### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIX3) # 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}}" "SIX3" "SIX homeobox 3" "2" "p21" "unknown" "NG_016222.1" "UD_132118624390" "" "https://www.LOVD.nl/SIX3" "" "1" "10889" "6496" "603714" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-21 12:35:46" "00006" "2025-11-13 13:04:16" ## 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}}" "00018954" "SIX3" "SIX homeobox 3" "001" "NM_005413.3" "" "NP_005404.1" "" "" "" "-207" "2316" "999" "45169037" "45173216" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19" "01439" "HPE2" "holoprosencephaly, type 2 (HPE-2)" "AD" "157170" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02064" "-" "Schizencephaly" "" "269160" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02262" "RS1" "retinoschisis, type 1, X-linked" "XLR" "312700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-12-19 09:25:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SIX3" "00139" "SIX3" "00438" "SIX3" "01439" "SIX3" "02064" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00292756" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00419623" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9098" "00459353" "" "" "" "4" "" "00006" "{PMID:Chen 2021:34675999}" "3-generation family, 4 affected (grandfather/4 boys), 4 unaffected carrier females" "M" "" "China" "" "0" "" "" "" "FamPatIII6" "00469365" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00292756" "00198" "00419623" "00198" "00459353" "02262" "00469365" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00438, 01439, 02064, 02262 ## Count = 3 "{{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}}" "0000310904" "00198" "00419623" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000347449" "02262" "00459353" "00006" "Familial, X-linked recessive" "" "see paper; ..., retinoschisis; color vision blue-purple anomaly" "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" "0000354518" "00198" "00469365" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293924" "00292756" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420927" "00419623" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000460974" "00459353" "1" "00006" "00006" "2024-12-24 10:32:56" "" "" "SEQ-NG" "DNA" "" "WES" "0000471033" "00469365" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "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 = 59 "{{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}}" "0000248515" "0" "10" "2" "45171842" "45171842" "subst" "0.924435" "02325" "SIX3_000004" "g.45171842A>G" "" "" "" "SIX3(NM_005413.3):c.942A>G (p.A314=), SIX3(NM_005413.4):c.942A>G (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44944703A>G" "" "benign" "" "0000308161" "0" "30" "2" "45169591" "45169591" "subst" "0.00056241" "01943" "SIX3_000002" "g.45169591C>T" "" "" "" "SIX3(NM_005413.3):c.348C>T (p.P116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44942452C>T" "" "likely benign" "" "0000326968" "0" "50" "2" "45171787" "45171787" "subst" "8.27449E-5" "01804" "SIX3_000003" "g.45171787C>G" "" "" "" "SIX3(NM_005413.3):c.887C>G (p.(Ser296Trp)), SIX3(NM_005413.4):c.887C>G (p.S296W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44944648C>G" "" "VUS" "" "0000516044" "0" "30" "2" "45169285" "45169285" "subst" "5.16929E-5" "01943" "SIX3_000005" "g.45169285C>T" "" "" "" "SIX3(NM_005413.3):c.42C>T (p.F14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942146C>T" "" "likely benign" "" "0000516045" "0" "30" "2" "45169301" "45169301" "subst" "0.000508327" "01943" "SIX3_000006" "g.45169301G>T" "" "" "" "SIX3(NM_005413.3):c.58G>T (p.A20S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942162G>T" "" "likely benign" "" "0000516046" "0" "30" "2" "45169369" "45169416" "del" "0" "01804" "SIX3_000007" "g.45169369_45169416del" "" "" "" "SIX3(NM_005413.3):c.94_141del (p.(Gly34_Gly49del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942230_44942277del" "" "likely benign" "" "0000516048" "0" "50" "2" "45169400" "45169400" "subst" "0" "01943" "SIX3_000009" "g.45169400G>T" "" "" "" "SIX3(NM_005413.3):c.157G>T (p.G53C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942261G>T" "" "VUS" "" "0000516049" "0" "10" "2" "45169448" "45169450" "del" "0" "02327" "SIX3_000010" "g.45169448_45169450del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942309_44942311del" "" "benign" "" "0000516050" "0" "30" "2" "45169449" "45169449" "subst" "9.79605E-5" "02325" "SIX3_000011" "g.45169449G>A" "" "" "" "SIX3(NM_005413.3):c.206G>A (p.G69D), SIX3(NM_005413.4):c.206G>A (p.(Gly69Asp), p.G69D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942310G>A" "" "likely benign" "" "0000516051" "0" "90" "2" "45169478" "45169478" "subst" "0" "02327" "SIX3_000012" "g.45169478A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942339A>G" "" "pathogenic" "" "0000516052" "0" "30" "2" "45169506" "45169506" "subst" "0.000331277" "01943" "SIX3_000013" "g.45169506C>T" "" "" "" "SIX3(NM_005413.3):c.263C>T (p.S88L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942367C>T" "" "likely benign" "" "0000516053" "0" "90" "2" "45169581" "45169581" "subst" "0" "02327" "SIX3_000014" "g.45169581G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942442G>A" "" "pathogenic" "" "0000516055" "0" "90" "2" "45169706" "45169708" "del" "0" "02327" "SIX3_000016" "g.45169706_45169708del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942567_44942569del" "" "pathogenic" "" "0000516056" "0" "10" "2" "45169768" "45169768" "subst" "0.00223386" "02327" "SIX3_000017" "g.45169768G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942629G>A" "" "benign" "" "0000516057" "0" "10" "2" "45169819" "45169819" "subst" "0.0199481" "02327" "SIX3_000018" "g.45169819C>T" "" "" "" "SIX3(NM_005413.3):c.576C>T (p.R192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942680C>T" "" "benign" "" "0000516058" "0" "50" "2" "45169851" "45169851" "subst" "0" "02327" "SIX3_000019" "g.45169851T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942712T>C" "" "VUS" "" "0000516059" "0" "70" "2" "45169902" "45169902" "subst" "0" "02327" "SIX3_000020" "g.45169902T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942763T>C" "" "likely pathogenic" "" "0000516060" "0" "90" "2" "45169979" "45169979" "del" "0" "02327" "SIX3_000021" "g.45169979del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942840del" "" "pathogenic" "" "0000516061" "0" "70" "2" "45169990" "45169990" "subst" "0" "02327" "SIX3_000022" "g.45169990A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942851A>C" "" "likely pathogenic" "" "0000516062" "0" "90" "2" "45170012" "45170012" "subst" "0" "02327" "SIX3_000023" "g.45170012C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942873C>G" "" "pathogenic" "" "0000516063" "0" "90" "2" "45170049" "45170049" "subst" "0" "02327" "SIX3_000024" "g.45170049G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942910G>C" "" "pathogenic" "" "0000516064" "0" "90" "2" "45170049" "45170049" "subst" "0" "02327" "SIX3_000025" "g.45170049G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942910G>T" "" "pathogenic" "" "0000516065" "0" "90" "2" "45170050" "45170050" "subst" "0" "02327" "SIX3_000026" "g.45170050G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942911G>T" "" "pathogenic" "" "0000516066" "0" "30" "2" "45171700" "45171700" "subst" "0.000113303" "01804" "SIX3_000027" "g.45171700C>T" "" "" "" "SIX3(NM_005413.3):c.807-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44944561C>T" "" "likely benign" "" "0000516067" "0" "30" "2" "45171724" "45171724" "subst" "0.000354821" "01943" "SIX3_000028" "g.45171724T>C" "" "" "" "SIX3(NM_005413.3):c.824T>C (p.I275T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44944585T>C" "" "likely benign" "" "0000516068" "0" "30" "2" "45171731" "45171731" "subst" "0.00021588" "01943" "SIX3_000029" "g.45171731G>A" "" "" "" "SIX3(NM_005413.3):c.831G>A (p.P277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44944592G>A" "" "likely benign" "" "0000516069" "0" "30" "2" "45171847" "45171847" "subst" "0.00060543" "02326" "SIX3_000030" "g.45171847C>T" "" "" "" "SIX3(NM_005413.3):c.947C>T (p.T316I), SIX3(NM_005413.4):c.947C>T (p.T316I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44944708C>T" "" "likely benign" "" "0000607979" "0" "90" "2" "45169647" "45169650" "dup" "0" "02327" "SIX3_000031" "g.45169647_45169650dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942508_44942511dup" "" "pathogenic" "" "0000607980" "0" "30" "2" "45169963" "45169963" "subst" "0.00148223" "01943" "SIX3_000032" "g.45169963G>T" "" "" "" "SIX3(NM_005413.3):c.720G>T (p.A240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942824G>T" "" "likely benign" "" "0000650613" "1" "30" "2" "45169352" "45169352" "subst" "0.00127339" "03575" "SIX3_000033" "g.45169352G>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199823175}" "Germline" "" "rs199823175" "0" "" "" "g.44942213G>T" "" "likely benign" "" "0000654663" "0" "30" "2" "45169323" "45169323" "subst" "4.30927E-6" "01943" "SIX3_000034" "g.45169323T>C" "" "" "" "SIX3(NM_005413.3):c.80T>C (p.I27T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942184T>C" "" "likely benign" "" "0000654664" "0" "30" "2" "45169489" "45169489" "subst" "1.35212E-5" "01943" "SIX3_000035" "g.45169489G>T" "" "" "" "SIX3(NM_005413.3):c.246G>T (p.L82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44942350G>T" "" "likely benign" "" "0000676649" "0" "30" "2" "45169612" "45169612" "subst" "0.000922193" "01943" "SIX3_000036" "g.45169612G>A" "" "" "" "SIX3(NM_005413.3):c.369G>A (p.E123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688788" "0" "30" "2" "45169352" "45169352" "subst" "0.00127339" "01943" "SIX3_000033" "g.45169352G>T" "" "" "" "SIX3(NM_005413.3):c.109G>T (p.G37C, p.(Gly37Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718830" "0" "50" "2" "45169394" "45169394" "subst" "0" "02329" "SIX3_000008" "g.45169394G>C" "" "" "" "SIX3(NM_005413.4):c.151G>C (p.G51R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718831" "0" "50" "2" "45169449" "45169449" "subst" "9.79605E-5" "01943" "SIX3_000011" "g.45169449G>A" "" "" "" "SIX3(NM_005413.3):c.206G>A (p.G69D), SIX3(NM_005413.4):c.206G>A (p.(Gly69Asp), p.G69D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800666" "0" "50" "2" "45169464" "45169464" "subst" "0.000180788" "01943" "SIX3_000001" "g.45169464C>G" "" "" "" "SIX3(NM_005413.3):c.221C>G (p.P74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800667" "0" "70" "2" "45169997" "45169999" "del" "0" "02325" "SIX3_000037" "g.45169997_45169999del" "" "" "" "SIX3(NM_005413.4):c.754_756delAAC (p.N252del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800668" "0" "50" "2" "45171847" "45171847" "subst" "0.00060543" "01943" "SIX3_000030" "g.45171847C>T" "" "" "" "SIX3(NM_005413.3):c.947C>T (p.T316I), SIX3(NM_005413.4):c.947C>T (p.T316I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849914" "0" "70" "2" "45169577" "45169577" "subst" "0" "02329" "SIX3_000038" "g.45169577C>T" "" "" "" "SIX3(NM_005413.4):c.334C>T (p.L112F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858556" "0" "10" "2" "45169819" "45169819" "subst" "0.0199481" "01943" "SIX3_000018" "g.45169819C>T" "" "" "" "SIX3(NM_005413.3):c.576C>T (p.R192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858557" "0" "10" "2" "45170194" "45170194" "subst" "0" "01943" "SIX3_000039" "g.45170194A>G" "" "" "" "SIX3(NM_005413.3):c.806+145A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858558" "0" "10" "2" "45171842" "45171842" "subst" "0.924435" "01943" "SIX3_000004" "g.45171842A>G" "" "" "" "SIX3(NM_005413.3):c.942A>G (p.A314=), SIX3(NM_005413.4):c.942A>G (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000881286" "0" "90" "2" "45169645" "45169659" "del" "0" "02300" "SIX3_000040" "g.45169645_45169659del" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM2, PM4, PP4" "De novo" "" "" "0" "" "" "g.44942506_44942520del" "" "pathogenic (dominant)" "ACMG" "0000885220" "0" "50" "2" "45171787" "45171787" "subst" "8.27449E-5" "02325" "SIX3_000003" "g.45171787C>G" "" "" "" "SIX3(NM_005413.3):c.887C>G (p.(Ser296Trp)), SIX3(NM_005413.4):c.887C>G (p.S296W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962117" "0" "70" "2" "45169904" "45169904" "subst" "0" "02327" "SIX3_000041" "g.45169904T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975299" "0" "30" "2" "45169449" "45169449" "subst" "9.79605E-5" "01804" "SIX3_000011" "g.45169449G>A" "" "" "" "SIX3(NM_005413.3):c.206G>A (p.G69D), SIX3(NM_005413.4):c.206G>A (p.(Gly69Asp), p.G69D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975300" "0" "50" "2" "45171753" "45171753" "subst" "0" "01804" "SIX3_000042" "g.45171753G>A" "" "" "" "SIX3(NM_005413.4):c.853G>A (p.(Glu285Lys), p.E285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992875" "0" "30" "2" "45169352" "45169352" "subst" "0.00127339" "01804" "SIX3_000033" "g.45169352G>T" "" "" "" "SIX3(NM_005413.3):c.109G>T (p.G37C, p.(Gly37Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992876" "0" "50" "2" "45169367" "45169384" "del" "0" "01804" "SIX3_000043" "g.45169367_45169384del" "" "" "" "SIX3(NM_005413.3):c.124_141delGGCGGCGCGGGAGGCGGC (p.(Gly42_Gly47del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992877" "0" "30" "2" "45169424" "45169424" "subst" "4.46087E-5" "01804" "SIX3_000044" "g.45169424G>A" "" "" "" "SIX3(NM_005413.3):c.181G>A (p.(Gly61Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992878" "0" "50" "2" "45169442" "45169450" "dup" "0" "01804" "SIX3_000045" "g.45169442_45169450dup" "" "" "" "SIX3(NM_005413.3):c.199_207dupGGCGGCGGC (p.(Gly67_Gly69dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992879" "0" "70" "2" "45169859" "45169859" "subst" "0" "01804" "SIX3_000046" "g.45169859G>C" "" "" "" "SIX3(NM_005413.3):c.616G>C (p.(Gly206Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992880" "0" "50" "2" "45169896" "45169896" "subst" "0" "01804" "SIX3_000047" "g.45169896G>A" "" "" "" "SIX3(NM_005413.3):c.653G>A (p.(Arg218Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001019998" "0" "70" "2" "45169521" "45169521" "subst" "0" "00006" "SIX3_000048" "g.45169521C>G" "" "{PMID:Chen 2021:34675999}" "" "" "" "Germline" "" "" "0" "" "" "g.44942382C>G" "" "VUS" "" "0001024595" "0" "50" "2" "45171753" "45171753" "subst" "0" "02325" "SIX3_000042" "g.45171753G>A" "" "" "" "SIX3(NM_005413.4):c.853G>A (p.(Glu285Lys), p.E285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050611" "0" "50" "2" "45169272" "45169272" "subst" "0" "01804" "SIX3_000049" "g.45169272A>C" "" "" "" "SIX3(NM_005413.4):c.29A>C (p.(Tyr10Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059155" "0" "70" "2" "45169640" "45169640" "subst" "0" "00006" "SIX3_000050" "g.45169640C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.44942501C>A" "" "likely pathogenic" "" ## 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 SIX3 ## Count = 59 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "0000248515" "00018954" "10" "942" "0" "942" "0" "c.942A>G" "r.(?)" "p.(Ala314=)" "" "" "0000308161" "00018954" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Pro116=)" "" "" "0000326968" "00018954" "50" "887" "0" "887" "0" "c.887C>G" "r.(?)" "p.(Ser296Trp)" "" "" "0000516044" "00018954" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Phe14=)" "" "" "0000516045" "00018954" "30" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Ala20Ser)" "" "" "0000516046" "00018954" "30" "126" "0" "173" "0" "c.126_173del" "r.(?)" "p.(Gly43_Gly58del)" "" "" "0000516048" "00018954" "50" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Gly53Cys)" "" "" "0000516049" "00018954" "10" "205" "0" "207" "0" "c.205_207del" "r.(?)" "p.(Gly69del)" "" "" "0000516050" "00018954" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "" "" "0000516051" "00018954" "90" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Met79Val)" "" "" "0000516052" "00018954" "30" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "" "0000516053" "00018954" "90" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Trp113Ter)" "" "" "0000516055" "00018954" "90" "463" "0" "465" "0" "c.463_465del" "r.(?)" "p.(His155del)" "" "" "0000516056" "00018954" "10" "525" "0" "525" "0" "c.525G>A" "r.(?)" "p.(Gln175=)" "" "" "0000516057" "00018954" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Arg192=)" "" "" "0000516058" "00018954" "50" "608" "0" "608" "0" "c.608T>C" "r.(?)" "p.(Ile203Thr)" "" "" "0000516059" "00018954" "70" "659" "0" "659" "0" "c.659T>C" "r.(?)" "p.(Leu220Pro)" "" "" "0000516060" "00018954" "90" "736" "0" "736" "0" "c.736del" "r.(?)" "p.(Thr246LeufsTer5)" "" "" "0000516061" "00018954" "70" "747" "0" "747" "0" "c.747A>C" "r.(?)" "p.(Gln249His)" "" "" "0000516062" "00018954" "90" "769" "0" "769" "0" "c.769C>G" "r.(?)" "p.(Arg257Gly)" "" "" "0000516063" "00018954" "90" "806" "0" "806" "0" "c.806G>C" "r.(?)" "p.(Arg269Thr)" "" "" "0000516064" "00018954" "90" "806" "0" "806" "0" "c.806G>T" "r.(?)" "p.(Arg269Met)" "" "" "0000516065" "00018954" "90" "806" "1" "806" "1" "c.806+1G>T" "r.spl?" "p.?" "" "" "0000516066" "00018954" "30" "807" "-7" "807" "-7" "c.807-7C>T" "r.(=)" "p.(=)" "" "" "0000516067" "00018954" "30" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Ile275Thr)" "" "" "0000516068" "00018954" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Pro277=)" "" "" "0000516069" "00018954" "30" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Thr316Ile)" "" "" "0000607979" "00018954" "90" "404" "0" "407" "0" "c.404_407dup" "r.(?)" "p.(Val137ArgfsTer18)" "" "" "0000607980" "00018954" "30" "720" "0" "720" "0" "c.720G>T" "r.(?)" "p.(Ala240=)" "" "" "0000650613" "00018954" "30" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Gly37Cys)" "" "" "0000654663" "00018954" "30" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Ile27Thr)" "" "" "0000654664" "00018954" "30" "246" "0" "246" "0" "c.246G>T" "r.(?)" "p.(Leu82=)" "" "" "0000676649" "00018954" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Glu123=)" "" "" "0000688788" "00018954" "30" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Gly37Cys)" "" "" "0000718830" "00018954" "50" "151" "0" "151" "0" "c.151G>C" "r.(?)" "p.(Gly51Arg)" "" "" "0000718831" "00018954" "50" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "" "" "0000800666" "00018954" "50" "221" "0" "221" "0" "c.221C>G" "r.(?)" "p.(Pro74Arg)" "" "" "0000800667" "00018954" "70" "754" "0" "756" "0" "c.754_756del" "r.(?)" "p.(Asn252del)" "" "" "0000800668" "00018954" "50" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Thr316Ile)" "" "" "0000829418" "00018954" "50" "-8388608" "0" "8388607" "0" "c.-17568836_*16909282dup" "r.0?" "p.0?" "" "" "0000849914" "00018954" "70" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Leu112Phe)" "" "" "0000858556" "00018954" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Arg192=)" "" "" "0000858557" "00018954" "10" "806" "145" "806" "145" "c.806+145A>G" "r.(=)" "p.(=)" "" "" "0000858558" "00018954" "10" "942" "0" "942" "0" "c.942A>G" "r.(?)" "p.(Ala314=)" "" "" "0000881286" "00018954" "90" "402" "0" "416" "0" "c.402_416del" "r.(?)" "p.(Arg135_Ala139del)" "" "" "0000885220" "00018954" "50" "887" "0" "887" "0" "c.887C>G" "r.(?)" "p.(Ser296Trp)" "" "" "0000962117" "00018954" "70" "661" "0" "661" "0" "c.661T>G" "r.(?)" "p.(Leu221Val)" "" "" "0000975299" "00018954" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Gly69Asp)" "" "" "0000975300" "00018954" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Glu285Lys)" "" "" "0000992875" "00018954" "30" "109" "0" "109" "0" "c.109G>T" "r.(?)" "p.(Gly37Cys)" "" "" "0000992876" "00018954" "50" "124" "0" "141" "0" "c.124_141del" "r.(?)" "p.(Gly42_Gly47del)" "" "" "0000992877" "00018954" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Gly61Arg)" "" "" "0000992878" "00018954" "50" "199" "0" "207" "0" "c.199_207dup" "r.(?)" "p.(Gly67_Gly69dup)" "" "" "0000992879" "00018954" "70" "616" "0" "616" "0" "c.616G>C" "r.(?)" "p.(Gly206Arg)" "" "" "0000992880" "00018954" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "" "" "0001019998" "00018954" "70" "278" "0" "278" "0" "c.278C>G" "r.(?)" "p.(Ala93Gly)" "" "" "0001024595" "00018954" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Glu285Lys)" "" "" "0001050611" "00018954" "50" "29" "0" "29" "0" "c.29A>C" "r.(?)" "p.(Tyr10Ser)" "" "" "0001059155" "00018954" "70" "397" "0" "397" "0" "c.397C>A" "r.(?)" "p.(Arg133Ser)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000293924" "0000650613" "0000420927" "0000881286" "0000460974" "0001019998" "0000471033" "0001059155"