### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GNAT2)
# 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}}"
"GNAT2"	"guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2"	"1"	"p13"	"unknown"	"NG_009099.2"	"UD_132119050317"	""	"http://www.LOVD.nl/GNAT2"	""	"1"	"4394"	"2780"	"139340"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/GNAT2_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-04 00:00:00"	"00006"	"2024-03-13 09:49:27"	"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}}"
"00008648"	"GNAT2"	"guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2"	"001"	"NM_005272.3"	""	"NP_005263.1"	""	""	""	"-213"	"1152"	"1065"	"110155705"	"110145889"	""	"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}}"
"03469"	"ACHM4"	"achromatopsia, type 4 (ACHM-4)"	""	"613856"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04230"	"ACHM"	"achromatopsia (ACHM)"	""	""	""	""	""	"00006"	"2015-03-22 20:43:12"	""	""
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"GNAT2"	"03469"
"GNAT2"	"04230"


## Individuals ## Do not remove or alter this header ##
## Count = 84
"{{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}}"
"00299642"	""	""	""	"1"	""	"00006"	"{PMID:Arno 2017:28132693}"	"3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	""	""	"0"	""	""	""	"FamGC17880Pat3"
"00308663"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00320064"	""	""	""	"1"	""	"00008"	"{PMID:Johnson 2004:14757870}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00324249"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324277"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324278"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324279"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324280"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324281"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324282"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00324283"	""	""	""	"1"	""	"00008"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	""	""	"0"	""	""	""	""
"00328175"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"American"	"G007665"
"00328502"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15011628"
"00332231"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB301"
"00359016"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13007934"
"00374988"	""	""	""	"1"	""	"00000"	"{PMID:Dubis 2015:25277229}"	""	"M"	""	""	""	"0"	""	""	""	"JC_1064"
"00374989"	""	""	""	"1"	""	"00000"	"{PMID:Dubis 2015:25277229}"	""	"M"	""	""	""	"0"	""	""	""	"JC_1065"
"00381138"	""	""	""	"1"	""	"00008"	"{PMID:Sundaram_2014:24148654}"	""	"M"	""	""	""	"0"	""	""	""	""
"00381139"	""	""	""	"1"	""	"00008"	"{PMID:Sundaram_2014:24148654}"	""	"M"	""	""	""	"0"	""	""	""	""
"00381140"	""	""	""	"1"	""	"00008"	"{PMID:Sundaram_2014:24148654}"	""	"F"	""	""	""	"0"	""	""	""	""
"00381141"	""	""	""	"1"	""	"00008"	"{PMID:Sundaram_2014:24148654}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383429"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383509"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00384138"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2579"
"00385171"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"64"
"00386195"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-311"
"00386197"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-315"
"00386200"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-319"
"00386218"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-173, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-342"
"00388947"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"231"
"00388948"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"232"
"00389877"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 824, achromatopsia, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1161"
"00390266"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G007665"
"00391808"	""	""	""	"1"	""	"00006"	"{PMID:Langlo 2014:274798146}"	""	"M"	""	"United States"	""	"0"	""	""	""	"CEI-001"
"00391881"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32913385}"	""	"F"	""	"China"	""	"0"	""	""	""	"8296"
"00393982"	""	""	""	"1"	""	"00000"	"{PMID:Brunetti-Pierri_2021:33562422}"	""	""	"yes"	""	""	"0"	""	""	"Italian"	""
"00393983"	""	""	""	"1"	""	"00000"	"{PMID:Brunetti-Pierri_2021:33562422}"	""	""	"yes"	""	""	"0"	""	""	"Italian"	""
"00393984"	""	""	""	"1"	""	"00000"	"{PMID:Brunetti-Pierri_2021:33562422}"	""	""	"yes"	""	""	"0"	""	""	"Italian"	""
"00415550"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2002:12077706}"	""	"M"	""	"Italy"	""	"0"	""	""	"Italian"	"CHRO53_II:1"
"00415551"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2002:12077706}"	""	"M"	""	"Italy"	""	"0"	""	""	"Italian"	"CHRO53_II:2"
"00415552"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2002:12077706}"	"ancestry same geographic region in southern Italy"	"F"	"likely"	"Italy"	""	"0"	""	""	"Southern Italian"	"CHRO68_II:2"
"00415553"	""	""	""	"2"	""	"00000"	"{PMID:Kohl 2002:12077706}, {PMID:Rosenberg 2004:15557429}, {PMID:Andersen 2023:36980963}"	"family, 2 affected"	"M"	"likely"	"Denmark"	""	"0"	""	""	""	"CHRO87_III4;?;Fam101Pat79"
"00415554"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2002:12077706}"	""	"M"	"yes"	"Germany"	""	"0"	""	""	"German"	"CHRO94_II:3"
"00415555"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2002:12077706}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	"Turkish"	"CHRO22_II:1"
"00415556"	""	""	""	"1"	""	"00000"	"{PMID:Kohl 2002:12077706}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	"Turkish"	"CHRO22_II:2"
"00415557"	""	""	""	"1"	""	"00000"	"{PMID:Aligianis 2002:12205108}"	"fully described phenotypes in {PMID:Michaelides 2003:14609822}; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives"	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"V:8"
"00415558"	""	""	""	"1"	""	"00000"	"{PMID:Aligianis 2002:12205108}"	"fully described phenotypes in {PMID:Michaelides 2003:14609822}; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives"	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"VI:2"
"00415559"	""	""	""	"1"	""	"00000"	"{PMID:Aligianis 2002:12205108}"	"fully described phenotypes in {PMID:Michaelides 2003:14609822}; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives"	"F"	"yes"	""	""	"0"	""	""	"Pakistani"	"VI:5"
"00415560"	""	""	""	"1"	""	"00000"	"{PMID:Aligianis 2002:12205108}"	"fully described phenotypes in {PMID:Michaelides 2003:14609822}; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives"	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"VI:7"
"00415561"	""	""	""	"1"	""	"00000"	"{PMID:Aligianis 2002:12205108}"	"fully described phenotypes in {PMID:Michaelides 2003:14609822}; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives"	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"VII:1"
"00415562"	""	""	""	"1"	""	"00000"	"{PMID:Aligianis 2002:12205108}"	"fully described phenotypes in {PMID:Michaelides 2003:14609822}; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives"	"F"	"yes"	""	""	"0"	""	""	"Pakistani"	"VII:3"
"00415563"	""	""	""	"1"	""	"00000"	"{PMID:Pina 2004:15094710}"	"French-Canadian family, proband; mutation also carried by unaffected family members: father, brother and son - no segregation"	""	""	""	""	"0"	""	""	"French-Canadian"	"I:1"
"00415775"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2004:15459792}"	""	"M"	""	""	""	"0"	""	""	""	"F109_386"
"00415776"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2004:15459792}"	""	"M"	""	""	""	"0"	""	""	""	"F109_11"
"00415781"	""	""	"00415553"	"1"	""	"00000"	"{PMID:Rosenberg 2004:15557429}, {PMID:Andersen 2023:36980963}"	"proband\'s paternal cousin (Pat79)"	"M"	""	"Denmark"	""	"0"	""	""	""	"CHRO87III2;Fam101Pat83"
"00415783"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 1-G"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 3"
"00415784"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 1-G"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 4"
"00415785"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 1-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 5"
"00415786"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 1-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 6"
"00415787"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 1-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 42"
"00415788"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 1-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 30"
"00415789"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 2-G"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 10"
"00415790"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 3-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 22"
"00415791"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 4-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 28"
"00415792"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 4-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 29"
"00415793"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 5-G"	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 36"
"00415794"	""	""	""	"1"	""	"00000"	"{PMID:Ouechtati 2011:21107338}"	"family ACH, loop 6-G"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	"ACH 43"
"00415795"	""	""	""	"1"	""	"00000"	"{PMID:Ueno 2016:27718025}"	""	"M"	"no"	""	""	"0"	""	""	""	"?"
"00415796"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"Chilean / French"	"BCM274-II:1"
"00415797"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"F"	""	""	""	"0"	""	""	"Morocco"	"CHRO1094-II:1"
"00415798"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"German"	"CHRO276-II:1"
"00415799"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"Turkish"	"CHRO330-II:1"
"00415800"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"F"	""	""	""	"0"	""	""	"Spanish"	"CHRO469-II:1"
"00415801"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"Spanish"	"CHRO555-II:1"
"00415802"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"Belgian"	"CHRO589-II:1"
"00415803"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"F"	""	""	""	"0"	""	""	"Spanish"	"CHRO684-II:1"
"00415804"	""	""	""	"2"	""	"00000"	"{PMID:Felden 2019:31058429}, {PMID:Andersen 2023:36980963}"	"family, 2 affected"	"F"	""	"Denmark"	""	"0"	""	""	""	"CHRO73-II:1;Fam202Pat57"
"00415805"	""	""	"00415804"	"1"	""	"00000"	"{PMID:Felden 2019:31058429},{PMID:Andersen 2023:36980963}"	"sib"	"M"	""	"Denmark"	""	"0"	""	""	""	"CHRO73-II:2;Fam202Pat82"
"00415806"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"F"	""	""	""	"0"	""	""	"French"	"CHRO752-II:1"
"00415807"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"Pakistani"	"CHRO798-II:1"
"00415808"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"German"	"CHRO824-II:1"
"00415809"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"M"	""	""	""	"0"	""	""	"French"	"CHRO946-II:1"
"00415810"	""	""	""	"1"	""	"00000"	"{PMID:Felden 2019:31058429}"	""	"F"	""	""	""	"0"	""	""	"German"	"ZD80-II:1"
"00450845"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"074078"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 84
"{{individualid}}"	"{{diseaseid}}"
"00299642"	"04214"
"00308663"	"04214"
"00320064"	"04214"
"00324249"	"04214"
"00324277"	"04214"
"00324278"	"04214"
"00324279"	"04214"
"00324280"	"04214"
"00324281"	"04214"
"00324282"	"04214"
"00324283"	"04214"
"00328175"	"04214"
"00328502"	"04214"
"00332231"	"04214"
"00359016"	"04214"
"00374988"	"04214"
"00374989"	"04214"
"00381138"	"04214"
"00381139"	"04214"
"00381140"	"04214"
"00381141"	"04214"
"00383429"	"04214"
"00383509"	"04214"
"00384138"	"04214"
"00385171"	"04214"
"00386195"	"04214"
"00386197"	"04214"
"00386200"	"04214"
"00386218"	"04214"
"00388947"	"04214"
"00388948"	"04214"
"00389877"	"04214"
"00390266"	"04214"
"00391808"	"04214"
"00391881"	"04214"
"00393982"	"04214"
"00393983"	"04214"
"00393984"	"04214"
"00415550"	"04214"
"00415551"	"04214"
"00415552"	"04214"
"00415553"	"04214"
"00415554"	"04214"
"00415555"	"04214"
"00415556"	"04214"
"00415557"	"04214"
"00415558"	"04214"
"00415559"	"04214"
"00415560"	"04214"
"00415561"	"04214"
"00415562"	"04214"
"00415563"	"04214"
"00415775"	"04214"
"00415776"	"04214"
"00415781"	"04214"
"00415783"	"04214"
"00415784"	"04214"
"00415785"	"04214"
"00415786"	"04214"
"00415787"	"04214"
"00415788"	"04214"
"00415789"	"04214"
"00415790"	"04214"
"00415791"	"04214"
"00415792"	"04214"
"00415793"	"04214"
"00415794"	"04214"
"00415795"	"04214"
"00415796"	"04214"
"00415797"	"04214"
"00415798"	"04214"
"00415799"	"04214"
"00415800"	"04214"
"00415801"	"04214"
"00415802"	"04214"
"00415803"	"04214"
"00415804"	"04214"
"00415805"	"04214"
"00415806"	"04214"
"00415807"	"04214"
"00415808"	"04214"
"00415809"	"04214"
"00415810"	"04214"
"00450845"	"04249"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03469, 04214, 04230, 04249
## Count = 84
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000226952"	"04214"	"00299642"	"00006"	"Familial, autosomal recessive"	"38y"	"see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165"	"30y"	""	""	""	""	""	""	"RP78"	"retinitis pigmentosa"
"0000234091"	"04214"	"00308663"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"
"0000242108"	"04214"	"00320064"	"00008"	"Familial, autosomal recessive"	""	"age: 20y"	""	""	""	""	""	""	""	""	"Achromatopsia (ACHM)"
"0000242819"	"04214"	"00324249"	"00008"	"Familial"	"32y"	""	""	""	""	""	""	""	""	""	"achromatopsia (ACHM)"
"0000242847"	"04214"	"00324277"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000242848"	"04214"	"00324278"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000242849"	"04214"	"00324279"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000242850"	"04214"	"00324280"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000242851"	"04214"	"00324281"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000242852"	"04214"	"00324282"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000242853"	"04214"	"00324283"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""
"0000246402"	"04214"	"00328175"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000246728"	"04214"	"00328502"	"00000"	"Familial, autosomal recessive"	"4y"	"cone dysfunction syndrome  (HP:0030637), language delay (HP:0002474)"	""	""	""	""	""	""	""	""	"cone dysfunction syndrome"
"0000250418"	"04214"	"00332231"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"achromatopsia"
"0000254313"	"04214"	"00359016"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"
"0000270198"	"04214"	"00374988"	"00000"	"Familial, autosomal recessive"	"52y"	"see paper; ..., no foveal hypoplasia"	""	""	""	""	""	""	""	""	"achromatopsia"
"0000270199"	"04214"	"00374989"	"00000"	"Familial, autosomal recessive"	"43y"	"see paper; ..., no foveal hypoplasia"	""	""	""	""	""	""	""	""	"achromatopsia"
"0000274989"	"04214"	"00381138"	"00000"	"Unknown"	"29y"	""	""	""	""	""	""	""	""	""	"Achromatopsia (ACHM)"
"0000274990"	"04214"	"00381139"	"00000"	"Unknown"	"43y"	""	""	""	""	""	""	""	""	""	"Achromatopsia (ACHM)"
"0000274991"	"04214"	"00381140"	"00000"	"Unknown"	"49y"	""	""	""	""	""	""	""	""	""	"Achromatopsia (ACHM)"
"0000274992"	"04214"	"00381141"	"00000"	"Unknown"	"52y"	""	""	""	""	""	""	""	""	""	"Achromatopsia (ACHM)"
"0000277214"	"04214"	"00383429"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy"
"0000277294"	"04214"	"00383509"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Cone dystrophy"
"0000277923"	"04214"	"00384138"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy"
"0000278967"	"04214"	"00385171"	"00000"	"Familial, autosomal recessive"	"4y11m"	"HP:0000750 Delayed speech and language development; HP:0000548 Cone/cone-rod dystrophy"	""	""	""	""	""	""	""	""	"Autosomal Recessive Cone dystrophy"
"0000279998"	"04214"	"00386195"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000280000"	"04214"	"00386197"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000280003"	"04214"	"00386200"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000280021"	"04214"	"00386218"	"00000"	"Familial, autosomal recessive"	"47y"	""	""	"30y"	""	""	""	""	""	"Stargardt Disease"	""
"0000282488"	"04214"	"00388947"	"00000"	"Familial, autosomal recessive"	"58y"	"age at genetic diagnosis mentioned"	""	"52y"	""	""	""	""	""	"cone dystrophy"	""
"0000282489"	"04214"	"00388948"	"00000"	"Familial, autosomal recessive"	"89y"	"age at genetic diagnosis mentioned"	""	"83y"	""	""	""	""	""	"cone dystrophy"	""
"0000283418"	"04214"	"00389877"	"00000"	"Familial, autosomal recessive"	"32y"	"age at genetic diagnosis mentioned"	""	"25y"	""	""	""	""	""	"achromatopsia"	""
"0000283804"	"04214"	"00390266"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000285121"	"04214"	"00391808"	"00006"	"Familial, autosomal recessive"	"18y"	"see paper; ..."	""	""	""	""	""	""	""	""	"achromatopsia"
"0000285171"	"04214"	"00391881"	"00000"	"Unknown"	""	"fundus: poor foveal reflex"	""	"12y"	"na"	""	""	""	""	""	"cone-rod dystrophy"
"0000287188"	"04214"	"00393982"	"00000"	"Familial, autosomal recessive"	"7y"	""	""	""	""	""	""	""	""	""	"Achromatopsia"
"0000287189"	"04214"	"00393983"	"00000"	"Familial, autosomal recessive"	"5y"	""	""	""	""	""	""	""	""	""	"Achromatopsia"
"0000287190"	"04214"	"00393984"	"00000"	"Familial, autosomal recessive"	"2y"	""	""	""	""	""	""	""	""	""	"Achromatopsia"
"0000307330"	"04214"	"00415550"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307331"	"04214"	"00415551"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307332"	"04214"	"00415552"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307333"	"04214"	"00415553"	"00000"	"Familial, autosomal recessive"	"31y"	"3y: congenital nystagmus and low vision; unrelated parents, born at term after an uncomplicated pregnancy; father red-green color-blind with normal vision, paternal cousin had congenital nystagmus; alternating esotropia and pendular, coarse, horizontal nystagmus present; cycloplegic retinoscopy of the right/left eye: +6.0 D / +8.0; best corrected visual acuity: 0.2; fundus: normal, except for absent foveal reflexes and a slight grayish discoloration in the perifoveal region; 16y: moderate photophobia and some difficulties with color discrimination; best corrected visual acuity right/left eye: 0.1 / 0.1; emmetropia; fundus: golden foveal reflex; identified none of the Ishihara plates, except for the first, but able to name 17 standard colors (DS735) correctly, identified six plates of the AOHRR screening series - mild red-green defect; F-M D-15: with diagonal errors in axes between deutan and scotopic; failed to identify any colors in Berson\'s blue cone monochromacy test; Nagel anomal; full-field electroretinogram: slightly subnormal scotopic recordings of rod-generated signals in contrast to a complete absence of the cone-elicited flicker, white single flashes on the light-adapting background generated a rod-like response, blue cone signal completely, narrow bandpass filtering - a rudimentary cone flicker response of 0.5 uV; multifocal electroretinogram: no recognizable cone pattern; remaining eye examination, including Goldmann perimetry: unremarkable 30y: refraction: right / left eye:+6.0 D / +7.0 D; best corrected visual acuity right/left eye: 0.05 / 0.1 otherwise status unchanged"	"00y00m"	""	"congenital nystagmus"	""	""	""	""	"achromatopsia"	""
"0000307334"	"04214"	"00415554"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307335"	"04214"	"00415555"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307336"	"04214"	"00415556"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307337"	"04214"	"00415557"	"00000"	"Familial, autosomal recessive"	""	"whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307338"	"04214"	"00415558"	"00000"	"Familial, autosomal recessive"	""	"whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307339"	"04214"	"00415559"	"00000"	"Familial, autosomal recessive"	""	"whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307340"	"04214"	"00415560"	"00000"	"Familial, autosomal recessive"	""	"whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307341"	"04214"	"00415561"	"00000"	"Familial, autosomal recessive"	""	"whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307342"	"04214"	"00415562"	"00000"	"Familial, autosomal recessive"	""	"whole family description: history of nystagmus from infancy, marked photophobia, defective colour vision, poor visual acuity; fundus: mild foveal atrophic changes; visual impairment was non-progressive; one affected subject had electroretinography: normal rod responses but absent cone function"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307343"	"04214"	"00415563"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000307553"	"04214"	"00415775"	"00000"	"Familial, autosomal recessive"	"10y"	"refraction/astigmatism: sc; best corrected visual acuity: 0.05; nystagmus; fundus: normal"	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000307554"	"04214"	"00415776"	"00000"	"Familial, autosomal recessive"	"9y"	"refraction/astigmatism: sc; best corrected visual acuity: 0.0S; nystagmus; fundus: normal"	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000307559"	"04214"	"00415781"	"00000"	"Familial, autosomal recessive"	"44y"	"6y: low vision and congenital nystagmus; 30y: no photophobia and any color discrimination difficulties; best corrected visual acuity and refraction right / left eye: 0.2, -4.50 sphere / 0.3, -2.0 sphere, -2.0 cyl x 30deg; horizontal nystagmus, with a rotator component and variable amplitude and frequency; Ishihara plates correctly identified except for plate 12 (87 instead of 97), plate 14 (6 instead of 5), and plate 73 (13 instead of 73) - mistakes may be due to reduced visual acuity as much as to any color vision deficiency; Four of six of the red-green plates in the AOHRR screening series identified, diagnostic series without mistakes; F-M D-15 tests: a few insignificant inversions; LTA and Berson\'s blue cone monochromacy tests: read correctly, error score of 107 with the F-M 100; in contrast, Nagel anomaloscope: protanomalous color vision defect; electroretinogram: slightly subnormal rod responses and totally absent cone responses to flicker stimulation; small rod-like signal appash stimulation on a light-adapting background; no blue cone response, narrow band-pass filtering: a flicker response near the noise level of 0.2 uV; multifocal electroretinogram: no recognizable cone pattern; remaining eye examinations normal, including biphasic dark adaptometry and Goldmann perimetry"	"0m"	""	"congenital nystagmus"	""	""	""	""	"incomplete achromatopsia"	""
"0000307561"	"04214"	"00415783"	"00000"	"Familial, autosomal recessive"	"25y"	"best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307562"	"04214"	"00415784"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307563"	"04214"	"00415785"	"00000"	"Familial, autosomal recessive"	"13y"	"best corrected visual acuity right, left eye: 20/200, 20/200; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307564"	"04214"	"00415786"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right, left eye: 20/100, 20/100; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307565"	"04214"	"00415787"	"00000"	"Familial, autosomal recessive"	"19y"	"nystagmus: severe; photophobia"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307566"	"04214"	"00415788"	"00000"	"Familial, autosomal recessive"	"37y"	"best corrected visual acuity right, left eye: 20/100, 20/100; nystagmus: transient; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal; additional findings: oligospermia"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307567"	"04214"	"00415789"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307568"	"04214"	"00415790"	"00000"	"Familial, autosomal recessive"	"15y"	"best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307569"	"04214"	"00415791"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: severe; photophobia; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307570"	"04214"	"00415792"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right, left eye: 20/400, o20/400; nystagmus: severe; photophobia, no colour vision; cone electroretinogram; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307571"	"04214"	"00415793"	"00000"	"Familial, autosomal recessive"	"8y"	"best corrected visual acuity right, left eye: 20/400, 20/400; nystagmus: transient; photophobia; cone electroretinogram: no response; fundus: normal"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307572"	"04214"	"00415794"	"00000"	"Familial, autosomal recessive"	"10y"	"nystagmus: severe; photophobia"	""	""	""	""	""	""	""	"complete achromatopsia"	""
"0000307573"	"04214"	"00415795"	"00000"	"Familial, autosomal recessive"	"17y"	"decimal best-corrected visual acuity (BCVA) and refraction right / left eye: 0.09 with -1.5 diopters sphere (DS), -1.5 D cylinder (DC) ax 70deg / 0.08 with -2.75 DS,  -2.0 DC ax 180deg; PD-15 test: several crossing lines between the deutan and tritan axes in both eyes - totally color-blind patient; Goldmann perimetry: central scotoma; slit-lamp and ophthalmoscopic examination: no abnormalities; fundus autofluorescence: no specific abnormal patterns ; spectral domain optical coherence tomography horizontal and vertical cross-sectional images: ellipsoid zone clearly intact; cone interdigitation zone unified with the ellipsoid zone, not identified distinctly; bulging of the ellipsoid zone at the central fovea (the foveal bulge) in the vertical image, but not in the horizontal scan images because the image was not centered; full-field scotopic electroretinograms amplitudes dark-adapted 0.01, 3.0, and 10.0: normal; photopic electroretinograms, light-adapted 3.0 and 30 Hz flicker: nonrecordable, indicating normal rod function and an absence of cone function; Adaptive optics (AO) retinal imaging: well-defined cone photoreceptor mosaics; images centered at 500 and 1000 lm nasal and temporal from the fovea - clearly defined cone mosaics; cone mosaic of the patient comparable normal eyes; cone density at the foveal center: too high, cone diameter: too small and exceeded the resolution limits of the camera in the eyes of both the patient and the controls; average axial length of both the patient’s eyes: 23.9 mm; cone densities: at 1000 lm from the fovea on both the nasal and the temporal sides: normal, at 500 lm from the fovea: 15-30 % lower than controls; value at 500 lm from the fovea was below the mean -2 standard deviation of that of the normal ey"	"0m"	""	"severe photophobia, poor visual acuity, color blindness"	""	""	""	""	"complete achromatopsia"	""
"0000307574"	"04214"	"00415796"	"00000"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity right, left eye: 20/100, 20/100; refraction right, left eye: -5.5 -0.75/155deg, -7.0 -1/5deg; fundus: modified fundus reflex; optical coherence tomography: foveal thinning and granular ellipsoid zone; fundus autofluorescence: oval hypofluorescent fovea; color vision (test method): tritanomaly; full-field electroretinogram: photopic: reduced flicker: reduced scotopic: normal; photophobia: mild; nystagmus: no"	"6y"	""	"6y: poor vision, strabismus"	""	""	""	""	"incomplete achromatopsia"	""
"0000307575"	"04214"	"00415797"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right, left eye: 20/100, 20/100; refraction right, left eye: -7.0 -3.75/10deg, -6.75 -3.25/170deg; fundus: myopic fundus with peripapillary atrophy and tilted disc; optical coherence tomography: foveal hyporeflective ellipsoid zone; fundus autofluorescence: Perifoveal hyperfluores -cent ring; color vision (test method): tritanomaly; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"<8y"	""	"early childhood: poor vision, nystagmus, photophobia, strabismus"	""	""	""	""	"incomplete achromatopsia"	""
"0000307576"	"04214"	"00415798"	"00000"	"Familial, autosomal recessive"	"25y"	"best corrected visual acuity right, left eye: 20/125, 20/125; refraction right, left eye: 2.75 -0.75/168deg 3.0 -1.25/8deg; fundus: normal; optical coherence tomography: foveal inner limiting membrane thickening; fundus autofluorescence: normal; color vision (test method): achromat (anomaloscope); full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"<18y"	""	"childhood: low vision"	""	""	""	""	"complete achromatopsia"	""
"0000307577"	"04214"	"00415799"	"00000"	"Familial, autosomal recessive"	""	"fundus: normal; full-field electroretinogram: photopic: no response scotopic: normal"	""	""	""	""	""	""	""	"achromatopsia"	""
"0000307578"	"04214"	"00415800"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right, left eye: 20/400, 20/400; refraction right, left eye: +4.0 +0.5/70deg, +4.0 +0.5/70deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): achromat (Ishihara); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"5y"	""	"5y: poor vision and color vision, photophobia"	""	""	""	""	"achromatopsia"	""
"0000307579"	"04214"	"00415801"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: -3.50 -1.25/95deg, -2.25 -1.25/85deg; fundus: Normal,, small peripheral pigment clump; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): abnormal (Ishihara, Farnsworth); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: no"	"3y"	""	"3y: poor vision and color vision, adaptation problems"	""	""	""	""	"achromatopsia"	""
"0000307580"	"04214"	"00415802"	"00000"	"Familial, autosomal recessive"	"3m"	"best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +2.0+2.0/105deg, +2.5+1.5/75deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara), color vision possible in daily life; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"3m"	""	"3 months: rotatory nystagmus, poor vision"	""	""	""	""	"achromatopsia"	""
"0000307581"	"04214"	"00415803"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity right, left eye: 20/200, 20/160; refraction right, left eye: -6.0, -6.0; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: no data; color vision (test method): no data; full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: no data"	"<8y"	""	"early childhood: low vision, photophobia"	""	""	""	""	"achromatopsia"	""
"0000307582"	"04214"	"00415804"	"00000"	"Familial, autosomal recessive"	"38y"	"best corrected visual acuity right, left eye: 20/240, 20/240; refraction right, left eye: -1.5 -1.0/10deg, -1.5 -1.0/170deg; fundus: normal, slightly pale; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): abnormal (Ishihara); full-field electroretinogram: no data; photophobia: yes; nystagmus: yes"	"11y"	""	"11y: nystagmus, photophobia"	""	""	""	""	"achromatopsia"	""
"0000307583"	"04214"	"00415805"	"00000"	"Familial, autosomal recessive"	"50y"	"best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +1.0, +1.0; fundus: macular drusen; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): mixed misplacements (Farnsworth); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"10y"	""	"10y: colour blindness, photophobia"	""	""	""	""	"achromatopsia"	""
"0000307584"	"04214"	"00415806"	"00000"	"Familial, autosomal recessive"	"18y"	"best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: -4.5 -4/180deg, -3.25 -4.5/180deg; fundus: modified fundus reflex; optical coherence tomography: foveal hyporeflective ellipsoid zone; fundus autofluorescence: no data; color vision (test method): tritanomaly; full-field electroretinogram: photopic: severely reduced flicker: severely reduced scotopic: normal; photophobia: yes; nystagmus: yes"	"<8y"	""	"early childhood: poor vision, nystagmus"	""	""	""	""	"achromatopsia"	""
"0000307585"	"04214"	"00415807"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right, left eye: <20/120, <20/120; refraction right, left eye: 0.0, 0.0 +1.0/100deg; fundus: modified fundus reflex; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): no data; full-field electroretinogram: no data; photophobia: yes; nystagmus: yes"	"2y"	""	"2y: poor vision"	""	""	""	""	"achromatopsia/CD"	""
"0000307586"	"04214"	"00415808"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right, left eye: 20/200, 20/200; refraction right, left eye: +1.75 -4.0/21deg, +0.25 -5.0/167deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): no data; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"<8y"	""	"early childhood: color vision problems"	""	""	""	""	"incomplete achromatopsia"	""
"0000307587"	"04214"	"00415809"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity right, left eye: 20/50, 20/63; refraction right, left eye: +8.0 -2.25/25deg, +8.0 -1.75/5deg; fundus: normal; optical coherence tomography: foveal inner limiting membrane thickening; fundus autofluorescence: normal; color vision (test method): nearly normal; full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: yes"	"0m"	""	"congenital nystagmus"	""	""	""	""	"incomplete achromatopsia/O T"	""
"0000307588"	"04214"	"00415810"	"00000"	"Familial, autosomal recessive"	"56y"	"best corrected visual acuity right, left eye: 20/80, 20/63; refraction right, left eye: 0, +0.75 -0.75/28deg; fundus: normal; optical coherence tomography: normal; fundus autofluorescence: normal; color vision (test method): mixed displacements (Lanthony), nearly normal (Farnswort); full-field electroretinogram: photopic: no response scotopic: normal; photophobia: yes; nystagmus: no"	"0m"	""	"birth: low vision"	""	""	""	""	"incomplete achromatopsia"	""
"0000339900"	"04249"	"00450845"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"


## Screenings ## Do not remove or alter this header ##
## Count = 84
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000300752"	"00299642"	"1"	"00006"	"00006"	"2020-04-18 08:53:03"	"00006"	"2020-04-18 09:16:30"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000309808"	"00308663"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000321248"	"00320064"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000325439"	"00324249"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325467"	"00324277"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325468"	"00324278"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325469"	"00324279"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325470"	"00324280"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325471"	"00324281"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325472"	"00324282"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000325473"	"00324283"	"1"	"00008"	"00008"	"2020-12-04 05:00:09"	""	""	"SEQ"	"DNA"	""	""
"0000329390"	"00328175"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329717"	"00328502"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333451"	"00332231"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360254"	"00359016"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000376182"	"00374988"	"1"	"00000"	"00006"	"2021-05-27 19:02:46"	""	""	"SEQ"	"DNA"	""	""
"0000376183"	"00374989"	"1"	"00000"	"00006"	"2021-05-27 19:02:46"	""	""	"SEQ"	"DNA"	""	""
"0000382353"	"00381138"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382354"	"00381139"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382355"	"00381140"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382356"	"00381141"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384654"	"00383429"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384734"	"00383509"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000385363"	"00384138"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000386400"	"00385171"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000387424"	"00386195"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387426"	"00386197"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387429"	"00386200"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387447"	"00386218"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000390190"	"00388947"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000390191"	"00388948"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000391120"	"00389877"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000391507"	"00390266"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000393051"	"00391808"	"1"	"00006"	"00006"	"2021-11-19 11:19:46"	""	""	"SEQ"	"DNA"	""	""
"0000393123"	"00391881"	"1"	"00000"	"03840"	"2021-11-19 15:06:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"Whole-exome or targeted sequencing"
"0000395230"	"00393982"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000395231"	"00393983"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000395232"	"00393984"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000416831"	"00415550"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416832"	"00415551"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416833"	"00415552"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416834"	"00415553"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416835"	"00415554"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416836"	"00415555"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416837"	"00415556"	"1"	"00000"	"03840"	"2022-08-15 13:27:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416838"	"00415557"	"1"	"00000"	"03840"	"2022-08-15 14:16:04"	""	""	"STR;arraySNP;SEQ"	"DNA"	"blood"	""
"0000416839"	"00415558"	"1"	"00000"	"03840"	"2022-08-15 14:16:04"	""	""	"STR;arraySNP;SEQ"	"DNA"	"blood"	""
"0000416840"	"00415559"	"1"	"00000"	"03840"	"2022-08-15 14:16:04"	""	""	"STR;arraySNP;SEQ"	"DNA"	"blood"	""
"0000416841"	"00415560"	"1"	"00000"	"03840"	"2022-08-15 14:16:04"	""	""	"STR;arraySNP;SEQ"	"DNA"	"blood"	""
"0000416842"	"00415561"	"1"	"00000"	"03840"	"2022-08-15 14:16:04"	""	""	"STR;arraySNP;SEQ"	"DNA"	"blood"	""
"0000416843"	"00415562"	"1"	"00000"	"03840"	"2022-08-15 14:16:04"	""	""	"STR;arraySNP;SEQ"	"DNA"	"blood"	""
"0000416844"	"00415563"	"1"	"00000"	"03840"	"2022-08-15 15:04:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417056"	"00415775"	"1"	"00000"	"03840"	"2022-08-15 20:20:14"	""	""	"?"	"DNA"	""	""
"0000417057"	"00415776"	"1"	"00000"	"03840"	"2022-08-15 20:20:14"	""	""	"?"	"DNA"	""	""
"0000417062"	"00415781"	"1"	"00000"	"03840"	"2022-08-16 10:52:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417064"	"00415783"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417065"	"00415784"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417066"	"00415785"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417067"	"00415786"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417068"	"00415787"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417069"	"00415788"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417070"	"00415789"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417071"	"00415790"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417072"	"00415791"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417073"	"00415792"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417074"	"00415793"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417075"	"00415794"	"1"	"00000"	"03840"	"2022-08-16 12:24:58"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417076"	"00415795"	"1"	"00000"	"03840"	"2022-08-16 12:45:46"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"whole exome sequencing; CNGA3, CNGB3, PDE6C, PDE6H, and ATF6 negative"
"0000417077"	"00415796"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417078"	"00415797"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417079"	"00415798"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417080"	"00415799"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417081"	"00415800"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417082"	"00415801"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417083"	"00415802"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417084"	"00415803"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417085"	"00415804"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417086"	"00415805"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417087"	"00415806"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417088"	"00415807"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417089"	"00415808"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417090"	"00415809"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000417091"	"00415810"	"1"	"00000"	"03840"	"2022-08-16 14:45:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000452443"	"00450845"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 99
"{{screeningid}}"	"{{geneid}}"
"0000300752"	"ARHGEF18"
"0000309808"	"GNAT2"
"0000321248"	"CNGA3"
"0000321248"	"CNGB3"
"0000321248"	"GNAT2"
"0000325439"	"CNGA3"
"0000325439"	"CNGB3"
"0000325439"	"GNAT2"
"0000325467"	"CNGA3"
"0000325467"	"CNGB3"
"0000325467"	"GNAT2"
"0000325468"	"CNGA3"
"0000325468"	"CNGB3"
"0000325468"	"GNAT2"
"0000325469"	"CNGA3"
"0000325469"	"CNGB3"
"0000325469"	"GNAT2"
"0000325470"	"CNGA3"
"0000325470"	"CNGB3"
"0000325470"	"GNAT2"
"0000325471"	"CNGA3"
"0000325471"	"CNGB3"
"0000325471"	"GNAT2"
"0000325472"	"CNGA3"
"0000325472"	"CNGB3"
"0000325472"	"GNAT2"
"0000325473"	"CNGA3"
"0000325473"	"CNGB3"
"0000325473"	"GNAT2"
"0000329390"	"GNAT2"
"0000329717"	"GNAT2"
"0000376182"	"GNAT2"
"0000376183"	"GNAT2"
"0000382353"	"GNAT2"
"0000382354"	"GNAT2"
"0000382355"	"GNAT2"
"0000382356"	"GNAT2"
"0000384654"	"GNAT2"
"0000384734"	"GNAT2"
"0000385363"	"GNAT2"
"0000386400"	"GNAT2"
"0000387424"	"GNAT2"
"0000387426"	"GNAT2"
"0000387429"	"GNAT2"
"0000387447"	"ABCA4"
"0000390190"	"GNAT2"
"0000390191"	"GNAT2"
"0000391120"	"GNAT2"
"0000391507"	"GNAT2"
"0000393051"	"CNGB3"
"0000393123"	"GNAT2"
"0000395230"	"GNAT2"
"0000395231"	"GNAT2"
"0000395232"	"GNAT2"
"0000416831"	"GNAT2"
"0000416832"	"GNAT2"
"0000416833"	"GNAT2"
"0000416834"	"GNAT2"
"0000416835"	"GNAT2"
"0000416836"	"GNAT2"
"0000416837"	"GNAT2"
"0000416838"	"GNAT2"
"0000416839"	"GNAT2"
"0000416840"	"GNAT2"
"0000416841"	"GNAT2"
"0000416842"	"GNAT2"
"0000416843"	"GNAT2"
"0000416844"	"GNAT2"
"0000417056"	"GNAT2"
"0000417057"	"GNAT2"
"0000417062"	"GNAT2"
"0000417064"	"GNAT2"
"0000417065"	"GNAT2"
"0000417066"	"GNAT2"
"0000417067"	"GNAT2"
"0000417068"	"GNAT2"
"0000417069"	"GNAT2"
"0000417070"	"GNAT2"
"0000417071"	"GNAT2"
"0000417072"	"GNAT2"
"0000417073"	"GNAT2"
"0000417074"	"GNAT2"
"0000417075"	"GNAT2"
"0000417076"	"GNAT2"
"0000417077"	"GNAT2"
"0000417078"	"GNAT2"
"0000417079"	"GNAT2"
"0000417080"	"GNAT2"
"0000417081"	"GNAT2"
"0000417082"	"GNAT2"
"0000417083"	"GNAT2"
"0000417084"	"GNAT2"
"0000417085"	"GNAT2"
"0000417086"	"GNAT2"
"0000417087"	"GNAT2"
"0000417088"	"GNAT2"
"0000417089"	"GNAT2"
"0000417090"	"GNAT2"
"0000417091"	"GNAT2"


## 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 = 117
"{{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}}"
"0000277342"	"0"	"30"	"1"	"110153103"	"110153103"	"subst"	"0"	"02330"	"GNAT2_000007"	"g.110153103T>C"	""	""	""	"GNAT2(NM_005272.5):c.145A>G (p.I49V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109610481T>C"	""	"likely benign"	""
"0000277343"	"0"	"10"	"1"	"110153101"	"110153101"	"subst"	"0.00311992"	"02330"	"GNAT2_000006"	"g.110153101G>A"	""	""	""	"GNAT2(NM_001377295.2):c.147C>T (p.(Ile49=)), GNAT2(NM_005272.3):c.147C>T (p.I49=), GNAT2(NM_005272.5):c.147C>T (p.I49=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109610479G>A"	""	"benign"	""
"0000277344"	"0"	"30"	"1"	"110152708"	"110152708"	"subst"	"0.000905598"	"02330"	"GNAT2_000005"	"g.110152708C>T"	""	""	""	"GNAT2(NM_005272.5):c.257G>A (p.R86Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109610086C>T"	""	"likely benign"	""
"0000277345"	"0"	"10"	"1"	"110151318"	"110151318"	"subst"	"2.03032E-5"	"02330"	"GNAT2_000003"	"g.110151318C>T"	""	""	""	"GNAT2(NM_005272.5):c.396G>A (p.K132=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109608696C>T"	""	"benign"	""
"0000281100"	"0"	"10"	"1"	"110148974"	"110148974"	"subst"	"0.465265"	"02325"	"GNAT2_000002"	"g.110148974C>T"	""	""	""	"GNAT2(NM_005272.5):c.546G>A (p.T182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109606352C>T"	""	"benign"	""
"0000288545"	"0"	"30"	"1"	"110155371"	"110155374"	"del"	"0"	"01943"	"GNAT2_000008"	"g.110155371_110155374del"	""	""	""	"GNAT2(NM_005272.3):c.118+6_118+9delTGAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109612749_109612752del"	""	"likely benign"	""
"0000288546"	"0"	"30"	"1"	"110153101"	"110153101"	"subst"	"0.00311992"	"01943"	"GNAT2_000006"	"g.110153101G>A"	""	""	""	"GNAT2(NM_001377295.2):c.147C>T (p.(Ile49=)), GNAT2(NM_005272.3):c.147C>T (p.I49=), GNAT2(NM_005272.5):c.147C>T (p.I49=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109610479G>A"	""	"likely benign"	""
"0000288547"	"0"	"30"	"1"	"110152686"	"110152686"	"subst"	"0"	"01943"	"GNAT2_000004"	"g.110152686G>A"	""	""	""	"GNAT2(NM_005272.3):c.279C>T (p.I93=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109610064G>A"	""	"likely benign"	""
"0000342016"	"0"	"90"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"02327"	"GNAT2_000009"	"g.110149039G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.109606417G>A"	""	"pathogenic"	""
"0000502403"	"0"	"90"	"1"	"110146081"	"110146082"	"del"	"0"	"01943"	"GNAT2_000010"	"g.110146081_110146082del"	""	""	""	"GNAT2(NM_005272.3):c.960_961delCA (p.Y320*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.109603459_109603460del"	""	"pathogenic"	""
"0000502404"	"0"	"50"	"1"	"110151365"	"110151365"	"subst"	"0.000117766"	"01943"	"GNAT2_000011"	"g.110151365C>T"	""	""	""	"GNAT2(NM_005272.3):c.349G>A (p.G117R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.109608743C>T"	""	"VUS"	""
"0000502405"	"0"	"50"	"1"	"110152693"	"110152693"	"subst"	"4.06088E-6"	"01943"	"GNAT2_000012"	"g.110152693A>G"	""	""	""	"GNAT2(NM_005272.3):c.272T>C (p.L91P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.109610071A>G"	""	"VUS"	""
"0000604641"	"0"	"50"	"1"	"110146723"	"110146723"	"subst"	"4.88914E-5"	"01943"	"GNAT2_000013"	"g.110146723G>A"	""	""	""	"GNAT2(NM_005272.3):c.724C>T (p.R242C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.109604101G>A"	""	"VUS"	""
"0000663593"	"1"	"50"	"1"	"110146145"	"110146145"	"subst"	"4.47093E-5"	"00006"	"GNAT2_000014"	"g.110146145G>A"	""	"{PMID:Arno 2017:28132693}"	""	""	"heterozygous variant only, does not fit phenotype"	"Germline"	""	""	"0"	""	""	"g.109603523G>A"	""	"VUS"	""
"0000684681"	"1"	"70"	"1"	"110146704"	"110146717"	"del"	"0"	"00004"	"GNAT2_000015"	"g.110146704_110146717del"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	"c.730_743delCATGAGTCTTTGCA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000684711"	"2"	"70"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00004"	"GNAT2_000009"	"g.110149039G>A"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000704058"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00008"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Johnson 2004:14757870}"	""	"c842_843insTCAG; M280fsX291"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000708444"	"3"	"70"	"1"	"110151344"	"110151344"	"subst"	"0.00516946"	"00008"	"GNAT2_000019"	"g.110151344C>T"	""	"{PMID:Nishiguchi 2005:15712225}"	""	"p.V124M"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000708474"	"1"	"30"	"1"	"110151344"	"110151344"	"subst"	"0.00516946"	"00008"	"GNAT2_000019"	"g.110151344C>T"	""	"{PMID:Nishiguchi 2005:15712225}"	""	"p.V124M"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000708475"	"1"	"30"	"1"	"110149101"	"110149101"	"subst"	"9.76213E-5"	"00008"	"GNAT2_000018"	"g.110149101C>T"	""	"{PMID:Nishiguchi 2005:15712225}"	""	""	"Isocoding"	"Germline"	""	""	"0"	""	""	""	""	"likely benign (!)"	""
"0000708476"	"1"	"30"	"1"	"110146108"	"110146108"	"subst"	"0.0054479"	"00008"	"GNAT2_000017"	"g.110146108A>G"	""	"{PMID:Nishiguchi 2005:15712225}"	""	"p.N311N"	"Isocoding"	"Germline"	""	""	"0"	""	""	""	""	"likely benign (!)"	""
"0000708477"	"1"	"10"	"1"	"110155523"	"110155523"	"subst"	"0"	"00008"	"GNAT2_000022"	"g.110155523T>C"	"A/G=0.82/0.18 (based on 87 patients)"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000708478"	"1"	"10"	"1"	"110153020"	"110153020"	"subst"	"0"	"00008"	"GNAT2_000021"	"g.110153020A>G"	"T/C=0.98/0.02 (based on 87 patients)"	"{PMID:Nishiguchi 2005:15712225}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000708479"	"1"	"10"	"1"	"110151395"	"110151395"	"subst"	"0.0500536"	"00008"	"GNAT2_000020"	"g.110151395G>T"	"C/A=0.98/0.03 (based on 87 patients)"	"{PMID:Nishiguchi 2005:15712225}"	""	"p.L107I"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000708480"	"1"	"10"	"1"	"110148974"	"110148974"	"subst"	"0.465265"	"00008"	"GNAT2_000002"	"g.110148974C>T"	"G/A=0.63/0.37 (based on 87 patients)"	"{PMID:Nishiguchi 2005:15712225}"	""	"p.T182T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000713513"	"3"	"90"	"1"	"110146135"	"110146135"	"subst"	"0"	"00000"	"GNAT2_000023"	"g.110146135G>T"	""	"{PMID:Carss 2017:28041643}"	""	"1:110146135G>T ENST00000351050.3:c.906C>A (Tyr302Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000714074"	"3"	"70"	"1"	"110148707"	"110148707"	"subst"	"0"	"00000"	"GNAT2_000024"	"g.110148707C>T"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.109606085C>T"	""	"likely pathogenic (recessive)"	""
"0000716664"	"0"	"30"	"1"	"110148950"	"110148950"	"subst"	"0.000113699"	"01943"	"GNAT2_000025"	"g.110148950G>A"	""	""	""	"GNAT2(NM_005272.3):c.570C>T (p.S190=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000731047"	"1"	"70"	"1"	"110146145"	"110146145"	"subst"	"4.06448E-6"	"00000"	"GNAT2_000026"	"g.110146145G>T"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.109603523G>T"	""	"likely pathogenic (recessive)"	""
"0000731048"	"2"	"70"	"1"	"110148590"	"110148590"	"subst"	"0"	"00000"	"GNAT2_000027"	"g.110148590A>G"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.109605968A>G"	""	"likely pathogenic (recessive)"	""
"0000760146"	"3"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000787760"	"3"	"90"	"1"	"110146604"	"110146607"	"dup"	"0"	"00000"	"GNAT2_000029"	"g.110146604_110146607dup"	""	"{PMID:Dubis 2015:25277229}"	""	"843_844insAGTC"	""	"Germline"	""	""	"0"	""	""	"g.109603982_109603985dup"	""	"pathogenic (recessive)"	""
"0000787761"	"3"	"90"	"1"	"110146604"	"110146607"	"dup"	"0"	"00000"	"GNAT2_000029"	"g.110146604_110146607dup"	""	"{PMID:Dubis 2015:25277229}"	""	"843_844insAGTC"	""	"Germline"	""	""	"0"	""	""	"g.109603982_109603985dup"	""	"pathogenic (recessive)"	""
"0000796130"	"3"	"90"	"1"	"110146603"	"110146604"	"ins"	"0"	"00000"	"GNAT2_000030"	"g.110146603_110146604insGACT"	""	"{PMID:Sundaram_2014:24148654}"	""	"c.843-844insAGTC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796131"	"3"	"90"	"1"	"110146603"	"110146604"	"ins"	"0"	"00000"	"GNAT2_000030"	"g.110146603_110146604insGACT"	""	"{PMID:Sundaram_2014:24148654}"	""	"c.843-844insAGTC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796132"	"3"	"90"	"1"	"110146603"	"110146604"	"ins"	"0"	"00000"	"GNAT2_000030"	"g.110146603_110146604insGACT"	""	"{PMID:Sundaram_2014:24148654}"	""	"c.843-844insAGTC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796133"	"3"	"90"	"1"	"110146603"	"110146604"	"ins"	"0"	"00000"	"GNAT2_000030"	"g.110146603_110146604insGACT"	""	"{PMID:Sundaram_2014:24148654}"	""	"c.843-844insAGTC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811415"	"3"	"70"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00000"	"GNAT2_000009"	"g.110149039G>A"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.481C>T (p.Arg161*), Allele 2 c.481C>T (p.Arg161*)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.109606417G>A"	""	"likely pathogenic"	""
"0000811502"	"0"	"70"	"1"	"110146704"	"110146717"	"del"	"0"	"00000"	"GNAT2_000015"	"g.110146704_110146717del"	""	"{PMID:Kim 2019:31496144}"	""	"GNAT2 c.730_743delCATGAGTCTTTGCA, p.H244Sfs"	""	"Germline"	"?"	""	"0"	""	""	"g.109604082_109604095del"	""	"likely pathogenic"	"ACMG"
"0000811532"	"0"	"70"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00000"	"GNAT2_000009"	"g.110149039G>A"	""	"{PMID:Kim 2019:31496144}"	""	"GNAT2 c.481C>T, p.R161X"	""	"Germline"	"?"	""	"0"	""	""	"g.109606417G>A"	""	"likely pathogenic"	"ACMG"
"0000812384"	"3"	"70"	"1"	"110146637"	"110146639"	"del"	"0"	"00000"	"GNAT2_000031"	"g.110146637_110146639del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"GNAT2 Ex.7 c.811_813del  p.(Lys271del), Ex.7 c.811_813del  p.(Lys271del)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109604015_109604017del"	""	"likely pathogenic"	""
"0000813897"	"3"	"70"	"1"	"110148707"	"110148707"	"subst"	"0"	"00000"	"GNAT2_000024"	"g.110148707C>T"	""	"{PMID:Jiman 2020:31836858}"	""	"GNAT2;NM_005272.3;c.[605G>A];[605G>A];p.[(Gly202Glu)];[(Gly202Glu)]"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109606085C>T"	""	"likely pathogenic"	""
"0000815308"	"0"	"50"	"1"	"110151344"	"110151344"	"subst"	"0.00516946"	"00000"	"GNAT2_000019"	"g.110151344C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"GNAT2:NM_005272 c.G370A, p.V124M"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.109608722C>T"	""	"VUS"	"ACMG"
"0000815310"	"0"	"50"	"1"	"110151344"	"110151344"	"subst"	"0.00516946"	"00000"	"GNAT2_000019"	"g.110151344C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"GNAT2:NM_005272 c.G370A, p.V124M"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.109608722C>T"	""	"VUS"	"ACMG"
"0000815313"	"0"	"50"	"1"	"110151344"	"110151344"	"subst"	"0.00516946"	"00000"	"GNAT2_000019"	"g.110151344C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"GNAT2:NM_005272 c.G370A, p.V124M"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.109608722C>T"	""	"VUS"	"ACMG"
"0000815478"	"0"	"50"	"1"	"110146113"	"110146113"	"subst"	"0.000235631"	"00000"	"GNAT2_000032"	"g.110146113G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"GNAT2:NM_005272 c.C928T, p.L310F"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.109603491G>A"	""	"VUS"	"ACMG"
"0000819535"	"1"	"70"	"1"	"110148692"	"110148692"	"subst"	"0"	"00000"	"GNAT2_000034"	"g.110148692T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109606070T>A"	""	"likely pathogenic"	""
"0000819536"	"1"	"70"	"1"	"110148692"	"110148692"	"subst"	"0"	"00000"	"GNAT2_000034"	"g.110148692T>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109606070T>A"	""	"likely pathogenic"	""
"0000820465"	"1"	"70"	"1"	"110148723"	"110148723"	"subst"	"0"	"00000"	"GNAT2_000035"	"g.110148723T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GNAT2, variant 1: c.591-2A>C/p.?, variant 2: c.591-2A>C/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109606101T>G"	""	"likely pathogenic"	""
"0000820664"	"1"	"70"	"1"	"110146155"	"110146155"	"subst"	"8.12975E-6"	"00000"	"GNAT2_000033"	"g.110146155A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109603533A>G"	""	"likely pathogenic"	""
"0000820665"	"1"	"70"	"1"	"110146155"	"110146155"	"subst"	"8.12975E-6"	"00000"	"GNAT2_000033"	"g.110146155A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109603533A>G"	""	"likely pathogenic"	""
"0000821256"	"3"	"70"	"1"	"110146135"	"110146135"	"subst"	"0"	"00000"	"GNAT2_000023"	"g.110146135G>T"	""	"{PMID:Turro 2020:32581362}"	""	"GNAT2 c.906C>A, p.Tyr302Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.109603513G>T"	""	"likely pathogenic"	""
"0000823700"	"0"	"70"	"1"	"110151344"	"110151344"	"subst"	"0.00516946"	"00006"	"GNAT2_000019"	"g.110151344C>T"	""	"{PMID:Langlo 2014:274798146}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000823744"	"1"	"70"	"1"	"110148693"	"110148693"	"subst"	"1.21848E-5"	"00000"	"GNAT2_000036"	"g.110148693C>T"	""	"{PMID:Sun 2020:32913385}"	""	"GNAT2 c.[619G>A];[124G>C]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.109606071C>T"	""	"likely pathogenic"	""
"0000823745"	"2"	"70"	"1"	"110153124"	"110153124"	"subst"	"0"	"00000"	"GNAT2_000037"	"g.110153124C>G"	""	"{PMID:Sun 2020:32913385}"	""	"GNAT2 c.[619G>A];[124G>C]"	"heterozygous; protein change not reported"	"Unknown"	"yes"	""	"0"	""	""	"g.109610502C>G"	""	"likely pathogenic"	""
"0000826482"	"3"	"50"	"1"	"110146615"	"110146615"	"dup"	"0"	"00000"	"GNAT2_000038"	"g.110146615dup"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.832dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000826483"	"3"	"50"	"1"	"110146615"	"110146615"	"dup"	"0"	"00000"	"GNAT2_000038"	"g.110146615dup"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.832dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000826484"	"3"	"50"	"1"	"110146615"	"110146615"	"dup"	"0"	"00000"	"GNAT2_000038"	"g.110146615dup"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.832dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000826485"	"3"	"50"	"1"	"110146615"	"110146615"	"dup"	"0"	"00000"	"GNAT2_000038"	"g.110146615dup"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.832dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000826486"	"3"	"90"	"1"	"110148693"	"110148693"	"subst"	"1.21848E-5"	"00000"	"GNAT2_000036"	"g.110148693C>T"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.619G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000826487"	"3"	"90"	"1"	"110148693"	"110148693"	"subst"	"1.21848E-5"	"00000"	"GNAT2_000036"	"g.110148693C>T"	""	"{PMID:Brunetti-Pierri_2021:33562422}"	""	"c.619G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000848224"	"0"	"50"	"1"	"110148975"	"110148975"	"subst"	"2.03031E-5"	"01943"	"GNAT2_000039"	"g.110148975G>A"	""	""	""	"GNAT2(NM_005272.3):c.545C>T (p.T182M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000876278"	"1"	"70"	"1"	"110149017"	"110149017"	"dup"	"0"	"00000"	"GNAT2_000045"	"g.110149017dup"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 c.503_504insT, p.L168fsX3"	"c.503_504insT automapped to NM_005272.3:c.503dupT, p.(Ser170Ter); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109606395dup"	""	"likely pathogenic"	""
"0000876279"	"1"	"70"	"1"	"110149017"	"110149017"	"dup"	"0"	"00000"	"GNAT2_000045"	"g.110149017dup"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 c.503_504insT, p.L168fsX3"	"c.503_504insT automapped to NM_005272.3:c.503dupT, p.(Ser170Ter); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109606395dup"	""	"likely pathogenic"	""
"0000876280"	"3"	"70"	"1"	"110152730"	"110152730"	"subst"	"0"	"00000"	"GNAT2_000051"	"g.110152730G>A"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 c.235C>T, p.Q79X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109610108G>A"	""	"likely pathogenic"	""
"0000876281"	"3"	"70"	"1"	"110152674"	"110152680"	"delins"	"0"	"00000"	"GNAT2_000050"	"g.110152674_110152680delinsATACAG"	""	"{PMID:Kohl 2002:12077706}, {PMID:Rosenberg 2004:15557429}, {PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1, PM2_sup"	"Germline"	"yes"	""	"0"	""	""	"g.109610052_109610058delinsATACAG"	""	"likely pathogenic"	"ACMG"
"0000876282"	"3"	"70"	"1"	"110146641"	"110146644"	"dup"	"0"	"00000"	"GNAT2_000042"	"g.110146641_110146644dup"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 c.802_803insTCAA, p.L268fsX9"	"c.802_803insTCAA automapped to NM_005272.3:c.803_806dupTCAA; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109604019_109604022dup"	""	"likely pathogenic"	""
"0000876283"	"3"	"70"	"1"	"110150435"	"110152453"	"del"	"0"	"00000"	"GNAT2_000046"	"g.110150435_110152453del"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 IVS3+365_IVS4+974del, Exon 4 deleted"	"obsolete annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109607813_109609831del"	""	"likely pathogenic"	""
"0000876284"	"3"	"70"	"1"	"110150435"	"110152453"	"del"	"0"	"00000"	"GNAT2_000046"	"g.110150435_110152453del"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 IVS3+365_IVS4+974del, Exon 4 deleted"	"obsolete annotation; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109607813_109609831del"	""	"likely pathogenic"	""
"0000876285"	"2"	"70"	"1"	"110146088"	"110146088"	"del"	"0"	"00000"	"GNAT2_000040"	"g.110146088del"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 c.955delA, p.I319fsX5"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603466del"	""	"likely pathogenic"	""
"0000876286"	"2"	"70"	"1"	"110146088"	"110146088"	"del"	"0"	"00000"	"GNAT2_000040"	"g.110146088del"	""	"{PMID:Kohl 2002:12077706}"	""	"GNAT2 c.955delA, p.I319fsX5"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603466del"	""	"likely pathogenic"	""
"0000876287"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00000"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Aligianis 2002:12205108}"	""	"GNAT2 c842_843insTCAG; M280fsX291"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603982_109603983insCTGA"	""	"likely pathogenic"	""
"0000876288"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00000"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Aligianis 2002:12205108}"	""	"GNAT2 c842_843insTCAG; M280fsX291"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603982_109603983insCTGA"	""	"likely pathogenic"	""
"0000876289"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00000"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Aligianis 2002:12205108}"	""	"GNAT2 c842_843insTCAG; M280fsX291"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603982_109603983insCTGA"	""	"likely pathogenic"	""
"0000876290"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00000"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Aligianis 2002:12205108}"	""	"GNAT2 c842_843insTCAG; M280fsX291"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603982_109603983insCTGA"	""	"likely pathogenic"	""
"0000876291"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00000"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Aligianis 2002:12205108}"	""	"GNAT2 c842_843insTCAG; M280fsX291"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603982_109603983insCTGA"	""	"likely pathogenic"	""
"0000876292"	"3"	"70"	"1"	"110146604"	"110146605"	"ins"	"0"	"00000"	"GNAT2_000016"	"g.110146604_110146605insCTGA"	""	"{PMID:Aligianis 2002:12205108}"	""	"GNAT2 c842_843insTCAG; M280fsX291"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603982_109603983insCTGA"	""	"likely pathogenic"	""
"0000876293"	"0"	"30"	"1"	"110152755"	"110152757"	"del"	"0"	"00000"	"GNAT2_000052"	"g.110152755_110152757del"	""	"{PMID:Pina 2004:15094710}"	""	"GNAT2 deletion of basepairs AAG at positions 9066-9068, K270del"	"obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.109610133_109610135del"	""	"likely benign"	""
"0000876557"	"3"	"70"	"1"	"0"	"0"	""	"0"	"00000"	"NPHS2_000000"	"g.?"	""	"{PMID:Kellner 2004:15459792}"	""	"GNAT2 del_Exon4"	"no nucleotide annotation, extrapolated from protein and databases; probably c.303+365_461+974del; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000876558"	"3"	"70"	"1"	"0"	"0"	""	"0"	"00000"	"NPHS2_000000"	"g.?"	""	"{PMID:Kellner 2004:15459792}"	""	"GNAT2 del_Exon4"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000876571"	"11"	"70"	"1"	"110151229"	"110151229"	"subst"	"0"	"00000"	"GNAT2_000048"	"g.110151229C>T"	""	"{PMID:Rosenberg 2004:15557429}, {PMID:Andersen 2023:36980963}"	""	""	"ACMG PS3, PM2_sup, PM3; expression in COS7 cells showed  splicing defect that results in early translation termination, leaky, giving rise to small amounts of correctly spliced transcripts; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109608607C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000876572"	"21"	"70"	"1"	"110152674"	"110152680"	"delins"	"0"	"00000"	"GNAT2_000050"	"g.110152674_110152680delinsATACAG"	""	"{PMID:Rosenberg 2004:15557429},{PMID:Andersen 2023:36980963}"	""	""	"ACMG PVS1, PM2_sup"	"Germline"	"yes"	""	"0"	""	""	"g.109610052_109610058delinsATACAG"	""	"likely pathogenic (recessive)"	"ACMG"
"0000876575"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876576"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876577"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876578"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876579"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876580"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876581"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876582"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876583"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876584"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876585"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876586"	"0"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Ouechtati 2011:21107338}"	""	"GNAT2 c.937C>T, p.R313X"	"linked with three intronic variants c.119-69G>C, c.161+66A>T and c.875-31G>C;  homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876587"	"3"	"70"	"1"	"110146704"	"110146717"	"del"	"0"	"00000"	"GNAT2_000015"	"g.110146704_110146717del"	""	"{PMID:Ueno 2016:27718025}"	""	"GNAT2 c.730_743del, p.H244fs"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109604082_109604095del"	""	"likely pathogenic"	""
"0000876588"	"11"	"50"	"1"	"110146098"	"110146098"	"subst"	"0"	"00000"	"GNAT2_000041"	"g.110146098C>T"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.943G>A, p.(Asp315Asn)"	"single heterozygous variant in a recessive disease, no second pathogenic allele found"	"Germline"	"?"	""	"0"	""	""	"g.109603476C>T"	""	"VUS"	""
"0000876589"	"0"	"50"	"1"	"110146723"	"110146723"	"subst"	"4.88914E-5"	"00000"	"GNAT2_000013"	"g.110146723G>A"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.724C>T, p.(Arg242Cys)"	"single heterozygous variant in a recessive disease, no second pathogenic allele found"	"Unknown"	"?"	""	"0"	""	""	"g.109604101G>A"	""	"VUS"	""
"0000876590"	"1"	"50"	"1"	"110148689"	"110148689"	"subst"	"0"	"00000"	"GNAT2_000043"	"g.110148689C>G"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.623G>C, p.(Arg208Thr)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.109606067C>G"	""	"VUS"	""
"0000876591"	"3"	"90"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00000"	"GNAT2_000009"	"g.110149039G>A"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.481C>T, p.(Arg161*)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.109606417G>A"	""	"pathogenic"	""
"0000876592"	"3"	"70"	"1"	"110146637"	"110146639"	"del"	"0"	"00000"	"GNAT2_000031"	"g.110146637_110146639del"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.811_813delAAG, p.(Lys271del)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109604015_109604017del"	""	"likely pathogenic"	""
"0000876593"	"1"	"70"	"1"	"110155386"	"110155386"	"subst"	"0"	"00000"	"GNAT2_000054"	"g.110155386A>C"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.107T>G, p.(Leu36Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109612764A>C"	""	"likely pathogenic"	""
"0000876594"	"3"	"90"	"1"	"110151401"	"110151401"	"subst"	"8.12269E-6"	"00000"	"GNAT2_000049"	"g.110151401G>A"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.313C>T, p.(Arg105*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109608779G>A"	""	"pathogenic"	""
"0000876595"	"3"	"50"	"1"	"110148719"	"110148719"	"subst"	"0"	"00000"	"GNAT2_000044"	"g.110148719A>T"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.593T>A, p.(Met198Lys)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109606097A>T"	""	"VUS"	""
"0000876596"	"3"	"90"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00000"	"GNAT2_000009"	"g.110149039G>A"	""	"{PMID:Felden 2019:31058429}, {PMID:Andersen 2023:36980963}"	""	"GNAT2 c.481C>T, p.(Arg161*)"	"ACMG PVS1, PS4_mod, PM2_sup"	"Germline"	"yes"	""	"0"	""	""	"g.109606417G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000876597"	"3"	"90"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00000"	"GNAT2_000009"	"g.110149039G>A"	""	"{PMID:Felden 2019:31058429}, {PMID:Andersen 2023:36980963}"	""	"GNAT2 c.481C>T, p.(Arg161*)"	"ACMG PVS1, PS4_mod, PM2_sup"	"Germline"	"yes"	""	"0"	""	""	"g.109606417G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000876598"	"11"	"90"	"1"	"110150435"	"110152453"	"del"	"0"	"00000"	"GNAT2_000046"	"g.110150435_110152453del"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.(303+365)_(461+974)del, p.(Ala101fs*12)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109607813_109609831del"	""	"pathogenic"	""
"0000876599"	"3"	"70"	"1"	"110153109"	"110153109"	"subst"	"8.12334E-6"	"00000"	"GNAT2_000053"	"g.110153109T>C"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.139A>G, p.(Ser47Gly)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109610487T>C"	""	"likely pathogenic"	""
"0000876600"	"3"	"90"	"1"	"110148723"	"110148723"	"subst"	"0"	"00000"	"GNAT2_000035"	"g.110148723T>G"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.591-2A>C, p.?"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109606101T>G"	""	"pathogenic"	""
"0000876601"	"10"	"70"	"1"	"110146104"	"110146104"	"subst"	"1.21883E-5"	"00000"	"GNAT2_000028"	"g.110146104G>A"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.937C>T, p.(Arg313*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603482G>A"	""	"likely pathogenic"	""
"0000876602"	"21"	"50"	"1"	"110148692"	"110148692"	"subst"	"0"	"00000"	"GNAT2_000034"	"g.110148692T>A"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.620A>T, p.(Glu207Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109606070T>A"	""	"VUS"	""
"0000876603"	"2"	"90"	"1"	"110148590"	"110148590"	"subst"	"0"	"00000"	"GNAT2_000027"	"g.110148590A>G"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.720+2T>C, p.?"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.109605968A>G"	""	"pathogenic"	""
"0000876604"	"2"	"70"	"1"	"110146637"	"110146639"	"del"	"0"	"00000"	"GNAT2_000031"	"g.110146637_110146639del"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.811_813delAAG, p.(Lys271del)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.109604015_109604017del"	""	"likely pathogenic"	""
"0000876605"	"21"	"90"	"1"	"110149039"	"110149039"	"subst"	"1.6245E-5"	"00000"	"GNAT2_000009"	"g.110149039G>A"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.481C>T, p.(Arg161*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109606417G>A"	""	"pathogenic"	""
"0000876606"	"21"	"90"	"1"	"110150435"	"110152453"	"dup"	"0"	"00000"	"GNAT2_000047"	"g.110150435_110152453dup"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.(303+365)_(461+974)dup, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109607813_109609831dup"	""	"pathogenic"	""
"0000876607"	"11"	"50"	"1"	"110146155"	"110146155"	"subst"	"8.12975E-6"	"00000"	"GNAT2_000033"	"g.110146155A>G"	""	"{PMID:Felden 2019:31058429}"	""	"GNAT2 c.886T>C, p.(Tyr296His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.109603533A>G"	""	"VUS"	""
"0000986426"	"3"	"70"	"1"	"110146632"	"110146632"	"subst"	"4.06309E-6"	"04405"	"GNAT2_000055"	"g.110146632T>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.109604010T>A"	""	"likely pathogenic"	"ACMG"
"0001031039"	"0"	"30"	"1"	"110153101"	"110153101"	"subst"	"0.00311992"	"01804"	"GNAT2_000006"	"g.110153101G>A"	""	""	""	"GNAT2(NM_001377295.2):c.147C>T (p.(Ile49=)), GNAT2(NM_005272.3):c.147C>T (p.I49=), GNAT2(NM_005272.5):c.147C>T (p.I49=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 GNAT2
## Count = 117
"{{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}}"
"0000277342"	"00008648"	"30"	"145"	"0"	"145"	"0"	"c.145A>G"	"r.(?)"	"p.(Ile49Val)"	""
"0000277343"	"00008648"	"10"	"147"	"0"	"147"	"0"	"c.147C>T"	"r.(?)"	"p.(Ile49=)"	""
"0000277344"	"00008648"	"30"	"257"	"0"	"257"	"0"	"c.257G>A"	"r.(?)"	"p.(Arg86Gln)"	""
"0000277345"	"00008648"	"10"	"396"	"0"	"396"	"0"	"c.396G>A"	"r.(?)"	"p.(Lys132=)"	""
"0000281100"	"00008648"	"10"	"546"	"0"	"546"	"0"	"c.546G>A"	"r.(?)"	"p.(Thr182=)"	""
"0000288545"	"00008648"	"30"	"118"	"6"	"118"	"9"	"c.118+6_118+9del"	"r.(=)"	"p.(=)"	""
"0000288546"	"00008648"	"30"	"147"	"0"	"147"	"0"	"c.147C>T"	"r.(?)"	"p.(Ile49=)"	""
"0000288547"	"00008648"	"30"	"279"	"0"	"279"	"0"	"c.279C>T"	"r.(?)"	"p.(Ile93=)"	""
"0000342016"	"00008648"	"90"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161Ter)"	""
"0000502403"	"00008648"	"90"	"960"	"0"	"961"	"0"	"c.960_961del"	"r.(?)"	"p.(Tyr320Ter)"	""
"0000502404"	"00008648"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Gly117Arg)"	""
"0000502405"	"00008648"	"50"	"272"	"0"	"272"	"0"	"c.272T>C"	"r.(?)"	"p.(Leu91Pro)"	""
"0000604641"	"00008648"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242Cys)"	""
"0000663593"	"00008648"	"50"	"896"	"0"	"896"	"0"	"c.896C>T"	"r.(?)"	"p.(Ala299Val)"	""
"0000684681"	"00008648"	"70"	"730"	"0"	"743"	"0"	"c.730_743del"	"r.(?)"	"p.(His244Serfs*7)"	""
"0000684711"	"00008648"	"70"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	""
"0000704058"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000708444"	"00008648"	"70"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Met)"	"4"
"0000708474"	"00008648"	"30"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Met)"	"4"
"0000708475"	"00008648"	"30"	"462"	"-43"	"462"	"-43"	"c.462-43G>A"	"r.(=)"	"p.(=)"	"4i"
"0000708476"	"00008648"	"30"	"933"	"0"	"933"	"0"	"c.933T>C"	"r.(=)"	"p.(=)"	"8"
"0000708477"	"00008648"	"10"	"-31"	"0"	"-31"	"0"	"c.-31A>G"	"r.(=)"	"p.(=)"	"1"
"0000708478"	"00008648"	"10"	"161"	"67"	"161"	"67"	"c.161+67T>C"	"r.(=)"	"p.(=)"	"2i"
"0000708479"	"00008648"	"10"	"319"	"0"	"319"	"0"	"c.319C>A"	"r.(?)"	"p.(Leu107Ile)"	"4"
"0000708480"	"00008648"	"10"	"546"	"0"	"546"	"0"	"c.546G>A"	"r.(=)"	"p.(=)"	"5"
"0000713513"	"00008648"	"90"	"906"	"0"	"906"	"0"	"c.906C>A"	"r.(?)"	"p.(Tyr302*)"	""
"0000714074"	"00008648"	"70"	"605"	"0"	"605"	"0"	"c.605G>A"	"r.(?)"	"p.(Gly202Glu)"	""
"0000716664"	"00008648"	"30"	"570"	"0"	"570"	"0"	"c.570C>T"	"r.(?)"	"p.(Ser190=)"	""
"0000731047"	"00008648"	"70"	"896"	"0"	"896"	"0"	"c.896C>A"	"r.(?)"	"p.(Ala299Glu)"	""
"0000731048"	"00008648"	"70"	"720"	"2"	"720"	"2"	"c.720+2T>C"	"r.spl"	"p.?"	""
"0000760146"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000787760"	"00008648"	"90"	"840"	"0"	"843"	"0"	"c.840_843dup"	"r.(?)"	"p.(His282SerfsTer11)"	""
"0000787761"	"00008648"	"90"	"840"	"0"	"843"	"0"	"c.840_843dup"	"r.(?)"	"p.(His282SerfsTer11)"	""
"0000796130"	"00008648"	"90"	"843"	"0"	"844"	"0"	"c.843_844insAGTC"	"r.(?)"	"p.(His282Serfs*11)"	"7"
"0000796131"	"00008648"	"90"	"843"	"0"	"844"	"0"	"c.843_844insAGTC"	"r.(?)"	"p.(His282Serfs*11)"	"7"
"0000796132"	"00008648"	"90"	"843"	"0"	"844"	"0"	"c.843_844insAGTC"	"r.(?)"	"p.(His282Serfs*11)"	"7"
"0000796133"	"00008648"	"90"	"843"	"0"	"844"	"0"	"c.843_844insAGTC"	"r.(?)"	"p.(His282Serfs*11)"	"7"
"0000811415"	"00008648"	"70"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	""
"0000811502"	"00008648"	"70"	"730"	"0"	"743"	"0"	"c.730_743del"	"r.(?)"	"p.(His244SerfsTer7)"	""
"0000811532"	"00008648"	"70"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161Ter)"	""
"0000812384"	"00008648"	"70"	"811"	"0"	"813"	"0"	"c.811_813del"	"r.(?)"	"p.(Lys271del)"	"7"
"0000813897"	"00008648"	"70"	"605"	"0"	"605"	"0"	"c.605G>A"	"r.(?)"	"p.(Gly202Glu)"	""
"0000815308"	"00008648"	"50"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Met)"	""
"0000815310"	"00008648"	"50"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Met)"	""
"0000815313"	"00008648"	"50"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Met)"	""
"0000815478"	"00008648"	"50"	"928"	"0"	"928"	"0"	"c.928C>T"	"r.(?)"	"p.(Leu310Phe)"	""
"0000819535"	"00008648"	"70"	"620"	"0"	"620"	"0"	"c.620A>T"	"r.(?)"	"p.(Glu207Val)"	""
"0000819536"	"00008648"	"70"	"620"	"0"	"620"	"0"	"c.620A>T"	"r.(?)"	"p.(Glu207Val)"	""
"0000820465"	"00008648"	"70"	"591"	"-2"	"591"	"-2"	"c.591-2A>C"	"r.spl"	"p.(?)"	""
"0000820664"	"00008648"	"70"	"886"	"0"	"886"	"0"	"c.886T>C"	"r.(?)"	"p.(Tyr296His)"	""
"0000820665"	"00008648"	"70"	"886"	"0"	"886"	"0"	"c.886T>C"	"r.(?)"	"p.(Tyr296His)"	""
"0000821256"	"00008648"	"70"	"906"	"0"	"906"	"0"	"c.906C>A"	"r.(?)"	"p.(Tyr302*)"	""
"0000823700"	"00008648"	"70"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Val124Met)"	""
"0000823744"	"00008648"	"70"	"619"	"0"	"619"	"0"	"c.619G>A"	"r.(?)"	"p.(Glu207Lys)"	""
"0000823745"	"00008648"	"70"	"124"	"0"	"124"	"0"	"c.124G>C"	"r.(?)"	"p.(Gly42Arg)"	""
"0000826482"	"00008648"	"50"	"832"	"0"	"832"	"0"	"c.832dup"	"r.(?)"	"p.(Ile278Asnfs*14)"	"7"
"0000826483"	"00008648"	"50"	"832"	"0"	"832"	"0"	"c.832dup"	"r.(?)"	"p.(Ile278Asnfs*14)"	"7"
"0000826484"	"00008648"	"50"	"832"	"0"	"832"	"0"	"c.832dup"	"r.(?)"	"p.(Ile278Asnfs*14)"	"7"
"0000826485"	"00008648"	"50"	"832"	"0"	"832"	"0"	"c.832dup"	"r.(?)"	"p.(Ile278Asnfs*14)"	"7"
"0000826486"	"00008648"	"90"	"619"	"0"	"619"	"0"	"c.619G>A"	"r.(?)"	"p.(Glu207Lys)"	"6"
"0000826487"	"00008648"	"90"	"619"	"0"	"619"	"0"	"c.619G>A"	"r.(?)"	"p.(Glu207Lys)"	"6"
"0000848224"	"00008648"	"50"	"545"	"0"	"545"	"0"	"c.545C>T"	"r.(?)"	"p.(Thr182Met)"	""
"0000876278"	"00008648"	"70"	"503"	"0"	"503"	"0"	"c.503dup"	"r.(?)"	"p.(Ser170Ter)"	"5"
"0000876279"	"00008648"	"70"	"503"	"0"	"503"	"0"	"c.503dup"	"r.(?)"	"p.(Ser170Ter)"	"5"
"0000876280"	"00008648"	"70"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Gln79Ter)"	"3"
"0000876281"	"00008648"	"70"	"285"	"0"	"291"	"0"	"c.285_291delinsCTGTAT"	"r.(?)"	"p.(Ala96CysfsTer61)"	"3"
"0000876282"	"00008648"	"70"	"802"	"0"	"803"	"0"	"c.802_803insTCAA"	"r.(?)"	"p.(Lys270GlnfsTer7)"	"7"
"0000876283"	"00008648"	"70"	"303"	"365"	"461"	"974"	"c.303+365_461+974del"	"r.spl"	"p.?"	"4"
"0000876284"	"00008648"	"70"	"303"	"365"	"461"	"974"	"c.303+365_461+974del"	"r.spl"	"p.?"	"4"
"0000876285"	"00008648"	"70"	"955"	"0"	"955"	"0"	"c.955delA"	"r.(?)"	"p.(Ile319SerfsTer5)"	"8"
"0000876286"	"00008648"	"70"	"955"	"0"	"955"	"0"	"c.955delA"	"r.(?)"	"p.(Ile319SerfsTer5)"	"8"
"0000876287"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000876288"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000876289"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000876290"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000876291"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000876292"	"00008648"	"70"	"842"	"0"	"843"	"0"	"c.842_843insTCAG"	"r.(?)"	"p.(His282Glnfs*11)"	"7"
"0000876293"	"00008648"	"30"	"208"	"0"	"210"	"0"	"c.208_210del"	"r.(?)"	"p.(Lys70del)"	"3"
"0000876557"	"00008648"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000876558"	"00008648"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000876571"	"00008648"	"70"	"461"	"24"	"461"	"24"	"c.461+24G>A"	"r.spl"	"p.?"	""
"0000876572"	"00008648"	"70"	"285"	"0"	"291"	"0"	"c.285_291delinsCTGTAT"	"r.(?)"	"p.(Ala96Cysfs*61)"	""
"0000876575"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876576"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876577"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876578"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876579"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876580"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876581"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876582"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876583"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876584"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876585"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876586"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876587"	"00008648"	"70"	"730"	"0"	"743"	"0"	"c.730_743del"	"r.(?)"	"p.(His244Serfs*7)"	"7"
"0000876588"	"00008648"	"50"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Asp315Asn)"	""
"0000876589"	"00008648"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242Cys)"	""
"0000876590"	"00008648"	"50"	"623"	"0"	"623"	"0"	"c.623G>C"	"r.(?)"	"p.(Arg208Thr)"	""
"0000876591"	"00008648"	"90"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	""
"0000876592"	"00008648"	"70"	"811"	"0"	"813"	"0"	"c.811_813delAAG"	"r.(?)"	"p.(Lys271del)"	""
"0000876593"	"00008648"	"70"	"107"	"0"	"107"	"0"	"c.107T>G"	"r.(?)"	"p.(Leu36Arg)"	""
"0000876594"	"00008648"	"90"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105*)"	""
"0000876595"	"00008648"	"50"	"593"	"0"	"593"	"0"	"c.593T>A"	"r.(?)"	"p.(Met198Lys)"	""
"0000876596"	"00008648"	"90"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	""
"0000876597"	"00008648"	"90"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	""
"0000876598"	"00008648"	"90"	""	"0"	""	"0"	"c.(303+365)_(461+974)del"	"r.(?)"	"p.(Ala101fs*12)"	""
"0000876599"	"00008648"	"70"	"139"	"0"	"139"	"0"	"c.139A>G"	"r.(?)"	"p.(Ser47Gly)"	""
"0000876600"	"00008648"	"90"	"591"	"-2"	"591"	"-2"	"c.591-2A>C"	"r.spl"	"p.?"	""
"0000876601"	"00008648"	"70"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313*)"	""
"0000876602"	"00008648"	"50"	"620"	"0"	"620"	"0"	"c.620A>T"	"r.(?)"	"p.(Glu207Val)"	""
"0000876603"	"00008648"	"90"	"720"	"2"	"720"	"2"	"c.720+2T>C"	"r.spl"	"p.?"	""
"0000876604"	"00008648"	"70"	"811"	"0"	"813"	"0"	"c.811_813delAAG"	"r.(?)"	"p.(Lys271del)"	""
"0000876605"	"00008648"	"90"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	""
"0000876606"	"00008648"	"90"	""	"0"	""	"0"	"c.(303+365)_(461+974)dup"	"r.(?)"	"p.?"	""
"0000876607"	"00008648"	"50"	"886"	"0"	"886"	"0"	"c.886T>C"	"r.(?)"	"p.(Tyr296His)"	""
"0000986426"	"00008648"	"70"	"815"	"0"	"815"	"0"	"c.815A>T"	"r.(?)"	"p.(Asp272Val)"	"7"
"0001031039"	"00008648"	"30"	"147"	"0"	"147"	"0"	"c.147C>T"	"r.(?)"	"p.(Ile49=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 101
"{{screeningid}}"	"{{variantid}}"
"0000300752"	"0000663593"
"0000309808"	"0000684681"
"0000309808"	"0000684711"
"0000321248"	"0000704058"
"0000325439"	"0000708444"
"0000325467"	"0000708474"
"0000325468"	"0000708475"
"0000325469"	"0000708476"
"0000325470"	"0000708477"
"0000325471"	"0000708478"
"0000325472"	"0000708479"
"0000325473"	"0000708480"
"0000329390"	"0000713513"
"0000329717"	"0000714074"
"0000333451"	"0000731047"
"0000333451"	"0000731048"
"0000360254"	"0000760146"
"0000376182"	"0000787760"
"0000376183"	"0000787761"
"0000382353"	"0000796130"
"0000382354"	"0000796131"
"0000382355"	"0000796132"
"0000382356"	"0000796133"
"0000384654"	"0000811415"
"0000384734"	"0000811502"
"0000384734"	"0000811532"
"0000385363"	"0000812384"
"0000386400"	"0000813897"
"0000387424"	"0000815308"
"0000387426"	"0000815310"
"0000387429"	"0000815313"
"0000387447"	"0000815478"
"0000390190"	"0000819535"
"0000390190"	"0000820664"
"0000390191"	"0000819536"
"0000390191"	"0000820665"
"0000391120"	"0000820465"
"0000391507"	"0000821256"
"0000393051"	"0000823700"
"0000393123"	"0000823744"
"0000393123"	"0000823745"
"0000395230"	"0000826482"
"0000395230"	"0000826483"
"0000395231"	"0000826484"
"0000395231"	"0000826485"
"0000395232"	"0000826486"
"0000395232"	"0000826487"
"0000416831"	"0000876278"
"0000416831"	"0000876285"
"0000416832"	"0000876279"
"0000416832"	"0000876286"
"0000416833"	"0000876280"
"0000416834"	"0000876281"
"0000416835"	"0000876282"
"0000416836"	"0000876283"
"0000416837"	"0000876284"
"0000416838"	"0000876287"
"0000416839"	"0000876288"
"0000416840"	"0000876289"
"0000416841"	"0000876290"
"0000416842"	"0000876291"
"0000416843"	"0000876292"
"0000416844"	"0000876293"
"0000417056"	"0000876557"
"0000417057"	"0000876558"
"0000417062"	"0000876571"
"0000417062"	"0000876572"
"0000417064"	"0000876575"
"0000417065"	"0000876576"
"0000417066"	"0000876577"
"0000417067"	"0000876578"
"0000417068"	"0000876579"
"0000417069"	"0000876580"
"0000417070"	"0000876581"
"0000417071"	"0000876582"
"0000417072"	"0000876583"
"0000417073"	"0000876584"
"0000417074"	"0000876585"
"0000417075"	"0000876586"
"0000417076"	"0000876587"
"0000417077"	"0000876588"
"0000417078"	"0000876589"
"0000417079"	"0000876590"
"0000417079"	"0000876603"
"0000417080"	"0000876591"
"0000417081"	"0000876592"
"0000417082"	"0000876593"
"0000417082"	"0000876604"
"0000417083"	"0000876594"
"0000417084"	"0000876595"
"0000417085"	"0000876596"
"0000417086"	"0000876597"
"0000417087"	"0000876598"
"0000417087"	"0000876605"
"0000417088"	"0000876599"
"0000417089"	"0000876600"
"0000417090"	"0000876601"
"0000417090"	"0000876606"
"0000417091"	"0000876602"
"0000417091"	"0000876607"
"0000452443"	"0000986426"