### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SIX6)
# 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}}"
"SIX6"	"SIX homeobox 6"	"14"	"q23.1"	"unknown"	"NC_000014.8"	"UD_132118383910"	""	"https://www.LOVD.nl/SIX6"	""	"1"	"10892"	"4990"	"606326"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2024-06-06 16:54:37"	"00006"	"2024-06-10 15:00:48"


## 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}}"
"00018958"	"SIX6"	"SIX homeobox 6"	"001"	"NM_007374.2"	""	"NP_031400.2"	""	""	""	"-179"	"1296"	"741"	"60975938"	"60978525"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00356"	"MCOP"	"microphthalmia (MCOP)"	""	""	""	""	""	"00006"	"2014-03-14 18:41:31"	"00006"	"2015-12-07 07:11:25"
"01696"	"ODRMD"	"optic disc anomalies with retinal and/or macular dystrophy (ODRMD)"	"AR"	"212550"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SIX6"	"01696"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00291066"	""	""	""	"12"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00332123"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2017:29450879}"	"family"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"F51‐M"
"00451539"	""	""	""	"3"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"4-generation family, 3 affected (2F, M)"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamCPatIV1"
"00451540"	""	""	"00451539"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"sister"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamCPatIV3"
"00451541"	""	""	"00451539"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"sister"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamCPatIV5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00291066"	"00198"
"00332123"	"00356"
"00451539"	"00198"
"00451540"	"00198"
"00451541"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00356, 01696
## Count = 4
"{{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}}"
"0000250314"	"00356"	"00332123"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"non‐syndromic microphthalmia"	""
"0000340214"	"00198"	"00451539"	"04543"	"Familial, autosomal recessive"	"42y"	"no night vision; no perception light; nystagmus; bilateral corneal haze; no photophobia; bilateral microcornea"	"<1y"	""	""	""	""	""	""	""	"ODRMD"	"Leber congenital amaurosis"	""
"0000340215"	"00198"	"00451540"	"04543"	"Familial, autosomal recessive"	"28y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia; sclerocornea, microcornea"	"<1y"	""	""	""	""	""	""	""	"ODRMD"	"Leber congenital amaurosis"	""
"0000340216"	"00198"	"00451541"	"04543"	"Familial, autosomal recessive"	"36y"	"no night vision; no perception light; no nystagmus; corneal haze left eye; no photophobia; bilateral microcornea"	"<1y"	""	""	""	""	""	""	""	"ODRMD"	"Leber congenital amaurosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000292234"	"00291066"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000333343"	"00332123"	"1"	"00000"	"00006"	"2021-02-15 09:08:25"	""	""	"SEQ-NG"	"DNA"	""	""
"0000453140"	"00451539"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs, WGS"
"0000453141"	"00451540"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs, WGS"
"0000453142"	"00451541"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs, WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000333343"	"SIX6"


## 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}}"
"0000295848"	"0"	"10"	"14"	"60976290"	"60976290"	"subst"	"0.00044524"	"02330"	"SIX6_000001"	"g.60976290C>T"	""	""	""	"SIX6(NM_007374.3):c.174C>T (p.A58=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60509572C>T"	""	"benign"	""
"0000295849"	"0"	"50"	"14"	"60976338"	"60976338"	"subst"	"0"	"02330"	"SIX6_000002"	"g.60976338G>A"	""	""	""	"SIX6(NM_007374.3):c.222G>A (p.L74=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60509620G>A"	""	"VUS"	""
"0000295850"	"0"	"10"	"14"	"60977843"	"60977843"	"subst"	"0.00319571"	"02330"	"SIX6_000004"	"g.60977843T>G"	""	""	""	"SIX6(NM_007374.2):c.614T>G (p.L205R), SIX6(NM_007374.3):c.614T>G (p.L205R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60511125T>G"	""	"benign"	""
"0000299480"	"0"	"50"	"14"	"60976650"	"60976650"	"subst"	"0"	"02329"	"SIX6_000003"	"g.60976650C>A"	""	""	""	"SIX6(NM_007374.3):c.534C>A (p.N178K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60509932C>A"	""	"VUS"	""
"0000308167"	"0"	"30"	"14"	"60977843"	"60977843"	"subst"	"0.00319571"	"01943"	"SIX6_000004"	"g.60977843T>G"	""	""	""	"SIX6(NM_007374.2):c.614T>G (p.L205R), SIX6(NM_007374.3):c.614T>G (p.L205R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60511125T>G"	""	"likely benign"	""
"0000348863"	"0"	"50"	"14"	"60976186"	"60976186"	"subst"	"4.24596E-6"	"02327"	"SIX6_000005"	"g.60976186A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60509468A>G"	""	"VUS"	""
"0000349783"	"0"	"90"	"14"	"60976220"	"60976220"	"subst"	"0"	"02327"	"SIX6_000006"	"g.60976220G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.60509502G>A"	""	"pathogenic"	""
"0000552748"	"0"	"30"	"14"	"60976410"	"60976410"	"subst"	"0.000158569"	"02330"	"SIX6_000007"	"g.60976410G>A"	""	""	""	"SIX6(NM_007374.3):c.294G>A (p.E98=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60509692G>A"	""	"likely benign"	""
"0000552749"	"0"	"50"	"14"	"60976501"	"60976501"	"subst"	"0.00403846"	"01943"	"SIX6_000008"	"g.60976501G>A"	""	""	""	"SIX6(NM_007374.2):c.385G>A (p.E129K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60509783G>A"	""	"VUS"	""
"0000552750"	"0"	"30"	"14"	"60977866"	"60977866"	"subst"	"0.000654832"	"01943"	"SIX6_000009"	"g.60977866C>T"	""	""	""	"SIX6(NM_007374.2):c.637C>T (p.P213S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60511148C>T"	""	"likely benign"	""
"0000614983"	"0"	"50"	"14"	"60976514"	"60976514"	"subst"	"0"	"01943"	"SIX6_000010"	"g.60976514A>C"	""	""	""	"SIX6(NM_007374.2):c.398A>C (p.H133P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60509796A>C"	""	"VUS"	""
"0000623148"	"0"	"70"	"14"	"60976666"	"60976667"	"dup"	"0"	"02330"	"SIX6_000011"	"g.60976666_60976667dup"	""	""	""	"SIX6(NM_007374.3):c.550_551dupCG (p.A185Efs*77)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60509948_60509949dup"	""	"likely pathogenic"	""
"0000623149"	"0"	"30"	"14"	"60976701"	"60976701"	"subst"	"5.12626E-6"	"02330"	"SIX6_000012"	"g.60976701A>G"	""	""	""	"SIX6(NM_007374.3):c.572+13A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60509983A>G"	""	"likely benign"	""
"0000623150"	"0"	"30"	"14"	"60977864"	"60977864"	"subst"	"4.17202E-6"	"01943"	"SIX6_000013"	"g.60977864C>A"	""	""	""	"SIX6(NM_007374.2):c.635C>A (p.T212K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60511146C>A"	""	"likely benign"	""
"0000648923"	"1"	"50"	"14"	"60976501"	"60976501"	"subst"	"0.00403846"	"03575"	"SIX6_000008"	"g.60976501G>A"	"12/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"12 heterozygous, no homozygous; {DB:CLININrs146737847}"	"Germline"	""	"rs146737847"	"0"	""	""	"g.60509783G>A"	""	"VUS"	""
"0000724814"	"0"	"90"	"14"	"60976648"	"60976652"	"del"	"0"	"02327"	"SIX6_000014"	"g.60976648_60976652del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000730914"	"3"	"90"	"14"	"60976648"	"60976652"	"del"	"0"	"00000"	"SIX6_000014"	"g.60976648_60976652del"	""	"{PMID:Patel 2017:29450879}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.60509930_60509934del"	""	"pathogenic (recessive)"	""
"0000891828"	"0"	"30"	"14"	"60977883"	"60977883"	"subst"	"0"	"02330"	"SIX6_000015"	"g.60977883C>T"	""	""	""	"SIX6(NM_007374.3):c.654C>T (p.V218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950260"	"0"	"30"	"14"	"60976464"	"60976464"	"subst"	"4.06587E-6"	"02330"	"SIX6_000016"	"g.60976464G>A"	""	""	""	"SIX6(NM_007374.3):c.348G>A (p.R116=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000987653"	"3"	"70"	"14"	"60976663"	"60976663"	"subst"	"0"	"04543"	"SIX6_000017"	"g.60976663G>C"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM5, PP3, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.60509945G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987654"	"3"	"70"	"14"	"60976663"	"60976663"	"subst"	"0"	"04543"	"SIX6_000017"	"g.60976663G>C"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM5, PP3, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.60509945G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000987655"	"3"	"70"	"14"	"60976663"	"60976663"	"subst"	"0"	"04543"	"SIX6_000017"	"g.60976663G>C"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM5, PP3, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.60509945G>C"	""	"likely pathogenic (recessive)"	"ACMG"


## 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 SIX6
## 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}}"
"0000295848"	"00018958"	"10"	"174"	"0"	"174"	"0"	"c.174C>T"	"r.(?)"	"p.(Ala58=)"	""
"0000295849"	"00018958"	"50"	"222"	"0"	"222"	"0"	"c.222G>A"	"r.(?)"	"p.(Leu74=)"	""
"0000295850"	"00018958"	"10"	"614"	"0"	"614"	"0"	"c.614T>G"	"r.(?)"	"p.(Leu205Arg)"	""
"0000299480"	"00018958"	"50"	"534"	"0"	"534"	"0"	"c.534C>A"	"r.(?)"	"p.(Asn178Lys)"	""
"0000308167"	"00018958"	"30"	"614"	"0"	"614"	"0"	"c.614T>G"	"r.(?)"	"p.(Leu205Arg)"	""
"0000348863"	"00018958"	"50"	"70"	"0"	"70"	"0"	"c.70A>G"	"r.(?)"	"p.(Ser24Gly)"	""
"0000349783"	"00018958"	"90"	"104"	"0"	"104"	"0"	"c.104G>A"	"r.(?)"	"p.(Trp35Ter)"	""
"0000552748"	"00018958"	"30"	"294"	"0"	"294"	"0"	"c.294G>A"	"r.(?)"	"p.(Glu98=)"	""
"0000552749"	"00018958"	"50"	"385"	"0"	"385"	"0"	"c.385G>A"	"r.(?)"	"p.(Glu129Lys)"	""
"0000552750"	"00018958"	"30"	"637"	"0"	"637"	"0"	"c.637C>T"	"r.(?)"	"p.(Pro213Ser)"	""
"0000614983"	"00018958"	"50"	"398"	"0"	"398"	"0"	"c.398A>C"	"r.(?)"	"p.(His133Pro)"	""
"0000623148"	"00018958"	"70"	"550"	"0"	"551"	"0"	"c.550_551dup"	"r.(?)"	"p.(Ala185GlufsTer77)"	""
"0000623149"	"00018958"	"30"	"572"	"13"	"572"	"13"	"c.572+13A>G"	"r.(=)"	"p.(=)"	""
"0000623150"	"00018958"	"30"	"635"	"0"	"635"	"0"	"c.635C>A"	"r.(?)"	"p.(Thr212Lys)"	""
"0000648923"	"00018958"	"50"	"385"	"0"	"385"	"0"	"c.385G>A"	"r.(?)"	"p.(Glu129Lys)"	""
"0000724814"	"00018958"	"90"	"532"	"0"	"536"	"0"	"c.532_536del"	"r.(?)"	"p.(Asn178Profs*142)"	""
"0000730914"	"00018958"	"90"	"532"	"0"	"536"	"0"	"c.532_536del"	"r.(?)"	"p.(Asn178Profs*142)"	""
"0000891828"	"00018958"	"30"	"654"	"0"	"654"	"0"	"c.654C>T"	"r.(?)"	"p.(Val218=)"	""
"0000950260"	"00018958"	"30"	"348"	"0"	"348"	"0"	"c.348G>A"	"r.(?)"	"p.(=)"	""
"0000987653"	"00018958"	"70"	"547"	"0"	"547"	"0"	"c.547G>C"	"r.(?)"	"p.(Asp183His)"	""
"0000987654"	"00018958"	"70"	"547"	"0"	"547"	"0"	"c.547G>C"	"r.(?)"	"p.(Asp183His)"	""
"0000987655"	"00018958"	"70"	"547"	"0"	"547"	"0"	"c.547G>C"	"r.(?)"	"p.(Asp183His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000292234"	"0000648923"
"0000333343"	"0000730914"
"0000453140"	"0000987653"
"0000453141"	"0000987654"
"0000453142"	"0000987655"