### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SRSF1) # 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}}" "SRSF1" "serine/arginine-rich splicing factor 1" "17" "q22" "unknown" "NC_000017.10" "UD_136092220341" "" "https://www.LOVD.nl/SRSF1" "" "1" "10780" "6426" "600812" "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/SRSF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-30 14:47:57" "00006" "2023-05-05 17:21:59" ## 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}}" "00020315" "SRSF1" "transcript variant 1" "001" "NM_006924.4" "" "NP_008855.1" "" "" "" "-209" "5234" "747" "56084707" "56078280" "" "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}}" "00469" "HPS" "Hermansky-Pudlak syndrome" "" "" "" "" "" "00006" "2014-07-23 09:19:23" "00006" "2022-01-25 17:51:50" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SRSF1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00410800" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00410801" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00410802" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat16" "00410803" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat12" "00410804" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Pat15" "00410805" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00410806" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected (incl. Hermansky Pudlak syndrome), unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00410807" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00410808" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Pat1" "00410809" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00410810" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat11" "00410811" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00410812" "" "" "" "1" "" "00006" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "F" "" "" "" "0" "" "" "" "Pat8" "00435063" "" "" "" "2" "" "00006" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, affected sister/brother, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "FamPat2" "00435064" "" "" "00435063" "1" "" "00006" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "brother" "M" "" "" "" "0" "" "" "" "FamPat3" "00435065" "" "" "" "1" "" "00006" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00435066" "" "" "" "1" "" "00006" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00410800" "05611" "00410801" "05611" "00410802" "05611" "00410803" "05611" "00410804" "05611" "00410805" "05611" "00410806" "00469" "00410806" "05611" "00410807" "05611" "00410808" "05611" "00410809" "05611" "00410810" "05611" "00410811" "05611" "00410812" "05611" "00435063" "05611" "00435064" "05611" "00435065" "05611" "00435066" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00469, 05611 ## Count = 18 "{{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}}" "0000302891" "05611" "00410800" "00006" "Isolated (sporadic)" "02y02m" "no complications pregnancy; birth 39w; neonatal complications; no failure to thrive; truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302892" "05611" "00410801" "00006" "Isolated (sporadic)" "08y05m" "no complications pregnancy; birth at term; neonatal complications; no failure to thrive; no truncal overweight; borderline intellectual disability/developmental delay; no motor delay; speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain normal; hearing loss; normal vision; cardiac anomalies; urogenital/kidney anomalies; no scoliosis; no pectus deformity; L1 vertebral hypoplasia; kyphosis; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302893" "05611" "00410802" "00006" "Isolated (sporadic)" "01y02m" "no complications pregnancy; birth 38w; neonatal complications; no failure to thrive; no truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; MRI brain abnormal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302894" "05611" "00410803" "00006" "Isolated (sporadic)" "03y08m" "no complications pregnancy; birth 41w; no neonatal complications; failure to thrive; no truncal overweight; moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain normal; no hearing loss; no cardiac anomalies; no scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302895" "05611" "00410804" "00006" "Isolated (sporadic)" "18y" "complications pregnancy; birth 39w; no neonatal complications; no failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; no motor delay; speech delay; behavioral disorders; hypotonia; no seizures; no hearing loss; vision problems; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; pectus deformity; metatarsus varus; arachnodactyly; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302896" "05611" "00410805" "00006" "Isolated (sporadic)" "28y" "complications pregnancy; birth 41w; neonatal complications; failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; no hearing loss; normal vision; cardiac anomalies; no urogenital anomalies; no kidney anomalies; hernia, diastasis; scoliosis; pectus deformity; dolichostenomelia; equinovarus; postaxial hexadactyly; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302897" "05611" "00410806" "00006" "Isolated (sporadic)" "23y09m" "no complications pregnancy; no neonatal complications; failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; MRI brain normal; no hearing loss; vision problems; cardiac anomalies; urogenital/kidney anomalies; no scoliosis; no pectus deformity; asymmetric chest; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302898" "05611" "00410807" "00006" "Isolated (sporadic)" "05y02m" "complications pregnancy; birth 31w; no neonatal complications; no failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain abnormal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302899" "05611" "00410808" "00006" "Unknown" "18y" "see paper; ..., developmental delay, complications pregnancy; birth 36w; neonatal complications; failure to thrive; truncal overweight; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; cardiac anomalies; no urogenital anomalies; no kidney anomalies; polycystic spleen; scoliosis; no pectus deformity; genu varum, equinovarus; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302900" "05611" "00410809" "00006" "Isolated (sporadic)" "06y08m" "no complications pregnancy; birth 39w; no neonatal complications; no failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; buccal hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; brachymetatarsia; fallen arches; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302901" "05611" "00410810" "00006" "Isolated (sporadic)" "05y" "no complications pregnancy; birth at term; neonatal complications; no failure to thrive; no truncal overweight; moderate intellectual disability/developmental delay; no motor delay; no speech delay; behavioral disorders; no hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302902" "05611" "00410811" "00006" "Isolated (sporadic)" "34y" "no complications pregnancy; birth at term; neonatal complications; no failure to thrive; no truncal overweight; no motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain normal; no hearing loss; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; pectus deformity; arachnodactyly; facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000302903" "05611" "00410812" "00006" "Isolated (sporadic)" "03y01m" "no complications pregnancy; birth 38w; no neonatal complications; failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; no facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000325300" "05611" "00435063" "00006" "Isolated (sporadic)" "4y9m" "complications pregnancy; birth 40w; no neonatal complications; no failure to thrive; no truncal overweight; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "NDD" "0000325301" "05611" "00435064" "00006" "Isolated (sporadic)" "2y" "no complications pregnancy; birth 38w; neonatal complications; no failure to thrive; trunk adiposity; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; no pectus deformity; facial features" "" "" "" "" "" "" "" "" "NDD" "0000325302" "05611" "00435065" "00006" "Isolated (sporadic)" "4y" "no complications pregnancy; birth 37w; neonatal complications; no truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; no hypotonia; no seizures; vision problems; cardiac anomalies; no scoliosis; pectus deformity; facial features" "" "" "" "" "" "" "" "" "NDD" "0000325303" "05611" "00435066" "00006" "Isolated (sporadic)" "13y6m" "complications pregnancy; neonatal complications; failure to thrive; no truncal overweight; intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; no seizures; no hearing loss; vision problems; no scoliosis; no pectus deformity; genu valgum; facial features" "" "" "" "" "" "" "" "" "NDD" "0000325304" "00469" "00410806" "00006" "Familial, autosomal recessive" "" "2 sisters also affected with Hermansky-Pudlak syndrome" "" "" "" "" "" "" "" "HPS1" "Hermansky-Pudlak syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000412065" "00410800" "1" "00006" "00006" "2022-05-30 15:00:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000412066" "00410801" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412067" "00410802" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412068" "00410803" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412069" "00410804" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412070" "00410805" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412071" "00410806" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412072" "00410807" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412073" "00410808" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412074" "00410809" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412075" "00410810" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412076" "00410811" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412077" "00410812" "1" "00006" "00006" "2022-05-30 15:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436534" "00435063" "1" "00006" "00006" "2023-05-05 17:09:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436535" "00435064" "1" "00006" "00006" "2023-05-05 17:09:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436536" "00435065" "1" "00006" "00006" "2023-05-05 17:09:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436537" "00435066" "1" "00006" "00006" "2023-05-05 17:09:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 17 "{{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}}" "0000869323" "0" "70" "17" "56084428" "56084428" "subst" "0" "00006" "SRSF1_000001" "g.56084428G>A" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PP3 PM2 PP2 PS2" "De novo" "" "" "0" "" "" "g.58007067G>A" "" "likely pathogenic (dominant)" "" "0000869324" "0" "70" "17" "56084380" "56084380" "subst" "0" "00006" "SRSF1_000009" "g.56084380C>A" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58007019C>A" "" "likely pathogenic (dominant)" "" "0000869325" "0" "50" "17" "56084369" "56084369" "subst" "0" "00006" "SRSF1_000008" "g.56084369C>T" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PP2 PM2 PS2 BP4" "De novo" "" "" "0" "" "" "g.58007008C>T" "" "VUS" "" "0000869326" "0" "70" "17" "56083875" "56083875" "subst" "0" "00006" "SRSF1_000007" "g.56083875C>T" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58006514C>T" "" "likely pathogenic (dominant)" "" "0000869327" "0" "70" "17" "56083832" "56083832" "subst" "0" "00006" "SRSF1_000005" "g.56083832A>C" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58006471A>C" "" "likely pathogenic (dominant)" "" "0000869328" "0" "90" "17" "56083852" "56083852" "subst" "0" "00006" "SRSF1_000006" "g.56083852A>T" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PVS1 PM2 PS2" "De novo" "" "" "0" "" "" "g.58006491A>T" "" "pathogenic (dominant)" "" "0000869329" "0" "90" "17" "56084402" "56084402" "subst" "0" "00006" "SRSF1_000010" "g.56084402C>A" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PVS1 PM2 PS2" "De novo" "" "" "0" "" "" "g.58007041C>A" "" "pathogenic (dominant)" "" "0000869330" "0" "90" "17" "56084417" "56084417" "subst" "0" "00006" "SRSF1_000011" "g.56084417G>A" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PVS1 PM2 PS2" "De novo" "" "" "0" "" "" "g.58007056G>A" "" "pathogenic (dominant)" "" "0000869331" "0" "90" "17" "56083708" "56083709" "del" "0" "00006" "SRSF1_000004" "g.56083708_56083709del" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PVS1 PM2 PS2; not inherited from mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.58006347_58006348del" "" "pathogenic (dominant)" "" "0000869332" "0" "90" "17" "56082937" "56082937" "dup" "0" "00006" "SRSF1_000012" "g.56082937dup" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PVS1 PM2 PS2" "De novo" "" "" "0" "" "" "g.58005576dup" "" "pathogenic (dominant)" "" "0000869333" "0" "90" "17" "56082914" "56082914" "del" "0" "00006" "SRSF1_000013" "g.56082914del" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PVS1 PM2 PS2" "De novo" "" "" "0" "" "" "g.58005553del" "" "pathogenic (dominant)" "" "0000869334" "0" "70" "17" "56083236" "56083236" "subst" "0" "00006" "SRSF1_000003" "g.56083236C>T" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58005875C>T" "" "likely pathogenic (dominant)" "" "0000869335" "0" "70" "17" "56083166" "56083166" "subst" "0" "00006" "SRSF1_000002" "g.56083166T>C" "" "Bogaert BeSHG2022, AbsT23, {PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58005805T>C" "" "likely pathogenic (dominant)" "" "0000927548" "0" "70" "17" "56083236" "56083236" "subst" "0" "00006" "SRSF1_000003" "g.56083236C>T" "" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58005875C>T" "" "likely pathogenic (dominant)" "" "0000927549" "0" "70" "17" "56083236" "56083236" "subst" "0" "00006" "SRSF1_000003" "g.56083236C>T" "" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "ACMG PS2 PM2 PP3" "De novo" "" "" "0" "" "" "g.58005875C>T" "" "likely pathogenic (dominant)" "" "0000927550" "0" "90" "17" "55806534" "56540597" "del" "0" "00006" "SRSF1_000014" "g.(?_55806534)_(56540597_?)del" "" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "7q22 (558065434-5654497)x1" "734 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000927551" "0" "90" "17" "55442363" "56309063" "del" "0" "00006" "SRSF1_000014" "g.(?_55442363)_(56309063_?)del" "" "{PMID:Bogaert 2023:37071997}, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016}" "" "" "866 kb deletion; also carries 15q11.2 BP1-BP2 microdeletion which can be associated with developmental, language delay, neurobehavioral disturbances, psychiatric problems" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" ## 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 SRSF1 ## Count = 17 "{{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}}" "0000869323" "00020315" "70" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Pro24Leu)" "" "0000869324" "00020315" "70" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Gly40Val)" "" "0000869325" "00020315" "50" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Asp44Asn)" "" "0000869326" "00020315" "70" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Ala70Thr)" "" "0000869327" "00020315" "70" "251" "0" "251" "0" "c.251T>G" "r.(?)" "p.(Leu84Arg)" "" "0000869328" "00020315" "90" "231" "0" "231" "0" "c.231T>A" "r.(?)" "p.(Tyr77Ter)" "" "0000869329" "00020315" "90" "97" "0" "97" "0" "c.97G>T" "r.(?)" "p.(Glu33Ter)" "" "0000869330" "00020315" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Ter)" "" "0000869331" "00020315" "90" "377" "0" "378" "0" "c.377_378del" "r.(?)" "p.(Ser126TrpfsTer17)" "" "0000869332" "00020315" "90" "579" "0" "579" "0" "c.579dup" "r.(?)" "p.(Val194Serfs*2)" "" "0000869333" "00020315" "90" "601" "0" "601" "0" "c.601del" "r.(?)" "p.(Ser201Valfs*87)" "" "0000869334" "00020315" "70" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000869335" "00020315" "70" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(His183Arg)" "" "0000927548" "00020315" "70" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000927549" "00020315" "70" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000927550" "00020315" "90" "" "0" "" "0" "c.-209_*4487{0}" "r.0" "p.0" "_1_4_" "0000927551" "00020315" "90" "0" "0" "0" "0" "c.-209_*4487{0}" "r.0" "p.0" "_1_4_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000412065" "0000869323" "0000412066" "0000869324" "0000412067" "0000869325" "0000412068" "0000869326" "0000412069" "0000869327" "0000412070" "0000869328" "0000412071" "0000869329" "0000412072" "0000869330" "0000412073" "0000869331" "0000412074" "0000869332" "0000412075" "0000869333" "0000412076" "0000869334" "0000412077" "0000869335" "0000436534" "0000927548" "0000436535" "0000927549" "0000436536" "0000927550" "0000436537" "0000927551"