### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLN5) # 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}}" "CLN5" "ceroid-lipofuscinosis, neuronal 5" "13" "q21.2-q32" "unknown" "NG_009064.1" "UD_132084406389" "{PMID:Savukoski 1998:9662406}, {PMID:Kousi 2012:21990111}" "https://www.LOVD.nl/CLN5" "" "1" "2076" "1203" "608102" "1" "1" "1" "1" "An NCL gene variant database.\r\nEstablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013: 34: 1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/CLN5_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00008" "2010-04-29 00:00:00" "00006" "2019-07-21 20:25:34" "00006" "2024-10-24 08:53:06" ## 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}}" "00001721" "CLN5" "ceroid-lipofuscinosis, neuronal 5" "001" "NM_006493.2" "" "NP_006484.1" "" "" "" "-28" "2772" "1224" "77566059" "77576652" "00008" "2012-10-11 12:07:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00060" "CLN5" "lipofuscinosis, ceroid, neuronal, type 5 (CLN-5)" "AR" "256731" "" "" "" "00008" "2012-10-11 12:06:07" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CLN5" "00060" "CLN5" "05258" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00290959" "" "" "" "101" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290960" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290961" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290962" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295399" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304415" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307889" "" "" "" "1" "" "03765" "" "" "F" "yes" "Egypt" "" "" "" "" "" "?" "00307890" "" "" "" "1" "" "03765" "" "" "M" "yes" "Egypt" "" "" "" "" "" "?" "00307892" "" "" "" "1" "" "03765" "" "" "M" "?" "Saudi Arabia" "" "" "" "" "" "?" "00307893" "" "" "" "1" "" "03765" "" "" "M" "?" "Algeria" "" "" "" "" "" "?" "00307897" "" "" "" "1" "" "03765" "" "" "M" "?" "Germany" "" "" "" "" "" "?" "00307898" "" "" "" "1" "" "03765" "" "" "F" "yes" "Iran" "" "" "" "" "" "?" "00307899" "" "" "" "1" "" "03765" "" "" "F" "yes" "Egypt" "" "" "" "" "" "?" "00374267" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4390" "00374268" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3224" "00384511" "" "" "" "1" "" "00000" "{PMID:Ren 2019:31105743}" "AR" "F" "no" "China" "" "0" "" "" "" "2" "00384540" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "?" "" "" "0" "" "" "" "20" "00415322" "" "" "" "1" "" "00000" "{PMID:Craiu 2015:25439737}" "" "F" "" "Romania" "" "0" "" "" "white" "?" "00427967" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A001" "00435494" "" "" "" "2" "" "00006" "{PMID:Rots 2023:37196654}" "family, affected adoptedhalf-brother/half-brother, mother with psychiatric problems not available for testing" "F" "" "" "" "0" "" "" "" "Pat11" "00447689" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SCHI-87" "00456223" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat1" "00456258" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat36" "00456263" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat41" "00456268" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat46" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00290959" "00198" "00290960" "00198" "00290961" "00198" "00290962" "00198" "00295399" "00198" "00304415" "00198" "00307889" "00060" "00307890" "00060" "00307892" "00060" "00307893" "00060" "00307897" "00060" "00307898" "00060" "00307899" "00060" "00374267" "00198" "00374268" "00198" "00384511" "04214" "00384540" "05258" "00415322" "04214" "00427967" "00198" "00435494" "05611" "00447689" "00198" "00456223" "00198" "00456258" "00198" "00456263" "00198" "00456268" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00060, 00198, 04214, 05258, 05611 ## Count = 19 "{{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}}" "0000233312" "00060" "00307889" "03765" "Familial, autosomal recessive" "" "Ataxia, Absence seizure, Frequent falls, Developmental regression, Abnormality of the cerebral white matter" "05y" "06y10m" "" "" "" "" "" "" "" "" "" "0000233313" "00060" "00307890" "03765" "Familial, autosomal recessive" "" "Intellectual disability, Ataxia, Gait ataxia, Neurological speech impairment, Abnormality of the cerebral white matter, Abnormality of the periventricular white matter, Abnormality of the cerebral cortex, Abnormal myelination, Abnormality of movement" "" "06y05m" "" "" "" "" "" "" "" "" "" "0000233315" "00060" "00307892" "03765" "Familial, autosomal recessive" "" "Visual impairment, Seizures, Ataxia, Muscular hypotonia, Global developmental delay, Neurodegeneration" "" "11y" "" "" "" "" "" "" "" "" "" "0000233316" "00060" "00307893" "03765" "Familial, autosomal recessive" "" "" "?" "?" "" "" "" "" "" "" "" "" "" "0000233320" "00060" "00307897" "03765" "Familial, autosomal recessive" "" "" "" "09y08m" "" "" "" "" "" "" "" "" "" "0000233321" "00060" "00307898" "03765" "Familial, autosomal recessive" "" "Blindness, Intellectual disability, Ataxia, Spasticity, Gait disturbance, Skeletal muscle atrophy, Demyelinating peripheral neuropathy" "06y" "09y03m" "" "" "" "" "" "" "" "" "" "0000233322" "00060" "00307899" "03765" "Familial, autosomal recessive" "" "Abnormal electroretinogram, Intellectual disability, Seizures, Mental deterioration, Cerebellar atrophy, Hypertonia, Gait disturbance, Myoclonus, Generalized tonic-clonic seizures, Frequent falls, Abnormal muscle tone, Cognitive impairment" "" "06y" "" "" "" "" "" "" "" "" "" "0000269477" "00198" "00374267" "00006" "Familial, autosomal recessive" "" "Myoclonic jerks, progressive visual blurring and vision loss" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269478" "00198" "00374268" "00006" "Familial, autosomal recessive" "" "Abnormal gait, generalized seizures, ataxia, hypertonia, neuronal regression, progressive vision loss and retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000278296" "04214" "00384511" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Late-infantile neuronal ceroid lipofuscinosis" "" "" "0000278324" "05258" "00384540" "00000" "Familial, autosomal recessive" "16y" "" "3y6m" "" "Balance problems" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 5" "lipofuscinosis, ceroid, neuronal" "" "0000307119" "04214" "00415322" "00000" "Familial, autosomal recessive" "7y" "under average developmental milestones achievement, but within normal range until age 12m (head lift at 5m, sitting at 7m to standing around 12m, independent walking at 16m, voluntary grasping normally developed until age of 12m, syllables at age 5m, 3 meaningful words at age 12m); subsequently gradual loss of cognitive and motor abilities, difficulties in maintaining standing position associating frequent falls; acquirement of repetitive stereotypical non-purposeful hands movement in the midline (clapping, keeping them together and frequently introducing them in her mouth), starting around 18m; lost ambulation at age 3.5 years; clinical and neurological examination at admission 5y: head circumference: 47 cm (minus 2 standard deviations), cognitive development: ~18m, with speech impairment (8-10 meaningful words, 2 words sentences, mimicking telephone conversation); preserved vision (visual tracking of moving objects possible), motor development of 5m (head lift possible, rolling from prone to supine), axial hypotonia and limbs hypertonia with brisk deep tendon reflexes, mild truncal and limbs ataxia, combined with extrapyramidal symptoms (wide opening of the mouth), frequent episodes of spontaneous hyperventilation lasting 5-30 s; voluntary grasping present with midline stereotypical movements; magnetic resonance imaging, 5y: unnspecific abnormalities (mild global atrophy) - suspicion of Rett syndrome, but negative for MECP2 mutations. 6y: one event resembling a tonic-clonic nocturnal seizure and focal clonic seizures coming from the right hemisphere; neurological aspect was different: blindness, complete loss of purposeful hands use, no stereotypical hands movements, no spontaneous hyperventilation, mixed neurological signs: severe truncal and limbs ataxia, important contractures of soleus muscles with fixed equine position of both legs, brisk reflexes, intermittent opening of the mouth, and paroxysmal dystonic postures with extended upper and lower limbs; electroencephalogram: slow background with intermittent rhythmic delta activity runs of 2-12 s of 2.5-3.5 Hz bilateral rhythm of 70-200 mV amplitude separated by low-voltage 5-10 mV rhythms; intermittent light stimulation - no change; new MRI: more severe atrophic changes; ophthalmologic examination: pale papilla, significantly narrowed arteries and pigmentary areas in the peripheral retina; visual evoked potentials: severely prolonged conduction latencies; nerve conduction velocities: normal - absence in this moment of Rett symptoms, along with MRI abnormalities, were highly suggestive for neuronal ceroid-lipofuscinosis; bulbar conjunctive biopsy: abnormal curvilinear and fingerprint lysosomal deposits, consistent with the NCL diagnosis; no granular lipopigment (as described in CLN1 and CLN10)" "" "" "" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "Rett syndrome" "" "0000318913" "00198" "00427967" "00006" "Familial, autosomal recessive" "31y" "" "" "" "" "" "" "" "" "" "Ceroid lipofuscinosis, neuronal 5" "" "" "0000325681" "05611" "00435494" "00006" "Unknown" "19y" "see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; abnormal movements; no spasticity; ataxia; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; vestibular aqueduct dilation; no congenital heart disease; carotid sinus hypermobility; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; recurrent skin infections when younger" "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000336888" "00198" "00447689" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinoschisis" "" "0000344742" "00198" "00456223" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "2y" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000344777" "00198" "00456258" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000344782" "00198" "00456263" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000344787" "00198" "00456268" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292127" "00290959" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292128" "00290960" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292129" "00290961" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292130" "00290962" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296567" "00295399" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305544" "00304415" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309030" "00307889" "1" "03765" "03765" "2020-08-20 08:32:19" "" "" "SEQ-NG" "DNA" "EDTA" "WES" "0000309031" "00307890" "1" "03765" "03765" "2020-08-20 08:38:32" "" "" "SEQ-NG" "DNA" "DBS" "WES" "0000309033" "00307892" "1" "03765" "03765" "2020-08-20 09:20:28" "" "" "SEQ" "DNA" "DBS" "" "0000309038" "00307893" "1" "03765" "03765" "2020-08-20 15:45:33" "" "" "SEQ" "DNA" "" "" "0000309039" "00307897" "1" "03765" "03765" "2020-08-20 15:57:16" "" "" "SEQ" "DNA" "EDTA" "" "0000309040" "00307898" "1" "03765" "03765" "2020-08-20 16:11:43" "" "" "SEQ-NG" "DNA" "DNA" "WES" "0000309041" "00307899" "1" "03765" "03765" "2020-08-20 16:16:30" "" "" "SEQ-NG" "DNA" "DBS" "WES" "0000375461" "00374267" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375462" "00374268" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000385736" "00384511" "1" "00000" "03840" "2021-09-29 13:26:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000385765" "00384540" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000416603" "00415322" "1" "00000" "03840" "2022-08-12 10:13:25" "03840" "2022-08-12 10:16:20" "SEQ" "DNA" "blood" "CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1" "0000429380" "00427967" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000436973" "00435494" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449266" "00447689" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000457840" "00456223" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457875" "00456258" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457880" "00456263" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457885" "00456268" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000309030" "CLN5" "0000309031" "CLN5" "0000309033" "CLN5" "0000309038" "CLN5" "0000309039" "CLN5" "0000309040" "CLN5" "0000309041" "CLN5" "0000375461" "CLN5" "0000375462" "CLN5" "0000385736" "CLN5" "0000385765" "CLN5" "0000416603" "CLN3" "0000416603" "CLN5" "0000416603" "CLN6" "0000416603" "CLN8" "0000416603" "CTSD" "0000416603" "MFSD8" "0000416603" "PPT1" "0000416603" "TPP1" ## 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 = 98 "{{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}}" "0000249932" "0" "10" "13" "77566158" "77566158" "subst" "0.0720351" "02329" "CLN5_000005" "g.77566158A>G" "" "" "" "CLN5(NM_006493.2):c.72A>G (p.G24=), CLN5(NM_006493.4):c.-76A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992023A>G" "" "benign" "" "0000252227" "0" "30" "13" "77569030" "77569030" "subst" "0" "02326" "CLN5_000011" "g.77569030A>G" "" "" "" "CLN5(NM_006493.2):c.321-168A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76994895A>G" "" "likely benign" "" "0000252228" "0" "30" "13" "77570302" "77570302" "subst" "0" "02326" "CLN5_000015" "g.77570302A>C" "" "" "" "CLN5(NM_006493.2):c.712+40A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76996167A>C" "" "likely benign" "" "0000253156" "0" "10" "13" "77566158" "77566158" "subst" "0.0720351" "01943" "CLN5_000005" "g.77566158A>G" "" "" "" "CLN5(NM_006493.2):c.72A>G (p.G24=), CLN5(NM_006493.4):c.-76A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992023A>G" "" "benign" "" "0000256173" "0" "50" "13" "77575046" "77575046" "subst" "6.16545E-5" "01943" "CLN5_000024" "g.77575046A>C" "" "" "" "CLN5(NM_006493.2):c.1166A>C (p.K389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77000911A>C" "" "VUS" "" "0000266844" "0" "30" "13" "77574606" "77574606" "subst" "0.00935694" "02325" "CLN5_000016" "g.77574606C>A" "" "" "" "CLN5(NM_006493.2):c.726C>A (p.N242K), CLN5(NM_006493.4):c.579C>A (p.N193K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77000471C>A" "" "likely benign" "" "0000268143" "0" "30" "13" "77566203" "77566203" "subst" "0" "02329" "CLN5_000006" "g.77566203G>T" "" "" "" "CLN5(NM_006493.4):c.-31G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992068G>T" "" "likely benign" "" "0000268144" "0" "30" "13" "77575068" "77575068" "subst" "0.00666294" "02329" "CLN5_000018" "g.77575068T>C" "" "" "" "CLN5(NM_006493.4):c.1041T>C (p.P347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77000933T>C" "" "likely benign" "" "0000268146" "0" "30" "13" "77566309" "77566309" "subst" "0.00179562" "02329" "CLN5_000008" "g.77566309T>C" "" "" "" "CLN5(NM_006493.2):c.223T>C (p.W75R), CLN5(NM_006493.4):c.76T>C (p.W26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992174T>C" "" "likely benign" "" "0000268147" "0" "10" "13" "77566424" "77566424" "subst" "0.0379321" "02329" "CLN5_000010" "g.77566424C>T" "" "" "" "CLN5(NM_006493.2):c.320+18C>T, CLN5(NM_006493.4):c.173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992289C>T" "" "benign" "" "0000268148" "0" "10" "13" "77566414" "77566414" "subst" "0.0690579" "02329" "CLN5_000009" "g.77566414C>T" "" "" "" "CLN5(NM_001366624.2):c.173+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992279C>T" "" "benign" "" "0000268149" "0" "30" "13" "77566135" "77566135" "subst" "0.000562382" "02329" "CLN5_000003" "g.77566135G>C" "" "" "" "CLN5(NM_006493.2):c.49G>C (p.G17R), CLN5(NM_006493.4):c.-99G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992000G>C" "" "likely benign" "" "0000268150" "0" "10" "13" "77570078" "77570078" "subst" "0.0200278" "02329" "CLN5_000012" "g.77570078T>G" "" "" "" "CLN5(NM_001366624.2):c.381T>G (p.T127=), CLN5(NM_006493.2):c.528T>G (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76995943T>G" "" "benign" "" "0000268151" "0" "30" "13" "77570156" "77570156" "subst" "0.000536023" "02329" "CLN5_000013" "g.77570156G>A" "" "" "" "CLN5(NM_006493.2):c.606G>A (p.M202I), CLN5(NM_006493.4):c.459G>A (p.M153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76996021G>A" "" "likely benign" "" "0000268152" "0" "30" "13" "77566151" "77566151" "subst" "5.0139E-5" "02329" "CLN5_000004" "g.77566151G>T" "" "" "" "CLN5(NM_006493.4):c.-83G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992016G>T" "" "likely benign" "" "0000268153" "0" "50" "13" "77566093" "77566093" "subst" "4.29569E-5" "02329" "CLN5_000001" "g.77566093C>T" "" "" "" "CLN5(NM_006493.4):c.-141C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76991958C>T" "" "VUS" "" "0000270286" "0" "10" "13" "77566424" "77566424" "subst" "0.0379321" "02326" "CLN5_000010" "g.77566424C>T" "" "" "" "CLN5(NM_006493.2):c.320+18C>T, CLN5(NM_006493.4):c.173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992289C>T" "" "benign" "" "0000270287" "0" "30" "13" "77570078" "77570078" "subst" "0.0200278" "02326" "CLN5_000012" "g.77570078T>G" "" "" "" "CLN5(NM_001366624.2):c.381T>G (p.T127=), CLN5(NM_006493.2):c.528T>G (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76995943T>G" "" "likely benign" "" "0000270288" "0" "10" "13" "77570301" "77570301" "subst" "8.16127E-5" "02326" "CLN5_000014" "g.77570301C>A" "" "" "" "CLN5(NM_006493.2):c.712+39C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76996166C>A" "" "benign" "" "0000270289" "0" "30" "13" "77574606" "77574606" "subst" "0.00935694" "02326" "CLN5_000016" "g.77574606C>A" "" "" "" "CLN5(NM_006493.2):c.726C>A (p.N242K), CLN5(NM_006493.4):c.579C>A (p.N193K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77000471C>A" "" "likely benign" "" "0000273609" "0" "50" "13" "77575029" "77575029" "subst" "0" "01943" "CLN5_000017" "g.77575029G>T" "" "" "" "CLN5(NM_006493.2):c.1149G>T (p.M383I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77000894G>T" "" "VUS" "" "0000273610" "0" "30" "13" "77566108" "77566108" "subst" "0.000151691" "01943" "CLN5_000002" "g.77566108G>C" "" "" "" "CLN5(NM_006493.2):c.22G>C (p.G8R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76991973G>C" "" "likely benign" "" "0000273611" "0" "10" "13" "77566424" "77566424" "subst" "0.0379321" "01943" "CLN5_000010" "g.77566424C>T" "" "" "" "CLN5(NM_006493.2):c.320+18C>T, CLN5(NM_006493.4):c.173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992289C>T" "" "benign" "" "0000273612" "0" "30" "13" "77566135" "77566135" "subst" "0.000562382" "01943" "CLN5_000003" "g.77566135G>C" "" "" "" "CLN5(NM_006493.2):c.49G>C (p.G17R), CLN5(NM_006493.4):c.-99G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992000G>C" "" "likely benign" "" "0000338759" "0" "10" "13" "77566424" "77566424" "subst" "0.0379321" "02327" "CLN5_000010" "g.77566424C>T" "" "" "" "CLN5(NM_006493.2):c.320+18C>T, CLN5(NM_006493.4):c.173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992289C>T" "" "benign" "" "0000342573" "0" "10" "13" "77566090" "77566090" "subst" "0.14542" "02327" "CLN5_000019" "g.77566090C>T" "" "" "" "CLN5(NM_006493.2):c.4C>T (p.R2C), CLN5(NM_006493.4):c.-144C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76991955C>T" "" "benign" "" "0000344297" "0" "70" "13" "77570128" "77570128" "subst" "0" "02327" "CLN5_000022" "g.77570128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76995993G>A" "" "likely pathogenic" "" "0000347544" "0" "10" "13" "77574983" "77574983" "subst" "0.140307" "02327" "CLN5_000023" "g.77574983A>G" "" "" "" "CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77000848A>G" "" "benign" "" "0000348287" "0" "30" "13" "77566147" "77566147" "subst" "0.00352148" "02327" "CLN5_000020" "g.77566147C>T" "" "" "" "CLN5(NM_006493.2):c.61C>T (p.P21S, p.(Pro21Ser)), CLN5(NM_006493.4):c.-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76992012C>T" "" "likely benign" "" "0000551043" "0" "30" "13" "77566088" "77566088" "subst" "0.00078107" "01943" "CLN5_000025" "g.77566088T>C" "" "" "" "CLN5(NM_006493.2):c.2T>C (p.M1?), CLN5(NM_006493.4):c.-146T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76991953T>C" "" "likely benign" "" "0000551045" "0" "50" "13" "77566088" "77566088" "subst" "0.00078107" "02325" "CLN5_000025" "g.77566088T>C" "" "" "" "CLN5(NM_006493.2):c.2T>C (p.M1?), CLN5(NM_006493.4):c.-146T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76991953T>C" "" "VUS" "" "0000551046" "0" "50" "13" "77566088" "77566088" "subst" "0.00078107" "02329" "CLN5_000025" "g.77566088T>C" "" "" "" "CLN5(NM_006493.2):c.2T>C (p.M1?), CLN5(NM_006493.4):c.-146T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76991953T>C" "" "VUS" "" "0000551047" "0" "10" "13" "77566090" "77566090" "subst" "0.14542" "01943" "CLN5_000019" "g.77566090C>T" "" "" "" "CLN5(NM_006493.2):c.4C>T (p.R2C), CLN5(NM_006493.4):c.-144C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76991955C>T" "" "benign" "" "0000551048" "0" "10" "13" "77566090" "77566090" "subst" "0.14542" "02326" "CLN5_000019" "g.77566090C>T" "" "" "" "CLN5(NM_006493.2):c.4C>T (p.R2C), CLN5(NM_006493.4):c.-144C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76991955C>T" "" "benign" "" "0000551049" "0" "10" "13" "77566090" "77566090" "subst" "0.14542" "02329" "CLN5_000019" "g.77566090C>T" "" "" "" "CLN5(NM_006493.2):c.4C>T (p.R2C), CLN5(NM_006493.4):c.-144C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76991955C>T" "" "benign" "" "0000551050" "0" "50" "13" "77566147" "77566147" "subst" "0.00352148" "01943" "CLN5_000020" "g.77566147C>T" "" "" "" "CLN5(NM_006493.2):c.61C>T (p.P21S, p.(Pro21Ser)), CLN5(NM_006493.4):c.-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992012C>T" "" "VUS" "" "0000551051" "0" "30" "13" "77566147" "77566147" "subst" "0.00352148" "02326" "CLN5_000020" "g.77566147C>T" "" "" "" "CLN5(NM_006493.2):c.61C>T (p.P21S, p.(Pro21Ser)), CLN5(NM_006493.4):c.-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992012C>T" "" "likely benign" "" "0000551052" "0" "10" "13" "77566147" "77566147" "subst" "0.00352148" "02329" "CLN5_000020" "g.77566147C>T" "" "" "" "CLN5(NM_006493.2):c.61C>T (p.P21S, p.(Pro21Ser)), CLN5(NM_006493.4):c.-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992012C>T" "" "benign" "" "0000551053" "0" "10" "13" "77566238" "77566238" "subst" "0.000681399" "01943" "CLN5_000026" "g.77566238C>T" "" "" "" "CLN5(NM_006493.2):c.152C>T (p.A51V), CLN5(NM_006493.4):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992103C>T" "" "benign" "" "0000551054" "0" "30" "13" "77566238" "77566238" "subst" "0.000681399" "02329" "CLN5_000026" "g.77566238C>T" "" "" "" "CLN5(NM_006493.2):c.152C>T (p.A51V), CLN5(NM_006493.4):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992103C>T" "" "likely benign" "" "0000551055" "0" "30" "13" "77566286" "77566291" "dup" "0" "02329" "CLN5_000027" "g.77566286_77566291dup" "" "" "" "CLN5(NM_006493.4):c.53_58dupGCGCGG (p.G18_A19dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992151_76992156dup" "" "likely benign" "" "0000551057" "0" "30" "13" "77566309" "77566309" "subst" "0.00179562" "01943" "CLN5_000008" "g.77566309T>C" "" "" "" "CLN5(NM_006493.2):c.223T>C (p.W75R), CLN5(NM_006493.4):c.76T>C (p.W26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992174T>C" "" "likely benign" "" "0000551058" "0" "30" "13" "77566309" "77566309" "subst" "0.00179562" "02325" "CLN5_000008" "g.77566309T>C" "" "" "" "CLN5(NM_006493.2):c.223T>C (p.W75R), CLN5(NM_006493.4):c.76T>C (p.W26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992174T>C" "" "likely benign" "" "0000551059" "0" "10" "13" "77566320" "77566320" "subst" "0.0238892" "02326" "CLN5_000029" "g.77566320C>G" "" "" "" "CLN5(NM_006493.2):c.234C>G (p.A78=), CLN5(NM_006493.4):c.87C>G (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992185C>G" "" "benign" "" "0000551060" "0" "10" "13" "77566320" "77566320" "subst" "0.0238892" "02329" "CLN5_000029" "g.77566320C>G" "" "" "" "CLN5(NM_006493.2):c.234C>G (p.A78=), CLN5(NM_006493.4):c.87C>G (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992185C>G" "" "benign" "" "0000551062" "0" "90" "13" "77570145" "77570145" "subst" "2.43645E-5" "01943" "CLN5_000030" "g.77570145C>T" "" "" "" "CLN5(NM_006493.2):c.595C>T (p.R199*), CLN5(NM_006493.4):c.448C>T (p.R150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76996010C>T" "" "pathogenic" "" "0000551063" "0" "70" "13" "77570145" "77570145" "subst" "2.43645E-5" "02325" "CLN5_000030" "g.77570145C>T" "" "" "" "CLN5(NM_006493.2):c.595C>T (p.R199*), CLN5(NM_006493.4):c.448C>T (p.R150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76996010C>T" "" "likely pathogenic" "" "0000551064" "0" "50" "13" "77570241" "77570241" "subst" "4.06131E-6" "01943" "CLN5_000031" "g.77570241G>A" "" "" "" "CLN5(NM_006493.2):c.691G>A (p.V231I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76996106G>A" "" "VUS" "" "0000551066" "0" "30" "13" "77574645" "77574645" "subst" "0" "01943" "CLN5_000032" "g.77574645A>C" "" "" "" "CLN5(NM_006493.2):c.765A>C (p.G255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000510A>C" "" "likely benign" "" "0000551067" "0" "10" "13" "77574983" "77574983" "subst" "0.140307" "01943" "CLN5_000023" "g.77574983A>G" "" "" "" "CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000848A>G" "" "benign" "" "0000551068" "0" "10" "13" "77574983" "77574983" "subst" "0.140307" "02325" "CLN5_000023" "g.77574983A>G" "" "" "" "CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000848A>G" "" "benign" "" "0000551069" "0" "10" "13" "77574983" "77574983" "subst" "0.140307" "02326" "CLN5_000023" "g.77574983A>G" "" "" "" "CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000848A>G" "" "benign" "" "0000551070" "0" "10" "13" "77574983" "77574983" "subst" "0.140307" "02329" "CLN5_000023" "g.77574983A>G" "" "" "" "CLN5(NM_006493.2):c.1103A>G (p.K368R), CLN5(NM_006493.4):c.956A>G (p.K319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000848A>G" "" "benign" "" "0000551071" "0" "30" "13" "77575065" "77575065" "subst" "2.54831E-5" "01943" "CLN5_000033" "g.77575065C>T" "" "" "" "CLN5(NM_006493.2):c.1185C>T (p.I395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000930C>T" "" "likely benign" "" "0000614678" "0" "30" "13" "77574952" "77574952" "subst" "4.13001E-6" "02329" "CLN5_000034" "g.77574952T>C" "" "" "" "CLN5(NM_006493.4):c.925T>C (p.L309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000817T>C" "" "likely benign" "" "0000623075" "0" "30" "13" "77570156" "77570156" "subst" "0.000536023" "01943" "CLN5_000013" "g.77570156G>A" "" "" "" "CLN5(NM_006493.2):c.606G>A (p.M202I), CLN5(NM_006493.4):c.459G>A (p.M153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76996021G>A" "" "likely benign" "" "0000648816" "1" "30" "13" "77570078" "77570078" "subst" "0.0200278" "03575" "CLN5_000012" "g.77570078T>G" "101/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "101 heterozygous; {DB:CLININrs34481987}" "Germline" "" "rs34481987" "0" "" "" "g.76995943T>G" "" "likely benign" "" "0000648817" "1" "10" "13" "77574606" "77574606" "subst" "0.00935694" "03575" "CLN5_000016" "g.77574606C>A" "60/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "60 heterozygous, no homozygous; {DB:CLININrs138611001}" "Germline" "" "rs138611001" "0" "" "" "g.77000471C>A" "" "benign" "" "0000648818" "1" "90" "13" "77574715" "77574715" "subst" "8.12361E-6" "03575" "CLN5_000036" "g.77574715G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28940280}" "Germline" "" "rs28940280" "0" "" "" "g.77000580G>A" "" "pathogenic" "" "0000648819" "1" "50" "13" "77575072" "77575072" "subst" "8.86263E-5" "03575" "CLN5_000037" "g.77575072C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs41287036}" "Germline" "" "rs41287036" "0" "" "" "g.77000937C>T" "" "VUS" "" "0000653256" "1" "50" "13" "77569212" "77569212" "subst" "8.12922E-6" "03575" "CLN5_000035" "g.77569212G>A" "2/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104894386}" "Germline" "" "rs104894386" "0" "" "" "g.76995077G>A" "" "VUS" "" "0000657317" "0" "30" "13" "77566361" "77566361" "subst" "0" "01943" "CLN5_000038" "g.77566361G>A" "" "" "" "CLN5(NM_006493.2):c.275G>A (p.R92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76992226G>A" "" "likely benign" "" "0000657318" "0" "50" "13" "77574710" "77574710" "subst" "4.06174E-6" "02325" "CLN5_000039" "g.77574710C>T" "" "" "" "CLN5(NM_006493.4):c.683C>T (p.S228F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77000575C>T" "" "VUS" "" "0000669232" "3" "30" "13" "77570078" "77570078" "subst" "0.0200278" "03575" "CLN5_000012" "g.77570078T>G" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs34481987}" "Germline" "" "rs34481987" "0" "" "" "g.76995943T>G" "" "likely benign" "" "0000679845" "0" "50" "13" "77566294" "77566294" "subst" "0.000118269" "01943" "CLN5_000028" "g.77566294C>T" "" "" "" "CLN5(NM_006493.2):c.208C>T (p.R70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683476" "3" "70" "13" "77566356" "77566356" "subst" "0" "03765" "CLN5_000044" "g.77566356G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683477" "3" "70" "13" "77566356" "77566356" "subst" "0" "03765" "CLN5_000044" "g.77566356G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683487" "3" "70" "13" "77569240" "77569240" "del" "0" "03765" "CLN5_000021" "g.77569240del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683488" "3" "70" "13" "77569316" "77569316" "subst" "0" "03765" "CLN5_000043" "g.77569316C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683489" "3" "70" "13" "77570207" "77570211" "dup" "0" "03765" "CLN5_000042" "g.77570207_77570211dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683490" "3" "70" "13" "77574702" "77574702" "subst" "0" "03765" "CLN5_000040" "g.77574702G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683491" "3" "70" "13" "77570263" "77570263" "subst" "0" "03765" "CLN5_000041" "g.77570263G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000691564" "0" "90" "13" "77566133" "77566145" "del" "0" "01943" "CLN5_000045" "g.77566133_77566145del" "" "" "" "CLN5(NM_006493.2):c.47_59delAGGGGCAAGGCGC (p.Q16Pfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724575" "0" "50" "13" "77566264" "77566264" "subst" "0.00021348" "01943" "CLN5_000046" "g.77566264G>T" "" "" "" "CLN5(NM_006493.2):c.178G>T (p.A60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724576" "0" "90" "13" "77570145" "77570145" "subst" "2.43645E-5" "02329" "CLN5_000030" "g.77570145C>T" "" "" "" "CLN5(NM_006493.2):c.595C>T (p.R199*), CLN5(NM_006493.4):c.448C>T (p.R150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724577" "0" "30" "13" "77570279" "77570279" "subst" "0" "02329" "CLN5_000047" "g.77570279T>C" "" "" "" "CLN5(NM_006493.4):c.565+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724578" "0" "10" "13" "77574606" "77574606" "subst" "0.00935694" "02329" "CLN5_000016" "g.77574606C>A" "" "" "" "CLN5(NM_006493.2):c.726C>A (p.N242K), CLN5(NM_006493.4):c.579C>A (p.N193K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724579" "0" "30" "13" "77575053" "77575053" "subst" "0.000234805" "01943" "CLN5_000048" "g.77575053A>G" "" "" "" "CLN5(NM_006493.2):c.1173A>G (p.T391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724580" "0" "50" "13" "77575075" "77575078" "dup" "0" "01943" "CLN5_000049" "g.77575075_77575078dup" "" "" "" "CLN5(NM_006493.2):c.1195_1198dupATCA (p.R400Nfs*131)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786812" "3" "90" "13" "77570145" "77570145" "subst" "2.43645E-5" "00006" "CLN5_000030" "g.77570145C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.76996010C>T" "" "pathogenic" "" "0000786813" "3" "70" "13" "77574626" "77574627" "ins" "0" "00006" "CLN5_000050" "g.77574626_77574627insCA" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.77000491_77000492insCA" "" "likely pathogenic" "" "0000812851" "0" "70" "13" "77574951" "77574952" "del" "0" "00000" "CLN5_000052" "g.77574951_77574952del" "" "{PMID:Surl 2020:32165824}" "" "2 compound heterozygous AR CLN5 c.1068_1069del (Xin et al., 2010) p.(L358AfsX4) c.1100_1103del (Kohan et al., 2008) p.(K368SfsX15)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.77000816_77000817del" "" "likely pathogenic" "" "0000812854" "0" "70" "13" "77574983" "77574986" "del" "0" "00000" "CLN5_000053" "g.77574983_77574986del" "" "{PMID:Surl 2020:32165824}" "" "2 compound heterozygous AR CLN5 c.1068_1069del (Xin et al., 2010) p.(L358AfsX4) c.1100_1103del (Kohan et al., 2008) p.(K368SfsX15)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.77000848_77000851del" "" "likely pathogenic" "" "0000812883" "3" "70" "13" "77570095" "77570095" "subst" "4.06068E-6" "00000" "CLN5_000051" "g.77570095T>G" "" "{PMID:Jilani 2019:31741823}" "" "c.545T>G, p.(Met182Arg)" "homozygous" "Germline" "?" "" "0" "" "" "g.76995960T>G" "" "likely pathogenic" "" "0000863410" "0" "30" "13" "77566147" "77566147" "subst" "0.00352148" "01804" "CLN5_000020" "g.77566147C>T" "" "" "" "CLN5(NM_006493.2):c.61C>T (p.P21S, p.(Pro21Ser)), CLN5(NM_006493.4):c.-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863411" "0" "30" "13" "77566160" "77566160" "subst" "1.83321E-5" "01943" "CLN5_000054" "g.77566160T>C" "" "" "" "CLN5(NM_006493.2):c.74T>C (p.L25P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863412" "0" "30" "13" "77574751" "77574751" "subst" "0" "01943" "CLN5_000055" "g.77574751T>C" "" "" "" "CLN5(NM_006493.2):c.871T>C (p.L291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874758" "0" "50" "13" "77569347" "77569347" "subst" "3.65595E-5" "00000" "CLN5_000056" "g.77569347A>C" "" "{PMID:Craiu 2015:25439737}" "" "CLN5 c.470A>C p.Asp157Ala" "heterozygous; single variant in a recessive gene" "Germline" "yes" "" "0" "" "" "g.76995212A>C" "" "VUS" "" "0000908853" "3" "70" "13" "77566411" "77566411" "subst" "0" "00006" "CLN5_000057" "g.77566411G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice donor; RNA analysis suggests alternative transcription initiation" "Germline" "" "" "0" "" "" "g.76992276G>A" "" "pathogenic (recessive)" "" "0000931776" "1" "90" "13" "77566088" "77566088" "subst" "0.00078107" "00006" "CLN5_000025" "g.77566088T>C" "" "{PMID:Rots 2023:37196654}" "" "" "" "Germline" "" "" "0" "" "" "g.76991953T>C" "" "pathogenic (recessive)" "" "0000959461" "0" "90" "13" "77575017" "77575017" "subst" "0" "00006" "CLN5_000058" "g.77575017G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.77000882G>A" "" "pathogenic (recessive)" "ACMG" "0000980712" "0" "50" "13" "77570184" "77570184" "subst" "0" "01804" "CLN5_000059" "g.77570184G>T" "" "" "" "CLN5(NM_006493.4):c.487G>T (p.(Ala163Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980713" "0" "50" "13" "77575072" "77575072" "subst" "8.86263E-5" "01804" "CLN5_000037" "g.77575072C>T" "" "" "" "CLN5(NM_006493.2):c.1192C>T (p.(Pro349Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012387" "3" "50" "13" "77569212" "77569212" "subst" "0" "00006" "CLN5_000060" "g.77569212G>C" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.76995077G>C" "" "VUS" "" "0001012422" "1" "50" "13" "77570156" "77570156" "subst" "0.000536023" "00006" "CLN5_000013" "g.77570156G>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.76996021G>A" "" "VUS" "" "0001012427" "1" "50" "13" "77574606" "77574606" "subst" "0.00935694" "00006" "CLN5_000016" "g.77574606C>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.77000471C>A" "" "VUS" "" "0001012432" "1" "50" "13" "77570156" "77570156" "subst" "0.000536023" "00006" "CLN5_000013" "g.77570156G>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.76996021G>A" "" "VUS" "" "0001012435" "3" "90" "13" "77574715" "77574715" "subst" "8.12361E-6" "00006" "CLN5_000036" "g.77574715G>A" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.77000580G>A" "" "pathogenic (recessive)" "" ## 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 CLN5 ## Count = 98 "{{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}}" "0000249932" "00001721" "10" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Gly24=)" "" "0000252227" "00001721" "30" "321" "-168" "321" "-168" "c.321-168A>G" "r.(=)" "p.(=)" "" "0000252228" "00001721" "30" "712" "40" "712" "40" "c.712+40A>C" "r.(=)" "p.(=)" "" "0000253156" "00001721" "10" "72" "0" "72" "0" "c.72A>G" "r.(?)" "p.(Gly24=)" "" "0000256173" "00001721" "50" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Lys389Thr)" "" "0000266844" "00001721" "30" "726" "0" "726" "0" "c.726C>A" "r.(?)" "p.(Asn242Lys)" "" "0000268143" "00001721" "30" "117" "0" "117" "0" "c.117G>T" "r.(?)" "p.(Ser39=)" "" "0000268144" "00001721" "30" "1188" "0" "1188" "0" "c.1188T>C" "r.(?)" "p.(Pro396=)" "" "0000268146" "00001721" "30" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Trp75Arg)" "" "0000268147" "00001721" "10" "320" "18" "320" "18" "c.320+18C>T" "r.(=)" "p.(=)" "" "0000268148" "00001721" "10" "320" "8" "320" "8" "c.320+8C>T" "r.(=)" "p.(=)" "" "0000268149" "00001721" "30" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "" "0000268150" "00001721" "10" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Thr176=)" "" "0000268151" "00001721" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Met202Ile)" "" "0000268152" "00001721" "30" "65" "0" "65" "0" "c.65G>T" "r.(?)" "p.(Arg22Leu)" "" "0000268153" "00001721" "50" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Trp)" "" "0000270286" "00001721" "10" "320" "18" "320" "18" "c.320+18C>T" "r.(=)" "p.(=)" "" "0000270287" "00001721" "30" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Thr176=)" "" "0000270288" "00001721" "10" "712" "39" "712" "39" "c.712+39C>A" "r.(=)" "p.(=)" "" "0000270289" "00001721" "30" "726" "0" "726" "0" "c.726C>A" "r.(?)" "p.(Asn242Lys)" "" "0000273609" "00001721" "50" "1149" "0" "1149" "0" "c.1149G>T" "r.(?)" "p.(Met383Ile)" "" "0000273610" "00001721" "30" "22" "0" "22" "0" "c.22G>C" "r.(?)" "p.(Gly8Arg)" "" "0000273611" "00001721" "10" "320" "18" "320" "18" "c.320+18C>T" "r.(=)" "p.(=)" "" "0000273612" "00001721" "30" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "" "0000338759" "00001721" "10" "320" "18" "320" "18" "c.320+18C>T" "r.(=)" "p.(=)" "" "0000342573" "00001721" "10" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Cys)" "" "0000344297" "00001721" "70" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Cys193Tyr)" "" "0000347544" "00001721" "10" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Lys368Arg)" "" "0000348287" "00001721" "30" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Pro21Ser)" "" "0000551043" "00001721" "30" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000551045" "00001721" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000551046" "00001721" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000551047" "00001721" "10" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Cys)" "" "0000551048" "00001721" "10" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Cys)" "" "0000551049" "00001721" "10" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Cys)" "" "0000551050" "00001721" "50" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Pro21Ser)" "" "0000551051" "00001721" "30" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Pro21Ser)" "" "0000551052" "00001721" "10" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Pro21Ser)" "" "0000551053" "00001721" "10" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "" "0000551054" "00001721" "30" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ala51Val)" "" "0000551055" "00001721" "30" "200" "0" "205" "0" "c.200_205dup" "r.(?)" "p.(Gly67_Ala68dup)" "" "0000551057" "00001721" "30" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Trp75Arg)" "" "0000551058" "00001721" "30" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Trp75Arg)" "" "0000551059" "00001721" "10" "234" "0" "234" "0" "c.234C>G" "r.(?)" "p.(Ala78=)" "" "0000551060" "00001721" "10" "234" "0" "234" "0" "c.234C>G" "r.(?)" "p.(Ala78=)" "" "0000551062" "00001721" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Ter)" "" "0000551063" "00001721" "70" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Ter)" "" "0000551064" "00001721" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Val231Ile)" "" "0000551066" "00001721" "30" "765" "0" "765" "0" "c.765A>C" "r.(?)" "p.(Gly255=)" "" "0000551067" "00001721" "10" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Lys368Arg)" "" "0000551068" "00001721" "10" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Lys368Arg)" "" "0000551069" "00001721" "10" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Lys368Arg)" "" "0000551070" "00001721" "10" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Lys368Arg)" "" "0000551071" "00001721" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Ile395=)" "" "0000614678" "00001721" "30" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Leu358=)" "" "0000623075" "00001721" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Met202Ile)" "" "0000648816" "00001721" "30" "528" "0" "528" "0" "c.528T>G" "r.(=)" "p.(=)" "" "0000648817" "00001721" "10" "726" "0" "726" "0" "c.726C>A" "r.(?)" "p.(Asn242Lys)" "" "0000648818" "00001721" "90" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Asp279Asn)" "" "0000648819" "00001721" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Pro398Ser)" "" "0000653256" "00001721" "50" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112His)" "" "0000657317" "00001721" "30" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000657318" "00001721" "50" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ser277Phe)" "" "0000669232" "00001721" "30" "528" "0" "528" "0" "c.528T>G" "r.(=)" "p.(=)" "" "0000679845" "00001721" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "" "0000683476" "00001721" "70" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Trp90*)" "1" "0000683477" "00001721" "70" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Trp90*)" "1" "0000683487" "00001721" "70" "363" "0" "363" "0" "c.363del" "r.(?)" "p.(Lys122Serfs*41)" "2" "0000683488" "00001721" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" "2" "0000683489" "00001721" "70" "657" "0" "661" "0" "c.657_661dup" "r.(?)" "p.(Asp221Valfs*12)" "3" "0000683490" "00001721" "70" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Trp274*)" "4" "0000683491" "00001721" "70" "712" "1" "712" "1" "c.712+1G>A" "r.spl?" "p.?" "3i" "0000691564" "00001721" "90" "47" "0" "59" "0" "c.47_59del" "r.(?)" "p.(Gln16ProfsTer30)" "" "0000724575" "00001721" "50" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Ala60Ser)" "" "0000724576" "00001721" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Ter)" "" "0000724577" "00001721" "30" "712" "17" "712" "17" "c.712+17T>C" "r.(=)" "p.(=)" "" "0000724578" "00001721" "10" "726" "0" "726" "0" "c.726C>A" "r.(?)" "p.(Asn242Lys)" "" "0000724579" "00001721" "30" "1173" "0" "1173" "0" "c.1173A>G" "r.(?)" "p.(Thr391=)" "" "0000724580" "00001721" "50" "1195" "0" "1198" "0" "c.1195_1198dup" "r.(?)" "p.(Arg400Asnfs*131)" "" "0000786812" "00001721" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Ter)" "3" "0000786813" "00001721" "70" "746" "0" "747" "0" "c.746_747insCA" "r.(?)" "p.(Lys249AsnfsTer16)" "4" "0000812851" "00001721" "70" "1068" "0" "1069" "0" "c.1068_1069del" "r.(?)" "p.(Leu358Alafs*4)" "" "0000812854" "00001721" "70" "1100" "0" "1103" "0" "c.1100_1103del" "r.(?)" "p.(Lys368Serfs*15)" "" "0000812883" "00001721" "70" "545" "0" "545" "0" "c.545T>G" "r.(?)" "p.(Met182Arg)" "" "0000863410" "00001721" "30" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Pro21Ser)" "" "0000863411" "00001721" "30" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Leu25Pro)" "" "0000863412" "00001721" "30" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Leu291=)" "" "0000874758" "00001721" "50" "470" "0" "470" "0" "c.470A>C" "r.(?)" "p.(Asp157Ala)" "" "0000908853" "00001721" "70" "320" "5" "320" "5" "c.320+5G>A" "r.[320_321ins[gugaa;320+6_320+581],160_320del]" "p.[Arg108*,Val54Alafs*3]" "" "0000931776" "00001721" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000959461" "00001721" "90" "1137" "0" "1137" "0" "c.1137G>A" "r.(?)" "p.(Trp379Ter)" "" "0000980712" "00001721" "50" "634" "0" "634" "0" "c.634G>T" "r.(?)" "p.(Ala212Ser)" "" "0000980713" "00001721" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Pro398Ser)" "" "0001012387" "00001721" "50" "335" "0" "335" "0" "c.335G>C" "r.(?)" "p.(Arg112Pro)" "" "0001012422" "00001721" "50" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Met202Ile)" "" "0001012427" "00001721" "50" "726" "0" "726" "0" "c.726C>A" "r.(?)" "p.(Asn242Lys)" "" "0001012432" "00001721" "50" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Met202Ile)" "" "0001012435" "00001721" "90" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Asp279Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000292127" "0000648816" "0000292128" "0000648817" "0000292129" "0000648818" "0000292130" "0000648819" "0000296567" "0000653256" "0000305544" "0000669232" "0000309030" "0000683476" "0000309031" "0000683477" "0000309033" "0000683487" "0000309038" "0000683488" "0000309039" "0000683489" "0000309040" "0000683490" "0000309041" "0000683491" "0000375461" "0000786812" "0000375462" "0000786813" "0000385736" "0000812851" "0000385736" "0000812854" "0000385765" "0000812883" "0000416603" "0000874758" "0000429380" "0000908853" "0000436973" "0000931776" "0000449266" "0000959461" "0000457840" "0001012387" "0000457840" "0001012435" "0000457875" "0001012422" "0000457880" "0001012427" "0000457885" "0001012432"