### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TSC2) # 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}}" "TSC2" "TSC complex subunit 2" "16" "p13.3" "unknown" "LRG_487" "UD_144538088401" "" "" "" "1" "12363" "7249" "191092" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-08 10:24:05" "" "" "00006" "2021-09-09 16:05:08" ## 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}}" "00000058" "TSC2" "transcript variant 1" "003" "NM_000548.4" "" "NP_000539.2" "" "" "" "-200" "5534" "5424" "2047895" "2088720" "00001" "2020-12-08 10:24:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00037" "TSC" "Tuberous sclerosis complex" "" "" "" "" "" "00001" "2020-12-08 10:20:52" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TSC2" "00037" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000236" "" "" "" "1" "" "00002" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "" "" "Malaysia" "" "" "M" "00000237" "" "" "" "1" "" "00002" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "" "" "Malaysia" "" "" "F" "00000743" "" "" "" "1" "" "00004" "{PMID:Nur Farrah Dila Ismail et al.(2014):24683199}" "" "" "Malaysia" "Malay" "" "M" "00000744" "" "" "" "1" "" "00004" "{PMID:Nur Farrah Dila Ismail et al.(2014):24683199}" "" "" "Malaysia" "Malay" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000236" "00037" "00000237" "00037" "00000743" "00037" "00000744" "00037" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00037 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000121" "00037" "00000236" "00002" "" "Familial, autosomal dominant" "0000000122" "00037" "00000237" "00002" "" "Familial, autosomal dominant" "0000000278" "00037" "00000743" "00004" "Hypopigmented over trunk and chest, has facial angiofibroma, forehead plaque, hypomelanotic macules, cortical tuber, subependymal nodule, multiple retinal nodular hamartomas and cardiac rhabdomyoma, has cerebral white matter radial ‘migration tracts’ and multiple renal cysts." "" "0000000279" "00037" "00000744" "00004" "Cortical tuber over the left frontal lobe and multiple small subependymal nodules along both lateral ventricle walls as well as both Foramen Monroe, has left subependymal giant cell astrocytoma, multiple subependymal hamartomas, cortical, subcortical and white matters tubers." "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000251" "00000236" "1" "00002" "00002" "2020-12-08 11:13:58" "" "" "MLPA;PCRlr;SEQ" "DNA" "0000000252" "00000237" "1" "00002" "00002" "2020-12-08 14:53:46" "" "" "MLPA;PCRlr;SEQ" "DNA" "0000000837" "00000743" "1" "00004" "00004" "2021-06-29 15:41:37" "" "" "MLPA" "DNA" "0000000838" "00000744" "1" "00004" "00004" "2021-06-29 15:58:57" "" "" "MLPA" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000251" "TSC2" "0000000252" "TSC2" "0000000837" "TSC2" "0000000838" "TSC2" ## 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 = 28 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001163" "0" "90" "16" "2053382" "2053382" "subst" "0" "00002" "TSC2_000001" "g.2053382T>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "L89X" "" "rs267607244" "0000001164" "0" "90" "16" "2057156" "2057157" "del" "0" "00002" "TSC2_000002" "g.2057156_2057157del" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs137853977}, {ClinVar:49447}" "M276VFsX337" "" "rs137853977" "0000001165" "0" "90" "16" "2086807" "2086807" "subst" "0" "00002" "TSC2_000003" "g.2086807G>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs137854343}, {ClinVar:49978}" "G1642D" "" "rs137854343" "0000001166" "0" "90" "16" "2088294" "2088294" "subst" "0" "00002" "TSC2_000004" "g.2088294G>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs45507199}, {ClinVar:49960}" "R1743Q" "" "rs45507199" "0000001167" "0" "50" "16" "2081739" "2081739" "subst" "0" "00002" "TSC2_000005" "g.2081739C>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs1027773484}, {ClinVar:572914}" "S1252X" "" "rs1027773484" "0000001168" "0" "90" "16" "2083810" "2083810" "subst" "0" "00002" "TSC2_000006" "g.2083810C>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs775604492}, {ClinVar:575698}" "Y1333X" "" "rs775604492" "0000001169" "0" "90" "16" "2087866" "2087866" "subst" "0" "00002" "TSC2_000007" "g.2087866C>T" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs45448101}, {ClinVar:49340}" "Q1665X" "" "rs45448101" "0000001170" "0" "10" "16" "2060794" "2060794" "subst" "0" "00002" "TSC2_000008" "g.2060794G>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs1800725}, {ClinVar:41725}" "R367Q" "" "rs1800725" "0000001171" "0" "90" "16" "2079032" "2082504" "del" "0" "00002" "TSC2_000009" "g.2079032_2082504del" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "del_ex26-ex31;2967_3883del917bp p.S990RFsX1016" "" "" "0000001172" "0" "90" "16" "2079374" "2079374" "subst" "0" "00002" "TSC2_000010" "g.2079374C>A" "1/10" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "T1077N" "" "rs876659824" "0000001173" "0" "00" "16" "2057163" "2057163" "subst" "0" "00002" "TSC2_000011" "g.2057163A>C" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs397515266}, {ClinVar:65355}" "H278P" "" "rs397515266" "0000001174" "0" "90" "16" "2076084" "2076085" "ins" "0" "00002" "TSC2_000012" "g.2076084_2076085insGT" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "V886GFsX895" "" "" "0000001175" "0" "00" "16" "2058754" "2058754" "subst" "0" "00002" "TSC2_000013" "g.2058754A>G" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs1800748}, {ClinVar:50009}" "M286V" "" "rs1800748" "0000001176" "0" "50" "16" "2070564" "2070564" "subst" "0" "00002" "TSC2_000014" "g.2070564A>G" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs1596344129}, {ClinVar:820445}" "S609G" "" "rs1596344129" "0000001177" "0" "00" "16" "2062601" "2062601" "subst" "0" "00002" "TSC2_000015" "g.2062601G>A" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs45517164}, {ClinVar:49693}" "" "" "rs45517164" "0000001178" "0" "90" "16" "2065633" "2065633" "subst" "0" "00002" "TSC2_000016" "g.2065633C>T" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {ClinVar:943529}" "Q572X" "" "" "0000001179" "0" "00" "16" "2080348" "2080348" "subst" "0" "00002" "TSC2_000017" "g.2080348G>A" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs397515168}, {ClinVar:65230}" "W1194X" "" "rs397515168" "0000001180" "0" "90" "16" "2081739" "2081739" "subst" "0" "00002" "TSC2_000005" "g.2081739C>A" "2/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs1027773484}, {ClinVar:572914}" "S1252X" "" "rs1027773484" "0000001181" "0" "90" "16" "2084566" "2084566" "dup" "0" "00002" "TSC2_000018" "g.2084566dup" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "S1448FsX1523" "" "" "0000001182" "0" "90" "16" "2088053" "2088053" "dup" "0" "00002" "TSC2_000019" "g.2088053dup" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "E1692GFsX1706" "" "" "0000001183" "0" "00" "16" "2071869" "2071869" "subst" "0" "00002" "TSC2_000020" "g.2071869G>A" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs200494044}, {ClinVar:184135}" "A678T" "" "rs200494044" "0000001184" "0" "90" "16" "2083695" "2088610" "del" "0" "00002" "TSC2_000021" "g.2083695_2088610del" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "" "" "" "0000001185" "0" "90" "16" "2048616" "2065635" "del" "0" "00002" "TSC2_000022" "g.2048616_2065635del" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "" "" "" "0000001186" "0" "50" "16" "2080362" "2080362" "subst" "0" "00002" "TSC2_000023" "g.2080362G>A" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs1596390891}, {ClinVar:653547}" "V1199I" "" "rs1596390891" "0000001187" "0" "90" "16" "2080363" "2080363" "subst" "0" "00002" "TSC2_000024" "g.2080363T>C" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "V1199T" "" "rs1603274834" "0000001188" "0" "90" "16" "2056701" "2056701" "dup" "0" "00002" "TSC2_000025" "g.2056701dup" "1/18" "{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}" "c.705insC;p.S235SFsX337" "" "rs879254653" "0000002990" "0" "90" "16" "2079032" "2082504" "del" "0" "00004" "TSC2_000009" "g.2079032_2082504del" "" "{PMID:Nur Farrah Dila Ismail et al.(2014):24683199}" "g.del_ex26-ex31; c.2970-3886del917bp; p.S990R-FsX36" "" "" "0000002992" "0" "90" "16" "39390" "44305" "del" "0" "00004" "TSC2_000021" "g.39390_44305del" "" "{PMID:Nur Farrah Dila Ismail et al.(2014):24683199}" "g.del_ex32-41; c.3887-5404del1516bp; p.A1295X" "" "" ## 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 TSC2 ## Count = 28 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001163" "00000058" "90" "266" "0" "266" "0" "c.266T>A" "3" "p.(Leu89*)" "r.(?)" "" "" "" "0000001164" "00000058" "90" "826" "0" "827" "0" "c.826_827delAT" "8" "p.(Met276Valfs*61)" "r.(?)" "" "" "{ClinVar:49447}" "0000001165" "00000058" "90" "4925" "0" "4925" "0" "c.4925G>A" "37" "p.(Gly1642Asp)" "r.(?)" "" "" "{ClinVar:49978}" "0000001166" "00000058" "90" "5228" "0" "5228" "0" "c.5228G>A" "40" "p.(Arg1743Gln)" "r.(?)" "" "" "{ClinVar:49960}" "0000001167" "00000058" "50" "3755" "0" "3755" "0" "c.3755C>A" "30" "p.(Ser1252*)" "r.(?)" "" "" "{ClinVar:572914}" "0000001168" "00000058" "90" "3999" "0" "3999" "0" "c.3999C>A" "32" "p.(Tyr1333*)" "r.(?)" "" "" "{ClinVar:575698}" "0000001169" "00000058" "90" "4993" "0" "4993" "0" "c.4993C>T" "38" "p.(Gln1665*)" "r.(?)" "" "" "{ClinVar:49340}" "0000001170" "00000058" "10" "1100" "0" "1100" "0" "c.1100G>A" "10" "p.(Arg367Gln)" "r.(?)" "" "" "{ClinVar:41725}" "0000001171" "00000058" "90" "2967" "0" "3883" "0" "c.2967_3883del" "26-31" "p.(Ser989Argfs*27)" "r.(?)" "" "" "" "0000001172" "00000058" "90" "3230" "0" "3230" "0" "c.3230C>A" "27" "p.(Thr1077Asn)" "r.(?)" "" "" "" "0000001173" "00000058" "00" "833" "0" "833" "0" "c.833A>C" "8" "p.(His278Pro)" "r.(?)" "" "" "{ClinVar:65355}" "0000001174" "00000058" "90" "2656" "0" "2657" "0" "c.2656_2657insGT" "23" "p.(Val886Glyfs*9)" "r.(?)" "" "" "" "0000001175" "00000058" "00" "856" "0" "856" "0" "c.856A>G" "9" "p.(Met286Val)" "r.(?)" "" "" "{ClinVar:50009}" "0000001176" "00000058" "50" "1825" "0" "1825" "0" "c.1825A>G" "16" "p.(Ser609Gly)" "r.(?)" "" "" "{ClinVar:820445}" "0000001177" "00000058" "00" "1361" "1" "1361" "1" "c.1361+1G>A" "21i" "p.?" "r.spl?" "" "" "{ClinVar:49693}" "0000001178" "00000058" "90" "1714" "0" "1714" "0" "c.1714C>T" "15" "p.(Gln572*)" "r.(?)" "" "" "" "0000001179" "00000058" "00" "3581" "0" "3581" "0" "c.3581G>A" "29" "p.(Trp1194*)" "r.(?)" "" "" "{ClinVar:65230}" "0000001180" "00000058" "90" "3755" "0" "3755" "0" "c.3755C>A" "30" "p.(Ser1252*)" "r.(?)" "" "" "{ClinVar:572914}" "0000001181" "00000058" "90" "4344" "0" "4345" "0" "c.4344_4345insC" "33" "p.(Ser1449Leufs*75)" "r.(?)" "" "" "" "0000001182" "00000058" "90" "5074" "0" "5075" "0" "c.5074_5075insG" "39" "p.(Glu1692Glyfs*14)" "r.(?)" "" "" "" "0000001183" "00000058" "00" "2032" "0" "2032" "0" "c.2032G>A" "18" "p.(Ala678Thr)" "r.(?)" "" "" "{ClinVar:184135}" "0000001184" "00000058" "90" "3884" "0" "5424" "0" "c.3884_5424del" "32-41" "p.?" "r.?" "" "" "" "0000001185" "00000058" "90" "1" "0" "1716" "0" "c.1_1716del" "1-15" "p.?" "r.?" "" "" "" "0000001186" "00000058" "50" "3595" "0" "3595" "0" "c.3595G>A" "29" "p.(Val1199Ile)" "r.(?)" "" "" "{ClinVar:653547}" "0000001187" "00000058" "90" "3596" "0" "3596" "0" "c.3596T>C" "29" "p.(Val1199Ala)" "r.(?)" "" "" "" "0000001188" "00000058" "90" "705" "0" "705" "0" "c.705dupC" "7" "p.(Leu236Profs*102)" "r.(?)" "" "" "" "0000002990" "00000058" "90" "2967" "0" "3883" "0" "c.2967_3883del" "26-31" "p.(Ser989Argfs*27)" "r.(?)" "" "" "" "0000002992" "00000058" "90" "3884" "0" "5424" "0" "c.3884_5424del" "32-41" "p.?" "r.?" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000000251" "0000001163" "0000000251" "0000001164" "0000000251" "0000001165" "0000000251" "0000001166" "0000000251" "0000001167" "0000000251" "0000001168" "0000000251" "0000001169" "0000000251" "0000001170" "0000000251" "0000001171" "0000000251" "0000001172" "0000000252" "0000001173" "0000000252" "0000001174" "0000000252" "0000001175" "0000000252" "0000001176" "0000000252" "0000001177" "0000000252" "0000001178" "0000000252" "0000001179" "0000000252" "0000001180" "0000000252" "0000001181" "0000000252" "0000001182" "0000000252" "0000001183" "0000000252" "0000001184" "0000000252" "0000001185" "0000000252" "0000001186" "0000000252" "0000001187" "0000000252" "0000001188" "0000000837" "0000002990" "0000000838" "0000002992"