### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HTR2C) # 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}}" "HTR2C" "5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled" "X" "q23" "no" "NG_012082.2" "UD_132118827289" "" "http://www.LOVD.nl/HTR2C" "" "1" "5295" "3358" "312861" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/HTR2C_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2016-05-09 15:36:12" "00000" "2024-08-28 13:16:32" ## 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}}" "00024127" "HTR2C" "transcript variant 1" "001" "NM_001256760.1" "" "NP_001243689.1" "" "" "" "-819" "4023" "1377" "113818551" "114144624" "00006" "2016-05-09 15:28:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00058821" "" "" "" "10" "" "01528" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "6-generation family with mutliple affected" "M" "no" "Australia" "" "0" "" "" "" "" "00064677" "" "" "" "19" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377198-Pat?" "00064678" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377199-Pat?" "00064679" "" "" "" "205" "" "00006" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients" "F;M" "" "Germany" "" "0" "" "" "" "" "00064680" "" "" "" "205" "" "00006" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients" "F;M" "" "Germany" "" "0" "" "" "" "" "00064681" "" "" "" "205" "" "00006" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients" "F;M" "" "Germany" "" "0" "" "" "" "" "00064682" "" "" "" "1" "" "00006" "reference haplotype" "" "F;M" "" "" "" "0" "" "" "" "" "00064683" "" "" "" "1" "" "00006" "reference haplotype" "" "F;M" "" "" "" "0" "" "" "" "" "00303074" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat116" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00058821" "00187" "00064677" "00187" "00064678" "00187" "00064679" "00198" "00064680" "00198" "00064681" "00198" "00303074" "05521" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 05521 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "0000046730" "00187" "00058821" "01528" "Familial, X-linked" "" "The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted" "" "" "" "" "" "" "" "" "" "" "" "0000050878" "00187" "00064677" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050879" "00187" "00064678" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050880" "00198" "00064679" "00006" "Unknown" "" "antipsychotic-induced weight gain" "" "" "" "" "" "" "" "" "" "" "" "0000050881" "00198" "00064680" "00006" "Unknown" "" "antipsychotic-induced weight gain" "" "" "" "" "" "" "" "" "" "" "" "0000050882" "00198" "00064681" "00006" "Unknown" "" "antipsychotic-induced weight gain" "" "" "" "" "" "" "" "" "" "" "" "0000230157" "05521" "00303074" "00006" "Familial, X-linked" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000058785" "00058821" "1" "01528" "01528" "2016-02-04 07:45:07" "" "" "SEQ-NG" "DNA" "ThuongHa" "" "0000064817" "00064677" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000064818" "00064678" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000064819" "00064679" "1" "00006" "00006" "2016-05-09 17:39:45" "" "" "SEQ" "DNA" "" "" "0000064820" "00064680" "1" "00006" "00006" "2016-05-09 18:04:48" "" "" "SEQ" "DNA" "" "" "0000064821" "00064681" "1" "00006" "00006" "2016-05-09 18:04:48" "" "" "SEQ" "DNA" "" "" "0000064822" "00064682" "1" "00006" "00006" "2016-05-09 18:56:59" "" "" "SEQ" "DNA" "" "" "0000064823" "00064683" "1" "00006" "00006" "2016-05-09 19:27:15" "" "" "SEQ" "DNA" "" "" "0000304199" "00303074" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000064817" "HTR2C" "0000064818" "HTR2C" "0000064819" "HTR2C" "0000064820" "HTR2C" "0000064821" "HTR2C" "0000064822" "HTR2C" "0000064823" "HTR2C" "0000304199" "HTR2C" ## 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/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}}" "0000007473" "20" "30" "X" "114082535" "114082535" "subst" "0.886356" "00037" "HTR2C_000003" "g.114082535G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114847972G>A" "" "likely benign" "" "0000007474" "20" "30" "X" "114140909" "114140909" "subst" "0" "00037" "HTR2C_000004" "g.114140909A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114906346A>G" "" "likely benign" "" "0000009604" "20" "30" "X" "114082535" "114082535" "subst" "0.886356" "00037" "HTR2C_000003" "g.114082535G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114847972G>A" "" "likely benign" "" "0000011161" "0" "30" "X" "113965690" "113965690" "dup" "0" "00037" "HTR2C_000006" "g.113965690dup" "" "" "" "36-24_36-23insT" "" "Germline" "" "" "0" "" "" "g.114731281dup" "" "likely benign" "" "0000015449" "20" "30" "X" "114140909" "114140909" "subst" "0" "00037" "HTR2C_000004" "g.114140909A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114906346A>G" "" "likely benign" "" "0000089460" "21" "30" "X" "113967823" "113967824" "ins" "0" "01528" "HTR2C_000010" "g.113967823_113967824insA" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "" "" "Germline" "" "rs2428724" "0" "" "" "g.114733414_114733415insA" "" "likely benign" "" "0000096442" "1" "30" "X" "113965735" "113965735" "subst" "0.142926" "00124" "HTR2C_000001" "g.113965735G>C" "19/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 19 times" "Germline" "" "" "0" "" "" "g.114731326=" "" "likely benign" "" "0000096443" "1" "50" "X" "114141318" "114141318" "subst" "0" "00124" "HTR2C_000002" "g.114141318C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y239Y" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.114906755C>T" "" "VUS" "" "0000096445" "1" "50" "X" "113818520" "113818520" "" "0" "00006" "HTR2C_000000" "g.113818520=" "" "Reference haplotype" "" "C-759T (NM_000868.3)" "reference haplotype HTR2C 2-1-1" "SUMMARY record" "" "rs3813929" "0" "" "" "g.114584047=" "" "VUS" "" "0000096447" "1" "70" "X" "113818520" "113818520" "" "0" "00006" "HTR2C_000000" "g.113818520=" "51/61 cases" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "" "" "allele significantly associated with antipsychotic-induced weight gain" "Germline" "" "rs3813929" "0" "" "" "g.114584047=" "" "likely pathogenic" "" "0000096448" "1" "30" "X" "113818582" "113818582" "subst" "0" "00006" "HTR2C_000007" "g.113818582G>C" "10/19 cases" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "" "G-697C" "allele not associated with antipsychotic-induced weight gain" "Germline" "" "rs518147" "0" "" "" "g.114584109=" "" "likely benign" "" "0000096449" "1" "70" "X" "113818520" "113818520" "" "0" "00006" "HTR2C_000000" "g.113818520=" "8/27cases" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "" "C-759T (NM_000868.3)" "allele not associated with antipsychotic-induced weight gain" "Germline" "" "rs3813929" "0" "" "" "g.114584047=" "" "likely pathogenic" "" "0000096450" "1" "30" "X" "113965735" "113965735" "subst" "0.142926" "00006" "HTR2C_000001" "g.113965735G>C" "8/27cases" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "" "Cys23Ser" "allele not associated with antipsychotic-induced weight gain" "Germline" "" "rs6318" "0" "" "" "g.114731326=" "" "likely benign" "" "0000096451" "1" "30" "X" "113818582" "113818582" "subst" "0" "00006" "HTR2C_000007" "g.113818582G>C" "8/27cases" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "" "G-697C" "allele not associated with antipsychotic-induced weight gain" "Germline" "" "rs518147" "0" "" "" "g.114584109=" "" "likely benign" "" "0000096452" "1" "50" "X" "113818520" "113818520" "subst" "0" "00006" "HTR2C_000008" "g.113818520C>T" "" "Reference haplotype" "" "C-759T (NM_000868.3)" "reference haplotype HTR2C 1-1-1" "Germline" "" "rs3813929" "0" "" "" "g.114584047C>T" "" "VUS" "" "0000096454" "1" "50" "X" "113818520" "113818520" "subst" "0" "00006" "HTR2C_000008" "g.113818520C>T" "" "Reference haplotype" "" "C-759T (NM_000868.3)" "reference haplotype HTR2C 1-2-1" "Germline" "" "rs3813929" "0" "" "" "g.114584047C>T" "" "VUS" "" "0000096455" "1" "50" "X" "113818582" "113818582" "subst" "0" "00006" "HTR2C_000007" "g.113818582G>C" "" "Reference haplotype" "" "G-697C (NM_000868.3)" "reference haplotype HTR2C 1-2-1" "SUMMARY record" "" "rs518147" "0" "" "" "g.114584109=" "" "VUS" "" "0000096456" "1" "50" "X" "113818520" "113818520" "subst" "0" "00006" "HTR2C_000008" "g.113818520C>T" "10/19 cases" "{PMID:Sicard 2010:21121776}, {DOI:Sicard 2010:10.2217/pgs.10.123}" "" "" "" "Germline" "" "rs3813929" "0" "" "" "g.114584047C>T" "" "VUS" "" "0000096457" "1" "50" "X" "113965735" "113965735" "subst" "0.142926" "00006" "HTR2C_000001" "g.113965735G>C" "" "Reference haplotype" "" "Cys23Ser" "reference haplotype HTR2C 1-1-2" "SUMMARY record" "" "rs6318" "0" "" "" "g.114731326=" "" "VUS" "" "0000096458" "1" "50" "X" "113818520" "113818520" "subst" "0" "00006" "HTR2C_000008" "g.113818520C>T" "" "Reference haplotype" "" "" "reference haplotype HTR2C 1-1-2" "Germline" "" "rs3813929" "0" "" "" "g.114584047C>T" "" "VUS" "" "0000256063" "0" "50" "X" "114141586" "114141586" "subst" "1.68025E-5" "01943" "HTR2C_000009" "g.114141586A>G" "" "" "" "HTR2C(NM_001256760.2):c.985A>G (p.I329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114907023A>G" "" "VUS" "" "0000573093" "0" "30" "X" "114138144" "114138144" "subst" "0" "02326" "HTR2C_000012" "g.114138144C>G" "" "" "" "HTR2C(NM_001256760.2):c.551-3008C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114903581C>G" "" "likely benign" "" "0000667612" "21" "70" "X" "114141820" "114141823" "del" "0" "00006" "HTR2C_000013" "g.114141820_114141823del" "" "" "" "1219_1222delTCTG" "" "Germline" "" "" "0" "" "" "g.114907257_114907260del" "" "likely pathogenic" "ACMG" "0000693288" "0" "30" "X" "114141154" "114141154" "subst" "6.85922E-5" "01943" "HTR2C_000014" "g.114141154G>A" "" "" "" "HTR2C(NM_001256760.2):c.553G>A (p.V185I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728353" "0" "50" "X" "114141222" "114141222" "subst" "0" "01943" "HTR2C_000015" "g.114141222C>T" "" "" "" "HTR2C(NM_001256761.2):c.526C>T (p.R176C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984400" "0" "30" "X" "114141475" "114141477" "del" "0" "01804" "HTR2C_000016" "g.114141475_114141477del" "" "" "" "HTR2C(NM_000868.3):c.874_876del (p.(Lys292del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006363" "0" "30" "X" "114141431" "114141431" "subst" "0" "01804" "HTR2C_000017" "g.114141431C>T" "" "" "" "HTR2C(NM_000868.2):c.830C>T (p.(Ser277Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006364" "0" "50" "X" "114141751" "114141751" "subst" "0" "01804" "HTR2C_000018" "g.114141751C>T" "" "" "" "HTR2C(NM_000868.2):c.1150C>T (p.(Arg384Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 HTR2C ## Count = 28 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000007473" "00024127" "30" "350" "-31" "350" "-31" "c.350-31G>A" "r.(?)" "p.(=)" "5i" "" "0000007474" "00024127" "30" "551" "-243" "551" "-243" "c.551-243A>G" "r.(?)" "p.(=)" "6i" "" "0000009604" "00024127" "30" "350" "-31" "350" "-31" "c.350-31G>A" "r.(?)" "p.(=)" "5i" "" "0000011161" "00024127" "30" "36" "-13" "36" "-13" "c.36-13dup" "r.(?)" "p.(=)" "4i" "" "0000015449" "00024127" "30" "551" "-243" "551" "-243" "c.551-243A>G" "r.(?)" "p.(=)" "6i" "" "0000089460" "00024127" "30" "349" "1807" "349" "1808" "c.349+1807_349+1808insA" "r.(?)" "p.(=)" "" "" "0000096442" "00024127" "30" "68" "0" "68" "0" "c.68G>C" "r.(?)" "p.(Cys23Ser)" "5" "" "0000096443" "00024127" "50" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Tyr239=)" "7" "" "0000096445" "00024127" "50" "-850" "0" "-850" "0" "c.-850C=" "r.(?)" "p.(=)" "_1" "HTR2C 2-1-1" "0000096447" "00024127" "70" "-850" "0" "-850" "0" "c.-850C=" "r.(=)" "p.(=)" "_1" "HTR2C 2-1-1" "0000096448" "00024127" "30" "-788" "0" "-788" "0" "c.-788G>C" "r.(=)" "p.(=)" "1" "HTR2C 1-2-1" "0000096449" "00024127" "70" "-850" "0" "-850" "0" "c.-850C=" "r.(?)" "p.(=)" "_1" "HTR2C 2-2-2" "0000096450" "00024127" "30" "68" "0" "68" "0" "c.68G>C" "r.(?)" "p.(Cys23Ser)" "5" "HTR2C 2-2-2" "0000096451" "00024127" "30" "-788" "0" "-788" "0" "c.-788G>C" "r.(=)" "p.(=)" "1" "HTR2C 2-2-2" "0000096452" "00024127" "50" "-850" "0" "-850" "0" "c.-850C>T" "r.(=)" "p.(=)" "1" "HTR2C 1-1-1" "0000096454" "00024127" "50" "-850" "0" "-850" "0" "c.-850C>T" "r.(=)" "p.(=)" "_1" "HTR2C 1-2-1" "0000096455" "00024127" "00" "-788" "0" "-788" "0" "c.-788G>C" "r.(?)" "p.(=)" "1" "HTR2C 1-2-1" "0000096456" "00024127" "50" "-850" "0" "-850" "0" "c.-850C>T" "r.(=)" "p.(=)" "_1" "HTR2C 1-2-1" "0000096457" "00024127" "50" "68" "0" "68" "0" "c.68G>C" "r.(?)" "p.(Cys23Ser)" "5" "HTR2C 1-1-2" "0000096458" "00024127" "50" "-850" "0" "-850" "0" "c.-850C>T" "r.(?)" "p.(=)" "_1" "HTR2C 1-1-2" "0000256063" "00024127" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Ile329Val)" "" "" "0000573093" "00024127" "30" "551" "-3008" "551" "-3008" "c.551-3008C>G" "r.(=)" "p.(=)" "" "" "0000667612" "00024127" "70" "1219" "0" "1222" "0" "c.1219_1222del" "r.(?)" "p.(Ser407Glyfs*16)" "" "" "0000693288" "00024127" "30" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Val185Ile)" "" "" "0000728353" "00024127" "50" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Cys207=)" "" "" "0000984400" "00024127" "30" "874" "0" "876" "0" "c.874_876del" "r.(?)" "p.(Lys292del)" "" "" "0001006363" "00024127" "30" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ser277Phe)" "" "" "0001006364" "00024127" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007473" "0000000209" "0000007474" "0000000210" "0000009604" "0000000210" "0000011161" "0000000210" "0000015449" "0000058785" "0000089460" "0000064817" "0000096442" "0000064818" "0000096443" "0000064819" "0000096447" "0000064820" "0000096448" "0000064820" "0000096456" "0000064821" "0000096449" "0000064821" "0000096450" "0000064821" "0000096451" "0000064822" "0000096454" "0000064822" "0000096455" "0000064823" "0000096457" "0000064823" "0000096458" "0000304199" "0000667612"