### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNM1) # 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}}" "DNM1" "dynamin 1" "9" "q34" "unknown" "NG_029726.1" "UD_132085397312" "" "https://www.LOVD.nl/DNM1" "" "1" "2972" "1759" "602377" "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/DNM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-10 11:00:56" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006594" "DNM1" "transcript variant 1" "002" "NM_004408.2" "" "NP_004399.2" "" "" "" "-87" "3129" "2595" "130965663" "131017527" "" "0000-00-00 00:00:00" "" "" "00025760" "DNM1" "transcript variant 5" "000" "NM_001288739.1" "" "NP_001275668.1" "" "" "" "-116" "3144" "2595" "130965634" "131017527" "00006" "2022-11-27 10:02:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "04449" "DEE31A;EIEE31" "developmental and epileptic encephalopathy, type 31A" "AD" "616346" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2024-11-11 21:51:31" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07120" "DEE31B" "developmental and epileptic encephalopathy, type 31B" "AR" "602377" "" "" "" "00006" "2024-11-11 21:52:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DNM1" "04449" "DNM1" "06906" "DNM1" "07120" ## 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}}" "00050373" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050579" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050582" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00089212" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "mosaic parent" "F" "" "" "" "0" "" "" "" "" "00294745" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303070" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat112" "00374714" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3761" "00426049" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00426050" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00426051" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00426052" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00426053" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00426054" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00426055" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "F" "" "" "" "0" "" "" "" "Pat7" "00426056" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "2y8m" "0" "" "" "" "Pat8" "00426057" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "F" "" "" "" "0" "" "" "" "Pat9" "00426058" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "M" "" "" "10m" "0" "" "" "" "Pat10" "00426059" "" "" "" "1" "" "00006" "{PMID:Parthasarathy 2022:36413998}" "" "F" "" "" "" "0" "" "" "" "Pat11" "00427686" "" "" "" "1" "" "03578" "{PMID:Harms 2023:37039969}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "Germany" "" "0" "" "" "white" "patient" "00435217" "" "" "" "1" "" "04459" "{PMID:Liu 2025:39954101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "Chinese" "Pat1" "00435218" "" "" "" "1" "" "04459" "{PMID:Liu 2025:39954101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "Chinese" "Pat2" "00435219" "" "" "" "1" "" "04459" "{PMID:Liu 2025:39954101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "Chinese" "Pat3" "00435220" "" "" "" "1" "" "04459" "4" "4" "F" "" "China" "" "" "" "" "Chinese" "4" "00438658" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0461" "00458523" "" "" "" "1" "" "00006" "{PMID:Devanna 2018:30097719}" "2-generation family, 1 affected, unaffected non carrier parents" "" "" "" "" "0" "" "" "" "Pat3" "00458527" "" "" "" "1" "" "00006" "{PMID:Sahly 2020:32909139}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Canada" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00050373" "00198" "00050579" "00198" "00050582" "00198" "00089212" "00344" "00294745" "00198" "00303070" "05521" "00374714" "00198" "00426049" "06906" "00426050" "06906" "00426051" "06906" "00426052" "06906" "00426053" "06906" "00426054" "06906" "00426055" "06906" "00426056" "06906" "00426057" "06906" "00426058" "06906" "00426059" "06906" "00427686" "06906" "00435217" "04449" "00435218" "04449" "00435219" "04449" "00435220" "04449" "00438658" "06906" "00458523" "00139" "00458527" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 04449, 05521, 06906, 07120 ## Count = 20 "{{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}}" "0000036985" "00198" "00050373" "00006" "Unknown" "" "cortical visual impairment, intellectual disability, seizures, macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000037191" "00198" "00050579" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development, flat occiput, strabismus, dental crowding, small earlobe, short finger, sandal gap, pes planus, drooling, bruxism" "" "" "" "" "" "" "" "" "" "" "" "0000037194" "00198" "00050582" "00006" "Isolated (sporadic)" "" "seizures, seizures, gingival overgrowth, abnormal palmar dermatoglyphics, clinodactyly of the 5th finger" "" "" "" "" "" "" "" "" "" "" "" "0000068602" "00344" "00089212" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000230153" "05521" "00303070" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000269924" "00198" "00374714" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000317213" "06906" "00426049" "00006" "Isolated (sporadic)" "2y" "2m-onset seizures, generalized epilepsy, epileptic spasms, myoclonic seizures, subclinical seizures, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia, multifocal SW, poorly organized background; MRI brain markedly decreased cerebral volume, deficiency of white matter, small brainstem and corpus callosum" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317214" "06906" "00426050" "00006" "Isolated (sporadic)" "2y" "2m-onset seizures, combined epilepsy, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, significant irritability; EEG history hypsarrhythmia, multifocal SW, poorly organized background, excessive discontinuity; MRI brain 1y-normal" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317215" "06906" "00426051" "00006" "Isolated (sporadic)" "3y" "2m15d-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; ; ; profound hypotonia, cortical visual impairment" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317216" "06906" "00426052" "00006" "Isolated (sporadic)" "7y" "6m-onset seizures, epileptic spasms, focal epilepsy, refractory initially, now seizure free; severe developmental delay, GMFCS V, CFCS IV; profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia; MRI brain hypoplasia of corpus callosum and enlarged ventricles" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317217" "06906" "00426053" "00006" "Isolated (sporadic)" "2y" "2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317218" "06906" "00426054" "00006" "Isolated (sporadic)" "2y" "2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317219" "06906" "00426055" "00006" "Isolated (sporadic)" "3y" "2m-onset seizures, myoclonic seizures, refractory; profound developmental delay, GMFCS V, CFCS V; profound hypotonia with peripheral spasticity; ; MRI brain normal" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317220" "06906" "00426056" "00006" "Isolated (sporadic)" "2y8m" "32m-deceased; 3m-onset seizures, myoclonic seizures, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG asynchrony, electroclinical myoclonic seizures; MRI brain diffuse cerebral atrophy" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317221" "06906" "00426057" "00006" "Isolated (sporadic)" "3y" "6m-onset seizures, no clinical seizures; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus; EEG history hypsarrhythmia, mild background slowing, focal spikes and polyspikes; MRI brain abnormal diffusion restriction attributed to vigabatrin toxicity, delayed myelination, mild enlargement of ventricles, small corpus callosum" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317222" "06906" "00426058" "00006" "Isolated (sporadic)" "10m" "10m-deceased; 3m-onset seizures, epileptic spasms, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; hyperkinetic dystonic movement disorder, profound hypotonia, cortical visual impairment; ; EEG hypsarrhythmia" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000317223" "06906" "00426059" "00006" "Isolated (sporadic)" "5y" "no seizures; mild developmental delay, GMFCS I, CFCS I, MACS II; mild hypotonia, behavioral problems; EEG moderate increase in beta frequencies; MRI brain 5y-normal" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000318700" "04270" "00427686" "03578" "Isolated (sporadic)" "02y" "see paper; ..., pregnancy uneventful; birth-42w, weight 3480g (− 0.28 z), length 54cm (0.75 z), OFC 36cm (0.55 z), first days breastfeeding difficult, bottle no problems; neonatal hypotonic, easily startled; 4w-twitching right leg, more frequent crying; 6w-prolonged seizure, hospital administration, no dysmorphic features; EEG immature irregular activity with multifocal/generalized epileptic discharges; MRI brain right choroidal fissure cyst;patent foramen ovale; >6w-frequent seizures (>100/day, myoclonic jerks, tonic clonic seizures, tonic seizures); 2y-normal growth, therapy-resistant epilepsy, no motor developmental milestones, no cognitive developmental milestones, severely hypotonic, no head control, subtle movements feet, no motor activity, no roll/crawl/sit/walk, no reaction visual/auditory stimuli, rare responses to tactile stimuli, gaze did not fix on objects, no speech development, frequent vomiting" "" "" "" "" "" "" "" "" "DEE31A" "epilepsy" "" "0000328561" "06906" "00438658" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000346962" "06906" "00458527" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "DEE31A" "developmental and epileptic encephalopathy" "" ## 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}}" "0000050318" "00050373" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050524" "00050579" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050527" "00050582" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000089358" "00089212" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000295913" "00294745" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304195" "00303070" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000375908" "00374714" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000427369" "00426049" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427370" "00426050" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427371" "00426051" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427372" "00426052" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427373" "00426053" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427374" "00426054" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427375" "00426055" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427376" "00426056" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427377" "00426057" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427378" "00426058" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427379" "00426059" "1" "00006" "00006" "2022-11-27 10:28:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000429009" "00427686" "1" "03578" "03578" "2022-12-12 11:28:37" "00006" "2024-12-13 14:17:33" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "trio WES" "0000436694" "00435217" "1" "04459" "04459" "2023-06-14 08:57:19" "" "" "SEQ-NG" "DNA" "" "" "0000436695" "00435218" "1" "04459" "04459" "2023-06-14 09:08:14" "" "" "SEQ-NG" "DNA" "" "" "0000436696" "00435219" "1" "04459" "04459" "2023-06-14 09:27:23" "" "" "SEQ-NG" "DNA" "" "" "0000436697" "00435220" "1" "04459" "04459" "2023-06-14 09:33:58" "" "" "SEQ-NG" "DNA" "" "" "0000440140" "00438658" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000460145" "00458523" "1" "00006" "00006" "2024-12-16 10:53:33" "00006" "2024-12-16 11:12:14" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000460149" "00458527" "1" "00006" "00006" "2024-12-16 11:50:55" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000050318" "DNM1" "0000050524" "DNM1" "0000089358" "DNM1" "0000304195" "DNM1" "0000375908" "DNM1" "0000429009" "DNM1" "0000436694" "DNM1" "0000436695" "DNM1" "0000436696" "DNM1" "0000436697" "DNM1" ## 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 = 108 "{{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}}" "0000079298" "0" "90" "9" "130982480" "130982480" "subst" "0" "00006" "DNM1_000003" "g.130982480C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.128220201C>T" "" "pathogenic" "" "0000079504" "0" "90" "9" "130985129" "130985129" "subst" "0" "00006" "DNM1_000002" "g.130985129C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.128222850C>G" "" "pathogenic" "" "0000079507" "0" "90" "9" "130984491" "130984491" "subst" "0" "00006" "DNM1_000001" "g.130984491A>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.128222212A>T" "" "pathogenic" "" "0000147295" "1" "90" "9" "130982480" "130982480" "subst" "0" "00006" "DNM1_000003" "g.130982480C>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "mosaic parent" "Germline" "" "" "0" "" "" "g.128220201C>T" "" "pathogenic" "" "0000249380" "0" "30" "9" "130942732" "130942732" "subst" "0.000235558" "02325" "CIZ1_000010" "g.130942732A>G" "" "" "" "CIZ1(NM_001257975.2):c.843T>C (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128180453A>G" "" "likely benign" "" "0000266817" "0" "30" "9" "130941411" "130941411" "subst" "0.000237258" "02325" "CIZ1_000007" "g.130941411T>C" "" "" "" "CIZ1(NM_001257975.2):c.1165A>G (p.K389E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128179132T>C" "" "likely benign" "" "0000266818" "0" "30" "9" "130941377" "130941377" "subst" "0.00231966" "02325" "CIZ1_000006" "g.130941377T>C" "" "" "" "CIZ1(NM_001257975.2):c.1199A>G (p.E400G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128179098T>C" "" "likely benign" "" "0000266819" "0" "30" "9" "130941316" "130941316" "subst" "0.00433483" "02325" "CIZ1_000005" "g.130941316C>A" "" "" "" "CIZ1(NM_001257975.1):c.1260G>T (p.Q420H), CIZ1(NM_001257975.2):c.1260G>T (p.Q420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128179037C>A" "" "likely benign" "" "0000266820" "0" "30" "9" "130941121" "130941121" "subst" "0.00764639" "02325" "CIZ1_000004" "g.130941121T>C" "" "" "" "CIZ1(NM_001257975.2):c.1455A>G (p.V485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128178842T>C" "" "likely benign" "" "0000266821" "0" "10" "9" "130932398" "130932399" "del" "0" "02325" "CIZ1_000003" "g.130932398_130932399del" "" "" "" "CIZ1(NM_001257975.2):c.2034-12_2034-11delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128170119_128170120del" "" "benign" "" "0000266822" "0" "30" "9" "130931672" "130931672" "subst" "0.00252334" "02325" "CIZ1_000002" "g.130931672G>A" "" "" "" "CIZ1(NM_001257975.2):c.2313+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128169393G>A" "" "likely benign" "" "0000266823" "0" "30" "9" "130954174" "130954174" "subst" "0.00256743" "02325" "CIZ1_000012" "g.130954174C>A" "" "" "" "CIZ1(NM_001257975.1):c.45G>T (p.A15=), CIZ1(NM_001257975.2):c.45G>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128191895C>A" "" "likely benign" "" "0000270829" "0" "30" "9" "131015377" "131015377" "subst" "0" "02326" "DNM1_000004" "g.131015377C>G" "" "" "" "DNM1(NM_001005336.3):c.2535-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128253098C>G" "" "likely benign" "" "0000273584" "0" "50" "9" "130941557" "130941557" "subst" "0.000414408" "01943" "CIZ1_000008" "g.130941557C>T" "" "" "" "CIZ1(NM_001257975.1):c.1019G>A (p.R340Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128179278C>T" "" "VUS" "" "0000273585" "0" "30" "9" "130954174" "130954174" "subst" "0.00256743" "01943" "CIZ1_000012" "g.130954174C>A" "" "" "" "CIZ1(NM_001257975.1):c.45G>T (p.A15=), CIZ1(NM_001257975.2):c.45G>T (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128191895C>A" "" "likely benign" "" "0000273586" "0" "30" "9" "130954150" "130954150" "subst" "0" "01943" "CIZ1_000011" "g.130954150C>T" "" "" "" "CIZ1(NM_001257975.1):c.69G>A (p.P23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128191871C>T" "" "likely benign" "" "0000273587" "0" "30" "9" "130941691" "130941691" "subst" "0.000430468" "01943" "CIZ1_000009" "g.130941691T>G" "" "" "" "CIZ1(NM_001257975.1):c.885A>C (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128179412T>G" "" "likely benign" "" "0000275421" "0" "30" "9" "131015388" "131015388" "subst" "0" "01943" "DNM1_000005" "g.131015388T>C" "" "" "" "DNM1(NM_001288738.1):c.2543T>C (p.I848T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128253109T>C" "" "likely benign" "" "0000332797" "0" "50" "9" "130931384" "130931384" "subst" "0" "01804" "CIZ1_000001" "g.130931384C>T" "" "" "" "CIZ1(NM_001131015.1):c.2074G>A (p.(Glu692Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128169105C>T" "" "VUS" "" "0000341524" "0" "50" "9" "131009724" "131009724" "subst" "0" "02327" "DNM1_000010" "g.131009724G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128247445G>T" "" "VUS" "" "0000342729" "0" "70" "9" "130984828" "130984828" "subst" "0" "02327" "DNM1_000007" "g.130984828C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128222549C>G" "" "likely pathogenic" "" "0000344874" "0" "70" "9" "131002011" "131002011" "subst" "0" "02327" "DNM1_000009" "g.131002011C>T" "" "" "" "DNM1(NM_001288739.1):c.1498C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128239732C>T" "" "likely pathogenic" "" "0000347882" "0" "50" "9" "131010965" "131010965" "subst" "0" "02327" "DNM1_000011" "g.131010965T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128248686T>C" "" "VUS" "" "0000349179" "0" "30" "9" "131013105" "131013105" "subst" "0" "02327" "DNM1_000012" "g.131013105C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128250826C>G" "" "likely benign" "" "0000349353" "0" "50" "9" "130982276" "130982276" "subst" "0" "02327" "DNM1_000006" "g.130982276C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128219997C>T" "" "VUS" "" "0000350554" "0" "50" "9" "130996342" "130996342" "subst" "0" "02327" "DNM1_000008" "g.130996342G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128234063G>C" "" "VUS" "" "0000536357" "0" "30" "9" "130928611" "130928611" "subst" "0.000408629" "01943" "C9orf16_000001" "g.130928611G>A" "" "" "" "CIZ1(NM_001257975.1):c.2730C>T (p.N910=), CIZ1(NM_001257975.2):c.2730C>T (p.N910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128166332G>A" "" "likely benign" "" "0000536358" "0" "30" "9" "130928611" "130928611" "subst" "0.000408629" "02325" "C9orf16_000001" "g.130928611G>A" "" "" "" "CIZ1(NM_001257975.1):c.2730C>T (p.N910=), CIZ1(NM_001257975.2):c.2730C>T (p.N910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128166332G>A" "" "likely benign" "" "0000536359" "0" "10" "9" "130941134" "130941134" "subst" "0.00143755" "01943" "CIZ1_000013" "g.130941134G>A" "" "" "" "CIZ1(NM_001257975.1):c.1442C>T (p.A481V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128178855G>A" "" "benign" "" "0000536360" "0" "30" "9" "130941316" "130941316" "subst" "0.00433483" "01943" "CIZ1_000005" "g.130941316C>A" "" "" "" "CIZ1(NM_001257975.1):c.1260G>T (p.Q420H), CIZ1(NM_001257975.2):c.1260G>T (p.Q420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128179037C>A" "" "likely benign" "" "0000536362" "0" "70" "9" "130982582" "130982582" "subst" "0" "02327" "CIZ1_000015" "g.130982582C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128220303C>T" "" "likely pathogenic" "" "0000536363" "0" "50" "9" "130984552" "130984552" "subst" "0" "02327" "CIZ1_000016" "g.130984552A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128222273A>G" "" "VUS" "" "0000536364" "0" "10" "9" "130984755" "130984755" "subst" "0.542216" "02327" "CIZ1_000017" "g.130984755C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128222476C>T" "" "benign" "" "0000536365" "0" "50" "9" "130984838" "130984838" "subst" "0" "01804" "CIZ1_000018" "g.130984838G>T" "" "" "" "DNM1(NM_001005336.1):c.1091G>T (p.(Arg364Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128222559G>T" "" "VUS" "" "0000536366" "0" "70" "9" "130984846" "130984846" "subst" "0" "02327" "CIZ1_000019" "g.130984846C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128222567C>G" "" "likely pathogenic" "" "0000536367" "0" "30" "9" "130996393" "130996393" "subst" "0" "01804" "CIZ1_000020" "g.130996393C>A" "" "" "" "DNM1(NM_001005336.1):c.1422+7C>A (p.(=)), DNM1(NM_001288738.2):c.1422+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128234114C>A" "" "likely benign" "" "0000536368" "0" "30" "9" "131008708" "131008708" "subst" "0.000345152" "02326" "CIZ1_000021" "g.131008708C>T" "" "" "" "DNM1(NM_001288738.1):c.1707C>T (p.N569=), DNM1(NM_001288738.2):c.1707C>T (p.N569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128246429C>T" "" "likely benign" "" "0000536369" "0" "50" "9" "131013100" "131013100" "subst" "0" "02326" "CIZ1_000022" "g.131013100T>G" "" "" "" "DNM1(NM_001288738.2):c.2415T>G (p.A805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128250821T>G" "" "VUS" "" "0000536371" "0" "30" "9" "131021641" "131021641" "subst" "0.000912848" "01804" "CIZ1_000024" "g.131021641A>C" "" "" "" "GOLGA2(NM_004486.4):c.1821T>G (p.(Ser607Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128259362A>C" "" "likely benign" "" "0000611874" "0" "30" "9" "130941553" "130941553" "subst" "0" "01804" "CIZ1_000026" "g.130941553G>C" "" "" "" "CIZ1(NM_001131015.1):c.933C>G (p.(Phe311Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128179274G>C" "" "likely benign" "" "0000611875" "0" "50" "9" "130953045" "130953047" "dup" "0" "02325" "CIZ1_000028" "g.130953045_130953047dup" "" "" "" "CIZ1(NM_001257975.2):c.190_192dupCAG (p.Q64dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128190766_128190768dup" "" "VUS" "" "0000611876" "0" "70" "9" "130965872" "130965872" "subst" "0" "02329" "CIZ1_000029" "g.130965872C>A" "" "" "" "DNM1(NM_001288738.2):c.123C>A (p.S41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128203593C>A" "" "likely pathogenic" "" "0000611877" "0" "70" "9" "130984784" "130984784" "subst" "0" "02325" "CIZ1_000030" "g.130984784G>A" "" "" "" "DNM1(NM_001288738.2):c.1037G>A (p.G346D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128222505G>A" "" "likely pathogenic" "" "0000622167" "0" "30" "9" "130952712" "130952712" "subst" "5.78579E-5" "01943" "CIZ1_000027" "g.130952712G>A" "" "" "" "CIZ1(NM_001257975.1):c.272C>T (p.P91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128190433G>A" "" "likely benign" "" "0000652602" "1" "30" "9" "130982568" "130982568" "subst" "0.000259917" "03575" "DNM1_000013" "g.130982568G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200136679}" "Germline" "" "rs200136679" "0" "" "" "g.128220289G>A" "" "likely benign" "" "0000656229" "0" "30" "9" "130941306" "130941306" "subst" "0.000172291" "01804" "CIZ1_000034" "g.130941306G>C" "" "" "" "CIZ1(NM_001131016.1):c.1180C>G (p.(Gln394Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128179027G>C" "" "likely benign" "" "0000656230" "0" "50" "9" "130954185" "130954185" "subst" "3.05867E-5" "01943" "CIZ1_000035" "g.130954185G>A" "" "" "" "CIZ1(NM_001257975.1):c.34C>T (p.R12C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128191906G>A" "" "VUS" "" "0000656231" "0" "50" "9" "130965858" "130965858" "subst" "0" "02327" "CIZ1_000036" "g.130965858G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128203579G>T" "" "VUS" "" "0000656232" "0" "50" "9" "131010967" "131010967" "subst" "4.06418E-6" "02329" "CIZ1_000037" "g.131010967G>A" "" "" "" "DNM1(NM_001288738.2):c.2011G>A (p.A671T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128248688G>A" "" "VUS" "" "0000667608" "0" "70" "9" "130985133" "130985133" "subst" "0" "00006" "DNM1_000014" "g.130985133G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.128222854G>A" "" "likely pathogenic (dominant)" "ACMG" "0000678530" "0" "30" "9" "130984880" "130984880" "subst" "0" "02325" "CIZ1_000038" "g.130984880G>A" "" "" "" "DNM1(NM_001288738.2):c.1128+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690413" "0" "30" "9" "130980591" "130980591" "subst" "9.34041E-5" "01943" "CIZ1_000040" "g.130980591C>T" "" "" "" "DNM1(NM_001288738.1):c.235+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722275" "0" "90" "9" "130982480" "130982480" "subst" "0" "02329" "DNM1_000003" "g.130982480C>T" "" "" "" "DNM1(NM_001288738.2):c.709C>T (p.R237W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722276" "0" "30" "9" "130996393" "130996393" "subst" "0" "02326" "CIZ1_000020" "g.130996393C>A" "" "" "" "DNM1(NM_001005336.1):c.1422+7C>A (p.(=)), DNM1(NM_001288738.2):c.1422+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722277" "0" "50" "9" "131013145" "131013145" "subst" "0" "02329" "CIZ1_000023" "g.131013145G>A" "" "" "" "DNM1(NM_001288738.2):c.2460G>A (p.G820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722278" "0" "50" "9" "131016985" "131016985" "subst" "0" "02329" "CIZ1_000041" "g.131016985G>C" "" "" "" "DNM1(NM_001288739.2):c.2587G>C (p.D863H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787259" "0" "50" "9" "131012487" "131012487" "subst" "0" "00006" "DNM1_000015" "g.131012487C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1386035686" "0" "" "" "g.128250208C>T" "" "VUS" "" "0000803884" "0" "30" "9" "130981392" "130981392" "subst" "0.000905657" "01943" "CIZ1_000042" "g.130981392C>G" "" "" "" "DNM1(NM_001288738.1):c.450C>G (p.P150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803885" "0" "50" "9" "131008743" "131008743" "subst" "0" "01943" "CIZ1_000043" "g.131008743C>G" "" "" "" "DNM1(NM_001288738.1):c.1742C>G (p.S581W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803886" "0" "30" "9" "131010888" "131010888" "subst" "2.03155E-5" "01943" "CIZ1_000044" "g.131010888C>T" "" "" "" "DNM1(NM_001288738.1):c.1932C>T (p.S644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852113" "0" "30" "9" "130941594" "130941594" "subst" "2.84319E-5" "01943" "CIZ1_000045" "g.130941594G>A" "" "" "" "CIZ1(NM_001257975.1):c.982C>T (p.L328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861401" "0" "30" "9" "131008708" "131008708" "subst" "0.000345152" "01943" "CIZ1_000021" "g.131008708C>T" "" "" "" "DNM1(NM_001288738.1):c.1707C>T (p.N569=), DNM1(NM_001288738.2):c.1707C>T (p.N569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888634" "0" "50" "9" "130981462" "130981462" "subst" "0" "02329" "CIZ1_000046" "g.130981462G>A" "" "" "" "DNM1(NM_001288738.2):c.520G>A (p.V174M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888635" "0" "50" "9" "131012636" "131012636" "subst" "0" "02325" "CIZ1_000047" "g.131012636G>A" "" "" "" "DNM1(NM_004408.4):c.2318+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904727" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904728" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904729" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904730" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904731" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904732" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904733" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904734" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "effect on splicing concluded from in vitro mini-gene splicing assay; variant protein has dominant-negative effect on function" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0000904735" "0" "90" "9" "130988319" "130988319" "subst" "0" "00006" "DNM1_000019" "g.130988319G>A" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "" "De novo" "" "" "0" "" "" "g.128226040G>A" "" "pathogenic (dominant)" "" "0000904736" "0" "90" "9" "130985138" "130985138" "subst" "0" "00006" "DNM1_000016" "g.130985138A>T" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "" "De novo" "" "" "0" "" "" "g.128222859A>T" "" "pathogenic (dominant)" "" "0000904737" "0" "90" "9" "130986547" "130986547" "subst" "0" "00006" "DNM1_000017" "g.130986547C>T" "" "{PMID:Parthasarathy 2022:36413998}" "" "" "" "De novo" "" "" "0" "" "" "g.128224268C>T" "" "pathogenic (dominant)" "" "0000908423" "0" "90" "9" "130988268" "130988268" "subst" "0" "03578" "DNM1_000020" "g.130988268C>G" "" "{PMID:Harms 2023:37039969}" "" "" "" "De novo" "-" "" "0" "" "" "g.128225989C>G" "" "likely pathogenic" "ACMG" "0000913086" "0" "50" "9" "130982546" "130982546" "subst" "4.06065E-6" "02329" "CIZ1_000048" "g.130982546T>C" "" "" "" "DNM1(NM_001288738.2):c.775T>C (p.F259L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913087" "0" "90" "9" "130988306" "130988306" "subst" "0" "02327" "DNM1_000018" "g.130988306G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924961" "0" "50" "9" "130984579" "130984579" "subst" "1.62591E-5" "02325" "CIZ1_000049" "g.130984579G>A" "" "" "" "DNM1(NM_004408.4):c.953G>A (p.R318H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924962" "0" "50" "9" "131008691" "131008691" "subst" "0" "02327" "CIZ1_000050" "g.131008691A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924963" "0" "50" "9" "131019405" "131019405" "subst" "0" "02325" "CIZ1_000051" "g.131019405A>G" "" "" "" "GOLGA2(NM_004486.6):c.2950T>C (p.C984R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924964" "0" "50" "9" "131019939" "131019939" "subst" "8.12203E-6" "02325" "CIZ1_000052" "g.131019939G>A" "" "" "" "GOLGA2(NM_004486.6):c.2578C>T (p.R860W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927810" "0" "90" "9" "130965861" "130965869" "delins" "0" "04459" "DNM1_000021" "g.130965861_130965869delinsAGCGGCCAC" "" "{PMID:Liu 2025:39954101}" "" "" "" "De novo" "" "" "0" "" "" "g.128203582_128203590delinsAGCGGCCAC" "" "likely pathogenic (dominant)" "ACMG" "0000927811" "0" "90" "9" "130981399" "130981399" "subst" "0" "04459" "DNM1_000023" "g.130981399G>A" "" "{PMID:Liu 2025:39954101}" "" "" "" "De novo" "" "" "0" "" "" "g.128219120G>A" "" "likely pathogenic" "ACMG" "0000927812" "0" "90" "9" "130980541" "130980541" "subst" "0" "04459" "DNM1_000022" "g.130980541A>C" "" "{PMID:Liu 2025:39954101}" "" "" "" "De novo" "" "" "0" "" "" "g.128218262A>C" "" "likely pathogenic" "ACMG" "0000927813" "1" "90" "9" "130982498" "130982515" "del" "0" "04459" "DNM1_000024" "g.130982498_130982515del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.128220219_128220236del" "" "likely pathogenic" "ACMG" "0000929538" "0" "30" "9" "131001797" "131001797" "subst" "0" "02325" "CIZ1_000053" "g.131001797G>A" "" "" "" "DNM1(NM_004408.4):c.1493+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929539" "0" "50" "9" "131021322" "131021322" "subst" "0.00152385" "02325" "CIZ1_000054" "g.131021322G>A" "" "" "" "GOLGA2(NM_004486.6):c.2056C>T (p.R686W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936435" "0" "70" "9" "130985111" "130985111" "subst" "0" "00006" "DNM1_000025" "g.130985111T>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_004408:c.T1168G (Y390D)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000978405" "0" "50" "9" "130940775" "130940775" "subst" "0" "01804" "CIZ1_000056" "g.130940775A>G" "" "" "" "CIZ1(NM_001131016.2):c.1499-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978406" "0" "50" "9" "130982567" "130982567" "subst" "5.27932E-5" "01804" "CIZ1_000057" "g.130982567C>T" "" "" "" "DNM1(NM_004408.4):c.796C>T (p.(Arg266Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978407" "0" "50" "9" "130996395" "130996395" "subst" "2.31246E-5" "01804" "CIZ1_000058" "g.130996395C>T" "" "" "" "DNM1(NM_004408.4):c.1422+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978408" "0" "50" "9" "131004539" "131004539" "subst" "0.000125928" "01804" "CIZ1_000059" "g.131004539A>G" "" "" "" "DNM1(NM_004408.4):c.1586A>G (p.(Asn529Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997503" "0" "30" "9" "130980572" "130980572" "subst" "3.65458E-5" "02325" "CIZ1_000060" "g.130980572A>G" "" "" "" "DNM1(NM_004408.4):c.224A>G (p.N75S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997504" "0" "50" "9" "130982583" "130982583" "subst" "2.031E-5" "01804" "CIZ1_000061" "g.130982583G>A" "" "" "" "DNM1(NM_004408.2):c.812G>A (p.(Arg271His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997505" "0" "30" "9" "130984516" "130984516" "subst" "1.219E-5" "01804" "CIZ1_000062" "g.130984516G>A" "" "" "" "DNM1(NM_001005336.1):c.890G>A (p.(Arg297Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997506" "0" "50" "9" "130986594" "130986594" "subst" "4.06223E-5" "01804" "CIZ1_000063" "g.130986594C>T" "" "" "" "DNM1(NM_001005336.1):c.1261C>T (p.(Arg421*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997507" "0" "30" "9" "130988390" "130988390" "subst" "0" "01804" "CIZ1_000064" "g.130988390A>G" "" "" "" "DNM1(NM_001288738.1):c.1273A>G (p.(Ile425Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997508" "0" "30" "9" "130996307" "130996307" "subst" "0" "01804" "CIZ1_000065" "g.130996307A>G" "" "" "" "DNM1(NM_004408.2):c.1343A>G (p.(Gln448Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997509" "0" "30" "9" "131012455" "131012455" "subst" "4.0659E-6" "01804" "CIZ1_000066" "g.131012455C>T" "" "" "" "DNM1(NM_001005336.1):c.2138C>T (p.(Thr713Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997510" "0" "50" "9" "131012518" "131012518" "subst" "0" "01804" "CIZ1_000067" "g.131012518C>T" "" "" "" "DNM1(NM_004408.2):c.2201C>T (p.(Ala734Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997511" "0" "50" "9" "131016966" "131016966" "subst" "0" "01804" "CIZ1_000068" "g.131016966G>C" "" "" "" "DNM1(NM_001005336.1):c.*49G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997512" "0" "30" "9" "131016980" "131016980" "subst" "0" "01804" "CIZ1_000069" "g.131016980C>G" "" "" "" "DNM1(NM_001288739.1):c.2582C>G (p.(Pro861Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016071" "0" "50" "9" "130981336" "130981336" "subst" "0" "03779" "DNM1_000026" "g.130981336C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001019114" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Devanna 2018:30097719}" "" "" "" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0001019122" "0" "90" "9" "130988306" "130988306" "subst" "0" "00006" "DNM1_000018" "g.130988306G>A" "" "{PMID:Sahly 2020:32909139}" "" "" "" "De novo" "" "" "0" "" "" "g.128226027G>A" "" "pathogenic (dominant)" "" "0001037190" "0" "30" "9" "131004464" "131004464" "subst" "0" "01804" "CIZ1_000070" "g.131004464G>T" "" "" "" "DNM1(NM_004408.4):c.1558-47G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037191" "0" "50" "9" "131012481" "131012481" "subst" "4.06712E-6" "01804" "CIZ1_000071" "g.131012481G>T" "" "" "" "DNM1(NM_004408.4):c.2164G>T (p.(Ala722Ser))" "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 DNM1 ## Count = 203 "{{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}}" "0000079298" "00006594" "00" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000079504" "00006594" "00" "1186" "0" "1186" "0" "c.1186C>G" "r.(?)" "p.(His396Asp)" "" "0000079507" "00006594" "00" "865" "0" "865" "0" "c.865A>T" "r.(?)" "p.(Ile289Phe)" "" "0000147295" "00006594" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "6" "0000249380" "00025760" "30" "-23018" "0" "-23018" "0" "c.-23018A>G" "r.(?)" "p.(=)" "" "0000249380" "00006594" "30" "-23018" "0" "-23018" "0" "c.-23018A>G" "r.(?)" "p.(=)" "" "0000266817" "00025760" "30" "-24339" "0" "-24339" "0" "c.-24339T>C" "r.(?)" "p.(=)" "" "0000266817" "00006594" "30" "-24339" "0" "-24339" "0" "c.-24339T>C" "r.(?)" "p.(=)" "" "0000266818" "00025760" "30" "-24373" "0" "-24373" "0" "c.-24373T>C" "r.(?)" "p.(=)" "" "0000266818" "00006594" "30" "-24373" "0" "-24373" "0" "c.-24373T>C" "r.(?)" "p.(=)" "" "0000266819" "00025760" "30" "-24434" "0" "-24434" "0" "c.-24434C>A" "r.(?)" "p.(=)" "" "0000266819" "00006594" "30" "-24434" "0" "-24434" "0" "c.-24434C>A" "r.(?)" "p.(=)" "" "0000266820" "00025760" "30" "-24629" "0" "-24629" "0" "c.-24629T>C" "r.(?)" "p.(=)" "" "0000266820" "00006594" "30" "-24629" "0" "-24629" "0" "c.-24629T>C" "r.(?)" "p.(=)" "" "0000266821" "00025760" "10" "-33352" "0" "-33351" "0" "c.-33352_-33351del" "r.(?)" "p.(=)" "" "0000266821" "00006594" "10" "-33352" "0" "-33351" "0" "c.-33352_-33351del" "r.(?)" "p.(=)" "" "0000266822" "00025760" "30" "-34078" "0" "-34078" "0" "c.-34078G>A" "r.(?)" "p.(=)" "" "0000266822" "00006594" "30" "-34078" "0" "-34078" "0" "c.-34078G>A" "r.(?)" "p.(=)" "" "0000266823" "00025760" "30" "-11576" "0" "-11576" "0" "c.-11576C>A" "r.(?)" "p.(=)" "" "0000266823" "00006594" "30" "-11576" "0" "-11576" "0" "c.-11576C>A" "r.(?)" "p.(=)" "" "0000270829" "00025760" "30" "2535" "-1556" "2535" "-1556" "c.2535-1556C>G" "r.(=)" "p.(=)" "" "0000270829" "00006594" "30" "2535" "-1556" "2535" "-1556" "c.2535-1556C>G" "r.(=)" "p.(=)" "" "0000273584" "00025760" "50" "-24193" "0" "-24193" "0" "c.-24193C>T" "r.(?)" "p.(=)" "" "0000273584" "00006594" "50" "-24193" "0" "-24193" "0" "c.-24193C>T" "r.(?)" "p.(=)" "" "0000273585" "00025760" "30" "-11576" "0" "-11576" "0" "c.-11576C>A" "r.(?)" "p.(=)" "" "0000273585" "00006594" "30" "-11576" "0" "-11576" "0" "c.-11576C>A" "r.(?)" "p.(=)" "" "0000273586" "00025760" "30" "-11600" "0" "-11600" "0" "c.-11600C>T" "r.(?)" "p.(=)" "" "0000273586" "00006594" "30" "-11600" "0" "-11600" "0" "c.-11600C>T" "r.(?)" "p.(=)" "" "0000273587" "00025760" "30" "-24059" "0" "-24059" "0" "c.-24059T>G" "r.(?)" "p.(=)" "" "0000273587" "00006594" "30" "-24059" "0" "-24059" "0" "c.-24059T>G" "r.(?)" "p.(=)" "" "0000275421" "00025760" "30" "2535" "-1545" "2535" "-1545" "c.2535-1545T>C" "r.(=)" "p.(=)" "" "0000275421" "00006594" "30" "2535" "-1545" "2535" "-1545" "c.2535-1545T>C" "r.(=)" "p.(=)" "" "0000332797" "00025760" "50" "-34366" "0" "-34366" "0" "c.-34366C>T" "r.(?)" "p.(=)" "" "0000332797" "00006594" "50" "-34366" "0" "-34366" "0" "c.-34366C>T" "r.(?)" "p.(=)" "" "0000341524" "00025760" "50" "1852" "0" "1852" "0" "c.1852G>T" "r.(?)" "p.(Ala618Ser)" "" "0000341524" "00006594" "50" "1852" "0" "1852" "0" "c.1852G>T" "r.(?)" "p.(Ala618Ser)" "" "0000342729" "00025760" "70" "1081" "0" "1081" "0" "c.1081C>G" "r.(?)" "p.(Arg361Gly)" "" "0000342729" "00006594" "70" "1081" "0" "1081" "0" "c.1081C>G" "r.(?)" "p.(Arg361Gly)" "" "0000344874" "00025760" "70" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500Ter)" "" "0000344874" "00006594" "70" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500Ter)" "" "0000347882" "00025760" "50" "2009" "0" "2009" "0" "c.2009T>C" "r.(?)" "p.(Met670Thr)" "" "0000347882" "00006594" "50" "2009" "0" "2009" "0" "c.2009T>C" "r.(?)" "p.(Met670Thr)" "" "0000349179" "00025760" "30" "2420" "0" "2420" "0" "c.2420C>G" "r.(?)" "p.(Ser807Cys)" "" "0000349179" "00006594" "30" "2420" "0" "2420" "0" "c.2420C>G" "r.(?)" "p.(Ser807Cys)" "" "0000349353" "00025760" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Thr200Ile)" "" "0000349353" "00006594" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Thr200Ile)" "" "0000350554" "00025760" "50" "1378" "0" "1378" "0" "c.1378G>C" "r.(?)" "p.(Val460Leu)" "" "0000350554" "00006594" "50" "1378" "0" "1378" "0" "c.1378G>C" "r.(?)" "p.(Val460Leu)" "" "0000536357" "00025760" "30" "-37139" "0" "-37139" "0" "c.-37139G>A" "r.(?)" "p.(=)" "" "0000536357" "00006594" "30" "-37139" "0" "-37139" "0" "c.-37139G>A" "r.(?)" "p.(=)" "" "0000536358" "00025760" "30" "-37139" "0" "-37139" "0" "c.-37139G>A" "r.(?)" "p.(=)" "" "0000536358" "00006594" "30" "-37139" "0" "-37139" "0" "c.-37139G>A" "r.(?)" "p.(=)" "" "0000536359" "00025760" "10" "-24616" "0" "-24616" "0" "c.-24616G>A" "r.(?)" "p.(=)" "" "0000536359" "00006594" "10" "-24616" "0" "-24616" "0" "c.-24616G>A" "r.(?)" "p.(=)" "" "0000536360" "00025760" "30" "-24434" "0" "-24434" "0" "c.-24434C>A" "r.(?)" "p.(=)" "" "0000536360" "00006594" "30" "-24434" "0" "-24434" "0" "c.-24434C>A" "r.(?)" "p.(=)" "" "0000536362" "00025760" "70" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0000536362" "00006594" "70" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0000536363" "00025760" "50" "926" "0" "926" "0" "c.926A>G" "r.(?)" "p.(Lys309Arg)" "" "0000536363" "00006594" "50" "926" "0" "926" "0" "c.926A>G" "r.(?)" "p.(Lys309Arg)" "" "0000536364" "00025760" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Phe336=)" "" "0000536364" "00006594" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Phe336=)" "" "0000536365" "00025760" "50" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Arg364Leu)" "" "0000536365" "00006594" "50" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Arg364Leu)" "" "0000536366" "00025760" "70" "1099" "0" "1099" "0" "c.1099C>G" "r.(?)" "p.(His367Asp)" "" "0000536366" "00006594" "70" "1099" "0" "1099" "0" "c.1099C>G" "r.(?)" "p.(His367Asp)" "" "0000536367" "00025760" "30" "1422" "7" "1422" "7" "c.1422+7C>A" "r.(=)" "p.(=)" "" "0000536367" "00006594" "30" "1422" "7" "1422" "7" "c.1422+7C>A" "r.(=)" "p.(=)" "" "0000536368" "00025760" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Asn569=)" "" "0000536368" "00006594" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Asn569=)" "" "0000536369" "00025760" "50" "2415" "0" "2415" "0" "c.2415T>G" "r.(?)" "p.(Ala805=)" "" "0000536369" "00006594" "50" "2415" "0" "2415" "0" "c.2415T>G" "r.(?)" "p.(Ala805=)" "" "0000536371" "00025760" "30" "7243" "0" "7243" "0" "c.*4648A>C" "r.(=)" "p.(=)" "" "0000536371" "00006594" "30" "7243" "0" "7243" "0" "c.*4648A>C" "r.(=)" "p.(=)" "" "0000611874" "00025760" "30" "-24197" "0" "-24197" "0" "c.-24197G>C" "r.(?)" "p.(=)" "" "0000611874" "00006594" "30" "-24197" "0" "-24197" "0" "c.-24197G>C" "r.(?)" "p.(=)" "" "0000611875" "00025760" "50" "-12705" "0" "-12703" "0" "c.-12705_-12703dup" "r.(?)" "p.(=)" "" "0000611875" "00006594" "50" "-12705" "0" "-12703" "0" "c.-12705_-12703dup" "r.(?)" "p.(=)" "" "0000611876" "00025760" "70" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Ser41Arg)" "" "0000611876" "00006594" "70" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Ser41Arg)" "" "0000611877" "00025760" "70" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Gly346Asp)" "" "0000611877" "00006594" "70" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Gly346Asp)" "" "0000622167" "00025760" "30" "-13038" "0" "-13038" "0" "c.-13038G>A" "r.(?)" "p.(=)" "" "0000622167" "00006594" "30" "-13038" "0" "-13038" "0" "c.-13038G>A" "r.(?)" "p.(=)" "" "0000652602" "00006594" "30" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266His)" "" "0000656229" "00025760" "30" "-24444" "0" "-24444" "0" "c.-24444G>C" "r.(?)" "p.(=)" "" "0000656229" "00006594" "30" "-24444" "0" "-24444" "0" "c.-24444G>C" "r.(?)" "p.(=)" "" "0000656230" "00025760" "50" "-11565" "0" "-11565" "0" "c.-11565G>A" "r.(?)" "p.(=)" "" "0000656230" "00006594" "50" "-11565" "0" "-11565" "0" "c.-11565G>A" "r.(?)" "p.(=)" "" "0000656231" "00025760" "50" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Val37Leu)" "" "0000656231" "00006594" "50" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Val37Leu)" "" "0000656232" "00025760" "50" "2011" "0" "2011" "0" "c.2011G>A" "r.(?)" "p.(Ala671Thr)" "" "0000656232" "00006594" "50" "2011" "0" "2011" "0" "c.2011G>A" "r.(?)" "p.(Ala671Thr)" "" "0000667608" "00006594" "70" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Gly397Asp)" "" "0000678530" "00025760" "30" "1128" "5" "1128" "5" "c.1128+5G>A" "r.spl?" "p.?" "" "0000678530" "00006594" "30" "1128" "5" "1128" "5" "c.1128+5G>A" "r.spl?" "p.?" "" "0000690413" "00025760" "30" "235" "8" "235" "8" "c.235+8C>T" "r.(=)" "p.(=)" "" "0000690413" "00006594" "30" "235" "8" "235" "8" "c.235+8C>T" "r.(=)" "p.(=)" "" "0000722275" "00025760" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000722275" "00006594" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000722276" "00025760" "30" "1422" "7" "1422" "7" "c.1422+7C>A" "r.(=)" "p.(=)" "" "0000722276" "00006594" "30" "1422" "7" "1422" "7" "c.1422+7C>A" "r.(=)" "p.(=)" "" "0000722277" "00025760" "50" "2460" "0" "2460" "0" "c.2460G>A" "r.(?)" "p.(Gly820=)" "" "0000722277" "00006594" "50" "2460" "0" "2460" "0" "c.2460G>A" "r.(?)" "p.(Gly820=)" "" "0000722278" "00025760" "50" "2587" "0" "2587" "0" "c.2587G>C" "r.(?)" "p.(Asp863His)" "" "0000722278" "00006594" "50" "2587" "0" "2587" "0" "c.2587G>C" "r.(?)" "p.(Asp863His)" "" "0000787259" "00006594" "50" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Arg724Trp)" "20" "0000803884" "00025760" "30" "450" "0" "450" "0" "c.450C>G" "r.(?)" "p.(Pro150=)" "" "0000803884" "00006594" "30" "450" "0" "450" "0" "c.450C>G" "r.(?)" "p.(Pro150=)" "" "0000803885" "00025760" "50" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Ser581Trp)" "" "0000803885" "00006594" "50" "1742" "0" "1742" "0" "c.1742C>G" "r.(?)" "p.(Ser581Trp)" "" "0000803886" "00025760" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Ser644=)" "" "0000803886" "00006594" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Ser644=)" "" "0000852113" "00025760" "30" "-24156" "0" "-24156" "0" "c.-24156G>A" "r.(?)" "p.(=)" "" "0000852113" "00006594" "30" "-24156" "0" "-24156" "0" "c.-24156G>A" "r.(?)" "p.(=)" "" "0000861401" "00025760" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Asn569=)" "" "0000861401" "00006594" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Asn569=)" "" "0000888634" "00025760" "50" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Met)" "" "0000888634" "00006594" "50" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Met)" "" "0000888635" "00025760" "50" "2318" "1" "2318" "1" "c.2318+1G>A" "r.spl?" "p.?" "" "0000888635" "00006594" "50" "2318" "1" "2318" "1" "c.2318+1G>A" "r.spl?" "p.?" "" "0000904727" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904727" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904728" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904728" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904729" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904729" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904730" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904730" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904731" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904731" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904732" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904732" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904733" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904733" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904734" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(1196_1197ins1197-6_1197-1)" "p.(Arg399_Thr400insCysArg)" "10a" "0000904734" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "9i" "0000904735" "00025760" "90" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Gly401Asp)" "10a" "0000904735" "00006594" "90" "1335" "1651" "1335" "1651" "c.1335+1651G>A" "r.(?)" "p.(=)" "9i" "0000904736" "00025760" "90" "1195" "0" "1195" "0" "c.1195A>T" "r.(?)" "p.(Arg399Trp)" "9i" "0000904736" "00006594" "90" "1195" "0" "1195" "0" "c.1195A>T" "r.(?)" "p.(Arg399Ter)" "9" "0000904737" "00025760" "90" "1196" "1408" "1196" "1408" "c.1196+1408C>T" "r.(?)" "p.(=)" "9i" "0000904737" "00006594" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "10b" "0000908423" "00025760" "90" "1197" "-46" "1197" "-46" "c.1197-46C>G" "r.1196_1197ins[1197-45_1197-1]" "p.Ile398_Arg399insSHGCSSSCPHLLPGC" "9i" "0000908423" "00006594" "50" "1335" "1600" "1335" "1600" "c.1335+1600C>G" "r.1335_1336=" "p.Lys445_Leu446=" "10i" "0000913086" "00025760" "50" "775" "0" "775" "0" "c.775T>C" "r.(?)" "p.(Phe259Leu)" "" "0000913086" "00006594" "50" "775" "0" "775" "0" "c.775T>C" "r.(?)" "p.(Phe259Leu)" "" "0000913087" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.(=)" "p.(=)" "" "0000913087" "00006594" "90" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(=)" "p.(=)" "" "0000924961" "00025760" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318His)" "" "0000924961" "00006594" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318His)" "" "0000924962" "00025760" "50" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Met564Val)" "" "0000924962" "00006594" "50" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Met564Val)" "" "0000924963" "00025760" "50" "5007" "0" "5007" "0" "c.*2412A>G" "r.(=)" "p.(=)" "" "0000924963" "00006594" "50" "5007" "0" "5007" "0" "c.*2412A>G" "r.(=)" "p.(=)" "" "0000924964" "00025760" "50" "5541" "0" "5541" "0" "c.*2946G>A" "r.(=)" "p.(=)" "" "0000924964" "00006594" "50" "5541" "0" "5541" "0" "c.*2946G>A" "r.(=)" "p.(=)" "" "0000927810" "00006594" "90" "112" "0" "120" "0" "c.112_120delinsAGCGGCCAC" "r.(?)" "p.(Gly38_Gln40delinsSerGlyHis)" "" "0000927811" "00006594" "90" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Glu153Lys)" "" "0000927812" "00006594" "90" "193" "0" "193" "0" "c.193A>C" "r.(?)" "p.(Thr65Pro)" "" "0000927813" "00006594" "90" "727" "0" "744" "0" "c.727_744del" "r.(?)" "p.(Asp243_Ile248del)" "" "0000929538" "00025760" "30" "1493" "3" "1493" "3" "c.1493+3G>A" "r.spl?" "p.?" "" "0000929538" "00006594" "30" "1493" "3" "1493" "3" "c.1493+3G>A" "r.spl?" "p.?" "" "0000929539" "00025760" "50" "6924" "0" "6924" "0" "c.*4329G>A" "r.(=)" "p.(=)" "" "0000929539" "00006594" "50" "6924" "0" "6924" "0" "c.*4329G>A" "r.(=)" "p.(=)" "" "0000936435" "00006594" "70" "1168" "0" "1168" "0" "c.1168T>G" "r.(?)" "p.(Tyr390Asp)" "" "0000978405" "00025760" "50" "-24975" "0" "-24975" "0" "c.-24975A>G" "r.(?)" "p.(=)" "" "0000978405" "00006594" "50" "-24975" "0" "-24975" "0" "c.-24975A>G" "r.(?)" "p.(=)" "" "0000978406" "00025760" "50" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Cys)" "" "0000978406" "00006594" "50" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Cys)" "" "0000978407" "00025760" "50" "1422" "9" "1422" "9" "c.1422+9C>T" "r.(=)" "p.(=)" "" "0000978407" "00006594" "50" "1422" "9" "1422" "9" "c.1422+9C>T" "r.(=)" "p.(=)" "" "0000978408" "00025760" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" "" "0000978408" "00006594" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" "" "0000997503" "00025760" "30" "224" "0" "224" "0" "c.224A>G" "r.(?)" "p.(Asn75Ser)" "" "0000997503" "00006594" "30" "224" "0" "224" "0" "c.224A>G" "r.(?)" "p.(Asn75Ser)" "" "0000997504" "00025760" "50" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271His)" "" "0000997504" "00006594" "50" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271His)" "" "0000997505" "00025760" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000997505" "00006594" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000997506" "00025760" "50" "1196" "1455" "1196" "1455" "c.1196+1455C>T" "r.(=)" "p.(=)" "" "0000997506" "00006594" "50" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421*)" "" "0000997507" "00025760" "30" "1273" "0" "1273" "0" "c.1273A>G" "r.(?)" "p.(Ile425Val)" "" "0000997507" "00006594" "30" "1335" "1722" "1335" "1722" "c.1335+1722A>G" "r.(=)" "p.(=)" "" "0000997508" "00025760" "30" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Gln448Arg)" "" "0000997508" "00006594" "30" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Gln448Arg)" "" "0000997509" "00025760" "30" "2138" "0" "2138" "0" "c.2138C>T" "r.(?)" "p.(Thr713Met)" "" "0000997509" "00006594" "30" "2138" "0" "2138" "0" "c.2138C>T" "r.(?)" "p.(Thr713Met)" "" "0000997510" "00025760" "50" "2201" "0" "2201" "0" "c.2201C>T" "r.(?)" "p.(Ala734Val)" "" "0000997510" "00006594" "50" "2201" "0" "2201" "0" "c.2201C>T" "r.(?)" "p.(Ala734Val)" "" "0000997511" "00025760" "50" "2568" "0" "2568" "0" "c.2568G>C" "r.(?)" "p.(Glu856Asp)" "" "0000997511" "00006594" "50" "2568" "0" "2568" "0" "c.2568G>C" "r.(?)" "p.(Glu856Asp)" "" "0000997512" "00025760" "30" "2582" "0" "2582" "0" "c.2582C>G" "r.(?)" "p.(Pro861Arg)" "" "0000997512" "00006594" "30" "2582" "0" "2582" "0" "c.2582C>G" "r.(?)" "p.(Pro861Arg)" "" "0001016071" "00006594" "50" "394" "0" "394" "0" "c.394C>A" "r.(?)" "p.(Leu132Met)" "" "0001019114" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.spl" "p.?" "" "0001019114" "00006594" "50" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "" "0001019122" "00025760" "90" "1197" "-8" "1197" "-8" "c.1197-8G>A" "r.spl" "p.?" "" "0001019122" "00006594" "50" "1335" "1638" "1335" "1638" "c.1335+1638G>A" "r.(?)" "p.(=)" "" "0001037190" "00025760" "30" "1558" "-47" "1558" "-47" "c.1558-47G>T" "r.(=)" "p.(=)" "" "0001037190" "00006594" "30" "1558" "-47" "1558" "-47" "c.1558-47G>T" "r.(=)" "p.(=)" "" "0001037191" "00025760" "50" "2164" "0" "2164" "0" "c.2164G>T" "r.(?)" "p.(Ala722Ser)" "" "0001037191" "00006594" "50" "2164" "0" "2164" "0" "c.2164G>T" "r.(?)" "p.(Ala722Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000050318" "0000079298" "0000050524" "0000079504" "0000050527" "0000079507" "0000089358" "0000147295" "0000295913" "0000652602" "0000304195" "0000667608" "0000375908" "0000787259" "0000427369" "0000904727" "0000427370" "0000904728" "0000427371" "0000904729" "0000427372" "0000904730" "0000427373" "0000904731" "0000427374" "0000904732" "0000427375" "0000904733" "0000427376" "0000904734" "0000427377" "0000904735" "0000427378" "0000904736" "0000427379" "0000904737" "0000429009" "0000908423" "0000436694" "0000927810" "0000436695" "0000927811" "0000436696" "0000927812" "0000436697" "0000927813" "0000440140" "0000936435" "0000460145" "0001019114" "0000460149" "0001019122"