### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZMIZ1) # 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}}" "ZMIZ1" "zinc finger, MIZ-type containing 1" "10" "q22.3" "unknown" "NG_028289.1" "UD_132084529694" "" "https://www.LOVD.nl/ZMIZ1" "" "1" "16493" "57178" "607159" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ZMIZ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-10 20:02:20" "00006" "2025-08-25 15:55:16" ## 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}}" "00023201" "ZMIZ1" "zinc finger, MIZ-type containing 1" "001" "NM_020338.3" "" "NP_065071.1" "" "" "" "-572" "6983" "3204" "80828792" "81076285" "" "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}}" "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" "06097" "NEDDFSA" "Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" "AD" "618659" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZMIZ1" "06097" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00213112" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "M" "" "France" "" "0" "" "" "" "Carapito-Pat1" "00213113" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat2" "00213114" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat3" "00213115" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat4" "00213116" "" "" "" "3" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "M" "" "France" "" "0" "" "" "" "Carapito-Pat5" "00213117" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat6" "00213118" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat7" "00213119" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "M" "" "United States" "" "0" "" "" "" "Carapito-Pat8" "00213120" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat9" "00213121" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Carapito-Pat10" "00213122" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "M" "" "United States" "" "0" "" "" "" "Carapito-Pat11" "00213123" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "M" "" "Poland" "" "0" "" "" "" "Carapito-Pat12" "00213124" "" "" "" "3" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "2-generation family, affected girls and 2 brothers, mother hasID and bipolar disorder" "F" "" "United States" "" "0" "" "" "" "Carapito-FamPat13" "00213125" "" "" "00213124" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "brother" "M" "" "United States" "" "0" "" "" "" "Carapito-Pat14" "00213126" "" "" "00213124" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "2nd brother" "M" "" "United States" "" "0" "" "" "" "Carapito-Pat15" "00213127" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "France" "" "0" "" "" "" "Carapito-Pat16" "00213128" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "United States" "" "0" "" "" "" "Carapito-Pat17" "00213129" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "France" "" "0" "" "" "" "Carapito-Pat18" "00213130" "" "" "" "1" "" "00006" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "F" "" "France" "" "0" "" "" "" "Carapito-Pat19" "00289431" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00315939" "" "" "" "1" "" "00006" "{PMID:Cordova-Fletes 2015:26163108}" "" "F" "" "Mexico" "" "0" "" "" "" "patient" "00363893" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00391867" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "048P" "00393167" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "187943" "00464577" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466370" "" "" "" "1" "" "04653" "Pending" "" "M" "" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00213112" "00198" "00213113" "00198" "00213114" "00198" "00213115" "00198" "00213116" "00198" "00213117" "00198" "00213118" "00198" "00213119" "00198" "00213120" "00198" "00213121" "00198" "00213122" "00198" "00213123" "00198" "00213124" "00198" "00213125" "00198" "00213126" "00198" "00213127" "00198" "00213128" "00198" "00213129" "00198" "00213130" "00198" "00289431" "00198" "00315939" "00139" "00363893" "00198" "00391867" "00139" "00393167" "05611" "00464577" "00198" "00466370" "06097" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06097 ## Count = 25 "{{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}}" "0000161591" "00198" "00213112" "00006" "Isolated (sporadic)" "11y8m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161592" "00198" "00213113" "00006" "Isolated (sporadic)" "12y3m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161593" "00198" "00213114" "00006" "Isolated (sporadic)" "12y3m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161594" "00198" "00213115" "00006" "Isolated (sporadic)" "1y6m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161595" "00198" "00213116" "00006" "Isolated (sporadic)" "5y9m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161596" "00198" "00213117" "00006" "Isolated (sporadic)" "20y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161597" "00198" "00213118" "00006" "Isolated (sporadic)" "3y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161598" "00198" "00213119" "00006" "Isolated (sporadic)" "6y7m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161599" "00198" "00213120" "00006" "Isolated (sporadic)" "8y6m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161600" "00198" "00213121" "00006" "Isolated (sporadic)" "19y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161601" "00198" "00213122" "00006" "Isolated (sporadic)" "1y4m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161602" "00198" "00213123" "00006" "Isolated (sporadic)" "3y6m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161603" "00198" "00213124" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161604" "00198" "00213125" "00006" "Isolated (sporadic)" "10y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161605" "00198" "00213126" "00006" "Isolated (sporadic)" "11y8m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161606" "00198" "00213127" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161607" "00198" "00213128" "00006" "Isolated (sporadic)" "12y3m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161608" "00198" "00213129" "00006" "Isolated (sporadic)" "17y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000161609" "00198" "00213130" "00006" "Isolated (sporadic)" "2y9m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability, developmental delay" "" "0000223043" "00198" "00289431" "01807" "Unknown" "" "Brachydactyly (HP:0001156); Hip dysplasia (HP:0001385); Obesity (HP:0001513); Abnormal heart morphology (HP:0001627); Mitral regurgitation (HP:0001653); Hyperlordosis (HP:0003307); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000239684" "00139" "00315939" "00006" "Isolated (sporadic)" "11y" "see paper; ..., intellectual disability; 1w-seizures since 1st week of age; no hypotonia, no hypertonia; normal gait; anxiety, poor visual contact, short attention span, lack of social sharing; no iris abnormality, no coloboma; synophrys, myopia, strabismus; long philtrum; bilateral pes varus; hypertrichosis, abundant gray hair, persistence of fingerpads; no family history" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000259231" "00198" "00363893" "01807" "Unknown" "" "Autistic behavior (HP:0000729); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263); Congenital microcephaly (HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000286407" "05611" "00393167" "01164" "Isolated (sporadic)" "05y" "Global developmental delay, Macrocephaly, Hypertelorism, Wide nasal base" "" "" "" "" "" "" "" "" "NEDDFSA" "neurodevelopmental delay" "" "0000350563" "00198" "00464577" "03544" "Isolated (sporadic)" "" "HP:0011577, HP:0006695, HP:0001627, HP:0010307, HP:0001518, HP:0001510, HP:0040119, HP:0000271, HP:0000431, HP:0000385, HP:0009906, HP:0008050, HP:0200007, HP:0000637, HP:0000343" "" "" "" "" "" "" "" "" "NEDDFSA" "multiple congenital abnormalities" "" "0000351734" "06097" "00466370" "04653" "Isolated (sporadic)" "" "Motor delay \r\nJoint laxity\r\nGenu recurvatum\r\nGeneralized hypotonia" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" "Atypic myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000214187" "00213112" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214188" "00213113" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214189" "00213114" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214190" "00213115" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214191" "00213116" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214192" "00213117" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214193" "00213118" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214194" "00213119" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214195" "00213120" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214196" "00213121" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214197" "00213122" "1" "00006" "00006" "2019-01-10 21:52:18" "00006" "2019-01-11 07:36:50" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000214198" "00213123" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214199" "00213124" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214200" "00213125" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214201" "00213126" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214202" "00213127" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214203" "00213128" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214204" "00213129" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214205" "00213130" "1" "00006" "00006" "2019-01-10 21:52:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000290601" "00289431" "1" "01807" "01807" "2020-03-09 11:34:20" "" "" "SEQ" "DNA" "" "" "0000317121" "00315939" "1" "00006" "00006" "2020-10-30 15:23:09" "00006" "2020-10-30 15:30:50" "arraySNP;microscope;SEQ" "DNA;RNA" "" "" "0000365121" "00363893" "1" "01807" "01807" "2021-05-03 09:57:01" "" "" "SEQ" "DNA" "" "" "0000393109" "00391867" "1" "02494" "02494" "2021-11-19 12:44:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000394415" "00393167" "1" "01164" "01164" "2021-11-26 16:57:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000466217" "00464577" "1" "03544" "03544" "2025-03-31 09:17:40" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468034" "00466370" "1" "04653" "04653" "2025-08-25 13:38:16" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000214187" "ZMIZ1" "0000214188" "ZMIZ1" "0000214189" "ZMIZ1" "0000214190" "ZMIZ1" "0000214191" "ZMIZ1" "0000214192" "ZMIZ1" "0000214193" "ZMIZ1" "0000214194" "ZMIZ1" "0000214195" "ZMIZ1" "0000214196" "ZMIZ1" "0000214197" "ZMIZ1" "0000214198" "ZMIZ1" "0000214199" "ZMIZ1" "0000214200" "ZMIZ1" "0000214201" "ZMIZ1" "0000214202" "ZMIZ1" "0000214203" "ZMIZ1" "0000214204" "ZMIZ1" "0000214205" "ZMIZ1" "0000317121" "PRR12" "0000317121" "ZMIZ1" "0000394415" "ZMIZ1" ## 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 = 62 "{{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}}" "0000321642" "0" "50" "10" "81072430" "81072430" "subst" "4.06111E-6" "01804" "ZMIZ1_000001" "g.81072430T>C" "" "" "" "ZMIZ1(NM_020338.3):c.3128T>C (p.(Leu1043Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79312673T>C" "" "VUS" "" "0000349427" "0" "90" "10" "81052055" "81052055" "subst" "0" "02327" "ZMIZ1_000002" "g.81052055C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79292298C>T" "" "pathogenic" "" "0000446123" "0" "90" "10" "81052055" "81052055" "subst" "0" "00006" "ZMIZ1_000002" "g.81052055C>T" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79292298C>T" "" "pathogenic (dominant)" "" "0000446124" "0" "90" "10" "81052015" "81052015" "subst" "0" "00006" "ZMIZ1_000003" "g.81052015G>A" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79292258G>A" "" "pathogenic (dominant)" "" "0000446125" "0" "90" "10" "81072414" "81072414" "dup" "0" "00006" "ZMIZ1_000004" "g.81072414dup" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "3112dupA" "" "De novo" "" "" "0" "" "" "g.79312657dup" "" "pathogenic (dominant)" "" "0000446126" "0" "90" "10" "81052055" "81052055" "subst" "0" "00006" "ZMIZ1_000002" "g.81052055C>T" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79292298C>T" "" "pathogenic (dominant)" "" "0000446127" "0" "90" "10" "81052049" "81052049" "subst" "0" "00006" "ZMIZ1_000005" "g.81052049C>T" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79292292C>T" "" "pathogenic (dominant)" "" "0000446128" "0" "90" "10" "81067251" "81067251" "dup" "0" "00006" "ZMIZ1_000006" "g.81067251dup" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "2752dupC" "" "De novo" "" "" "0" "" "" "g.79307494dup" "" "pathogenic (dominant)" "" "0000446129" "0" "90" "10" "80976023" "80976023" "subst" "0" "00006" "ZMIZ1_000007" "g.80976023A>G" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79216266A>G" "" "pathogenic (dominant)" "" "0000446130" "0" "90" "10" "81066043" "81066043" "subst" "0" "00006" "ZMIZ1_000008" "g.81066043C>T" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79306286C>T" "" "pathogenic (dominant)" "" "0000446131" "0" "90" "10" "81052043" "81052043" "subst" "0" "00006" "ZMIZ1_000009" "g.81052043C>A" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79292286C>A" "" "pathogenic (dominant)" "" "0000446132" "0" "90" "10" "81056383" "81056383" "dup" "0" "00006" "ZMIZ1_000014" "g.81056383dup" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "1386dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.79296626dup" "" "pathogenic (dominant)" "" "0000446133" "0" "90" "10" "81072397" "81072397" "subst" "0" "00006" "ZMIZ1_000010" "g.81072397A>G" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79312640A>G" "" "pathogenic (dominant)" "" "0000446134" "0" "90" "10" "81070866" "81070866" "del" "0" "00006" "ZMIZ1_000011" "g.81070866del" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "3021delC" "" "De novo" "" "" "0" "" "" "g.79311109del" "" "pathogenic (dominant)" "" "0000446135" "0" "90" "10" "81056383" "81056383" "dup" "0" "00006" "ZMIZ1_000014" "g.81056383dup" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "1386dupC" "" "De novo" "" "" "0" "" "" "g.79296626dup" "" "pathogenic (dominant)" "" "0000446136" "0" "90" "10" "81056383" "81056383" "dup" "0" "00006" "ZMIZ1_000014" "g.81056383dup" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "1386dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.79296626dup" "" "pathogenic (dominant)" "" "0000446137" "0" "90" "10" "81056383" "81056383" "dup" "0" "00006" "ZMIZ1_000014" "g.81056383dup" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "1386dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.79296626dup" "" "pathogenic (dominant)" "" "0000446138" "0" "90" "10" "81052043" "81052043" "subst" "0" "00006" "ZMIZ1_000012" "g.81052043C>T" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.79292286C>T" "" "pathogenic (dominant)" "" "0000446139" "0" "90" "10" "81067328" "81067328" "del" "0" "00006" "ZMIZ1_000013" "g.81067328del" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "2835delT" "" "De novo" "" "" "0" "" "" "g.79307571del" "" "pathogenic (dominant)" "" "0000446140" "0" "90" "10" "0" "0" "" "0" "00006" "ZMIZ1_000017" "g.80552344_qterdelins[NC_000023.10:143274161_qter]" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "46,XX,t(X;10)(q27;q23)" "" "" "pathogenic (dominant)" "" "0000446141" "0" "90" "10" "0" "0" "" "0" "00006" "ZMIZ1_000015" "g.81010866_qterdelins[NC_000012.11:128533517_qter]" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "De novo" "" "" "0" "" "46,XX,t(10;12)(q22.2;q24.3)" "" "" "pathogenic (dominant)" "" "0000446144" "0" "90" "10" "0" "0" "" "0" "00006" "ZMIZ1_000016" "g.[NC_000012.11:128533509_qter]delins81010871_qter" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "DUPLICATE record" "" "" "0" "" "46,XX,t(10;12)(q22.2;q24.3)" "" "" "pathogenic (dominant)" "" "0000446147" "0" "90" "10" "0" "0" "" "0" "00006" "ZMIZ1_000017" "g.[NC_000023.10:143274163_qter]delins80552344_pter" "" "{PMID:Carapito 2019:30639322}, {DOI:Carapito 2019:10.1016/j.ajhg.2018.12.007}" "" "" "" "DUPLICATE record" "" "" "0" "" "46,XX,t(X;10)(q27;q23)" "" "" "pathogenic (dominant)" "" "0000612691" "0" "50" "10" "81049587" "81049587" "subst" "0" "01804" "ZMIZ1_000018" "g.81049587C>T" "" "" "" "ZMIZ1(NM_020338.3):c.481C>T (p.(Pro161Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79289830C>T" "" "VUS" "" "0000612692" "0" "50" "10" "81052014" "81052046" "del" "0" "01804" "ZMIZ1_000019" "g.81052014_81052046del" "" "" "" "ZMIZ1(NM_020338.3):c.854_886del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79292257_79292289del" "" "VUS" "" "0000612693" "0" "50" "10" "81056304" "81056304" "subst" "0" "02327" "ZMIZ1_000020" "g.81056304C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79296547C>T" "" "VUS" "" "0000647287" "0" "70" "10" "81064941" "81064941" "subst" "0" "01807" "ZMIZ1_000021" "g.81064941C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.79305184C>G" "" "likely pathogenic" "" "0000656574" "0" "90" "10" "81065354" "81065354" "subst" "0" "02325" "ZMIZ1_000022" "g.81065354C>T" "" "" "" "ZMIZ1(NM_020338.4):c.2419C>T (p.Q807*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79305597C>T" "" "pathogenic" "" "0000699317" "0" "90" "10" "0" "0" "" "0" "00006" "ZMIZ1_000023" "g.(80976032_81036937)_gterdelinsNC_000019.9:g.(50124880_50128100)_qter" "" "{PMID:Cordova-Fletes 2015:26163108}" "" "" "" "De novo" "" "" "0" "" "46,XX,t(10;19)(q22.3;q13.33)" "g.(79216275_79277180)_gterdelinsNC_000019.9:g.(49621623_49624843)_qter" "" "pathogenic" "" "0000766078" "0" "70" "10" "81052041" "81052052" "del" "0" "01807" "ZMIZ1_000024" "g.81052041_81052052del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.79292284_79292295del" "" "likely pathogenic" "" "0000823723" "0" "50" "10" "81067332" "81067332" "subst" "0" "02494" "ZMIZ1_000025" "g.81067332A>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000825330" "0" "70" "10" "81060700" "81060700" "subst" "0" "01164" "ZMIZ1_000026" "g.81060700G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000862001" "0" "70" "10" "81067241" "81067241" "del" "0" "02329" "ZMIZ1_000027" "g.81067241del" "" "" "" "ZMIZ1(NM_020338.4):c.2748delC (p.H916Qfs*91)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889261" "0" "30" "10" "80968205" "80968205" "subst" "2.04873E-5" "02325" "ZMIZ1_000028" "g.80968205C>T" "" "" "" "ZMIZ1(NM_020338.4):c.173C>T (p.T58M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889263" "0" "30" "10" "81053204" "81053204" "subst" "3.1937E-5" "02325" "ZMIZ1_000029" "g.81053204A>G" "" "" "" "ZMIZ1(NM_020338.4):c.1024A>G (p.M342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889264" "0" "50" "10" "81060604" "81060604" "subst" "0" "02325" "ZMIZ1_000030" "g.81060604G>A" "" "" "" "ZMIZ1(NM_020338.4):c.1924G>A (p.G642S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889265" "0" "70" "10" "81072452" "81072452" "dup" "0" "02329" "ZMIZ1_000031" "g.81072452dup" "" "" "" "ZMIZ1(NM_020338.4):c.3150dupC (p.D1051Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913337" "0" "50" "10" "81070684" "81070684" "subst" "8.23655E-6" "02325" "ZMIZ1_000032" "g.81070684C>T" "" "" "" "ZMIZ1(NM_020338.4):c.2839C>T (p.P947S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925197" "0" "70" "10" "81063906" "81063906" "subst" "0" "02327" "ZMIZ1_000033" "g.81063906C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000960059" "0" "50" "10" "81072452" "81072452" "dup" "0" "03779" "ZMIZ1_000031" "g.81072452dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000979176" "0" "30" "10" "81005593" "81005593" "subst" "0" "01804" "ZMIZ1_000034" "g.81005593T>C" "" "" "" "ZMIZ1(NM_020338.4):c.280+29562T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979177" "0" "50" "10" "81049554" "81049554" "subst" "1.21881E-5" "02325" "ZMIZ1_000035" "g.81049554T>G" "" "" "" "ZMIZ1(NM_020338.4):c.448T>G (p.S150A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979178" "0" "50" "10" "81049579" "81049579" "subst" "4.06207E-6" "01804" "ZMIZ1_000036" "g.81049579A>G" "" "" "" "ZMIZ1(NM_020338.4):c.473A>G (p.(Asn158Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979179" "0" "70" "10" "81053342" "81053342" "subst" "0" "01804" "ZMIZ1_000037" "g.81053342C>T" "" "" "" "ZMIZ1(NM_020338.4):c.1162C>T (p.(Gln388Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979180" "0" "30" "10" "81065854" "81065854" "subst" "4.13196E-6" "01804" "ZMIZ1_000038" "g.81065854C>A" "" "" "" "ZMIZ1(NM_020338.4):c.2424-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979181" "0" "50" "10" "81067267" "81067267" "subst" "8.17067E-6" "01804" "ZMIZ1_000039" "g.81067267C>T" "" "" "" "ZMIZ1(NM_020338.3):c.2774C>T (p.(Pro925Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998549" "0" "30" "10" "81050824" "81050824" "subst" "2.84322E-5" "01804" "ZMIZ1_000040" "g.81050824G>T" "" "" "" "ZMIZ1(NM_020338.3):c.649G>T (p.(Ala217Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998550" "0" "30" "10" "81050860" "81050860" "subst" "0" "01804" "ZMIZ1_000041" "g.81050860C>T" "" "" "" "ZMIZ1(NM_020338.3):c.685C>T (p.(Pro229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998551" "0" "30" "10" "81053361" "81053361" "subst" "2.50344E-5" "01804" "ZMIZ1_000042" "g.81053361G>A" "" "" "" "ZMIZ1(NM_020338.3):c.1181G>A (p.(Arg394Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998552" "0" "30" "10" "81056358" "81056358" "subst" "4.16088E-6" "01804" "ZMIZ1_000043" "g.81056358C>T" "" "" "" "ZMIZ1(NM_020338.3):c.1361C>T (p.(Pro454Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998553" "0" "50" "10" "81058226" "81058226" "subst" "1.25465E-5" "01804" "ZMIZ1_000044" "g.81058226C>G" "" "" "" "ZMIZ1(NM_020338.3):c.1555C>G (p.(Pro519Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998554" "0" "50" "10" "81061907" "81061907" "subst" "0" "01804" "ZMIZ1_000045" "g.81061907G>A" "" "" "" "ZMIZ1(NM_020338.3):c.2063G>A (p.(Arg688His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998555" "0" "30" "10" "81065882" "81065882" "subst" "2.46216E-5" "01804" "ZMIZ1_000046" "g.81065882G>A" "" "" "" "ZMIZ1(NM_020338.3):c.2449G>A (p.(Asp817Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998556" "0" "30" "10" "81067261" "81067261" "subst" "0" "01804" "ZMIZ1_000047" "g.81067261A>C" "" "" "" "ZMIZ1(NM_020338.3):c.2768A>C (p.(His923Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025771" "0" "50" "10" "81072496" "81072496" "subst" "0" "02329" "ZMIZ1_000048" "g.81072496A>G" "" "" "" "ZMIZ1(NM_020338.4):c.3194A>G (p.E1065G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030120" "0" "70" "10" "81052037" "81052037" "subst" "0" "03544" "ZMIZ1_000049" "g.81052037C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.79292280C>T" "" "pathogenic" "ACMG" "0001038042" "0" "50" "10" "80961376" "80961376" "subst" "0" "01804" "ZMIZ1_000050" "g.80961376G>A" "" "" "" "ZMIZ1(NM_020338.4):c.-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038045" "0" "30" "10" "81052034" "81052034" "subst" "1.24844E-5" "01804" "ZMIZ1_000051" "g.81052034C>T" "" "" "" "ZMIZ1(NM_020338.4):c.878C>T (p.(Ala293Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038046" "0" "50" "10" "81053153" "81053153" "subst" "0" "01804" "ZMIZ1_000052" "g.81053153G>C" "" "" "" "ZMIZ1(NM_020338.4):c.973G>C (p.(Ala325Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038047" "0" "30" "10" "81057418" "81057418" "subst" "0.000223356" "01804" "ZMIZ1_000053" "g.81057418A>G" "" "" "" "ZMIZ1(NM_020338.4):c.1462A>G (p.(Ser488Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038048" "0" "30" "10" "81058155" "81058155" "subst" "4.25883E-6" "01804" "ZMIZ1_000054" "g.81058155C>G" "" "" "" "ZMIZ1(NM_020338.4):c.1492-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047493" "0" "70" "10" "81058953" "81058953" "subst" "0" "04653" "ZMIZ1_000055" "g.81058953G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.79299196G>A" "" "likely pathogenic (dominant)" "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 ZMIZ1 ## Count = 62 "{{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}}" "0000321642" "00023201" "50" "3128" "0" "3128" "0" "c.3128T>C" "r.(?)" "p.(Leu1043Pro)" "" "0000349427" "00023201" "90" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "" "0000446123" "00023201" "90" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "" "0000446124" "00023201" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "" "0000446125" "00023201" "90" "3112" "0" "3112" "0" "c.3112dup" "r.(?)" "p.(Thr1038Asnfs*4)" "" "0000446126" "00023201" "90" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "" "0000446127" "00023201" "90" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "" "0000446128" "00023201" "90" "2758" "0" "2758" "0" "c.2758dup" "r.(?)" "p.(Gln920Profs*34)" "" "0000446129" "00023201" "90" "272" "0" "272" "0" "c.272A>G" "r.(?)" "p.(Lys91Arg)" "" "0000446130" "00023201" "90" "2610" "0" "2610" "0" "c.2610C>T" "r.spl" "p.(Ser870=)" "" "0000446131" "00023201" "90" "887" "0" "887" "0" "c.887C>A" "r.(?)" "p.(Thr296Lys)" "" "0000446132" "00023201" "90" "1386" "0" "1386" "0" "c.1386dup" "r.(?)" "p.(Thr463Hisfs*14)" "" "0000446133" "00023201" "90" "3097" "-2" "3097" "-2" "c.3097-2A>G" "r.[3096_3097ins[3097-39_3097-3;gg],3096_3097ins[3097-11_3097-3;gg]]" "p.?" "" "0000446134" "00023201" "90" "3021" "0" "3021" "0" "c.3021del" "r.(?)" "p.(Phe1008Leufs*7)" "" "0000446135" "00023201" "90" "1386" "0" "1386" "0" "c.1386dup" "r.(?)" "p.(Thr463Hisfs*14)" "" "0000446136" "00023201" "90" "1386" "0" "1386" "0" "c.1386dup" "r.(?)" "p.(Thr463Hisfs*14)" "" "0000446137" "00023201" "90" "1386" "0" "1386" "0" "c.1386dup" "r.(?)" "p.(Thr463Hisfs*14)" "" "0000446138" "00023201" "90" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Thr296Ile)" "" "0000446139" "00023201" "90" "2835" "0" "2835" "0" "c.2835del" "r.(?)" "p.(Met946Cysfs*61)" "" "0000446140" "00023201" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1" "0000446141" "00023201" "90" "0" "" "0" "" "c.281-26073::?" "r.?" "p.?" "7i" "0000446144" "00023201" "90" "0" "" "0" "" "c.?::281-26067" "r.?" "p.?" "7i" "0000446147" "00023201" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1" "0000612691" "00023201" "50" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Pro161Ser)" "" "0000612692" "00023201" "50" "858" "0" "890" "0" "c.858_890del" "r.(?)" "p.(Ala287_Ala297del)" "" "0000612693" "00023201" "50" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Pro436Leu)" "" "0000647287" "00023201" "70" "2307" "0" "2307" "0" "c.2307C>G" "r.(?)" "p.(Tyr769Ter)" "" "0000656574" "00023201" "90" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Gln807Ter)" "" "0000699317" "00023201" "90" "281" "-1" "6983" "0" "c.(280+1_281-1)_*3779delins[NM_020719.1:c.(5721+1_5722-1)_*832]" "r.-572_280::[NM_020719.1:r.5722_*832]" "p.?" "7i" "0000766078" "00023201" "70" "885" "0" "896" "0" "c.885_896del" "r.(?)" "p.(Ala299_Thr302del)" "" "0000823723" "00023201" "50" "2835" "4" "2835" "4" "c.2835+4A>T" "r.(?)" "p.(?)" "" "0000825330" "00023201" "70" "2019" "1" "2019" "1" "c.2019+1G>A" "r.spl?" "p.?" "" "0000862001" "00023201" "70" "2748" "0" "2748" "0" "c.2748del" "r.(?)" "p.(His916Glnfs*91)" "" "0000889261" "00023201" "30" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0000889263" "00023201" "30" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Met342Val)" "" "0000889264" "00023201" "50" "1924" "0" "1924" "0" "c.1924G>A" "r.(?)" "p.(Gly642Ser)" "" "0000889265" "00023201" "70" "3150" "0" "3150" "0" "c.3150dup" "r.(?)" "p.(Asp1051Argfs*6)" "" "0000913337" "00023201" "50" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Pro947Ser)" "" "0000925197" "00023201" "70" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Arg754*)" "" "0000960059" "00023201" "50" "3150" "0" "3150" "0" "c.3150dup" "r.(?)" "p.(Asp1051ArgfsTer6)" "" "0000979176" "00023201" "30" "280" "29562" "280" "29562" "c.280+29562T>C" "r.(=)" "p.(=)" "" "0000979177" "00023201" "50" "448" "0" "448" "0" "c.448T>G" "r.(?)" "p.(Ser150Ala)" "" "0000979178" "00023201" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asn158Ser)" "" "0000979179" "00023201" "70" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "" "0000979180" "00023201" "30" "2424" "-3" "2424" "-3" "c.2424-3C>A" "r.spl?" "p.?" "" "0000979181" "00023201" "50" "2774" "0" "2774" "0" "c.2774C>T" "r.(?)" "p.(Pro925Leu)" "" "0000998549" "00023201" "30" "649" "0" "649" "0" "c.649G>T" "r.(?)" "p.(Ala217Ser)" "" "0000998550" "00023201" "30" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Pro229Ser)" "" "0000998551" "00023201" "30" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" "" "0000998552" "00023201" "30" "1361" "0" "1361" "0" "c.1361C>T" "r.(?)" "p.(Pro454Leu)" "" "0000998553" "00023201" "50" "1555" "0" "1555" "0" "c.1555C>G" "r.(?)" "p.(Pro519Ala)" "" "0000998554" "00023201" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688His)" "" "0000998555" "00023201" "30" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Asp817Asn)" "" "0000998556" "00023201" "30" "2768" "0" "2768" "0" "c.2768A>C" "r.(?)" "p.(His923Pro)" "" "0001025771" "00023201" "50" "3194" "0" "3194" "0" "c.3194A>G" "r.(?)" "p.(Glu1065Gly)" "" "0001030120" "00023201" "70" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Thr294Ile)" "11" "0001038042" "00023201" "50" "-14" "0" "-14" "0" "c.-14G>A" "r.(?)" "p.(=)" "" "0001038045" "00023201" "30" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Ala293Val)" "" "0001038046" "00023201" "50" "973" "0" "973" "0" "c.973G>C" "r.(?)" "p.(Ala325Pro)" "" "0001038047" "00023201" "30" "1462" "0" "1462" "0" "c.1462A>G" "r.(?)" "p.(Ser488Gly)" "" "0001038048" "00023201" "30" "1492" "-8" "1492" "-8" "c.1492-8C>G" "r.(=)" "p.(=)" "" "0001047493" "00023201" "70" "1808" "5" "1808" "5" "c.1808+5G>A" "r.spl?" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000214187" "0000446123" "0000214188" "0000446124" "0000214189" "0000446125" "0000214190" "0000446126" "0000214191" "0000446127" "0000214192" "0000446128" "0000214193" "0000446129" "0000214194" "0000446130" "0000214195" "0000446131" "0000214196" "0000446132" "0000214197" "0000446133" "0000214198" "0000446134" "0000214199" "0000446135" "0000214200" "0000446136" "0000214201" "0000446137" "0000214202" "0000446138" "0000214203" "0000446139" "0000214204" "0000446140" "0000214204" "0000446147" "0000214205" "0000446141" "0000214205" "0000446144" "0000290601" "0000647287" "0000317121" "0000699317" "0000365121" "0000766078" "0000393109" "0000823723" "0000394415" "0000825330" "0000466217" "0001030120" "0000468034" "0001047493"