### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITSN1) # 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}}" "ITSN1" "intersectin 1 (SH3 domain protein)" "21" "q22.1-q22.2" "unknown" "NG_029504.1" "UD_132118710547" "" "https://www.LOVD.nl/ITSN1" "" "1" "6183" "6453" "602442" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ITSN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-02 12:16:15" "00000" "2025-05-05 21:14:00" ## 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}}" "00010236" "ITSN1" "transcript variant 1" "001" "NM_003024.2" "" "NP_003015.2" "" "" "" "-268" "6171" "5166" "35014784" "35261609" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00387804" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, double cousin parents" "" "yes" "" "" "0" "" "" "Zaboli" "M8700021" "00419465" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9090" "00465243" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00387804" "00139" "00419465" "00198" "00465243" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611 ## Count = 3 "{{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}}" "0000281372" "00139" "00387804" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-4.0)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000310746" "00198" "00419465" "02300" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000350778" "05611" "00465243" "03544" "Isolated (sporadic)" "" "HP:0000377, HP:0000486, HP:0000750t, HP:0001249, HP:0001250, HP:0003799, HP:0007018" "" "" "" "" "" "" "" "" "ITSN1-related disorder" "complex neurodevelopmental disorder" "" ## 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}}" "0000389035" "00387804" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420769" "00419465" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466893" "00465243" "1" "03544" "03544" "2025-04-26 12:14:30" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000389035" "ITSN1" ## 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 = 50 "{{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}}" "0000328650" "0" "50" "21" "35107364" "35107364" "subst" "0" "01804" "ITSN1_000001" "g.35107364G>A" "" "" "" "ITSN1(NM_001001132.1):c.201G>A (p.(Met67Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33735059G>A" "" "VUS" "" "0000328651" "0" "50" "21" "35208777" "35208777" "subst" "0.000118181" "01804" "ITSN1_000002" "g.35208777G>A" "" "" "" "ITSN1(NM_001001132.1):c.3502G>A (p.(Ala1168Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33836473G>A" "" "VUS" "" "0000570581" "0" "50" "21" "35169810" "35169810" "subst" "8.12183E-6" "01943" "ITSN1_000003" "g.35169810G>A" "" "" "" "ITSN1(NM_001331010.1):c.2080G>A (p.E694K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33797506G>A" "" "VUS" "" "0000570582" "0" "50" "21" "35254584" "35254584" "subst" "8.12427E-6" "01943" "ITSN1_000004" "g.35254584C>T" "" "" "" "ITSN1(NM_001331010.1):c.4364C>T (p.P1455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33882280C>T" "" "VUS" "" "0000618340" "0" "50" "21" "35237582" "35237582" "subst" "0" "01943" "ITSN1_000005" "g.35237582G>A" "" "" "" "ITSN1(NM_003024.2):c.4018G>A (p.A1340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33865278G>A" "" "VUS" "" "0000618341" "0" "30" "21" "35247711" "35247711" "subst" "4.06058E-6" "01943" "ITSN1_000006" "g.35247711C>T" "" "" "" "ITSN1(NM_003024.2):c.4227C>T (p.A1409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33875407C>T" "" "likely benign" "" "0000618342" "0" "30" "21" "35260601" "35260601" "subst" "9.4955E-5" "01943" "ITSN1_000007" "g.35260601G>A" "" "" "" "ITSN1(NM_001331010.1):c.5148G>A (p.P1716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33888297G>A" "" "likely benign" "" "0000681711" "0" "50" "21" "35138243" "35138243" "subst" "0" "01943" "ITSN1_000008" "g.35138243C>A" "" "" "" "ITSN1(NM_001331010.1):c.853C>A (p.L285I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681712" "0" "50" "21" "35237511" "35237511" "subst" "0" "01804" "ITSN1_000009" "g.35237511G>C" "" "" "" "ITSN1(NM_003024.2):c.3947G>C (p.(Gly1316Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693039" "0" "30" "21" "35166782" "35166782" "subst" "0.000191469" "01943" "ITSN1_000010" "g.35166782C>T" "" "" "" "ITSN1(NM_001331010.1):c.1952+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727902" "0" "30" "21" "35134241" "35134241" "subst" "0" "01943" "ITSN1_000011" "g.35134241A>G" "" "" "" "ITSN1(NM_001331010.1):c.739A>G (p.T247A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727903" "0" "30" "21" "35239608" "35239608" "subst" "0.000495423" "01943" "ITSN1_000012" "g.35239608A>G" "" "" "" "ITSN1(NM_001331010.1):c.4131A>G (p.V1377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809381" "0" "30" "21" "35153814" "35153814" "subst" "0.00065098" "01943" "ITSN1_000013" "g.35153814A>G" "" "" "" "ITSN1(NM_001331010.1):c.1646A>G (p.N549S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809382" "0" "50" "21" "35208760" "35208760" "subst" "0" "01943" "ITSN1_000014" "g.35208760G>A" "" "" "" "ITSN1(NM_001331010.1):c.3470G>A (p.G1157E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817828" "3" "70" "21" "35107347" "35107347" "subst" "0" "00006" "ITSN1_000015" "g.35107347A>G" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.33735042A>G" "" "likely pathogenic (recessive)" "" "0000855956" "0" "10" "21" "35147382" "35147382" "subst" "0.00194837" "02326" "ITSN1_000016" "g.35147382C>T" "" "" "" "ITSN1(NM_003024.3):c.1566C>T (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855957" "0" "10" "21" "35186290" "35186290" "subst" "0.000925933" "02326" "ITSN1_000017" "g.35186290G>A" "" "" "" "ITSN1(NM_003024.3):c.2641G>A (p.V881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866623" "0" "30" "21" "35255846" "35255846" "subst" "0.00246097" "02326" "ITSN1_000018" "g.35255846C>A" "" "" "" "ITSN1(NM_003024.3):c.4555-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881128" "0" "70" "21" "35190685" "35190686" "del" "4.06062E-6" "02300" "ITSN1_000019" "g.35190685_35190686del" "" "{PMID:Marinakis 2021:34008892}" "" "c.2842_2843delAT" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "rs781063682" "0" "" "" "g.33818381_33818382del" "" "likely pathogenic (dominant)" "ACMG" "0000895464" "0" "30" "21" "35127721" "35127721" "subst" "0.000421992" "02326" "ITSN1_000020" "g.35127721T>G" "" "" "" "ITSN1(NM_003024.3):c.724+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895465" "0" "30" "21" "35138174" "35138174" "subst" "0.00138568" "02326" "ITSN1_000021" "g.35138174A>G" "" "" "" "ITSN1(NM_003024.3):c.789-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895466" "0" "30" "21" "35169692" "35169692" "subst" "0.00151092" "02326" "ITSN1_000022" "g.35169692G>A" "" "" "" "ITSN1(NM_003024.3):c.1962G>A (p.Q654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895467" "0" "30" "21" "35231013" "35231013" "subst" "0" "02326" "ITSN1_000023" "g.35231013G>A" "" "" "" "ITSN1(NM_003024.3):c.3807G>A (p.E1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895468" "0" "30" "21" "35247816" "35247816" "subst" "0.00215176" "02326" "ITSN1_000024" "g.35247816C>G" "" "" "" "ITSN1(NM_003024.3):c.4332C>G (p.G1444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895469" "0" "30" "21" "35255988" "35255988" "subst" "0.00154321" "02326" "ITSN1_000025" "g.35255988G>A" "" "" "" "ITSN1(NM_003024.3):c.4676+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915449" "0" "50" "21" "35255965" "35255965" "subst" "0" "02325" "ITSN1_000026" "g.35255965A>G" "" "" "" "ITSN1(NM_003024.3):c.4666A>G (p.I1556V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915450" "0" "30" "21" "35258631" "35258631" "subst" "0.000292488" "02326" "ITSN1_000027" "g.35258631G>A" "" "" "" "ITSN1(NM_003024.3):c.4884G>A (p.Q1628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927071" "0" "30" "21" "35247798" "35247798" "subst" "0.000178837" "02326" "ITSN1_000028" "g.35247798C>A" "" "" "" "ITSN1(NM_003024.3):c.4314C>A (p.A1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931216" "0" "30" "21" "35255987" "35255987" "subst" "0.000728436" "02326" "ITSN1_000029" "g.35255987C>T" "" "" "" "ITSN1(NM_003024.3):c.4676+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931217" "0" "30" "21" "35257792" "35257792" "subst" "0.000893423" "02326" "ITSN1_000030" "g.35257792T>C" "" "" "" "ITSN1(NM_003024.3):c.4809T>C (p.V1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951498" "0" "30" "21" "35140007" "35140007" "subst" "0.00131827" "02326" "ITSN1_000031" "g.35140007G>A" "" "" "" "ITSN1(NM_003024.3):c.927-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951499" "0" "30" "21" "35174762" "35174765" "del" "0" "02326" "ITSN1_000032" "g.35174762_35174765del" "" "" "" "ITSN1(NM_003024.3):c.2319+14_2319+17delAACT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951500" "0" "30" "21" "35206735" "35206735" "subst" "0.00173393" "02326" "ITSN1_000033" "g.35206735A>C" "" "" "" "ITSN1(NM_003024.3):c.3469+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983965" "0" "30" "21" "35229078" "35229078" "subst" "0.000730923" "01804" "ITSN1_000034" "g.35229078A>G" "" "" "" "ITSN1(NM_003024.3):c.3700A>G (p.(Thr1234Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983966" "0" "50" "21" "35260600" "35260600" "subst" "3.70367E-5" "01804" "ITSN1_000035" "g.35260600C>T" "" "" "" "ITSN1(NM_003024.3):c.5162C>T (p.(Pro1721Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005703" "0" "50" "21" "35134260" "35134260" "subst" "0" "01804" "ITSN1_000036" "g.35134260G>C" "" "" "" "ITSN1(NM_003024.2):c.758G>C (p.(Ser253Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005704" "0" "50" "21" "35134288" "35134288" "subst" "0" "01804" "ITSN1_000037" "g.35134288A>G" "" "" "" "ITSN1(NM_003024.2):c.786A>G (p.(Ile262Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005705" "0" "50" "21" "35140107" "35140107" "del" "0" "01804" "ITSN1_000038" "g.35140107del" "" "" "" "ITSN1(NM_003024.2):c.1017delA (p.(Gln339fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005706" "0" "50" "21" "35144596" "35144596" "subst" "2.50266E-5" "01804" "ITSN1_000039" "g.35144596A>C" "" "" "" "ITSN1(NM_003024.2):c.1274A>C (p.(Glu425Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005707" "0" "70" "21" "35147084" "35147084" "subst" "0" "01804" "ITSN1_000040" "g.35147084C>T" "" "" "" "ITSN1(NM_003024.2):c.1357C>T (p.(Arg453*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005708" "0" "50" "21" "35172141" "35172141" "subst" "4.06481E-5" "01804" "ITSN1_000041" "g.35172141G>A" "" "" "" "ITSN1(NM_003024.2):c.2212G>A (p.(Glu738Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005709" "0" "50" "21" "35202008" "35202008" "subst" "0" "01804" "ITSN1_000042" "g.35202008C>T" "" "" "" "ITSN1(NM_003024.2):c.3310C>T (p.(Arg1104*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005710" "0" "50" "21" "35208816" "35208816" "subst" "4.87393E-5" "01804" "ITSN1_000043" "g.35208816A>G" "" "" "" "ITSN1(NM_003024.2):c.3541A>G (p.(Ile1181Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005711" "0" "50" "21" "35230996" "35230996" "subst" "0" "01804" "ITSN1_000044" "g.35230996C>T" "" "" "" "ITSN1(NM_003024.2):c.3790C>T (p.(Gln1264*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005712" "0" "50" "21" "35247758" "35247758" "subst" "0" "01804" "ITSN1_000045" "g.35247758G>A" "" "" "" "ITSN1(NM_003024.2):c.4274G>A (p.(Arg1425Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005713" "0" "50" "21" "35257388" "35257388" "subst" "8.12282E-6" "01804" "ITSN1_000046" "g.35257388A>G" "" "" "" "ITSN1(NM_003024.2):c.4720A>G (p.(Ile1574Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030928" "0" "70" "21" "35191585" "35191585" "subst" "4.06524E-6" "03544" "ITSN1_000047" "g.35191585C>T" "" "" "" "" "" "Germline" "-" "rs1242902737" "0" "" "" "g.33819281C>T" "" "likely pathogenic" "ACMG" "0001043563" "0" "50" "21" "35153783" "35153783" "subst" "0" "01804" "ITSN1_000048" "g.35153783G>A" "" "" "" "ITSN1(NM_003024.3):c.1615G>A (p.(Gly539Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043564" "0" "50" "21" "35154316" "35154316" "subst" "0" "01804" "ITSN1_000049" "g.35154316T>G" "" "" "" "ITSN1(NM_003024.3):c.1703T>G (p.(Leu568Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043565" "0" "50" "21" "35166705" "35166705" "subst" "0" "02327" "ITSN1_000050" "g.35166705C>T" "" "" "" "" "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 ITSN1 ## Count = 50 "{{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}}" "0000328650" "00010236" "50" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Met67Ile)" "" "0000328651" "00010236" "50" "3502" "0" "3502" "0" "c.3502G>A" "r.(?)" "p.(Ala1168Thr)" "" "0000570581" "00010236" "50" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "0000570582" "00010236" "50" "4379" "0" "4379" "0" "c.4379C>T" "r.(?)" "p.(Pro1460Leu)" "" "0000618340" "00010236" "50" "4018" "0" "4018" "0" "c.4018G>A" "r.(?)" "p.(Ala1340Thr)" "" "0000618341" "00010236" "30" "4227" "0" "4227" "0" "c.4227C>T" "r.(?)" "p.(Ala1409=)" "" "0000618342" "00010236" "30" "5163" "0" "5163" "0" "c.5163G>A" "r.(?)" "p.(Pro1721=)" "" "0000681711" "00010236" "50" "853" "0" "853" "0" "c.853C>A" "r.(?)" "p.(Leu285Ile)" "" "0000681712" "00010236" "50" "3947" "0" "3947" "0" "c.3947G>C" "r.(?)" "p.(Gly1316Ala)" "" "0000693039" "00010236" "30" "1952" "10" "1952" "10" "c.1952+10C>T" "r.(=)" "p.(=)" "" "0000727902" "00010236" "30" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Thr247Ala)" "" "0000727903" "00010236" "30" "4146" "0" "4146" "0" "c.4146A>G" "r.(?)" "p.(Val1382=)" "" "0000809381" "00010236" "30" "1646" "0" "1646" "0" "c.1646A>G" "r.(?)" "p.(Asn549Ser)" "" "0000809382" "00010236" "50" "3485" "0" "3485" "0" "c.3485G>A" "r.(?)" "p.(Gly1162Glu)" "" "0000817828" "00010236" "70" "186" "-2" "186" "-2" "c.186-2A>G" "r.spl" "p.?" "" "0000855956" "00010236" "10" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Ala522=)" "" "0000855957" "00010236" "10" "2641" "0" "2641" "0" "c.2641G>A" "r.(?)" "p.(Val881Ile)" "" "0000866623" "00010236" "30" "4555" "-8" "4555" "-8" "c.4555-8C>A" "r.(=)" "p.(=)" "" "0000881128" "00010236" "70" "2842" "0" "2843" "0" "c.2842_2843del" "r.(?)" "p.(Met948ValfsTer41)" "" "0000895464" "00010236" "30" "724" "19" "724" "19" "c.724+19T>G" "r.(=)" "p.(=)" "" "0000895465" "00010236" "30" "789" "-5" "789" "-5" "c.789-5A>G" "r.spl?" "p.?" "" "0000895466" "00010236" "30" "1962" "0" "1962" "0" "c.1962G>A" "r.(?)" "p.(Gln654=)" "" "0000895467" "00010236" "30" "3807" "0" "3807" "0" "c.3807G>A" "r.(?)" "p.(Glu1269=)" "" "0000895468" "00010236" "30" "4332" "0" "4332" "0" "c.4332C>G" "r.(?)" "p.(Gly1444=)" "" "0000895469" "00010236" "30" "4676" "13" "4676" "13" "c.4676+13G>A" "r.(=)" "p.(=)" "" "0000915449" "00010236" "50" "4666" "0" "4666" "0" "c.4666A>G" "r.(?)" "p.(Ile1556Val)" "" "0000915450" "00010236" "30" "4884" "0" "4884" "0" "c.4884G>A" "r.(?)" "p.(Gln1628=)" "" "0000927071" "00010236" "30" "4314" "0" "4314" "0" "c.4314C>A" "r.(?)" "p.(Ala1438=)" "" "0000931216" "00010236" "30" "4676" "12" "4676" "12" "c.4676+12C>T" "r.(=)" "p.(=)" "" "0000931217" "00010236" "30" "4809" "0" "4809" "0" "c.4809T>C" "r.(?)" "p.(=)" "" "0000951498" "00010236" "30" "927" "-10" "927" "-10" "c.927-10G>A" "r.(=)" "p.(=)" "" "0000951499" "00010236" "30" "2319" "14" "2319" "17" "c.2319+14_2319+17del" "r.(=)" "p.(=)" "" "0000951500" "00010236" "30" "3469" "7" "3469" "7" "c.3469+7A>C" "r.(=)" "p.(=)" "" "0000983965" "00010236" "30" "3700" "0" "3700" "0" "c.3700A>G" "r.(?)" "p.(Thr1234Ala)" "" "0000983966" "00010236" "50" "5162" "0" "5162" "0" "c.5162C>T" "r.(?)" "p.(Pro1721Leu)" "" "0001005703" "00010236" "50" "758" "0" "758" "0" "c.758G>C" "r.(?)" "p.(Ser253Thr)" "" "0001005704" "00010236" "50" "786" "0" "786" "0" "c.786A>G" "r.(?)" "p.(Ile262Met)" "" "0001005705" "00010236" "50" "1017" "0" "1017" "0" "c.1017del" "r.(?)" "p.(Gln339Hisfs*4)" "" "0001005706" "00010236" "50" "1274" "0" "1274" "0" "c.1274A>C" "r.(?)" "p.(Glu425Ala)" "" "0001005707" "00010236" "70" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Arg453*)" "" "0001005708" "00010236" "50" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Glu738Lys)" "" "0001005709" "00010236" "50" "3310" "0" "3310" "0" "c.3310C>T" "r.(?)" "p.(Arg1104*)" "" "0001005710" "00010236" "50" "3541" "0" "3541" "0" "c.3541A>G" "r.(?)" "p.(Ile1181Val)" "" "0001005711" "00010236" "50" "3790" "0" "3790" "0" "c.3790C>T" "r.(?)" "p.(Gln1264*)" "" "0001005712" "00010236" "50" "4274" "0" "4274" "0" "c.4274G>A" "r.(?)" "p.(Arg1425Gln)" "" "0001005713" "00010236" "50" "4720" "0" "4720" "0" "c.4720A>G" "r.(?)" "p.(Ile1574Val)" "" "0001030928" "00010236" "70" "2974" "0" "2974" "0" "c.2974C>T" "r.(?)" "p.(Arg992*)" "24" "0001043563" "00010236" "50" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Arg)" "" "0001043564" "00010236" "50" "1703" "0" "1703" "0" "c.1703T>G" "r.(?)" "p.(Leu568Arg)" "" "0001043565" "00010236" "50" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000389035" "0000817828" "0000420769" "0000881128" "0000466893" "0001030928"