### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VPS13D) # 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}}" "VPS13D" "vacuolar protein sorting 13 homolog D (S. cerevisiae)" "1" "p36.21" "unknown" "NC_000001.10" "UD_132319018809" "" "https://www.LOVD.nl/VPS13D" "" "1" "23595" "55187" "608877" "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/VPS13D_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "02465" "2018-07-26 15:59:09" "00006" "2025-12-19 18:53:31" ## 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}}" "00022637" "VPS13D" "transcript variant 1" "001" "NM_015378.2" "" "NP_056193.2" "" "" "" "-141" "16188" "13167" "12290113" "12572099" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "01451" "DYT11" "dystonia, myoclonic, type 11 (DYT11)" "AD" "159900" "" "myoclonic jerks affecting mostly proximal muscles; dystonia, usually torticollis or writer\'s cramp, observed in most patients, occasionally the only symptom; onset usually first or second decade; symptoms often respond to alcohol, patients may have psychiatric abnormalities" "maternal inheritance most without clinical symptoms" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05355" "spastic ataxia" "ataxia, spastic" "" "" "" "" "" "00006" "2017-12-21 19:09:00" "" "" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05995" "SCAR4" "Spinocerebellar ataxia, autosomal recessive 4" "AR" "607317" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VPS13D" "05995" ## 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}}" "00029649" "" "" "" "5" "" "00006" "{PMID:Groen 2015:25296916}" "4-generation famil, 5 affecteds (4F, 1M)" "" "no" "Netherlands" "" "0" "" "" "" "" "00168054" "" "" "" "2" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "M" "" "Canada" "31y" "0" "" "" "French Canadian" "0000178601" "00168055" "" "" "" "5" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "M" "" "Slovenia" "54y" "0" "" "" "" "UM1.1" "00168056" "" "" "00168055" "1" "" "02465" "{PMID:Seong 2018:29604224}" "" "M" "" "Slovenia" "52y" "0" "" "" "" "UM1.2" "00168057" "" "" "00168055" "1" "" "02465" "{PMID:Seong 2018:29604224}" "" "F" "" "Slovenia" "50y" "0" "" "" "" "UM1.3" "00168058" "" "" "00168055" "1" "" "02465" "{PMID:Seong 2018:29604224}" "" "M" "" "Slovenia" "49y" "0" "" "" "" "UM1.4" "00168059" "" "" "00168055" "1" "" "02465" "{PMID:Seong 2018:29604224}" "" "M" "" "Slovenia" "47y" "0" "" "" "" "UM1.5" "00168060" "" "" "" "2" "" "02465" "{PMID:Seong 2018:29604224}" "" "F" "" "Germany" "35y" "0" "" "" "" "LUB1.1" "00170838" "" "" "00168060" "1" "" "02465" "{PMID:Seong 2018:29604224}" "" "F" "" "Germany" "29y" "0" "" "" "" "LUB1.2" "00170840" "" "" "" "2" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "M" "" "Italy" "31y" "0" "" "" "" "0000178605" "00170841" "" "" "00170840" "1" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "F" "" "Italy" "29y" "0" "" "" "" "0000178606" "00170842" "" "" "00168054" "1" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "M" "" "Canada" "33y" "0" "" "" "French Canadian" "0000178602" "00170843" "" "" "" "1" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "F" "" "Egypt" "09y" "0" "" "" "" "0000178603" "00170844" "" "" "" "1" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "F" "" "" "03y" "0" "" "" "European" "0000178604" "00170845" "" "" "" "1" "" "02465" "{PMID:Gauthier 2018:29518281}" "" "F" "" "" "00y22m" "0" "" "" "Italian, Welsh, Irish, Yougoslavian, African American" "0000178607" "00174860" "" "" "" "1" "" "02465" "{PMID:Seong E 2018:29604228}" "" "M" "" "Netherlands" "43y" "0" "" "" "" "NIJ 1" "00176991" "" "" "" "1" "" "02465" "{PMID:Seong E 2018:29604230}" "" "F" "" "Indonesia" "29y" "0" "" "" "Javanese" "NIJ 2" "00176992" "" "" "" "1" "" "02465" "{PMID:Seong E:29604232}" "" "M" "" "Netherlands" "37y" "0" "" "" "" "NIJ 3" "00177026" "" "" "" "1" "" "02465" "" "" "F" "" "Netherlands" "06y" "0" "" "" "" "NIJ 4" "00177027" "" "" "" "1" "" "02465" "{PMID:Seong E 2018:29604236}" "" "F" "" "" "02y" "0" "" "" "white" "WF1" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00427988" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "A066" "00443442" "" "" "" "1" "" "00006" "{PMID:Pauly 2023:36768210}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Germany" "" "0" "" "" "" "Fam1PatII1" "00443443" "" "" "" "1" "" "00006" "{PMID:Pauly 2023:36768210}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "" "" "" "0" "" "" "" "Fam2PatII1" "00454829" "" "" "" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "" "F" "yes" "Netherlands" "" "0" "" "" "" "Pat3" "00471306" "" "" "" "2" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, affected sib, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "IS-DYS-454" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00029649" "01451" "00168054" "05355" "00168055" "05356" "00168056" "05356" "00168057" "05356" "00168058" "05356" "00168059" "05356" "00168060" "05355" "00170838" "05355" "00170840" "00108" "00170841" "00108" "00170842" "05355" "00170843" "00108" "00170844" "00108" "00170845" "05356" "00174860" "05355" "00176991" "00325" "00176992" "05355" "00177026" "05356" "00177027" "05356" "00390029" "04214" "00427988" "00198" "00443442" "00198" "00443443" "00198" "00454829" "05611" "00471306" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 00325, 01451, 04214, 05355, 05356, 05611, 05995 ## Count = 27 "{{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}}" "0000025672" "01451" "00029649" "00006" "Familial, autosomal dominant" "" "see paper; cervical/axial dystonia at\r\nrest, writer’s cramp, action-induced foot dystonia with walking, myoclonic jerks legs/arms, increasing with action, positive effect of alcohol on jerks, complaints of hyperventilation or panic attacks; high-frequency continuous myoclonus legs while standing, causing unsteadiness; 3/5 cases cardiac arrhythmias, attacks of painful cramps upper/lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000132919" "05355" "00168054" "02465" "Familial, autosomal recessive" "31y" "Gait instability, chorea, dysarthria" "02y" "" "" "" "" "" "" "" "" "Spastic ataxia with mild ID" "" "0000135700" "05355" "00170838" "02465" "Familial, autosomal recessive" "" "Gait instability, chorea, dysarthria, Mild Intellectual Disability, Dystonia" "02y" "" "" "" "" "" "" "" "" "" "" "0000135701" "05355" "00170842" "02465" "Familial, autosomal recessive" "" "Gait instability, Mild Intellectual Disability" "04y?" "" "" "" "" "" "" "" "" "" "" "0000135702" "00108" "00170843" "02465" "Familial, autosomal recessive" "" "Gait instability, Ataxia, muscle weakness, Mild Intellectual Disability, Motor delay" "01y?" "" "" "" "" "" "" "" "" "" "" "0000135703" "00108" "00170844" "02465" "Familial, autosomal recessive" "" "Generalized dystonia and chorea, Global developmental delay" "00y06m" "" "" "" "" "" "" "" "" "" "" "0000135704" "00108" "00170840" "02465" "Familial, autosomal recessive" "" "Mild Upper Limb Tremor, Lower Limb pyramidal signs" "12y" "" "" "" "" "" "" "" "" "" "" "0000135705" "00108" "00170841" "02465" "Familial, autosomal recessive" "" "Upper limb tremor, Spastic paraparesis and dystonia, gait scissoring" "06y?" "" "" "" "" "" "" "" "" "" "" "0000135706" "05356" "00170845" "02465" "Familial, autosomal recessive" "" "Hypotonia, Global Developmental Delay, microcephaly, ataxia" "00y01m?" "" "" "" "" "" "" "" "" "Hypotonia" "" "0000135718" "05356" "00168055" "02465" "Familial, autosomal recessive" "" "Cerebellar ataxia, Gait and Reading difficulties, Dysarthria, LL & UL ataxia, Mild cerebellar atrophy" "39y" "" "" "" "" "" "" "" "" "" "" "0000138574" "05356" "00168056" "02465" "Familial, autosomal recessive" "" "Mild Cerebellar atrophy, Dysarthria, UL & LL ataxia" "36y" "" "" "" "" "" "" "" "" "Cerebellar Ataxia" "" "0000138575" "05356" "00168057" "02465" "Familial, autosomal recessive" "" "Mild cerebellar atrophy, Dysarthria, UL & LL ataxia" "28y" "" "" "" "" "" "" "" "" "Cerebellar Ataxia" "" "0000138576" "05356" "00168058" "02465" "Familial, autosomal recessive" "" "Mild cerebellar atrophy, Dysarthria, UL & LL ataxia" "23y" "" "" "" "" "" "" "" "" "Cerebellar Ataxia" "" "0000138577" "05356" "00168059" "02465" "Familial, autosomal recessive" "" "Reading difficulty, dysarthria, UL & LL ataxia," "34y" "" "" "" "" "" "" "" "" "Cerebellar Ataxia" "" "0000138578" "05356" "00168060" "02465" "Familial, autosomal recessive" "" "Saccadic pursuit, UL & LL ataxia , LL spasticity, Mild executive dysfunction" "29y" "" "" "" "" "" "" "" "" "Spastic Ataxia" "" "0000138579" "05355" "00170838" "02465" "Familial, autosomal recessive" "" "Gait and speech difficulties, Saccadic pursuit, UL & LL ataxia, LL spasticity, wheelchair, Normal cognitive state" "20y" "" "" "" "" "" "" "" "" "Spastic Ataxia" "" "0000139685" "05355" "00174860" "02465" "Familial, autosomal recessive" "" "Delayed walking, spastic gait" "<05y" "" "" "" "" "" "" "" "" "Spastic ataxia" "" "0000141810" "00325" "00176991" "02465" "Familial, autosomal recessive" "" "Gait difficulties, spastic paraplegia" "28y" "" "" "" "" "" "" "" "" "Spastic paraplegia" "" "0000141811" "05355" "00176992" "02465" "Familial, autosomal recessive" "" "Delayed walking, abnormal gait, Cervical Dystonia" "<03y" "" "" "" "" "" "" "" "" "Spastic Ataxia" "" "0000141837" "05356" "00177026" "02465" "Familial, autosomal recessive" "" "Developpemental delay, Mild ID, Cerebellar atrophy" "<01y" "" "" "" "" "" "" "" "" "Ataxia and Neuropathy" "" "0000141838" "05356" "00177027" "02465" "Familial, autosomal recessive" "02y" "Delayed gross motor skills," "<01y" "" "" "" "" "" "" "" "" "Hypotonia" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000318934" "00198" "00427988" "00006" "Familial, autosomal recessive" "15y" "atypical spinocerebellar ataxia" "" "" "" "" "" "" "" "" "" "spinocerebellar ataxia" "" "0000332783" "00198" "00443442" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., normal cognitive development, normal motor development; 6y-unsteady gait; 8y-pointed feet; 17y-symptoms slowly progressed, started to use wheelchair, tremor, ataxia upper extremities progressing, spreading to head, trunk, legs significantly affecting daily activities" "06y" "" "unsteady gait" "" "" "" "" "" "" "unsteady gait" "" "0000332784" "00198" "00443443" "00006" "Familial, autosomal recessive" "68y" "see paper; ..., 45y-progressing walking difficulties, resulting in inability to run, give up playing golf; stiffness, difficulty in walking/running, recurrent falls; 68y-bilateral spastic paraplegia lower limbs associated with pyramidal weakness, brisk reflexes, upward plantars, neurogenic bladder/bowel, able to mobilize independently, uses functional electrical stimulator" "45y" "" "walking difficulties" "" "" "" "" "" "" "walking difficulties" "" "0000343439" "05611" "00454829" "00006" "Familial, autosomal recessive" "1d" "see paper; ..., axial hypotonia, leg spasticity, primary microcephaly, idiopathic short stature; MRI brain hypoplastic corpus callosum, decreased white matter" "" "" "" "" "" "" "" "" "SCAR4" "neurodevelopmental delay" "" "0000356143" "00108" "00471306" "00006" "Familial, autosomal recessive" "" "isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); focal dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "SCAR4" "dystonia" "" ## 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}}" "0000029692" "00029649" "1" "00006" "00006" "2015-01-24 17:58:59" "00006" "2015-01-24 18:35:12" "SEQ;SEQ-NG" "DNA" "" "" "0000171723" "00168054" "1" "02465" "02465" "2018-07-25 16:51:18" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171724" "00170842" "1" "02465" "02465" "2018-07-25 17:02:09" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171725" "00170843" "1" "02465" "02465" "2018-07-25 17:10:29" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171726" "00170844" "1" "02465" "02465" "2018-07-25 17:25:33" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171727" "00170840" "1" "02465" "02465" "2018-07-25 17:45:54" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171728" "00170841" "1" "02465" "02465" "2018-07-25 17:56:43" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171729" "00170845" "1" "02465" "02465" "2018-07-25 20:09:10" "" "" "SEQ-NG" "RNA" "Blood cells" "" "0000171739" "00168055" "1" "02465" "02465" "2018-07-26 22:42:54" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000174593" "00168056" "1" "02465" "02465" "2018-07-27 18:28:27" "" "" "SEQ-NG" "RNA" "" "" "0000174594" "00168057" "1" "02465" "02465" "2018-07-27 18:39:05" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000174595" "00168058" "1" "02465" "02465" "2018-07-27 18:51:09" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000174596" "00168059" "1" "02465" "02465" "2018-07-27 19:09:33" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000174597" "00168060" "1" "02465" "02465" "2018-07-27 20:42:47" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000174598" "00170838" "1" "02465" "02465" "2018-07-27 21:08:14" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000175751" "00174860" "1" "02465" "02465" "2018-08-13 17:51:06" "" "" "SEQ-NG" "RNA" "skin cells" "" "0000177881" "00176991" "1" "02465" "02465" "2018-08-14 21:11:43" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000177882" "00176992" "1" "02465" "02465" "2018-08-14 21:22:42" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000177922" "00177026" "1" "02465" "02465" "2018-08-16 18:01:38" "" "" "SEQ-NG" "RNA" "Skin (fibroblast)" "" "0000177923" "00177027" "1" "02465" "02465" "2018-08-16 22:24:55" "" "" "SEQ-NG" "RNA" "Blood" "" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000429401" "00427988" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, fibroblasts, urothelial cells" "trio WES" "0000444931" "00443442" "1" "00006" "00006" "2023-11-26 13:44:34" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000444932" "00443443" "1" "00006" "00006" "2023-11-26 14:02:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456440" "00454829" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio, region of homozygosity" "0000472976" "00471306" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000029692" "CACNA1B" "0000029692" "SPTAN1" "0000029692" "VPS13D" "0000391270" "NMNAT1" "0000444931" "VPS13D" ## 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 = 139 "{{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}}" "0000053075" "1" "30" "1" "12423210" "12423210" "subst" "0" "00006" "VPS13D_000001" "g.12423210A>G" "" "{PMID:Groen 2015:25296916}" "" "NM_015378:c.10355A>G" "not in 1520 control chromosomes" "Germline" "" "" "0" "" "" "g.12363154A>G" "" "likely benign" "" "0000319738" "0" "30" "1" "12476836" "12476836" "subst" "0" "01943" "VPS13D_000005" "g.12476836C>T" "" "" "" "VPS13D(NM_015378.4):c.12289C>T (p.L4097F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12416783C>T" "" "likely benign" "" "0000319739" "0" "30" "1" "12328824" "12328824" "subst" "0" "01943" "VPS13D_000002" "g.12328824C>T" "" "" "" "VPS13D(NM_015378.4):c.1863C>T (p.H621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12268767C>T" "" "likely benign" "" "0000344707" "0" "50" "1" "12382602" "12382602" "subst" "0" "02327" "VPS13D_000007" "g.12382602C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12322545C>T" "" "VUS" "" "0000346066" "0" "50" "1" "12516165" "12516165" "subst" "0" "02327" "VPS13D_000009" "g.12516165G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12456109G>A" "" "VUS" "" "0000350718" "0" "70" "1" "12317147" "12317147" "subst" "0" "02327" "VPS13D_000006" "g.12317147A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12257090A>G" "" "likely pathogenic" "" "0000392067" "0" "70" "1" "12378314" "12378315" "del" "0" "02465" "VPS13D_000010" "g.12378314_12378315del" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12318257_12318258del" "" "likely pathogenic" "" "0000392068" "0" "70" "1" "12428636" "12428636" "subst" "0" "02465" "VPS13D_000011" "g.12428636A>G" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12368581A>G" "" "likely pathogenic" "" "0000392069" "0" "70" "1" "12378314" "12378315" "del" "0" "02465" "VPS13D_000010" "g.12378314_12378315del" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12318257_12318258del" "" "likely pathogenic" "" "0000392070" "0" "70" "1" "12428636" "12428636" "subst" "0" "02465" "VPS13D_000011" "g.12428636A>G" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12368581A>G" "" "likely pathogenic" "" "0000392071" "0" "70" "1" "12557574" "12557574" "subst" "0" "02465" "VPS13D_000012" "g.12557574G>A" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12497520G>A" "" "likely pathogenic" "" "0000392072" "0" "70" "1" "12557574" "12557574" "subst" "0" "02465" "VPS13D_000012" "g.12557574G>A" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12497520G>A" "" "likely pathogenic" "" "0000392073" "0" "70" "1" "12353487" "12374594" "dup" "0" "02465" "VPS13D_000013" "g.12353487_12374594dup" "" "{PMID:Gauthier 2018:29518281}" "" "" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000392074" "0" "70" "1" "12401909" "12401909" "subst" "0" "02465" "VPS13D_000014" "g.12401909T>C" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12341852T>C" "" "likely pathogenic" "" "0000392075" "0" "70" "1" "12429643" "12429667" "dup" "0" "02465" "VPS13D_000015" "g.12429643_12429667dup" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12369588_12369612dup" "" "likely pathogenic" "" "0000392076" "0" "70" "1" "12416034" "12416034" "subst" "4.06769E-6" "02465" "VPS13D_000016" "g.12416034G>A" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12355977G>A" "" "likely pathogenic" "" "0000392077" "0" "70" "1" "12429643" "12429667" "dup" "0" "02465" "VPS13D_000015" "g.12429643_12429667dup" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12369588_12369612dup" "" "likely pathogenic" "" "0000392078" "0" "70" "1" "12416034" "12416034" "subst" "4.06769E-6" "02465" "VPS13D_000016" "g.12416034G>A" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline" "" "" "0" "" "" "g.12355977G>A" "" "likely pathogenic" "" "0000392079" "0" "70" "1" "12336238" "12336238" "subst" "0" "02465" "VPS13D_000017" "g.12336238A>G" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12276181A>G" "" "likely pathogenic" "" "0000392080" "0" "70" "1" "12337244" "12337244" "subst" "4.06554E-6" "02465" "VPS13D_000018" "g.12337244G>A" "" "{PMID:Gauthier 2018:29518281}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12277187G>A" "" "likely pathogenic" "" "0000392093" "0" "70" "1" "12337214" "12337214" "subst" "0" "02465" "VPS13D_000019" "g.12337214G>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12277157G>A" "" "likely pathogenic" "" "0000392094" "0" "70" "1" "12336961" "12336961" "subst" "0" "02465" "VPS13D_000020" "g.12336961C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12276904C>T" "" "likely pathogenic" "" "0000394365" "0" "70" "1" "12337214" "12337214" "subst" "0" "02465" "VPS13D_000019" "g.12337214G>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12277157G>A" "" "likely pathogenic" "" "0000394366" "0" "70" "1" "12336961" "12336961" "subst" "0" "02465" "VPS13D_000020" "g.12336961C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12276904C>T" "" "likely pathogenic" "" "0000394367" "0" "70" "1" "12337214" "12337214" "subst" "0" "02465" "VPS13D_000019" "g.12337214G>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12277157G>A" "" "likely pathogenic" "" "0000394368" "0" "70" "1" "12336961" "12336961" "subst" "0" "02465" "VPS13D_000020" "g.12336961C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12276904C>T" "" "likely pathogenic" "" "0000394369" "0" "70" "1" "12337214" "12337214" "subst" "0" "02465" "VPS13D_000019" "g.12337214G>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12277157G>A" "" "likely pathogenic" "" "0000394370" "0" "70" "1" "12336961" "12336961" "subst" "0" "02465" "VPS13D_000020" "g.12336961C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12276904C>T" "" "likely pathogenic" "" "0000394371" "0" "70" "1" "12337214" "12337214" "subst" "0" "02465" "VPS13D_000019" "g.12337214G>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12277157G>A" "" "likely pathogenic" "" "0000394372" "0" "70" "1" "12336961" "12336961" "subst" "0" "02465" "VPS13D_000020" "g.12336961C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12276904C>T" "" "likely pathogenic" "" "0000394373" "0" "70" "1" "12520418" "12520418" "subst" "4.14151E-5" "02465" "VPS13D_000021" "g.12520418C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12460363C>T" "" "likely pathogenic" "" "0000394374" "0" "70" "1" "12343568" "12343568" "subst" "0" "02465" "VPS13D_000022" "g.12343568C>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12283511C>A" "" "likely pathogenic" "" "0000394375" "0" "70" "1" "12520418" "12520418" "subst" "4.14151E-5" "02465" "VPS13D_000021" "g.12520418C>T" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12460363C>T" "" "likely pathogenic" "" "0000394376" "0" "70" "1" "12343568" "12343568" "subst" "0" "02465" "VPS13D_000022" "g.12343568C>A" "" "{PMID:Seong 2018:29604224}" "" "" "" "Germline" "" "" "0" "" "" "g.12283511C>A" "" "likely pathogenic" "" "0000398617" "0" "70" "1" "12331062" "12331062" "subst" "0" "02465" "VPS13D_000023" "g.12331062C>T" "" "{PMID:Seong E 2018:29604228}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12271005C>T" "" "likely pathogenic" "" "0000398618" "0" "70" "1" "12337564" "12337564" "subst" "4.071E-6" "02465" "VPS13D_000024" "g.12337564A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12277507A>T" "" "likely pathogenic" "" "0000400753" "0" "70" "1" "12516165" "12516165" "subst" "0" "02465" "VPS13D_000009" "g.12516165G>A" "" "{PMID:Seong E:29604230}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12456109G>A" "" "likely pathogenic" "" "0000400754" "0" "70" "1" "12382602" "12382602" "subst" "0" "02465" "VPS13D_000007" "g.12382602C>T" "" "{PMID:Seong E:29604231}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12322545C>T" "" "likely pathogenic" "" "0000400756" "0" "50" "1" "12317147" "12317147" "subst" "0" "02465" "VPS13D_000006" "g.12317147A>G" "" "{PMID:Seong E:29604233}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12257090A>G" "" "VUS" "" "0000400799" "0" "70" "1" "12405505" "12405505" "del" "0" "02465" "VPS13D_000025" "g.12405505delTG" "" "{PMID:Seong E 2018:29604232}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000400802" "0" "70" "1" "12476867" "12476867" "subst" "0" "02465" "VPS13D_000026" "g.12476867A>T" "" "{PMID:Seong E 2018:29604234}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12416814A>T" "" "likely pathogenic" "" "0000400803" "0" "50" "1" "12335881" "12335881" "subst" "0" "02465" "VPS13D_000027" "g.12335881G>C" "" "{PMID:Seong E 2018:29604235}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12275824G>C" "" "VUS" "" "0000400804" "0" "70" "1" "12406585" "12406585" "subst" "0" "02465" "VPS13D_000028" "g.12406585A>C" "" "{PMID:Seong E 2018 :29604236)" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000400805" "0" "90" "1" "12371876" "12371876" "del" "0" "02465" "VPS13D_000029" "g.12371876del" "" "{PMID:Seong E 2018: 29604237)" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.12311819del" "" "pathogenic" "" "0000502828" "0" "30" "1" "12309404" "12309404" "subst" "2.51069E-5" "01943" "VPS13D_000030" "g.12309404T>A" "" "" "" "VPS13D(NM_015378.4):c.564+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12249347T>A" "" "likely benign" "" "0000502829" "0" "30" "1" "12318079" "12318079" "subst" "0.00261591" "01943" "VPS13D_000031" "g.12318079G>A" "" "" "" "VPS13D(NM_015378.4):c.1029G>A (p.L343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12258022G>A" "" "likely benign" "" "0000502830" "0" "30" "1" "12321134" "12321134" "subst" "0.000520313" "01943" "VPS13D_000032" "g.12321134A>G" "" "" "" "VPS13D(NM_015378.2):c.1342A>G (p.(Thr448Ala)), VPS13D(NM_015378.4):c.1342A>G (p.T448A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12261077A>G" "" "likely benign" "" "0000502831" "0" "50" "1" "12326967" "12326967" "subst" "0" "01943" "VPS13D_000033" "g.12326967C>T" "" "" "" "VPS13D(NM_015378.4):c.1624C>T (p.R542*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12266910C>T" "" "VUS" "" "0000502832" "0" "50" "1" "12335881" "12335881" "subst" "0" "02327" "VPS13D_000027" "g.12335881G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12275824G>C" "" "VUS" "" "0000502834" "0" "50" "1" "12337667" "12337667" "subst" "0.00287342" "01943" "VPS13D_000035" "g.12337667C>T" "" "" "" "VPS13D(NM_015378.4):c.4022C>T (p.S1341L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12277610C>T" "" "VUS" "" "0000502836" "0" "50" "1" "12371605" "12371605" "subst" "8.12757E-6" "01943" "VPS13D_000036" "g.12371605G>A" "" "" "" "VPS13D(NM_015378.4):c.6745G>A (p.G2249S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12311548G>A" "" "VUS" "" "0000502837" "0" "30" "1" "12378223" "12378223" "subst" "0.00173477" "01804" "VPS13D_000037" "g.12378223C>T" "" "" "" "VPS13D(NM_015378.2):c.7243C>T (p.(His2415Tyr)), VPS13D(NM_015378.4):c.7243C>T (p.H2415Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12318166C>T" "" "likely benign" "" "0000502838" "0" "50" "1" "12381893" "12381893" "subst" "4.1641E-5" "02325" "VPS13D_000038" "g.12381893C>T" "" "" "" "VPS13D(NM_015378.4):c.7576C>T (p.H2526Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12321836C>T" "" "VUS" "" "0000502839" "0" "50" "1" "12382005" "12382005" "subst" "4.07315E-6" "01943" "VPS13D_000039" "g.12382005T>A" "" "" "" "VPS13D(NM_015378.4):c.7688T>A (p.F2563Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12321948T>A" "" "VUS" "" "0000502840" "0" "30" "1" "12389982" "12389982" "subst" "0.000293786" "01943" "VPS13D_000040" "g.12389982A>G" "" "" "" "VPS13D(NM_015378.4):c.8287+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12329925A>G" "" "likely benign" "" "0000502841" "0" "30" "1" "12393329" "12393329" "subst" "0.000548638" "01943" "VPS13D_000041" "g.12393329A>G" "" "" "" "VPS13D(NM_015378.4):c.8334A>G (p.Q2778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12333272A>G" "" "likely benign" "" "0000502842" "0" "30" "1" "12393358" "12393358" "subst" "8.12671E-6" "01943" "VPS13D_000042" "g.12393358C>G" "" "" "" "VPS13D(NM_015378.4):c.8363C>G (p.P2788R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12333301C>G" "" "likely benign" "" "0000502843" "0" "50" "1" "12422803" "12422803" "subst" "4.06171E-5" "02325" "VPS13D_000043" "g.12422803G>A" "" "" "" "VPS13D(NM_015378.4):c.10169G>A (p.R3390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12362747G>A" "" "VUS" "" "0000502844" "0" "30" "1" "12423163" "12423163" "subst" "0.000105618" "01943" "VPS13D_000044" "g.12423163T>C" "" "" "" "VPS13D(NM_015378.4):c.10308T>C (p.L3436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12363107T>C" "" "likely benign" "" "0000502845" "0" "30" "1" "12463870" "12463870" "subst" "0.00254294" "01804" "VPS13D_000045" "g.12463870T>C" "" "" "" "VPS13D(NM_015378.2):c.11882-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12403817T>C" "" "likely benign" "" "0000502846" "0" "50" "1" "12476867" "12476867" "subst" "0" "02327" "VPS13D_000026" "g.12476867A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12416814A>T" "" "VUS" "" "0000502847" "0" "30" "1" "12520443" "12520443" "subst" "0" "02325" "VPS13D_000046" "g.12520443C>T" "" "" "" "VPS13D(NM_015378.4):c.12654C>T (p.S4218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12460388C>T" "" "likely benign" "" "0000604737" "0" "30" "1" "12322016" "12322016" "subst" "0.000199075" "01943" "VPS13D_000047" "g.12322016G>A" "" "" "" "VPS13D(NM_015378.4):c.1473G>A (p.K491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12261959G>A" "" "likely benign" "" "0000604738" "0" "30" "1" "12328814" "12328814" "subst" "5.69078E-5" "01943" "VPS13D_000048" "g.12328814C>T" "" "" "" "VPS13D(NM_015378.4):c.1853C>T (p.A618V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12268757C>T" "" "likely benign" "" "0000604739" "0" "50" "1" "12337883" "12337883" "subst" "8.12744E-6" "01943" "VPS13D_000049" "g.12337883G>A" "" "" "" "VPS13D(NM_015378.4):c.4238G>A (p.G1413E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12277826G>A" "" "VUS" "" "0000604740" "0" "50" "1" "12337901" "12337901" "subst" "0" "01943" "VPS13D_000050" "g.12337901G>T" "" "" "" "VPS13D(NM_015378.4):c.4256G>T (p.S1419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12277844G>T" "" "VUS" "" "0000604741" "0" "50" "1" "12343493" "12343493" "subst" "0.00193849" "01943" "VPS13D_000051" "g.12343493T>A" "" "" "" "VPS13D(NM_015378.4):c.5334T>A (p.S1778R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12283436T>A" "" "VUS" "" "0000604742" "0" "50" "1" "12343654" "12343654" "subst" "0" "02325" "VPS13D_000052" "g.12343654T>G" "" "" "" "VPS13D(NM_015378.4):c.5495T>G (p.F1832C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12283597T>G" "" "VUS" "" "0000604743" "0" "50" "1" "12353621" "12353621" "subst" "0" "02325" "VPS13D_000053" "g.12353621A>T" "" "" "" "VPS13D(NM_015378.4):c.5893A>T (p.I1965F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12293564A>T" "" "VUS" "" "0000604744" "0" "30" "1" "12405573" "12405573" "subst" "4.07295E-6" "01943" "VPS13D_000055" "g.12405573G>A" "" "" "" "VPS13D(NM_015378.4):c.9021+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12345516G>A" "" "likely benign" "" "0000604745" "0" "30" "1" "12520436" "12520436" "subst" "0.000945019" "01943" "VPS13D_000057" "g.12520436C>T" "" "" "" "VPS13D(NM_015378.2):c.12647C>T (p.(Thr4216Ile)), VPS13D(NM_015378.4):c.12647C>T (p.T4216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12460381C>T" "" "likely benign" "" "0000620375" "0" "50" "1" "12401888" "12401888" "subst" "0" "01943" "VPS13D_000054" "g.12401888G>A" "" "" "" "VPS13D(NM_015378.4):c.8678G>A (p.R2893K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12341831G>A" "" "VUS" "" "0000653628" "0" "50" "1" "12304354" "12304354" "subst" "5.28138E-5" "01943" "VPS13D_000058" "g.12304354A>G" "" "" "" "VPS13D(NM_015378.4):c.227A>G (p.D76G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12244297A>G" "" "VUS" "" "0000653629" "0" "50" "1" "12343686" "12343686" "subst" "4.47595E-5" "01943" "VPS13D_000059" "g.12343686G>A" "" "" "" "VPS13D(NM_015378.4):c.5527G>A (p.A1843T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12283629G>A" "" "VUS" "" "0000653630" "0" "50" "1" "12398365" "12398365" "subst" "0" "01943" "VPS13D_000060" "g.12398365A>G" "" "" "" "VPS13D(NM_015378.4):c.8626+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12338308A>G" "" "VUS" "" "0000653631" "0" "50" "1" "12520393" "12520393" "subst" "0" "01943" "VPS13D_000061" "g.12520393G>A" "" "" "" "VPS13D(NM_015378.4):c.12604G>A (p.D4202N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12460338G>A" "" "VUS" "" "0000653632" "0" "50" "1" "12557597" "12557597" "subst" "0" "02325" "VPS13D_000062" "g.12557597C>T" "" "" "" "VPS13D(NM_015378.4):c.12706C>T (p.P4236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12497543C>T" "" "VUS" "" "0000675446" "0" "50" "1" "12343459" "12343459" "subst" "0.00047544" "01943" "VPS13D_000063" "g.12343459C>T" "" "" "" "VPS13D(NM_015378.4):c.5300C>T (p.T1767I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675447" "0" "30" "1" "12378274" "12378274" "subst" "0.00219334" "01943" "VPS13D_000064" "g.12378274C>T" "" "" "" "VPS13D(NM_015378.4):c.7294C>T (p.R2432C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675448" "0" "90" "1" "12409421" "12409421" "subst" "0" "02327" "VPS13D_000065" "g.12409421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687843" "0" "50" "1" "12321211" "12321211" "subst" "0.000330394" "02325" "VPS13D_000066" "g.12321211G>A" "" "" "" "VPS13D(NM_015378.4):c.1414+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687844" "0" "50" "1" "12389963" "12389963" "subst" "0.000101681" "01943" "VPS13D_000067" "g.12389963C>T" "" "" "" "VPS13D(NM_015378.4):c.8275C>T (p.R2759C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716753" "0" "30" "1" "12337753" "12337753" "subst" "8.12711E-6" "01943" "VPS13D_000068" "g.12337753T>C" "" "" "" "VPS13D(NM_015378.4):c.4108T>C (p.L1370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716754" "0" "30" "1" "12342782" "12342782" "subst" "4.08323E-6" "01943" "VPS13D_000069" "g.12342782A>G" "" "" "" "VPS13D(NM_015378.4):c.4623A>G (p.V1541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716755" "0" "30" "1" "12343428" "12343428" "subst" "8.93996E-5" "01943" "VPS13D_000070" "g.12343428G>A" "" "" "" "VPS13D(NM_015378.2):c.5269G>A (p.(Asp1757Asn)), VPS13D(NM_015378.4):c.5269G>A (p.D1757N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716756" "0" "30" "1" "12353626" "12353626" "subst" "0.000105925" "02325" "VPS13D_000071" "g.12353626C>T" "" "" "" "VPS13D(NM_015378.4):c.5898C>T (p.R1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716757" "0" "50" "1" "12359319" "12359319" "subst" "2.84676E-5" "02325" "VPS13D_000072" "g.12359319G>A" "" "" "" "VPS13D(NM_015378.4):c.6094G>A (p.V2032I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716758" "0" "50" "1" "12371674" "12371674" "subst" "4.06597E-6" "02325" "VPS13D_000073" "g.12371674A>G" "" "" "" "VPS13D(NM_015378.4):c.6814A>G (p.R2272G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716759" "0" "30" "1" "12378274" "12378274" "subst" "0.00219334" "02325" "VPS13D_000064" "g.12378274C>T" "" "" "" "VPS13D(NM_015378.4):c.7294C>T (p.R2432C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716760" "0" "30" "1" "12408891" "12408891" "subst" "0.000235901" "01943" "VPS13D_000074" "g.12408891C>A" "" "" "" "VPS13D(NM_015378.4):c.9081C>A (p.L3027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716761" "0" "50" "1" "12433896" "12433896" "subst" "0" "02325" "VPS13D_000075" "g.12433896G>A" "" "" "" "VPS13D(NM_015378.4):c.10900G>A (p.V3634I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716762" "0" "30" "1" "12557691" "12557694" "del" "0" "01943" "VPS13D_000076" "g.12557691_12557694del" "" "" "" "VPS13D(NM_015378.4):c.12794+4_12794+7delAGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798734" "0" "30" "1" "12331098" "12331098" "subst" "1.62686E-5" "01943" "VPS13D_000077" "g.12331098C>A" "" "" "" "VPS13D(NM_015378.4):c.2020C>A (p.R674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798735" "0" "30" "1" "12337464" "12337464" "subst" "3.66062E-5" "01943" "VPS13D_000078" "g.12337464G>A" "" "" "" "VPS13D(NM_015378.4):c.3819G>A (p.T1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798736" "0" "50" "1" "12353624" "12353624" "subst" "2.44487E-5" "02325" "VPS13D_000079" "g.12353624C>T" "" "" "" "VPS13D(NM_015378.4):c.5896C>T (p.R1966C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798737" "0" "30" "1" "12364656" "12364656" "subst" "0.00050806" "01943" "VPS13D_000080" "g.12364656G>A" "" "" "" "VPS13D(NM_015378.4):c.6310G>A (p.G2104R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798738" "0" "50" "1" "12378223" "12378223" "subst" "0.00173477" "02325" "VPS13D_000037" "g.12378223C>T" "" "" "" "VPS13D(NM_015378.2):c.7243C>T (p.(His2415Tyr)), VPS13D(NM_015378.4):c.7243C>T (p.H2415Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798739" "0" "50" "1" "12378388" "12378388" "subst" "0" "02325" "VPS13D_000081" "g.12378388G>A" "" "" "" "VPS13D(NM_015378.4):c.7408G>A (p.V2470I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798740" "0" "50" "1" "12389931" "12389931" "subst" "1.62596E-5" "02325" "VPS13D_000082" "g.12389931C>T" "" "" "" "VPS13D(NM_015378.4):c.8243C>T (p.A2748V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798741" "0" "30" "1" "12393279" "12393279" "subst" "0" "01943" "VPS13D_000083" "g.12393279T>C" "" "" "" "VPS13D(NM_015378.4):c.8288-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798742" "0" "30" "1" "12409014" "12409014" "subst" "0" "01943" "VPS13D_000084" "g.12409014C>T" "" "" "" "VPS13D(NM_015378.4):c.9204C>T (p.S3068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798743" "0" "30" "1" "12423276" "12423276" "subst" "0.00193309" "01943" "VPS13D_000085" "g.12423276A>T" "" "" "" "VPS13D(NM_015378.4):c.10421A>T (p.K3474M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798744" "0" "50" "1" "12445407" "12445407" "subst" "0.000329657" "01943" "VPS13D_000086" "g.12445407A>T" "" "" "" "VPS13D(NM_015378.4):c.11459A>T (p.N3820I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798745" "0" "50" "1" "12445407" "12445407" "subst" "0.000329657" "02325" "VPS13D_000086" "g.12445407A>T" "" "" "" "VPS13D(NM_015378.4):c.11459A>T (p.N3820I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798746" "0" "50" "1" "12461760" "12461760" "subst" "3.66092E-5" "01943" "VPS13D_000087" "g.12461760A>G" "" "" "" "VPS13D(NM_015378.4):c.11881+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" "" "0000848273" "0" "50" "1" "12333159" "12333159" "subst" "4.0626E-6" "01943" "VPS13D_000088" "g.12333159G>A" "" "" "" "VPS13D(NM_015378.4):c.2203G>A (p.D735N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848274" "0" "50" "1" "12337448" "12337448" "subst" "0" "01943" "VPS13D_000089" "g.12337448A>C" "" "" "" "VPS13D(NM_015378.4):c.3803A>C (p.E1268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848275" "0" "30" "1" "12364752" "12364752" "subst" "0.00013927" "01943" "VPS13D_000090" "g.12364752A>G" "" "" "" "VPS13D(NM_015378.4):c.6406A>G (p.T2136A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856935" "0" "50" "1" "12461730" "12461730" "subst" "3.24905E-5" "01943" "VPS13D_000091" "g.12461730T>A" "" "" "" "VPS13D(NM_015378.4):c.11854T>A (p.F3952I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882741" "0" "70" "1" "12406713" "12406713" "subst" "0" "02327" "VPS13D_000092" "g.12406713A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908874" "21" "70" "1" "12317147" "12317147" "subst" "0" "00006" "VPS13D_000006" "g.12317147A>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, intron retention; transcripts cycloheximide sensitive; residual normal splicing (two loss-of-function variants likely to be associated with embryonic lethality)" "Germline" "" "" "0" "" "" "g.12257090A>G" "" "pathogenic (recessive)" "" "0000908932" "11" "90" "1" "12422904" "12422904" "subst" "0" "00006" "VPS13D_000093" "g.12422904C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, intron retention; cycloheximide sensitive, cycloheximide sensitive" "Germline/De novo (untested)" "" "" "0" "" "" "g.12362848C>T" "" "pathogenic (recessive)" "" "0000910763" "0" "30" "1" "12443218" "12443218" "subst" "0.00108371" "02326" "VPS13D_000095" "g.12443218A>T" "" "" "" "VPS13D(NM_015378.4):c.11370+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910764" "0" "30" "1" "12567127" "12567127" "subst" "0.000922719" "02326" "VPS13D_000096" "g.12567127C>G" "" "" "" "VPS13D(NM_015378.4):c.13015C>G (p.P4339A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922933" "0" "30" "1" "12337888" "12337888" "subst" "0.00275277" "02326" "VPS13D_000097" "g.12337888G>A" "" "" "" "VPS13D(NM_015378.4):c.4243G>A (p.D1415N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927998" "0" "30" "1" "12336823" "12336823" "subst" "0.0017923" "02326" "VPS13D_000098" "g.12336823G>A" "" "" "" "VPS13D(NM_015378.4):c.3178G>A (p.D1060N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946867" "11" "90" "1" "12335881" "12335881" "subst" "0" "00006" "VPS13D_000099" "g.12335881G>A" "" "{PMID:Pauly 2023:36768210}" "" "" "" "Germline" "" "" "0" "" "" "g.12275824G>A" "" "pathogenic (recessive)" "" "0000946868" "21" "90" "1" "12317147" "12317147" "subst" "0" "00006" "VPS13D_000006" "g.12317147A>G" "" "{PMID:Pauly 2023:36768210}" "" "" "" "Germline" "" "" "0" "" "" "g.12257090A>G" "" "pathogenic (recessive)" "" "0000946869" "3" "90" "1" "12317147" "12317147" "subst" "0" "00006" "VPS13D_000006" "g.12317147A>G" "" "{PMID:Pauly 2023:36768210}" "" "" "" "Germline" "" "" "0" "" "" "g.12257090A>G" "" "pathogenic (recessive)" "" "0000946951" "0" "50" "1" "12321211" "12321211" "subst" "0.000330394" "02327" "VPS13D_000066" "g.12321211G>A" "" "" "" "VPS13D(NM_015378.4):c.1414+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946952" "0" "50" "1" "12343793" "12343793" "subst" "4.12919E-6" "02327" "VPS13D_000100" "g.12343793G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973260" "0" "30" "1" "12302577" "12302577" "subst" "8.12579E-5" "02326" "VPS13D_000102" "g.12302577T>C" "" "" "" "VPS13D(NM_015378.4):c.105T>C (p.V35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973261" "0" "50" "1" "12333181" "12333181" "subst" "0.000134158" "01804" "VPS13D_000103" "g.12333181C>T" "" "" "" "VPS13D(NM_015378.2):c.2225C>T (p.(Thr742Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990191" "0" "50" "1" "12318083" "12318083" "subst" "2.84331E-5" "02325" "VPS13D_000104" "g.12318083C>T" "" "" "" "VPS13D(NM_015378.4):c.1033C>T (p.R345C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990192" "0" "30" "1" "12321134" "12321134" "subst" "0.000520313" "01804" "VPS13D_000032" "g.12321134A>G" "" "" "" "VPS13D(NM_015378.2):c.1342A>G (p.(Thr448Ala)), VPS13D(NM_015378.4):c.1342A>G (p.T448A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990193" "0" "50" "1" "12343428" "12343428" "subst" "8.93996E-5" "01804" "VPS13D_000070" "g.12343428G>A" "" "" "" "VPS13D(NM_015378.2):c.5269G>A (p.(Asp1757Asn)), VPS13D(NM_015378.4):c.5269G>A (p.D1757N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990194" "0" "30" "1" "12382781" "12382781" "subst" "8.13114E-6" "01804" "VPS13D_000105" "g.12382781A>T" "" "" "" "VPS13D(NM_015378.2):c.7893A>T (p.(Arg2631Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990195" "0" "50" "1" "12387783" "12387783" "subst" "5.68611E-5" "01804" "VPS13D_000106" "g.12387783G>A" "" "" "" "VPS13D(NM_015378.2):c.8069G>A (p.(Arg2690Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990196" "0" "50" "1" "12416075" "12416075" "subst" "0.00021937" "02325" "VPS13D_000107" "g.12416075C>T" "" "" "" "VPS13D(NM_015378.4):c.9799C>T (p.R3267W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990197" "0" "50" "1" "12429702" "12429702" "subst" "0.000101554" "01804" "VPS13D_000108" "g.12429702C>T" "" "" "" "VPS13D(NM_015378.2):c.10753C>T (p.(Arg3585Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990198" "0" "50" "1" "12460316" "12460316" "subst" "4.06098E-6" "01804" "VPS13D_000109" "g.12460316G>A" "" "" "" "VPS13D(NM_015378.2):c.11713G>A (p.(Glu3905Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990199" "0" "50" "1" "12520436" "12520436" "subst" "0.000945019" "01804" "VPS13D_000057" "g.12520436C>T" "" "" "" "VPS13D(NM_015378.2):c.12647C>T (p.(Thr4216Ile)), VPS13D(NM_015378.4):c.12647C>T (p.T4216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001010123" "3" "90" "1" "12559294" "12573479" "delins" "0" "00006" "VPS13D_000110" "g.12559294_12573479delinsCAATG" "" "{PMID:Dekker 2023:36669495}" "" "del ex69-70, c.12794+1609_*3021+1380delinsCAATG" "skipping last two exons (69 and 70)" "Germline" "" "" "0" "" "" "g.12499240_12513425delinsCAATG" "" "pathogenic (recessive)" "" "0001031145" "0" "30" "1" "12336917" "12336917" "subst" "0.00269141" "01804" "VPS13D_000111" "g.12336917G>A" "" "" "" "VPS13D(NM_015378.4):c.3272G>A (p.(Cys1091Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031146" "0" "30" "1" "12387766" "12387766" "subst" "0.00129546" "01804" "VPS13D_000112" "g.12387766C>T" "" "" "" "VPS13D(NM_015378.4):c.8052C>T (p.(Ser2684=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049945" "0" "50" "1" "12418603" "12418603" "subst" "0" "01804" "VPS13D_000113" "g.12418603C>T" "" "" "" "VPS13D(NM_015378.4):c.10087C>T (p.(Arg3363*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061720" "1" "70" "1" "12328823" "12328823" "subst" "0" "00006" "VPS13D_000114" "g.12328823A>C" "" "{PMID:Zech 2020:33098801}" "" "" "ACMG PM2, PP1, PP2" "Germline" "" "" "0" "" "" "g.12268766A>C" "" "likely pathogenic (recessive)" "ACMG" "0001061805" "2" "70" "1" "12393345" "12393345" "subst" "2.03181E-5" "00006" "VPS13D_000115" "g.12393345C>T" "" "{PMID:Zech 2020:33098801}" "" "" "ACMG PM2, PP1, PP2, PP3" "Germline" "" "" "0" "" "" "g.12333288C>T" "" "likely pathogenic (recessive)" "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 VPS13D ## Count = 139 "{{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}}" "0000053075" "00022637" "30" "10355" "0" "10355" "0" "c.10355A>G" "r.(?)" "p.(Gln3452Arg)" "" "0000319738" "00022637" "30" "12289" "0" "12289" "0" "c.12289C>T" "r.(?)" "p.(Leu4097Phe)" "" "0000319739" "00022637" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(His621=)" "" "0000344707" "00022637" "50" "7714" "0" "7714" "0" "c.7714C>T" "r.(?)" "p.(Gln2572Ter)" "" "0000346066" "00022637" "50" "12445" "0" "12445" "0" "c.12445G>A" "r.(?)" "p.(Gly4149Ser)" "" "0000350718" "00022637" "70" "941" "3" "941" "3" "c.941+3A>G" "r.spl?" "p.?" "" "0000392067" "00022637" "70" "7334" "0" "7335" "0" "c.7334_7335del" "r.(?)" "p.(Val2445GlufsTer16)" "" "0000392068" "00022637" "70" "10562" "0" "10562" "0" "c.10562A>G" "r.(?)" "p.(Asn3521Ser)" "" "0000392069" "00022637" "70" "7334" "0" "7335" "0" "c.7334_7335del" "r.(?)" "p.(Val2445GlufsTer16)" "" "0000392070" "00022637" "70" "10562" "0" "10562" "0" "c.10562A>G" "r.(?)" "p.(Asn3521Ser)" "" "0000392071" "00022637" "70" "12683" "0" "12683" "0" "c.12683G>A" "r.(?)" "p.(Arg4228Gln)" "" "0000392072" "00022637" "70" "12683" "0" "12683" "0" "c.12683G>A" "r.(?)" "p.(Arg4228Gln)" "" "0000392073" "00022637" "70" "5853" "-94" "71481" "210" "c.5853-94_71481+210dup" "r.(?)" "p.?" "" "0000392074" "00022637" "70" "8699" "0" "8699" "0" "c.8699T>C" "r.(?)" "p.(Leu2900Ser)" "" "0000392075" "00022637" "70" "10694" "0" "10718" "0" "c.10694_10718dup" "r.(?)" "p.(Glu3573AspfsTer3)" "" "0000392076" "00022637" "70" "9758" "0" "9758" "0" "c.9758G>A" "r.(?)" "p.(Arg3253Gln)" "" "0000392077" "00022637" "70" "10694" "0" "10718" "0" "c.10694_10718dup" "r.(?)" "p.(Glu3573AspfsTer3)" "" "0000392078" "00022637" "70" "9758" "0" "9758" "0" "c.9758G>A" "r.(?)" "p.(Arg3253Gln)" "" "0000392079" "00022637" "70" "2593" "0" "2593" "0" "c.2593A>G" "r.(?)" "p.(Thr865Ala)" "" "0000392080" "00022637" "70" "3599" "0" "3599" "0" "c.3599G>A" "r.(?)" "p.(Gly1200Asp)" "" "0000392093" "00022637" "70" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Gly1190Asp)" "" "0000392094" "00022637" "70" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Gln1106Ter)" "" "0000394365" "00022637" "70" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Gly1190Asp)" "" "0000394366" "00022637" "70" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Gln1106Ter)" "" "0000394367" "00022637" "70" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Gly1190Asp)" "" "0000394368" "00022637" "70" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Gln1106Ter)" "" "0000394369" "00022637" "70" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Gly1190Asp)" "" "0000394370" "00022637" "70" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Gln1106Ter)" "" "0000394371" "00022637" "70" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Gly1190Asp)" "" "0000394372" "00022637" "70" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Gln1106Ter)" "" "0000394373" "00022637" "70" "12629" "0" "12629" "0" "c.12629C>T" "r.(?)" "p.(Ala4210Val)" "" "0000394374" "00022637" "70" "5409" "0" "5409" "0" "c.5409C>A" "r.(?)" "p.(Tyr1803Ter)" "" "0000394375" "00022637" "70" "12629" "0" "12629" "0" "c.12629C>T" "r.(?)" "p.(Ala4210Val)" "" "0000394376" "00022637" "70" "5409" "0" "5409" "0" "c.5409C>A" "r.(?)" "p.(Tyr1803Ter)" "" "0000398617" "00022637" "70" "1984" "0" "1984" "0" "c.1984C>T" "r.(?)" "p.(Gln662*)" "" "0000398618" "00022637" "70" "3919" "0" "3919" "0" "c.3919A>T" "r.(?)" "p.(Met1307Leu)" "" "0000400753" "00022637" "70" "12445" "0" "12445" "0" "c.12445G>A" "r.(?)" "p.(Gly4149Ser)" "" "0000400754" "00022637" "70" "7714" "0" "7714" "0" "c.7714C>T" "r.(?)" "p.(Gln2572Ter)" "" "0000400756" "00022637" "50" "941" "3" "941" "3" "c.941+3A>G" "r.(?)" "p.?" "" "0000400799" "00022637" "70" "8960" "0" "8961" "0" "c.8960_8961delTG" "r.(?)" "p.(Val2987Glyfs14)" "" "0000400802" "00022637" "70" "12320" "0" "12320" "0" "c.12320A>T" "r.(?)" "p.(Asn4107Ile)" "" "0000400803" "00022637" "50" "2237" "-1" "2237" "-1" "c.2237-1G>C" "r.(?)" "p.0?" "" "0000400804" "00022637" "70" "9998" "4" "9998" "4" "c.9998+4A>C" "r.(?)" "p.0?" "" "0000400805" "00022637" "90" "6829" "0" "6829" "0" "c.6829del" "r.(?)" "p.(Leu2277Ter)" "" "0000502828" "00022637" "30" "564" "8" "564" "8" "c.564+8T>A" "r.(=)" "p.(=)" "" "0000502829" "00022637" "30" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Leu343=)" "" "0000502830" "00022637" "30" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Thr448Ala)" "" "0000502831" "00022637" "50" "1624" "0" "1624" "0" "c.1624C>T" "r.(?)" "p.(Arg542Ter)" "" "0000502832" "00022637" "50" "2237" "-1" "2237" "-1" "c.2237-1G>C" "r.spl?" "p.?" "" "0000502834" "00022637" "50" "4022" "0" "4022" "0" "c.4022C>T" "r.(?)" "p.(Ser1341Leu)" "" "0000502836" "00022637" "50" "6745" "0" "6745" "0" "c.6745G>A" "r.(?)" "p.(Gly2249Ser)" "" "0000502837" "00022637" "30" "7243" "0" "7243" "0" "c.7243C>T" "r.(?)" "p.(His2415Tyr)" "" "0000502838" "00022637" "50" "7576" "0" "7576" "0" "c.7576C>T" "r.(?)" "p.(His2526Tyr)" "" "0000502839" "00022637" "50" "7688" "0" "7688" "0" "c.7688T>A" "r.(?)" "p.(Phe2563Tyr)" "" "0000502840" "00022637" "30" "8287" "7" "8287" "7" "c.8287+7A>G" "r.(=)" "p.(=)" "" "0000502841" "00022637" "30" "8334" "0" "8334" "0" "c.8334A>G" "r.(?)" "p.(Gln2778=)" "" "0000502842" "00022637" "30" "8363" "0" "8363" "0" "c.8363C>G" "r.(?)" "p.(Pro2788Arg)" "" "0000502843" "00022637" "50" "10169" "0" "10169" "0" "c.10169G>A" "r.(?)" "p.(Arg3390Gln)" "" "0000502844" "00022637" "30" "10308" "0" "10308" "0" "c.10308T>C" "r.(?)" "p.(Leu3436=)" "" "0000502845" "00022637" "30" "11882" "-8" "11882" "-8" "c.11882-8T>C" "r.(=)" "p.(=)" "" "0000502846" "00022637" "50" "12320" "0" "12320" "0" "c.12320A>T" "r.(?)" "p.(Asn4107Ile)" "" "0000502847" "00022637" "30" "12654" "0" "12654" "0" "c.12654C>T" "r.(?)" "p.(Ser4218=)" "" "0000604737" "00022637" "30" "1473" "0" "1473" "0" "c.1473G>A" "r.(?)" "p.(Lys491=)" "" "0000604738" "00022637" "30" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Ala618Val)" "" "0000604739" "00022637" "50" "4238" "0" "4238" "0" "c.4238G>A" "r.(?)" "p.(Gly1413Glu)" "" "0000604740" "00022637" "50" "4256" "0" "4256" "0" "c.4256G>T" "r.(?)" "p.(Ser1419Ile)" "" "0000604741" "00022637" "50" "5334" "0" "5334" "0" "c.5334T>A" "r.(?)" "p.(Ser1778Arg)" "" "0000604742" "00022637" "50" "5495" "0" "5495" "0" "c.5495T>G" "r.(?)" "p.(Phe1832Cys)" "" "0000604743" "00022637" "50" "5893" "0" "5893" "0" "c.5893A>T" "r.(?)" "p.(Ile1965Phe)" "" "0000604744" "00022637" "30" "9021" "7" "9021" "7" "c.9021+7G>A" "r.(=)" "p.(=)" "" "0000604745" "00022637" "30" "12647" "0" "12647" "0" "c.12647C>T" "r.(?)" "p.(Thr4216Ile)" "" "0000620375" "00022637" "50" "8678" "0" "8678" "0" "c.8678G>A" "r.(?)" "p.(Arg2893Lys)" "" "0000653628" "00022637" "50" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Asp76Gly)" "" "0000653629" "00022637" "50" "5527" "0" "5527" "0" "c.5527G>A" "r.(?)" "p.(Ala1843Thr)" "" "0000653630" "00022637" "50" "8626" "3" "8626" "3" "c.8626+3A>G" "r.spl?" "p.?" "" "0000653631" "00022637" "50" "12604" "0" "12604" "0" "c.12604G>A" "r.(?)" "p.(Asp4202Asn)" "" "0000653632" "00022637" "50" "12706" "0" "12706" "0" "c.12706C>T" "r.(?)" "p.(Pro4236Ser)" "" "0000675446" "00022637" "50" "5300" "0" "5300" "0" "c.5300C>T" "r.(?)" "p.(Thr1767Ile)" "" "0000675447" "00022637" "30" "7294" "0" "7294" "0" "c.7294C>T" "r.(?)" "p.(Arg2432Cys)" "" "0000675448" "00022637" "90" "9421" "0" "9421" "0" "c.9421C>T" "r.(?)" "p.(Arg3141Ter)" "" "0000687843" "00022637" "50" "1414" "5" "1414" "5" "c.1414+5G>A" "r.spl?" "p.?" "" "0000687844" "00022637" "50" "8275" "0" "8275" "0" "c.8275C>T" "r.(?)" "p.(Arg2759Cys)" "" "0000716753" "00022637" "30" "4108" "0" "4108" "0" "c.4108T>C" "r.(?)" "p.(Leu1370=)" "" "0000716754" "00022637" "30" "4623" "0" "4623" "0" "c.4623A>G" "r.(?)" "p.(Val1541=)" "" "0000716755" "00022637" "30" "5269" "0" "5269" "0" "c.5269G>A" "r.(?)" "p.(Asp1757Asn)" "" "0000716756" "00022637" "30" "5898" "0" "5898" "0" "c.5898C>T" "r.(?)" "p.(Arg1966=)" "" "0000716757" "00022637" "50" "6094" "0" "6094" "0" "c.6094G>A" "r.(?)" "p.(Val2032Ile)" "" "0000716758" "00022637" "50" "6814" "0" "6814" "0" "c.6814A>G" "r.(?)" "p.(Arg2272Gly)" "" "0000716759" "00022637" "30" "7294" "0" "7294" "0" "c.7294C>T" "r.(?)" "p.(Arg2432Cys)" "" "0000716760" "00022637" "30" "9081" "0" "9081" "0" "c.9081C>A" "r.(?)" "p.(Leu3027=)" "" "0000716761" "00022637" "50" "10900" "0" "10900" "0" "c.10900G>A" "r.(?)" "p.(Val3634Ile)" "" "0000716762" "00022637" "30" "12794" "6" "12794" "9" "c.12794+6_12794+9del" "r.(=)" "p.(=)" "" "0000798734" "00022637" "30" "2020" "0" "2020" "0" "c.2020C>A" "r.(?)" "p.(Arg674=)" "" "0000798735" "00022637" "30" "3819" "0" "3819" "0" "c.3819G>A" "r.(?)" "p.(Thr1273=)" "" "0000798736" "00022637" "50" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Arg1966Cys)" "" "0000798737" "00022637" "30" "6310" "0" "6310" "0" "c.6310G>A" "r.(?)" "p.(Gly2104Arg)" "" "0000798738" "00022637" "50" "7243" "0" "7243" "0" "c.7243C>T" "r.(?)" "p.(His2415Tyr)" "" "0000798739" "00022637" "50" "7408" "0" "7408" "0" "c.7408G>A" "r.(?)" "p.(Val2470Ile)" "" "0000798740" "00022637" "50" "8243" "0" "8243" "0" "c.8243C>T" "r.(?)" "p.(Ala2748Val)" "" "0000798741" "00022637" "30" "8288" "-4" "8288" "-4" "c.8288-4T>C" "r.spl?" "p.?" "" "0000798742" "00022637" "30" "9204" "0" "9204" "0" "c.9204C>T" "r.(?)" "p.(Ser3068=)" "" "0000798743" "00022637" "30" "10421" "0" "10421" "0" "c.10421A>T" "r.(?)" "p.(Lys3474Met)" "" "0000798744" "00022637" "50" "11459" "0" "11459" "0" "c.11459A>T" "r.(?)" "p.(Asn3820Ile)" "" "0000798745" "00022637" "50" "11459" "0" "11459" "0" "c.11459A>T" "r.(?)" "p.(Asn3820Ile)" "" "0000798746" "00022637" "50" "11881" "3" "11881" "3" "c.11881+3A>G" "r.spl?" "p.?" "" "0000821006" "00022637" "90" "-3090253" "0" "144089" "0" "c.-3090253_*130922del" "r.0?" "p.0?" "" "0000848273" "00022637" "50" "2203" "0" "2203" "0" "c.2203G>A" "r.(?)" "p.(Asp735Asn)" "" "0000848274" "00022637" "50" "3803" "0" "3803" "0" "c.3803A>C" "r.(?)" "p.(Glu1268Ala)" "" "0000848275" "00022637" "30" "6406" "0" "6406" "0" "c.6406A>G" "r.(?)" "p.(Thr2136Ala)" "" "0000856935" "00022637" "50" "11854" "0" "11854" "0" "c.11854T>A" "r.(?)" "p.(Phe3952Ile)" "" "0000882741" "00022637" "70" "9069" "4" "9069" "4" "c.9069+4A>G" "r.spl?" "p.?" "" "0000908874" "00022637" "70" "941" "3" "941" "3" "c.941+3A>G" "r.[841_941del,941_942ins[gug;941+4_942-1],=]" "p.[Gln282Profs*11,Asn314Lysfs*2,=]" "" "0000908932" "00022637" "90" "10270" "0" "10270" "0" "c.10270C>T" "r.[10142_10272del,10272delins[u;10272+1_10273-1]]" "p.[Ile3382Asnfs*24,Gln3424*]" "" "0000910763" "00022637" "30" "11370" "4" "11370" "4" "c.11370+4A>T" "r.spl?" "p.?" "" "0000910764" "00022637" "30" "13015" "0" "13015" "0" "c.13015C>G" "r.(?)" "p.(Pro4339Ala)" "" "0000922933" "00022637" "30" "4243" "0" "4243" "0" "c.4243G>A" "r.(?)" "p.(Asp1415Asn)" "" "0000927998" "00022637" "30" "3178" "0" "3178" "0" "c.3178G>A" "r.(?)" "p.(Asp1060Asn)" "" "0000946867" "00022637" "90" "2237" "-1" "2237" "-1" "c.2237-1G>A" "r.2237_4450del" "p.Asp746_Gln1483del" "18i" "0000946868" "00022637" "90" "941" "3" "941" "3" "c.941+3A>G" "r.[841_941del,=]" "p.[Gln282ProfsTer11,=]" "9i" "0000946869" "00022637" "90" "941" "3" "941" "3" "c.941+3A>G" "r.[(841_941del,=)]" "p.[(Gln282ProfsTer11,=)]" "9i" "0000946951" "00022637" "50" "1414" "5" "1414" "5" "c.1414+5G>A" "r.spl?" "p.?" "" "0000946952" "00022637" "50" "5634" "0" "5634" "0" "c.5634G>A" "r.(?)" "p.(=)" "" "0000973260" "00022637" "30" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(=)" "" "0000973261" "00022637" "50" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Thr742Met)" "" "0000990191" "00022637" "50" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345Cys)" "" "0000990192" "00022637" "30" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Thr448Ala)" "" "0000990193" "00022637" "50" "5269" "0" "5269" "0" "c.5269G>A" "r.(?)" "p.(Asp1757Asn)" "" "0000990194" "00022637" "30" "7893" "0" "7893" "0" "c.7893A>T" "r.(?)" "p.(Arg2631Ser)" "" "0000990195" "00022637" "50" "8069" "0" "8069" "0" "c.8069G>A" "r.(?)" "p.(Arg2690Gln)" "" "0000990196" "00022637" "50" "9799" "0" "9799" "0" "c.9799C>T" "r.(?)" "p.(Arg3267Trp)" "" "0000990197" "00022637" "50" "10753" "0" "10753" "0" "c.10753C>T" "r.(?)" "p.(Arg3585Trp)" "" "0000990198" "00022637" "50" "11713" "0" "11713" "0" "c.11713G>A" "r.(?)" "p.(Glu3905Lys)" "" "0000990199" "00022637" "50" "12647" "0" "12647" "0" "c.12647C>T" "r.(?)" "p.(Thr4216Ile)" "" "0001010123" "00022637" "90" "" "0" "" "0" "c.12794+1609_*3021{0}" "r.[12795_*3021delins[NC_000001.10:g.12573821_?],12795_*3021delins[NC_000001.10:g.12574795_?],12795_*3021delins[NC_000001.10:g.12587487_?]]" "p.[Phe4266ArgfsTer29,Phe4266CysfsTer34,Phe4265LeufsTer18]" "" "0001031145" "00022637" "30" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Cys1091Tyr)" "" "0001031146" "00022637" "30" "8052" "0" "8052" "0" "c.8052C>T" "r.(?)" "p.(=)" "" "0001049945" "00022637" "50" "10087" "0" "10087" "0" "c.10087C>T" "r.(?)" "p.(Arg3363*)" "" "0001061720" "00022637" "70" "1862" "0" "1862" "0" "c.1862A>C" "r.(?)" "p.(His621Pro)" "" "0001061805" "00022637" "70" "8350" "0" "8350" "0" "c.8350C>T" "r.(?)" "p.(Arg2784Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000029692" "0000053075" "0000171723" "0000392067" "0000171723" "0000392068" "0000171724" "0000392069" "0000171724" "0000392070" "0000171725" "0000392071" "0000171725" "0000392072" "0000171726" "0000392073" "0000171726" "0000392074" "0000171727" "0000392075" "0000171727" "0000392076" "0000171728" "0000392077" "0000171728" "0000392078" "0000171729" "0000392079" "0000171729" "0000392080" "0000171739" "0000392093" "0000171739" "0000392094" "0000174593" "0000394365" "0000174593" "0000394366" "0000174594" "0000394367" "0000174594" "0000394368" "0000174595" "0000394369" "0000174595" "0000394370" "0000174596" "0000394371" "0000174596" "0000394372" "0000174597" "0000394373" "0000174597" "0000394374" "0000174598" "0000394375" "0000174598" "0000394376" "0000175751" "0000398617" "0000175751" "0000398618" "0000177881" "0000400753" "0000177881" "0000400754" "0000177882" "0000400756" "0000177882" "0000400799" "0000177922" "0000400802" "0000177922" "0000400803" "0000177923" "0000400804" "0000177923" "0000400805" "0000391270" "0000821006" "0000429401" "0000908874" "0000429401" "0000908932" "0000444931" "0000946867" "0000444931" "0000946868" "0000444932" "0000946869" "0000456440" "0001010123" "0000472976" "0001061720" "0000472976" "0001061805"