### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOBP) # 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}}" "SOBP" "sine oculis binding protein homolog (Drosophila)" "6" "q21" "unknown" "NG_028200.2" "UD_132118686586" "" "https://www.LOVD.nl/SOBP" "" "1" "29256" "55084" "613667" "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/SOBP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-10-24 20:40:35" "00000" "2025-05-05 21:14:00" ## 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}}" "00020002" "SOBP" "sine oculis binding protein homolog (Drosophila)" "001" "NM_018013.3" "" "NP_060483.3" "" "" "" "-504" "5728" "2622" "107811317" "107982513" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00797" "MRAMS" "mental retardation, anterior maxillary protrusion, and strabismus (MRAMS)" "AR" "613671" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 2 "{{geneid}}" "{{diseaseid}}" "SOBP" "00139" "SOBP" "00797" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00419896" "" "" "" "1" "" "00006" "{PMID:Angelozzi 2022:35232796}" "2-generation family, 1 affected, unaffected non carrier mother" "M" "" "" "" "0" "" "" "" "Pat13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00419896" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00797, 05611 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000311165" "05611" "00419896" "00006" "Unknown" "" "birth 40w2d; no IUGR; poor growth during childhood (12y-resolved); hypotonia; global developmental delay; no gross motor delay; no fine motor delay; 9m-sit; 13m-walk; speech delay; mild intellectual disability, 10y9m-WISC-IV, verbal comprehension index 67, perceptual reasoning index 53; behavioral problems; hyperactivity/ADHD; no anxiety; 7y-oppositional defiant disorder; no microcephaly; no seizures; heel-walking associated with right upper extremity posturing; myopia; no strabismus; normal hearing; epicanthal folds, broad nasal bridge, thin upper lip, mildly atypical pinnae; atypical antihelix; mild superior posterior skull flattening; normal hands/feet; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000421201" "00419896" "1" "00006" "00006" "2022-10-24 18:06:51" "00006" "2022-10-24 20:38:19" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 22 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000248909" "0" "10" "6" "107956095" "107956095" "subst" "0.9878" "02325" "SOBP_000005" "g.107956095A>G" "" "" "" "SOBP(NM_018013.4):c.2047A>G (p.S683G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634891A>G" "" "benign" "" "0000249815" "0" "50" "6" "107955612" "107955612" "subst" "0" "02325" "SOBP_000003" "g.107955612A>C" "" "" "" "SOBP(NM_018013.4):c.1564A>C (p.T522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634408A>C" "" "VUS" "" "0000308688" "0" "50" "6" "107955168" "107955168" "subst" "0" "01943" "SOBP_000001" "g.107955168C>T" "" "" "" "SOBP(NM_018013.3):c.1120C>T (p.P374S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107633964C>T" "" "VUS" "" "0000331151" "0" "30" "6" "107955549" "107955549" "subst" "0" "01804" "SOBP_000002" "g.107955549A>T" "" "" "" "SOBP(NM_018013.3):c.1501A>T (p.(Met501Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634345A>T" "" "likely benign" "" "0000331152" "0" "50" "6" "107955945" "107955953" "dup" "0" "01804" "SOBP_000004" "g.107955945_107955953dup" "" "" "" "SOBP(NM_018013.3):c.1885_1886insGCCCCCCGG (p.(Ser629_Pro630insProProGly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634741_107634749dup" "" "VUS" "" "0000331153" "0" "30" "6" "107956297" "107956297" "subst" "4.21226E-5" "01804" "SOBP_000007" "g.107956297C>T" "" "" "" "SOBP(NM_018013.3):c.2249C>T (p.(Pro750Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107635093C>T" "" "likely benign" "" "0000348510" "0" "50" "6" "107955777" "107955777" "subst" "0.00059512" "02327" "SOBP_000009" "g.107955777C>T" "" "" "" "SOBP(NM_018013.3):c.1729C>T (p.P577S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634573C>T" "" "VUS" "" "0000349090" "0" "70" "6" "107955694" "107955694" "subst" "0" "02327" "SOBP_000008" "g.107955694C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634490C>A" "" "likely pathogenic" "" "0000349134" "0" "10" "6" "107956095" "107956095" "subst" "0.9878" "02327" "SOBP_000005" "g.107956095A>G" "" "" "" "SOBP(NM_018013.4):c.2047A>G (p.S683G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107634891A>G" "" "benign" "" "0000526596" "0" "30" "6" "107954979" "107954979" "subst" "0" "01804" "SOBP_000010" "g.107954979G>A" "" "" "" "SOBP(NM_018013.3):c.931G>A (p.(Ala311Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107633775G>A" "" "likely benign" "" "0000526600" "0" "10" "6" "107956298" "107956300" "dup" "0" "02325" "SOBP_000014" "g.107956298_107956300dup" "" "" "" "SOBP(NM_018013.4):c.2250_2252dupGCC (p.P751dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107635094_107635096dup" "" "benign" "" "0000609893" "0" "30" "6" "107824930" "107824930" "subst" "0" "01804" "SOBP_000015" "g.107824930G>A" "" "" "" "SOBP(NM_018013.3):c.166G>A (p.(Gly56Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107503726G>A" "" "likely benign" "" "0000677584" "0" "50" "6" "107955369" "107955369" "subst" "0.00122855" "01943" "SOBP_000016" "g.107955369C>T" "" "" "" "SOBP(NM_018013.3):c.1321C>T (p.P441S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677585" "0" "30" "6" "107956298" "107956300" "del" "0" "02330" "SOBP_000017" "g.107956298_107956300del" "" "" "" "SOBP(NM_018013.3):c.2250_2252delGCC (p.P751del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677586" "0" "30" "6" "107956520" "107956520" "subst" "8.14498E-6" "01943" "SOBP_000018" "g.107956520C>T" "" "" "" "SOBP(NM_018013.3):c.2472C>T (p.T824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689599" "0" "30" "6" "107955777" "107955777" "subst" "0.00059512" "01943" "SOBP_000009" "g.107955777C>T" "" "" "" "SOBP(NM_018013.3):c.1729C>T (p.P577S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802253" "0" "50" "6" "107955858" "107955858" "subst" "0.000699502" "01943" "SOBP_000019" "g.107955858C>A" "" "" "" "SOBP(NM_018013.3):c.1810C>A (p.Q604K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851025" "0" "30" "6" "107956505" "107956505" "subst" "0.000109855" "01943" "SOBP_000020" "g.107956505G>A" "" "" "" "SOBP(NM_018013.3):c.2457G>A (p.R819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881824" "21" "90" "6" "107388471" "108146477" "del" "0" "00006" "SOBP_000021" "g.(?_107388471)_(108146477_?)del" "" "{PMID:Angelozzi 2022:35232796}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000995237" "0" "30" "6" "107955877" "107955877" "subst" "0" "01804" "SOBP_000022" "g.107955877C>G" "" "" "" "SOBP(NM_018013.3):c.1829C>G (p.(Pro610Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995238" "0" "50" "6" "107956519" "107956519" "subst" "0" "01804" "SOBP_000023" "g.107956519C>G" "" "" "" "SOBP(NM_018013.3):c.2471C>G (p.(Thr824Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035393" "0" "50" "6" "107956015" "107956015" "subst" "0" "01804" "SOBP_000024" "g.107956015T>G" "" "" "" "SOBP(NM_018013.4):c.1967T>G (p.(Leu656Arg))" "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 SOBP ## Count = 22 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000248909" "00020002" "10" "2047" "0" "2047" "0" "c.2047A>G" "r.(?)" "p.(Ser683Gly)" "" "0000249815" "00020002" "50" "1564" "0" "1564" "0" "c.1564A>C" "r.(?)" "p.(Thr522Pro)" "" "0000308688" "00020002" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Pro374Ser)" "" "0000331151" "00020002" "30" "1501" "0" "1501" "0" "c.1501A>T" "r.(?)" "p.(Met501Leu)" "" "0000331152" "00020002" "50" "1897" "0" "1905" "0" "c.1897_1905dup" "r.(?)" "p.(Pro633_Gly635dup)" "" "0000331153" "00020002" "30" "2249" "0" "2249" "0" "c.2249C>T" "r.(?)" "p.(Pro750Leu)" "" "0000348510" "00020002" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Pro577Ser)" "" "0000349090" "00020002" "70" "1646" "0" "1646" "0" "c.1646C>A" "r.(?)" "p.(Ser549Tyr)" "" "0000349134" "00020002" "10" "2047" "0" "2047" "0" "c.2047A>G" "r.(?)" "p.(Ser683Gly)" "" "0000526596" "00020002" "30" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Ala311Thr)" "" "0000526600" "00020002" "10" "2250" "0" "2252" "0" "c.2250_2252dup" "r.(?)" "p.(Pro751dup)" "" "0000609893" "00020002" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Ser)" "" "0000677584" "00020002" "50" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Pro441Ser)" "" "0000677585" "00020002" "30" "2250" "0" "2252" "0" "c.2250_2252del" "r.(?)" "p.(Pro751del)" "" "0000677586" "00020002" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Thr824=)" "" "0000689599" "00020002" "30" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Pro577Ser)" "" "0000802253" "00020002" "50" "1810" "0" "1810" "0" "c.1810C>A" "r.(?)" "p.(Gln604Lys)" "" "0000851025" "00020002" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Arg819=)" "" "0000881824" "00020002" "90" "0" "0" "0" "0" "c.-504_*3106{0}" "r.0?" "p.0?" "_1_7_" "0000995237" "00020002" "30" "1829" "0" "1829" "0" "c.1829C>G" "r.(?)" "p.(Pro610Arg)" "" "0000995238" "00020002" "50" "2471" "0" "2471" "0" "c.2471C>G" "r.(?)" "p.(Thr824Ser)" "" "0001035393" "00020002" "50" "1967" "0" "1967" "0" "c.1967T>G" "r.(?)" "p.(Leu656Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000421201" "0000881824"