### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SH3PXD2B) # 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}}" "SH3PXD2B" "SH3 and PX domains 2B" "5" "q35.2" "unknown" "NC_000005.9" "UD_132119041294" "" "https://www.LOVD.nl/SH3PXD2B" "" "1" "29242" "285590" "613293" "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/SH3PXD2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-01-30 15:04:41" "00006" "2026-01-31 12:48:31" ## 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}}" "00018855" "SH3PXD2B" "SH3 and PX domains 2B" "001" "NM_001017995.2" "" "NP_001017995.1" "" "" "" "-171" "7606" "2736" "171881527" "171760503" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00618" "FTHS" "Frank-ter Haar syndrome (FTHS)" "AR" "249420" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-29 16:13:42" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SH3PXD2B" "00139" "SH3PXD2B" "00618" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00311872" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "F" "yes" "" "" "0" "" "" "" "BAB8759/BH9282_1" "00331565" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "15DG0603" "00472295" "" "" "" "1" "" "00006" "{PMID:Iqbal 2010:20137777}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "Fam1Pat1" "00472296" "" "" "" "2" "" "00006" "{PMID:Ter Haar 1982:7158646}, {PMID:Iqbal 2010:20137777}" "12-generation family, 4 affected, unaffected heterozygous carrier parents" "M" "yes" "Netherlands" "" "0" "" "" "" "Fam2Pat1(XI2)" "00472297" "" "" "00472296" "1" "" "00006" "{PMID:Ter Haar 1982:7158646}, {PMID:Iqbal 2010:20137777}" "relative" "M" "yes" "Netherlands" "" "0" "" "" "" "Fam2Pat2(X!!2)" "00472301" "" "" "" "1" "" "00006" "{PMID:Maas2004:15523657}, {PMID:Iqbal 2010:20137777}" "5-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam6Pat1" "00472302" "" "" "" "2" "" "00006" "{PMID:Iqbal 2010:20137777}" "4-generation family, affected brother/sister" "M" "yes" "Lebanon" "" "0" "" "" "" "Fam7Pat1" "00472303" "" "" "00472302" "1" "" "00006" "{PMID:Iqbal 2010:20137777}" "sister" "F" "yes" "Lebanon" "" "0" "" "" "" "Fam7Pat2" "00472305" "" "" "" "2" "" "00006" "{PMID:Iqbal 2010:20137777}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Arab" "Fam9Pat1" "00472306" "" "" "00472305" "1" "" "00006" "{PMID:Iqbal 2010:20137777}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam9Pat2" "00472310" "" "" "" "1" "" "00006" "{PMID:Iqbal 2010:20137777}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Turkey" "" "0" "" "" "" "Fam12Pat1" "00472311" "" "" "" "1" "" "00006" "{PMID:Iqbal 2010:20137777}" "2-generation family, 1 affected, unaffected parents (carrier father)" "M" "yes" "Israel" "" "0" "" "" "" "Fam13Pat1" "00472312" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24105366}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Australia" "8y" "0" "" "" "" "BDCS1Pat17" "00472315" "" "" "" "2" "" "00006" "{PMID:Wilson 2014:24105366}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "BDCS3Pat3" "00472316" "" "" "00472315" "1" "" "00006" "{PMID:Wilson 2014:24105366}" "brother" "M" "" "Italy" "24y" "0" "" "" "" "BDCS3Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00311872" "00180" "00311872" "00618" "00331565" "05517" "00472295" "00618" "00472296" "00618" "00472297" "00618" "00472301" "00618" "00472302" "00618" "00472303" "00618" "00472305" "00618" "00472306" "00618" "00472310" "00618" "00472311" "00618" "00472312" "00618" "00472315" "00618" "00472316" "00618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00180, 00618, 05517 ## Count = 16 "{{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}}" "0000237120" "00180" "00311872" "00006" "Familial, autosomal dominant" "00y00m12d" "12d-prominent forehead, flat occiput, micrognathia, prominent eyes, hypertelorism, downslanting palpebral fissures, flat nasal bridge, nuchal edema, congenital pes equinovarus, congenital atrioventricular septal defect, recurrent respiratory infections; deceased" "" "" "" "" "" "" "" "OPSMD" "Robinow syndrome" "0000237124" "00618" "00311872" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000249757" "05517" "00331565" "00000" "Familial, autosomal recessive" "" "Megalocornea, Congenital cataract, Congenital glaucoma, Failure to thrive, Global developYes" "" "" "" "" "" "" "" "Filamin group and related disorders" "skeletal dysplasia" "0000357098" "00618" "00472295" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; flexion deformity fingers; club feet; double right outlet" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357099" "00618" "00472296" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; broad mouth; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; mitral valve anomaly" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357100" "00618" "00472297" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; prominent eyes; full cheeks; anteverted nostrils; broad mouth; micrognathia; protruding ears; no kyphosis; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; no club feet; double right outlet" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357104" "00618" "00472301" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; broad alveolar ridges; no micrognathia; protruding ears; no kyphosis; prominent coccyx; no bowing long bones; short hands; flexion deformity fingers; pes adductus; mitral valve anomaly; no double right outlet; ventricular septal defect; gall stones" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357105" "00618" "00472302" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; no ventricular septal defect" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357106" "00618" "00472303" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; prominent coccyx; bowing long bones; short hands; no flexion deformity fingers; club feet; ventricular septal defect" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357108" "00618" "00472305" "00006" "Familial, autosomal recessive" "" "see paper; ..., no motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; no broad alveolar ridges; micrognathia; kyphosis; no prominent coccyx; no bowing long bones; short hands; no flexion deformity fingers; no mitral valve anomaly; no ventricular septal defect" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357109" "00618" "00472306" "00006" "Familial, autosomal recessive" "" "see paper; ..., prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; no broad alveolar ridges; micrognathia; no kyphosis; no prominent coccyx; no bowing long bones; short hands; no flexion deformity fingers; no mitral valve anomaly; ventricular septal defect" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357113" "00618" "00472310" "00006" "Familial, autosomal recessive" "" "see paper; ..., prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; tetinal detachment, 7y-sudden vision loss; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; kyphosis; prominent coccyx; severe genu valgum, dislocated left knee, bilateral hips, both elbows; short hands; no flexion deformity fingers; pes valgus.; cardiomegaly, severe mitral and aortic valve prolapsed; ventricular septal defect" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357114" "00618" "00472311" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor retardation; prominent forehead; brachycephaly; wide anterior fontanel; hypertelorism; no congenital glaucoma; large cornea; prominent eyes; full cheeks; anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; protruding ears; kyphosis; prominent coccyx; bowing long bones; short hands; flexion deformity fingers; club feet; no mitral valve anomaly; ventricular septal defect, atrial septal defect, patent ductus arteriosis" "" "" "" "" "" "" "" "FTHS" "Frank-Ter Haar syndrome" "0000357115" "00618" "00472312" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., 8y-deceased; no motor retardation; no acne; coarse face, thick skin; gingival enlargement; prominent forehead; brachycephaly; hypertelorism; no congenital glaucoma; no large cornea; prominent eyes; full cheeks; no anteverted nostrils; broad mouth; broad alveolar ridges; micrognathia; no protruding ears; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; bowing long bones; short hands; flexion deformity; club feet; osteopenia; genu valgum; radial head dislocation; thoracic wall deformity; thickened interphalangeal joints" "" "" "" "" "" "" "" "FTHS" "Borrone Dermato-Cardio-Skeletal syndrome" "0000357118" "00618" "00472315" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., no motor retardation; acne; coarse face, thick skin; gingival enlargement; prominent forehead; brachycephaly; hypertelorism; full cheeks; anteverted nostrils; broad mouth; micrognathia; protruding ears; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; bowing long bones; short hands; flexion deformity; no club feet; cortical erosions; osteoporosis; osteolytic lesions; arthropathy; irregular tongue; inguinal hernia; genu recurvatum" "" "" "" "" "" "" "" "FTHS" "Borrone Dermato-Cardio-Skeletal syndrome" "0000357119" "00618" "00472316" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., 24y-deceased; no motor retardation; acne; coarse face, thick skin; gingival enlargement; prominent forehead; hypertelorism; full cheeks; anteverted nostrils; broad mouth; micrognathia; mitral valve anomaly; no double right outlet; no ventricular septal defect; vertebral anomalies; no prominent coccyx; no bowing long bones; short hands; flexion deformity; no club feet; cortical erosions; osteoporosis" "" "" "" "" "" "" "" "FTHS" "Borrone Dermato-Cardio-Skeletal syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000313044" "00311872" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000332784" "00331565" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473965" "00472295" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473966" "00472296" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473967" "00472297" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473971" "00472301" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473972" "00472302" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "PCRq;SEQ" "DNA" "" "" "0000473973" "00472303" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "PCRq;SEQ" "DNA" "" "" "0000473975" "00472305" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473976" "00472306" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473980" "00472310" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473981" "00472311" "1" "00006" "00006" "2026-01-31 12:03:29" "" "" "SEQ" "DNA" "" "" "0000473982" "00472312" "1" "00006" "00006" "2026-01-31 12:48:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473985" "00472315" "1" "00006" "00006" "2026-01-31 12:48:28" "" "" "SEQ" "DNA" "" "" "0000473986" "00472316" "1" "00006" "00006" "2026-01-31 12:48:28" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000313044" "INPPL1" "0000313044" "SH3PXD2B" "0000332784" "SH3PXD2B" "0000473965" "SH3PXD2B" "0000473966" "SH3PXD2B" "0000473967" "SH3PXD2B" "0000473971" "SH3PXD2B" "0000473972" "SH3PXD2B" "0000473973" "SH3PXD2B" "0000473975" "SH3PXD2B" "0000473976" "SH3PXD2B" "0000473980" "SH3PXD2B" "0000473981" "SH3PXD2B" "0000473985" "SH3PXD2B" "0000473986" "SH3PXD2B" ## 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 = 78 "{{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}}" "0000254965" "0" "30" "5" "171809102" "171809102" "subst" "0.000133017" "01943" "SH3PXD2B_000018" "g.171809102A>G" "" "" "" "SH3PXD2B(NM_001017995.2):c.339T>C (p.S113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172382098A>G" "" "likely benign" "" "0000299469" "0" "50" "5" "171752385" "171752385" "subst" "0.000472952" "02329" "SH3PXD2B_000031" "g.171752385C>T" "" "" "" "SH3PXD2B(NM_001308175.1):c.1189-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172325381C>T" "" "VUS" "" "0000308037" "0" "30" "5" "171833291" "171833291" "subst" "0" "01943" "SH3PXD2B_000019" "g.171833291G>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.222C>A (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172406287G>T" "" "likely benign" "" "0000308038" "0" "50" "5" "171765715" "171765717" "del" "0" "01943" "SH3PXD2B_000003" "g.171765715_171765717del" "" "" "" "SH3PXD2B(NM_001017995.2):c.2395_2397del (p.(Leu799del)), SH3PXD2B(NM_001017995.2):c.2395_2397delCTC (p.L799del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172338711_172338713del" "" "VUS" "" "0000308039" "0" "30" "5" "171765532" "171765532" "subst" "4.46936E-5" "01943" "SH3PXD2B_000001" "g.171765532G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.2577C>T (p.A859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172338528G>A" "" "likely benign" "" "0000308040" "0" "50" "5" "171789871" "171789871" "subst" "0.000820564" "01943" "SH3PXD2B_000016" "g.171789871C>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.430G>T (p.G144C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172362867C>A" "" "VUS" "" "0000330732" "0" "50" "5" "171765715" "171765717" "del" "0" "01804" "SH3PXD2B_000003" "g.171765715_171765717del" "" "" "" "SH3PXD2B(NM_001017995.2):c.2395_2397del (p.(Leu799del)), SH3PXD2B(NM_001017995.2):c.2395_2397delCTC (p.L799del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172338711_172338713del" "" "VUS" "" "0000330733" "0" "50" "5" "171765723" "171765723" "subst" "1.22027E-5" "01804" "SH3PXD2B_000004" "g.171765723G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.2386C>T (p.(Arg796Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172338719G>A" "" "VUS" "" "0000330734" "0" "30" "5" "171765882" "171765882" "subst" "0.0013501" "01804" "SH3PXD2B_000005" "g.171765882C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.2227G>A (p.V743M, p.(Val743Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172338878C>T" "" "likely benign" "" "0000330735" "0" "30" "5" "171765981" "171765981" "subst" "0.000544437" "01804" "SH3PXD2B_000006" "g.171765981G>C" "" "" "" "SH3PXD2B(NM_001017995.2):c.2128C>G (p.(Gln710Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172338977G>C" "" "likely benign" "" "0000330736" "0" "50" "5" "171766082" "171766082" "subst" "0" "01804" "SH3PXD2B_000007" "g.171766082T>G" "" "" "" "SH3PXD2B(NM_001017995.2):c.2027A>C (p.(Gln676Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172339078T>G" "" "VUS" "" "0000330737" "0" "50" "5" "171766404" "171766404" "subst" "0.000556377" "01804" "SH3PXD2B_000008" "g.171766404T>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.1705A>T (p.(Ile569Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172339400T>A" "" "VUS" "" "0000330739" "0" "30" "5" "171766493" "171766498" "del" "0" "01804" "SH3PXD2B_000010" "g.171766493_171766498del" "" "" "" "SH3PXD2B(NM_001017995.2):c.1624_1629del (p.(Glu542_Arg543del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172339489_172339494del" "" "likely benign" "" "0000330740" "0" "30" "5" "171766566" "171766566" "subst" "0.00225384" "01804" "SH3PXD2B_000011" "g.171766566C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.1543G>A (p.(Asp515Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172339562C>T" "" "likely benign" "" "0000330741" "0" "50" "5" "171766605" "171766605" "subst" "4.06075E-6" "01804" "SH3PXD2B_000012" "g.171766605T>C" "" "" "" "SH3PXD2B(NM_001017995.2):c.1504A>G (p.(Met502Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172339601T>C" "" "VUS" "" "0000330742" "0" "50" "5" "171766826" "171766826" "subst" "2.4371E-5" "01804" "SH3PXD2B_000013" "g.171766826G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.1283C>T (p.(Thr428Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172339822G>A" "" "VUS" "" "0000330745" "0" "50" "5" "171800811" "171800811" "subst" "1.2187E-5" "01804" "SH3PXD2B_000017" "g.171800811A>G" "" "" "" "SH3PXD2B(NM_001017995.2):c.410T>C (p.I137T, p.(Ile137Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172373807A>G" "" "VUS" "" "0000330746" "0" "30" "5" "171849487" "171849487" "subst" "4.1212E-5" "01804" "SH3PXD2B_000020" "g.171849487C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.89G>A (p.(Arg30Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172422483C>T" "" "likely benign" "" "0000330747" "0" "30" "5" "171849496" "171849496" "subst" "0" "01804" "SH3PXD2B_000021" "g.171849496T>G" "" "" "" "SH3PXD2B(NM_001017995.2):c.80A>C (p.(Tyr27Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172422492T>G" "" "likely benign" "" "0000337345" "0" "90" "5" "171881281" "171881281" "subst" "0" "02327" "SH3PXD2B_000030" "g.171881281C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172454277C>T" "" "pathogenic" "" "0000339535" "0" "10" "5" "171789779" "171789779" "subst" "0.0168571" "02327" "SH3PXD2B_000026" "g.171789779G>A" "" "" "" "SH3PXD2B(NM_001017995.3):c.522C>T (p.(Ser174=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172362775G>A" "" "benign" "" "0000345392" "0" "90" "5" "171849461" "171849461" "subst" "0" "02327" "SH3PXD2B_000028" "g.171849461C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172422457C>A" "" "pathogenic" "" "0000345700" "0" "90" "5" "171809041" "171809041" "subst" "0" "02327" "SH3PXD2B_000027" "g.171809041C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172382037C>A" "" "pathogenic" "" "0000348353" "0" "10" "5" "171777495" "171777495" "subst" "0.0175262" "02327" "SH3PXD2B_000024" "g.171777495G>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.884C>A (p.(Pro295Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172350491G>T" "" "benign" "" "0000348382" "0" "10" "5" "171777393" "171777393" "subst" "0.011301" "02327" "SH3PXD2B_000023" "g.171777393G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.986C>T (p.(Pro329Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172350389G>A" "" "benign" "" "0000348961" "0" "10" "5" "171849471" "171849471" "subst" "0.349897" "02327" "SH3PXD2B_000029" "g.171849471G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172422467G>A" "" "benign" "" "0000350974" "0" "10" "5" "171785892" "171785892" "subst" "0.731506" "02327" "SH3PXD2B_000025" "g.171785892A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.172358888A>G" "" "benign" "" "0000525176" "0" "50" "5" "171765422" "171765422" "subst" "0" "01943" "SH3PXD2B_000032" "g.171765422G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.2687C>T (p.P896L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172338418G>A" "" "VUS" "" "0000525177" "0" "30" "5" "171765445" "171765445" "subst" "1.2184E-5" "01943" "SH3PXD2B_000033" "g.171765445G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.2664C>T (p.F888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172338441G>A" "" "likely benign" "" "0000525179" "0" "50" "5" "171765987" "171765987" "subst" "1.2189E-5" "01943" "SH3PXD2B_000035" "g.171765987G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.2122C>T (p.R708C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172338983G>A" "" "VUS" "" "0000525180" "0" "50" "5" "171766272" "171766272" "subst" "1.21886E-5" "02330" "SH3PXD2B_000036" "g.171766272G>A" "" "" "" "SH3PXD2B(NM_001017995.3):c.1837C>T (p.R613W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172339268G>A" "" "VUS" "" "0000525182" "0" "30" "5" "171773272" "171773272" "subst" "0.0011407" "01804" "SH3PXD2B_000038" "g.171773272C>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.1063-7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172346268C>A" "" "likely benign" "" "0000525184" "0" "30" "5" "171777393" "171777393" "subst" "0.011301" "01804" "SH3PXD2B_000023" "g.171777393G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.986C>T (p.(Pro329Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172350389G>A" "" "likely benign" "" "0000525186" "0" "30" "5" "171777495" "171777495" "subst" "0.0175262" "01804" "SH3PXD2B_000024" "g.171777495G>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.884C>A (p.(Pro295Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172350491G>T" "" "likely benign" "" "0000525187" "0" "50" "5" "171777565" "171777565" "subst" "0.00101294" "01804" "SH3PXD2B_000041" "g.171777565C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.814G>A (p.(Ala272Thr)), SH3PXD2B(NM_001017995.3):c.814G>A (p.A272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172350561C>T" "" "VUS" "" "0000525188" "0" "30" "5" "171833277" "171833277" "subst" "0.00377717" "01804" "SH3PXD2B_000042" "g.171833277C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.232+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172406273C>T" "" "likely benign" "" "0000609628" "0" "50" "5" "171766227" "171766227" "subst" "0" "02325" "SH3PXD2B_000043" "g.171766227C>A" "" "" "" "SH3PXD2B(NM_001017995.3):c.1882G>T (p.D628Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172339223C>A" "" "VUS" "" "0000609629" "0" "30" "5" "171766507" "171766507" "subst" "0.000495693" "01943" "SH3PXD2B_000044" "g.171766507C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.1602G>A (p.G534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172339503C>T" "" "likely benign" "" "0000609630" "0" "30" "5" "171777385" "171777385" "subst" "1.64177E-5" "01804" "SH3PXD2B_000045" "g.171777385C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.994G>A (p.(Asp332Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172350381C>T" "" "likely benign" "" "0000609631" "0" "50" "5" "171777565" "171777565" "subst" "0.00101294" "02325" "SH3PXD2B_000041" "g.171777565C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.814G>A (p.(Ala272Thr)), SH3PXD2B(NM_001017995.3):c.814G>A (p.A272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172350561C>T" "" "VUS" "" "0000621532" "0" "30" "5" "171773272" "171773272" "subst" "0.0011407" "01943" "SH3PXD2B_000038" "g.171773272C>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.1063-7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172346268C>A" "" "likely benign" "" "0000677467" "0" "30" "5" "171800811" "171800811" "subst" "1.2187E-5" "01943" "SH3PXD2B_000017" "g.171800811A>G" "" "" "" "SH3PXD2B(NM_001017995.2):c.410T>C (p.I137T, p.(Ile137Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694774" "3" "90" "5" "171777410" "171777410" "del" "0" "00006" "SH3PXD2B_000046" "g.171777410del" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000720337" "0" "30" "5" "171765882" "171765882" "subst" "0.0013501" "01943" "SH3PXD2B_000005" "g.171765882C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.2227G>A (p.V743M, p.(Val743Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720338" "0" "30" "5" "171766397" "171766397" "subst" "0.00420328" "01804" "SH3PXD2B_000047" "g.171766397G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.1712C>T (p.(Pro571Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720339" "0" "50" "5" "171777409" "171777409" "subst" "0.000466678" "01943" "SH3PXD2B_000048" "g.171777409G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.970C>T (p.R324W, p.(Arg324Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730066" "3" "90" "5" "171821596" "171821596" "subst" "0" "00000" "SH3PXD2B_000049" "g.171821596G>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001017995.2:c.280C>G:p.(Arg94Gly)" "" "Germline" "" "" "0" "" "" "g.172394592G>C" "" "likely pathogenic (recessive)" "" "0000802029" "0" "50" "5" "171766704" "171766704" "subst" "2.03105E-5" "01943" "SH3PXD2B_000050" "g.171766704G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.1405C>T (p.P469S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802030" "0" "50" "5" "171766706" "171766706" "subst" "0.000158432" "01943" "SH3PXD2B_000051" "g.171766706C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.1403G>A (p.R468Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802031" "0" "30" "5" "171777382" "171777382" "subst" "0.000295603" "01943" "SH3PXD2B_000052" "g.171777382C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.997G>A (p.G333S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802032" "0" "30" "5" "171785773" "171785773" "subst" "1.67377E-5" "01943" "SH3PXD2B_000053" "g.171785773C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.667+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850871" "0" "30" "5" "171774299" "171774299" "subst" "0.000105579" "01943" "SH3PXD2B_000054" "g.171774299C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.1050G>A (p.R350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886750" "0" "50" "5" "171765830" "171765830" "subst" "2.03373E-5" "01804" "SH3PXD2B_000055" "g.171765830C>T" "" "" "" "SH3PXD2B(NM_001017995.2):c.2279G>A (p.(Arg760His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912283" "0" "30" "5" "171777409" "171777409" "subst" "0.000466678" "01804" "SH3PXD2B_000048" "g.171777409G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.970C>T (p.R324W, p.(Arg324Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976711" "0" "50" "5" "171765429" "171765429" "subst" "8.12308E-6" "01804" "SH3PXD2B_000056" "g.171765429C>T" "" "" "" "SH3PXD2B(NM_001017995.3):c.2680G>A (p.(Gly894Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994865" "0" "30" "5" "171766563" "171766563" "subst" "4.06098E-6" "01804" "SH3PXD2B_000057" "g.171766563T>C" "" "" "" "SH3PXD2B(NM_001017995.2):c.1546A>G (p.(Met516Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994866" "0" "50" "5" "171785833" "171785833" "subst" "0" "01804" "SH3PXD2B_000058" "g.171785833G>A" "" "" "" "SH3PXD2B(NM_001017995.2):c.611C>T (p.(Thr204Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994867" "0" "50" "5" "171849491" "171849491" "subst" "0" "01804" "SH3PXD2B_000059" "g.171849491T>C" "" "" "" "SH3PXD2B(NM_001017995.2):c.85A>G (p.(Ile29Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035087" "0" "50" "5" "171765648" "171765648" "subst" "0" "01804" "SH3PXD2B_000060" "g.171765648T>C" "" "" "" "SH3PXD2B(NM_001017995.3):c.2461A>G (p.(Lys821Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035088" "0" "50" "5" "171766125" "171766125" "subst" "5.68496E-5" "01804" "SH3PXD2B_000061" "g.171766125C>T" "" "" "" "SH3PXD2B(NM_001017995.3):c.1984G>A (p.(Asp662Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035089" "0" "30" "5" "171766825" "171766825" "subst" "0.014222" "01804" "SH3PXD2B_000062" "g.171766825C>G" "" "" "" "SH3PXD2B(NM_001017995.3):c.1284G>C (p.(Thr428=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035090" "0" "50" "5" "171773240" "171773240" "subst" "2.03216E-5" "01804" "SH3PXD2B_000063" "g.171773240G>A" "" "" "" "SH3PXD2B(NM_001017995.3):c.1088C>T (p.(Pro363Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035091" "0" "30" "5" "171789779" "171789779" "subst" "0.0168571" "01804" "SH3PXD2B_000026" "g.171789779G>A" "" "" "" "SH3PXD2B(NM_001017995.3):c.522C>T (p.(Ser174=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035092" "0" "50" "5" "171809046" "171809046" "subst" "4.15096E-5" "01804" "SH3PXD2B_000064" "g.171809046G>T" "" "" "" "SH3PXD2B(NM_001017995.3):c.395C>A (p.(Pro132His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052197" "0" "50" "5" "171766121" "171766121" "subst" "9.7454E-5" "01804" "SH3PXD2B_000065" "g.171766121A>G" "" "" "" "SH3PXD2B(NM_001017995.3):c.1988T>C (p.(Ile663Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067998" "3" "90" "5" "171849434" "171849434" "dup" "0" "00006" "SH3PXD2B_000067" "g.171849434dup" "" "{PMID:Iqbal 2010:20137777}" "" "147insT (F49X)" "" "Germline" "" "" "0" "" "" "g.172422430dup" "" "pathogenic (recessive)" "" "0001067999" "3" "90" "5" "171849434" "171849434" "dup" "0" "00006" "SH3PXD2B_000067" "g.171849434dup" "" "{PMID:Iqbal 2010:20137777}" "" "147insT (F49X)" "" "Germline" "" "" "0" "" "" "g.172422430dup" "" "pathogenic (recessive)" "" "0001068000" "3" "90" "5" "171849434" "171849434" "dup" "0" "00006" "SH3PXD2B_000067" "g.171849434dup" "" "{PMID:Iqbal 2010:20137777}" "" "147insT (F49X)" "" "Germline" "" "" "0" "" "" "g.172422430dup" "" "pathogenic (recessive)" "" "0001068001" "3" "90" "5" "171777412" "171777412" "del" "0" "00006" "SH3PXD2B_000046" "g.171777412del" "" "{PMID:Iqbal 2010:20137777}" "" "969delG" "" "Germline" "" "" "0" "" "" "g.172350408del" "" "pathogenic (recessive)" "" "0001068002" "3" "90" "5" "171636650" "171881527" "del" "0" "00006" "SH3PXD2B_000068" "g.(171615346_171636650)_(171881527_172116328)del" "" "{PMID:Iqbal 2010:20137777}" "" "" "deletion UBTD2 and SH3PXD2B but not STK10 and AK026748" "Germline" "yes" "" "0" "" "" "g.(172188342_172209646)_(172454523_172689324)del" "" "pathogenic (recessive)" "" "0001068003" "3" "90" "5" "171636650" "171881527" "del" "0" "00006" "SH3PXD2B_000068" "g.(171615346_171636650)_(171881527_172116328)del" "" "{PMID:Iqbal 2010:20137777}" "" "" "deletion UBTD2 and SH3PXD2B but not STK10 and AK026748" "Germline" "yes" "" "0" "" "" "g.(172188342_172283791)_(172454523_172689324)del" "" "pathogenic (recessive)" "" "0001068004" "3" "90" "5" "171777412" "171777412" "del" "0" "00006" "SH3PXD2B_000046" "g.171777412del" "" "{PMID:Iqbal 2010:20137777}" "" "969delG" "" "Germline" "" "" "0" "" "" "g.172350408del" "" "pathogenic (recessive)" "" "0001068005" "3" "90" "5" "171777412" "171777412" "del" "0" "00006" "SH3PXD2B_000046" "g.171777412del" "" "{PMID:Iqbal 2010:20137777}" "" "969delG" "" "Germline" "" "" "0" "" "" "g.172350408del" "" "pathogenic (recessive)" "" "0001068006" "3" "90" "5" "171849449" "171849449" "subst" "0" "00006" "SH3PXD2B_000066" "g.171849449G>A" "" "{PMID:Iqbal 2010:20137777}" "" "129C>T" "" "Germline" "" "" "0" "" "" "g.172422445G>A" "" "pathogenic (recessive)" "" "0001068007" "3" "90" "5" "171849502" "171849502" "subst" "4.15148E-6" "00006" "SH3PXD2B_000071" "g.171849502T>G" "" "{PMID:Iqbal 2010:20137777}" "" "" "" "Germline" "" "" "0" "" "" "g.172422498T>G" "" "pathogenic (recessive)" "" "0001068008" "3" "90" "5" "171809039" "171809039" "subst" "0" "00006" "SH3PXD2B_000070" "g.171809039C>T" "" "{PMID:Wilson 2014:24105366}" "" "" "not in 534 unrelated controls" "Germline" "" "" "0" "" "" "g.172382035C>T" "" "pathogenic (recessive)" "" "0001068009" "3" "90" "5" "171758784" "171771367" "del" "0" "00006" "SH3PXD2B_000069" "g.171758784_171771367del" "" "{PMID:Wilson 2014:24105366}" "" "1188+1773_2733+6592del" "del ex13 (incl. 3\'UTR)" "Germline" "yes" "" "0" "" "" "g.172331780_172344363del" "" "pathogenic (recessive)" "" "0001068010" "3" "90" "5" "171758784" "171771367" "del" "0" "00006" "SH3PXD2B_000069" "g.171758784_171771367del" "" "{PMID:Wilson 2014:24105366}" "" "1188+1773_2733+6592del" "del ex13 (incl. 3\'UTR)" "Germline" "yes" "" "0" "" "" "g.172331780_172344363del" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SH3PXD2B ## Count = 78 "{{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}}" "0000254965" "00018855" "30" "339" "0" "339" "0" "c.339T>C" "r.(?)" "p.(Ser113=)" "" "0000299469" "00018855" "50" "15724" "0" "15724" "0" "c.*12988G>A" "r.(=)" "p.(=)" "" "0000308037" "00018855" "30" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Pro74=)" "" "0000308038" "00018855" "50" "2395" "0" "2397" "0" "c.2395_2397del" "r.(?)" "p.(Leu799del)" "" "0000308039" "00018855" "30" "2577" "0" "2577" "0" "c.2577C>T" "r.(?)" "p.(Ala859=)" "" "0000308040" "00018855" "50" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Cys)" "" "0000330732" "00018855" "50" "2395" "0" "2397" "0" "c.2395_2397del" "r.(?)" "p.(Leu799del)" "" "0000330733" "00018855" "50" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796Cys)" "" "0000330734" "00018855" "30" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Val743Met)" "" "0000330735" "00018855" "30" "2128" "0" "2128" "0" "c.2128C>G" "r.(?)" "p.(Gln710Glu)" "" "0000330736" "00018855" "50" "2027" "0" "2027" "0" "c.2027A>C" "r.(?)" "p.(Gln676Pro)" "" "0000330737" "00018855" "50" "1705" "0" "1705" "0" "c.1705A>T" "r.(?)" "p.(Ile569Phe)" "" "0000330739" "00018855" "30" "1624" "0" "1629" "0" "c.1624_1629del" "r.(?)" "p.(Glu542_Arg543del)" "" "0000330740" "00018855" "30" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Asp515Asn)" "" "0000330741" "00018855" "50" "1504" "0" "1504" "0" "c.1504A>G" "r.(?)" "p.(Met502Val)" "" "0000330742" "00018855" "50" "1283" "0" "1283" "0" "c.1283C>T" "r.(?)" "p.(Thr428Met)" "" "0000330745" "00018855" "50" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Ile137Thr)" "" "0000330746" "00018855" "30" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30Gln)" "" "0000330747" "00018855" "30" "80" "0" "80" "0" "c.80A>C" "r.(?)" "p.(Tyr27Ser)" "" "0000337345" "00018855" "90" "75" "1" "75" "1" "c.75+1G>A" "r.spl?" "p.?" "" "0000339535" "00018855" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Ser174=)" "" "0000345392" "00018855" "90" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Glu39Ter)" "" "0000345700" "00018855" "90" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Glu134Ter)" "" "0000348353" "00018855" "10" "884" "0" "884" "0" "c.884C>A" "r.(?)" "p.(Pro295Gln)" "" "0000348382" "00018855" "10" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "" "0000348961" "00018855" "10" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Ser35=)" "" "0000350974" "00018855" "10" "563" "-11" "563" "-11" "c.563-11T>C" "r.(=)" "p.(=)" "" "0000525176" "00018855" "50" "2687" "0" "2687" "0" "c.2687C>T" "r.(?)" "p.(Pro896Leu)" "" "0000525177" "00018855" "30" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(Phe888=)" "" "0000525179" "00018855" "50" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708Cys)" "" "0000525180" "00018855" "50" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Trp)" "" "0000525182" "00018855" "30" "1063" "-7" "1063" "-7" "c.1063-7G>T" "r.(=)" "p.(=)" "" "0000525184" "00018855" "30" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "" "0000525186" "00018855" "30" "884" "0" "884" "0" "c.884C>A" "r.(?)" "p.(Pro295Gln)" "" "0000525187" "00018855" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Ala272Thr)" "" "0000525188" "00018855" "30" "232" "4" "232" "4" "c.232+4G>A" "r.spl?" "p.?" "" "0000609628" "00018855" "50" "1882" "0" "1882" "0" "c.1882G>T" "r.(?)" "p.(Asp628Tyr)" "" "0000609629" "00018855" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Gly534=)" "" "0000609630" "00018855" "30" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Asp332Asn)" "" "0000609631" "00018855" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Ala272Thr)" "" "0000621532" "00018855" "30" "1063" "-7" "1063" "-7" "c.1063-7G>T" "r.(=)" "p.(=)" "" "0000677467" "00018855" "30" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Ile137Thr)" "" "0000694774" "00018855" "90" "969" "0" "969" "0" "c.969del" "r.(?)" "p.(Arg324Glyfs*19)" "" "0000720337" "00018855" "30" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Val743Met)" "" "0000720338" "00018855" "30" "1712" "0" "1712" "0" "c.1712C>T" "r.(?)" "p.(Pro571Leu)" "" "0000720339" "00018855" "50" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Trp)" "" "0000730066" "00018855" "90" "280" "0" "280" "0" "c.280C>G" "r.(?)" "p.(Arg94Gly)" "" "0000802029" "00018855" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Pro469Ser)" "" "0000802030" "00018855" "50" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "" "0000802031" "00018855" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Gly333Ser)" "" "0000802032" "00018855" "30" "667" "4" "667" "4" "c.667+4G>A" "r.spl?" "p.?" "" "0000850871" "00018855" "30" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Arg350=)" "" "0000886750" "00018855" "50" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" "p.(Arg760His)" "" "0000912283" "00018855" "30" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Trp)" "" "0000976711" "00018855" "50" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Gly894Arg)" "" "0000994865" "00018855" "30" "1546" "0" "1546" "0" "c.1546A>G" "r.(?)" "p.(Met516Val)" "" "0000994866" "00018855" "50" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Thr204Met)" "" "0000994867" "00018855" "50" "85" "0" "85" "0" "c.85A>G" "r.(?)" "p.(Ile29Val)" "" "0001035087" "00018855" "50" "2461" "0" "2461" "0" "c.2461A>G" "r.(?)" "p.(Lys821Glu)" "" "0001035088" "00018855" "50" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Asp662Asn)" "" "0001035089" "00018855" "30" "1284" "0" "1284" "0" "c.1284G>C" "r.(?)" "p.(=)" "" "0001035090" "00018855" "50" "1088" "0" "1088" "0" "c.1088C>T" "r.(?)" "p.(Pro363Leu)" "" "0001035091" "00018855" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Ser174=)" "" "0001035092" "00018855" "50" "395" "0" "395" "0" "c.395C>A" "r.(?)" "p.(Pro132His)" "" "0001052197" "00018855" "50" "1988" "0" "1988" "0" "c.1988T>C" "r.(?)" "p.(Ile663Thr)" "" "0001067998" "00018855" "90" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Asp50Ter)" "" "0001067999" "00018855" "90" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Asp50Ter)" "" "0001068000" "00018855" "90" "147" "0" "147" "0" "c.147dup" "r.(?)" "p.(Asp50Ter)" "" "0001068001" "00018855" "90" "969" "0" "969" "0" "c.969del" "r.(?)" "p.(Arg324GlyfsTer19)" "" "0001068002" "00018855" "90" "-171" "0" "7606" "0" "c.(?_-171)_(*4870_?)del" "r.0" "p.0" "" "0001068003" "00018855" "90" "-171" "0" "7606" "0" "c.(?_-171)_(*4870_?)del" "r.0" "p.0" "" "0001068004" "00018855" "90" "969" "0" "969" "0" "c.969del" "r.(?)" "p.(Arg324GlyfsTer19)" "" "0001068005" "00018855" "90" "969" "0" "969" "0" "c.969del" "r.(?)" "p.(Arg324GlyfsTer19)" "" "0001068006" "00018855" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Trp)" "" "0001068007" "00018855" "90" "76" "-2" "76" "-2" "c.76-2A>C" "r.spl" "p.?" "" "0001068008" "00018855" "90" "401" "1" "401" "1" "c.401+1G>A" "r.spl" "p.?" "5i" "0001068009" "00018855" "90" "" "0" "" "0" "c.1188+1773_*6589del" "r.?" "p.?" "12i_13_" "0001068010" "00018855" "90" "" "0" "" "0" "c.1188+1773_*6589del" "r.?" "p.?" "12i_13_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000313044" "0000694774" "0000332784" "0000730066" "0000473965" "0001067998" "0000473966" "0001067999" "0000473967" "0001068000" "0000473971" "0001068001" "0000473972" "0001068002" "0000473973" "0001068003" "0000473975" "0001068004" "0000473976" "0001068005" "0000473980" "0001068006" "0000473981" "0001068007" "0000473982" "0001068008" "0000473985" "0001068009" "0000473986" "0001068010"