### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SH3BP2) # 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}}" "SH3BP2" "SH3-domain binding protein 2" "4" "p16.3" "unknown" "NG_011609.1" "UD_132085252869" "" "https://www.LOVD.nl/SH3BP2" "" "1" "10825" "6452" "602104" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-05 09:57:18" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018840" "SH3BP2" "transcript variant 1" "004" "NM_003023.4" "" "NP_003014.3" "" "" "" "-261" "8948" "1686" "2820541" "2842823" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01249" "CRBM" "Cherubism" "AD" "118400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SH3BP2" "01249" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00079909" "" "" "" "1" "" "01742" "{PMID:Carvalho 2009:19017279}" "" "" "" "" "" "0" "" "" "" "" "00081762" "" "" "" "1" "" "00006" "{PMID:Carvalho 2009:19017279}" "" "" "" "" "" "0" "" "" "" "" "00293613" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" "00079909" "00198" "00293613" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01249 ## Count = 2 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000061401" "00198" "00079909" "01742" "Unknown" "" "Diagnosis: Central giant cell lesion (CGCL)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000079992" "00079909" "1" "01742" "01742" "2016-08-26 16:06:30" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081892" "00081762" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000294781" "00293613" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000079992" "SH3BP2" "0000081892" "SH3BP2" ## 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 = 122 "{{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}}" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000128867" "0" "50" "4" "2834093" "2834093" "subst" "0" "01742" "SH3BP2_000001" "g.2834093A>T" "" "{PMID:Carvalho 2009:19017279}" "" "" "" "Germline" "" "" "0" "" "" "g.2832366A>T" "" "VUS" "" "0000132595" "0" "50" "4" "2834093" "2834093" "subst" "0" "00006" "SH3BP2_000001" "g.2834093A>T" "" "{PMID:Carvalho 2009:19017279}" "" "" "" "Germline" "" "" "0" "" "" "g.2832366A>T" "" "VUS" "" "0000251013" "0" "10" "4" "2814148" "2814148" "subst" "0.0503362" "02326" "SH3BP2_000025" "g.2814148A>G" "" "" "" "SH3BP2(NM_001145855.2):c.24A>G (p.T8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2812421A>G" "" "benign" "" "0000251875" "0" "30" "4" "2831717" "2831717" "subst" "0" "02326" "SH3BP2_000015" "g.2831717A>G" "" "" "" "SH3BP2(NM_001145855.2):c.1168A>G (p.I390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2829990A>G" "" "likely benign" "" "0000252644" "0" "50" "4" "2835561" "2835561" "subst" "0.000592937" "02326" "SH3BP2_000024" "g.2835561A>G" "" "" "" "SH3BP2(NM_001122681.1):c.1686A>G (p.(*562Trpext*30)), SH3BP2(NM_001145855.2):c.1770A>G (p.*590Wext*30), SH3BP2(NM_003023.4):c.1686A>G (p.*562Wext*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2833834A>G" "" "VUS" "" "0000255970" "0" "50" "4" "2826399" "2826399" "subst" "0.00107294" "01943" "SH3BP2_000005" "g.2826399A>G" "" "" "" "SH3BP2(NM_001122681.1):c.299A>G (p.(His100Arg)), SH3BP2(NM_001145855.2):c.383A>G (p.H128R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2824672A>G" "" "VUS" "" "0000298188" "0" "10" "4" "2822467" "2822467" "subst" "0.453628" "02325" "SH3BP2_000002" "g.2822467G>T" "" "" "" "SH3BP2(NM_001145855.2):c.207G>T (p.L69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2820740G>T" "" "benign" "" "0000298189" "0" "10" "4" "2826400" "2826400" "subst" "0.75502" "02325" "SH3BP2_000006" "g.2826400T>C" "" "" "" "SH3BP2(NM_001145855.2):c.384T>C (p.H128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2824673T>C" "" "benign" "" "0000298190" "0" "10" "4" "2831383" "2831383" "subst" "0.509024" "02325" "SH3BP2_000012" "g.2831383T>G" "" "" "" "SH3BP2(NM_001145855.2):c.834T>G (p.A278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2829656T>G" "" "benign" "" "0000302087" "0" "30" "4" "2831570" "2831570" "subst" "0.000886071" "02326" "SH3BP2_000014" "g.2831570G>A" "" "" "" "SH3BP2(NM_001145855.2):c.1021G>A (p.G341R), SH3BP2(NM_001145856.1):c.1108G>A (p.G370R), SH3BP2(NM_003023.4):c.937G>A (p.G313R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2829843G>A" "" "likely benign" "" "0000302088" "0" "10" "4" "2833200" "2833200" "subst" "0" "02326" "SH3BP2_000017" "g.2833200C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1326-98C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2831473C>T" "" "benign" "" "0000302090" "0" "10" "4" "2833523" "2833523" "subst" "0" "02326" "SH3BP2_000019" "g.2833523C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1434+117C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2831796C>T" "" "benign" "" "0000302091" "0" "30" "4" "2834080" "2834080" "subst" "0.00462147" "02326" "SH3BP2_000020" "g.2834080C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1429C>T (p.(Arg477Trp)), SH3BP2(NM_001145855.2):c.1513C>T (p.R505W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2832353C>T" "" "likely benign" "" "0000302093" "0" "10" "4" "2835412" "2835412" "subst" "0.000481363" "02326" "SH3BP2_000021" "g.2835412C>A" "" "" "" "SH3BP2(NM_001145855.2):c.1633-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2833685C>A" "" "benign" "" "0000302095" "0" "10" "4" "2826376" "2826376" "subst" "0.0141784" "02326" "SH3BP2_000004" "g.2826376C>T" "" "" "" "SH3BP2(NM_001145855.2):c.360C>T (p.N120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2824649C>T" "" "benign" "" "0000302096" "0" "10" "4" "2826912" "2826912" "subst" "0.0877359" "02326" "SH3BP2_000007" "g.2826912C>G" "" "" "" "SH3BP2(NM_001145855.2):c.501C>G (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2825185C>G" "" "benign" "" "0000302097" "0" "10" "4" "2828867" "2828867" "subst" "0" "02326" "SH3BP2_000008" "g.2828867C>T" "" "" "" "SH3BP2(NM_001145855.2):c.513-90C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2827140C>T" "" "benign" "" "0000302098" "0" "30" "4" "2828987" "2828987" "subst" "0.000235581" "02326" "SH3BP2_000009" "g.2828987C>T" "" "" "" "SH3BP2(NM_001145855.2):c.543C>T (p.Y181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2827260C>T" "" "likely benign" "" "0000302099" "0" "10" "4" "2828992" "2828992" "subst" "0.00529616" "02326" "SH3BP2_000010" "g.2828992C>T" "" "" "" "SH3BP2(NM_001122681.1):c.464C>T (p.(Ala155Val)), SH3BP2(NM_001145855.2):c.548C>T (p.A183V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2827265C>T" "" "benign" "" "0000302100" "0" "10" "4" "2829315" "2829315" "subst" "0.00378851" "02326" "SH3BP2_000011" "g.2829315C>A" "" "" "" "SH3BP2(NM_001145855.2):c.602-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2827588C>A" "" "benign" "" "0000302101" "0" "30" "4" "2814216" "2814216" "subst" "1.41435E-5" "02326" "SH3BP2_000026" "g.2814216G>A" "" "" "" "SH3BP2(NM_001145855.2):c.80+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2812489G>A" "" "likely benign" "" "0000302102" "0" "10" "4" "2831383" "2831383" "subst" "0.509024" "02326" "SH3BP2_000012" "g.2831383T>G" "" "" "" "SH3BP2(NM_001145855.2):c.834T>G (p.A278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2829656T>G" "" "benign" "" "0000308028" "0" "30" "4" "2831797" "2831797" "subst" "2.52383E-5" "01943" "SH3BP2_000016" "g.2831797G>A" "" "" "" "SH3BP2(NM_001145855.2):c.1248G>A (p.L416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2830070G>A" "" "likely benign" "" "0000308029" "0" "30" "4" "2835519" "2835519" "subst" "1.90017E-5" "01943" "SH3BP2_000023" "g.2835519C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1728C>T (p.S576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2833792C>T" "" "likely benign" "" "0000308030" "0" "30" "4" "2828987" "2828987" "subst" "0.000235581" "01943" "SH3BP2_000009" "g.2828987C>T" "" "" "" "SH3BP2(NM_001145855.2):c.543C>T (p.Y181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2827260C>T" "" "likely benign" "" "0000308031" "0" "30" "4" "2831538" "2831538" "subst" "4.07242E-6" "01943" "SH3BP2_000013" "g.2831538G>A" "" "" "" "SH3BP2(NM_001145855.2):c.989G>A (p.S330N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2829811G>A" "" "likely benign" "" "0000522426" "0" "50" "4" "2824764" "2824764" "subst" "0.000364038" "01943" "SH3BP2_000027" "g.2824764G>A" "" "" "" "SH3BP2(NM_001122681.2):c.239G>A (p.(Arg80Gln)), SH3BP2(NM_001145855.2):c.323G>A (p.R108Q), SH3BP2(NM_001145856.1):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2823037G>A" "" "VUS" "" "0000522427" "0" "10" "4" "2826218" "2826219" "ins" "0" "02326" "SH3BP2_000028" "g.2826218_2826219insA" "" "" "" "SH3BP2(NM_001145855.2):c.324-122_324-121insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824491_2824492insA" "" "benign" "" "0000522428" "0" "30" "4" "2826399" "2826399" "subst" "0.00107294" "01804" "SH3BP2_000005" "g.2826399A>G" "" "" "" "SH3BP2(NM_001122681.1):c.299A>G (p.(His100Arg)), SH3BP2(NM_001145855.2):c.383A>G (p.H128R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824672A>G" "" "likely benign" "" "0000522429" "0" "30" "4" "2826399" "2826399" "subst" "0.00107294" "02326" "SH3BP2_000005" "g.2826399A>G" "" "" "" "SH3BP2(NM_001122681.1):c.299A>G (p.(His100Arg)), SH3BP2(NM_001145855.2):c.383A>G (p.H128R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824672A>G" "" "likely benign" "" "0000522430" "0" "30" "4" "2826434" "2826434" "subst" "0" "01943" "SH3BP2_000029" "g.2826434G>T" "" "" "" "SH3BP2(NM_001145855.2):c.418G>T (p.A140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824707G>T" "" "likely benign" "" "0000522431" "0" "10" "4" "2826472" "2826472" "subst" "0.045583" "02326" "SH3BP2_000030" "g.2826472G>T" "" "" "" "SH3BP2(NM_001145855.2):c.441+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824745G>T" "" "benign" "" "0000522432" "0" "10" "4" "2829318" "2829318" "subst" "0.000597738" "02326" "SH3BP2_000031" "g.2829318C>G" "" "" "" "SH3BP2(NM_001145855.2):c.602-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2827591C>G" "" "benign" "" "0000522433" "0" "30" "4" "2829416" "2829416" "subst" "0" "02326" "SH3BP2_000032" "g.2829416T>G" "" "" "" "SH3BP2(NM_001145855.2):c.670+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2827689T>G" "" "likely benign" "" "0000522434" "0" "50" "4" "2831346" "2831346" "subst" "3.67918E-5" "02325" "SH3BP2_000033" "g.2831346C>T" "" "" "" "SH3BP2(NM_001145855.2):c.797C>T (p.P266L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2829619C>T" "" "VUS" "" "0000522435" "0" "30" "4" "2831353" "2831353" "subst" "0" "02326" "SH3BP2_000034" "g.2831353T>A" "" "" "" "SH3BP2(NM_001145855.2):c.804T>A (p.P268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2829626T>A" "" "likely benign" "" "0000522436" "0" "30" "4" "2831755" "2831755" "subst" "0.000522944" "01943" "SH3BP2_000035" "g.2831755C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1206C>T (p.P402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2830028C>T" "" "likely benign" "" "0000522437" "0" "30" "4" "2831894" "2831894" "subst" "0.000721015" "02326" "SH3BP2_000036" "g.2831894G>T" "" "" "" "SH3BP2(NM_001145855.2):c.1325+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2830167G>T" "" "likely benign" "" "0000522438" "0" "30" "4" "2833337" "2833337" "subst" "1.7714E-5" "02326" "SH3BP2_000037" "g.2833337C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1365C>T (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2831610C>T" "" "likely benign" "" "0000522439" "0" "30" "4" "2833382" "2833382" "subst" "1.99599E-5" "02326" "SH3BP2_000038" "g.2833382C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1410C>T (p.D470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2831655C>T" "" "likely benign" "" "0000522440" "0" "10" "4" "2834047" "2834047" "subst" "0.00503262" "02326" "SH3BP2_000039" "g.2834047T>A" "" "" "" "SH3BP2(NM_001145855.2):c.1491-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2832320T>A" "" "benign" "" "0000522441" "0" "10" "4" "2834080" "2834080" "subst" "0.00462147" "01804" "SH3BP2_000020" "g.2834080C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1429C>T (p.(Arg477Trp)), SH3BP2(NM_001145855.2):c.1513C>T (p.R505W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2832353C>T" "" "benign" "" "0000522442" "0" "50" "4" "2834113" "2834113" "subst" "3.24899E-5" "01943" "SH3BP2_000040" "g.2834113C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1546C>T (p.R516W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2832386C>T" "" "VUS" "" "0000522444" "0" "30" "4" "2834701" "2834701" "subst" "4.87389E-5" "02326" "SH3BP2_000042" "g.2834701C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1573-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2832974C>T" "" "likely benign" "" "0000522445" "0" "30" "4" "2834742" "2834742" "subst" "0.000633518" "02326" "SH3BP2_000043" "g.2834742C>G" "" "" "" "SH3BP2(NM_001145855.2):c.1598C>G (p.S533C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2833015C>G" "" "likely benign" "" "0000522446" "0" "30" "4" "2835419" "2835419" "dup" "0" "02326" "SH3BP2_000044" "g.2835419dup" "" "" "" "SH3BP2(NM_001145855.2):c.1633-5dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2833692dup" "" "likely benign" "" "0000522447" "0" "30" "4" "2835514" "2835514" "subst" "0" "01804" "SH3BP2_000045" "g.2835514C>A" "" "" "" "SH3BP2(NM_001122681.1):c.1639C>A (p.(Gln547Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2833787C>A" "" "likely benign" "" "0000522448" "0" "50" "4" "2835529" "2835529" "subst" "4.9142E-5" "01943" "SH3BP2_000046" "g.2835529C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1654C>T (p.(Arg552Trp)), SH3BP2(NM_001145855.2):c.1738C>T (p.R580W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2833802C>T" "" "VUS" "" "0000522449" "0" "30" "4" "2835540" "2835540" "subst" "8.80939E-5" "02326" "SH3BP2_000047" "g.2835540C>T" "" "" "" "SH3BP2(NM_001145855.2):c.1749C>T (p.Y583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2833813C>T" "" "likely benign" "" "0000609193" "0" "50" "4" "2824685" "2824685" "subst" "0" "02325" "SH3BP2_000048" "g.2824685C>A" "" "" "" "SH3BP2(NM_001145855.2):c.244C>A (p.H82N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2822958C>A" "" "VUS" "" "0000609194" "0" "50" "4" "2826347" "2826347" "subst" "8.14724E-6" "01943" "SH3BP2_000049" "g.2826347C>T" "" "" "" "SH3BP2(NM_003023.4):c.247C>T (p.R83W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824620C>T" "" "VUS" "" "0000609195" "0" "30" "4" "2826399" "2826399" "subst" "0.00107294" "02325" "SH3BP2_000005" "g.2826399A>G" "" "" "" "SH3BP2(NM_001122681.1):c.299A>G (p.(His100Arg)), SH3BP2(NM_001145855.2):c.383A>G (p.H128R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2824672A>G" "" "likely benign" "" "0000609196" "0" "30" "4" "2828969" "2828969" "subst" "0.000479421" "01943" "SH3BP2_000050" "g.2828969G>A" "" "" "" "SH3BP2(NM_001145855.2):c.525G>A (p.S175=), SH3BP2(NM_001145856.1):c.612G>A (p.S204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2827242G>A" "" "likely benign" "" "0000609197" "0" "30" "4" "2831233" "2831233" "subst" "4.06775E-6" "01943" "SH3BP2_000051" "g.2831233C>T" "" "" "" "SH3BP2(NM_001145855.2):c.684C>T (p.H228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2829506C>T" "" "likely benign" "" "0000609198" "0" "50" "4" "2831357" "2831357" "del" "0.000142864" "02325" "SH3BP2_000052" "g.2831357del" "" "" "" "SH3BP2(NM_001145855.2):c.808delC (p.H270Tfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2829630del" "" "VUS" "" "0000609199" "0" "30" "4" "2831583" "2831583" "subst" "1.6252E-5" "01804" "SH3BP2_000053" "g.2831583C>T" "" "" "" "SH3BP2(NM_001122681.1):c.950C>T (p.(Thr317Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2829856C>T" "" "likely benign" "" "0000609200" "0" "30" "4" "2833665" "2833665" "subst" "0.00036676" "02325" "SH3BP2_000055" "g.2833665T>C" "" "" "" "SH3BP2(NM_001145855.2):c.1450T>C (p.S484P), SH3BP2(NM_003023.4):c.1366T>C (p.S456P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2831938T>C" "" "likely benign" "" "0000609201" "0" "10" "4" "2834080" "2834080" "subst" "0.00462147" "02325" "SH3BP2_000020" "g.2834080C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1429C>T (p.(Arg477Trp)), SH3BP2(NM_001145855.2):c.1513C>T (p.R505W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2832353C>T" "" "benign" "" "0000621389" "0" "30" "4" "2831836" "2831836" "subst" "0" "02326" "SH3BP2_000054" "g.2831836C>A" "" "" "" "SH3BP2(NM_001145855.2):c.1287C>A (p.V429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2830109C>A" "" "likely benign" "" "0000651470" "1" "30" "4" "2822423" "2822423" "subst" "0.000215274" "03575" "SH3BP2_000056" "g.2822423G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs200207198}" "Germline" "" "rs200207198" "0" "" "" "g.2820696G>A" "" "likely benign" "" "0000655138" "0" "30" "4" "2824764" "2824764" "subst" "0.000364038" "02325" "SH3BP2_000027" "g.2824764G>A" "" "" "" "SH3BP2(NM_001122681.2):c.239G>A (p.(Arg80Gln)), SH3BP2(NM_001145855.2):c.323G>A (p.R108Q), SH3BP2(NM_001145856.1):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2823037G>A" "" "likely benign" "" "0000655139" "0" "50" "4" "2829000" "2829000" "subst" "0.000142134" "01943" "SH3BP2_000057" "g.2829000C>T" "" "" "" "SH3BP2(NM_001145856.1):c.643C>T (p.R215W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2827273C>T" "" "VUS" "" "0000655140" "0" "50" "4" "2829347" "2829347" "subst" "0" "02325" "SH3BP2_000058" "g.2829347G>A" "" "" "" "SH3BP2(NM_001145855.2):c.616G>A (p.D206N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2827620G>A" "" "VUS" "" "0000655141" "0" "50" "4" "2831860" "2831868" "dup" "0" "02325" "SH3BP2_000059" "g.2831860_2831868dup" "" "" "" "SH3BP2(NM_001145855.2):c.1311_1319dupGCTCCCGCA (p.Q437_P439dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2830133_2830141dup" "" "VUS" "" "0000655142" "0" "30" "4" "2833665" "2833665" "subst" "0.00036676" "01943" "SH3BP2_000055" "g.2833665T>C" "" "" "" "SH3BP2(NM_001145855.2):c.1450T>C (p.S484P), SH3BP2(NM_003023.4):c.1366T>C (p.S456P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2831938T>C" "" "likely benign" "" "0000677263" "0" "30" "4" "2828969" "2828969" "subst" "0.000479421" "02326" "SH3BP2_000050" "g.2828969G>A" "" "" "" "SH3BP2(NM_001145855.2):c.525G>A (p.S175=), SH3BP2(NM_001145856.1):c.612G>A (p.S204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677264" "0" "30" "4" "2828992" "2828992" "subst" "0.00529616" "01804" "SH3BP2_000010" "g.2828992C>T" "" "" "" "SH3BP2(NM_001122681.1):c.464C>T (p.(Ala155Val)), SH3BP2(NM_001145855.2):c.548C>T (p.A183V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689289" "0" "30" "4" "2824774" "2824774" "subst" "1.65334E-5" "01943" "SH3BP2_000060" "g.2824774C>T" "" "" "" "SH3BP2(NM_003023.4):c.239+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689290" "0" "30" "4" "2833719" "2833719" "subst" "6.52667E-5" "02326" "SH3BP2_000061" "g.2833719C>A" "" "" "" "SH3BP2(NM_001145855.2):c.1490+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719890" "0" "30" "4" "2822423" "2822423" "subst" "0.000215274" "02325" "SH3BP2_000056" "g.2822423G>A" "" "" "" "SH3BP2(NM_003023.4):c.79G>A (p.V27M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719891" "0" "30" "4" "2826347" "2826347" "subst" "5.70307E-5" "02326" "SH3BP2_000062" "g.2826347C>A" "" "" "" "SH3BP2(NM_001145855.2):c.331C>A (p.R111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719892" "0" "30" "4" "2831321" "2831321" "subst" "1.63312E-5" "02326" "SH3BP2_000063" "g.2831321G>T" "" "" "" "SH3BP2(NM_001145855.2):c.772G>T (p.G258C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801628" "0" "30" "4" "2831492" "2831492" "subst" "0" "01943" "SH3BP2_000064" "g.2831492A>T" "" "" "" "SH3BP2(NM_003023.4):c.859A>T (p.T287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801629" "0" "30" "4" "2831494" "2831494" "subst" "8.1668E-6" "01943" "SH3BP2_000065" "g.2831494C>T" "" "" "" "SH3BP2(NM_003023.4):c.861C>T (p.T287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801630" "0" "50" "4" "2835529" "2835529" "subst" "4.9142E-5" "01804" "SH3BP2_000046" "g.2835529C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1654C>T (p.(Arg552Trp)), SH3BP2(NM_001145855.2):c.1738C>T (p.R580W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801631" "0" "50" "4" "2835561" "2835561" "subst" "0.000592937" "01943" "SH3BP2_000024" "g.2835561A>G" "" "" "" "SH3BP2(NM_001122681.1):c.1686A>G (p.(*562Trpext*30)), SH3BP2(NM_001145855.2):c.1770A>G (p.*590Wext*30), SH3BP2(NM_003023.4):c.1686A>G (p.*562Wext*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850596" "0" "30" "4" "2831498" "2831498" "subst" "4.08197E-6" "01943" "SH3BP2_000067" "g.2831498C>T" "" "" "" "SH3BP2(NM_003023.4):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850597" "0" "30" "4" "2834112" "2834112" "subst" "1.21837E-5" "02326" "SH3BP2_000069" "g.2834112C>T" "" "" "" "SH3BP2(NM_003023.4):c.1461C>T (p.I487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859411" "0" "50" "4" "2826416" "2826416" "subst" "1.21965E-5" "01943" "SH3BP2_000066" "g.2826416C>T" "" "" "" "SH3BP2(NM_003023.4):c.316C>T (p.R106C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859413" "0" "30" "4" "2833348" "2833348" "subst" "0" "01943" "SH3BP2_000068" "g.2833348C>T" "" "" "" "SH3BP2(NM_001122681.2):c.1292C>T (p.(Pro431Leu)), SH3BP2(NM_003023.4):c.1292C>T (p.P431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859414" "0" "30" "4" "2835561" "2835561" "subst" "0.000592937" "01804" "SH3BP2_000024" "g.2835561A>G" "" "" "" "SH3BP2(NM_001122681.1):c.1686A>G (p.(*562Trpext*30)), SH3BP2(NM_001145855.2):c.1770A>G (p.*590Wext*30), SH3BP2(NM_003023.4):c.1686A>G (p.*562Wext*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886257" "0" "30" "4" "2829394" "2829394" "subst" "0" "01804" "SH3BP2_000070" "g.2829394G>C" "" "" "" "SH3BP2(NM_001122681.1):c.579G>C (p.(Arg193Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886258" "0" "30" "4" "2831389" "2831389" "subst" "4.48237E-5" "02326" "SH3BP2_000071" "g.2831389G>A" "" "" "" "SH3BP2(NM_003023.4):c.756G>A (p.E252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886259" "0" "50" "4" "2831565" "2831565" "subst" "2.03257E-5" "01804" "SH3BP2_000072" "g.2831565G>A" "" "" "" "SH3BP2(NM_001122681.1):c.932G>A (p.(Gly311Asp)), SH3BP2(NM_003023.4):c.932G>A (p.G311D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886260" "0" "30" "4" "2831565" "2831565" "subst" "2.03257E-5" "02326" "SH3BP2_000072" "g.2831565G>A" "" "" "" "SH3BP2(NM_001122681.1):c.932G>A (p.(Gly311Asp)), SH3BP2(NM_003023.4):c.932G>A (p.G311D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886261" "0" "30" "4" "2833665" "2833665" "subst" "0.00036676" "02326" "SH3BP2_000055" "g.2833665T>C" "" "" "" "SH3BP2(NM_001145855.2):c.1450T>C (p.S484P), SH3BP2(NM_003023.4):c.1366T>C (p.S456P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886262" "0" "30" "4" "2833666" "2833666" "subst" "8.55906E-5" "02325" "SH3BP2_000073" "g.2833666C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1367C>T (p.(Ser456Leu)), SH3BP2(NM_003023.4):c.1367C>T (p.S456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912109" "0" "50" "4" "2826895" "2826895" "subst" "0" "02325" "SH3BP2_000074" "g.2826895G>A" "" "" "" "SH3BP2(NM_003023.4):c.400G>A (p.E134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912110" "0" "10" "4" "2831434" "2831434" "subst" "0.00237763" "02326" "SH3BP2_000075" "g.2831434C>T" "" "" "" "SH3BP2(NM_003023.4):c.801C>T (p.C267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924109" "0" "30" "4" "2829343" "2829343" "subst" "5.99592E-5" "02326" "SH3BP2_000076" "g.2829343C>T" "" "" "" "SH3BP2(NM_003023.4):c.528C>T (p.H176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924110" "0" "30" "4" "2829350" "2829350" "subst" "0" "02326" "SH3BP2_000077" "g.2829350G>A" "" "" "" "SH3BP2(NM_003023.4):c.535G>A (p.E179K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924111" "0" "30" "4" "2833412" "2833412" "subst" "3.55146E-5" "02326" "SH3BP2_000078" "g.2833412G>A" "" "" "" "SH3BP2(NM_003023.4):c.1350+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928901" "0" "30" "4" "2828941" "2828941" "subst" "0" "02326" "SH3BP2_000080" "g.2828941G>T" "" "" "" "SH3BP2(NM_003023.4):c.429-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928902" "0" "30" "4" "2831774" "2831774" "subst" "0.000236994" "02325" "SH3BP2_000081" "g.2831774G>A" "" "" "" "SH3BP2(NM_003023.4):c.1141G>A (p.V381M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928903" "0" "30" "4" "2833637" "2833637" "subst" "1.22498E-5" "02326" "SH3BP2_000082" "g.2833637C>T" "" "" "" "SH3BP2(NM_003023.4):c.1351-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963142" "0" "50" "4" "2831570" "2831570" "subst" "0.000886071" "01943" "SH3BP2_000014" "g.2831570G>A" "" "" "" "SH3BP2(NM_001145855.2):c.1021G>A (p.G341R), SH3BP2(NM_001145856.1):c.1108G>A (p.G370R), SH3BP2(NM_003023.4):c.937G>A (p.G313R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963143" "0" "50" "4" "2833351" "2833351" "subst" "0" "02327" "SH3BP2_000083" "g.2833351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976269" "0" "30" "4" "2829375" "2829375" "subst" "3.29108E-5" "01804" "SH3BP2_000084" "g.2829375A>G" "" "" "" "SH3BP2(NM_001122681.2):c.560A>G (p.(Asp187Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976270" "0" "30" "4" "2829381" "2829381" "subst" "6.70639E-5" "01804" "SH3BP2_000085" "g.2829381C>T" "" "" "" "SH3BP2(NM_001122681.2):c.566C>T (p.(Pro189Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976271" "0" "50" "4" "2829399" "2829399" "subst" "0" "01804" "SH3BP2_000086" "g.2829399A>C" "" "" "" "SH3BP2(NM_001122681.2):c.584A>C (p.(Glu195Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994256" "0" "50" "4" "2822390" "2822390" "subst" "4.06108E-6" "02325" "SH3BP2_000087" "g.2822390G>A" "" "" "" "SH3BP2(NM_003023.4):c.46G>A (p.G16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994257" "0" "50" "4" "2831238" "2831238" "subst" "8.1365E-6" "01804" "SH3BP2_000088" "g.2831238C>T" "" "" "" "SH3BP2(NM_001122681.1):c.605C>T (p.(Pro202Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994258" "0" "30" "4" "2831664" "2831664" "subst" "1.62617E-5" "01804" "SH3BP2_000089" "g.2831664C>A" "" "" "" "SH3BP2(NM_001122681.1):c.1031C>A (p.(Pro344Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994259" "0" "50" "4" "2831742" "2831742" "del" "0" "01804" "SH3BP2_000090" "g.2831742del" "" "" "" "SH3BP2(NM_001122681.1):c.1109delA (p.(Glu370fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994260" "0" "30" "4" "2831823" "2831823" "subst" "0" "01804" "SH3BP2_000091" "g.2831823C>G" "" "" "" "SH3BP2(NM_001122681.1):c.1190C>G (p.(Ala397Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994261" "0" "30" "4" "2831856" "2831856" "subst" "3.50945E-5" "01804" "SH3BP2_000092" "g.2831856C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1223C>T (p.(Pro408Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994262" "0" "50" "4" "2833666" "2833666" "subst" "8.55906E-5" "01804" "SH3BP2_000073" "g.2833666C>T" "" "" "" "SH3BP2(NM_001122681.1):c.1367C>T (p.(Ser456Leu)), SH3BP2(NM_003023.4):c.1367C>T (p.S456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034512" "0" "30" "4" "2822487" "2822498" "del" "0" "01804" "SH3BP2_000093" "g.2822487_2822498del" "" "" "" "SH3BP2(NM_001122681.2):c.136+7_136+18del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034513" "0" "30" "4" "2824764" "2824764" "subst" "0.000364038" "01804" "SH3BP2_000027" "g.2824764G>A" "" "" "" "SH3BP2(NM_001122681.2):c.239G>A (p.(Arg80Gln)), SH3BP2(NM_001145855.2):c.323G>A (p.R108Q), SH3BP2(NM_001145856.1):c.410G>A (p.R137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034514" "0" "50" "4" "2826422" "2826422" "subst" "0" "01804" "SH3BP2_000094" "g.2826422T>C" "" "" "" "SH3BP2(NM_001122681.2):c.322T>C (p.(Trp108Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034515" "0" "50" "4" "2826453" "2826453" "subst" "3.66775E-5" "01804" "SH3BP2_000095" "g.2826453G>A" "" "" "" "SH3BP2(NM_001122681.2):c.353G>A (p.(Arg118His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034516" "0" "50" "4" "2829339" "2829339" "subst" "0" "02325" "SH3BP2_000096" "g.2829339A>G" "" "" "" "SH3BP2(NM_003023.4):c.524A>G (p.E175G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034517" "0" "30" "4" "2831756" "2831756" "subst" "0.000168891" "01804" "SH3BP2_000097" "g.2831756G>A" "" "" "" "SH3BP2(NM_001122681.2):c.1123G>A (p.(Gly375Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034518" "0" "30" "4" "2831784" "2831784" "subst" "0.000397234" "01804" "SH3BP2_000098" "g.2831784G>A" "" "" "" "SH3BP2(NM_001122681.2):c.1151G>A (p.(Arg384Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034519" "0" "30" "4" "2833369" "2833369" "subst" "0" "01804" "SH3BP2_000099" "g.2833369A>G" "" "" "" "SH3BP2(NM_001122681.2):c.1313A>G (p.(Asp438Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034520" "0" "50" "4" "2833399" "2833399" "subst" "0" "01804" "SH3BP2_000100" "g.2833399A>T" "" "" "" "SH3BP2(NM_001122681.2):c.1343A>T (p.(Tyr448Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051651" "0" "50" "4" "2814050" "2814050" "subst" "0" "01804" "SH3BP2_000101" "g.2814050G>A" "" "" "" "SH3BP2(NM_001145855.2):c.-75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051652" "0" "50" "4" "2831526" "2831526" "subst" "1.63008E-5" "01804" "SH3BP2_000102" "g.2831526G>A" "" "" "" "SH3BP2(NM_001122681.2):c.893G>A (p.(Arg298Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051653" "0" "30" "4" "2833336" "2833338" "del" "0" "01804" "SH3BP2_000103" "g.2833336_2833338del" "" "" "" "SH3BP2(NM_001122681.2):c.1280_1282del (p.(Ser427del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051654" "0" "30" "4" "2833348" "2833348" "subst" "0" "01804" "SH3BP2_000068" "g.2833348C>T" "" "" "" "SH3BP2(NM_001122681.2):c.1292C>T (p.(Pro431Leu)), SH3BP2(NM_003023.4):c.1292C>T (p.P431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051655" "0" "50" "4" "2835541" "2835541" "subst" "9.08391E-5" "01804" "SH3BP2_000104" "g.2835541G>A" "" "" "" "SH3BP2(NM_001122681.2):c.1666G>A (p.(Gly556Ser))" "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 SH3BP2 ## Count = 122 "{{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}}" "0000079605" "00018840" "00" "-2749250" "0" "541762" "0" "c.-2749250_*540076del" "r.0?" "p.0?" "" "0000128867" "00018840" "50" "1442" "0" "1442" "0" "c.1442A>T" "r.(?)" "p.(Gln481Leu)" "11" "0000132595" "00018840" "50" "1442" "0" "1442" "0" "c.1442A>T" "r.(?)" "p.(Gln481Leu)" "11" "0000251013" "00018840" "10" "-6654" "0" "-6654" "0" "c.-6654A>G" "r.(?)" "p.(=)" "" "0000251875" "00018840" "30" "1084" "0" "1084" "0" "c.1084A>G" "r.(?)" "p.(Ile362Val)" "" "0000252644" "00018840" "50" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ter562TrpextTer30)" "" "0000255970" "00018840" "50" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(His100Arg)" "" "0000298188" "00018840" "10" "123" "0" "123" "0" "c.123G>T" "r.(?)" "p.(Leu41=)" "" "0000298189" "00018840" "10" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(His100=)" "" "0000298190" "00018840" "10" "750" "0" "750" "0" "c.750T>G" "r.(?)" "p.(Ala250=)" "" "0000302087" "00018840" "30" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Gly313Arg)" "" "0000302088" "00018840" "10" "1242" "-98" "1242" "-98" "c.1242-98C>T" "r.(=)" "p.(=)" "" "0000302090" "00018840" "10" "1350" "117" "1350" "117" "c.1350+117C>T" "r.(=)" "p.(=)" "" "0000302091" "00018840" "30" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Trp)" "" "0000302093" "00018840" "10" "1549" "-12" "1549" "-12" "c.1549-12C>A" "r.(=)" "p.(=)" "" "0000302095" "00018840" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Asn92=)" "" "0000302096" "00018840" "10" "417" "0" "417" "0" "c.417C>G" "r.(?)" "p.(Pro139=)" "" "0000302097" "00018840" "10" "429" "-90" "429" "-90" "c.429-90C>T" "r.(=)" "p.(=)" "" "0000302098" "00018840" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Tyr153=)" "" "0000302099" "00018840" "10" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ala155Val)" "" "0000302100" "00018840" "10" "518" "-18" "518" "-18" "c.518-18C>A" "r.(=)" "p.(=)" "" "0000302101" "00018840" "30" "-6586" "0" "-6586" "0" "c.-6586G>A" "r.(?)" "p.(=)" "" "0000302102" "00018840" "10" "750" "0" "750" "0" "c.750T>G" "r.(?)" "p.(Ala250=)" "" "0000308028" "00018840" "30" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Leu388=)" "" "0000308029" "00018840" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Ser548=)" "" "0000308030" "00018840" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Tyr153=)" "" "0000308031" "00018840" "30" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Ser302Asn)" "" "0000522426" "00018840" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000522427" "00018840" "10" "240" "-122" "240" "-121" "c.240-122_240-121insA" "r.(=)" "p.(=)" "" "0000522428" "00018840" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(His100Arg)" "" "0000522429" "00018840" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(His100Arg)" "" "0000522430" "00018840" "30" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Ala112Ser)" "" "0000522431" "00018840" "10" "357" "15" "357" "15" "c.357+15G>T" "r.(=)" "p.(=)" "" "0000522432" "00018840" "10" "518" "-15" "518" "-15" "c.518-15C>G" "r.(=)" "p.(=)" "" "0000522433" "00018840" "30" "586" "15" "586" "15" "c.586+15T>G" "r.(=)" "p.(=)" "" "0000522434" "00018840" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "0000522435" "00018840" "30" "720" "0" "720" "0" "c.720T>A" "r.(?)" "p.(Pro240=)" "" "0000522436" "00018840" "30" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Pro374=)" "" "0000522437" "00018840" "30" "1241" "20" "1241" "20" "c.1241+20G>T" "r.(=)" "p.(=)" "" "0000522438" "00018840" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Ser427=)" "" "0000522439" "00018840" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Asp442=)" "" "0000522440" "00018840" "10" "1407" "-11" "1407" "-11" "c.1407-11T>A" "r.(=)" "p.(=)" "" "0000522441" "00018840" "10" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Trp)" "" "0000522442" "00018840" "50" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Trp)" "" "0000522444" "00018840" "30" "1489" "-16" "1489" "-16" "c.1489-16C>T" "r.(=)" "p.(=)" "" "0000522445" "00018840" "30" "1514" "0" "1514" "0" "c.1514C>G" "r.(?)" "p.(Ser505Cys)" "" "0000522446" "00018840" "30" "1549" "-5" "1549" "-5" "c.1549-5dup" "r.spl?" "p.?" "" "0000522447" "00018840" "30" "1639" "0" "1639" "0" "c.1639C>A" "r.(?)" "p.(Gln547Lys)" "" "0000522448" "00018840" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Trp)" "" "0000522449" "00018840" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Tyr555=)" "" "0000609193" "00018840" "50" "160" "0" "160" "0" "c.160C>A" "r.(?)" "p.(His54Asn)" "" "0000609194" "00018840" "50" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Trp)" "" "0000609195" "00018840" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(His100Arg)" "" "0000609196" "00018840" "30" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ser147=)" "" "0000609197" "00018840" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(His200=)" "" "0000609198" "00018840" "50" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(His242ThrfsTer36)" "" "0000609199" "00018840" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Thr317Ile)" "" "0000609200" "00018840" "30" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Ser456Pro)" "" "0000609201" "00018840" "10" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Trp)" "" "0000621389" "00018840" "30" "1203" "0" "1203" "0" "c.1203C>A" "r.(?)" "p.(Val401=)" "" "0000651470" "00018840" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Met)" "" "0000655138" "00018840" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000655139" "00018840" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000655140" "00018840" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Asp178Asn)" "" "0000655141" "00018840" "50" "1227" "0" "1235" "0" "c.1227_1235dup" "r.(?)" "p.(Gln409_Pro411dup)" "" "0000655142" "00018840" "30" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Ser456Pro)" "" "0000677263" "00018840" "30" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ser147=)" "" "0000677264" "00018840" "30" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ala155Val)" "" "0000689289" "00018840" "30" "239" "10" "239" "10" "c.239+10C>T" "r.(=)" "p.(=)" "" "0000689290" "00018840" "30" "1406" "14" "1406" "14" "c.1406+14C>A" "r.(=)" "p.(=)" "" "0000719890" "00018840" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Met)" "" "0000719891" "00018840" "30" "247" "0" "247" "0" "c.247C>A" "r.(?)" "p.(Arg83=)" "" "0000719892" "00018840" "30" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230Cys)" "" "0000801628" "00018840" "30" "859" "0" "859" "0" "c.859A>T" "r.(?)" "p.(Thr287Ser)" "" "0000801629" "00018840" "30" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Thr287=)" "" "0000801630" "00018840" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Trp)" "" "0000801631" "00018840" "50" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ter562TrpextTer30)" "" "0000850596" "00018840" "30" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" "0000850597" "00018840" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ile487=)" "" "0000859411" "00018840" "50" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000859413" "00018840" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000859414" "00018840" "30" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Ter562TrpextTer30)" "" "0000886257" "00018840" "30" "579" "0" "579" "0" "c.579G>C" "r.(?)" "p.(Arg193Ser)" "" "0000886258" "00018840" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Glu252=)" "" "0000886259" "00018840" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Gly311Asp)" "" "0000886260" "00018840" "30" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Gly311Asp)" "" "0000886261" "00018840" "30" "1366" "0" "1366" "0" "c.1366T>C" "r.(?)" "p.(Ser456Pro)" "" "0000886262" "00018840" "30" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Leu)" "" "0000912109" "00018840" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "" "0000912110" "00018840" "10" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Cys267=)" "" "0000924109" "00018840" "30" "528" "0" "528" "0" "c.528C>T" "r.(?)" "p.(His176=)" "" "0000924110" "00018840" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Glu179Lys)" "" "0000924111" "00018840" "30" "1350" "6" "1350" "6" "c.1350+6G>A" "r.(=)" "p.(=)" "" "0000928901" "00018840" "30" "429" "-16" "429" "-16" "c.429-16G>T" "r.(=)" "p.(=)" "" "0000928902" "00018840" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Val381Met)" "" "0000928903" "00018840" "30" "1351" "-13" "1351" "-13" "c.1351-13C>T" "r.(=)" "p.(=)" "" "0000963142" "00018840" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Gly313Arg)" "" "0000963143" "00018840" "50" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Arg432Gln)" "" "0000976269" "00018840" "30" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asp187Gly)" "" "0000976270" "00018840" "30" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" "" "0000976271" "00018840" "50" "584" "0" "584" "0" "c.584A>C" "r.(?)" "p.(Glu195Ala)" "" "0000994256" "00018840" "50" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Gly16Ser)" "" "0000994257" "00018840" "50" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Pro202Leu)" "" "0000994258" "00018840" "30" "1031" "0" "1031" "0" "c.1031C>A" "r.(?)" "p.(Pro344Gln)" "" "0000994259" "00018840" "50" "1109" "0" "1109" "0" "c.1109del" "r.(?)" "p.(Glu370Glyfs*19)" "" "0000994260" "00018840" "30" "1190" "0" "1190" "0" "c.1190C>G" "r.(?)" "p.(Ala397Gly)" "" "0000994261" "00018840" "30" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Pro408Leu)" "" "0000994262" "00018840" "50" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Leu)" "" "0001034512" "00018840" "30" "136" "7" "136" "18" "c.136+7_136+18del" "r.(=)" "p.(=)" "" "0001034513" "00018840" "30" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0001034514" "00018840" "50" "322" "0" "322" "0" "c.322T>C" "r.(?)" "p.(Trp108Arg)" "" "0001034515" "00018840" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0001034516" "00018840" "50" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(Glu175Gly)" "" "0001034517" "00018840" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Arg)" "" "0001034518" "00018840" "30" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Gln)" "" "0001034519" "00018840" "30" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(Asp438Gly)" "" "0001034520" "00018840" "50" "1343" "0" "1343" "0" "c.1343A>T" "r.(?)" "p.(Tyr448Phe)" "" "0001051651" "00018840" "50" "-6752" "0" "-6752" "0" "c.-6752G>A" "r.(?)" "p.(=)" "" "0001051652" "00018840" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298Gln)" "" "0001051653" "00018840" "30" "1280" "0" "1282" "0" "c.1280_1282del" "r.(?)" "p.(Ser427del)" "" "0001051654" "00018840" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0001051655" "00018840" "50" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Gly556Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000050625" "0000079605" "0000079992" "0000128867" "0000081892" "0000132595" "0000294781" "0000651470"