### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAM2) # 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}}" "JAM2" "junctional adhesion molecule 2" "21" "q21.2" "unknown" "NC_000021.8" "UD_136079999296" "" "https://www.LOVD.nl/JAM2" "" "1" "14686" "58494" "606870" "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/JAM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-02-11 19:59:16" "00000" "2024-04-19 20:27:30" ## 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}}" "00010257" "JAM2" "transcript variant 3" "004" "NM_001270408.1" "" "NP_001257337.1" "" "" "" "-540" "1207" "939" "27011594" "27086885" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03677" "IBGC" "calcification, basal ganglia, idiopathic (IBGC)" "" "614540" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-11 08:59:45" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" "05693" "brain calcification" "calcification, brain" "" "" "" "" "" "00006" "2020-02-11 20:36:37" "" "" "06531" "IBGC8" "Basal ganglia calcification, idiopathic, 8, autosomal recessive" "AR" "618824" "" "onset adulthood; no microcephaly; no cataracts; no facial dysmorphisms; developmental delay; rare seizures; spasticity; no hypotonia; intracranial calcifications; no intracranial hemorrhage; no ventriculomegaly; no corpus callosum anomalies; no hepatomegaly; no renal anomalies" "" "00006" "2021-12-10 23:20:41" "00006" "2023-03-31 19:39:23" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "JAM2" "05693" "JAM2" "06531" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00286201" "" "" "" "1" "" "03588" "" "" "M" "yes" "United Kingdom (Great Britain)" "20y-30y" "0" "" "" "Gypsy" "" "00286202" "" "" "" "1" "" "03588" "" "" "" "" "" "" "0" "" "" "" "" "00286204" "" "" "" "4" "" "03588" "" "" "F;M" "yes" "Northern Ireland" "40y-50y" "0" "" "" "Gypsy" "" "00286250" "" "" "" "1" "" "03588" "" "" "" "" "" "" "0" "" "" "" "" "00287082" "" "" "" "2" "" "00006" "{PMID:Cen 2020:31851307}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents (first cousins)" "M" "yes" "China" "" "0" "" "" "" "Fam1PatII2" "00287083" "" "" "00287082" "1" "" "00006" "{PMID:Cen 2020:31851307}" "sister" "F" "yes" "China" "" "0" "" "" "" "Fam1PatII3" "00287084" "" "" "" "1" "" "00006" "{PMID:Cen 2020:31851307}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousins)" "F" "yes" "China" "" "0" "" "" "" "Fam2PatII2" "00287085" "" "" "" "1" "" "00006" "{PMID:Cen 2020:31851307}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Fam3PatII1" "00289372" "" "" "" "1" "" "00006" "{PMID:Schottlaender 2020:32142645}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "England" "" "0" "" "" "" "Fam1PatII2" "00289373" "" "" "" "4" "" "00006" "{PMID:Schottlaender 2020:32142645}" "3-generation family, 4 affected, (F, 3M) unaffected heterozygous carrier parents" "M" "yes" "Northern Ireland" "" "0" "" "" "" "Fam2PatIII2" "00289374" "" "" "00289373" "1" "" "00006" "{PMID:Schottlaender 2020:32142645}" "" "F" "yes" "Northern Ireland" "" "0" "" "" "" "Fam2PatIII3" "00289375" "" "" "00289373" "1" "" "00006" "{PMID:Schottlaender 2020:32142645}" "" "M" "yes" "Northern Ireland" "" "0" "" "" "" "Fam2PatIII4" "00289377" "" "" "" "1" "" "00006" "{PMID:Schottlaender 2020:32142645}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "Fam3PatII1" "00289378" "" "" "" "1" "" "00006" "{PMID:Schottlaender 2020:32142645}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam4PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00286201" "03677" "00286202" "03677" "00286204" "03677" "00286250" "03677" "00287082" "05613" "00287083" "05613" "00287084" "05613" "00287085" "05613" "00289372" "05693" "00289373" "05693" "00289374" "05693" "00289375" "05693" "00289377" "05693" "00289378" "05693" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03677, 05613, 05693, 06531 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000220058" "03677" "00286201" "03588" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000220060" "03677" "00286204" "03588" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000220061" "03677" "00286202" "03588" "Familial, autosomal recessive" "10y-20y" "" "" "" "" "" "" "" "" "" "" "0000220107" "03677" "00286250" "03588" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000220819" "05613" "00287082" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain" "20y" "" "" "" "" "" "" "" "brain calcification" "0000220820" "05613" "00287083" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., Parkinsonism, slurred speech, seizures; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain, pons, medulla" "23y" "" "" "" "" "" "" "" "brain calcification" "0000220821" "05613" "00287084" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., numbness feet, dizziness (syncope); calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter" "37y" "" "" "" "" "" "" "" "brain calcification" "0000220822" "05613" "00287085" "00006" "Familial, autosomal recessive" "50y" "see paper; ..., Parkinsonism, slurred speech; calcification basal ganglia, thalamus, dentate nuclei, cortex, subcortical white matter, midbrain" "38y" "" "" "" "" "" "" "" "brain calcification" "0000222985" "05693" "00289372" "00006" "Familial, autosomal recessive" "24y" "normal birth and early milestones; onset childhood, cerebellar ataxia, cognitive decline; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria, nystagmus); Parkinsonism rigidity, bradykinesia.; dystonia generalized; seizures, ophthalmoplegia, PEG inserted in advance stage; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter" "" "" "" "" "" "" "" "" "brain calcification" "0000222986" "05693" "00289373" "00006" "Familial, autosomal recessive" "41y" "normal birth and early milestones; onset late 20s, cognitive decline, depression; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; PEG inserted in advance stage; memory decline with severe impaired recall; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter" "" "" "" "" "" "" "" "" "brain calcification" "0000222987" "05693" "00289374" "00006" "Familial, autosomal recessive" "39y" "normal birth and early milestones; onset late 30s, difficulty walking; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; became anarthric in advanced stage; unable to comment on cognition due to anarthria; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter" "" "" "" "" "" "" "" "" "brain calcification" "0000222988" "05693" "00289375" "00006" "Familial, autosomal recessive" "40y" "normal birth and early milestones; onset teenage, depression, dysarthria; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria); Parkinsonism rigidity, bradykinesia; no dystonia; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter" "" "" "" "" "" "" "" "" "brain calcification" "0000222990" "05693" "00289377" "00006" "Familial, autosomal recessive" "15y" "normal birth and early milestones; onset childhood, autism spectrum disorder; no pyramidal syndrome; cerebellar syndrome (upper and lower limb mild ataxia, nystagmus; no Parkinsonism ; no dystonia; autism spectrum disorder; decline in academic performance; MRI brain basal ganglia, and frontal cortex" "" "" "" "" "" "" "" "" "brain calcification" "0000222991" "05693" "00289378" "00006" "Familial, autosomal recessive" "7y" "normal birth and early milestones; onset early childhood, seizures; no pyramidal syndrome; no cerebellar syndrome; no Parkinsonism ; no dystonia; normal cognitive function; MRI brain basal ganglia, dentate nucleus and cerebellar hemispheres" "" "" "" "" "" "" "" "" "brain calcification" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000287363" "00286201" "1" "03588" "03588" "2020-02-10 14:21:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000287367" "00286204" "1" "03588" "03588" "2020-02-10 14:45:41" "" "" "SEQ;SEQ-NG" "RNA" "" "" "0000287368" "00286202" "1" "03588" "03588" "2020-02-10 15:00:07" "" "" "SEQ;SEQ-NG" "RNA" "" "" "0000287414" "00286250" "1" "03588" "03588" "2020-02-10 15:14:24" "" "" "SEQ-NG" "RNA" "" "" "0000288246" "00287082" "1" "00006" "00006" "2020-02-11 21:02:04" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000288247" "00287083" "1" "00006" "00006" "2020-02-11 21:02:04" "" "" "SEQ" "DNA" "" "" "0000288248" "00287084" "1" "00006" "00006" "2020-02-11 21:02:04" "" "" "SEQ" "DNA" "" "" "0000288249" "00287085" "1" "00006" "00006" "2020-02-11 21:02:04" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000290543" "00289372" "1" "00006" "00006" "2020-03-07 20:12:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290544" "00289373" "1" "00006" "00006" "2020-03-07 20:12:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290545" "00289374" "1" "00006" "00006" "2020-03-07 20:12:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290546" "00289375" "1" "00006" "00006" "2020-03-07 20:12:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290548" "00289377" "1" "00006" "00006" "2020-03-07 20:12:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290549" "00289378" "1" "00006" "00006" "2020-03-07 20:12:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000287363" "JAM2" "0000288246" "JAM2" "0000288247" "JAM2" "0000288248" "JAM2" "0000288249" "JAM2" "0000290543" "JAM2" "0000290544" "JAM2" "0000290545" "JAM2" "0000290546" "JAM2" "0000290548" "JAM2" "0000290549" "JAM2" ## 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 = 22 "{{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}}" "0000643160" "3" "70" "21" "27074569" "27074569" "subst" "1.62614E-5" "03588" "JAM2_000002" "g.27074569C>T" "" "" "" "g.62986C>T" "" "Germline" "yes" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000643162" "3" "70" "21" "27074569" "27074569" "subst" "1.62614E-5" "03588" "JAM2_000002" "g.27074569C>T" "" "" "" "g.62986C>T" "" "Germline" "yes" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000643163" "11" "70" "21" "27070988" "27070988" "dup" "0" "03588" "JAM2_000003" "g.27070988dup" "" "" "" "395-1dupG" "" "Germline" "" "" "0" "" "" "g.25698676dup" "" "pathogenic (recessive)" "" "0000643209" "21" "70" "21" "27066149" "27066149" "subst" "0" "03588" "JAM2_000004" "g.27066149G>A" "" "" "" "g.54566G>A" "" "Germline" "yes" "" "0" "" "" "g.25693837G>A" "" "pathogenic (recessive)" "" "0000643210" "0" "70" "21" "27062221" "27062224" "del" "0" "03588" "JAM2_000005" "g.27062221_27062224del" "" "" "" "177_180delCAGA" "" "Germline" "" "" "0" "" "" "g.25689909_25689912del" "" "pathogenic (recessive)" "" "0000644124" "3" "90" "21" "27062187" "27062187" "del" "0" "00006" "JAM2_000008" "g.27062187del" "" "{PMID:Cen 2020:31851307}" "" "140delT" "" "Germline" "yes" "" "0" "" "" "g.25689875del" "" "pathogenic (recessive)" "ACMG" "0000644125" "3" "90" "21" "27062187" "27062187" "del" "0" "00006" "JAM2_000008" "g.27062187del" "" "{PMID:Cen 2020:31851307}" "" "140delT" "" "Germline" "yes" "" "0" "" "" "g.25689875del" "" "pathogenic (recessive)" "ACMG" "0000644126" "3" "90" "21" "27012134" "27012134" "subst" "0" "00006" "JAM2_000006" "g.27012134A>G" "" "{PMID:Cen 2020:31851307}" "" "M1?" "" "Germline" "" "" "0" "" "" "g.25639822A>G" "" "pathogenic (recessive)" "ACMG" "0000644127" "11" "90" "21" "27071098" "27071098" "subst" "0" "00006" "JAM2_000009" "g.27071098G>C" "" "{PMID:Cen 2020:31851307}" "" "" "" "Germline" "" "" "0" "" "" "g.25698786G>C" "" "pathogenic (recessive)" "ACMG" "0000644128" "21" "90" "21" "27056194" "27066221" "del" "0" "00006" "JAM2_000007" "g.(27012201_27056194)_(27066221_27070988)del" "" "{PMID:Cen 2020:31851307}" "" "" "" "Germline" "" "" "0" "" "" "g.(25639889_25683882)_(25693909_25698676)del" "" "pathogenic (recessive)" "ACMG" "0000647226" "3" "90" "21" "27074569" "27074569" "subst" "1.62614E-5" "00006" "JAM2_000002" "g.27074569C>T" "" "{PMID:Schottlaender 2020:32142645}" "" "" "" "Germline" "" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000647227" "3" "90" "21" "27074569" "27074569" "subst" "1.62614E-5" "00006" "JAM2_000002" "g.27074569C>T" "" "{PMID:Schottlaender 2020:32142645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000647228" "3" "90" "21" "27074569" "27074569" "subst" "1.62614E-5" "00006" "JAM2_000002" "g.27074569C>T" "" "{PMID:Schottlaender 2020:32142645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000647229" "3" "90" "21" "27074569" "27074569" "subst" "1.62614E-5" "00006" "JAM2_000002" "g.27074569C>T" "" "{PMID:Schottlaender 2020:32142645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000647230" "3" "90" "21" "27074569" "27074569" "subst" "1.62614E-5" "00006" "JAM2_000002" "g.27074569C>T" "" "{PMID:Schottlaender 2020:32142645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.25702257C>T" "" "pathogenic (recessive)" "" "0000647231" "11" "90" "21" "27070988" "27070988" "dup" "0" "00006" "JAM2_000003" "g.27070988dup" "" "{PMID:Schottlaender 2020:32142645}" "" "395-1dupG" "" "Germline" "" "" "0" "" "" "g.25698676dup" "" "pathogenic (recessive)" "" "0000647232" "3" "90" "21" "27062221" "27062224" "del" "0" "00006" "JAM2_000005" "g.27062221_27062224del" "" "{PMID:Schottlaender 2020:32142645}" "" "177_180delCAGA" "" "Germline" "" "" "0" "" "" "g.25689909_25689912del" "" "pathogenic (recessive)" "" "0000647233" "21" "90" "21" "27066149" "27066149" "subst" "0" "00006" "JAM2_000004" "g.27066149G>A" "" "{PMID:Schottlaender 2020:32142645}" "" "" "" "Germline" "" "" "0" "" "" "g.25693837G>A" "" "pathogenic (recessive)" "" "0000727873" "0" "30" "21" "27071131" "27071131" "subst" "4.06105E-5" "01943" "JAM2_000010" "g.27071131C>T" "" "" "" "JAM2(NM_021219.4):c.537C>T (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927061" "0" "10" "21" "27056250" "27056250" "subst" "0.108523" "02329" "JAM2_000011" "g.27056250A>G" "" "" "" "JAM2(NM_021219.4):c.123A>G (p.V41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931211" "0" "10" "21" "27086941" "27086941" "del" "0" "02329" "JAM2_000012" "g.27086941del" "" "" "" "JAM2(NM_021219.4):c.865-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983949" "0" "30" "21" "27012154" "27012154" "subst" "0.00382024" "01804" "JAM2_000013" "g.27012154C>A" "" "" "" "JAM2(NM_021219.4):c.21C>A (p.(His7Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 JAM2 ## Count = 22 "{{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}}" "0000643160" "00010257" "70" "685" "0" "685" "0" "c.685C>T" "r.(685c>u)" "p.(Arg229*)" "" "0000643162" "00010257" "70" "685" "0" "685" "0" "c.685C>T" "r.(685c>u)" "p.(Arg229*)" "" "0000643163" "00010257" "70" "395" "-1" "395" "-1" "c.395-1dup" "r.spl" "p.?" "" "0000643209" "00010257" "70" "323" "0" "323" "0" "c.323G>A" "r.(323g>a)" "p.(Arg108His)" "" "0000643210" "00010257" "70" "177" "0" "180" "0" "c.177_180del" "r.(177_180del)" "p.(Arg60*)" "" "0000644124" "00010257" "90" "143" "0" "143" "0" "c.143del" "r.(?)" "p.(Leu48*)" "" "0000644125" "00010257" "90" "143" "0" "143" "0" "c.143del" "r.(?)" "p.(Leu48*)" "" "0000644126" "00010257" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000644127" "00010257" "90" "504" "0" "504" "0" "c.504G>C" "r.504g>c" "p.Trp168Cys" "" "0000644128" "00010257" "90" "68" "-1" "394" "1" "c.(67+1_68-1)_(394+1_395-1)del" "r.68_394del" "p.Tyr23_Val131delinsLeu" "1i_4i" "0000647226" "00010257" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0000647227" "00010257" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0000647228" "00010257" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0000647229" "00010257" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0000647230" "00010257" "90" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229*)" "" "0000647231" "00010257" "90" "395" "-1" "395" "-1" "c.395-1dup" "r.spl" "p.?" "" "0000647232" "00010257" "90" "177" "0" "180" "0" "c.177_180del" "r.(?)" "p.(Arg60*)" "" "0000647233" "00010257" "90" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "" "0000727873" "00010257" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Pro179=)" "" "0000927061" "00010257" "10" "123" "0" "123" "0" "c.123A>G" "r.(?)" "p.(Val41=)" "" "0000931211" "00010257" "10" "1263" "0" "1263" "0" "c.*324del" "r.(?)" "p.(=)" "" "0000983949" "00010257" "30" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(His7Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000287363" "0000643160" "0000287367" "0000643162" "0000287368" "0000643163" "0000287368" "0000643209" "0000287414" "0000643210" "0000288246" "0000644124" "0000288247" "0000644125" "0000288248" "0000644126" "0000288249" "0000644127" "0000288249" "0000644128" "0000290543" "0000647226" "0000290544" "0000647227" "0000290545" "0000647228" "0000290545" "0000647230" "0000290546" "0000647229" "0000290548" "0000647231" "0000290548" "0000647233" "0000290549" "0000647232"