### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MORC2)
# 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}}"
"MORC2"	"MORC family CW-type zinc finger 2"	"22"	"q12.2"	"unknown"	"NC_000022.10"	"NC_000022.10"	""	"https://www.LOVD.nl/MORC2"	""	"1"	"23573"	"22880"	"616661"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2026-09-02 17:38:43"	"00006"	"2026-09-02 17:51:47"


## 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}}"
"00025539"	"MORC2"	"transcript variant 1"	"005"	"NM_001303256.2"	""	"NP_001290185.1"	""	""	""	"-398"	"4772"	"3099"	"31364273"	"31321117"	"00001"	"2020-07-24 15:06:21"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00108"	"DYT"	"dystonia (DYT)"	""	""	""	""	""	"00054"	"2013-01-24 21:46:00"	"00006"	"2018-04-03 21:21:00"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00199"	"CMT2"	"Charcot-Marie-Tooth disease, type 2 (CMT-2)"	""	""	""	""	""	"00006"	"2013-09-13 14:35:15"	"00006"	"2021-12-11 13:56:28"
"05113"	"CMT"	"Charcot-Marie-Tooth disease (CMT)"	""	""	""	""	""	"00006"	"2016-01-11 01:40:57"	""	""
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05791"	"CMT2Z"	"Charcot-Marie-Tooth disease, type 2Z (CMT2Z)"	"AD"	"616688"	""	""	""	"00006"	"2020-07-23 15:02:57"	""	""
"07047"	"DIGFAN"	"developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy"	"AD"	"619090"	""	""	""	"00006"	"2023-12-04 21:35:07"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"MORC2"	"00199"
"MORC2"	"05113"
"MORC2"	"05791"
"MORC2"	"07047"


## Individuals ## Do not remove or alter this header ##
## Count = 77
"{{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}}"
"00295653"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00306917"	""	""	""	"7"	""	"00006"	"{PMID:Sevilla 2016:26497905}"	"4-generation family, 7 affected (3F, 4M)"	"F;M"	""	"Spain"	""	"0"	""	""	""	"FamCMT237"
"00306918"	""	""	""	"1"	""	"00006"	"{PMID:Sevilla 2016:26497905}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	"no"	"Spain"	""	"0"	""	""	""	"FamCMT197"
"00306919"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"Pat1"
"00306920"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"Pat2"
"00306921"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"Pat3"
"00306922"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"Pat4"
"00306923"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"Pat5"
"00306924"	""	""	""	"2"	""	"00006"	"{PMID:Ando 2017:28771897}"	"family"	"M"	""	"Japan"	""	"0"	""	""	""	"Pat6"
"00306925"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"Pat7"
"00306926"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"Pat8"
"00306927"	""	""	""	"2"	""	"00006"	"{PMID:Ando 2017:28771897}"	"family"	"M"	""	"Japan"	""	"0"	""	""	""	"Pat9"
"00306928"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}, {PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"Japan"	""	"0"	""	""	""	"Fam3Pat10"
"00306929"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Japan"	""	"0"	""	""	""	"Fam2Pat11"
"00306930"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Japan"	""	"0"	""	""	""	"Fam3Pat12"
"00306931"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Japan"	""	"0"	""	""	""	"Fam4Pat13"
"00306932"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00306933"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00306934"	""	""	""	"1"	""	"00006"	"{PMID:Ando 2017:28771897}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00306935"	""	""	""	"1"	""	"00006"	"{PMID:Hyun 2016:27105897}, {PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Korea"	""	"0"	""	""	""	"FC171"
"00306936"	""	""	""	"1"	""	"00006"	"{PMID:Hyun 2016:27105897}, {PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Korea"	""	"0"	""	""	""	"FC288"
"00306937"	""	""	""	"1"	""	"00006"	"{PMID:Hyun 2016:27105897}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Korea"	""	"0"	""	""	""	"FC456"
"00306938"	""	""	""	"1"	""	"00006"	"{PMID:Hyun 2016:27105897}, {PMID:Sacoto 2020:32693025}"	"4-generation family, 1 affected, unaffected parents"	"M"	""	"Korea"	""	"0"	""	""	""	"FC664"
"00306939"	""	""	""	"1"	""	"00006"	"{PMID:Sevilla 2016:26497905}, {PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Spain"	""	"0"	""	""	""	"FamCMT438"
"00306940"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00306941"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00306942"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00306943"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00306944"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat5"
"00306945"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat6"
"00306946"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat7"
"00306947"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00306948"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat9"
"00306949"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat10"
"00306950"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat11"
"00306951"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat12"
"00306952"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat13"
"00306953"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat14"
"00306954"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat15"
"00306955"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat16"
"00306956"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat17"
"00306957"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat18"
"00306958"	""	""	""	"2"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"family"	"F"	""	""	""	"0"	""	""	""	"Pat19"
"00306959"	""	""	""	"1"	""	"00006"	"{PMID:Sacoto 2020:32693025}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat20"
"00306960"	""	""	""	"20"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"5-generation family, 20 affected (12F, 8M), unaffected non-carrier parents"	"F;M"	""	"Australia"	""	"0"	""	""	""	"FamCMT105"
"00306961"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"4-generation family, 1 affected, unaffected non-carrier parents"	"F"	"yes"	"Australia"	""	"0"	""	""	""	"FamCMT895"
"00306962"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"4-generation family, 1 affected, unaffected parents"	"M"	""	"United States"	""	"0"	""	""	""	"FamWUNM0263"
"00306963"	""	""	""	"2"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"4-generation family, affected mother/son"	"F;M"	""	"United States"	""	"0"	""	""	""	"FamWUNM0058"
"00306965"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"3-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"FamWUNM0251"
"00306966"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"family"	""	""	""	""	"0"	""	""	""	"CMT102"
"00306967"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"family"	""	""	""	""	"0"	""	""	""	"CMT131"
"00306968"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"family"	""	""	""	""	"0"	""	""	""	"CMT739"
"00306969"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"family"	""	""	""	""	"0"	""	""	""	"CMT775"
"00306970"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"family"	""	""	""	""	"0"	""	""	""	"CMT791"
"00306971"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"family"	""	""	""	""	"0"	""	""	""	"Austrian-1"
"00306972"	""	""	""	"1"	""	"00006"	"{PMID:Albulym 2016:26659848}"	"sporadic patient"	""	""	"Austria"	""	"0"	""	""	""	"?"
"00402928"	""	""	""	"2"	""	"04268"	""	""	"-"	"no"	"France"	""	"0"	""	""	""	"Fam1"
"00402929"	""	""	""	"1"	""	"04268"	""	""	"F"	"no"	"France"	""	"0"	""	""	""	"Fam2"
"00455678"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00471340"	""	""	""	"1"	""	"00006"	"{PMID:Zech 2020:33098801}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"CB-DYS-130"
"00473950"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"F"	"no"	"Iran"	""	"0"	""	""	""	"Fam9908056Pat1480"
"00484318"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"(Russia)"	""	"0"	""	""	""	"PatD1.1"
"00484319"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"(Russia)"	""	"0"	""	""	""	"PatD2.1"
"00484320"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatD3.1"
"00484321"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"(Russia)"	""	"0"	""	""	""	"PatD4.1"
"00484322"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatD5.1"
"00484323"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"(Russia)"	""	"0"	""	""	""	"PatD6.1"
"00484324"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatD7.1"
"00484325"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatD8.1"
"00484326"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatD9.1"
"00484327"	""	""	""	"3"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, mildly affected mother, affected son/daugther"	"F"	""	"(Russia)"	""	"0"	""	""	""	"FamD10Pat3"
"00484328"	""	""	"00484327"	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"son"	"M"	""	"(Russia)"	""	"0"	""	""	""	"FamD10Pat1"
"00484329"	""	""	"00484327"	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"daughter"	"F"	""	"(Russia)"	""	"0"	""	""	""	"FamD10Pat2"
"00484330"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatD11.1"
"00484331"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"(Russia)"	""	"0"	""	""	""	"PatCMT1.1"
"00484332"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatCMT2.1"
"00484333"	""	""	""	"1"	""	"00006"	"{PMID:Murtazina 2026:42665440}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"(Russia)"	""	"0"	""	""	""	"PatCMT3.1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 77
"{{individualid}}"	"{{diseaseid}}"
"00295653"	"00198"
"00306917"	"05113"
"00306918"	"05113"
"00306919"	"05113"
"00306920"	"05113"
"00306921"	"05113"
"00306922"	"05113"
"00306923"	"05113"
"00306924"	"05113"
"00306925"	"05113"
"00306926"	"05113"
"00306927"	"05113"
"00306928"	"05113"
"00306929"	"05113"
"00306930"	"05113"
"00306931"	"05113"
"00306932"	"05113"
"00306933"	"05113"
"00306934"	"05113"
"00306935"	"05113"
"00306936"	"05113"
"00306937"	"05113"
"00306938"	"05113"
"00306939"	"05113"
"00306940"	"05113"
"00306941"	"05113"
"00306942"	"05113"
"00306943"	"05113"
"00306944"	"05113"
"00306945"	"05113"
"00306946"	"05113"
"00306947"	"05113"
"00306948"	"05113"
"00306949"	"05113"
"00306950"	"05113"
"00306951"	"05113"
"00306952"	"05113"
"00306953"	"05113"
"00306954"	"05113"
"00306955"	"05113"
"00306956"	"05113"
"00306957"	"05113"
"00306958"	"05113"
"00306959"	"05113"
"00306960"	"05113"
"00306961"	"05113"
"00306962"	"05113"
"00306963"	"05113"
"00306965"	"05113"
"00306966"	"05113"
"00306967"	"05113"
"00306968"	"05113"
"00306969"	"05113"
"00306970"	"05113"
"00306971"	"05113"
"00306972"	"05113"
"00402928"	"05791"
"00402929"	"05791"
"00455678"	"05162"
"00471340"	"00108"
"00473950"	"05113"
"00484318"	"00198"
"00484319"	"00198"
"00484320"	"00198"
"00484321"	"00198"
"00484322"	"00198"
"00484323"	"00198"
"00484324"	"00198"
"00484325"	"00198"
"00484326"	"00198"
"00484327"	"00198"
"00484328"	"00198"
"00484329"	"00198"
"00484330"	"00198"
"00484331"	"00198"
"00484332"	"00198"
"00484333"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 00199, 05113, 05162, 05791, 07047
## Count = 73
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000223217"	"00198"	"00295653"	"01164"	"Unknown"	""	"Abnormality of cardiovascular system physiology (HP:0011025); Abnormality of muscle physiology (HP:0011804); Progressive muscle weakness (HP:0003323); Abnormality of the endocrine system (HP:0000818); Diabetes mellitus (HP:0000819); Hypertension (HP:0000822)"	""	""	""	""	""	""	""	""	""	""
"0000232740"	"05113"	"00306917"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., first symptoms childhood/early adulthood, cramps lower limbs, distal lower limb weakness, sensory loss during initial examination, hand weakness appeared after distal lower limbs paresis"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232741"	"05113"	"00306918"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., delayed motor milestones"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232742"	"05113"	"00306919"	"00006"	"Isolated (sporadic)"	"47y"	"see paper; ..., drop foot; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor tongue tremor"	"30y"	""	"drop foot"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232743"	"05113"	"00306920"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..., drop foot; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; decreased deep tendon reflex; intellectual disability; atopic dermatitis"	"6y"	""	"drop foot"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232744"	"05113"	"00306921"	"00006"	"Isolated (sporadic)"	"39y"	"see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment"	"6y"	""	"poor motor performance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232745"	"05113"	"00306922"	"00006"	"Isolated (sporadic)"	"27y"	"see paper; ..., fatigue; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor leukoaraiosis"	"12y"	""	"fatigue"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232746"	"05113"	"00306923"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment"	"8y"	""	"gait disturbance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232747"	"05113"	"00306924"	"00006"	"Familial, autosomal dominant"	"14y"	"see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor"	"9y"	""	"gait disturbance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232748"	"05113"	"00306925"	"00006"	"Isolated (sporadic)"	"33y"	"see paper; ..., difficulty in run; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no cognitive impairment; tremor tongue atrophy"	"28y"	""	"difficulty in run"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232749"	"05113"	"00306926"	"00006"	"Isolated (sporadic)"	"51y"	"see paper; ..., weakness; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; intellectual disability (IQ47)"	"6y"	""	"weakness"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232750"	"05113"	"00306927"	"00006"	"Familial, autosomal dominant"	"44y"	"see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment"	"6y"	""	"poor motor performance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232751"	"05113"	"00306928"	"00006"	"Isolated (sporadic)"	"29y"	"see paper; ..., difficulty in running; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; atopic dermatitis"	"6y"	""	"difficulty in running"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232752"	"05113"	"00306929"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment"	"11y"	""	"gait disturbance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232753"	"05113"	"00306930"	"00006"	"Isolated (sporadic)"	"36y"	"see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; intellectual disability (IQ65); leukoaraiosis brain atrophy spinal cord atrophy"	"5y"	""	"gait disturbance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232754"	"05113"	"00306931"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; decreased deep tendon reflex; intellectual disability (IQ76)"	"1y"	""	"gait disturbance"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232755"	"05113"	"00306935"	"00006"	"Isolated (sporadic)"	"13y"	"see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, scoliosis, claw hand"	"00y09m"	""	"general hypotonia"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232756"	"05113"	"00306936"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, cataract, scoliosis, dysmorphic face, claw hand"	"00y06m"	""	"general hypotonia"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232757"	"05113"	"00306937"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, scoliosis, visual evoked potential abnormal, cramps, claw hand, standing on heels"	"11y"	""	"distal muscle weakness"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232758"	"05113"	"00306938"	"00006"	"Isolated (sporadic)"	"30y"	"see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, cramps, claw hand, not standing on heels"	"14y"	""	"distal muscle weakness"	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232759"	"05113"	"00306939"	"00006"	"Isolated (sporadic)"	"01y07m"	"OFC <third percentile; motor delay; no speech delay; no intellectual disability; hypotonia, weakness, areflexia; sensory motor neuropathy; MRI brain “mild dismaturative features”"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232760"	"05113"	"00306940"	"00006"	"Isolated (sporadic)"	"4y2m"	"height SD -3.41, weight SD -2.95, OFC SD -3.72; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; precocious puberty; high arches, hyperreflexia, spasticity, ataxic and jerking movements of arms and legs, thoracic kyphosis; only walks with a walker; normal electromyogram, normal nerve conduction study; MRI brain abnormal T2 hyperintensity in right cerebral peduncle, cortical atrophy with ventriculomegaly, abnormal signal in right putamen and diffuse, ill-defined white matter hyperintensity"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232761"	"05113"	"00306941"	"00006"	"Isolated (sporadic)"	"17y"	"height SD -3.66, weight SD -5.6, OFC SD -2.05; motor delay; speech delay; mild intellectual disability; no facial dysmorphism; no hearing loss; delayed puberty, growth hormone deficiency, hypothyroidism; high arches, toe walking, spasticity, hyperreflexia; MRI brain 14y-normal"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232762"	"05113"	"00306942"	"00006"	"Isolated (sporadic)"	"04y10m"	"height SD -3.13, weight SD -2.36, OFC SD -5.03; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; no hearing loss; vitamin D deficiency; high arches, hyporeflexia in lower extremities; MRI brain severe delay in myelination with T2 hyperintensity in the substantia nigra, mild cerebral atrophy; severe gastresophageal reflux, hyperopia, ptosis, capillary hemangioma"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232763"	"05113"	"00306943"	"00006"	"Isolated (sporadic)"	"26y07m"	"height SD -3.28, weight SD -2.91, OFC SD -0.94; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, severe, hearing aid in one ear and a cochlear implant in the other; precocious puberty, mildly increased prolactin; hyporeflexia, reduced range of motion in large joints, knee contractures, crouched and stiff gait; normal electromyogram, normal nerve conduction study; MRI brain 12y-normal; salt and pepper maculopathy, strabismus, oromotor dyspraxia, constipation, autism"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232764"	"05113"	"00306944"	"00006"	"Unknown"	"05y06m"	"height SD -2.89, weight SD 0.4, OFC SD -4.02; motor delay; speech delay; severe intellectual disability; no facial dysmorphism; mixed, moderate-profound, hearing aids; no endocrine anomalies; hypotonia, weakness, hyperreflexia; MRI brain ventriculomegaly, supratentorial and infratentorial volume loss with diffusely abnormal white matter and prominent cavitary encephalomalacia in the putamina and caudate heads; retinal dystrophy on ERG, bilateral ptosis, esotropia, epilepsy, gastresophageal reflux, feeding difficulties, laryngomalacia, sialorrhea, history of acute respiratory failure with illness, neutropenia, lactic acidosis"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232765"	"05113"	"00306945"	"00006"	"Isolated (sporadic)"	"01y03m"	"height SD -1.58, weight SD -0.93, OFC SD -1.35; motor delay; speech delay; facial dysmorphism; no hearing loss; no endocrine anomalies; axial hypotonia, appendicular hypertonia (more pronounced in the lower extremities), hyperreflexia and extensor plantar response; MRI brain 10m-normal; non-specific peripheral retinal deposits"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232766"	"05113"	"00306946"	"00006"	"Isolated (sporadic)"	"4y10m"	"height SD -2.32, weight SD -2.58, OFC SD -0.4; motor delay; speech delay; severe intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; hypotonia, decreased muscle bulk, proximal weakness, areflexia, non-ambulatory; sensory motor axonal neuropathy; MRI brain T2 hyperintensities of the central tegmental tract and superior cerebral peduncles, globus palladi, subthalamic nucleus and substantia nigra; unprovoked episodic deterioration in neurologic symptoms, followed by gradual recovery, frequent respiratory infections"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232767"	"05113"	"00306947"	"00006"	"Isolated (sporadic)"	"5y"	"height SD -3.34, weight SD -4.08, OFC SD -3.46; motor delay; speech delay; mild/moderate intellectual disability; no facial dysmorphism; no hearing loss; no endocrine anomalies; weakness, decreased muscle bulk, mildly elevated creatine kinase, areflexia, wide based and waddling gait, uses a walker and braces for ambulation, mild kyphosis; axonal motor neuropathy; MRI brain 15m-normal; proximally placed thumbs, hirsutism"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232768"	"05113"	"00306948"	"00006"	"Isolated (sporadic)"	"23y"	"height SD -6.61, weight SD -3.9, OFC SD -9.7; motor delay; speech delay; severe intellectual disability; facial dysmorphism; hearing loss, type unknown; hammertoes, spasticity, non-ambulatory; decreased vision, short and broad toes"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232769"	"05113"	"00306949"	"00006"	"Isolated (sporadic)"	"06y"	"height SD -2.12, weight SD -0.67, OFC SD -2.24; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; mild diffuse hypotonia, hyporeflexia, possible mild muscle weakness, intention tremor of upper extremities, intermittent exotropia, slow gait with trace circumduction at left hip; 4y-normal electromyogram, normal nerve conduction study; MRI brain lesions of the periaqueductal gray matter, thalami, substantia nigra, and geniculocalcarine tract at 17 months; periaqueductal gray matter lesions had resolved by age 4 years, whereas other lesions remained stable; pectus excavatum, fifth finger clinodactyly, broad great toes, cutis marmorata, 7y-subtle retinal pigmentary changes"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232770"	"05113"	"00306950"	"00006"	"Isolated (sporadic)"	"00y84m"	"height SD -3.69, weight SD -3.32, OFC SD -2.04; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, mild-to-moderate; no endocrine anomalies; hypotonia, weakness, areflexia, hammertoes, pes cavus, intoeing gait; sensory motor polyneuropathy; MRI brain hypomyelination"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232771"	"05113"	"00306951"	"00006"	"Isolated (sporadic)"	"15y"	"height SD -2.5, weight SD -2.82, OFC SD -2.12; motor delay; speech delay; mild intellectual disability (non-verbal); facial dysmorphism; sensorineural hearing loss, moderate, unilateral; precocious puberty; mild hypotonia, patellar hyporeflexia, severe scoliosis; mild axonal neuropathy; MRI brain 9y-normal, previous exams raised concern for possible mild periventricular gliosis; absence seizures, velopharyngeal insufficiency, eosinophilic esophagitis, chronic constipation, history of feeding difficulties"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232772"	"05113"	"00306952"	"00006"	"Unknown"	"34y"	"height SD -2.76, weight SD 0.1, OFC SD -2.64; no motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, unilateral hearing aid; hypothyroidism, premature thelarche, PCOS; weakness, hypotonia, normal reflexes, poor balance and coordination, lordosis; MRI brain cerebral and cerebellar volume loss, a couple of foci of T2 hyperintensity in cerebral white matter; narrow shoulders, brachydactyly, small hands, clinodactyly, myopia, possible macular degeneration, gastresophageal reflux, gallbladder disease, heterochromia"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000232773"	"05113"	"00306953"	"00006"	"Isolated (sporadic)"	"12y"	"height SD -3.3, weight SD -0.96, OFC SD -3.5; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; sensorineural hearing loss, mild-to-moderate, bilateral; no endocrine anomalies; hypotonia, hyperreflexia, mild hemiplegic gait, tremor, dystonia, scoliosis; MRI brain cortical dysplasia; fetal finger pads, bilateral sandal gap, clynodactyly of toes 3, 4, and 5"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232774"	"05113"	"00306954"	"00006"	"Isolated (sporadic)"	"9y"	"height SD -2.07, weight SD -0.82, OFC SD -3.27; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; sensorineural hearing loss, progressive, bilateral, has cochlear implants; precocious puberty; hypotonia, difficulty with tandem gait, trips when running, mild intention tremor; normal at age 9 years; MRI brain delayed myelination, mild cerebellar volume loss; linear hypopigmentation in extremities, progressive hyperopia, mild retinal changes with normal ERG"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232775"	"05113"	"00306955"	"00006"	"Unknown"	"15y"	"height SD -2.07, weight SD -1.23, OFC SD -2.05; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, moderate-to-severe, bilateral; no endocrine anomalies; severe spasticity (asymmetric), lower extremity hyperreflexia, unsteady, wide based gait, hammertoes and high arches not present on exam at age 12 years but significant at age 15 years; MRI brain cerebellar atrophy; resting tremor and dysmetria, history of seizures and staring spells with normal EEG, Wolff-Parkinson-White syndrome, vision impairment"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232776"	"05113"	"00306956"	"00006"	"Isolated (sporadic)"	"8y7m"	"height SD -2.1, weight SD 0.5, OFC SD -2.1; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, bilateral, mild; no endocrine anomalies; hypotonia, weakness, high arches, intoeing gait, unilateral tremor, dystonic posturing, spasticity; sensory polyneuropathy; MRI brain  MRI brain multiple foci stable chronic hemosiderin deposition within the supratentorial and infratentorial white matter; Tetralogy of Fallot"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232777"	"05113"	"00306957"	"00006"	"Isolated (sporadic)"	"49y"	"height SD -1.2, weight SD 2.36, OFC SD 2.02; motor delay; speech delay; no facial dysmorphism; hypothyroidism; progressive, asymmetric limb weakness (left > right), muscle atrophy, foot drop, areflexia, ataxia, uses walker or wheelchair for ambulation; sensory motor neuropathy; MRI brain generalized brain atrophy and scattered subcortical and deep white matter microangiopathic changes disproportionate to patient’s age; essential thrombocytosis, grooved tongue, mildly elevated creatine kinase (500–900 U/L)"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232778"	"05113"	"00306958"	"00006"	"Familial, autosomal dominant"	"5y7m"	"height SD -2.29, weight SD -2.35, OFC SD 0.09; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; growth hormone deficiency; hypotonia, weakness, hyporeflexia, ataxia, action tremor; MRI brain 3y-normal; duplicated collecting system"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232779"	"05113"	"00306959"	"00006"	"Unknown"	"29y"	"motor delay"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232780"	"05113"	"00306960"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., pyramidal signs"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232781"	"05113"	"00306961"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232782"	"05113"	"00306962"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232783"	"05113"	"00306963"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232784"	"05113"	"00306965"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000232785"	"05113"	"00306966"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000232786"	"05113"	"00306967"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000232787"	"05113"	"00306968"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000232788"	"05113"	"00306969"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000232789"	"05113"	"00306970"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000232790"	"05113"	"00306971"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000232791"	"05113"	"00306972"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000295676"	"05791"	"00402929"	"04268"	"Isolated (sporadic)"	"46y"	"late-onset SMA presentation"	"40y"	""	""	""	""	""	""	"CMT2Z"	"SMA"	""
"0000344211"	"05162"	"00455678"	"03544"	"Isolated (sporadic)"	""	"HP:0000252, HP:0000154, HP:0004322, HP:0000336, HP:0000347, HP:0000486, HP:0000490, HP:0000365, HP:0000369, HP:0002650, HP:0001762, HP:0001763, HP:0002313, HP:0030084, HP:0040276, HP:0001249, HP:0100790"	""	""	""	""	""	""	""	"DIGFAN"	"complex neurodevelopmental disorder"	""
"0000356177"	"00108"	"00471340"	"00006"	"Isolated (sporadic)"	""	"combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy"	""	""	""	""	""	""	""	""	"dystonia"	""
"0000358745"	"05113"	"00473950"	"00006"	"Familial, autosomal dominant"	"23y"	"onset 21y, Lower muscle weakness; Abnormal gait; Mild lordosis."	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000367096"	"00198"	"00484318"	"00006"	"Isolated (sporadic)"	"00y-0.5y"	"see paper; ..., disease duration at examination 2y; global development delay; height 94cm (SD +1.39), weight 16.5kg (SD +2.27), OFC 45.5cm (SD -1.62); ambulant with support; broad-based gait, mild ataxia; distal leg muscle weakness; no neck muscles weakness; no facial muscles weakness; valgus; no joints contractures; no dysarthria; reduced tendon reflexes; limited speech; intellectual disability; epicanthus, hypotelorism, convex nasal ridge; proximal placement of thumb; creatine kinase level 76 U/L; low peroneal and tibial CMAP amplitude; needle EMG neurogenic; 2y-MRI brain T2-hyperintensities at brain stem"	""	""	""	""	""	""	""	"DIGFAN"	"Leigh syndrome"	""
"0000367097"	"00198"	"00484319"	"00006"	"Isolated (sporadic)"	"0.5y-01y"	"see paper; ..., disease duration at examination 5y; motor delay; height 100cm (SD -3.00), weight 16kg (SD -1.85), OFC 47cm (SD -3.11); ambulant with support; broad-based gait, mild ataxia; no limb muscle weakness; no neck muscles weakness; no facial muscles weakness; no feet deformation; no joints contractures; no dysarthria; reduced tendon reflexes; limited speech; intellectual disability; no facial dysmorphism; increased muscle tone in lower limbs, lower limbs discrepancy (D>S, 1 cm);  creatine kinase level 128 U/L; 3y-MRI brain self-resolving T2-hyperintensities at cerebral peduncles"	""	""	""	""	""	""	""	"DIGFAN"	"neurodevelopmental disorder with myopathic features"	""
"0000367098"	"00198"	"00484320"	"00006"	"Isolated (sporadic)"	"0.5y-01y"	"see paper; ..., disease duration at examination 6.5y; motor delay; height 105cm (SD -3.13), weight 13.5kg (SD -3.68), OFC 48cm (SD -3.01); never ambulant; diffuse limb muscle weakness; neck muscles weakness; facial muscles weakness; valgus; joints contractures(hand joints); no dysarthria; reduced tendon reflexes; decreased sensitivity; normal speech; intellectual disability; hypomimia, low set ears; nasolalia;  creatine kinase level 153 U/L; needle EMG neurogenic; 1.5y-MRI brain periventriculr leukopathy"	""	""	""	""	""	""	""	"DIGFAN"	"spinal muscular atrophy"	""
"0000367099"	"00198"	"00484321"	"00006"	"Isolated (sporadic)"	"00y-0.5y"	"see paper; ..., disease duration at examination 4.5y; global development delay; height 91cm (SD -1.89), weight 12kg (SD -3.05), OFC 48cm (SD -1.66); never ambulant; diffuse limb muscle weakness; neck muscles weakness; facial muscles weakness; valgus; no joints contractures; n/a; reduced tendon reflexes; absent speech; intellectual disability; narrow forehead, low hair growth, hypertrichosis forehead, depressed bridge nose, upturned tip nose; short neck;  creatine kinase level 143 U/L; low tibial CMAP amplitude, SNAP absent; needle EMG neurogenic; 1y2m-MRI brain delayed myelination, periventricular leukopathy"	""	""	""	""	""	""	""	"DIGFAN"	"neurodevelopmental disorder, Charcot-Marie-Tooth disease"	""
"0000367100"	"00198"	"00484322"	"00006"	"Isolated (sporadic)"	"00y-0.5y"	"see paper; ..., disease duration at examination 5y; global development delay; height 104cm (SD -1.24), weight 17.5kg (SD -0.5), OFC 49cm (SD -1.8); ambulant with support; waddling gait, steppage; diffuse limb muscle weakness; neck muscles weakness; facial muscles weakness; equinovarus; joints contractures (ankle); dysarthria; reduced tendon reflexes; normal sensitivity; normal speech; intellectual disability; no facial dysmorphism; total alopecia, unilateral cryptorchidism, shawl scrotum;  creatine kinase level 202 U/L; low tibial CMAP amplitude, SNAP absent; needle EMG neurogenic; 5y-MRI brain periventricular leukopathy, cerebellar vermis hypoplasia"	""	""	""	""	""	""	""	"DIGFAN"	"spinal muscular atrophy"	""
"0000367101"	"00198"	"00484323"	"00006"	"Isolated (sporadic)"	"00y-0.5y"	"see paper; ..., disease duration at examination 2.7y; global development delay; height 92cm (SD -0.68), weight 10kg (SD -2.65), OFC 44cm (SD -2.88); ambulant with support; broad-based gait, ataxia; diffuse limb muscle weakness; neck muscles weakness; no facial muscles weakness; valgus; no joints contractures; dysarthria; reduced tendon reflexes; limited speech; intellectual disability; epicanthus, narrow mouth, microretrognathia; hearing loss, carious teeth, proximal placement of thumb, overlapping toes;  creatine kinase level 48 U/L; CMAP amplitude normal; needle EMG neurogenic; 1y8m-MRI brain reducing T2-hyperintensities at brain stem"	""	""	""	""	""	""	""	"DIGFAN"	"Leigh syndrome"	""
"0000367102"	"00198"	"00484324"	"00006"	"Isolated (sporadic)"	"00y-0.5y"	"see paper; ..., disease duration at examination 9y; global development delay; height 130cm (SD -0.39), weight 25kg (SD -0.86), OFC 50cm (SD -1.93); never ambulant; diffuse limb muscle weakness; neck muscles weakness; facial muscles weakness; equinovarus; joints contractures (ankle/knee/elbow/wrist); dysarthria; reduced tendon reflexes; normal sensitivity; limited speech; intellectual disability; narrow face, short philtrum, widely spaced teeth, low-set ears, pointed chin; respiratory disturbances, tracheostoma, generalized ichthyosis;  creatine kinase level 315 U/L; low tibial CMAP amplitude; needle EMG neurogenic; 1y10m-MRI brain mild cerebellar atrophy"	""	""	""	""	""	""	""	"DIGFAN"	"spinal muscular atrophy"	""
"0000367103"	"00198"	"00484325"	"00006"	"Isolated (sporadic)"	"00y-0.5y"	"see paper; ..., disease duration at examination 16y; global development delay; height 152cm (SD -2.44), weight 44kg (SD -1.91), OFC 51.5cm (SD -2.42); ambulant with tireness; unsteady gait, on toes; distal leg muscle weakness; no neck muscles weakness; no facial muscles weakness; equinovarus; joints contractures (ankle); no dysarthria; reduced tendon reflexes; normal speech; intellectual disability; no facial dysmorphism; hearing loss, precocious puberty, planned bilateral foot arthrodesis;  creatine kinase level 102 U/L; CMAP amplitude normal; needle EMG neurogenic; MRI brain mild FLAIR-hyperintensities left pallidum"	""	""	""	""	""	""	""	"DIGFAN"	"Charcot-Marie-Tooth disease"	""
"0000367104"	"00198"	"00484326"	"00006"	"Isolated (sporadic)"	"0.5y-01y"	"see paper; ..., disease duration at examination 11y; global development delay; height 169cm (SD +2.62), weight 46kg (SD +0.47), OFC 53cm (SD -0.53); ambulant with tireness; broad-based gait, ataxia; no limb muscle weakness; no neck muscles weakness; no facial muscles weakness; equinovarus; joints contractures (ankle); dysarthria; brisk tendon reflexes; normal sensitivity; normal speech; intellectual disability; narrow face; partially duplicated kidney, bilateral Babinsky sign, ankle clonus ;  creatine kinase level 80 U/L; low peroneal CMAP amplitude, SNAP amplitude normal; needle EMG neurogenic; 6y-MRI brain periventricular leukopathy, cerebellar vermis hypoplasia"	""	""	""	""	""	""	""	"DIGFAN"	"neurodevelopmental disorder"	""
"0000367105"	"00198"	"00484327"	"00006"	"Unknown"	">15y"	"see paper; ..., disease duration at examination 33y; no global development delay/no motor delay; height 150cm (SD -2.04),; ambulant; no limb muscle weakness; no neck muscles weakness; no facial muscles weakness; pes cavus; no joints contractures; no dysarthria; brisk tendon reflexes (lower>upper); normal sensitivity; normal speech; no intellectual disability; hearing loss; no facial dysmorphism"	""	""	""	""	""	""	""	"DIGFAN"	""	""
"0000367106"	"00198"	"00484328"	"00006"	"Familial, autosomal dominant"	"00y-0.5y"	"see paper; ..., disease duration at examination 21y; global development delay; height 155cm (SD -3.00), weight 44.7kg (SD -2.88), OFC 51cm (SD -2.76); ambulant; gait stepagge, limited rotation of right foot; mild hand muscle weakness; no neck muscles weakness; no facial muscles weakness; pes cavus (D>S); joints contractures (ankle, right 3rd/4th toes); no dysarthria; brisk tendon reflexes; normal sensitivity; normal speech; intellectual disability; hirsutism, triangular face, prominent chin, prominent nasal bridge, depressed nasal tip, flat philtrum; osteopenia, osteoporosis, scoliosis, multiple fractures of right leg, toes overlapping, lateral rotation of the 2nd toe, hypertrichoisis; 1y-MRI brain two lesions, one left basal ganglia, one top right lateral ventricle"	""	""	""	""	""	""	""	"DIGFAN"	"neurodevelopmental disorder"	""
"0000367107"	"00198"	"00484329"	"00006"	"Familial, autosomal dominant"	">15y"	"see paper; ..., no global development delay/no motor delay; height 150cm (SD -2.04), weight 54.7kg (SD -0.39), OFC 51cm (SD -3.12); ambulant; awkward gait; no limb muscle weakness; no neck muscles weakness; no facial muscles weakness; pes cavus; no joints contractures; no dysarthria; brisk tendon reflexes; normal sensitivity; normal speech; borderline intellectual disability; hirsutism, mild synophrys, prominent nasal bridge, mildly depressed broad nasal tip, short philtrum; hearing loss, lateral deviation of great toes bilaterally, mild scoliosis; 16y-MRI brain normal"	""	""	""	""	""	""	""	"DIGFAN"	"autism spectrum disorder"	""
"0000367108"	"00198"	"00484330"	"00006"	"Isolated (sporadic)"	">15y"	"see paper; ..., no global development delay/no motor delay; height 172cm (SD -0.64), weight 60kg (SD -1.08), ; ambulant; waddling gait, steppage (D>S); mild proximal limb muscle weakness,  distal (sever distal limb muscle weakness; no neck muscles weakness; no facial muscles weakness; pes cavus (D>S); joints contractures (right ankle); no dysarthria; reduced tendon reflexes; normal sensitivity; normal speech; borderline intellectual disability; no facial dysmorphism; hearing loss;  creatine kinase level 152 U/L; low peroneal CMAP amplitude, SNAP amplitude normal; needle EMG neurogenic; 34y-MRI brain mild FLAIR-hyperintensities in cerebral white matter"	""	""	""	""	""	""	""	"DIGFAN"	"distal spinal muscular atrophy"	""
"0000367109"	"00198"	"00484331"	"00006"	"Unknown"	">15y"	"see paper; ..., disease duration at examination 29y; no global development delay/no motor delay; height 167cm (SD +0.21), weight 52kg (SD -0.94), OFC 54cm (SD -0.64); ambulant; gait left-side steppage; distal limb muscle weakness; no neck muscles weakness; no facial muscles weakness; pes cavus; no joints contractures; no dysarthria; reduced tendon reflexes; decreased sensitivity; normal speech; no intellectual disability; no facial dysmorphism; no;  creatine kinase level 120 U/L; low CMAP and SNAP amplitude; needle EMG neurogenic"	""	""	""	""	""	""	""	"CMT2Z"	"Charcot-Marie-Tooth disease"	""
"0000367110"	"00198"	"00484332"	"00006"	"Unknown"	">15y"	"see paper; ..., disease duration at examination 17y; no global development delay/no motor delay; height normal, OFC normal; ambulant; gait steppage; distal limb muscle weakness; no facial muscles weakness; pes cavus; no joints contractures; no dysarthria; reduced tendon reflexes; normal sensitivity; normal speech; no intellectual disability; no facial dysmorphism; tongue hypotrophy, limb muscle and tongue fasciculations;  creatine kinase level 954 U/L; needle EMG neurogenic"	""	""	""	""	""	""	""	"CMT2Z"	"distal spinal muscular atrophy"	""
"0000367111"	"00198"	"00484333"	"00006"	"Unknown"	">15y"	"see paper; ..., disease duration at examination 18y; no global development delay/no motor delay; height normal, OFC normal; ambulant; steppage; distal limb muscle weakness; no facial muscles weakness; pes cavus; no joints contractures; no dysarthria; reduced tendon reflexes; normal sensitivity; normal speech; no intellectual disability; no facial dysmorphism; no;  creatine kinase level 199 U/L; low CMAP and SNAP amplitude; needle EMG neurogenic"	""	""	""	""	""	""	""	"CMT2Z"	"distal spinal muscular atrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 77
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000296825"	"00295653"	"1"	"01164"	"01164"	"2020-03-22 12:43:32"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000308054"	"00306917"	"1"	"00006"	"00006"	"2020-07-24 08:49:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308055"	"00306918"	"1"	"00006"	"00006"	"2020-07-24 08:54:46"	""	""	"SEQ"	"DNA"	""	""
"0000308056"	"00306919"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308057"	"00306920"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308058"	"00306921"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308059"	"00306922"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308060"	"00306923"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308061"	"00306924"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308062"	"00306925"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308063"	"00306926"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308064"	"00306927"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308065"	"00306928"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308066"	"00306929"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308067"	"00306930"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308068"	"00306931"	"1"	"00006"	"00006"	"2020-07-24 09:59:44"	""	""	"SEQ"	"DNA"	""	""
"0000308069"	"00306932"	"1"	"00006"	"00006"	"2020-07-24 10:05:10"	""	""	"SEQ"	"DNA"	""	""
"0000308070"	"00306933"	"1"	"00006"	"00006"	"2020-07-24 10:05:10"	""	""	"SEQ"	"DNA"	""	""
"0000308071"	"00306934"	"1"	"00006"	"00006"	"2020-07-24 10:05:10"	""	""	"SEQ"	"DNA"	""	""
"0000308072"	"00306935"	"1"	"00006"	"00006"	"2020-07-24 11:56:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308073"	"00306936"	"1"	"00006"	"00006"	"2020-07-24 11:56:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308074"	"00306937"	"1"	"00006"	"00006"	"2020-07-24 11:56:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308075"	"00306938"	"1"	"00006"	"00006"	"2020-07-24 11:56:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308076"	"00306939"	"1"	"00006"	"00006"	"2020-07-24 12:29:03"	""	""	"SEQ"	"DNA"	""	""
"0000308077"	"00306940"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308078"	"00306941"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308079"	"00306942"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308080"	"00306943"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308081"	"00306944"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308082"	"00306945"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308083"	"00306946"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308084"	"00306947"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308085"	"00306948"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308086"	"00306949"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308087"	"00306950"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308088"	"00306951"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308089"	"00306952"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308090"	"00306953"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308091"	"00306954"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308092"	"00306955"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308093"	"00306956"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308094"	"00306957"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308095"	"00306958"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308096"	"00306959"	"1"	"00006"	"00006"	"2020-07-24 12:53:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308097"	"00306960"	"1"	"00006"	"00006"	"2020-07-24 13:45:07"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308098"	"00306961"	"1"	"00006"	"00006"	"2020-07-24 13:52:33"	""	""	"SEQ"	"DNA"	""	""
"0000308099"	"00306962"	"1"	"00006"	"00006"	"2020-07-24 13:55:01"	""	""	"SEQ"	"DNA"	""	""
"0000308100"	"00306963"	"1"	"00006"	"00006"	"2020-07-24 13:57:12"	""	""	"SEQ"	"DNA"	""	""
"0000308102"	"00306965"	"1"	"00006"	"00006"	"2020-07-24 14:17:43"	""	""	"SEQ"	"DNA"	""	""
"0000308103"	"00306966"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000308104"	"00306967"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000308105"	"00306968"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000308106"	"00306969"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000308107"	"00306970"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000308108"	"00306971"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000308109"	"00306972"	"1"	"00006"	"00006"	"2020-07-24 14:28:51"	""	""	"SEQ"	"DNA"	""	""
"0000404169"	"00402928"	"1"	"04268"	"04268"	"2022-02-14 16:21:57"	""	""	"SEQ-NG"	"DNA"	""	""
"0000404170"	"00402929"	"1"	"04268"	"04268"	"2022-02-14 16:51:46"	""	""	"SEQ"	"DNA"	""	""
"0000457292"	"00455678"	"1"	"03544"	"03544"	"2024-10-15 08:14:12"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000473010"	"00471340"	"1"	"00006"	"00006"	"2025-12-19 18:53:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000475619"	"00473950"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000485968"	"00484318"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485969"	"00484319"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485970"	"00484320"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485971"	"00484321"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485972"	"00484322"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485973"	"00484323"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485974"	"00484324"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485975"	"00484325"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485976"	"00484326"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485977"	"00484327"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485978"	"00484328"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485979"	"00484329"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485980"	"00484330"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485981"	"00484331"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485982"	"00484332"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000485983"	"00484333"	"1"	"00006"	"00006"	"2026-09-02 17:51:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 57
"{{screeningid}}"	"{{geneid}}"
"0000308054"	"MORC2"
"0000308055"	"MORC2"
"0000308056"	"MORC2"
"0000308057"	"MORC2"
"0000308058"	"MORC2"
"0000308059"	"MORC2"
"0000308060"	"MORC2"
"0000308061"	"MORC2"
"0000308062"	"MORC2"
"0000308063"	"MORC2"
"0000308064"	"MORC2"
"0000308065"	"MORC2"
"0000308066"	"MORC2"
"0000308067"	"MORC2"
"0000308068"	"MORC2"
"0000308069"	"MORC2"
"0000308070"	"MORC2"
"0000308071"	"MORC2"
"0000308072"	"MORC2"
"0000308073"	"MORC2"
"0000308074"	"MORC2"
"0000308075"	"MORC2"
"0000308076"	"MORC2"
"0000308077"	"MORC2"
"0000308078"	"MORC2"
"0000308079"	"MORC2"
"0000308080"	"MORC2"
"0000308081"	"MORC2"
"0000308082"	"MORC2"
"0000308083"	"MORC2"
"0000308084"	"MORC2"
"0000308085"	"MORC2"
"0000308086"	"MORC2"
"0000308087"	"MORC2"
"0000308088"	"MORC2"
"0000308089"	"MORC2"
"0000308090"	"MORC2"
"0000308091"	"MORC2"
"0000308092"	"MORC2"
"0000308093"	"MORC2"
"0000308094"	"MORC2"
"0000308095"	"MORC2"
"0000308096"	"MORC2"
"0000308097"	"MORC2"
"0000308098"	"MORC2"
"0000308099"	"MORC2"
"0000308100"	"MORC2"
"0000308102"	"MORC2"
"0000308103"	"MORC2"
"0000308104"	"MORC2"
"0000308105"	"MORC2"
"0000308106"	"MORC2"
"0000308107"	"MORC2"
"0000308108"	"MORC2"
"0000308109"	"MORC2"
"0000404169"	"MORC2"
"0000404170"	"MORC2"


## 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 = 137
"{{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}}"
"0000283703"	"0"	"70"	"22"	"31337490"	"31337490"	"subst"	"0"	"02329"	"MORC2_000002"	"g.31337490G>A"	""	""	""	"MORC2(NM_014941.3):c.568C>T (p.R190W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30941503G>A"	""	"likely pathogenic"	""
"0000283704"	"0"	"70"	"22"	"31354679"	"31354679"	"subst"	"0"	"02329"	"MORC2_000004"	"g.31354679T>C"	""	""	""	"MORC2(NM_001303256.3):c.70A>G (p.T24A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30958693T>C"	""	"likely pathogenic"	""
"0000283705"	"0"	"50"	"22"	"31354670"	"31354670"	"subst"	"0"	"02329"	"MORC2_000003"	"g.31354670C>T"	""	""	""	"MORC2(NM_001303256.2):c.79G>A (p.E27K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30958684C>T"	""	"VUS"	""
"0000291925"	"0"	"50"	"22"	"31336789"	"31336789"	"subst"	"0"	"01943"	"MORC2_000001"	"g.31336789C>A"	""	""	""	"MORC2(NM_014941.3):c.674G>T (p.R225L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.30940802C>A"	""	"VUS"	""
"0000571769"	"0"	"30"	"22"	"31322826"	"31322826"	"subst"	"5.28627E-5"	"02330"	"MORC2_000005"	"g.31322826G>A"	""	""	""	"MORC2(NM_014941.3):c.2877C>T (p.D959=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30926839G>A"	""	"likely benign"	""
"0000571770"	"0"	"10"	"22"	"31328929"	"31328929"	"subst"	"0.00681015"	"02330"	"MORC2_000006"	"g.31328929C>G"	""	""	""	"MORC2(NM_014941.3):c.2283G>C (p.R761=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30932942C>G"	""	"benign"	""
"0000571771"	"0"	"30"	"22"	"31330134"	"31330134"	"subst"	"0.00216076"	"02330"	"MORC2_000007"	"g.31330134T>C"	""	""	""	"MORC2(NM_014941.3):c.2052A>G (p.E684=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30934147T>C"	""	"likely benign"	""
"0000571772"	"0"	"50"	"22"	"31330151"	"31330151"	"subst"	"2.84356E-5"	"02330"	"MORC2_000008"	"g.31330151C>T"	""	""	""	"MORC2(NM_014941.1):c.2035G>A (p.(Ala679Thr)), MORC2(NM_014941.3):c.2035G>A (p.A679T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30934164C>T"	""	"VUS"	""
"0000571774"	"0"	"30"	"22"	"31333595"	"31333595"	"subst"	"4.06299E-6"	"02327"	"MORC2_000010"	"g.31333595C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30937608C>T"	""	"likely benign"	""
"0000571775"	"0"	"10"	"22"	"31333631"	"31333631"	"subst"	"0.352764"	"02330"	"MORC2_000011"	"g.31333631T>C"	""	""	""	"MORC2(NM_014941.3):c.1251A>G (p.P417=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30937644T>C"	""	"benign"	""
"0000571776"	"0"	"90"	"22"	"31334102"	"31334102"	"subst"	"0"	"02327"	"MORC2_000012"	"g.31334102G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30938115G>T"	""	"pathogenic"	""
"0000571777"	"0"	"10"	"22"	"31335967"	"31335967"	"subst"	"0.0124493"	"02330"	"MORC2_000013"	"g.31335967T>A"	""	""	""	"MORC2(NM_014941.3):c.780A>T (p.G260=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30939980T>A"	""	"benign"	""
"0000571778"	"0"	"10"	"22"	"31337565"	"31337565"	"subst"	"0.014653"	"02330"	"MORC2_000014"	"g.31337565A>G"	""	""	""	"MORC2(NM_014941.3):c.513-20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30941578A>G"	""	"benign"	""
"0000571779"	"0"	"10"	"22"	"31342376"	"31342376"	"subst"	"0.320123"	"02330"	"MORC2_000015"	"g.31342376G>C"	""	""	""	"MORC2(NM_014941.3):c.192C>G (p.T64=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30946389G>C"	""	"benign"	""
"0000571780"	"0"	"10"	"22"	"31345821"	"31345821"	"subst"	"0.0113111"	"02330"	"MORC2_000016"	"g.31345821A>C"	""	""	""	"MORC2(NM_014941.3):c.48T>G (p.A16=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30949835A>C"	""	"benign"	""
"0000571781"	"0"	"10"	"22"	"31346345"	"31346345"	"subst"	"0.00265435"	"02330"	"MORC2_000017"	"g.31346345A>G"	""	""	""	"MORC2(NM_014941.3):c.40+18T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30950359A>G"	""	"benign"	""
"0000571782"	"0"	"10"	"22"	"31346443"	"31346443"	"del"	"0.000744382"	"02330"	"MORC2_000018"	"g.31346443del"	""	""	""	"MORC2(NM_014941.3):c.-29-12delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30950457del"	""	"benign"	""
"0000571783"	"0"	"10"	"22"	"31354653"	"31354653"	"subst"	"0.35548"	"02330"	"MORC2_000019"	"g.31354653G>A"	""	""	""	"MORC2(NM_001303256.3):c.96C>T (p.A32=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30958667G>A"	""	"benign"	""
"0000618555"	"0"	"30"	"22"	"31323998"	"31323998"	"subst"	"1.63413E-5"	"02330"	"MORC2_000020"	"g.31323998G>A"	""	""	""	"MORC2(NM_014941.3):c.2844+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30928011G>A"	""	"likely benign"	""
"0000618556"	"0"	"30"	"22"	"31333033"	"31333033"	"subst"	"0.000700605"	"02330"	"MORC2_000022"	"g.31333033A>G"	""	""	""	"MORC2(NM_001303256.3):c.1499-9T>C, MORC2(NM_014941.3):c.1313-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30937046A>G"	""	"likely benign"	""
"0000624287"	"0"	"30"	"22"	"31331279"	"31331279"	"subst"	"0.000577687"	"02330"	"MORC2_000021"	"g.31331279G>A"	""	""	""	"MORC2(NM_014941.3):c.1582C>T (p.L528=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30935292G>A"	""	"likely benign"	""
"0000624288"	"0"	"10"	"22"	"31363813"	"31363813"	"subst"	"0.00234018"	"02330"	"MORC2_000023"	"g.31363813T>C"	""	""	""	"MORC2(NM_001303256.3):c.63A>G (p.T21=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.30967827T>C"	""	"benign"	""
"0000653541"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"01164"	"MORC2_000002"	"g.31337490G>A"	""	""	""	""	"Sevilla et al. 2016. Brain 139: 62"	"Germline"	""	"rs864309503"	"0"	""	""	"g.30941503G>A"	""	"pathogenic"	"ACMG"
"0000674896"	"1"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Sevilla 2016:26497905}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674897"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Sevilla 2016:26497905}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674898"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"754C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674899"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"755C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674900"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"756C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674901"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"757C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674902"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"758C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674903"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"759C>T (R190W)"	""	"Germline"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674904"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"760C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674905"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Ando 2017:28771897}"	""	"761C>T (R190W)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674906"	"0"	"90"	"22"	"31334067"	"31334067"	"subst"	"0"	"00006"	"MORC2_000041"	"g.31334067T>C"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.30938080T>C"	""	"pathogenic (dominant)"	""
"0000674907"	"0"	"50"	"22"	"31334085"	"31334085"	"subst"	"0"	"00006"	"MORC2_000029"	"g.31334085T>C"	""	"{PMID:Ando 2017:28771897}"	""	"1181A>G (Tyr394Cys)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30938098T>C"	""	"VUS"	""
"0000674908"	"0"	"70"	"22"	"31333951"	"31333951"	"subst"	"0"	"00006"	"MORC2_000040"	"g.31333951C>T"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30937964C>T"	""	"likely pathogenic (dominant)"	""
"0000674909"	"0"	"70"	"22"	"31333879"	"31333879"	"subst"	"0"	"00006"	"MORC2_000038"	"g.31333879G>A"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30937892G>A"	""	"likely pathogenic (dominant)"	""
"0000674910"	"0"	"70"	"22"	"31333879"	"31333879"	"subst"	"0"	"00006"	"MORC2_000038"	"g.31333879G>A"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30937892G>A"	""	"likely pathogenic (dominant)"	""
"0000674911"	"1"	"30"	"22"	"31337950"	"31337950"	"subst"	"0.00248946"	"00006"	"MORC2_000024"	"g.31337950T>C"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.30941963T>C"	""	"likely benign"	""
"0000674912"	"0"	"30"	"22"	"31337893"	"31337893"	"subst"	"1.62575E-5"	"00006"	"MORC2_000025"	"g.31337893G>A"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.30941906G>A"	""	"likely benign"	""
"0000674913"	"0"	"30"	"22"	"31328563"	"31328563"	"subst"	"2.43667E-5"	"00006"	"MORC2_000026"	"g.31328563C>T"	""	"{PMID:Ando 2017:28771897}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.30932576C>T"	""	"likely benign"	""
"0000674914"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Hyun 2016:27105897}"	""	"260C>T (Ser87Leu)"	""	"De novo"	""	""	"0"	""	""	"g.30949809G>A"	""	"pathogenic (dominant)"	""
"0000674915"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Hyun 2016:27105897}"	""	"260C>T (Ser87Leu)"	""	"De novo"	""	""	"0"	""	""	"g.30949809G>A"	""	"pathogenic (dominant)"	""
"0000674916"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Hyun 2016:27105897}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674917"	"0"	"90"	"22"	"31342359"	"31342359"	"subst"	"0"	"00006"	"MORC2_000028"	"g.31342359C>A"	""	"{PMID:Hyun 2016:27105897}"	""	"Arg132Leu"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30946372C>A"	""	"pathogenic (dominant)"	""
"0000674918"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Sevilla 2016:26497905}"	""	"260C>T (Ser87Leu)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30949809G>A"	"{CV-SCV:000618293.2}"	"pathogenic (dominant)"	"ACMG"
"0000674919"	"0"	"90"	"22"	"31354678"	"31354678"	"subst"	"0"	"00006"	"MORC2_000046"	"g.31354678G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.71C>T (Thr24Ile)"	"ACMG PS2, PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30958692G>A"	"{CV-SCV:001134972.1}"	"pathogenic (dominant)"	"ACMG"
"0000674920"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.79G>A (Glu27Lys)"	"ACMG PS2 (x4), PS3, PM2, PP4, BP"	"De novo"	""	""	"0"	""	""	"g.30958684C>T"	"{CV-SCV:001134974.1}"	"pathogenic (dominant)"	"ACMG"
"0000674921"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.79G>A (Glu27Lys)"	"ACMG PS2 (x4), PS3, PM2, PP4, BP"	"De novo"	""	""	"0"	""	""	"g.30958684C>T"	"{CV-SCV:001134974.1}"	"pathogenic (dominant)"	"ACMG"
"0000674922"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.79G>A (Glu27Lys)"	"ACMG PS2 (x4), PS3, PM2, PP4, BP"	"De novo"	""	""	"0"	""	""	"g.30958684C>T"	"{CV-SCV:001134974.1}"	"pathogenic (dominant)"	"ACMG"
"0000674923"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.79G>A (Glu27Lys)"	"ACMG PS2 (x4), PS3, PM2, PP4, BP"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30958684C>T"	"{CV-SCV:001134974.1}"	"pathogenic (dominant)"	"ACMG"
"0000674924"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.79G>A (Glu27Lys)"	"ACMG PS2 (x4), PS3, PM2, PP4, BP"	"De novo"	""	""	"0"	""	""	"g.30958684C>T"	"{CV-SCV:001134974.1}"	"pathogenic (dominant)"	"ACMG"
"0000674925"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.260C>T (Ser87Leu)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30949809G>A"	"{CV-SCV:000618293.2}"	"pathogenic (dominant)"	"ACMG"
"0000674926"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.260C>T (Ser87Leu)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30949809G>A"	"{CV-SCV:000618293.2}"	"pathogenic (dominant)"	"ACMG"
"0000674927"	"0"	"70"	"22"	"31345792"	"31345792"	"subst"	"0"	"00006"	"MORC2_000045"	"g.31345792G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.263C>T (Ala88Val)"	"ACMG PS2, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30949806G>A"	"{CV-SCV:000999384.1}"	"likely pathogenic (dominant)"	"ACMG"
"0000674928"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"00006"	"MORC2_000044"	"g.31342360G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.394C>T (Arg132Cys)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30946373G>A"	"{CV-SCV:000571490.3}"	"pathogenic (dominant)"	"ACMG"
"0000674929"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"00006"	"MORC2_000044"	"g.31342360G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.394C>T (Arg132Cys)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30946373G>A"	"{CV-SCV:000571490.3}"	"pathogenic (dominant)"	"ACMG"
"0000674930"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"00006"	"MORC2_000044"	"g.31342360G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.394C>T (Arg132Cys)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30946373G>A"	"{CV-SCV:000571490.3}"	"pathogenic (dominant)"	"ACMG"
"0000674931"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"00006"	"MORC2_000044"	"g.31342360G>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.394C>T (Arg132Cys)"	"ACMG PS2 (x3), PS3, PM2, PP3, PP4; father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30946373G>A"	"{CV-SCV:000571490.3}"	"pathogenic (dominant)"	"ACMG"
"0000674932"	"0"	"90"	"22"	"31337446"	"31337446"	"subst"	"0"	"00006"	"MORC2_000043"	"g.31337446C>G"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.798G>C (Arg266Ser)"	"ACMG PS2, PS3, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30941459C>G"	"{CV-SCV:000573276.4}"	"pathogenic (dominant)"	"ACMG"
"0000674933"	"0"	"70"	"22"	"31334102"	"31334102"	"subst"	"0"	"00006"	"MORC2_000042"	"g.31334102G>C"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.1164C>G (Ser388Arg)"	"ACMG PS2, PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30938115G>C"	"{CV-SCV:001134979.1}"	"likely pathogenic (dominant)"	"ACMG"
"0000674934"	"0"	"70"	"22"	"31334102"	"31334102"	"subst"	"0"	"00006"	"MORC2_000042"	"g.31334102G>C"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.1164C>G (Ser388Arg)"	"ACMG PS2, PM2, PP3, PP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30938115G>C"	"{CV-SCV:001134979.1}"	"likely pathogenic (dominant)"	"ACMG"
"0000674935"	"0"	"90"	"22"	"31334085"	"31334085"	"subst"	"0"	"00006"	"MORC2_000029"	"g.31334085T>C"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.1181A>G (Tyr394Cys)"	"ACMG PS2 (x2), PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30938098T>C"	"{CV-SCV:000589765.2}"	"pathogenic (dominant)"	"ACMG"
"0000674936"	"0"	"90"	"22"	"31334085"	"31334085"	"subst"	"0"	"00006"	"MORC2_000029"	"g.31334085T>C"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.1181A>G (Tyr394Cys)"	"ACMG PS2 (x2), PM2, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.30938098T>C"	"{CV-SCV:000589765.2}"	"pathogenic (dominant)"	"ACMG"
"0000674937"	"21"	"70"	"22"	"31333934"	"31333934"	"subst"	"0"	"00006"	"MORC2_000039"	"g.31333934C>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.1237G>T (Val413Phe)"	"ACMG PS3, PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.30937947C>A"	"{CV-SCV:001134978.1}"	"likely pathogenic (dominant)"	"ACMG"
"0000674938"	"0"	"70"	"22"	"31333934"	"31333934"	"subst"	"0"	"00006"	"MORC2_000039"	"g.31333934C>A"	""	"{PMID:Sacoto 2020:32693025}"	""	"NM_001303256.1:c.1237G>T (Val413Phe)"	"ACMG PS3, PM2, PP3, PP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30937947C>A"	"{CV-SCV:001134978.1}"	"likely pathogenic (dominant)"	"ACMG"
"0000674939"	"1"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Albulym 2016:26659848}"	""	"754C>T (Arg252Trp)"	""	"Germline"	"yes"	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674940"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Albulym 2016:26659848}"	""	"754C>T (Arg252Trp)"	""	"De novo"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674941"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Albulym 2016:26659848}"	""	"754C>T (Arg252Trp)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0000674942"	"21"	"90"	"22"	"31337537"	"31337537"	"subst"	"0"	"00006"	"MORC2_000030"	"g.31337537T>C"	""	"{PMID:Albulym 2016:26659848}"	""	"707A>G (E236G)"	""	"Germline"	""	""	"0"	""	""	"g.30941550T>C"	""	"pathogenic (dominant)"	""
"0000674943"	"0"	"90"	"22"	"31337537"	"31337537"	"subst"	"0"	"00006"	"MORC2_000030"	"g.31337537T>C"	""	"{PMID:Albulym 2016:26659848}"	""	"707A>G (E236G)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941550T>C"	""	"pathogenic (dominant)"	""
"0000674944"	"0"	"50"	"22"	"31336801"	"31336801"	"subst"	"0"	"00006"	"MORC2_000031"	"g.31336801C>T"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.848G>A (R283H)"	""	"Germline"	"no"	""	"0"	""	""	"g.30940814C>T"	""	"VUS"	""
"0000674945"	"0"	"50"	"22"	"31331294"	"31331294"	"subst"	"1.63001E-5"	"00006"	"MORC2_000032"	"g.31331294G>A"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.1753C>T (R585C)"	""	"Germline"	"no"	""	"0"	""	""	"g.30935307G>A"	""	"VUS"	""
"0000674946"	"0"	"50"	"22"	"31333672"	"31333672"	"subst"	"0"	"00006"	"MORC2_000033"	"g.31333672C>G"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.1396G>C (D456H)"	""	"Germline"	"no"	""	"0"	""	""	"g.30937685C>G"	""	"VUS"	""
"0000674947"	"0"	"50"	"22"	"31330102"	"31330102"	"subst"	"2.84264E-5"	"00006"	"MORC2_000034"	"g.31330102T>C"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.2270A>G (E757G)"	""	"Germline"	"no"	""	"0"	""	""	"g.30934115T>C"	""	"VUS"	""
"0000674948"	"0"	"50"	"22"	"31337501"	"31337501"	"subst"	"0"	"00006"	"MORC2_000035"	"g.31337501T>C"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.743A>G (Y248C)"	""	"Germline"	"no"	""	"0"	""	""	"g.30941514T>C"	""	"VUS"	""
"0000674949"	"0"	"50"	"22"	"31333841"	"31333841"	"subst"	"0"	"00006"	"MORC2_000036"	"g.31333841C>T"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.1330C>T (G444R)"	"variant found in control chromosomes"	"Germline"	""	""	"0"	""	""	"g.30937854C>T"	""	"VUS"	""
"0000674950"	"0"	"50"	"22"	"31345769"	"31345769"	"subst"	"1.6251E-5"	"00006"	"MORC2_000037"	"g.31345769G>C"	""	"{PMID:Albulym 2016:26659848}"	""	"NM_001303256.1:c.286C>G (Q96E)"	"variant found in control chromosomes"	"Germline"	""	""	"0"	""	""	"g.30949783G>C"	""	"VUS"	""
"0000681852"	"0"	"30"	"22"	"31363813"	"31363813"	"subst"	"0.00234018"	"02326"	"MORC2_000023"	"g.31363813T>C"	""	""	""	"MORC2(NM_001303256.3):c.63A>G (p.T21=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728107"	"0"	"50"	"22"	"31328646"	"31328646"	"subst"	"8.12308E-6"	"02330"	"MORC2_000047"	"g.31328646T>A"	""	""	""	"MORC2(NM_014941.3):c.2447A>T (p.Q816L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728108"	"0"	"10"	"22"	"31332494"	"31332494"	"subst"	"0.00100385"	"02330"	"MORC2_000048"	"g.31332494G>A"	""	""	""	"MORC2(NM_014941.3):c.1551+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000728109"	"0"	"50"	"22"	"31333901"	"31333901"	"subst"	"0"	"02325"	"MORC2_000049"	"g.31333901T>C"	""	""	""	"MORC2(NM_001303256.3):c.1270A>G (p.T424A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728110"	"0"	"50"	"22"	"31334085"	"31334085"	"subst"	"0"	"02329"	"MORC2_000029"	"g.31334085T>C"	""	""	""	"MORC2(NM_014941.3):c.995A>G (p.Y332C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728111"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"01943"	"MORC2_000003"	"g.31354670C>T"	""	""	""	"MORC2(NM_001303256.2):c.79G>A (p.E27K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000809569"	"0"	"30"	"22"	"31329517"	"31329517"	"subst"	"2.0352E-5"	"02330"	"MORC2_000050"	"g.31329517G>C"	""	""	""	"MORC2(NM_001303256.3):c.2326-10C>G, MORC2(NM_014941.3):c.2140-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809570"	"0"	"30"	"22"	"31333033"	"31333033"	"subst"	"0.000700605"	"02326"	"MORC2_000022"	"g.31333033A>G"	""	""	""	"MORC2(NM_001303256.3):c.1499-9T>C, MORC2(NM_014941.3):c.1313-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000839788"	"0"	"70"	"22"	"31333841"	"31333841"	"subst"	"0"	"04268"	"MORC2_000036"	"g.31333841C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30937854C>T"	""	"pathogenic"	""
"0000839789"	"0"	"70"	"22"	"31333833"	"31333833"	"subst"	"0"	"04268"	"MORC2_000051"	"g.31333833G>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.30937846G>T"	""	"pathogenic"	""
"0000866814"	"0"	"70"	"22"	"31354670"	"31354670"	"subst"	"0"	"02327"	"MORC2_000003"	"g.31354670C>T"	""	""	""	"MORC2(NM_001303256.2):c.79G>A (p.E27K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000895680"	"0"	"50"	"22"	"31324165"	"31324165"	"subst"	"0"	"02330"	"MORC2_000052"	"g.31324165C>A"	""	""	""	"MORC2(NM_014941.3):c.2685G>T (p.G895=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895681"	"0"	"30"	"22"	"31324165"	"31324165"	"subst"	"0"	"02327"	"MORC2_000052"	"g.31324165C>A"	""	""	""	"MORC2(NM_014941.3):c.2685G>T (p.G895=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895682"	"0"	"30"	"22"	"31331113"	"31331113"	"subst"	"4.08097E-6"	"02330"	"MORC2_000053"	"g.31331113G>A"	""	""	""	"MORC2(NM_014941.3):c.1662C>T (p.P554=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895683"	"0"	"50"	"22"	"31338205"	"31338205"	"subst"	"1.21903E-5"	"02330"	"MORC2_000054"	"g.31338205G>T"	""	""	""	"MORC2(NM_001303256.3):c.480C>A (p.(Asp160Glu)), MORC2(NM_014941.3):c.294C>A (p.D98E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895684"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"01804"	"MORC2_000044"	"g.31342360G>A"	""	""	""	"MORC2(NM_014941.1):c.208C>T (p.(Arg70Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000915526"	"0"	"50"	"22"	"31330823"	"31330823"	"subst"	"0"	"02330"	"MORC2_000055"	"g.31330823T>G"	""	""	""	"MORC2(NM_014941.3):c.1952A>C (p.K651T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000915527"	"0"	"30"	"22"	"31333655"	"31333655"	"subst"	"0"	"02330"	"MORC2_000056"	"g.31333655G>C"	""	""	""	"MORC2(NM_014941.3):c.1227C>G (p.L409=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915528"	"0"	"30"	"22"	"31334099"	"31334099"	"subst"	"4.06111E-6"	"02330"	"MORC2_000057"	"g.31334099T>G"	""	""	""	"MORC2(NM_014941.3):c.981A>C (p.R327=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000931275"	"0"	"30"	"22"	"31333027"	"31333027"	"subst"	"0"	"02330"	"MORC2_000058"	"g.31333027G>A"	""	""	""	"MORC2(NM_014941.3):c.1313-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000931276"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"02327"	"MORC2_000044"	"g.31342360G>A"	""	""	""	"MORC2(NM_014941.1):c.208C>T (p.(Arg70Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000931277"	"0"	"70"	"22"	"31342426"	"31342426"	"subst"	"0"	"02327"	"MORC2_000059"	"g.31342426G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000951593"	"0"	"50"	"22"	"31333621"	"31333621"	"subst"	"0"	"02330"	"MORC2_000060"	"g.31333621G>C"	""	""	""	"MORC2(NM_014941.3):c.1261C>G (p.L421V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006007"	"0"	"10"	"22"	"31328326"	"31328326"	"subst"	"0.0066293"	"02330"	"MORC2_000062"	"g.31328326G>A"	""	""	""	"MORC2(NM_014941.3):c.2655+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001006008"	"0"	"30"	"22"	"31330151"	"31330151"	"subst"	"2.84356E-5"	"01804"	"MORC2_000008"	"g.31330151C>T"	""	""	""	"MORC2(NM_014941.1):c.2035G>A (p.(Ala679Thr)), MORC2(NM_014941.3):c.2035G>A (p.A679T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006009"	"0"	"30"	"22"	"31330790"	"31330790"	"subst"	"0"	"01804"	"MORC2_000063"	"g.31330790T>C"	""	""	""	"MORC2(NM_014941.1):c.1985A>G (p.(Glu662Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006010"	"0"	"50"	"22"	"31332920"	"31332920"	"subst"	"1.6262E-5"	"01804"	"MORC2_000064"	"g.31332920G>A"	""	""	""	"MORC2(NM_014941.1):c.1417C>T (p.(Arg473Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006011"	"0"	"50"	"22"	"31334148"	"31334148"	"subst"	"4.06174E-6"	"01804"	"MORC2_000065"	"g.31334148T>C"	""	""	""	"MORC2(NM_014941.1):c.932A>G (p.(Asn311Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006012"	"0"	"50"	"22"	"31335959"	"31335959"	"subst"	"4.07017E-6"	"01804"	"MORC2_000066"	"g.31335959G>A"	""	""	""	"MORC2(NM_014941.1):c.788C>T (p.(Thr263Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006013"	"0"	"50"	"22"	"31336016"	"31336016"	"subst"	"0"	"01804"	"MORC2_000067"	"g.31336016G>A"	""	""	""	"MORC2(NM_014941.1):c.731C>T (p.(Ala244Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006014"	"0"	"50"	"22"	"31345769"	"31345769"	"subst"	"1.6251E-5"	"01804"	"MORC2_000037"	"g.31345769G>C"	""	""	""	"MORC2(NM_001303256.3):c.286C>G (p.(Gln34Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001011760"	"0"	"70"	"22"	"31345826"	"31345826"	"subst"	"0"	"03544"	"MORC2_000068"	"g.31345826C>G"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.30949840C>G"	""	"likely pathogenic"	"ACMG"
"0001015936"	"0"	"10"	"22"	"31328555"	"31328555"	"subst"	"8.93495E-5"	"02330"	"MORC2_000069"	"g.31328555G>A"	""	""	""	"MORC2(NM_014941.3):c.2538C>T (p.I846=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001021202"	"0"	"50"	"22"	"31333938"	"31333946"	"dup"	"0"	"03779"	"MORC2_000070"	"g.31333938_31333946dup"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1555938722"	"0"	""	""	""	""	"VUS"	""
"0001043818"	"0"	"30"	"22"	"31329517"	"31329517"	"subst"	"2.0352E-5"	"01804"	"MORC2_000050"	"g.31329517G>C"	""	""	""	"MORC2(NM_001303256.3):c.2326-10C>G, MORC2(NM_014941.3):c.2140-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001043819"	"0"	"30"	"22"	"31330091"	"31330091"	"subst"	"3.24881E-5"	"01804"	"MORC2_000071"	"g.31330091G>A"	""	""	""	"MORC2(NM_001303256.3):c.2281C>T (p.(Arg761Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001043820"	"0"	"70"	"22"	"31337490"	"31337490"	"subst"	"0"	"02330"	"MORC2_000002"	"g.31337490G>A"	""	""	""	"MORC2(NM_014941.3):c.568C>T (p.R190W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001043821"	"0"	"30"	"22"	"31338205"	"31338205"	"subst"	"1.21903E-5"	"01804"	"MORC2_000054"	"g.31338205G>T"	""	""	""	"MORC2(NM_001303256.3):c.480C>A (p.(Asp160Glu)), MORC2(NM_014941.3):c.294C>A (p.D98E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001043822"	"0"	"30"	"22"	"31359323"	"31359323"	"subst"	"0"	"01804"	"MORC2_000072"	"g.31359323G>A"	""	""	""	"MORC2(NM_014941.3):c.-228-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001057127"	"0"	"30"	"22"	"31330937"	"31330937"	"subst"	"1.21948E-5"	"01804"	"MORC2_000073"	"g.31330937C>T"	""	""	""	"MORC2(NM_001303256.3):c.2024G>A (p.(Arg675Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001061754"	"0"	"90"	"22"	"31334085"	"31334085"	"subst"	"0"	"00006"	"MORC2_000029"	"g.31334085T>C"	""	"{PMID:Zech 2020:33098801}"	""	"NM_014941.1:c.995A>G"	""	"De novo"	""	""	"0"	""	""	"g.30938098T>C"	""	"pathogenic (dominant)"	""
"0001067502"	"0"	"50"	"22"	"31342426"	"31342426"	"subst"	"0"	"02325"	"MORC2_000059"	"g.31342426G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001070012"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PS2_VS, PS4_mod, PM2"	"Germline"	""	""	"0"	""	""	"g.30941503G>A"	"SCV006075062"	"pathogenic"	"ACMG"
"0001084149"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30958684C>T"	""	"pathogenic (dominant)"	""
"0001084150"	"0"	"90"	"22"	"31354670"	"31354670"	"subst"	"0"	"00006"	"MORC2_000003"	"g.31354670C>T"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30958684C>T"	""	"pathogenic (dominant)"	""
"0001084151"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30949809G>A"	""	"pathogenic (dominant)"	""
"0001084152"	"0"	"90"	"22"	"31345795"	"31345795"	"subst"	"0"	"00006"	"MORC2_000027"	"g.31345795G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30949809G>A"	""	"pathogenic (dominant)"	""
"0001084153"	"0"	"70"	"22"	"31345790"	"31345790"	"subst"	"0"	"00006"	"chr22_003301"	"g.31345790T>C"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2"	"De novo"	""	""	"0"	""	""	"g.30949804T>C"	""	"likely pathogenic (dominant)"	""
"0001084154"	"0"	"90"	"22"	"31342360"	"31342360"	"subst"	"0"	"00006"	"MORC2_000044"	"g.31342360G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30946373G>A"	""	"pathogenic (dominant)"	""
"0001084155"	"0"	"70"	"22"	"31333891"	"31333891"	"subst"	"0"	"00006"	"chr22_003302"	"g.31333891T>C"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2, PP5"	"De novo"	""	""	"0"	""	""	"g.30937904T>C"	""	"likely pathogenic (dominant)"	""
"0001084156"	"0"	"70"	"22"	"31333901"	"31333901"	"subst"	"0"	"00006"	"MORC2_000049"	"g.31333901T>C"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2, PP5"	"De novo"	""	""	"0"	""	""	"g.30937914T>C"	"VCV001415141"	"likely pathogenic (dominant)"	""
"0001084157"	"0"	"70"	"22"	"31342426"	"31342426"	"subst"	"0"	"00006"	"MORC2_000059"	"g.31342426G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2, PP5"	"De novo"	""	""	"0"	""	""	"g.30946439G>A"	"VCV000992297"	"likely pathogenic (dominant)"	""
"0001084158"	"0"	"70"	"22"	"31342426"	"31342426"	"subst"	"0"	"00006"	"MORC2_000059"	"g.31342426G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2, PP5; mosaic (0.17-0.33)"	"Somatic"	""	""	"0"	""	""	"g.30946439G>A"	"VCV000992297"	"likely pathogenic (dominant)"	""
"0001084159"	"0"	"70"	"22"	"31342426"	"31342426"	"subst"	"0"	"00006"	"MORC2_000059"	"g.31342426G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2, PP5"	"Germline"	""	""	"0"	""	""	"g.30946439G>A"	"VCV000992297"	"likely pathogenic (dominant)"	""
"0001084160"	"0"	"70"	"22"	"31342426"	"31342426"	"subst"	"0"	"00006"	"MORC2_000059"	"g.31342426G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, PP3, PS2, PP5"	"Germline"	""	""	"0"	""	""	"g.30946439G>A"	"VCV000992297"	"likely pathogenic (dominant)"	""
"0001084161"	"0"	"90"	"22"	"31334085"	"31334085"	"subst"	"0"	"00006"	"MORC2_000029"	"g.31334085T>C"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.30938098T>C"	""	"pathogenic (dominant)"	""
"0001084162"	"0"	"90"	"22"	"31337490"	"31337490"	"subst"	"0"	"00006"	"MORC2_000002"	"g.31337490G>A"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30941503G>A"	""	"pathogenic (dominant)"	""
"0001084163"	"0"	"90"	"22"	"31333671"	"31333671"	"subst"	"0"	"00006"	"chr22_003303"	"g.31333671T>C"	""	"{PMID:Murtazina 2026:42665440}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30937684T>C"	""	"pathogenic (dominant)"	""
"0001084164"	"0"	"50"	"22"	"31330967"	"31330967"	"subst"	"4.06504E-6"	"00006"	"chr22_003304"	"g.31330967G>C"	""	"{PMID:Murtazina 2026:42665440}"	""	""	"ACMG PM2, BP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.30934980G>C"	"VCV001424761"	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MORC2
## Count = 137
"{{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}}"
"0000283703"	"00025539"	"70"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000283704"	"00025539"	"70"	"70"	"0"	"70"	"0"	"c.70A>G"	"r.(?)"	"p.(Thr24Ala)"	""
"0000283705"	"00025539"	"50"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000291925"	"00025539"	"50"	"860"	"0"	"860"	"0"	"c.860G>T"	"r.(?)"	"p.(Arg287Leu)"	""
"0000571769"	"00025539"	"30"	"3063"	"0"	"3063"	"0"	"c.3063C>T"	"r.(?)"	"p.(Asp1021=)"	""
"0000571770"	"00025539"	"10"	"2469"	"0"	"2469"	"0"	"c.2469G>C"	"r.(?)"	"p.(Arg823=)"	""
"0000571771"	"00025539"	"30"	"2238"	"0"	"2238"	"0"	"c.2238A>G"	"r.(?)"	"p.(Glu746=)"	""
"0000571772"	"00025539"	"50"	"2221"	"0"	"2221"	"0"	"c.2221G>A"	"r.(?)"	"p.(Ala741Thr)"	""
"0000571774"	"00025539"	"30"	"1473"	"0"	"1473"	"0"	"c.1473G>A"	"r.(?)"	"p.(Met491Ile)"	""
"0000571775"	"00025539"	"10"	"1437"	"0"	"1437"	"0"	"c.1437A>G"	"r.(?)"	"p.(Pro479=)"	""
"0000571776"	"00025539"	"90"	"1164"	"0"	"1164"	"0"	"c.1164C>A"	"r.(?)"	"p.(Ser388Arg)"	""
"0000571777"	"00025539"	"10"	"966"	"0"	"966"	"0"	"c.966A>T"	"r.(?)"	"p.(Gly322=)"	""
"0000571778"	"00025539"	"10"	"699"	"-20"	"699"	"-20"	"c.699-20T>C"	"r.(=)"	"p.(=)"	""
"0000571779"	"00025539"	"10"	"378"	"0"	"378"	"0"	"c.378C>G"	"r.(?)"	"p.(Thr126=)"	""
"0000571780"	"00025539"	"10"	"234"	"0"	"234"	"0"	"c.234T>G"	"r.(?)"	"p.(Ala78=)"	""
"0000571781"	"00025539"	"10"	"226"	"18"	"226"	"18"	"c.226+18T>C"	"r.(=)"	"p.(=)"	""
"0000571782"	"00025539"	"10"	"158"	"-12"	"158"	"-12"	"c.158-12del"	"r.(=)"	"p.(=)"	""
"0000571783"	"00025539"	"10"	"96"	"0"	"96"	"0"	"c.96C>T"	"r.(?)"	"p.(Ala32=)"	""
"0000618555"	"00025539"	"30"	"3030"	"8"	"3030"	"8"	"c.3030+8C>T"	"r.(=)"	"p.(=)"	""
"0000618556"	"00025539"	"30"	"1499"	"-9"	"1499"	"-9"	"c.1499-9T>C"	"r.(=)"	"p.(=)"	""
"0000624287"	"00025539"	"30"	"1768"	"0"	"1768"	"0"	"c.1768C>T"	"r.(?)"	"p.(Leu590=)"	""
"0000624288"	"00025539"	"10"	"63"	"0"	"63"	"0"	"c.63A>G"	"r.(?)"	"p.(Thr21=)"	""
"0000653541"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674896"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674897"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674898"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674899"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674900"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674901"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674902"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674903"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674904"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674905"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674906"	"00025539"	"90"	"1199"	"0"	"1199"	"0"	"c.1199A>G"	"r.(?)"	"p.(Gln400Arg)"	""
"0000674907"	"00025539"	"50"	"1181"	"0"	"1181"	"0"	"c.1181A>G"	"r.(?)"	"p.(Tyr394Cys)"	""
"0000674908"	"00025539"	"70"	"1220"	"0"	"1220"	"0"	"c.1220G>A"	"r.(?)"	"p.(Cys407Tyr)"	""
"0000674909"	"00025539"	"70"	"1292"	"0"	"1292"	"0"	"c.1292C>T"	"r.(?)"	"p.(Ala431Val)"	""
"0000674910"	"00025539"	"70"	"1292"	"0"	"1292"	"0"	"c.1292C>T"	"r.(?)"	"p.(Ala431Val)"	""
"0000674911"	"00025539"	"30"	"626"	"0"	"626"	"0"	"c.626A>G"	"r.(?)"	"p.(Asn209Ser)"	""
"0000674912"	"00025539"	"30"	"683"	"0"	"683"	"0"	"c.683C>T"	"r.(?)"	"p.(Thr228Met)"	""
"0000674913"	"00025539"	"30"	"2716"	"0"	"2716"	"0"	"c.2716G>A"	"r.(?)"	"p.(Glu906Lys)"	""
"0000674914"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0000674915"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0000674916"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674917"	"00025539"	"90"	"395"	"0"	"395"	"0"	"c.395G>T"	"r.(?)"	"p.(Arg132Leu)"	""
"0000674918"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0000674919"	"00025539"	"90"	"71"	"0"	"71"	"0"	"c.71C>T"	"r.(?)"	"p.(Thr24Ile)"	""
"0000674920"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000674921"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000674922"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000674923"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000674924"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000674925"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0000674926"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0000674927"	"00025539"	"70"	"263"	"0"	"263"	"0"	"c.263C>T"	"r.(?)"	"p.(Ala88Val)"	""
"0000674928"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0000674929"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0000674930"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0000674931"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0000674932"	"00025539"	"90"	"798"	"0"	"798"	"0"	"c.798G>C"	"r.(?)"	"p.(Arg266Ser)"	""
"0000674933"	"00025539"	"70"	"1164"	"0"	"1164"	"0"	"c.1164C>G"	"r.(?)"	"p.(Ser388Arg)"	""
"0000674934"	"00025539"	"70"	"1164"	"0"	"1164"	"0"	"c.1164C>G"	"r.(?)"	"p.(Ser388Arg)"	""
"0000674935"	"00025539"	"90"	"1181"	"0"	"1181"	"0"	"c.1181A>G"	"r.(?)"	"p.(Tyr394Cys)"	""
"0000674936"	"00025539"	"90"	"1181"	"0"	"1181"	"0"	"c.1181A>G"	"r.(?)"	"p.(Tyr394Cys)"	""
"0000674937"	"00025539"	"70"	"1237"	"0"	"1237"	"0"	"c.1237G>T"	"r.(?)"	"p.(Val413Phe)"	""
"0000674938"	"00025539"	"70"	"1237"	"0"	"1237"	"0"	"c.1237G>T"	"r.(?)"	"p.(Val413Phe)"	""
"0000674939"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674940"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674941"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0000674942"	"00025539"	"90"	"707"	"0"	"707"	"0"	"c.707A>G"	"r.(?)"	"p.(Glu236Gly)"	""
"0000674943"	"00025539"	"90"	"707"	"0"	"707"	"0"	"c.707A>G"	"r.(?)"	"p.(Glu236Gly)"	""
"0000674944"	"00025539"	"50"	"848"	"0"	"848"	"0"	"c.848G>A"	"r.(?)"	"p.(Arg283His)"	""
"0000674945"	"00025539"	"50"	"1753"	"0"	"1753"	"0"	"c.1753C>T"	"r.(?)"	"p.(Arg585Cys)"	""
"0000674946"	"00025539"	"50"	"1396"	"0"	"1396"	"0"	"c.1396G>C"	"r.(?)"	"p.(Asp466His)"	""
"0000674947"	"00025539"	"50"	"2270"	"0"	"2270"	"0"	"c.2270A>G"	"r.(?)"	"p.(Glu757Gly)"	""
"0000674948"	"00025539"	"50"	"743"	"0"	"743"	"0"	"c.743A>G"	"r.(?)"	"p.(Tyr248Cys)"	""
"0000674949"	"00025539"	"50"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Gly444Arg)"	""
"0000674950"	"00025539"	"50"	"286"	"0"	"286"	"0"	"c.286C>G"	"r.(?)"	"p.(Gln96Glu)"	""
"0000681852"	"00025539"	"30"	"63"	"0"	"63"	"0"	"c.63A>G"	"r.(?)"	"p.(Thr21=)"	""
"0000728107"	"00025539"	"50"	"2633"	"0"	"2633"	"0"	"c.2633A>T"	"r.(?)"	"p.(Gln878Leu)"	""
"0000728108"	"00025539"	"10"	"1737"	"4"	"1737"	"4"	"c.1737+4C>T"	"r.spl?"	"p.?"	""
"0000728109"	"00025539"	"50"	"1270"	"0"	"1270"	"0"	"c.1270A>G"	"r.(?)"	"p.(Thr424Ala)"	""
"0000728110"	"00025539"	"50"	"1181"	"0"	"1181"	"0"	"c.1181A>G"	"r.(?)"	"p.(Tyr394Cys)"	""
"0000728111"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000809569"	"00025539"	"30"	"2326"	"-10"	"2326"	"-10"	"c.2326-10C>G"	"r.(=)"	"p.(=)"	""
"0000809570"	"00025539"	"30"	"1499"	"-9"	"1499"	"-9"	"c.1499-9T>C"	"r.(=)"	"p.(=)"	""
"0000839788"	"00025539"	"70"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Gly444Arg)"	""
"0000839789"	"00025539"	"70"	"1338"	"0"	"1338"	"0"	"c.1338C>A"	"r.(?)"	"p.(His446Gln)"	""
"0000866814"	"00025539"	"70"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0000895680"	"00025539"	"50"	"2871"	"0"	"2871"	"0"	"c.2871G>T"	"r.(?)"	"p.(Gly957=)"	""
"0000895681"	"00025539"	"30"	"2871"	"0"	"2871"	"0"	"c.2871G>T"	"r.(?)"	"p.(Gly957=)"	""
"0000895682"	"00025539"	"30"	"1848"	"0"	"1848"	"0"	"c.1848C>T"	"r.(?)"	"p.(Pro616=)"	""
"0000895683"	"00025539"	"50"	"480"	"0"	"480"	"0"	"c.480C>A"	"r.(?)"	"p.(Asp160Glu)"	""
"0000895684"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0000915526"	"00025539"	"50"	"2138"	"0"	"2138"	"0"	"c.2138A>C"	"r.(?)"	"p.(Lys713Thr)"	""
"0000915527"	"00025539"	"30"	"1413"	"0"	"1413"	"0"	"c.1413C>G"	"r.(?)"	"p.(Leu471=)"	""
"0000915528"	"00025539"	"30"	"1167"	"0"	"1167"	"0"	"c.1167A>C"	"r.(?)"	"p.(Arg389=)"	""
"0000931275"	"00025539"	"30"	"1499"	"-3"	"1499"	"-3"	"c.1499-3C>T"	"r.spl?"	"p.?"	""
"0000931276"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0000931277"	"00025539"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	""
"0000951593"	"00025539"	"50"	"1447"	"0"	"1447"	"0"	"c.1447C>G"	"r.(?)"	"p.(Leu483Val)"	""
"0001006007"	"00025539"	"10"	"2841"	"20"	"2841"	"20"	"c.2841+20C>T"	"r.(=)"	"p.(=)"	""
"0001006008"	"00025539"	"30"	"2221"	"0"	"2221"	"0"	"c.2221G>A"	"r.(?)"	"p.(Ala741Thr)"	""
"0001006009"	"00025539"	"30"	"2171"	"0"	"2171"	"0"	"c.2171A>G"	"r.(?)"	"p.(Glu724Gly)"	""
"0001006010"	"00025539"	"50"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Trp)"	""
"0001006011"	"00025539"	"50"	"1118"	"0"	"1118"	"0"	"c.1118A>G"	"r.(?)"	"p.(Asn373Ser)"	""
"0001006012"	"00025539"	"50"	"974"	"0"	"974"	"0"	"c.974C>T"	"r.(?)"	"p.(Thr325Met)"	""
"0001006013"	"00025539"	"50"	"917"	"0"	"917"	"0"	"c.917C>T"	"r.(?)"	"p.(Ala306Val)"	""
"0001006014"	"00025539"	"50"	"286"	"0"	"286"	"0"	"c.286C>G"	"r.(?)"	"p.(Gln96Glu)"	""
"0001011760"	"00025539"	"70"	"229"	"0"	"229"	"0"	"c.229G>C"	"r.(?)"	"p.(Asp77His)"	"5"
"0001015936"	"00025539"	"10"	"2724"	"0"	"2724"	"0"	"c.2724C>T"	"r.(?)"	"p.(=)"	""
"0001021202"	"00025539"	"50"	"1235"	"0"	"1243"	"0"	"c.1235_1243dup"	"r.(?)"	"p.(Gly412_Val414dup)"	""
"0001043818"	"00025539"	"30"	"2326"	"-10"	"2326"	"-10"	"c.2326-10C>G"	"r.(=)"	"p.(=)"	""
"0001043819"	"00025539"	"30"	"2281"	"0"	"2281"	"0"	"c.2281C>T"	"r.(?)"	"p.(Arg761Trp)"	""
"0001043820"	"00025539"	"70"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0001043821"	"00025539"	"30"	"480"	"0"	"480"	"0"	"c.480C>A"	"r.(?)"	"p.(Asp160Glu)"	""
"0001043822"	"00025539"	"30"	"68"	"4485"	"68"	"4485"	"c.68+4485C>T"	"r.(=)"	"p.(=)"	""
"0001057127"	"00025539"	"30"	"2024"	"0"	"2024"	"0"	"c.2024G>A"	"r.(?)"	"p.(Arg675Gln)"	""
"0001061754"	"00025539"	"90"	"1181"	"0"	"1181"	"0"	"c.1181A>G"	"r.(?)"	"p.(Tyr394Cys)"	""
"0001067502"	"00025539"	"50"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	""
"0001070012"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0001084149"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0001084150"	"00025539"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Glu27Lys)"	""
"0001084151"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0001084152"	"00025539"	"90"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0001084153"	"00025539"	"70"	"265"	"0"	"265"	"0"	"c.265A>G"	"r.(?)"	"p.(Lys89Glu)"	""
"0001084154"	"00025539"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Cys)"	""
"0001084155"	"00025539"	"70"	"1280"	"0"	"1280"	"0"	"c.1280A>G"	"r.(?)"	"p.(Lys427Arg)"	""
"0001084156"	"00025539"	"70"	"1270"	"0"	"1270"	"0"	"c.1270A>G"	"r.(?)"	"p.(Thr424Ala)"	""
"0001084157"	"00025539"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	""
"0001084158"	"00025539"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	""
"0001084159"	"00025539"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	""
"0001084160"	"00025539"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	""
"0001084161"	"00025539"	"90"	"1181"	"0"	"1181"	"0"	"c.1181A>G"	"r.(?)"	"p.(Tyr394Cys)"	""
"0001084162"	"00025539"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Trp)"	""
"0001084163"	"00025539"	"90"	"1397"	"0"	"1397"	"0"	"c.1397A>G"	"r.(?)"	"p.(Asp466Gly)"	""
"0001084164"	"00025539"	"50"	"1994"	"0"	"1994"	"0"	"c.1994C>G"	"r.(?)"	"p.(Ser665Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 77
"{{screeningid}}"	"{{variantid}}"
"0000296825"	"0000653541"
"0000308054"	"0000674896"
"0000308055"	"0000674897"
"0000308056"	"0000674898"
"0000308057"	"0000674899"
"0000308058"	"0000674900"
"0000308059"	"0000674901"
"0000308060"	"0000674902"
"0000308061"	"0000674903"
"0000308062"	"0000674904"
"0000308063"	"0000674905"
"0000308064"	"0000674906"
"0000308065"	"0000674907"
"0000308066"	"0000674908"
"0000308067"	"0000674909"
"0000308068"	"0000674910"
"0000308069"	"0000674911"
"0000308070"	"0000674912"
"0000308071"	"0000674913"
"0000308072"	"0000674914"
"0000308073"	"0000674915"
"0000308074"	"0000674916"
"0000308075"	"0000674917"
"0000308076"	"0000674918"
"0000308077"	"0000674919"
"0000308078"	"0000674920"
"0000308079"	"0000674921"
"0000308080"	"0000674922"
"0000308081"	"0000674923"
"0000308082"	"0000674924"
"0000308083"	"0000674925"
"0000308084"	"0000674926"
"0000308085"	"0000674927"
"0000308086"	"0000674928"
"0000308087"	"0000674929"
"0000308088"	"0000674930"
"0000308089"	"0000674931"
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