### 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" "00006" "2026-03-16 09:40:59" ## 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 = 4 "{{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" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "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 = 3 "{{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" "00473051" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam11589Pat164" "00474161" "" "" "" "1" "" "01164" "" "" "F" "no" "? (unknown)" "" "0" "" "" "" "365796" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00445371" "00198" "00473051" "05113" "00474161" "07093" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00150, 00198, 05113, 07093 ## Count = 4 "{{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" "" "0000357846" "05113" "00473051" "00006" "Unknown" "58y" "Distal lower limbs neuropathy & mild muscle weakness; Numbness since 10y ago; Muscle cramps; Lower limb muscle pain." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358961" "07093" "00474161" "01164" "Unknown" "11y" "Muscle weakness, Positional foot deformity" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{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" "0000474720" "00473051" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475839" "00474161" "1" "01164" "01164" "2026-03-12 13:38:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000475839" "ITPR3" ## 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 = 65 "{{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" "" "0001064536" "0" "50" "6" "33642006" "33642006" "subst" "8.18967E-6" "02325" "ITPR3_000064" "g.33642006G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064537" "0" "30" "6" "33658817" "33658817" "subst" "7.7153E-5" "02325" "ITPR3_000065" "g.33658817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001069118" "0" "50" "6" "33643532" "33643532" "subst" "0" "00006" "ITPR3_000066" "g.33643532C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.33675755C>T" "SCV006074995" "VUS" "ACMG" "0001070556" "0" "50" "6" "33636381" "33636381" "subst" "0" "01164" "ITPR3_000067" "g.33636381C>T" "" "" "" "" "ACMG/AMP: PM2-supporting,PP2-supporting,PP3-moderate" "Germline" "?" "" "" "" "" "g.33668604C>T" "" "VUS" "ACMG" ## 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 = 65 "{{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)" "" "0001064536" "00010232" "50" "3080" "0" "3080" "0" "c.3080G>A" "r.(?)" "p.(Arg1027His)" "" "0001064537" "00010232" "30" "7156" "0" "7156" "0" "c.7156G>A" "r.(?)" "p.(Val2386Ile)" "" "0001069118" "00010232" "50" "3181" "0" "3181" "0" "c.3181C>T" "r.(?)" "p.(His1061Tyr)" "" "0001070556" "00010232" "50" "1976" "0" "1976" "0" "c.1976C>T" "r.?" "p.(Pro659Leu)" "17" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000446942" "0000955372" "0000474720" "0001069118" "0000475839" "0001070556"