### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOX11) # 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}}" "SOX11" "SRY (sex determining region Y)-box 11" "2" "p25" "unknown" "NG_050751.1" "UD_136092156162" "" "https://www.LOVD.nl/SOX11" "" "1" "11191" "6664" "600898" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/SOX11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-25 17:15:36" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020046" "SOX11" "SRY (sex determining region Y)-box 11" "001" "NM_003108.3" "" "NP_003099.1" "" "" "" "-55" "8664" "1326" "5832799" "5841517" "" "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}}" "00156" "CSS" "Coffin-Siris syndrome (CSS)" "" "" "" "" "" "00001" "2013-06-27 15:22:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04112" "CSS9;MRD27" "Coffin-Siris syndrome, type 9 (CSS9, mental retardation, autosomal dominant syndrome, type 27 (MRD27))" "AD" "615866" "" "" "" "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}}" "SOX11" "00156" "SOX11" "04112" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00004128" "" "" "" "1" "" "00562" "{PMID:Tsurusaki 2014:24886874}, {DOI:Tsurusaki 2014:10.1038/ncomms5011}" "" "F" "no" "Japan" ">10y" "0" "" "" "" "" "00004129" "" "" "" "1" "" "00562" "{PMID:Tsurusaki 2014:24886874}, {DOI:Tsurusaki 2014:10.1038/ncomms5011}" "" "F" "" "India" ">16y" "0" "" "" "" "" "00081322" "" "" "" "1" "" "01777" "{PMID:Hempel 2016:26543203}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat8" "00081323" "" "" "" "1" "" "01777" "{PMID:Hempel 2016:26543203}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat9" "00174382" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00306973" "" "" "" "3" "" "01869" "" "" "F" "no" "Germany" "" "" "" "" "" "" "00306982" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00306983" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat1" "00306984" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat2" "00306985" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat3" "00306986" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat4" "00306987" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat5" "00306988" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat6" "00306989" "" "" "" "1" "" "00006" "{PMID:Hempel 2016:26543203}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat7" "00391859" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "011P" "00427730" "" "" "" "1" "" "00006" "{PMID:Palmer 2022:36385166}" "2-generation family, 1 affected, asymptomatic carrier mother" "M" "" "Lebanon" "" "0" "" "" "" "C2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00004128" "00156" "00004129" "00156" "00081322" "00156" "00081322" "04112" "00081323" "00156" "00081323" "04112" "00174382" "00198" "00306973" "00156" "00306982" "00156" "00306983" "05611" "00306984" "05611" "00306985" "05611" "00306986" "05611" "00306987" "05611" "00306988" "05611" "00306989" "05611" "00391859" "00156" "00391859" "04112" "00427730" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00156, 00198, 04112, 05611 ## Count = 14 "{{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}}" "0000015001" "00156" "00004129" "00006" "Isolated (sporadic)" "" "mild developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, sparse scalp hair; everted lower lip, abnormal ears; absent/hypoplastic fifth phalanx (hand), absent/hypoplastic fifth phalanx (foot), clinodactyly, short stature; hypogonadotrophic hypogonadism, bilateral malrotated kidneys; retardation prenatal; highly arched eyebrow (HP:0002553);;" "" "" "" "" "" "" "" "" "CSS" "" "" "0000036696" "00156" "00004128" "00006" "Isolated (sporadic)" "" "brith 38w, weight 2340 g (SD -1.9), OFC 30.5 cm (SD -1.8); birth length length 45cm(-2.2); 5m-head, 11m-sit, 1y11m-walk; speak 1y7m; developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, abnormal/delayed dentition; mid facial hypoplasia, thick lips, everted lower lip, abnormal ears, high palate, ptosis, short philtrum; clinodactyly, short stature, sucking problems; small left kidney; generalized hypotonia; feeding problems esp. neonatal period; seizures (HP:0001250); prenatal growth retardation (HP:0001511); abnormal vision (HP:0000504); highly arched eyebrow (HP:0002553); long eyelashes (HP:0000527); flat (depressed/low) nasal bridge (HP:0005280); ;" "" "" "" "" "" "" "" "" "CSS" "" "" "0000060887" "04112" "00081322" "01777" "Isolated (sporadic)" "12y06m" "intellectual disability, microcephaly, absence seizures; height 89.4 cm (0.4th), weight 12.15 kg (0.4th), OFC 46.5 cm (0.4th); 30m-walk, no speech, poor feeding as neonate, autism, 5th finger clinodactyly, hypoplasia nail 5th toe, oculomotor apraxia" "" "" "" "" "" "" "" "" "" "Coffin-Siris syndrome" "" "0000060888" "04112" "00081323" "01777" "Isolated (sporadic)" "11y" "microcephaly, developmental delay; height 109.4 cm (9th), weight 18.45 kg (9th), OFC 48.2 cm (0.4th); 30m-walk; 36m-speech; poor feeding as neonate, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, hypermetropia" "" "" "" "" "" "" "" "" "CSS9" "Coffin-Siris syndrome" "" "0000139220" "00198" "00174382" "01807" "Unknown" "" "HP:0000252 (Microcephaly)" "" "" "" "" "" "" "" "" "" "" "" "0000232801" "00156" "00306982" "00006" "Isolated (sporadic)" "" "see paper; ..., height 124.5 cm (75th), weight 29 kg (91st), OFC 54 cm (75th), walk—16m, significant speech delay, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, oculomotor apraxia" "" "06y10m" "" "" "" "" "" "" "CSS9" "Coffin-Siris syndrome" "" "0000232802" "05611" "00306983" "00006" "Unknown" "12y" "see paper; ..., height 152 cm (25–50th), weight 44 kg (75th), OFC 50.4 cm (<3rd); walk-18m, speech single words, feeding GORD, autism, 5th finger clinodactyly, 2–3 toe syndactyly, scoliosis, Rt microophthalmia, inverted nipples" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000232803" "05611" "00306984" "00006" "Unknown" "5y11m" "see paper; ..., height 102.5 cm (<2nd), weight 14.5 kg (<2nd), OFC 47 cm (<2nd) walk-22m; speech-18m, feeding GORD, 5th finger clinodactyly, hypermetropia" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000232804" "05611" "00306985" "00006" "Unknown" "14y" "see paper; ..., height 158 cm (50th), OFC 52 cm (2nd); walk—20m, no speech delay, poor feeding as a neonate, 5th finger clinodactyly, 2–3 toe syndactyly, scoliosis, inverted nipples" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000232805" "05611" "00306986" "00006" "Unknown" "25y" "see paper; ..., height 162 cm (25th), weight 50 kg (10th), OFC 49 cm (<0.4th); severe intellectual disability, gastritis, febrile seizures, 5th finger clinodactyly, 2–3 toe syndactyly, scoliosis, hypermetropia" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000232806" "05611" "00306987" "00006" "Unknown" "34y" "see paper; ..., height 150 cm (3rd), OFC 53 cm (3rd); intellectual disability, epilepsy, autism, scoliosis" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000232807" "05611" "00306988" "00006" "Unknown" "13y" "see paper; ..., microcephalic, delayed speech, poor feeding as neonate, epilepsy, 5th finger clinodactyl" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000232808" "05611" "00306989" "00006" "Unknown" "2y3m" "see paper; ..., weight 10 kg (2nd), OFC 47.5 cm (50th); walk-15m, speech single words; poor feeding as a neonate, 5th finger clinodactyly, hypoplasia nail 5th toe" "" "" "" "" "" "" "" "" "CSS9" "neurodevelopmental disorder, CSS-like" "" "0000318744" "05611" "00427730" "00006" "Familial, X-linked" "5y6m" "see paper; ..., moderate-severe intellectual disability; Infantile hypotonia; normal hearing; severe myopia; mild ataxia, VII cranial nerve palsy; delayed speech, very rudimentary; impulsiveness, anger outbursts; no seizures; EEG normal; MRI brain normal; height 10th centile; OFC 12th centile; long eyelashes, synophrys, thick eyebrows, low set ears, short but normal fifth digit phalanges in hands and feet, second toe longer than hallux left side; no gastrointestinal symptoms; cranial nerve VII palsy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000004053" "00004128" "1" "00562" "00562" "2013-12-27 06:05:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000004429" "00004129" "1" "00562" "00562" "2014-01-27 09:33:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000081433" "00081322" "1" "01777" "01777" "2016-10-05 17:18:21" "01777" "2016-10-05 17:31:34" "SEQ-NG" "DNA" "blood" "" "0000081435" "00081323" "1" "01777" "01777" "2016-10-05 17:51:10" "" "" "SEQ-NG" "DNA" "blood" "" "0000175273" "00174382" "1" "01807" "01807" "2018-08-08 12:33:51" "" "" "SEQ" "DNA" "" "" "0000308111" "00306973" "1" "01869" "01869" "2020-07-24 14:40:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000308120" "00306982" "1" "00006" "00006" "2020-07-25 17:56:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308121" "00306983" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000308122" "00306984" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000308123" "00306985" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000308124" "00306986" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000308125" "00306987" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000308126" "00306988" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000308127" "00306989" "1" "00006" "00006" "2020-07-25 18:58:04" "" "" "arrayCGH" "DNA" "" "" "0000393101" "00391859" "1" "02494" "02494" "2021-11-19 12:11:41" "" "" "SEQ-NG" "DNA" "" "WES" "0000429053" "00427730" "1" "00006" "00006" "2022-12-12 19:44:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000004053" "SOX11" "0000004429" "SOX11" "0000081433" "OXA1L" "0000308111" "ARID1A" "0000308111" "ARID1B" "0000308111" "ARID2" "0000308111" "DPF2" "0000308111" "PHF6" "0000308111" "SMARCA2" "0000308111" "SMARCA4" "0000308111" "SMARCB1" "0000308111" "SMARCE1" "0000308111" "SOX11" "0000308120" "SOX11" "0000308121" "SOX11" "0000308122" "SOX11" "0000308123" "SOX11" "0000308124" "SOX11" "0000308125" "SOX11" "0000308126" "SOX11" "0000308127" "SOX11" ## 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 = 51 "{{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}}" "0000023406" "0" "70" "2" "5833200" "5833200" "subst" "0" "00562" "SOX11_000001" "g.5833200A>G" "1/92 cases" "{PMID:Tsurusaki 2014:24886874}, {DOI:Tsurusaki 2014:10.1038/ncomms5011}" "" "" "" "De novo" "" "" "0" "" "" "g.5693068A>G" "" "likely pathogenic" "" "0000023407" "0" "70" "2" "5833031" "5833031" "subst" "0" "00562" "SOX11_000002" "g.5833031T>C" "1/92 cases" "{PMID:Tsurusaki 2014:24886874}, {DOI:Tsurusaki 2014:10.1038/ncomms5011}" "" "" "" "De novo" "" "" "0" "" "" "g.5692899T>C" "" "likely pathogenic" "" "0000130569" "0" "90" "2" "5833212" "5833212" "subst" "0" "01777" "SOX11_000004" "g.5833212C>A" "" "{PMID:Hempel 2016:26543203}" "" "" "" "De novo" "" "" "0" "" "" "g.5693080C>A" "" "pathogenic (dominant)" "" "0000130570" "0" "90" "2" "5833003" "5833003" "subst" "0" "01777" "SOX11_000003" "g.5833003G>C" "" "{PMID:Hempel 2016:26543203}" "" "" "" "De novo" "" "" "0" "" "" "g.5692871G>C" "" "pathogenic (dominant)" "" "0000302399" "0" "30" "2" "5833291" "5833296" "del" "0" "02326" "SOX11_000006" "g.5833291_5833296del" "" "" "" "SOX11(NM_003108.4):c.438_443delCGGCGG (p.G147_G148del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5693159_5693164del" "" "likely benign" "" "0000308725" "0" "50" "2" "5833193" "5833201" "del" "0" "01943" "SOX11_000005" "g.5833193_5833201del" "" "" "" "SOX11(NM_003108.3):c.340_348delCCCGACTAC (p.P114_Y116del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5693061_5693069del" "" "VUS" "" "0000341093" "0" "50" "2" "5833158" "5833158" "subst" "0" "02327" "SOX11_000007" "g.5833158C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5693026C>T" "" "VUS" "" "0000341233" "0" "50" "2" "5833410" "5833410" "subst" "0" "02327" "SOX11_000008" "g.5833410C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5693278C>T" "" "VUS" "" "0000395144" "0" "70" "2" "5833176" "5833176" "subst" "0" "01807" "SOX11_000010" "g.5833176A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.5693044A>C" "" "likely pathogenic" "" "0000516483" "0" "70" "2" "5833005" "5833005" "subst" "0" "02329" "SOX11_000011" "g.5833005G>A" "" "" "" "SOX11(NM_003108.4):c.152G>A (p.R51Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5692873G>A" "" "likely pathogenic" "" "0000516485" "0" "50" "2" "5833184" "5833184" "subst" "0" "02327" "SOX11_000013" "g.5833184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693052G>A" "" "VUS" "" "0000516487" "0" "30" "2" "5833442" "5833442" "subst" "9.78388E-5" "01804" "SOX11_000015" "g.5833442G>C" "" "" "" "SOX11(NM_003108.3):c.589G>C (p.(Asp197His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693310G>C" "" "likely benign" "" "0000516488" "0" "30" "2" "5833552" "5833554" "del" "0" "01804" "SOX11_000016" "g.5833552_5833554del" "" "" "" "SOX11(NM_003108.3):c.673_675del (p.(Asp225del)), SOX11(NM_003108.4):c.699_701delCGA (p.D233del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693420_5693422del" "" "likely benign" "" "0000516489" "0" "30" "2" "5833552" "5833554" "del" "0" "02325" "SOX11_000016" "g.5833552_5833554del" "" "" "" "SOX11(NM_003108.3):c.673_675del (p.(Asp225del)), SOX11(NM_003108.4):c.699_701delCGA (p.D233del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693420_5693422del" "" "likely benign" "" "0000516491" "0" "50" "2" "5833838" "5833838" "subst" "0" "02329" "SOX11_000018" "g.5833838C>A" "" "" "" "SOX11(NM_003108.4):c.985C>A (p.P329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693706C>A" "" "VUS" "" "0000516492" "0" "30" "2" "5833904" "5833915" "dup" "0" "02325" "SOX11_000019" "g.5833904_5833915dup" "" "" "" "SOX11(NM_003108.3):c.1031_1032insCAGCAGCAGCGG (p.(Ser351_Ser354dup)), SOX11(NM_003108.4):c.1051_1062dupAGCGGCAGCAGC (p.S351_S354dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693772_5693783dup" "" "likely benign" "" "0000608061" "0" "50" "2" "5833294" "5833296" "del" "0" "02325" "SOX11_000014" "g.5833294_5833296del" "" "" "" "SOX11(NM_003108.4):c.441_443delCGG (p.G148del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693162_5693164del" "" "VUS" "" "0000608062" "0" "50" "2" "5833751" "5833751" "subst" "0" "02325" "SOX11_000020" "g.5833751G>C" "" "" "" "SOX11(NM_003108.4):c.898G>C (p.G300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5693619G>C" "" "VUS" "" "0000674951" "0" "90" "2" "5832992" "5832992" "subst" "0" "01869" "SOX11_000021" "g.5832992G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5692860G>A" "" "likely pathogenic" "" "0000674960" "0" "90" "2" "5832940" "5832940" "subst" "0" "00006" "SOX11_000022" "g.5832940C>A" "" "{PMID:Hempel 2016:26543203}" "" "" "" "De novo" "" "" "0" "" "" "g.5692808C>A" "" "pathogenic (dominant)" "" "0000674961" "0" "90" "2" "4291420" "6905655" "del" "0" "00006" "SOX11_000023" "g.(?_4291420)_(6905655_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(4291420–6905655)(hg 19)x1" "" "" "pathogenic (dominant)" "" "0000674962" "0" "90" "2" "5511851" "16027633" "del" "0" "00006" "SOX11_000023" "g.(?_5511851)_(16027633_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(5511851–16027633)x1" "" "" "pathogenic (dominant)" "" "0000674963" "0" "90" "2" "5838893" "7023548" "del" "0" "00006" "SOX11_000023" "g.(?_5838893)_(7023548_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(5838893–7023548)(hg19)x1" "" "" "pathogenic (dominant)" "" "0000674964" "0" "90" "2" "5535091" "16398225" "del" "0" "00006" "SOX11_000023" "g.(?_5535091)_(16398225_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(5535091–16398225)x1" "" "" "pathogenic (dominant)" "" "0000674965" "0" "90" "2" "2231163" "8300707" "del" "0" "00006" "SOX11_000023" "g.(?_2231163)_(8300707_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(2231163–8300707)x1" "" "" "pathogenic (dominant)" "" "0000674966" "0" "90" "2" "5209876" "8078809" "del" "0" "00006" "SOX11_000023" "g.(?_5209876)_(8078809_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(5209876–8078809)x1" "" "" "pathogenic (dominant)" "" "0000674967" "0" "90" "2" "5166592" "6400126" "del" "0" "00006" "SOX11_000023" "g.(?_5166592)_(6400126_?)del" "" "{PMID:Hempel 2016:26543203}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "2p25(5166592–6400126)x1" "" "" "pathogenic (dominant)" "" "0000676691" "0" "30" "2" "5833904" "5833915" "dup" "0" "01804" "SOX11_000019" "g.5833904_5833915dup" "" "" "" "SOX11(NM_003108.3):c.1031_1032insCAGCAGCAGCGG (p.(Ser351_Ser354dup)), SOX11(NM_003108.4):c.1051_1062dupAGCGGCAGCAGC (p.S351_S354dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688832" "0" "50" "2" "5833538" "5833538" "subst" "0" "02325" "SOX11_000024" "g.5833538G>A" "" "" "" "SOX11(NM_003108.4):c.685G>A (p.D229N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718910" "0" "50" "2" "5832902" "5832902" "del" "0" "02329" "SOX11_000025" "g.5832902del" "" "" "" "SOX11(NM_003108.4):c.49delG (p.E17Rfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718911" "0" "70" "2" "5832998" "5832998" "subst" "0" "02329" "SOX11_000009" "g.5832998A>C" "" "" "" "SOX11(NM_003108.4):c.145A>C (p.I49L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718912" "0" "70" "2" "5833426" "5833426" "subst" "0" "02329" "SOX11_000026" "g.5833426C>A" "" "" "" "SOX11(NM_003108.4):c.573C>A (p.Y191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718913" "0" "70" "2" "5833730" "5833730" "dup" "0" "02329" "SOX11_000017" "g.5833730dup" "" "" "" "SOX11(NM_003108.4):c.877dupC (p.L293Pfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800756" "0" "50" "2" "5833085" "5833085" "subst" "0" "02325" "SOX11_000027" "g.5833085G>C" "" "" "" "SOX11(NM_003108.4):c.232G>C (p.E78Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800757" "0" "50" "2" "5833549" "5833554" "dup" "0" "02325" "SOX11_000028" "g.5833549_5833554dup" "" "" "" "SOX11(NM_003108.4):c.696_701dupCGACGA (p.D232_D233dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823711" "0" "50" "2" "5833101" "5833101" "subst" "0" "02494" "SOX11_000029" "g.5833101T>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000908723" "0" "70" "2" "5832999" "5832999" "subst" "0" "00006" "SOX11_000030" "g.5832999T>A" "" "{PMID:Palmer 2022:36385166}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000923768" "0" "70" "2" "5833212" "5833212" "subst" "0" "02327" "SOX11_000004" "g.5833212C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923769" "0" "50" "2" "5833848" "5833848" "subst" "0" "02325" "SOX11_000031" "g.5833848C>T" "" "" "" "SOX11(NM_003108.4):c.995C>T (p.S332L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928650" "0" "50" "2" "5833552" "5833554" "dup" "0" "02325" "SOX11_000032" "g.5833552_5833554dup" "" "" "" "SOX11(NM_003108.4):c.699_701dupCGA (p.D233dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962248" "0" "90" "2" "5833076" "5833076" "subst" "0" "02327" "SOX11_000033" "g.5833076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975378" "0" "50" "2" "5833130" "5833130" "subst" "0" "01804" "SOX11_000035" "g.5833130A>T" "" "" "" "SOX11(NM_003108.4):c.277A>T (p.(Ser93Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975379" "0" "30" "2" "5833511" "5833511" "subst" "0.00012701" "01804" "SOX11_000036" "g.5833511G>A" "" "" "" "SOX11(NM_003108.4):c.658G>A (p.(Val220Met), p.V220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975380" "0" "50" "2" "5833563" "5833563" "subst" "9.58837E-6" "01804" "SOX11_000037" "g.5833563T>A" "" "" "" "SOX11(NM_003108.4):c.710T>A (p.(Leu237Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992969" "0" "30" "2" "5833586" "5833586" "subst" "1.48743E-5" "01804" "SOX11_000038" "g.5833586G>C" "" "" "" "SOX11(NM_003108.3):c.733G>C (p.(Glu245Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013776" "0" "50" "2" "5833511" "5833511" "subst" "0.00012701" "02325" "SOX11_000036" "g.5833511G>A" "" "" "" "SOX11(NM_003108.4):c.658G>A (p.(Val220Met), p.V220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024662" "0" "50" "2" "5834148" "5834148" "subst" "0" "02325" "SOX11_000039" "g.5834148C>A" "" "" "" "SOX11(NM_003108.4):c.1295C>A (p.A432E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050517" "0" "90" "2" "5833023" "5833023" "subst" "0" "02327" "SOX11_000040" "g.5833023T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050518" "0" "50" "2" "5846323" "5846323" "subst" "0" "01804" "SOX11_000041" "g.5846323G>A" "" "" "" "SOX11(NM_003108.4):c.*12144G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063336" "0" "50" "2" "5833309" "5833320" "del" "0" "02325" "SOX11_000042" "g.5833309_5833320del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063337" "0" "50" "2" "5833350" "5833350" "subst" "3.44851E-5" "02325" "SOX11_000043" "g.5833350A>G" "" "" "" "" "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 SOX11 ## Count = 51 "{{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}}" "0000023406" "00020046" "70" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Tyr116Cys)" "1" "0000023407" "00020046" "70" "178" "0" "178" "0" "c.178T>C" "r.(?)" "p.(Ser60Pro)" "1" "0000130569" "00020046" "90" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Pro120His)" "1" "0000130570" "00020046" "90" "150" "0" "150" "0" "c.150G>C" "r.(?)" "p.(Lys50Asn)" "" "0000302399" "00020046" "30" "438" "0" "443" "0" "c.438_443del" "r.(?)" "p.(Gly147_Gly148del)" "" "0000308725" "00020046" "50" "340" "0" "348" "0" "c.340_348del" "r.(?)" "p.(Pro114_Tyr116del)" "" "0000341093" "00020046" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ala102Val)" "" "0000341233" "00020046" "50" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Ala186Val)" "" "0000395144" "00020046" "70" "323" "0" "323" "0" "c.323A>C" "r.(?)" "p.(Lys108Thr)" "" "0000516483" "00020046" "70" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "" "0000516485" "00020046" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Ala111Thr)" "" "0000516487" "00020046" "30" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Asp197His)" "" "0000516488" "00020046" "30" "699" "0" "701" "0" "c.699_701del" "r.(?)" "p.(Asp233del)" "" "0000516489" "00020046" "30" "699" "0" "701" "0" "c.699_701del" "r.(?)" "p.(Asp233del)" "" "0000516491" "00020046" "50" "985" "0" "985" "0" "c.985C>A" "r.(?)" "p.(Pro329Thr)" "" "0000516492" "00020046" "30" "1051" "0" "1062" "0" "c.1051_1062dup" "r.(?)" "p.(Ser351_Ser354dup)" "" "0000608061" "00020046" "50" "441" "0" "443" "0" "c.441_443del" "r.(?)" "p.(Gly148del)" "" "0000608062" "00020046" "50" "898" "0" "898" "0" "c.898G>C" "r.(?)" "p.(Gly300Arg)" "" "0000674951" "00020046" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Ser)" "1" "0000674960" "00020046" "90" "87" "0" "87" "0" "c.87C>A" "r.(?)" "p.(Cys29*)" "" "0000674961" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000674962" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000674963" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000674964" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000674965" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000674966" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000674967" "00020046" "90" "" "0" "" "0" "c.-55_*7338{0}" "r.0?" "p.0?" "_1_" "0000676691" "00020046" "30" "1051" "0" "1062" "0" "c.1051_1062dup" "r.(?)" "p.(Ser351_Ser354dup)" "" "0000688832" "00020046" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Asp229Asn)" "" "0000718910" "00020046" "50" "49" "0" "49" "0" "c.49del" "r.(?)" "p.(Glu17Argfs*37)" "" "0000718911" "00020046" "70" "145" "0" "145" "0" "c.145A>C" "r.(?)" "p.(Ile49Leu)" "" "0000718912" "00020046" "70" "573" "0" "573" "0" "c.573C>A" "r.(?)" "p.(Tyr191*)" "" "0000718913" "00020046" "70" "877" "0" "877" "0" "c.877dup" "r.(?)" "p.(Leu293ProfsTer105)" "" "0000800756" "00020046" "50" "232" "0" "232" "0" "c.232G>C" "r.(?)" "p.(Glu78Gln)" "" "0000800757" "00020046" "50" "696" "0" "701" "0" "c.696_701dup" "r.(?)" "p.(Asp232_Asp233dup)" "" "0000823711" "00020046" "50" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Leu83Pro)" "" "0000908723" "00020046" "70" "146" "0" "146" "0" "c.146T>A" "r.(?)" "p.(Ile49Asn)" "" "0000923768" "00020046" "70" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Pro120His)" "" "0000923769" "00020046" "50" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Ser332Leu)" "" "0000928650" "00020046" "50" "699" "0" "701" "0" "c.699_701dup" "r.(?)" "p.(Asp233dup)" "" "0000962248" "00020046" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(His75Tyr)" "" "0000975378" "00020046" "50" "277" "0" "277" "0" "c.277A>T" "r.(?)" "p.(Ser93Cys)" "" "0000975379" "00020046" "30" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Val220Met)" "" "0000975380" "00020046" "50" "710" "0" "710" "0" "c.710T>A" "r.(?)" "p.(Leu237Gln)" "" "0000992969" "00020046" "30" "733" "0" "733" "0" "c.733G>C" "r.(?)" "p.(Glu245Gln)" "" "0001013776" "00020046" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Val220Met)" "" "0001024662" "00020046" "50" "1295" "0" "1295" "0" "c.1295C>A" "r.(?)" "p.(Ala432Glu)" "" "0001050517" "00020046" "90" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Met57Thr)" "" "0001050518" "00020046" "50" "13470" "0" "13470" "0" "c.*12144G>A" "r.(=)" "p.(=)" "" "0001063336" "00020046" "50" "456" "0" "467" "0" "c.456_467del" "r.(?)" "p.(Gly153_Gly156del)" "" "0001063337" "00020046" "50" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Lys166Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000004053" "0000023406" "0000004429" "0000023407" "0000081433" "0000130569" "0000081435" "0000130570" "0000175273" "0000395144" "0000308111" "0000674951" "0000308120" "0000674960" "0000308121" "0000674961" "0000308122" "0000674962" "0000308123" "0000674963" "0000308124" "0000674964" "0000308125" "0000674965" "0000308126" "0000674966" "0000308127" "0000674967" "0000393101" "0000823711" "0000429053" "0000908723"