### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM63B) # 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}}" "TMEM63B" "transmembrane protein 63B" "6" "p21.1" "unknown" "NC_000006.11" "UD_136064621848" "" "https://www.LOVD.nl/TMEM63B" "" "1" "17735" "55362" "619952" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TMEM63B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-07 09:53:53" "00000" "2025-11-01 13:22:20" ## 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}}" "00021307" "TMEM63B" "transmembrane protein 63B" "001" "NM_018426.1" "" "NP_060896.1" "" "" "" "-64" "3135" "2499" "44095376" "44123256" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07185" "DEE118" "encephalopathy, developmental and epileptic, type 118" "AD" "621250" "" "" "" "00006" "2025-09-30 18:05:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TMEM63B" "06906" "TMEM63B" "07185" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00435639" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "9y" "0" "" "" "" "Pat1" "00435640" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00435641" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00435642" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "12y6m" "0" "" "" "" "Pat4" "00435643" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00435644" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00435645" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00435646" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00435647" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00435648" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00435649" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00435650" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00435651" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00435652" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00435653" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat15" "00435654" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat16" "00435655" "" "" "" "1" "" "00006" "{PMID:Vetro 2023:37421948}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00435639" "06906" "00435640" "06906" "00435641" "06906" "00435642" "06906" "00435643" "06906" "00435644" "06906" "00435645" "06906" "00435646" "06906" "00435647" "06906" "00435648" "06906" "00435649" "06906" "00435650" "06906" "00435651" "06906" "00435652" "06906" "00435653" "06906" "00435654" "06906" "00435655" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06906, 07185 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000325823" "06906" "00435639" "00006" "Isolated (sporadic)" "8y" "see paper, ..., 9y-deceased (pneumonia); 6m-mild anaemia, mildly increased platelets count, stable on yearly full blood count; osmotic fragility test; negative; 6m-/infantile spasms; spasms, myoclonic seizures, focal seizures with impaired awareness (daily); EEG 6m–8y slow background, bilateral independent discharges, epileptic spasms and myoclonic seizures; MRI brain 5m, 4y thin corpus callosum, colpocephaly, abnormal myelination, dysmorphic lateral ventricles, enlarged extracerebral spaces, progressive mild cerebellar atrophy, and watershed areas white matter abnormality; threatened preterm labor at 35w, global profound developmental delay, generalized hypotonia, plagiocephaly, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 17m), dyskinesias; mild anemia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325824" "06906" "00435640" "00006" "Isolated (sporadic)" "10y" "see paper; ..., 1d-focal seizures; bilateral independent focal motor seizures with impaired awareness, focal to bilateral tonic-clonic (weekly); EEG 7−10y slow background, multifocal discharges, focal seizures recorded; MRI brain 6y, 10y thin corpus callosum, multifocal white matter abnormalities, ventricular asymmetry, progressive cerebellar atrophy; global profound developmental delay, ataxic gait, lower limb hypertonia, nystagmus; mild abnormalities of red blood cells, mean corpuscular hemoglobin, mean corpuscular volume" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325825" "06906" "00435641" "00006" "Isolated (sporadic)" "15y" "see paper; ..., 2m-focal motor seizures with asymmetric posturing; focal seizures with impaired awareness and asymmetric posturing, focal to bilateral tonic-clonic (weekly); EEG 15y slow background, focal epileptiform discharges; MRI brain 4y thin corpus callosum, posterior predominant multifocal white matter abnormalities, dysmorphic asymmetric lateral ventricles, enlarged cortical sulci; global profound developmental delay, spastic asymmetric quadriparesis, severe cortical visual impairment" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325826" "06906" "00435642" "00006" "Isolated (sporadic)" "12y" "see paper, ..., 12y6m-deceased (pneumonia); 4m-focal seizures; focal seizures with impaired awareness; 9 months on: spasms and focal to bilateral tonic-clonic (daily); 14m-single episode of status epilepticus; EEG 8m–10y slow background, bilateral independent or multifocal discharges, epileptic spasms recorded; MRI brain 5m, 7y thin corpus callosum, multifocal white matter abnormalities, dysmorphic enlarged lateral ventricles, mild cortical and cerebellar atrophy, progressive trabecular bone thickening; global profound developmental delay, wheelchair bound, cortical visual impairment, by 10y knee fixed flexion contractures, dysphagia (percutaneous endoscopic gastrostomy 5y); severe macrocytic anemia transfusion dependent" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325827" "06906" "00435643" "00006" "Isolated (sporadic)" "8y" "see paper; ..., 1d-jaundice; laryngomalacia (1y-supraglottoplasty) ; 2d-apnoeic seizures; 4m-epileptic spasms, 7y-focal hyperkinetic motor seizures with impaired awareness (seizure-free); EEG 7y slow background, bilateral independent or multifocal discharges, focal seizures recorded; MRI brain 1 week, 7m, 2y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive posteriorly predominant white matter abnormality, and cerebellar atrophy; global profound developmental delay, severe cortical visual impairment, nystagmus, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 2y); jaundice at birth" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325828" "06906" "00435644" "00006" "Isolated (sporadic)" "1y11m" "see paper; ..., 10d-apnoeic seizures; focal seizures onset with impaired awareness, focal to bilateral tonic-clonic, epileptic spasms (daily); EEG 2m–23m slow background, multifocal or generalized discharges with burst suppression, focal seizures recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, diffusely abnormal myelination; global profound developmental delay, quadriparesis with generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 16m); macrocytic anemia, transfusion dependent" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325829" "06906" "00435645" "00006" "Isolated (sporadic)" "1y8m" "see paper; ..., 12m scleralicterus; 1d-apnoeic seizures; 14d-stiffening episodes, 9m-epileptic spasms (seizure-free); EEG birth–20m normal background, then hypsarrhythmia, slow background, focal discharges; MRI brain 1 week, 5m, 11m thin corpus callosum, widespread white matter abnormalities, enlarged dysmorphic lateral ventricles, mild progressive cerebellar atrophy; global profound developmental delay, asymmetric quadriparesis, generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (no percutaneous endoscopic gastrostomy yet); scleralicterus" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325830" "06906" "00435646" "00006" "Isolated (sporadic)" "17y" "see paper; ..., 2y-severe anaemia, occasional transfusions, episode of haemolysis triggered by infection8y-BM showed myelodysplastic syndrome with aplastic anaemia, haematopoiesis, chronic haemolysi; 4m-infantile spasms; 1y-generalized tonic seizures, focal motor with impaired awareness (daily); EEG 4m–12y hypsarrhythmia, then slow background, multifocal epileptiform discharges; MRI brain 4m, 2y, 10y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive widespread white matter abnormality, ventricular dilatation, cerebellar atrophy, and trabecular bone thickening; global profound developmental delay, quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe anemia requiring occasional transfusions" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325831" "06906" "00435647" "00006" "Isolated (sporadic)" "15y" "see paper; ..., 2y-mild stable anaemia (no previous measurement available); retinal dystrophy; 2y6m-focal seizures; 3y-epileptic spasms in small clusters (weekly); EEG slow background, no epileptiform discharges in 4 EEG recordings; MRI brain 4m thin corpus callosum with absent splenium and delayed myelination, 6y 7m increased signal of white matter in watershed areas, generalized decrease of white matter volume; global profound developmental delay, wheelchair bound, quadriparesis, pseudobulbar signs, jerky involuntary movements, stereotypical movements and behavior, dysphagia (percutaneous endoscopic gastrostomy 3y), cortical visual impairment, nystagmus; mild anemia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325832" "06906" "00435648" "00006" "Isolated (sporadic)" "3y" "see paper; ..., 14d-focal seizures; bilateral independent focal seizures, epileptic spasms (daily); EEG 2–9m slow background, hypsarrhythmia, multifocal discharges, focal seizures and epileptic spasms recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, abnormal myelination more pronounced posteriorly, Rathke cleft cyst; global profound developmental delay, quadriparesis, generalized hypotonia, cortical blindness with roving eye movements, dysphagia; mild macrocytic anemia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325833" "06906" "00435649" "00006" "Isolated (sporadic)" "7y" "see paper; ..., 2y-focal seizures; occasional focal seizures with impaired awareness during fever; EEG 4–6y normal background, bilateral independent discharges; MRI brain 6y multifocal, posteriorly predominant white matter abnormality; global severe developmental delay, motor impairment, generalized hypotonia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325834" "06906" "00435650" "00006" "Isolated (sporadic)" "1y11m" "see paper; ..., 7d-myoclonic jerks; 14m-intractable focal seizures; EEG 14m: normal background, generalized and focal discharges; MRI brain 14m mild prominence of ventricular system and extra-axial CSF spaces; global developmental delay, dysphagia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325835" "06906" "00435651" "00006" "Isolated (sporadic)" "16y" "see paper; ...,f rom birth severe haemolytic anaemia with macrocytosis, thrombocytopenia, hepatosplenomegaly, transfusion dependent, hyperbilirubinemia, left vesicoureteral reflux (13y-surgical correction), chronic urinary retention; 6m-infantile spasms; tonic seizures daily; generalized tonic-clonic seizures (monthly); EEG 4m–16y hypsarrhythmia, then slow background, bilateral independent or multifocal discharges, epileptic spasms and tonic seizures recorded; MRI brain 7m, 2y, 4y, 8y thin corpus callosum, multifocal white matter abnormalities, asymmetric dysmorphic lateral ventricles, progressive trabecular bone thickening; global profound developmental delay, generalized hypotonia, microcephaly, visual impairment, nystagmus, squint, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe hemolytic anemia, transfusion dependent" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325836" "06906" "00435652" "00006" "Isolated (sporadic)" "5y" "see paper; ..., 10m-focal seizures; generalized tonic-clonic seizures occasional during fever; EEG 2y slow background, focal discharges; MRI brain 1 year 7m thin corpus callosum, widespread white matter abnormality, especially periventricular, asymmetric dysmorphic lateral ventricles, mild cerebellar atrophy; global profound developmental delay, spastic quadriparesis, axial hypotonia, upper limb dystonia, visual impairment, dysphagia (percutaneous endoscopic gastrostomy 3y)" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325837" "06906" "00435653" "00006" "Isolated (sporadic)" "30y" "see paper; ..., 3y-focal seizures; focal seizures with impaired awareness, generalized tonic-clonic seizures (yearly; EEG 15y slow background, focal discharges, focal seizures recorded; MRI brain 15y, 21y, 24y, 27y, 28y thin corpus callosum, widespread white matter abnormality, especially periventricular/posterior, progressive cerebellar atrophy, and trabecular bone thickening; global moderate developmental delay, cerebellar ataxia, tremor, dysarthria, limited mobility, bipolar disorder; mild hyperbilirubinemia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325838" "06906" "00435654" "00006" "Isolated (sporadic)" "25y" "see paper; ..., 1d-mild jaundice, macrocytic anaemia, out-turned feet; 11m-focal seizures; focal seizures with posturing and impaired awareness, recurrent status epilepticus (yearly); EEG 17m–22y background mildly abnormal, diffuse beta activity, multifocal discharges, focal seizures recorded; MRI brain 1 year, 2y, 10y thin corpus callosum, multifocal white matter abnormality; global moderate developmental delay, spastic quadriparesis, autism spectrum disorder; macrocytic anemia" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000325839" "06906" "00435655" "00006" "Isolated (sporadic)" "15y" "see paper; ..., 11m-focal seizures; focal seizures with eye deviation; jerking, generalized tonic-clonic seizures, recurrent status epilepticus (seizure-free) at last FU; EEG 5–17m normal background, focal discharges; MRI brain 1 year, 12y thin corpus callosum, abnormal myelination, colpocephaly, dysmorphic lateral ventricles, increased white matter signal with posterior/periventricular predominance; global, severe developmental delay, toe walking, autism spectrum disorder" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437120" "00435639" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437121" "00435640" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437122" "00435641" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437123" "00435642" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437124" "00435643" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437125" "00435644" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437126" "00435645" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437127" "00435646" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437128" "00435647" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437129" "00435648" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437130" "00435649" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437131" "00435650" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437132" "00435651" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437133" "00435652" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437134" "00435653" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437135" "00435654" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437136" "00435655" "1" "00006" "00006" "2023-08-07 11:56:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 31 "{{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}}" "0000528955" "0" "50" "6" "44108783" "44108783" "subst" "0" "01943" "TMEM63B_000001" "g.44108783A>G" "" "" "" "TMEM63B(NM_001318792.1):c.730A>G (p.I244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44141046A>G" "" "VUS" "" "0000610371" "0" "50" "6" "44121559" "44121559" "subst" "0" "01804" "TMEM63B_000002" "g.44121559T>C" "" "" "" "TMEM63B(NM_018426.1):c.2089T>C (p.(Phe697Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44153822T>C" "" "VUS" "" "0000931896" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931897" "0" "90" "6" "44116567" "44116567" "subst" "0" "00006" "TMEM63B_000003" "g.44116567G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44148830G>A" "" "pathogenic (dominant)" "" "0000931898" "0" "90" "6" "44117624" "44117624" "subst" "0" "00006" "TMEM63B_000008" "g.44117624C>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44149887C>A" "" "pathogenic (dominant)" "" "0000931899" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931900" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931901" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931902" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931903" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931904" "0" "90" "6" "44102451" "44102451" "subst" "0" "00006" "TMEM63B_000004" "g.44102451G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44134714G>A" "" "pathogenic (dominant)" "" "0000931905" "0" "90" "6" "44116646" "44116646" "subst" "0" "00006" "TMEM63B_000005" "g.44116646C>G" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44148909C>G" "" "pathogenic (dominant)" "" "0000931906" "0" "90" "6" "44116656" "44116656" "subst" "0" "00006" "TMEM63B_000006" "g.44116656G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44148919G>A" "" "pathogenic (dominant)" "" "0000931907" "0" "90" "6" "44116656" "44116656" "subst" "0" "00006" "TMEM63B_000006" "g.44116656G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44148919G>A" "" "pathogenic (dominant)" "" "0000931908" "0" "90" "6" "44117606" "44117608" "del" "0" "00006" "TMEM63B_000007" "g.44117606_44117608del" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44149869_44149871del" "" "pathogenic (dominant)" "" "0000931909" "0" "90" "6" "44119647" "44119647" "subst" "0" "00006" "TMEM63B_000009" "g.44119647G>A" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44151910G>A" "" "pathogenic (dominant)" "" "0000931910" "0" "90" "6" "44119647" "44119647" "subst" "0" "00006" "TMEM63B_000010" "g.44119647G>T" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44151910G>T" "" "pathogenic (dominant)" "" "0000931911" "0" "90" "6" "44121449" "44121449" "subst" "0" "00006" "TMEM63B_000011" "g.44121449G>C" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44153712G>C" "" "pathogenic (dominant)" "" "0000931912" "0" "90" "6" "44121559" "44121559" "subst" "0" "00006" "TMEM63B_000002" "g.44121559T>C" "" "{PMID:Vetro 2023:37421948}" "" "" "" "De novo" "" "" "0" "" "" "g.44153822T>C" "" "pathogenic (dominant)" "" "0000948712" "0" "90" "6" "44119647" "44119647" "subst" "0" "02327" "TMEM63B_000009" "g.44119647G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977265" "0" "70" "6" "44116359" "44116359" "subst" "0" "02327" "MRPL14_000001" "g.44116359T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995786" "0" "30" "6" "44102755" "44102755" "subst" "2.43784E-5" "01804" "MRPL14_000002" "g.44102755C>T" "" "" "" "TMEM63B(NM_018426.1):c.161C>T (p.(Ala54Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995787" "0" "30" "6" "44103099" "44103099" "subst" "0" "01804" "MRPL14_000003" "g.44103099G>A" "" "" "" "TMEM63B(NM_018426.1):c.274G>A (p.(Glu92Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995788" "0" "50" "6" "44107206" "44107206" "subst" "2.84379E-5" "01804" "MRPL14_000004" "g.44107206A>G" "" "" "" "TMEM63B(NM_018426.1):c.410A>G (p.(Asp137Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995789" "0" "70" "6" "44117962" "44117962" "subst" "0" "02325" "MRPL14_000005" "g.44117962T>C" "" "" "" "TMEM63B(NM_018426.3):c.1522T>C (p.S508P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995790" "0" "50" "6" "44119750" "44119750" "subst" "0" "01804" "MRPL14_000006" "g.44119750G>T" "" "" "" "TMEM63B(NM_018426.1):c.1836+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995791" "0" "50" "6" "44121523" "44121523" "subst" "0" "01804" "MRPL14_000007" "g.44121523G>A" "" "" "" "TMEM63B(NM_018426.1):c.2053G>A (p.(Val685Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035803" "0" "30" "6" "44103069" "44103069" "subst" "0.000160079" "01804" "MRPL14_000008" "g.44103069C>T" "" "" "" "TMEM63B(NM_018426.3):c.244C>T (p.(Arg82Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035804" "0" "30" "6" "44107200" "44107206" "delins" "0" "01804" "MRPL14_000009" "g.44107200_44107206delinsACGGGG" "" "" "" "TMEM63B(NM_018426.3):c.408-4_410delinsACGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035805" "0" "30" "6" "44121558" "44121558" "subst" "0.000288792" "01804" "CAPN11_000004" "g.44121558C>T" "" "" "" "TMEM63B(NM_018426.3):c.2088C>T (p.(Leu696=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052371" "0" "50" "6" "44108793" "44108793" "subst" "0" "01804" "MRPL14_000010" "g.44108793T>G" "" "" "" "TMEM63B(NM_018426.3):c.740T>G (p.(Ile247Ser))" "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 TMEM63B ## Count = 31 "{{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}}" "0000528955" "00021307" "50" "730" "0" "730" "0" "c.730A>G" "r.(?)" "p.(Ile244Val)" "" "0000610371" "00021307" "50" "2089" "0" "2089" "0" "c.2089T>C" "r.(?)" "p.(Phe697Leu)" "" "0000931896" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931897" "00021307" "90" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" "" "0000931898" "00021307" "90" "1442" "0" "1442" "0" "c.1442C>A" "r.(?)" "p.(Thr481Asn)" "" "0000931899" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931900" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931901" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931902" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931903" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931904" "00021307" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Val44Met)" "" "0000931905" "00021307" "90" "1377" "0" "1377" "0" "c.1377C>G" "r.(?)" "p.(Asp459Glu)" "" "0000931906" "00021307" "90" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Val463Ile)" "" "0000931907" "00021307" "90" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Val463Ile)" "" "0000931908" "00021307" "90" "1424" "0" "1426" "0" "c.1424_1426del" "r.(?)" "p.(Ile475del)" "" "0000931909" "00021307" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Gly580Ser)" "" "0000931910" "00021307" "90" "1738" "0" "1738" "0" "c.1738G>T" "r.(?)" "p.(Gly580Cys)" "" "0000931911" "00021307" "90" "1979" "0" "1979" "0" "c.1979G>C" "r.(?)" "p.(Arg660Thr)" "" "0000931912" "00021307" "90" "2089" "0" "2089" "0" "c.2089T>C" "r.(?)" "p.(Phe697Leu)" "" "0000948712" "00021307" "90" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Gly580Ser)" "" "0000977265" "00021307" "70" "1231" "0" "1231" "0" "c.1231T>C" "r.(?)" "p.(Tyr411His)" "" "0000995786" "00021307" "30" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ala54Val)" "" "0000995787" "00021307" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Glu92Lys)" "" "0000995788" "00021307" "50" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Asp137Gly)" "" "0000995789" "00021307" "70" "1522" "0" "1522" "0" "c.1522T>C" "r.(?)" "p.(Ser508Pro)" "" "0000995790" "00021307" "50" "1836" "5" "1836" "5" "c.1836+5G>T" "r.spl?" "p.?" "" "0000995791" "00021307" "50" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Val685Met)" "" "0001035803" "00021307" "30" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0001035804" "00021307" "30" "408" "-4" "410" "0" "c.408-4_410delinsACGGGG" "r.spl?" "p.?" "" "0001035805" "00021307" "30" "2088" "0" "2088" "0" "c.2088C>T" "r.(?)" "p.(=)" "" "0001052371" "00021307" "50" "740" "0" "740" "0" "c.740T>G" "r.(?)" "p.(Ile247Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000437120" "0000931896" "0000437121" "0000931897" "0000437122" "0000931898" "0000437123" "0000931899" "0000437124" "0000931900" "0000437125" "0000931901" "0000437126" "0000931902" "0000437127" "0000931903" "0000437128" "0000931904" "0000437129" "0000931905" "0000437130" "0000931906" "0000437131" "0000931907" "0000437132" "0000931908" "0000437133" "0000931909" "0000437134" "0000931910" "0000437135" "0000931911" "0000437136" "0000931912"