### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HEPACAM) # 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}}" "HEPACAM" "hepatic and glial cell adhesion molecule" "11" "q24.2" "unknown" "NC_000011.9" "UD_132118216540" "" "https://www.LOVD.nl/HEPACAM" "" "1" "26361" "220296" "611642" "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/HEPACAM_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-09 19:18:51" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009260" "HEPACAM" "hepatic and glial cell adhesion molecule" "001" "NM_152722.4" "" "NP_689935.2" "" "" "" "-406" "3140" "1251" "124806308" "124789145" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00805" "MLC2A" "leukoencephalopathy, megalencephalic, with subcortical cysts, type 2A (MLC2A)" "AR" "613925" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 10:06:49" "00806" "MLC2B" "leukoencephalopathy, megalencephalic with subcortical cysts 2B, remitting, with/without mental retardation, type 2B (MLC2B)" "AD" "613926" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 10:08:23" "02477" "MLC" "leukoencephalopathy, megalencephalic, with subcortical cysts (MLC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 10:04:14" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "HEPACAM" "00139" "HEPACAM" "00805" "HEPACAM" "00806" "HEPACAM" "02477" ## Individuals ## Do not remove or alter this header ## ## Count = 68 "{{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}}" "00000150" "" "" "" "23" "" "00014" "{PMID:Hollegaard 2013:22837141}" "association study, analysis 159 controls" "" "" "Denmark" "" "0" "" "" "" "controls" "00290283" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00358879" "" "" "" "1" "" "03566" "" "" "" "?" "" "" "" "" "" "" "HEPACAM" "00441953" "" "" "" "2" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "family, 2 affected" "F" "no" "Germany" "" "0" "" "" "" "PatEL85" "00441954" "" "" "00441953" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "sib" "F" "no" "Germany" "" "0" "" "" "" "PatEL84" "00441955" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "Germany;Turkey" "" "0" "" "" "" "PatEL125" "00441956" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "PatEL106" "00441957" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "United States" "" "0" "" "" "" "PatEL726" "00441958" "" "" "" "2" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "family, 2 affected" "F" "yes" "Turkey" "" "0" "" "" "" "PatEL889" "00441959" "" "" "00441958" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "sib" "F" "yes" "Turkey" "" "0" "" "" "" "PatEL890" "00441960" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "yes" "Turkey" "" "0" "" "" "" "PatEL816" "00441961" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "yes" "Hungary" "" "0" "" "" "" "PatEL774" "00441962" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "Ireland" "" "0" "" "" "" "PatEL785" "00441963" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "Portugal" "" "0" "" "" "" "PatEL611" "00441964" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatEL700" "00441965" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "Australia" "" "0" "" "" "" "PatEL158" "00441966" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "United States" "" "0" "" "" "" "PatEL128" "00441967" "" "" "" "2" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "family, 2 affected" "M" "no" "United Kingdom (Great Britain)" "3y6m" "0" "" "" "" "PatEL624" "00441968" "" "" "00441967" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "sib" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatEL625" "00441969" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "United States" "" "0" "" "" "" "PatEL683" "00441970" "" "" "" "2" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "family, 2 affected" "M" "no" "United States" "" "0" "" "" "" "PatEL684" "00441971" "" "" "00441970" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "sib" "M" "no" "United States" "" "0" "" "" "" "PatEL604" "00441972" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "Australia" "" "0" "" "" "" "PatEL708" "00441973" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "Hong Kong" "" "0" "" "" "" "PatEL847" "00441974" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "Finland" "" "0" "" "" "" "PatEL686" "00441975" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "yes" "India" "" "0" "" "" "" "PatEL743" "00441976" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "Austria" "" "0" "" "" "" "PatEL775" "00441977" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "Belgium" "" "0" "" "" "" "PatEL903" "00441978" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "M" "no" "Netherlands" "" "0" "" "" "" "PatEL882" "00441979" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "PatEL862" "00441980" "" "" "" "1" "" "04518" "{PMID:Lopez-Hernandez 2011:21419380}" "" "F" "no" "United States" "" "0" "" "" "" "PatEL944" "00441981" "" "" "" "1" "" "04518" "{PMID:Shi 2019:31372844}" "" "" "" "China" "" "0" "" "" "" "Pat6" "00441982" "" "" "" "1" "" "04518" "{PMID:Shi 2019:31372844}" "" "" "" "China" "" "0" "" "" "" "Pat4" "00441983" "" "" "" "1" "" "04518" "{PMID:Shi 2019:31372844}" "" "" "" "China" "" "0" "" "" "" "Pat1" "00441984" "" "" "" "1" "" "04518" "{PMID:Shi 2019:31372844}" "" "" "" "China" "" "0" "" "" "" "Pat2" "00441985" "" "" "" "1" "" "04518" "{PMID:Shi 2019:31372844}" "" "" "" "China" "" "0" "" "" "" "Pat3" "00441986" "" "" "" "1" "" "04518" "{PMID:Shi 2019:31372844}" "" "" "" "China" "" "0" "" "" "" "Pat5" "00441987" "" "" "" "1" "" "04518" "{PMID:Abdel-Salam 2016:27389245}" "" "" "" "Egypt" "" "0" "" "" "" "Pat11" "00441988" "" "" "" "1" "" "04518" "{PMID:Abdel-Salam 2016:27389245}" "" "" "" "Egypt" "" "0" "" "" "" "Pat12" "00441989" "" "" "" "1" "" "04518" "{PMID:Cao 2016:27322623}" "" "" "" "China" "" "0" "" "" "" "Pat19" "00441990" "" "" "" "1" "" "04518" "{PMID:Wang 2011:21160490}, {PMID:Cao 2016:27322623}" "" "M" "" "China" "" "0" "" "" "" "Pat9;Pat16" "00441991" "" "" "" "1" "" "04518" "{PMID:Cao 2016:27322623}" "" "" "" "China" "" "0" "" "" "" "Pat17" "00441992" "" "" "" "1" "" "04518" "{PMID:Cao 2016:27322623}" "" "" "" "China" "" "0" "" "" "" "Pat18" "00441993" "" "" "" "1" "" "04518" "" "" "" "" "Denmark" "" "0" "" "" "" "" "00441994" "" "" "" "1" "" "04518" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00441995" "" "" "" "1" "" "04518" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00441996" "" "" "" "1" "" "04518" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00441997" "" "" "" "1" "" "04518" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00441998" "" "" "" "1" "" "04518" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00441999" "" "" "" "1" "" "04518" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00442000" "" "" "" "1" "" "04518" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00442001" "" "" "" "1" "" "04518" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00442002" "" "" "" "1" "" "04518" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00442003" "" "" "" "1" "" "04518" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00442004" "" "" "" "1" "" "04518" "" "" "" "" "Australia" "" "0" "" "" "" "" "00442005" "" "" "" "1" "" "04518" "" "" "" "" "Australia" "" "0" "" "" "" "" "00442006" "" "" "" "1" "" "04518" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00442007" "" "" "" "1" "" "04518" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00442008" "" "" "" "1" "" "04518" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00442009" "" "" "" "1" "" "04518" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00442010" "" "" "" "1" "" "04518" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00442011" "" "" "" "1" "" "04518" "" "" "" "" "" "" "0" "" "" "" "" "00442012" "" "" "" "1" "" "04518" "" "" "" "" "Pakistan" "" "0" "" "" "" "" "00442013" "" "" "" "1" "" "04518" "" "" "" "" "Malaysia" "" "0" "" "" "" "" "00442014" "" "" "" "1" "" "04518" "" "" "" "" "Turkey" "" "0" "" "" "" "" "00442015" "" "" "" "1" "" "04518" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00455777" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat17" "00468968" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 68 "{{individualid}}" "{{diseaseid}}" "00000150" "00000" "00290283" "00198" "00358879" "00198" "00441953" "02477" "00441954" "02477" "00441955" "02477" "00441956" "02477" "00441957" "02477" "00441958" "02477" "00441959" "02477" "00441960" "02477" "00441961" "02477" "00441962" "02477" "00441963" "02477" "00441964" "02477" "00441965" "02477" "00441966" "02477" "00441967" "02477" "00441968" "02477" "00441969" "02477" "00441970" "02477" "00441971" "02477" "00441972" "02477" "00441973" "02477" "00441974" "02477" "00441975" "02477" "00441976" "02477" "00441977" "02477" "00441978" "02477" "00441979" "02477" "00441980" "02477" "00441981" "02477" "00441982" "02477" "00441983" "02477" "00441984" "02477" "00441985" "02477" "00441986" "02477" "00441987" "02477" "00441988" "02477" "00441989" "02477" "00441990" "02477" "00441991" "02477" "00441992" "02477" "00441993" "02477" "00441994" "02477" "00441995" "02477" "00441996" "02477" "00441997" "02477" "00441998" "02477" "00441999" "02477" "00442000" "02477" "00442001" "02477" "00442002" "02477" "00442003" "02477" "00442004" "02477" "00442005" "02477" "00442006" "02477" "00442007" "02477" "00442008" "02477" "00442009" "02477" "00442010" "02477" "00442011" "02477" "00442012" "02477" "00442013" "02477" "00442014" "02477" "00442015" "02477" "00455777" "00198" "00468968" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00805, 00806, 02477 ## Count = 66 "{{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}}" "0000254138" "00198" "00358879" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000331336" "02477" "00441953" "04518" "Familial, autosomal recessive" "38y" "macrocephaly; normal early motor development; 18m-walk; normal language development; 2y-detoriation; ataxia, spasticity,; late cognitive; decline; 7y-wheelchair-bound; 11y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs" "1y" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331337" "02477" "00441954" "04518" "Familial, autosomal recessive" "37y" "macrocephaly; mildly delayed early motor development; 24m-walk; normal language development; 5y6m-detoriation; ataxia, spasticity,; dystonia, late mild; cognitive decline; 14y-wheelchair-bound; 32y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs" "<1y" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331338" "02477" "00441955" "04518" "Familial, autosomal recessive" "18y" "ataxia; normal early motor development; 18m-walk; normal language development; 3y-detoriation; ataxia; still ambulant; no seizures; no intellectual disability; OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs" "<3y" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331339" "02477" "00441956" "04518" "Familial, autosomal recessive" "13y" "macrocephaly; delayed early motor development; 24m-walk; normal language development; 7y-detoriation; loss of speech; tube feeding; 7y-wheelchair-bound; 2y-seizures; intellectual disability (IQ50); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs" "1y" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331340" "02477" "00441957" "04518" "Familial, autosomal recessive" "10y" "macrocephaly; normal early motor development; 14m-walk; normal language development; 4y-detoriation; ataxia, dysarthria, ataxia, dysarthria; 7y-wheelchair-bound; 3y-seizures; intellectual disability (IQ75); OFC >98perc.; dysarthria; dysphagia; spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs" "3m" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331341" "02477" "00441958" "04518" "Familial, autosomal recessive" "7y6m" "macrocephaly; normal early motor development; 15m-walk; normal language development; 4y-detoriation; spasticity; still ambulant; 4y-seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs" "1d" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331342" "02477" "00441959" "04518" "Familial, autosomal recessive" "11y" "macrocephaly; normal early motor development; 17m-walk; normal language development; 17m-detoriation; spasticity; still ambulant; no seizures; intellectual disability (IQ70); OFC >98perc.; no dysarthria; no dysphagia; no spasticity arms; no cerebellar ataxia arms; spasticity legs; no cerebellar ataxia legs" "1d" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331343" "02477" "00441960" "04518" "Familial, autosomal recessive" "8y" "febrile seizure; normal early motor development; 14m-walk; normal language development; 1y-detoriation; ataxia,; seizures; still ambulant; 1y-seizures; intellectual disability (IQ55); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs" "1y" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331344" "02477" "00441961" "04518" "Familial, autosomal recessive" "6y" "macrocephaly; mildly delayed early motor development; 26m-walk; delayed language development; 3y-detoriation; seizures,; cognitive; decline; still ambulant; 3y-seizures; OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; spasticity legs; cerebellar ataxia legs" "<1y" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331345" "02477" "00441962" "04518" "Familial, autosomal recessive" "5y" "macrocephaly; mildly delayed early motor development; 16m-walk; mildly delayed language development; no detoriation; still ambulant; 2y-seizures; intellectual disability (IQ60); OFC >98perc.; dysarthria; no dysphagia; no spasticity arms; cerebellar ataxia arms; no spasticity legs; cerebellar ataxia legs" "1d" "" "" "" "" "" "" "" "MLC2A" "classical megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331346" "02477" "00441963" "04518" "Unknown" "13y" "macrocephaly; delayed early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "5m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331347" "02477" "00441964" "04518" "Unknown" "12y" "macrocephaly; normal early motor development; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "8m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331348" "02477" "00441965" "04518" "Unknown" "10y" "transient macrocephaly; delayed early motor development; 22m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs" "6m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331349" "02477" "00441966" "04518" "Unknown" "12y" "macrocephaly; delayed early motor development; 18m-walk; no speech; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC now 60->98perc.; cranial nerves normal; no hypotonia arms; no hypotonia legs" "4m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331350" "02477" "00441967" "04518" "Unknown" "3y" "3y6m-deceased (seizures); seizures, macrocephaly; delayed early motor development; 20m-walk; delayed language development; epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; hypotonia arms; clumsy with arms; hypotonia legs; clumsy with legs" "4m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331351" "02477" "00441968" "04518" "Unknown" "6y" "macrocephaly; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ75); OFC 90perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs" "6m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331352" "02477" "00441969" "04518" "Unknown" "8y6m" "macrocephaly, delay; delayed early motor development; 14m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs" "7m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331353" "02477" "00441970" "04518" "Unknown" "5y6m" "macrocephaly, delay; delayed early motor development; 17m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs" "4m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331354" "02477" "00441971" "04518" "Unknown" "9y6m" "macrocephaly; delayed early motor development; 13m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs" "11m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331355" "02477" "00441972" "04518" "Unknown" "6½y" "macrocephaly; normal early motor development; 14m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; clumsy with arms; no hypotonia legs; clumsy with legs" "9m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331356" "02477" "00441973" "04518" "Unknown" "6y" "macrocephaly; normal early motor development; 16m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "6m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331357" "02477" "00441974" "04518" "Unknown" "5y6m" "perinatal problems, small for gestational age, microcephaly, hypotonia; delayed early motor development; 32m-walk; delayed language development; no epilepsy; no autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; cranial nerves normal; mild hypotonia arms; clumsy with arms; mild hypotonia legs; no motor signs legs" "1d" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331358" "02477" "00441975" "04518" "Unknown" "2y9m" "macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ50); OFC >98perc.; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs" "4m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331359" "02477" "00441976" "04518" "Unknown" "5y" "macrocephaly; normal early motor development; 16m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; dysarthria NL; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "4m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331360" "02477" "00441977" "04518" "Unknown" "3y" "transient macrocephaly; delayed early motor development; 18m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC 75perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "8m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331361" "02477" "00441978" "04518" "Unknown" "2y" "macrocephaly; normal early motor development; 14m-walk; delayed language development; no epilepsy; autism; no deterioration; intellectual disability (IQ70); OFC >98perc.; cranial nerves normal; mild hypotonia arms; no motor signsarms; mild hypotonia legs; no motor signs legs" "3m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331362" "02477" "00441979" "04518" "Unknown" "2y9m" "macrocephaly; delayed early motor development; 22m-walk; delayed language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "7m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331363" "02477" "00441980" "04518" "Unknown" "1y6m" "macrocephaly; normal early motor development; 14m-walk; normal language development; no epilepsy; no autism; no deterioration; no intellectual disability; OFC >98perc.; cranial nerves normal; no hypotonia arms; no motor signsarms; no hypotonia legs; no motor signs legs" "5m" "" "" "" "" "" "" "" "MLC2B" "improving megalencephalic leukoencephalopathy with subcortical cysts phenotype" "" "0000331364" "02477" "00441981" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331365" "02477" "00441982" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331366" "02477" "00441983" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331367" "02477" "00441984" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331368" "02477" "00441985" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331369" "02477" "00441986" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331370" "02477" "00441987" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331371" "02477" "00441988" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331372" "02477" "00441989" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331373" "02477" "00441990" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331374" "02477" "00441991" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331375" "02477" "00441992" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331376" "02477" "00441993" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331377" "02477" "00441994" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331378" "02477" "00441995" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331379" "02477" "00441996" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331380" "02477" "00441997" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331381" "02477" "00441998" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331382" "02477" "00441999" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331383" "02477" "00442000" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331384" "02477" "00442001" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331385" "02477" "00442002" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331386" "02477" "00442003" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331387" "02477" "00442004" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331388" "02477" "00442005" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331389" "02477" "00442006" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331390" "02477" "00442007" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331391" "02477" "00442008" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331392" "02477" "00442009" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331393" "02477" "00442010" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331394" "02477" "00442011" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331395" "02477" "00442012" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331396" "02477" "00442013" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331397" "02477" "00442014" "04518" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MLC2A" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000331398" "02477" "00442015" "04518" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "megalencephalic leukoencephalopathy with subcortical cysts" "" "0000344310" "00198" "00455777" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MLC2B" "neurogenetic diseases" "" "0000354121" "00198" "00468968" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 68 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000136" "00000150" "1" "00014" "00008" "2012-07-09 16:44:40" "00006" "2019-10-27 12:50:02" "arraySNP" "DNA" "" "" "0000291451" "00290283" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000360111" "00358879" "1" "03566" "03566" "2021-03-17 07:11:15" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000443438" "00441953" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443439" "00441954" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443440" "00441955" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443441" "00441956" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443442" "00441957" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443443" "00441958" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443444" "00441959" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443445" "00441960" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443446" "00441961" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443447" "00441962" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443448" "00441963" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443449" "00441964" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443450" "00441965" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443451" "00441966" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443452" "00441967" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443453" "00441968" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443454" "00441969" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443455" "00441970" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443456" "00441971" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443457" "00441972" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443458" "00441973" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443459" "00441974" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443460" "00441975" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443461" "00441976" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443462" "00441977" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443463" "00441978" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443464" "00441979" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443465" "00441980" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443466" "00441981" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443467" "00441982" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443468" "00441983" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443469" "00441984" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443470" "00441985" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443471" "00441986" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443472" "00441987" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443473" "00441988" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443474" "00441989" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443475" "00441990" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443476" "00441991" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443477" "00441992" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443478" "00441993" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443479" "00441994" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443480" "00441995" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443481" "00441996" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443482" "00441997" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443483" "00441998" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443484" "00441999" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443485" "00442000" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443486" "00442001" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443487" "00442002" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443488" "00442003" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443489" "00442004" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443490" "00442005" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443491" "00442006" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443492" "00442007" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443493" "00442008" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443494" "00442009" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443495" "00442010" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443496" "00442011" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443497" "00442012" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443498" "00442013" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443499" "00442014" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000443500" "00442015" "1" "04518" "00006" "2023-10-31 16:41:00" "" "" "SEQ" "DNA" "" "" "0000457393" "00455777" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000470636" "00468968" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000000136" "HMGCL" "0000000136" "IL1B" "0000443438" "HEPACAM" "0000443439" "HEPACAM" "0000443440" "HEPACAM" "0000443441" "HEPACAM" "0000443442" "HEPACAM" "0000443443" "HEPACAM" "0000443444" "HEPACAM" "0000443445" "HEPACAM" "0000443446" "HEPACAM" "0000443447" "HEPACAM" "0000443448" "HEPACAM" "0000443449" "HEPACAM" "0000443450" "HEPACAM" "0000443451" "HEPACAM" "0000443452" "HEPACAM" "0000443453" "HEPACAM" "0000443454" "HEPACAM" "0000443455" "HEPACAM" "0000443456" "HEPACAM" "0000443457" "HEPACAM" "0000443458" "HEPACAM" "0000443459" "HEPACAM" "0000443460" "HEPACAM" "0000443461" "HEPACAM" "0000443462" "HEPACAM" "0000443463" "HEPACAM" "0000443464" "HEPACAM" "0000443465" "HEPACAM" "0000443466" "HEPACAM" "0000443467" "HEPACAM" "0000443468" "HEPACAM" "0000443469" "HEPACAM" "0000443470" "HEPACAM" "0000443471" "HEPACAM" "0000443472" "HEPACAM" "0000443473" "HEPACAM" "0000443474" "HEPACAM" "0000443475" "HEPACAM" "0000443476" "HEPACAM" "0000443477" "HEPACAM" "0000443478" "HEPACAM" "0000443479" "HEPACAM" "0000443480" "HEPACAM" "0000443481" "HEPACAM" "0000443482" "HEPACAM" "0000443483" "HEPACAM" "0000443484" "HEPACAM" "0000443485" "HEPACAM" "0000443486" "HEPACAM" "0000443487" "HEPACAM" "0000443488" "HEPACAM" "0000443489" "HEPACAM" "0000443490" "HEPACAM" "0000443491" "HEPACAM" "0000443492" "HEPACAM" "0000443493" "HEPACAM" "0000443494" "HEPACAM" "0000443495" "HEPACAM" "0000443496" "HEPACAM" "0000443497" "HEPACAM" "0000443498" "HEPACAM" "0000443499" "HEPACAM" "0000443500" "HEPACAM" ## 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 = 127 "{{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}}" "0000281274" "0" "10" "11" "124793682" "124793682" "subst" "0.721686" "02325" "HEPACAM_000003" "g.124793682T>C" "" "" "" "HEPACAM(NM_152722.5):c.652A>G (p.M218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124923786T>C" "" "benign" "" "0000322572" "0" "50" "11" "124791114" "124791114" "subst" "0" "01804" "HEPACAM_000001" "g.124791114C>A" "" "" "" "HEPACAM(NM_152722.4):c.1171G>T (p.(Ala391Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124921218C>A" "" "VUS" "" "0000542873" "0" "30" "11" "124791113" "124791124" "del" "0" "01804" "HEPACAM_000004" "g.124791113_124791124del" "" "" "" "HEPACAM(NM_152722.4):c.1169_1180del (p.(Ser390_Arg393del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124921217_124921228del" "" "likely benign" "" "0000542874" "0" "50" "11" "124791185" "124791185" "subst" "0" "01943" "HEPACAM_000005" "g.124791185C>T" "" "" "" "HEPACAM(NM_152722.4):c.1100G>A (p.R367H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124921289C>T" "" "VUS" "" "0000622587" "0" "50" "11" "124794912" "124794912" "subst" "0.000110674" "02325" "HEPACAM_000006" "g.124794912C>T" "" "" "" "HEPACAM(NM_152722.5):c.139G>A (p.V47M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124925016C>T" "" "VUS" "" "0000648140" "1" "30" "11" "124805984" "124805984" "subst" "0" "03575" "HEPACAM_000007" "g.124805984A>G" "41/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous, no homozygous; {DB:CLININrs6590110}" "Germline" "" "rs6590110" "0" "" "" "g.124936088A>G" "" "likely benign" "" "0000759810" "0" "90" "11" "124791338" "124791338" "subst" "0" "03566" "HEPACAM_000008" "g.124791338T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124921442T>C" "" "pathogenic" "" "0000804972" "0" "30" "11" "124793632" "124793632" "subst" "0.000113847" "01943" "HEPACAM_000009" "g.124793632G>A" "" "" "" "HEPACAM(NM_152722.4):c.702C>T (p.T234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804973" "0" "30" "11" "124793671" "124793671" "subst" "0.000345318" "01943" "HEPACAM_000010" "g.124793671G>A" "" "" "" "HEPACAM(NM_152722.4):c.663C>T (p.N221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852797" "0" "50" "11" "124791087" "124791087" "subst" "0.0001911" "02325" "HEPACAM_000011" "g.124791087C>T" "" "" "" "HEPACAM(NM_152722.5):c.1198G>A (p.V400M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862348" "0" "50" "11" "124793299" "124793299" "subst" "0.000113769" "02325" "HEPACAM_000012" "g.124793299G>A" "" "" "" "HEPACAM(NM_152722.5):c.740C>T (p.T247I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913525" "0" "50" "11" "124791119" "124791119" "subst" "0.00012682" "02325" "HEPACAM_000013" "g.124791119C>T" "" "" "" "HEPACAM(NM_152722.5):c.1166G>A (p.R389H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913526" "0" "50" "11" "124791203" "124791203" "subst" "0" "02325" "HEPACAM_000014" "g.124791203T>G" "" "" "" "HEPACAM(NM_152722.5):c.1082A>C (p.Y361S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944888" "0" "50" "11" "124805835" "124805835" "subst" "0" "04518" "HEPACAM_000043" "g.124805835A>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124935939A>T" "" "VUS" "" "0000944889" "0" "50" "11" "124794923" "124794923" "subst" "4.52917E-5" "04518" "HEPACAM_000042" "g.124794923A>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124925027A>T" "" "VUS" "" "0000944890" "0" "90" "11" "124794875" "124794875" "subst" "0" "04518" "HEPACAM_000041" "g.124794875C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924979C>T" "" "pathogenic" "" "0000944891" "0" "90" "11" "124794848" "124794848" "subst" "0" "04518" "HEPACAM_000040" "g.124794848T>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924952T>A" "" "pathogenic" "" "0000944892" "0" "50" "11" "124794847" "124794847" "subst" "0" "04518" "HEPACAM_000039" "g.124794847C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924951C>G" "" "VUS" "" "0000944893" "0" "90" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924890C>T" "" "pathogenic" "" "0000944894" "0" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000038" "g.124794786C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924890C>G" "" "likely pathogenic" "" "0000944895" "0" "90" "11" "124794785" "124794785" "subst" "0" "04518" "HEPACAM_000036" "g.124794785C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924889C>T" "" "pathogenic" "" "0000944896" "0" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944897" "0" "90" "11" "124794776" "124794776" "subst" "0" "04518" "HEPACAM_000033" "g.124794776C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924880C>T" "" "pathogenic" "" "0000944898" "0" "70" "11" "124794776" "124794776" "subst" "0" "04518" "HEPACAM_000034" "g.124794776C>G" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924880C>G" "" "likely pathogenic" "" "0000944899" "0" "90" "11" "124794759" "124794759" "subst" "0" "04518" "HEPACAM_000032" "g.124794759G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924863G>A" "" "pathogenic" "" "0000944900" "0" "90" "11" "124794758" "124794758" "subst" "0" "04518" "HEPACAM_000031" "g.124794758C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924862C>T" "" "pathogenic" "" "0000944901" "0" "90" "11" "124794753" "124794753" "subst" "0" "04518" "HEPACAM_000030" "g.124794753G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924857G>A" "" "pathogenic" "" "0000944902" "0" "90" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924773C>T" "" "pathogenic" "" "0000944903" "0" "90" "11" "124794656" "124794656" "subst" "0" "04518" "HEPACAM_000028" "g.124794656G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924760G>T" "" "pathogenic" "" "0000944904" "0" "50" "11" "124794654" "124794654" "subst" "0" "04518" "HEPACAM_000027" "g.124794654C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924758C>T" "" "VUS" "" "0000944905" "0" "90" "11" "124794648" "124794650" "del" "0" "04518" "HEPACAM_000026" "g.124794648_124794650del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924752_124924754del" "" "pathogenic" "" "0000944906" "0" "30" "11" "124794549" "124794581" "del" "0" "04518" "HEPACAM_000025" "g.124794549_124794581del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124924653_124924685del" "" "likely benign" "" "0000944907" "0" "90" "11" "124793892" "124793892" "subst" "0" "04518" "HEPACAM_000024" "g.124793892G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923996G>A" "" "pathogenic" "" "0000944908" "0" "90" "11" "124793872" "124793873" "del" "0" "04518" "HEPACAM_000023" "g.124793872_124793873del" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923976_124923977del" "" "pathogenic" "" "0000944909" "0" "70" "11" "124793752" "124793754" "delins" "0" "04518" "HEPACAM_000022" "g.124793752_124793754delinsAA" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923856_124923858delinsAA" "" "likely pathogenic" "" "0000944910" "0" "90" "11" "124793747" "124793747" "subst" "4.06253E-6" "04518" "HEPACAM_000021" "g.124793747G>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923851G>T" "" "pathogenic" "" "0000944911" "0" "90" "11" "124793703" "124793703" "subst" "0" "04518" "HEPACAM_000020" "g.124793703C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923807C>T" "" "pathogenic" "" "0000944912" "0" "70" "11" "124793331" "124793331" "subst" "0" "04518" "HEPACAM_000019" "g.124793331T>C" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923435T>C" "" "likely pathogenic" "" "0000944913" "0" "90" "11" "124793297" "124793297" "subst" "0" "04518" "HEPACAM_000018" "g.124793297C>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923401C>A" "" "pathogenic" "" "0000944914" "0" "90" "11" "124793250" "124793250" "subst" "0" "04518" "HEPACAM_000017" "g.124793250C>T" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124923354C>T" "" "pathogenic" "" "0000944915" "0" "50" "11" "124792656" "124792656" "subst" "0.000458853" "04518" "HEPACAM_000016" "g.124792656G>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124922760G>A" "" "VUS" "" "0000944916" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000944917" "10" "70" "11" "124793747" "124793747" "subst" "4.06253E-6" "04518" "HEPACAM_000021" "g.124793747G>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923851G>T" "" "likely pathogenic (recessive)" "" "0000944918" "10" "70" "11" "124793747" "124793747" "subst" "4.06253E-6" "04518" "HEPACAM_000021" "g.124793747G>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923851G>T" "" "likely pathogenic (recessive)" "" "0000944919" "3" "70" "11" "124793892" "124793892" "subst" "0" "04518" "HEPACAM_000024" "g.124793892G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923996G>A" "" "likely pathogenic (recessive)" "" "0000944920" "3" "70" "11" "124793752" "124793754" "delins" "0" "04518" "HEPACAM_000022" "g.124793752_124793754delinsAA" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "580delC, 582C>T" "" "Germline" "" "" "0" "" "" "g.124923856_124923858delinsAA" "" "likely pathogenic (recessive)" "" "0000944921" "11" "70" "11" "124794776" "124794776" "subst" "0" "04518" "HEPACAM_000033" "g.124794776C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924880C>T" "" "likely pathogenic (recessive)" "" "0000944922" "3" "70" "11" "124794759" "124794759" "subst" "0" "04518" "HEPACAM_000032" "g.124794759G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924863G>A" "" "likely pathogenic (recessive)" "" "0000944923" "3" "70" "11" "124794759" "124794759" "subst" "0" "04518" "HEPACAM_000032" "g.124794759G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924863G>A" "" "likely pathogenic (recessive)" "" "0000944924" "3" "70" "11" "124793892" "124793892" "subst" "0" "04518" "HEPACAM_000024" "g.124793892G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923996G>A" "" "likely pathogenic (recessive)" "" "0000944925" "3" "70" "11" "124794759" "124794759" "subst" "0" "04518" "HEPACAM_000032" "g.124794759G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924863G>A" "" "likely pathogenic (recessive)" "" "0000944926" "0" "70" "11" "124805835" "124805835" "subst" "0" "04518" "HEPACAM_000043" "g.124805835A>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "De novo" "" "" "0" "" "" "g.124935939A>T" "" "likely pathogenic (recessive)" "" "0000944927" "21" "70" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "likely pathogenic (dominant)" "" "0000944928" "0" "70" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "likely pathogenic (dominant)" "" "0000944929" "11" "70" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924773C>T" "" "likely pathogenic (dominant)" "" "0000944930" "0" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "De novo" "" "" "0" "" "" "g.124924890C>T" "" "likely pathogenic (dominant)" "" "0000944931" "21" "70" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "likely pathogenic (dominant)" "" "0000944932" "21" "70" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "likely pathogenic (dominant)" "" "0000944933" "11" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>T" "" "likely pathogenic (dominant)" "" "0000944934" "11" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>T" "" "likely pathogenic (dominant)" "" "0000944935" "11" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>T" "" "likely pathogenic (dominant)" "" "0000944936" "0" "70" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924773C>T" "" "likely pathogenic (dominant)" "" "0000944937" "11" "70" "11" "124794648" "124794650" "del" "0" "04518" "HEPACAM_000026" "g.124794648_124794650del" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924752_124924754del" "" "likely pathogenic (dominant)" "" "0000944938" "11" "70" "11" "124794785" "124794785" "subst" "0" "04518" "HEPACAM_000036" "g.124794785C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924889C>T" "" "likely pathogenic (dominant)" "" "0000944939" "21" "70" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "likely pathogenic (dominant)" "" "0000944940" "11" "70" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924773C>T" "" "likely pathogenic (dominant)" "" "0000944941" "21" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>T" "" "likely pathogenic (dominant)" "" "0000944942" "0" "70" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "De novo" "" "" "0" "" "" "g.124924773C>T" "" "likely pathogenic (dominant)" "" "0000944943" "21" "70" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124924773C>T" "" "likely pathogenic (dominant)" "" "0000944944" "0" "70" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "De novo" "" "" "0" "" "" "g.124924881G>A" "" "likely pathogenic (dominant)" "" "0000944945" "21" "70" "11" "124793250" "124793250" "subst" "0" "04518" "HEPACAM_000017" "g.124793250C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923354C>T" "" "likely pathogenic (recessive)" "" "0000944946" "21" "70" "11" "124793250" "124793250" "subst" "0" "04518" "HEPACAM_000017" "g.124793250C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923354C>T" "" "likely pathogenic (recessive)" "" "0000944947" "21" "70" "11" "124793703" "124793703" "subst" "0" "04518" "HEPACAM_000020" "g.124793703C>T" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923807C>T" "" "likely pathogenic (recessive)" "" "0000944948" "11" "70" "11" "124793872" "124793873" "del" "0" "04518" "HEPACAM_000023" "g.124793872_124793873del" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124923976_124923977del" "" "likely pathogenic (recessive)" "" "0000944949" "11" "70" "11" "124793297" "124793297" "subst" "0" "04518" "HEPACAM_000018" "g.124793297C>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "variant not translated" "Germline" "" "" "0" "" "" "g.124923401C>A" "" "likely pathogenic" "" "0000944950" "11" "50" "11" "124792656" "124792656" "subst" "0.000458853" "04518" "HEPACAM_000016" "g.124792656G>A" "" "{PMID:Lopez-Hernandez 2011:21419380}" "" "" "" "Germline" "" "" "0" "" "" "g.124922760G>A" "" "VUS" "" "0000944951" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000944952" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000944953" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000944954" "0" "30" "11" "124794549" "124794581" "del" "0" "04518" "HEPACAM_000025" "g.124794549_124794581del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924653_124924685del" "" "likely benign" "" "0000944955" "21" "90" "11" "124794848" "124794848" "subst" "0" "04518" "HEPACAM_000040" "g.124794848T>A" "" "{PMID:Shi 2019:31372844}" "" "" "" "Germline" "" "" "0" "" "" "g.124924952T>A" "" "pathogenic (recessive)" "" "0000944956" "21" "70" "11" "124794776" "124794776" "subst" "0" "04518" "HEPACAM_000034" "g.124794776C>G" "" "{PMID:Shi 2019:31372844}" "" "" "" "Germline" "" "" "0" "" "" "g.124924880C>G" "" "likely pathogenic" "" "0000944957" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Shi 2019:31372844}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944958" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Shi 2019:31372844}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944959" "0" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Shi 2019:31372844}" "" "" "" "De novo" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944960" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Shi 2019:31372844}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944961" "3" "70" "11" "124794758" "124794758" "subst" "0" "04518" "HEPACAM_000031" "g.124794758C>T" "" "{PMID:Abdel-Salam 2016:27389245}" "" "" "" "Germline" "" "" "0" "" "" "g.124924862C>T" "" "likely pathogenic (recessive)" "" "0000944962" "3" "70" "11" "124794758" "124794758" "subst" "0" "04518" "HEPACAM_000031" "g.124794758C>T" "" "{PMID:Abdel-Salam 2016:27389245}" "" "" "" "Germline" "" "" "0" "" "" "g.124924862C>T" "" "likely pathogenic (recessive)" "" "0000944963" "21" "90" "11" "124794848" "124794848" "subst" "0" "04518" "HEPACAM_000040" "g.124794848T>A" "" "{PMID:Cao 2016:27322623}" "" "" "" "Germline" "" "" "0" "" "" "g.124924952T>A" "" "pathogenic (recessive)" "" "0000944964" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Cao 2016:27322623}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944965" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Cao 2016:27322623}" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944966" "0" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "{PMID:Cao 2016:27322623}" "" "" "" "De novo" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944967" "3" "90" "11" "124794753" "124794753" "subst" "0" "04518" "HEPACAM_000030" "g.124794753G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924857G>A" "" "pathogenic (recessive)" "" "0000944968" "0" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944969" "3" "90" "11" "124794759" "124794759" "subst" "0" "04518" "HEPACAM_000032" "g.124794759G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924863G>A" "" "pathogenic (recessive)" "" "0000944970" "11" "90" "11" "124794875" "124794875" "subst" "0" "04518" "HEPACAM_000041" "g.124794875C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924979C>T" "" "pathogenic" "" "0000944971" "0" "90" "11" "124794875" "124794875" "subst" "0" "04518" "HEPACAM_000041" "g.124794875C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924979C>T" "" "pathogenic" "" "0000944972" "0" "50" "11" "124794923" "124794923" "subst" "4.52917E-5" "04518" "HEPACAM_000042" "g.124794923A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124925027A>T" "" "VUS" "" "0000944973" "0" "90" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924773C>T" "" "pathogenic" "" "0000944974" "11" "90" "11" "124794776" "124794776" "subst" "0" "04518" "HEPACAM_000033" "g.124794776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924880C>T" "" "pathogenic" "" "0000944975" "11" "90" "11" "124794776" "124794776" "subst" "0" "04518" "HEPACAM_000033" "g.124794776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924880C>T" "" "pathogenic" "" "0000944976" "21" "50" "11" "124794654" "124794654" "subst" "0" "04518" "HEPACAM_000027" "g.124794654C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924758C>T" "" "VUS" "" "0000944977" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944978" "11" "90" "11" "124794669" "124794669" "subst" "0" "04518" "HEPACAM_000029" "g.124794669C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924773C>T" "" "pathogenic" "" "0000944979" "11" "90" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>T" "" "pathogenic" "" "0000944980" "21" "50" "11" "124794654" "124794654" "subst" "0" "04518" "HEPACAM_000027" "g.124794654C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924758C>T" "" "VUS" "" "0000944981" "3" "90" "11" "124793892" "124793892" "subst" "0" "04518" "HEPACAM_000024" "g.124793892G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124923996G>A" "" "pathogenic (recessive)" "" "0000944982" "0" "90" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.124924890C>T" "" "pathogenic" "" "0000944983" "3" "90" "11" "124793892" "124793892" "subst" "0" "04518" "HEPACAM_000024" "g.124793892G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124923996G>A" "" "pathogenic (recessive)" "" "0000944984" "0" "50" "11" "124794654" "124794654" "subst" "0" "04518" "HEPACAM_000027" "g.124794654C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924758C>T" "" "VUS" "" "0000944985" "11" "70" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000038" "g.124794786C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>G" "" "likely pathogenic" "" "0000944986" "3" "50" "11" "124794847" "124794847" "subst" "0" "04518" "HEPACAM_000039" "g.124794847C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924951C>G" "" "VUS" "" "0000944987" "21" "90" "11" "124794777" "124794777" "subst" "0" "04518" "HEPACAM_000035" "g.124794777G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924881G>A" "" "pathogenic" "" "0000944988" "3" "90" "11" "124793892" "124793892" "subst" "0" "04518" "HEPACAM_000024" "g.124793892G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124923996G>A" "" "pathogenic (recessive)" "" "0000944989" "0" "90" "11" "124794786" "124794786" "subst" "0" "04518" "HEPACAM_000037" "g.124794786C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124924890C>T" "" "pathogenic" "" "0000944990" "11" "90" "11" "124794656" "124794656" "subst" "0" "04518" "HEPACAM_000028" "g.124794656G>T" "" "{PMID:Shi 2019:31372844}" "" "" "" "Germline" "" "" "0" "" "" "g.124924760G>T" "" "pathogenic (recessive)" "" "0000944991" "11" "90" "11" "124794656" "124794656" "subst" "0" "04518" "HEPACAM_000028" "g.124794656G>T" "" "{PMID:Cao 2016:27322623}" "" "" "" "Germline" "" "" "0" "" "" "g.124924760G>T" "" "pathogenic (recessive)" "" "0000944992" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000944993" "21" "70" "11" "124793331" "124793331" "subst" "0" "04518" "HEPACAM_000019" "g.124793331T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124923435T>C" "" "likely pathogenic (recessive)" "" "0000944994" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000944995" "0" "10" "11" "124792540" "124792540" "subst" "0.061294" "04518" "HEPACAM_000015" "g.124792540C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.124922644C>A" "" "benign" "" "0000998836" "0" "50" "11" "124791189" "124791200" "dup" "0" "01804" "HEPACAM_000044" "g.124791189_124791200dup" "" "" "" "HEPACAM(NM_152722.4):c.1098_1109dupGCGCTCCCCAGC (p.(Ala370_Thr371insArgSerProAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998837" "0" "30" "11" "124793762" "124793762" "subst" "1.21948E-5" "01804" "HEPACAM_000045" "g.124793762G>A" "" "" "" "HEPACAM(NM_152722.4):c.572C>T (p.(Ser191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998838" "0" "30" "11" "124793850" "124793850" "subst" "3.68916E-5" "01804" "HEPACAM_000046" "g.124793850C>T" "" "" "" "HEPACAM(NM_152722.4):c.484G>A (p.(Glu162Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011896" "0" "90" "11" "124794692" "124794692" "subst" "0" "00006" "HEPACAM_000047" "g.124794692T>C" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.124924796T>C" "VCV000590970.1" "pathogenic" "" "0001054177" "0" "50" "11" "124793715" "124793715" "subst" "2.03075E-5" "01804" "HEPACAM_000048" "g.124793715C>T" "" "" "" "HEPACAM(NM_152722.5):c.619G>A (p.(Val207Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058758" "0" "90" "11" "124791113" "124791124" "del" "0" "00006" "HEPACAM_000004" "g.124791113_124791124del" "" "{PMID:Retterer 2016:26633542}" "" "1169_1180del12" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.124921217_124921228del" "" "pathogenic" "" ## 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 HEPACAM ## Count = 127 "{{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}}" "0000281274" "00009260" "10" "652" "0" "652" "0" "c.652A>G" "r.(?)" "p.(Met218Val)" "" "0000322572" "00009260" "50" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Ala391Ser)" "" "0000542873" "00009260" "30" "1169" "0" "1180" "0" "c.1169_1180del" "r.(?)" "p.(Ser390_Arg393del)" "" "0000542874" "00009260" "50" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Arg367His)" "" "0000622587" "00009260" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Val47Met)" "" "0000648140" "00009260" "30" "-82" "0" "-82" "0" "c.-82T>C" "r.(=)" "p.(=)" "" "0000759810" "00009260" "90" "949" "-2" "949" "-2" "c.949-2A>G" "r.spl" "p.?" "" "0000804972" "00009260" "30" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Thr234=)" "" "0000804973" "00009260" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Asn221=)" "" "0000852797" "00009260" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Val400Met)" "" "0000862348" "00009260" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Ile)" "" "0000913525" "00009260" "50" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389His)" "" "0000913526" "00009260" "50" "1082" "0" "1082" "0" "c.1082A>C" "r.(?)" "p.(Tyr361Ser)" "" "0000944888" "00009260" "50" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Leu23His)" "" "0000944889" "00009260" "50" "128" "0" "128" "0" "c.128T>A" "r.(?)" "p.(Ile43Asn)" "" "0000944890" "00009260" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Ser59Asn)" "" "0000944891" "00009260" "90" "203" "0" "203" "0" "c.203A>T" "r.(?)" "p.(Lys68Met)" "" "0000944892" "00009260" "50" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Lys68Asn)" "" "0000944893" "00009260" "90" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000944894" "00009260" "70" "265" "0" "265" "0" "c.265G>C" "r.(?)" "p.(Gly89Arg)" "" "0000944895" "00009260" "90" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "" "0000944896" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944897" "00009260" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000944898" "00009260" "70" "275" "0" "275" "0" "c.275G>C" "r.(?)" "p.(Arg92Pro)" "" "0000944899" "00009260" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Cys)" "" "0000944900" "00009260" "90" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98His)" "" "0000944901" "00009260" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100Ter)" "" "0000944902" "00009260" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000944903" "00009260" "90" "395" "0" "395" "0" "c.395C>A" "r.(?)" "p.(Thr132Asn)" "" "0000944904" "00009260" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Arg)" "" "0000944905" "00009260" "90" "404" "0" "406" "0" "c.404_406del" "r.(?)" "p.(Lys135del)" "" "0000944906" "00009260" "30" "427" "47" "427" "79" "c.427+47_427+79del" "r.(?)" "p.(=)" "" "0000944907" "00009260" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "" "0000944908" "00009260" "90" "461" "0" "462" "0" "c.461_462del" "r.(?)" "p.(Ser154TyrfsTer17)" "" "0000944909" "00009260" "70" "580" "0" "582" "0" "c.580_582delinsTT" "r.(?)" "p.(Leu194PhefsTer61)" "" "0000944910" "00009260" "90" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Ser196Tyr)" "" "0000944911" "00009260" "90" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Asp211Asn)" "" "0000944912" "00009260" "70" "710" "-2" "710" "-2" "c.710-2A>G" "r.spl" "p.?" "" "0000944913" "00009260" "90" "742" "0" "742" "0" "c.742G>T" "r.(?)" "p.(Gly248Ter)" "" "0000944914" "00009260" "90" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Trp263Ter)" "" "0000944915" "00009260" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Cys)" "" "0000944916" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "" "0000944917" "00009260" "70" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Ser196Tyr)" "" "0000944918" "00009260" "70" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Ser196Tyr)" "" "0000944919" "00009260" "70" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "" "0000944920" "00009260" "70" "580" "0" "582" "0" "c.580_582delinsTT" "r.(?)" "p.(Leu194PhefsTer61)" "" "0000944921" "00009260" "70" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000944922" "00009260" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Cys)" "" "0000944923" "00009260" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Cys)" "" "0000944924" "00009260" "70" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "" "0000944925" "00009260" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Cys)" "" "0000944926" "00009260" "70" "68" "0" "68" "0" "c.68T>A" "r.(?)" "p.(Leu23His)" "" "0000944927" "00009260" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944928" "00009260" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944929" "00009260" "70" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000944930" "00009260" "70" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000944931" "00009260" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944932" "00009260" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944933" "00009260" "70" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000944934" "00009260" "70" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000944935" "00009260" "70" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000944936" "00009260" "70" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000944937" "00009260" "70" "404" "0" "406" "0" "c.404_406del" "r.(?)" "p.(Lys135del)" "" "0000944938" "00009260" "70" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "" "0000944939" "00009260" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944940" "00009260" "70" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000944941" "00009260" "70" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000944942" "00009260" "70" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000944943" "00009260" "70" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "" "0000944944" "00009260" "70" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "" "0000944945" "00009260" "70" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Trp263Ter)" "" "0000944946" "00009260" "70" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Trp263Ter)" "" "0000944947" "00009260" "70" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Asp211Asn)" "" "0000944948" "00009260" "70" "461" "0" "462" "0" "c.461_462del" "r.(?)" "p.(Ser154TyrfsTer17)" "" "0000944949" "00009260" "70" "742" "0" "742" "0" "c.742G>T" "r.(?)" "-" "" "0000944950" "00009260" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Cys)" "" "0000944951" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "" "0000944952" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "" "0000944953" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "" "0000944954" "00009260" "30" "427" "47" "427" "79" "c.427+47_427+79del" "r.(?)" "p.(=)" "" "0000944955" "00009260" "90" "203" "0" "203" "0" "c.203A>T" "r.(?)" "p.(Lys68Met)" "2" "0000944956" "00009260" "70" "275" "0" "275" "0" "c.275G>C" "r.(?)" "p.(Arg92Pro)" "2" "0000944957" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944958" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944959" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944960" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944961" "00009260" "70" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98His)" "2" "0000944962" "00009260" "70" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98His)" "2" "0000944963" "00009260" "90" "203" "0" "203" "0" "c.203A>T" "r.(?)" "p.(Lys68Met)" "2" "0000944964" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944965" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944966" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944967" "00009260" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100*)" "2" "0000944968" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944969" "00009260" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Cys)" "2" "0000944970" "00009260" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Ser59Asn)" "2" "0000944971" "00009260" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Ser59Asn)" "2" "0000944972" "00009260" "50" "128" "0" "128" "0" "c.128T>A" "r.(?)" "p.(Ile43Asn)" "2" "0000944973" "00009260" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "2" "0000944974" "00009260" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "2" "0000944975" "00009260" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "2" "0000944976" "00009260" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Arg)" "2" "0000944977" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944978" "00009260" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "2" "0000944979" "00009260" "90" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "2" "0000944980" "00009260" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Arg)" "2" "0000944981" "00009260" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "3" "0000944982" "00009260" "90" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "2" "0000944983" "00009260" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "3" "0000944984" "00009260" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Arg)" "2" "0000944985" "00009260" "70" "265" "0" "265" "0" "c.265G>C" "r.(?)" "p.(Gly89Arg)" "2" "0000944986" "00009260" "50" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Lys68Asn)" "2" "0000944987" "00009260" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000944988" "00009260" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "3" "0000944989" "00009260" "90" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "2" "0000944990" "00009260" "90" "395" "0" "395" "0" "c.395C>A" "r.(?)" "p.(Thr132Asn)" "2" "0000944991" "00009260" "90" "395" "0" "395" "0" "c.395C>A" "r.(?)" "p.(Thr132Asn)" "2" "0000944992" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "5" "0000944993" "00009260" "70" "710" "-2" "710" "-2" "c.710-2A>G" "r.spl" "p.?" "4" "0000944994" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "5" "0000944995" "00009260" "10" "877" "101" "877" "101" "c.877+101G>T" "r.(?)" "p.(=)" "5" "0000998836" "00009260" "50" "1098" "0" "1109" "0" "c.1098_1109dup" "r.(?)" "p.(Arg367_Ala370dup)" "" "0000998837" "00009260" "30" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ser191Leu)" "" "0000998838" "00009260" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Glu162Lys)" "" "0001011896" "00009260" "90" "359" "0" "359" "0" "c.359A>G" "r.(?)" "p.(Tyr120Cys)" "" "0001054177" "00009260" "50" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Val207Met)" "" "0001058758" "00009260" "90" "1169" "0" "1180" "0" "c.1169_1180del" "r.(?)" "p.(Ser390_Arg393del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 83 "{{screeningid}}" "{{variantid}}" "0000000136" "0000944995" "0000291451" "0000648140" "0000360111" "0000759810" "0000443438" "0000944917" "0000443438" "0000944945" "0000443439" "0000944918" "0000443439" "0000944946" "0000443440" "0000944919" "0000443441" "0000944920" "0000443442" "0000944921" "0000443442" "0000944947" "0000443443" "0000944922" "0000443444" "0000944923" "0000443445" "0000944924" "0000443446" "0000944925" "0000443447" "0000944926" "0000443447" "0000944948" "0000443447" "0000944949" "0000443447" "0000944952" "0000443448" "0000944927" "0000443449" "0000944928" "0000443450" "0000944929" "0000443450" "0000944953" "0000443451" "0000944930" "0000443452" "0000944931" "0000443453" "0000944932" "0000443454" "0000944933" "0000443455" "0000944934" "0000443456" "0000944935" "0000443457" "0000944936" "0000443458" "0000944937" "0000443459" "0000944938" "0000443460" "0000944939" "0000443461" "0000944940" "0000443461" "0000944950" "0000443461" "0000944951" "0000443462" "0000944941" "0000443463" "0000944942" "0000443464" "0000944943" "0000443465" "0000944944" "0000443465" "0000944954" "0000443466" "0000944955" "0000443466" "0000944990" "0000443467" "0000944956" "0000443468" "0000944957" "0000443469" "0000944958" "0000443470" "0000944959" "0000443471" "0000944960" "0000443472" "0000944961" "0000443473" "0000944962" "0000443474" "0000944963" "0000443474" "0000944991" "0000443475" "0000944964" "0000443476" "0000944965" "0000443477" "0000944966" "0000443478" "0000944967" "0000443479" "0000944968" "0000443479" "0000944992" "0000443480" "0000944969" "0000443481" "0000944970" "0000443482" "0000944971" "0000443483" "0000944972" "0000443483" "0000944993" "0000443484" "0000944973" "0000443485" "0000944974" "0000443485" "0000944994" "0000443486" "0000944975" "0000443487" "0000944976" "0000443488" "0000944977" "0000443489" "0000944978" "0000443490" "0000944979" "0000443491" "0000944980" "0000443492" "0000944981" "0000443493" "0000944982" "0000443494" "0000944983" "0000443495" "0000944984" "0000443496" "0000944985" "0000443497" "0000944986" "0000443498" "0000944987" "0000443499" "0000944988" "0000443500" "0000944989" "0000457393" "0001011896" "0000470636" "0001058758"