### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNB2) # 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}}" "GNB2" "guanine nucleotide binding protein (G protein), beta polypeptide 2" "7" "q21.3-q22.1" "unknown" "NC_000007.13" "UD_132465767296" "" "https://www.LOVD.nl/GNB2" "" "1" "4398" "2783" "139390" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GNB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-23 12:36:59" "00000" "2026-01-20 18:57:21" ## 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}}" "00008653" "GNB2" "guanine nucleotide binding protein (G protein), beta polypeptide 2" "001" "NM_005273.3" "" "NP_005264.2" "" "" "" "-273" "1391" "1023" "100271363" "100276792" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "06937" "NEDHYDF" "neurodevelopmental disorder with hypotonia and dysmorphic facies" "AD" "619503" "" "" "" "00006" "2022-04-26 19:55:01" "" "" "06938" "SSS4" "sick sinus syndrome, type 4" "AD" "619464" "" "" "" "00006" "2022-04-26 19:55:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GNB2" "06937" "GNB2" "06938" ## 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}}" "00248387" "" "" "" "1" "" "03375" "{PMID:Fukuda 2020:31698099}, {DOI:Fukuda 2020:10.1016/j.ejmg.2019.103804}" "" "F" "" "Japan" "" "0" "" "" "" "patient" "00408742" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "" "Pat1" "00408743" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "" "Pat2" "00408744" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "" "Pat3" "00408745" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "" "Pat4" "00408746" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "New Zealand" "" "0" "" "" "Europe" "Pat5" "00408747" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "F" "no" "" "" "0" "" "" "" "Pat6" "00408748" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "Arab;Moslem" "Pat7" "00408749" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "" "Pat8" "00408750" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "fetus" "F" "" "" "" "0" "" "" "" "Pat9" "00408751" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "F" "no" "" "" "0" "" "" "" "Pat10" "00408752" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "M" "no" "" "" "0" "" "" "" "Pat11" "00408753" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34183358}" "" "F" "no" "" "" "0" "" "" "white" "Pat12" "00408754" "" "" "" "1" "" "00006" "{PMID:Fukuda 2020:31698099}" "" "F" "" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00248387" "00139" "00408742" "00139" "00408743" "00139" "00408744" "00139" "00408745" "00139" "00408746" "00139" "00408747" "00139" "00408748" "00139" "00408749" "00139" "00408750" "00139" "00408751" "00139" "00408752" "00139" "00408753" "00139" "00408754" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 06937, 06938 ## 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}}" "0000187384" "00139" "00248387" "03375" "Isolated (sporadic)" "07y" "moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); mild speech delay (HP:0000750)" "00y00m01d" "" "HP:0002804" "" "" "" "" "" "" "0000300861" "00139" "00408742" "00006" "Isolated (sporadic)" "12y" "see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; no hypotonia; no aspiration; clinically one episode of possible seizure activity, EEG no epileptiform activity identified; dysmorphism; no dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300862" "00139" "00408743" "00006" "Isolated (sporadic)" "26y" "see paper; ..., see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; no hypotonia; EEG subtle slowing and sharp activity over left temporal region during sleep, 4-5 generalised seizures, onset 14y, on valproate and lamotrigine; no dysmorphism; no cardiac malformation; no ocular abnormalities; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300863" "00139" "00408744" "00006" "Isolated (sporadic)" "7y" "see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; EEG iIntermittent abnormal background cerebral rhythm at right occipital region, no epileptiform potentials, no clinical seizures noted; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; exotropia; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300864" "00139" "00408745" "00006" "Isolated (sporadic)" "7y" "see paper; ..., severe developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300865" "00139" "00408746" "00006" "Isolated (sporadic)" "2y" "see paper; ..., severe developmental delay/intellectual disability; no autistic behaviour; hypotonia; aspiration; EEG consistent with underlying structural abnormality with extensive stroke in the frontal area and cerebral dysfunction, no epileptiform activity; dysmorphism; no dry skin; cardiac malformation; nystagmus; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300866" "00139" "00408747" "00006" "Isolated (sporadic)" "5y" "see paper; ..., severe developmental delay/intellectual disability; hypotonia; no aspiration; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; esotropia; renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300867" "00139" "00408748" "00006" "Isolated (sporadic)" "6y" "see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies, EMG normal; EEG relative abundance of sleep spindles, without epileptiform activity; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300868" "00139" "00408749" "00006" "Isolated (sporadic)" "14y" "see paper; ..., mild-moderate developmental delay/intellectual disability; autistic behaviour; hypotonia; aspiration; axonal neuropathy; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; no ocular abnormalities;" "" "" "" "" "" "" "" "" "intellectual disability" "0000300869" "00139" "00408750" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., dysmorphism; cardiac malformation; no ocular abnormalities; renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300870" "00139" "00408751" "00006" "Isolated (sporadic)" "9y" "see paper; ..., severe developmental delay/intellectual disability; no autistic behaviour; hypotonia; aspiration; normal nerve conduction studies, EMG myopathic; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; hyper-metropia; renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300871" "00139" "00408752" "00006" "Isolated (sporadic)" "14y" "see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; EEG normal; dysmorphism; dry skin; cardiac malformation; no cardiac arrhythmia; no ocular abnormalities; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300872" "00139" "00408753" "00006" "Isolated (sporadic)" "9y" "see paper; ..., moderate developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies, EMG normal; EEG normal; dysmorphism; no dry skin; no cardiac arrhythmia; no ocular abnormalities; no renal malformation" "" "" "" "" "" "" "" "" "intellectual disability" "0000300873" "00139" "00408754" "00006" "Isolated (sporadic)" "7y" "see paper; ..., moderate developmental delay/intellectual disability; no autistic behaviour; hypotonia; no aspiration; normal nerve conduction studies; EEG normal; dysmorphism; no cardiac malformation; no cardiac arrhythmia; exotropia" "" "" "" "" "" "" "" "" "intellectual disability" ## 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}}" "0000249492" "00248387" "1" "03375" "03375" "2019-07-23 10:44:22" "03375" "2019-07-23 11:07:15" "SEQ-NG-I" "DNA" "" "hiraide" "0000410006" "00408742" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410007" "00408743" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410008" "00408744" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410009" "00408745" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410010" "00408746" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410011" "00408747" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410012" "00408748" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410013" "00408749" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410014" "00408750" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410015" "00408751" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410016" "00408752" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410017" "00408753" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" "0000410018" "00408754" "1" "00006" "00006" "2022-04-27 00:00:11" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 61 "{{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}}" "0000288320" "0" "50" "7" "100279705" "100279705" "subst" "2.04827E-5" "01943" "GIGYF1_000001" "g.100279705T>C" "" "" "" "GIGYF1(NM_022574.5):c.2915A>G (p.Q972R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100682082T>C" "" "VUS" "" "0000331744" "0" "50" "7" "100275121" "100275121" "subst" "2.04085E-5" "01804" "GNB2_000001" "g.100275121G>A" "" "" "" "GNB2(NM_005273.3):c.268G>A (p.(Val90Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100677498G>A" "" "VUS" "" "0000530047" "0" "10" "7" "100273961" "100273961" "subst" "0.00817951" "02330" "GIGYF1_000004" "g.100273961G>C" "" "" "" "GNB2(NM_005273.4):c.57+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100676338G>C" "" "benign" "" "0000530048" "0" "10" "7" "100274434" "100274434" "subst" "0.00541176" "02330" "GIGYF1_000005" "g.100274434T>C" "" "" "" "GNB2(NM_005273.4):c.203+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100676811T>C" "" "benign" "" "0000530049" "0" "10" "7" "100275110" "100275110" "subst" "0.0225615" "02330" "GIGYF1_000006" "g.100275110C>G" "" "" "" "GNB2(NM_005273.4):c.268-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100677487C>G" "" "benign" "" "0000530050" "0" "10" "7" "100275444" "100275444" "subst" "0.00256962" "02330" "GIGYF1_000007" "g.100275444G>A" "" "" "" "GNB2(NM_005273.4):c.497+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100677821G>A" "" "benign" "" "0000530051" "0" "10" "7" "100276059" "100276059" "subst" "0.00257401" "02330" "GIGYF1_000008" "g.100276059C>T" "" "" "" "GNB2(NM_005273.4):c.738C>T (p.D246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100678436C>T" "" "benign" "" "0000530052" "0" "10" "7" "100276080" "100276080" "subst" "5.69046E-5" "02330" "GIGYF1_000009" "g.100276080C>T" "" "" "" "GNB2(NM_005273.4):c.759C>T (p.F253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100678457C>T" "" "benign" "" "0000530053" "0" "10" "7" "100276188" "100276188" "subst" "2.84444E-5" "02330" "GIGYF1_000010" "g.100276188C>T" "" "" "" "GNB2(NM_005273.4):c.867C>T (p.Y289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100678565C>T" "" "benign" "" "0000530054" "0" "10" "7" "100276355" "100276355" "subst" "0.00661366" "02330" "GIGYF1_000011" "g.100276355C>T" "" "" "" "GNB2(NM_005273.4):c.954C>T (p.L318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100678732C>T" "" "benign" "" "0000530055" "0" "10" "7" "100276437" "100276437" "del" "0" "02330" "GIGYF1_000012" "g.100276437del" "" "" "" "GNB2(NM_005273.4):c.*13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100678814del" "" "benign" "" "0000530056" "0" "30" "7" "100279363" "100279363" "subst" "3.22878E-5" "01943" "GIGYF1_000013" "g.100279363G>C" "" "" "" "GIGYF1(NM_022574.5):c.3087C>G (p.I1029M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100681740G>C" "" "likely benign" "" "0000530057" "0" "50" "7" "100280991" "100280991" "subst" "0" "01943" "GIGYF1_000014" "g.100280991C>T" "" "" "" "GIGYF1(NM_022574.5):c.2129G>A (p.R710H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100683368C>T" "" "VUS" "" "0000530058" "0" "50" "7" "100281209" "100281210" "del" "0" "01943" "GIGYF1_000015" "g.100281209_100281210del" "" "" "" "GIGYF1(NM_022574.5):c.2015_2016delAG (p.Q672Rfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100683586_100683587del" "" "VUS" "" "0000578276" "0" "70" "7" "100275000" "100275000" "subst" "0" "03375" "GNB2_000002" "g.100275000G>A" "" "{PMID:Fukuda 2020:31698099}, {DOI:Fukuda 2020:10.1016/j.ejmg.2019.103804}" "" "" "" "De novo" "" "" "0" "" "" "g.100677377G>A" "" "likely pathogenic (dominant)" "" "0000610565" "0" "10" "7" "100275103" "100275103" "subst" "4.09638E-6" "02330" "GIGYF1_000017" "g.100275103G>A" "" "" "" "GNB2(NM_005273.4):c.268-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100677480G>A" "" "benign" "" "0000655678" "0" "30" "7" "100275806" "100275806" "subst" "0.000747178" "02330" "GIGYF1_000018" "g.100275806G>A" "" "" "" "GNB2(NM_005273.4):c.583G>A (p.D195N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100678183G>A" "" "likely benign" "" "0000721150" "0" "10" "7" "100274434" "100274435" "dup" "0" "02330" "GIGYF1_000019" "g.100274434_100274435dup" "" "" "" "GNB2(NM_005273.4):c.203_203+1insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000847241" "0" "90" "7" "100274988" "100274988" "subst" "0" "00006" "GNB2_000003" "g.100274988G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677365G>A" "" "pathogenic (dominant)" "" "0000847242" "0" "90" "7" "100274988" "100274988" "subst" "0" "00006" "GNB2_000003" "g.100274988G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677365G>A" "" "pathogenic (dominant)" "" "0000847243" "0" "90" "7" "100274988" "100274988" "subst" "0" "00006" "GNB2_000003" "g.100274988G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677365G>A" "" "pathogenic (dominant)" "" "0000847244" "0" "90" "7" "100275000" "100275000" "subst" "0" "00006" "GNB2_000002" "g.100275000G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677377G>A" "" "pathogenic (dominant)" "" "0000847245" "0" "90" "7" "100275000" "100275000" "subst" "0" "00006" "GNB2_000002" "g.100275000G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677377G>A" "" "pathogenic (dominant)" "" "0000847246" "0" "90" "7" "100275000" "100275000" "subst" "0" "00006" "GNB2_000002" "g.100275000G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677377G>A" "" "pathogenic (dominant)" "" "0000847247" "0" "90" "7" "100275000" "100275000" "subst" "0" "00006" "GNB2_000002" "g.100275000G>A" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677377G>A" "" "pathogenic (dominant)" "" "0000847248" "0" "90" "7" "100275036" "100275036" "subst" "0" "00006" "GNB2_000004" "g.100275036A>G" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677413A>G" "" "pathogenic (dominant)" "" "0000847249" "0" "90" "7" "100275036" "100275036" "subst" "0" "00006" "GNB2_000004" "g.100275036A>G" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677413A>G" "" "pathogenic (dominant)" "" "0000847250" "0" "90" "7" "100275037" "100275037" "subst" "0" "00006" "GNB2_000005" "g.100275037A>C" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677414A>C" "" "pathogenic (dominant)" "" "0000847251" "0" "90" "7" "100275037" "100275037" "subst" "0" "00006" "GNB2_000005" "g.100275037A>C" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677414A>C" "" "pathogenic (dominant)" "" "0000847252" "0" "90" "7" "100275384" "100275384" "subst" "0" "00006" "GNB2_000006" "g.100275384C>T" "" "{PMID:Tan 2022:34183358}" "" "" "" "De novo" "" "" "0" "" "" "g.100677761C>T" "" "pathogenic (dominant)" "" "0000847253" "0" "90" "7" "100275000" "100275000" "subst" "0" "00006" "GNB2_000002" "g.100275000G>A" "" "{PMID:Fukuda 2020:31698099}" "" "" "" "De novo" "" "" "0" "" "" "g.100677377G>A" "" "pathogenic (dominant)" "" "0000887513" "0" "50" "7" "100275735" "100275735" "subst" "0" "02327" "GIGYF1_000020" "g.100275735T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887514" "0" "50" "7" "100276225" "100276225" "subst" "4.06385E-6" "02327" "GIGYF1_000021" "g.100276225G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924597" "0" "50" "7" "100275210" "100275210" "subst" "0" "02327" "GIGYF1_000022" "g.100275210C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964305" "0" "70" "7" "100275037" "100275037" "subst" "0" "02327" "GIGYF1_000027" "g.100275037A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964306" "0" "50" "7" "100275154" "100275154" "subst" "0" "02325" "GIGYF1_000028" "g.100275154A>G" "" "" "" "GNB2(NM_005273.4):c.301A>G (p.M101V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964307" "0" "50" "7" "100280357" "100280360" "del" "0" "02325" "GIGYF1_000029" "g.100280357_100280360del" "" "" "" "GIGYF1(NM_001375765.1):c.2455_2458delTCTG (p.S819Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964308" "0" "50" "7" "100281711" "100281716" "del" "0" "02325" "GIGYF1_000030" "g.100281711_100281716del" "" "" "" "GIGYF1(NM_001375765.1):c.1800_1805delGCCGCC (p.P601_P602del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977408" "0" "30" "7" "100275712" "100275712" "subst" "0.000166687" "01804" "GIGYF1_000032" "g.100275712C>T" "" "" "" "GNB2(NM_005273.4):c.498-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977409" "0" "30" "7" "100275829" "100275829" "subst" "3.65476E-5" "01804" "GIGYF1_000033" "g.100275829C>T" "" "" "" "GNB2(NM_005273.4):c.606C>T (p.(Gly202=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977410" "0" "50" "7" "100279710" "100279715" "del" "0" "01804" "GIGYF1_000034" "g.100279710_100279715del" "" "" "" "GIGYF1(NM_001375765.1):c.2906_2911del (p.(Gln969_Gln970del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977411" "0" "30" "7" "100279988" "100279988" "subst" "0.00151642" "01804" "GIGYF1_000035" "g.100279988G>A" "" "" "" "GIGYF1(NM_001375765.1):c.2718C>T (p.(Cys906=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977412" "0" "30" "7" "100280070" "100280070" "subst" "0.000935816" "01804" "GIGYF1_000036" "g.100280070C>T" "" "" "" "GIGYF1(NM_001375765.1):c.2636G>A (p.(Arg879His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977413" "0" "50" "7" "100280295" "100280295" "subst" "0" "02325" "GIGYF1_000037" "g.100280295G>A" "" "" "" "GIGYF1(NM_001375765.1):c.2518C>T (p.L840F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977414" "0" "50" "7" "100280325" "100280325" "subst" "0" "01804" "GIGYF1_000038" "g.100280325T>A" "" "" "" "GIGYF1(NM_001375765.1):c.2488A>T (p.(Lys830*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977415" "0" "30" "7" "100281264" "100281264" "subst" "0.000796256" "01804" "GIGYF1_000039" "g.100281264G>A" "" "" "" "GIGYF1(NM_001375765.1):c.1970-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996017" "0" "30" "7" "100276108" "100276108" "subst" "2.84451E-5" "01804" "GIGYF1_000044" "g.100276108A>G" "" "" "" "GNB2(NM_005273.3):c.787A>G (p.(Met263Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996018" "0" "30" "7" "100276124" "100276124" "subst" "1.62516E-5" "01804" "GIGYF1_000045" "g.100276124A>T" "" "" "" "GNB2(NM_005273.3):c.803A>T (p.(Asn268Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996019" "0" "50" "7" "100279394" "100279394" "subst" "0" "01804" "GIGYF1_000046" "g.100279394C>T" "" "" "" "GIGYF1(NM_022574.4):c.3056G>A (p.(Gly1019Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996020" "0" "30" "7" "100279858" "100279858" "subst" "0" "01804" "GIGYF1_000047" "g.100279858A>G" "" "" "" "GIGYF1(NM_022574.4):c.2762T>C (p.(Val921Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996021" "0" "30" "7" "100280304" "100280304" "subst" "9.11029E-6" "01804" "GIGYF1_000048" "g.100280304C>T" "" "" "" "GIGYF1(NM_022574.4):c.2509G>A (p.(Gly837Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996022" "0" "50" "7" "100281012" "100281012" "subst" "0" "01804" "GIGYF1_000049" "g.100281012T>C" "" "" "" "GIGYF1(NM_022574.4):c.2108A>G (p.(Lys703Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996023" "0" "50" "7" "100281170" "100281173" "del" "0" "01804" "GIGYF1_000050" "g.100281170_100281173del" "" "" "" "GIGYF1(NM_022574.4):c.2052+4_2052+7delAGTG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996024" "0" "50" "7" "100281193" "100281193" "subst" "0" "02325" "GIGYF1_000051" "g.100281193G>A" "" "" "" "GIGYF1(NM_001375765.1):c.2032C>T (p.Q678*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014250" "0" "10" "7" "100275444" "100275444" "subst" "0.00256962" "02325" "GIGYF1_000007" "g.100275444G>A" "" "" "" "GNB2(NM_005273.4):c.497+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014251" "0" "30" "7" "100275772" "100275772" "subst" "4.06075E-6" "02330" "GIGYF1_000055" "g.100275772C>T" "" "" "" "GNB2(NM_005273.4):c.549C>T (p.H183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025287" "0" "10" "7" "100274964" "100274964" "subst" "0.000113887" "02330" "GIGYF1_000056" "g.100274964T>C" "" "" "" "GNB2(NM_005273.4):c.204-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035986" "0" "30" "7" "100273948" "100273948" "subst" "0.000293438" "02330" "GIGYF1_000058" "g.100273948G>A" "" "" "" "GNB2(NM_005273.4):c.57+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035987" "0" "30" "7" "100275116" "100275116" "subst" "5.31319E-5" "01804" "GIGYF1_000059" "g.100275116C>T" "" "" "" "GNB2(NM_005273.4):c.268-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064773" "0" "30" "7" "100271408" "100271408" "subst" "0" "01804" "GNB2_000007" "g.100271408C>T" "" "" "" "GNB2(NM_005273.4):c.-228C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064774" "0" "50" "7" "100281219" "100281219" "subst" "2.43639E-5" "02325" "GIGYF1_000068" "g.100281219G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GNB2 ## Count = 61 "{{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}}" "0000288320" "00008653" "50" "4304" "0" "4304" "0" "c.*3281T>C" "r.(=)" "p.(=)" "" "0000331744" "00008653" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Ile)" "" "0000530047" "00008653" "10" "57" "16" "57" "16" "c.57+16G>C" "r.(=)" "p.(=)" "" "0000530048" "00008653" "10" "203" "12" "203" "12" "c.203+12T>C" "r.(=)" "p.(=)" "" "0000530049" "00008653" "10" "268" "-11" "268" "-11" "c.268-11C>G" "r.(=)" "p.(=)" "" "0000530050" "00008653" "10" "497" "3" "497" "3" "c.497+3G>A" "r.spl?" "p.?" "" "0000530051" "00008653" "10" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Asp246=)" "" "0000530052" "00008653" "10" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Phe253=)" "" "0000530053" "00008653" "10" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Tyr289=)" "" "0000530054" "00008653" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Leu318=)" "" "0000530055" "00008653" "10" "1036" "0" "1036" "0" "c.*13del" "r.(?)" "p.(=)" "" "0000530056" "00008653" "30" "3962" "0" "3962" "0" "c.*2939G>C" "r.(=)" "p.(=)" "" "0000530057" "00008653" "50" "5590" "0" "5590" "0" "c.*4567C>T" "r.(=)" "p.(=)" "" "0000530058" "00008653" "50" "5808" "0" "5809" "0" "c.*4785_*4786del" "r.(=)" "p.(=)" "" "0000578276" "00008653" "70" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "5" "0000610565" "00008653" "10" "268" "-18" "268" "-18" "c.268-18G>A" "r.(=)" "p.(=)" "" "0000655678" "00008653" "30" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Asp195Asn)" "" "0000721150" "00008653" "10" "203" "12" "203" "13" "c.203+12_203+13dup" "r.(=)" "p.(=)" "" "0000847241" "00008653" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000847242" "00008653" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000847243" "00008653" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000847244" "00008653" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "" "0000847245" "00008653" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "" "0000847246" "00008653" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "" "0000847247" "00008653" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "" "0000847248" "00008653" "90" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Lys89Glu)" "" "0000847249" "00008653" "90" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Lys89Glu)" "" "0000847250" "00008653" "90" "266" "0" "266" "0" "c.266A>C" "r.(?)" "p.(Lys89Thr)" "" "0000847251" "00008653" "90" "266" "0" "266" "0" "c.266A>C" "r.(?)" "p.(Lys89Thr)" "" "0000847252" "00008653" "90" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ser147Leu)" "" "0000847253" "00008653" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "" "0000887513" "00008653" "50" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "" "0000887514" "00008653" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" "" "0000924597" "00008653" "50" "357" "0" "357" "0" "c.357C>G" "r.(?)" "p.(Asn119Lys)" "" "0000964305" "00008653" "70" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Lys89Arg)" "" "0000964306" "00008653" "50" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Met101Val)" "" "0000964307" "00008653" "50" "4956" "0" "4959" "0" "c.*3933_*3936del" "r.(=)" "p.(=)" "" "0000964308" "00008653" "50" "6310" "0" "6315" "0" "c.*5287_*5292del" "r.(=)" "p.(=)" "" "0000977408" "00008653" "30" "498" "-9" "498" "-9" "c.498-9C>T" "r.(=)" "p.(=)" "" "0000977409" "00008653" "30" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(=)" "" "0000977410" "00008653" "50" "4309" "0" "4314" "0" "c.*3286_*3291del" "r.(=)" "p.(=)" "" "0000977411" "00008653" "30" "4587" "0" "4587" "0" "c.*3564G>A" "r.(=)" "p.(=)" "" "0000977412" "00008653" "30" "4669" "0" "4669" "0" "c.*3646C>T" "r.(=)" "p.(=)" "" "0000977413" "00008653" "50" "4894" "0" "4894" "0" "c.*3871G>A" "r.(=)" "p.(=)" "" "0000977414" "00008653" "50" "4924" "0" "4924" "0" "c.*3901T>A" "r.(=)" "p.(=)" "" "0000977415" "00008653" "30" "5863" "0" "5863" "0" "c.*4840G>A" "r.(=)" "p.(=)" "" "0000996017" "00008653" "30" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.(Met263Val)" "" "0000996018" "00008653" "30" "803" "0" "803" "0" "c.803A>T" "r.(?)" "p.(Asn268Ile)" "" "0000996019" "00008653" "50" "3993" "0" "3993" "0" "c.*2970C>T" "r.(=)" "p.(=)" "" "0000996020" "00008653" "30" "4457" "0" "4457" "0" "c.*3434A>G" "r.(=)" "p.(=)" "" "0000996021" "00008653" "30" "4903" "0" "4903" "0" "c.*3880C>T" "r.(=)" "p.(=)" "" "0000996022" "00008653" "50" "5611" "0" "5611" "0" "c.*4588T>C" "r.(=)" "p.(=)" "" "0000996023" "00008653" "50" "5769" "0" "5772" "0" "c.*4746_*4749del" "r.(=)" "p.(=)" "" "0000996024" "00008653" "50" "5792" "0" "5792" "0" "c.*4769G>A" "r.(=)" "p.(=)" "" "0001014250" "00008653" "10" "497" "3" "497" "3" "c.497+3G>A" "r.spl?" "p.?" "" "0001014251" "00008653" "30" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(=)" "" "0001025287" "00008653" "10" "204" "-11" "204" "-11" "c.204-11T>C" "r.(=)" "p.(=)" "" "0001035986" "00008653" "30" "57" "3" "57" "3" "c.57+3G>A" "r.spl?" "p.?" "" "0001035987" "00008653" "30" "268" "-5" "268" "-5" "c.268-5C>T" "r.spl?" "p.?" "" "0001064773" "00008653" "30" "-228" "0" "-228" "0" "c.-228C>T" "r.(?)" "p.(=)" "" "0001064774" "00008653" "50" "5818" "0" "5818" "0" "c.*4795G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000249492" "0000578276" "0000410006" "0000847241" "0000410007" "0000847242" "0000410008" "0000847243" "0000410009" "0000847244" "0000410010" "0000847245" "0000410011" "0000847246" "0000410012" "0000847247" "0000410013" "0000847248" "0000410014" "0000847249" "0000410015" "0000847250" "0000410016" "0000847251" "0000410017" "0000847252" "0000410018" "0000847253"