### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIDINS220) # 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}}" "KIDINS220" "kinase D-interacting substrate, 220kDa" "2" "p24" "unknown" "NC_000002.11" "UD_132378855331" "" "http://www.LOVD.nl/KIDINS220" "" "1" "29508" "57498" "615759" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIDINS220_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-01 09:58:54" "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}}" "00010572" "KIDINS220" "kinase D-interacting substrate, 220kDa" "001" "NM_020738.2" "" "NP_065789.1" "" "" "" "-182" "7179" "5316" "8977755" "8868987" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00307" "HYDRO" "hydrocephaly (HYDRO)" "" "" "" "" "" "00006" "2014-01-19 12:32:13" "00006" "2015-12-07 07:11:25" "05148" "SINO" "SINO syndrome (spastic paraplegia, intellectual disability, nystagmus, and obesity)" "" "" "" "" "" "00006" "2016-04-01 10:04:21" "" "" "06465" "SINO" "Spastic paraplegia, intellectual disability, nystagmus, and obesity" "AD" "617296" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KIDINS220" "05148" "KIDINS220" "06465" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00060315" "" "" "" "1" "" "01563" "{PMID:Josifova 2016:27005418}, {DOI:Josifova 2016:10.1093/hmg/ddw082}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00060316" "" "" "" "1" "" "01563" "{PMID:Josifova 2016:27005418}, {DOI:Josifova 2016:10.1093/hmg/ddw082}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00060317" "" "" "" "1" "" "01563" "{PMID:Josifova 2016:27005418}, {DOI:Josifova 2016:10.1093/hmg/ddw082}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00248487" "" "" "" "4" "" "00006" "{PMID:Mero 2017:28934391}" "2-generation family, 4 affected fetuses, unaffected heterozygous carrier parents (first cousins)" "" "yes" "Norway" "" "0" "" "" "" "family" "00248489" "" "" "" "1" "" "00006" "{PMID:Yang 2018:29667355}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "Asian" "FamPatIII1" "00433321" "" "" "" "3" "" "00006" "{PMID:Jacquemin 2023:36859317}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam16Pat1/2/3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00060315" "05148" "00060316" "05148" "00060317" "05148" "00248487" "00198" "00248489" "00198" "00433321" "00307" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00307, 05148, 06465 ## Count = 6 "{{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}}" "0000046798" "05148" "00060315" "01563" "Isolated (sporadic)" "" "spastic paraplegia (HP:0001258), intellectual disability (HP:0001249), nystagmus (HP:0000639), obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "" "" "0000046799" "05148" "00060316" "01563" "Isolated (sporadic)" "" "spastic paraplegia (HP:0001258), intellectual disability (HP:0001249), nystagmus (HP:0000639), obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "" "" "0000046800" "05148" "00060317" "01563" "Isolated (sporadic)" "" "spastic paraplegia (HP:0001258), intellectual disability (HP:0001249), nystagmus (HP:0000639), obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "" "" "0000187477" "00198" "00248487" "00006" "Familial, autosomal recessive" "" "see paper; ..., limb contractures (3/3), hydrocephalus/dilated cerebral ventricles (3/4), small cerebellum (3/3), corpus callosum agenesis (1/3)" "" "" "" "" "" "" "" "" "" "cerebral ventriculomegaly, limb contractures" "" "0000187479" "00198" "00248489" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "SINO" "spastic paraplegia, obesity" "" "0000323842" "00307" "00433321" "00006" "Familial, autosomal recessive" "" "hydrocephaly" "" "" "" "" "" "" "" "" "" "hydrocephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000060304" "00060315" "1" "01563" "01563" "2016-04-01 09:25:50" "00006" "2016-04-01 10:19:20" "RT-PCR;SEQ;SEQ-NG-S" "DNA;RNA" "" "" "0000060305" "00060316" "1" "01563" "01563" "2016-04-01 09:46:41" "" "" "SEQ-NG-S" "DNA" "" "" "0000060306" "00060317" "1" "01563" "01563" "2016-04-01 09:49:39" "" "" "SEQ-NG-S" "DNA" "" "" "0000249591" "00248487" "1" "00006" "00006" "2019-07-24 15:32:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249593" "00248489" "1" "00006" "00006" "2019-07-24 15:54:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434775" "00433321" "1" "00006" "00006" "2023-03-04 19:42:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000249591" "KIDINS220" "0000249593" "KIDINS220" ## 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 = 71 "{{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}}" "0000091324" "0" "90" "2" "8873577" "8873577" "subst" "0" "01563" "KIDINS220_000001" "g.8873577C>T" "" "{PMID:Josifova 2016:27005418}, {DOI:Josifova 2016:10.1093/hmg/ddw082}" "" "" "transcript escapes NMD, detectable truncated protein" "De novo" "" "" "0" "" "" "g.8733447C>T" "" "pathogenic" "" "0000091325" "0" "90" "2" "8872070" "8872070" "subst" "0" "01563" "KIDINS220_000002" "g.8872070G>A" "" "{PMID:Josifova 2016:27005418}, {DOI:Josifova 2016:10.1093/hmg/ddw082}" "" "" "" "De novo" "" "" "0" "" "" "g.8731940G>A" "" "pathogenic" "" "0000091326" "0" "90" "2" "8871648" "8871648" "dup" "0" "01563" "KIDINS220_000003" "g.8871648dup" "" "{PMID:Josifova 2016:27005418}, {DOI:Josifova 2016:10.1093/hmg/ddw082}" "" "" "" "De novo" "" "" "0" "" "" "g.8731518dup" "" "pathogenic" "" "0000252072" "0" "30" "2" "8877136" "8877136" "subst" "0.00303762" "02326" "KIDINS220_000006" "g.8877136A>G" "" "" "" "KIDINS220(NM_001348738.1):c.3529-7T>C, KIDINS220(NM_020738.2):c.3586-7T>C (p.(=)), KIDINS220(NM_020738.4):c.3586-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8737006A>G" "" "likely benign" "" "0000285793" "0" "10" "2" "8930128" "8930128" "subst" "0.000306348" "02326" "KIDINS220_000010" "g.8930128T>C" "" "" "" "KIDINS220(NM_020738.4):c.1503A>G (p.I501M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8789998T>C" "" "benign" "" "0000285794" "0" "10" "2" "8919276" "8919276" "subst" "0.000332455" "02326" "KIDINS220_000009" "g.8919276C>T" "" "" "" "KIDINS220(NM_020738.4):c.2371-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8779146C>T" "" "benign" "" "0000285795" "0" "30" "2" "8890333" "8890333" "subst" "0.0015926" "02326" "KIDINS220_000007" "g.8890333T>C" "" "" "" "KIDINS220(NM_020738.4):c.3323A>G (p.N1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8750203T>C" "" "likely benign" "" "0000285796" "0" "10" "2" "8873731" "8873731" "subst" "0.000996981" "02326" "KIDINS220_000005" "g.8873731G>C" "" "" "" "KIDINS220(NM_020738.4):c.3896C>G (p.A1299G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8733601G>C" "" "benign" "" "0000285797" "0" "10" "2" "8871289" "8871289" "subst" "1.21853E-5" "02326" "KIDINS220_000004" "g.8871289C>T" "" "" "" "KIDINS220(NM_020738.4):c.4877G>A (p.R1626Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8731159C>T" "" "benign" "" "0000290250" "0" "70" "2" "8910960" "8910960" "subst" "0" "01943" "KIDINS220_000008" "g.8910960G>A" "" "" "" "KIDINS220(NM_020738.3):c.2851C>T (p.R951*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8770830G>A" "" "likely pathogenic" "" "0000517065" "0" "30" "2" "8874842" "8874842" "subst" "0" "01943" "KIDINS220_000014" "g.8874842A>C" "" "" "" "KIDINS220(NM_020738.3):c.3759T>G (p.D1253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8734712A>C" "" "likely benign" "" "0000517068" "0" "30" "2" "8888086" "8888086" "subst" "0.00158888" "01943" "KIDINS220_000015" "g.8888086G>A" "" "" "" "KIDINS220(NM_020738.3):c.3459C>T (p.G1153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8747956G>A" "" "likely benign" "" "0000517078" "0" "50" "2" "8910799" "8910799" "subst" "0" "02327" "KIDINS220_000017" "g.8910799C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8770669C>A" "" "VUS" "" "0000517080" "0" "30" "2" "8918837" "8918837" "subst" "0" "02326" "KIDINS220_000019" "g.8918837T>C" "" "" "" "KIDINS220(NM_020738.4):c.2635A>G (p.R879G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8778707T>C" "" "likely benign" "" "0000517081" "0" "50" "2" "8926363" "8926363" "subst" "8.12883E-6" "02327" "KIDINS220_000020" "g.8926363G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8786233G>A" "" "VUS" "" "0000517082" "0" "30" "2" "8936931" "8936931" "subst" "0.00341167" "01943" "KIDINS220_000013" "g.8936931A>G" "" "" "" "KIDINS220(NM_001348738.1):c.1068T>C (p.D356=), KIDINS220(NM_020738.4):c.1068T>C (p.D356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8796801A>G" "" "likely benign" "" "0000517083" "0" "30" "2" "8938448" "8938448" "dup" "0" "02326" "KIDINS220_000021" "g.8938448dup" "" "" "" "KIDINS220(NM_020738.4):c.901-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8798318dup" "" "likely benign" "" "0000517084" "0" "30" "2" "8943183" "8943183" "subst" "0" "01943" "KIDINS220_000022" "g.8943183A>G" "" "" "" "KIDINS220(NM_020738.3):c.678T>C (p.N226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8803053A>G" "" "likely benign" "" "0000517086" "0" "30" "2" "8967109" "8967109" "subst" "0" "01943" "KIDINS220_000024" "g.8967109G>T" "" "" "" "KIDINS220(NM_020738.3):c.108+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8826979G>T" "" "likely benign" "" "0000578397" "3" "90" "2" "8890257" "8890266" "del" "0" "00006" "KIDINS220_000026" "g.8890257_8890266del" "" "{PMID:Mero 2017:28934391}" "" "" "" "Germline" "yes" "" "0" "" "" "g.8750127_8750136del" "" "pathogenic (recessive)" "" "0000578401" "0" "90" "2" "8871776" "8871777" "del" "0" "00006" "KIDINS220_000027" "g.8871776_8871777del" "" "{PMID:Yang 2018:29667355}" "" "c.4389_c.4390delAG" "" "De novo" "" "" "0" "" "" "g.8731646_8731647del" "" "pathogenic (dominant)" "" "0000608146" "0" "50" "2" "8890270" "8890270" "subst" "2.03345E-5" "01943" "KIDINS220_000029" "g.8890270G>A" "" "" "" "KIDINS220(NM_001348738.1):c.3386C>T (p.T1129M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8750140G>A" "" "VUS" "" "0000608148" "0" "70" "2" "8891687" "8891688" "ins" "0" "01804" "KIDINS220_000031" "g.8891687_8891688insCTGTGAA" "" "" "" "KIDINS220(NM_020738.2):c.3102_3103insCAGTTCA (p.(Arg1035GlnfsTer54))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8751557_8751558insCTGTGAA" "" "likely pathogenic" "" "0000608150" "0" "30" "2" "8930170" "8930170" "subst" "1.34715E-5" "01943" "KIDINS220_000032" "g.8930170G>A" "" "" "" "KIDINS220(NM_001348738.1):c.1461C>T (p.A487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8790040G>A" "" "likely benign" "" "0000608151" "0" "50" "2" "8938391" "8938391" "subst" "0" "01943" "KIDINS220_000033" "g.8938391T>C" "" "" "" "KIDINS220(NM_020738.3):c.940A>G (p.N314D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8798261T>C" "" "VUS" "" "0000621128" "0" "50" "2" "8871674" "8871674" "subst" "0" "02325" "KIDINS220_000028" "g.8871674C>T" "" "" "" "KIDINS220(NM_001348729.2):c.4495G>A (p.E1499K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8731544C>T" "" "VUS" "" "0000621130" "0" "50" "2" "8891647" "8891647" "subst" "1.22127E-5" "01943" "KIDINS220_000030" "g.8891647A>G" "" "" "" "KIDINS220(NM_001348738.1):c.3139T>C (p.F1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8751517A>G" "" "VUS" "" "0000654734" "0" "70" "2" "8871656" "8871656" "subst" "0" "02327" "KIDINS220_000034" "g.8871656G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8731526G>A" "" "likely pathogenic" "" "0000654735" "0" "50" "2" "8872102" "8872102" "subst" "1.39543E-5" "01943" "KIDINS220_000035" "g.8872102C>T" "" "" "" "KIDINS220(NM_001348729.1):c.4067G>A (p.R1356H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8731972C>T" "" "VUS" "" "0000676733" "0" "50" "2" "8873707" "8873707" "subst" "4.47045E-5" "01943" "KIDINS220_000036" "g.8873707C>T" "" "" "" "KIDINS220(NM_001348738.1):c.3863G>A (p.R1288H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676742" "0" "30" "2" "8940548" "8940548" "subst" "1.22323E-5" "01943" "KIDINS220_000037" "g.8940548A>G" "" "" "" "KIDINS220(NM_001348738.1):c.882T>C (p.D294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676743" "0" "30" "2" "8953411" "8953411" "subst" "0.000170915" "01943" "KIDINS220_000038" "g.8953411C>G" "" "" "" "KIDINS220(NM_001348738.1):c.361G>C (p.E121Q), KIDINS220(NM_020738.2):c.361G>C (p.(Glu121Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688871" "0" "50" "2" "8946397" "8946400" "del" "0" "02327" "KIDINS220_000039" "g.8946397_8946400del" "" "" "" "KIDINS220(NM_020738.4):c.603+4_603+7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719088" "0" "30" "2" "8877136" "8877136" "subst" "0.00303762" "01943" "KIDINS220_000006" "g.8877136A>G" "" "" "" "KIDINS220(NM_001348738.1):c.3529-7T>C, KIDINS220(NM_020738.2):c.3586-7T>C (p.(=)), KIDINS220(NM_020738.4):c.3586-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719089" "0" "50" "2" "8928779" "8928779" "subst" "0" "01943" "KIDINS220_000040" "g.8928779C>T" "" "" "" "KIDINS220(NM_001348738.1):c.1785G>A (p.V595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719090" "0" "30" "2" "8934091" "8934091" "subst" "0.00200899" "02330" "KIDINS220_000012" "g.8934091A>G" "" "" "" "KIDINS220(NM_020738.4):c.1125T>C (p.A375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719091" "0" "30" "2" "8936931" "8936931" "subst" "0.00341167" "02330" "KIDINS220_000013" "g.8936931A>G" "" "" "" "KIDINS220(NM_001348738.1):c.1068T>C (p.D356=), KIDINS220(NM_020738.4):c.1068T>C (p.D356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800842" "0" "70" "2" "8873593" "8873593" "dup" "0" "02329" "KIDINS220_000041" "g.8873593dup" "" "" "" "KIDINS220(NM_001348738.2):c.3977dupA (p.H1326Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800845" "0" "30" "2" "8936977" "8936977" "subst" "3.24963E-5" "02325" "KIDINS220_000042" "g.8936977T>C" "" "" "" "KIDINS220(NM_020738.4):c.1022A>G (p.K341R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800846" "0" "30" "2" "8953414" "8953414" "subst" "0.000309192" "01943" "KIDINS220_000043" "g.8953414C>T" "" "" "" "KIDINS220(NM_001348738.1):c.358G>A (p.V120I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850062" "0" "50" "2" "8931339" "8931340" "dup" "0" "02329" "KIDINS220_000045" "g.8931339_8931340dup" "" "" "" "KIDINS220(NM_001348738.2):c.1291_1292dupAC (p.E432Lfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850063" "0" "90" "2" "8943224" "8943224" "del" "0" "02327" "KIDINS220_000046" "g.8943224del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850064" "0" "30" "2" "8958879" "8958879" "subst" "2.44994E-5" "01943" "KIDINS220_000047" "g.8958879C>T" "" "" "" "KIDINS220(NM_001348738.1):c.153G>A (p.L51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858720" "0" "50" "2" "8873605" "8873605" "subst" "0" "01943" "KIDINS220_000044" "g.8873605C>G" "" "" "" "KIDINS220(NM_001348738.1):c.3965G>C (p.G1322A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858721" "0" "30" "2" "8877136" "8877136" "subst" "0.00303762" "01804" "KIDINS220_000006" "g.8877136A>G" "" "" "" "KIDINS220(NM_001348738.1):c.3529-7T>C, KIDINS220(NM_020738.2):c.3586-7T>C (p.(=)), KIDINS220(NM_020738.4):c.3586-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885433" "0" "30" "2" "8936931" "8936931" "subst" "0.00341167" "02326" "KIDINS220_000013" "g.8936931A>G" "" "" "" "KIDINS220(NM_001348738.1):c.1068T>C (p.D356=), KIDINS220(NM_020738.4):c.1068T>C (p.D356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920646" "3" "90" "2" "8925956" "8925964" "del" "0" "00006" "KIDINS220_000048" "g.8925956_8925964del" "" "{PMID:Jacquemin 2023:36859317}" "" "" "ACMG PS3, PM2, PM4, PP1" "Germline" "yes" "" "0" "" "" "g.8785826_8785834del" "" "likely pathogenic (recessive)" "ACMG" "0000928661" "0" "50" "2" "8928817" "8928817" "subst" "0" "02325" "KIDINS220_000049" "g.8928817G>A" "" "" "" "KIDINS220(NM_020738.2):c.1747C>T (p.(Pro583Ser)), KIDINS220(NM_020738.4):c.1747C>T (p.P583S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928662" "0" "50" "2" "8946448" "8946448" "subst" "0" "02325" "KIDINS220_000050" "g.8946448C>G" "" "" "" "KIDINS220(NM_020738.4):c.556G>C (p.V186L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933306" "0" "30" "2" "8876997" "8876997" "subst" "0" "03779" "KIDINS220_000051" "g.8876997C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000962314" "0" "50" "2" "8871439" "8871439" "subst" "0.000125912" "02325" "KIDINS220_000052" "g.8871439G>A" "" "" "" "KIDINS220(NM_020738.4):c.4727C>T (p.A1576V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962316" "0" "10" "2" "8934091" "8934091" "subst" "0.00200899" "02326" "KIDINS220_000012" "g.8934091A>G" "" "" "" "KIDINS220(NM_020738.4):c.1125T>C (p.A375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975452" "0" "50" "2" "8910881" "8910881" "dup" "0" "01804" "KIDINS220_000053" "g.8910881dup" "" "" "" "KIDINS220(NM_020738.2):c.2930dupA (p.(Tyr977fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975453" "0" "30" "2" "8938326" "8938326" "subst" "4.48994E-5" "01804" "KIDINS220_000054" "g.8938326T>C" "" "" "" "KIDINS220(NM_020738.4):c.999+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993070" "0" "50" "2" "8870924" "8870924" "subst" "1.21836E-5" "01804" "KIDINS220_000055" "g.8870924C>A" "" "" "" "KIDINS220(NM_020738.2):c.5242G>T (p.(Asp1748Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993071" "0" "50" "2" "8871797" "8871797" "subst" "0.000235544" "01804" "KIDINS220_000056" "g.8871797C>A" "" "" "" "KIDINS220(NM_020738.2):c.4369G>T (p.(Val1457Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993072" "0" "30" "2" "8873672" "8873672" "subst" "0" "01804" "KIDINS220_000057" "g.8873672A>T" "" "" "" "KIDINS220(NM_020738.2):c.3955T>A (p.(Ser1319Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993074" "0" "50" "2" "8890307" "8890307" "subst" "0" "01804" "KIDINS220_000058" "g.8890307A>T" "" "" "" "KIDINS220(NM_020738.2):c.3349T>A (p.(Ser1117Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993075" "0" "30" "2" "8890423" "8890423" "subst" "0" "01804" "KIDINS220_000059" "g.8890423G>C" "" "" "" "KIDINS220(NM_020738.2):c.3233C>G (p.(Ala1078Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993076" "0" "50" "2" "8890460" "8890460" "subst" "1.85767E-5" "01804" "KIDINS220_000060" "g.8890460G>A" "" "" "" "KIDINS220(NM_020738.2):c.3196C>T (p.(Arg1066Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993077" "0" "30" "2" "8926100" "8926100" "subst" "2.86671E-5" "01804" "KIDINS220_000061" "g.8926100A>G" "" "" "" "KIDINS220(NM_020738.2):c.2000T>C (p.(Ile667Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993078" "0" "50" "2" "8928817" "8928817" "subst" "0" "01804" "KIDINS220_000049" "g.8928817G>A" "" "" "" "KIDINS220(NM_020738.2):c.1747C>T (p.(Pro583Ser)), KIDINS220(NM_020738.4):c.1747C>T (p.P583S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993079" "0" "30" "2" "8940525" "8940525" "subst" "1.25503E-5" "01804" "KIDINS220_000062" "g.8940525C>A" "" "" "" "KIDINS220(NM_020738.2):c.900+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993080" "0" "50" "2" "8943125" "8943125" "subst" "0" "01804" "KIDINS220_000063" "g.8943125C>G" "" "" "" "KIDINS220(NM_020738.2):c.736G>C (p.(Glu246Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993081" "0" "30" "2" "8946397" "8946397" "subst" "2.58196E-5" "01804" "KIDINS220_000064" "g.8946397T>C" "" "" "" "KIDINS220(NM_020738.2):c.603+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993082" "0" "30" "2" "8953411" "8953411" "subst" "0.000170915" "01804" "KIDINS220_000038" "g.8953411C>G" "" "" "" "KIDINS220(NM_001348738.1):c.361G>C (p.E121Q), KIDINS220(NM_020738.2):c.361G>C (p.(Glu121Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993083" "0" "30" "2" "8957759" "8957759" "subst" "0" "01804" "KIDINS220_000065" "g.8957759G>A" "" "" "" "KIDINS220(NM_020738.2):c.295C>T (p.(His99Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033516" "0" "50" "2" "8873587" "8873587" "subst" "0" "01804" "KIDINS220_000066" "g.8873587T>C" "" "" "" "KIDINS220(NM_020738.4):c.4040A>G (p.(Asn1347Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033520" "0" "50" "2" "8919227" "8919227" "subst" "1.2203E-5" "01804" "KIDINS220_000067" "g.8919227C>T" "" "" "" "KIDINS220(NM_020738.4):c.2413G>A (p.(Ala805Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033521" "0" "50" "2" "8946397" "8946400" "del" "0" "01804" "KIDINS220_000039" "g.8946397_8946400del" "" "" "" "KIDINS220(NM_020738.4):c.603+4_603+7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033522" "0" "30" "2" "8966053" "8966056" "del" "0" "01804" "KIDINS220_000068" "g.8966053_8966056del" "" "" "" "KIDINS220(NM_001348736.2):c.-189-12_-189-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KIDINS220 ## Count = 71 "{{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}}" "0000091324" "00010572" "90" "4050" "0" "4050" "0" "c.4050G>A" "r.4050g>a" "p.Trp1350*" "29" "0000091325" "00010572" "90" "4096" "0" "4096" "0" "c.4096C>T" "r.(?)" "p.(Gln1366*" "29" "0000091326" "00010572" "90" "4520" "0" "4520" "0" "c.4520dup" "r.(?)" "p.(Leu1507Phefs*4)" "30" "0000252072" "00010572" "30" "3586" "-7" "3586" "-7" "c.3586-7T>C" "r.(=)" "p.(=)" "" "0000285793" "00010572" "10" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Ile501Met)" "" "0000285794" "00010572" "10" "2371" "-7" "2371" "-7" "c.2371-7G>A" "r.(=)" "p.(=)" "" "0000285795" "00010572" "30" "3323" "0" "3323" "0" "c.3323A>G" "r.(?)" "p.(Asn1108Ser)" "" "0000285796" "00010572" "10" "3896" "0" "3896" "0" "c.3896C>G" "r.(?)" "p.(Ala1299Gly)" "" "0000285797" "00010572" "10" "4877" "0" "4877" "0" "c.4877G>A" "r.(?)" "p.(Arg1626Gln)" "" "0000290250" "00010572" "70" "2851" "0" "2851" "0" "c.2851C>T" "r.(?)" "p.(Arg951Ter)" "" "0000517065" "00010572" "30" "3759" "0" "3759" "0" "c.3759T>G" "r.(?)" "p.(Asp1253Glu)" "" "0000517068" "00010572" "30" "3459" "0" "3459" "0" "c.3459C>T" "r.(?)" "p.(Gly1153=)" "" "0000517078" "00010572" "50" "3011" "1" "3011" "1" "c.3011+1G>T" "r.spl?" "p.?" "" "0000517080" "00010572" "30" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Arg879Gly)" "" "0000517081" "00010572" "50" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638Ter)" "" "0000517082" "00010572" "30" "1068" "0" "1068" "0" "c.1068T>C" "r.(?)" "p.(Asp356=)" "" "0000517083" "00010572" "30" "901" "-11" "901" "-11" "c.901-11dup" "r.(=)" "p.(=)" "" "0000517084" "00010572" "30" "678" "0" "678" "0" "c.678T>C" "r.(?)" "p.(Asn226=)" "" "0000517086" "00010572" "30" "108" "7" "108" "7" "c.108+7C>A" "r.(=)" "p.(=)" "" "0000578397" "00010572" "90" "3394" "0" "3403" "0" "c.3394_3403del" "r.spl" "p.Gln1132Serfs*30" "" "0000578401" "00010572" "90" "4389" "0" "4390" "0" "c.4389_4390del" "r.(?)" "p.(Val1465Phefs*13)" "" "0000608146" "00010572" "50" "3386" "0" "3386" "0" "c.3386C>T" "r.(?)" "p.(Thr1129Met)" "" "0000608148" "00010572" "70" "3102" "0" "3103" "0" "c.3102_3103insCAGTTCA" "r.(?)" "p.(Arg1035GlnfsTer54)" "" "0000608150" "00010572" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ala487=)" "" "0000608151" "00010572" "50" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Asn314Asp)" "" "0000621128" "00010572" "50" "4492" "0" "4492" "0" "c.4492G>A" "r.(?)" "p.(Glu1498Lys)" "" "0000621130" "00010572" "50" "3139" "0" "3139" "0" "c.3139T>C" "r.(?)" "p.(Phe1047Leu)" "" "0000654734" "00010572" "70" "4510" "0" "4510" "0" "c.4510C>T" "r.(?)" "p.(Gln1504Ter)" "" "0000654735" "00010572" "50" "4064" "0" "4064" "0" "c.4064G>A" "r.(?)" "p.(Arg1355His)" "" "0000676733" "00010572" "50" "3920" "0" "3920" "0" "c.3920G>A" "r.(?)" "p.(Arg1307His)" "" "0000676742" "00010572" "30" "882" "0" "882" "0" "c.882T>C" "r.(?)" "p.(Asp294=)" "" "0000676743" "00010572" "30" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Glu121Gln)" "" "0000688871" "00010572" "50" "603" "4" "603" "7" "c.603+4_603+7del" "r.spl?" "p.?" "" "0000719088" "00010572" "30" "3586" "-7" "3586" "-7" "c.3586-7T>C" "r.(=)" "p.(=)" "" "0000719089" "00010572" "50" "1785" "0" "1785" "0" "c.1785G>A" "r.(?)" "p.(Val595=)" "" "0000719090" "00010572" "30" "1125" "0" "1125" "0" "c.1125T>C" "r.(?)" "p.(Ala375=)" "" "0000719091" "00010572" "30" "1068" "0" "1068" "0" "c.1068T>C" "r.(?)" "p.(Asp356=)" "" "0000800842" "00010572" "70" "4034" "0" "4034" "0" "c.4034dup" "r.(?)" "p.(His1345Glnfs*3)" "" "0000800845" "00010572" "30" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Lys341Arg)" "" "0000800846" "00010572" "30" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Val120Ile)" "" "0000850062" "00010572" "50" "1291" "0" "1292" "0" "c.1291_1292dup" "r.(?)" "p.(Glu432Leufs*49)" "" "0000850063" "00010572" "90" "638" "0" "638" "0" "c.638del" "r.(?)" "p.(Gly213Glufs*7)" "" "0000850064" "00010572" "30" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Leu51=)" "" "0000858720" "00010572" "50" "4022" "0" "4022" "0" "c.4022G>C" "r.(?)" "p.(Gly1341Ala)" "" "0000858721" "00010572" "30" "3586" "-7" "3586" "-7" "c.3586-7T>C" "r.(=)" "p.(=)" "" "0000885433" "00010572" "30" "1068" "0" "1068" "0" "c.1068T>C" "r.(?)" "p.(Asp356=)" "" "0000920646" "00010572" "90" "2137" "0" "2145" "0" "c.2137_2145del" "r.(?)" "p.(Gln713_Leu715del)" "" "0000928661" "00010572" "50" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Pro583Ser)" "" "0000928662" "00010572" "50" "556" "0" "556" "0" "c.556G>C" "r.(?)" "p.(Val186Leu)" "" "0000933306" "00010572" "30" "3717" "1" "3717" "1" "c.3717+1G>A" "r.(?)" "p.(?)" "" "0000962314" "00010572" "50" "4727" "0" "4727" "0" "c.4727C>T" "r.(?)" "p.(Ala1576Val)" "" "0000962316" "00010572" "10" "1125" "0" "1125" "0" "c.1125T>C" "r.(?)" "p.(Ala375=)" "" "0000975452" "00010572" "50" "2930" "0" "2930" "0" "c.2930dup" "r.(?)" "p.(Tyr977*)" "" "0000975453" "00010572" "30" "999" "6" "999" "6" "c.999+6A>G" "r.(=)" "p.(=)" "" "0000993070" "00010572" "50" "5242" "0" "5242" "0" "c.5242G>T" "r.(?)" "p.(Asp1748Tyr)" "" "0000993071" "00010572" "50" "4369" "0" "4369" "0" "c.4369G>T" "r.(?)" "p.(Val1457Phe)" "" "0000993072" "00010572" "30" "3955" "0" "3955" "0" "c.3955T>A" "r.(?)" "p.(Ser1319Thr)" "" "0000993074" "00010572" "50" "3349" "0" "3349" "0" "c.3349T>A" "r.(?)" "p.(Ser1117Thr)" "" "0000993075" "00010572" "30" "3233" "0" "3233" "0" "c.3233C>G" "r.(?)" "p.(Ala1078Gly)" "" "0000993076" "00010572" "50" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066Cys)" "" "0000993077" "00010572" "30" "2000" "0" "2000" "0" "c.2000T>C" "r.(?)" "p.(Ile667Thr)" "" "0000993078" "00010572" "50" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Pro583Ser)" "" "0000993079" "00010572" "30" "900" "5" "900" "5" "c.900+5G>T" "r.spl?" "p.?" "" "0000993080" "00010572" "50" "736" "0" "736" "0" "c.736G>C" "r.(?)" "p.(Glu246Gln)" "" "0000993081" "00010572" "30" "603" "4" "603" "4" "c.603+4A>G" "r.spl?" "p.?" "" "0000993082" "00010572" "30" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Glu121Gln)" "" "0000993083" "00010572" "30" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(His99Tyr)" "" "0001033516" "00010572" "50" "4040" "0" "4040" "0" "c.4040A>G" "r.(?)" "p.(Asn1347Ser)" "" "0001033520" "00010572" "50" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Ala805Thr)" "" "0001033521" "00010572" "50" "603" "4" "603" "7" "c.603+4_603+7del" "r.spl?" "p.?" "" "0001033522" "00010572" "30" "108" "1061" "108" "1064" "c.108+1061_108+1064del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000060304" "0000091324" "0000060305" "0000091325" "0000060306" "0000091326" "0000249591" "0000578397" "0000249593" "0000578401" "0000434775" "0000920646"