p.(Ala546Val)" "" "0000795105" "00025864" "90" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Ser548Phe)" "" "0000795106" "00025864" "90" "1794" "0" "1794" "0" "c.1794C>A" "r.(?)" "p.(Phe598Leu)" "" "0000795107" "00025864" "90" "1946" "0" "1957" "0" "c.1946_1957del" "r.(?)" "p.(Ala649_Leu652del)" "" "0000795108" "00025864" "90" "2181" "0" "2181" "0" "c.2181G>T" "r.(?)" "p.(Trp727Cys)" "" "0000855441" "00025864" "50" "1637" "0" "1637" "0" "c.1637C>T" "r.(?)" "p.(Ala546Val)" "" "0000932958" "00025864" "50" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Leu856Phe)" "" "0000983206" "00025864" "50" "2054" "0" "2054" "0" "c.2054T>C" "r.(?)" "p.(Phe685Ser)" "" "0000983207" "00025864" "30" "1864" "-5" "1864" "-5" "c.1864-5T>C" "r.spl?" "p.?" "" "0000983208" "00025864" "30" "1270" "8" "1270" "8" "c.1270+8C>T" "r.(=)" "p.(=)" "" "0001004359" "00025864" "50" "2388" "0" "2388" "0" "c.2388G>C" "r.(?)" "p.(Met796Ile)" "" "0001004360" "00025864" "50" "2347" "0" "2347" "0" "c.2347G>A" "r.(?)" "p.(Gly783Ser)" "" "0001027175" "00025864" "30" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Leu402Phe)" "" "0001042619" "00025864" "50" "1861" "0" "1861" "0" "c.1861A>C" "r.(?)" "p.(Met621Leu)" "" "0001056500" "00025864" "30" "2677" "0" "2677" "0" "c.2677G>A" "r.(?)" "p.(Ala893Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000184018" "0000407987" "0000381610" "0000795094" "0000381611" "0000795095" "0000381612" "0000795096" "0000381613" "0000795097" "0000381614" "0000795098" "0000381615" "0000795099" "0000381616" "0000795100" "0000381617" "0000795101" "0000381618" "0000795102" "0000381619" "0000795103" "0000381620" "0000795104" "0000381621" "0000795105" "0000381622" "0000795106" "0000381623" "0000795107" "0000381624" "0000795108" "0000437630" "0000932958"