### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITPR3) # 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}}" "ITPR3" "inositol 1,4,5-trisphosphate receptor, type 3" "6" "p21.31" "unknown" "NC_000006.11" "UD_132118450319" "" "https://www.LOVD.nl/ITPR3" "" "1" "6182" "3710" "147267" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-06-24 17:15:39" "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}}" "00010232" "ITPR3" "inositol 1,4,5-trisphosphate receptor, type 3" "001" "NM_002224.3" "" "NP_002215.2" "" "" "" "-224" "8810" "8016" "33589156" "33664351" "" "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}}" "00150" "IDDM" "diabetes mellitus, insulin-dependent (IDDM)" "AR" "222100" "" "" "" "00001" "2013-06-14 15:55:22" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "07093" "CMT1J" "Charcot-Marie-Tooth disease, demyelinating, type 1J" "AD" "620111" "" "" "" "00006" "2024-06-24 17:17:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ITPR3" "00150" "ITPR3" "07093" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00445371" "" "" "" "2" "" "00006" "{PMID:Rinne 2020:32535041}" "2-generation family, affected twin brothers, unaffected carrier mother" "M" "" "Albania" "" "0" "" "" "" "Fam10031Pat1/4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00445371" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00150, 00198, 07093 ## Count = 2 "{{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}}" "0000334606" "00198" "00445371" "00006" "Unknown" "07y" "see paper; ..., severe atrioventricular block; fainting, dizziness, received pacemaker" "" "" "" "" "" "" "" "" "" "atrioventricular block" "" "0000334609" "00198" "00445371" "00006" "Unknown" "" "see paper; ..., ventricular premature beats in patients, brother (Pat5) and father (Pat3)" "" "" "" "" "" "" "" "" "" "ventricular premature beats" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000446942" "00445371" "1" "00006" "00006" "2024-01-10 16:53:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 61 "{{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}}" "0000285403" "0" "50" "6" "33639854" "33639854" "subst" "0" "02326" "ITPR3_000002" "g.33639854C>G" "" "" "" "ITPR3(NM_002224.3):c.2777C>G (p.T926S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33672077C>G" "" "VUS" "" "0000528726" "0" "50" "6" "33630742" "33630742" "subst" "7.93056E-5" "01943" "ITPR3_000004" "g.33630742C>T" "" "" "" "ITPR3(NM_002224.3):c.913C>T (p.R305C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33662965C>T" "" "VUS" "" "0000528729" "0" "30" "6" "33638138" "33638138" "subst" "0.00300413" "01804" "ITPR3_000007" "g.33638138C>A" "" "" "" "ITPR3(NM_002224.3):c.2226C>A (p.(Asp742Glu), p.D742E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33670361C>A" "" "likely benign" "" "0000528730" "0" "30" "6" "33638138" "33638138" "subst" "0.000590242" "01943" "ITPR3_000008" "g.33638138C>T" "" "" "" "ITPR3(NM_002224.3):c.2226C>T (p.D742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33670361C>T" "" "likely benign" "" "0000610327" "0" "30" "6" "33631519" "33631519" "subst" "0.000644072" "01943" "ITPR3_000009" "g.33631519C>T" "" "" "" "ITPR3(NM_002224.3):c.1010C>T (p.A337V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33663742C>T" "" "likely benign" "" "0000610328" "0" "50" "6" "33634963" "33634963" "subst" "4.06147E-6" "01943" "ITPR3_000010" "g.33634963C>T" "" "" "" "ITPR3(NM_002224.3):c.1609C>T (p.R537W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33667186C>T" "" "VUS" "" "0000610330" "0" "30" "6" "33657157" "33657157" "subst" "0.000573968" "01943" "ITPR3_000012" "g.33657157G>A" "" "" "" "ITPR3(NM_002224.3):c.6837G>A (p.G2279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33689380G>A" "" "likely benign" "" "0000621705" "0" "30" "6" "33661440" "33661440" "subst" "8.12334E-6" "01943" "ITPR3_000013" "g.33661440C>T" "" "" "" "ITPR3(NM_002224.3):c.7743C>T (p.T2581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33693663C>T" "" "likely benign" "" "0000677762" "0" "30" "6" "33631649" "33631649" "subst" "2.43845E-5" "01943" "ITPR3_000014" "g.33631649C>T" "" "" "" "ITPR3(NM_002224.3):c.1140C>T (p.F380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677763" "0" "50" "6" "33635566" "33635566" "subst" "1.62752E-5" "01804" "ITPR3_000015" "g.33635566C>A" "" "" "" "ITPR3(NM_002224.3):c.1714-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677764" "0" "30" "6" "33652433" "33652433" "subst" "1.21852E-5" "01943" "ITPR3_000016" "g.33652433C>T" "" "" "" "ITPR3(NM_002224.3):c.5105C>T (p.S1702L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689724" "0" "50" "6" "33646608" "33646608" "subst" "0" "01804" "ITPR3_000017" "g.33646608A>C" "" "" "" "ITPR3(NM_002224.3):c.3964A>C (p.(Met1322Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802571" "0" "30" "6" "33626608" "33626608" "subst" "0" "01943" "ITPR3_000018" "g.33626608G>A" "" "" "" "ITPR3(NM_002224.3):c.528+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802572" "0" "30" "6" "33647740" "33647740" "subst" "8.14193E-5" "02327" "ITPR3_000019" "g.33647740G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851208" "0" "30" "6" "33632835" "33632835" "subst" "4.47781E-5" "01943" "ITPR3_000020" "g.33632835C>T" "" "" "" "ITPR3(NM_002224.3):c.1254C>T (p.G418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851209" "0" "50" "6" "33662767" "33662767" "subst" "0" "01943" "ITPR3_000023" "g.33662767G>C" "" "" "" "ITPR3(NM_002224.3):c.7852G>C (p.E2618Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860328" "0" "50" "6" "33635566" "33635566" "subst" "1.62752E-5" "01943" "ITPR3_000015" "g.33635566C>A" "" "" "" "ITPR3(NM_002224.3):c.1714-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860329" "0" "30" "6" "33639879" "33639879" "subst" "2.43879E-5" "01943" "ITPR3_000021" "g.33639879C>T" "" "" "" "ITPR3(NM_002224.3):c.2802C>T (p.S934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860330" "0" "50" "6" "33648336" "33648336" "subst" "1.62772E-5" "02327" "ITPR3_000022" "g.33648336G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887220" "0" "30" "6" "33626783" "33626783" "subst" "0.00197257" "02326" "ITPR3_000024" "g.33626783C>T" "" "" "" "ITPR3(NM_002224.3):c.529-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887221" "0" "30" "6" "33635074" "33635074" "subst" "0.000457766" "02326" "ITPR3_000025" "g.33635074C>T" "" "" "" "ITPR3(NM_002224.3):c.1713+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887222" "0" "30" "6" "33647676" "33647676" "subst" "0.0038435" "02326" "ITPR3_000026" "g.33647676C>T" "" "" "" "ITPR3(NM_002224.3):c.3990C>T (p.D1330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887223" "0" "30" "6" "33651104" "33651104" "subst" "0.000203991" "02326" "ITPR3_000027" "g.33651104C>T" "" "" "" "ITPR3(NM_002224.3):c.4718C>T (p.T1573M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887224" "0" "30" "6" "33653506" "33653506" "subst" "0.000629514" "02326" "ITPR3_000028" "g.33653506C>T" "" "" "" "ITPR3(NM_002224.3):c.5569C>T (p.(Arg1857Cys), p.R1857C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912491" "0" "30" "6" "33608242" "33608242" "subst" "0" "02326" "ITPR3_000029" "g.33608242G>A" "" "" "" "ITPR3(NM_002224.3):c.90-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912492" "0" "30" "6" "33626795" "33626795" "subst" "0.00103234" "02326" "ITPR3_000030" "g.33626795C>T" "" "" "" "ITPR3(NM_002224.3):c.529-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912493" "0" "30" "6" "33631619" "33631619" "subst" "0.000515824" "02326" "ITPR3_000031" "g.33631619C>T" "" "" "" "ITPR3(NM_002224.3):c.1110C>T (p.D370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912494" "0" "30" "6" "33632998" "33633013" "del" "0" "02326" "ITPR3_000032" "g.33632998_33633013del" "" "" "" "ITPR3(NM_002224.3):c.1409+8_1409+23delGCAGTGGCACAGGGGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912495" "0" "30" "6" "33635085" "33635085" "subst" "4.17063E-6" "02326" "ITPR3_000033" "g.33635085T>G" "" "" "" "ITPR3(NM_002224.3):c.1713+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912496" "0" "30" "6" "33636891" "33636891" "subst" "0" "02326" "ITPR3_000034" "g.33636891G>C" "" "" "" "ITPR3(NM_002224.3):c.2147G>C (p.R716P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912497" "0" "70" "6" "33636903" "33636907" "dup" "0" "02326" "ITPR3_000035" "g.33636903_33636907dup" "" "" "" "ITPR3(NM_002224.3):c.2159_2163dupCCCAC (p.D722Pfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912498" "0" "30" "6" "33638091" "33638091" "subst" "4.90998E-5" "02326" "ITPR3_000036" "g.33638091C>G" "" "" "" "ITPR3(NM_002224.3):c.2190-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912499" "0" "30" "6" "33641487" "33641487" "subst" "0.000853215" "02326" "ITPR3_000037" "g.33641487C>T" "" "" "" "ITPR3(NM_002224.3):c.3048C>T (p.F1016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912500" "0" "30" "6" "33643512" "33643512" "subst" "0.000840074" "02326" "ITPR3_000038" "g.33643512T>C" "" "" "" "ITPR3(NM_002224.3):c.3161T>C (p.M1054T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912501" "0" "30" "6" "33646487" "33646487" "subst" "0" "02326" "ITPR3_000039" "g.33646487T>C" "" "" "" "ITPR3(NM_002224.3):c.3843T>C (p.P1281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912502" "0" "30" "6" "33646502" "33646502" "subst" "0.00046865" "02326" "ITPR3_000040" "g.33646502C>T" "" "" "" "ITPR3(NM_002224.3):c.3858C>T (p.F1286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912503" "0" "30" "6" "33648249" "33648249" "subst" "0.00018449" "02326" "ITPR3_000041" "g.33648249G>T" "" "" "" "ITPR3(NM_002224.3):c.4350+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912504" "0" "30" "6" "33650351" "33650351" "subst" "0.000401785" "02326" "ITPR3_000042" "g.33650351C>T" "" "" "" "ITPR3(NM_002224.3):c.4527C>T (p.L1509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912505" "0" "30" "6" "33652362" "33652362" "subst" "0.000247776" "02326" "ITPR3_000043" "g.33652362C>T" "" "" "" "ITPR3(NM_002224.3):c.5047-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912506" "0" "30" "6" "33655899" "33655901" "del" "0" "02326" "ITPR3_000044" "g.33655899_33655901del" "" "" "" "ITPR3(NM_002224.3):c.6330_6332delGGA (p.E2111del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924494" "0" "30" "6" "33626912" "33626912" "del" "0" "02326" "ITPR3_000045" "g.33626912del" "" "" "" "ITPR3(NM_002224.3):c.627+16delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924495" "0" "30" "6" "33631598" "33631598" "subst" "0.000272134" "02326" "ITPR3_000046" "g.33631598C>T" "" "" "" "ITPR3(NM_002224.3):c.1089C>T (p.I363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924496" "0" "30" "6" "33635694" "33635694" "subst" "0.000617389" "02326" "ITPR3_000047" "g.33635694C>T" "" "" "" "ITPR3(NM_002224.3):c.1839C>T (p.T613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924497" "0" "10" "6" "33638138" "33638138" "subst" "0.00300413" "02326" "ITPR3_000007" "g.33638138C>A" "" "" "" "ITPR3(NM_002224.3):c.2226C>A (p.(Asp742Glu), p.D742E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924498" "0" "30" "6" "33650411" "33650411" "subst" "0.00331067" "02326" "ITPR3_000048" "g.33650411C>T" "" "" "" "ITPR3(NM_002224.3):c.4587C>T (p.L1529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924499" "0" "30" "6" "33653971" "33653971" "subst" "0.00056545" "02326" "ITPR3_000049" "g.33653971G>A" "" "" "" "ITPR3(NM_002224.3):c.5809G>A (p.V1937I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924500" "0" "30" "6" "33658853" "33658853" "subst" "0.00179495" "02326" "ITPR3_000050" "g.33658853G>C" "" "" "" "ITPR3(NM_002224.3):c.7192G>C (p.E2398Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924501" "0" "30" "6" "33661303" "33661303" "subst" "4.47715E-5" "02326" "ITPR3_000051" "g.33661303C>G" "" "" "" "ITPR3(NM_002224.3):c.7625-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929176" "0" "30" "6" "33631668" "33631668" "subst" "0.000578506" "02326" "ITPR3_000052" "g.33631668G>T" "" "" "" "ITPR3(NM_002224.3):c.1148+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929177" "0" "30" "6" "33648214" "33648214" "subst" "0" "02326" "ITPR3_000053" "g.33648214A>C" "" "" "" "ITPR3(NM_002224.3):c.4333A>C (p.T1445P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929178" "0" "30" "6" "33652435" "33652435" "subst" "0.000174666" "02326" "ITPR3_000054" "g.33652435C>T" "" "" "" "ITPR3(NM_002224.3):c.5107C>T (p.(Arg1703Trp), p.R1703W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929179" "0" "30" "6" "33660654" "33660654" "subst" "0.00221027" "02326" "ITPR3_000055" "g.33660654G>A" "" "" "" "ITPR3(NM_002224.3):c.7608G>A (p.T2536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948701" "0" "30" "6" "33651105" "33651105" "subst" "9.44671E-5" "02326" "ITPR3_000056" "g.33651105G>A" "" "" "" "ITPR3(NM_002224.3):c.4719G>A (p.T1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948702" "0" "30" "6" "33655357" "33655357" "subst" "0.000259329" "02326" "ITPR3_000057" "g.33655357G>A" "" "" "" "ITPR3(NM_002224.3):c.6264+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000955372" "11" "30" "6" "33658687" "33658687" "subst" "0.000155012" "00006" "ITPR3_000058" "g.33658687C>T" "" "{PMID:Rinne 2020:32535041}" "" "" "" "Germline" "no" "" "0" "" "" "g.33690910C>T" "" "likely benign" "" "0000995734" "0" "30" "6" "33652435" "33652435" "subst" "0.000174666" "01804" "ITPR3_000054" "g.33652435C>T" "" "" "" "ITPR3(NM_002224.3):c.5107C>T (p.(Arg1703Trp), p.R1703W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995735" "0" "30" "6" "33653506" "33653506" "subst" "0.000629514" "01804" "ITPR3_000028" "g.33653506C>T" "" "" "" "ITPR3(NM_002224.3):c.5569C>T (p.(Arg1857Cys), p.R1857C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035733" "0" "50" "6" "33639817" "33639817" "subst" "0" "02327" "ITPR3_000060" "g.33639817C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035734" "0" "30" "6" "33642030" "33642030" "subst" "3.68843E-5" "01804" "ITPR3_000061" "g.33642030T>C" "" "" "" "ITPR3(NM_002224.4):c.3104T>C (p.(Met1035Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035735" "0" "30" "6" "33652542" "33652542" "subst" "0.0196505" "01804" "ITPR3_000062" "g.33652542C>T" "" "" "" "ITPR3(NM_002224.4):c.5138-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052327" "0" "50" "6" "33653832" "33653832" "subst" "8.12757E-6" "01804" "ITPR3_000063" "g.33653832C>A" "" "" "" "ITPR3(NM_002224.4):c.5670C>A (p.(Asn1890Lys))" "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 ITPR3 ## Count = 61 "{{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}}" "0000285403" "00010232" "50" "2777" "0" "2777" "0" "c.2777C>G" "r.(?)" "p.(Thr926Ser)" "" "0000528726" "00010232" "50" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Arg305Cys)" "" "0000528729" "00010232" "30" "2226" "0" "2226" "0" "c.2226C>A" "r.(?)" "p.(Asp742Glu)" "" "0000528730" "00010232" "30" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Asp742=)" "" "0000610327" "00010232" "30" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ala337Val)" "" "0000610328" "00010232" "50" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Trp)" "" "0000610330" "00010232" "30" "6837" "0" "6837" "0" "c.6837G>A" "r.(?)" "p.(Gly2279=)" "" "0000621705" "00010232" "30" "7743" "0" "7743" "0" "c.7743C>T" "r.(?)" "p.(Thr2581=)" "" "0000677762" "00010232" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Phe380=)" "" "0000677763" "00010232" "50" "1714" "-3" "1714" "-3" "c.1714-3C>A" "r.spl?" "p.?" "" "0000677764" "00010232" "30" "5105" "0" "5105" "0" "c.5105C>T" "r.(?)" "p.(Ser1702Leu)" "" "0000689724" "00010232" "50" "3964" "0" "3964" "0" "c.3964A>C" "r.(?)" "p.(Met1322Leu)" "" "0000802571" "00010232" "30" "528" "3" "528" "3" "c.528+3G>A" "r.spl?" "p.?" "" "0000802572" "00010232" "30" "4054" "0" "4054" "0" "c.4054G>A" "r.(?)" "p.(Ala1352Thr)" "" "0000851208" "00010232" "30" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(Gly418=)" "" "0000851209" "00010232" "50" "7852" "0" "7852" "0" "c.7852G>C" "r.(?)" "p.(Glu2618Gln)" "" "0000860328" "00010232" "50" "1714" "-3" "1714" "-3" "c.1714-3C>A" "r.spl?" "p.?" "" "0000860329" "00010232" "30" "2802" "0" "2802" "0" "c.2802C>T" "r.(?)" "p.(Ser934=)" "" "0000860330" "00010232" "50" "4355" "0" "4355" "0" "c.4355G>A" "r.(?)" "p.(Cys1452Tyr)" "" "0000887220" "00010232" "30" "529" "-15" "529" "-15" "c.529-15C>T" "r.(=)" "p.(=)" "" "0000887221" "00010232" "30" "1713" "7" "1713" "7" "c.1713+7C>T" "r.(=)" "p.(=)" "" "0000887222" "00010232" "30" "3990" "0" "3990" "0" "c.3990C>T" "r.(?)" "p.(Asp1330=)" "" "0000887223" "00010232" "30" "4718" "0" "4718" "0" "c.4718C>T" "r.(?)" "p.(Thr1573Met)" "" "0000887224" "00010232" "30" "5569" "0" "5569" "0" "c.5569C>T" "r.(?)" "p.(Arg1857Cys)" "" "0000912491" "00010232" "30" "90" "-19" "90" "-19" "c.90-19G>A" "r.(=)" "p.(=)" "" "0000912492" "00010232" "30" "529" "-3" "529" "-3" "c.529-3C>T" "r.spl?" "p.?" "" "0000912493" "00010232" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Asp370=)" "" "0000912494" "00010232" "30" "1409" "8" "1409" "23" "c.1409+8_1409+23del" "r.(=)" "p.(=)" "" "0000912495" "00010232" "30" "1713" "18" "1713" "18" "c.1713+18T>G" "r.(=)" "p.(=)" "" "0000912496" "00010232" "30" "2147" "0" "2147" "0" "c.2147G>C" "r.(?)" "p.(Arg716Pro)" "" "0000912497" "00010232" "70" "2159" "0" "2163" "0" "c.2159_2163dup" "r.(?)" "p.(Asp722Profs*14)" "" "0000912498" "00010232" "30" "2190" "-11" "2190" "-11" "c.2190-11C>G" "r.(=)" "p.(=)" "" "0000912499" "00010232" "30" "3048" "0" "3048" "0" "c.3048C>T" "r.(?)" "p.(Phe1016=)" "" "0000912500" "00010232" "30" "3161" "0" "3161" "0" "c.3161T>C" "r.(?)" "p.(Met1054Thr)" "" "0000912501" "00010232" "30" "3843" "0" "3843" "0" "c.3843T>C" "r.(?)" "p.(Pro1281=)" "" "0000912502" "00010232" "30" "3858" "0" "3858" "0" "c.3858C>T" "r.(?)" "p.(Phe1286=)" "" "0000912503" "00010232" "30" "4350" "18" "4350" "18" "c.4350+18G>T" "r.(=)" "p.(=)" "" "0000912504" "00010232" "30" "4527" "0" "4527" "0" "c.4527C>T" "r.(?)" "p.(Leu1509=)" "" "0000912505" "00010232" "30" "5047" "-13" "5047" "-13" "c.5047-13C>T" "r.(=)" "p.(=)" "" "0000912506" "00010232" "30" "6330" "0" "6332" "0" "c.6330_6332del" "r.(?)" "p.(Glu2111del)" "" "0000924494" "00010232" "30" "627" "16" "627" "16" "c.627+16del" "r.(=)" "p.(=)" "" "0000924495" "00010232" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Ile363=)" "" "0000924496" "00010232" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Thr613=)" "" "0000924497" "00010232" "10" "2226" "0" "2226" "0" "c.2226C>A" "r.(?)" "p.(Asp742Glu)" "" "0000924498" "00010232" "30" "4587" "0" "4587" "0" "c.4587C>T" "r.(?)" "p.(Leu1529=)" "" "0000924499" "00010232" "30" "5809" "0" "5809" "0" "c.5809G>A" "r.(?)" "p.(Val1937Ile)" "" "0000924500" "00010232" "30" "7192" "0" "7192" "0" "c.7192G>C" "r.(?)" "p.(Glu2398Gln)" "" "0000924501" "00010232" "30" "7625" "-19" "7625" "-19" "c.7625-19C>G" "r.(=)" "p.(=)" "" "0000929176" "00010232" "30" "1148" "11" "1148" "11" "c.1148+11G>T" "r.(=)" "p.(=)" "" "0000929177" "00010232" "30" "4333" "0" "4333" "0" "c.4333A>C" "r.(?)" "p.(Thr1445Pro)" "" "0000929178" "00010232" "30" "5107" "0" "5107" "0" "c.5107C>T" "r.(?)" "p.(Arg1703Trp)" "" "0000929179" "00010232" "30" "7608" "0" "7608" "0" "c.7608G>A" "r.(?)" "p.(=)" "" "0000948701" "00010232" "30" "4719" "0" "4719" "0" "c.4719G>A" "r.(?)" "p.(=)" "" "0000948702" "00010232" "30" "6264" "16" "6264" "16" "c.6264+16G>A" "r.(=)" "p.(=)" "" "0000955372" "00010232" "30" "7033" "-7" "7033" "-7" "c.7033-7C>T" "r.(7032_7033=)" "p.(=)" "" "0000995734" "00010232" "30" "5107" "0" "5107" "0" "c.5107C>T" "r.(?)" "p.(Arg1703Trp)" "" "0000995735" "00010232" "30" "5569" "0" "5569" "0" "c.5569C>T" "r.(?)" "p.(Arg1857Cys)" "" "0001035733" "00010232" "50" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Arg914Trp)" "" "0001035734" "00010232" "30" "3104" "0" "3104" "0" "c.3104T>C" "r.(?)" "p.(Met1035Thr)" "" "0001035735" "00010232" "30" "5138" "-9" "5138" "-9" "c.5138-9C>T" "r.(=)" "p.(=)" "" "0001052327" "00010232" "50" "5670" "0" "5670" "0" "c.5670C>A" "r.(?)" "p.(Asn1890Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000446942" "0000955372"