### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MICU1)
# 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}}"
"MICU1"	"mitochondrial calcium uptake 1"	"10"	"q22.1"	"unknown"	"NG_033179.1"	"UD_136022874352"	""	"http://www.LOVD.nl/MICU1"	""	"1"	"1530"	"10367"	"605084"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>\r\nThe link between MICU1 and disease could be established when (pre-publication) Marjolein Kriek reported MICU1 variants using <font color=\"#FF0000\"><b>LOVD\'s VIP option</b></font>, asking others to contact her when similar variant/phenotype associations were observed. The request was successful and lead to the definite association as published by Logan et al. (2014)."	""	"g"	"http://databases.lovd.nl/shared/refseq/MICU1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a></b></font>"	"-1"	""	"-1"	"00006"	"2013-01-23 00:00:00"	"00006"	"2016-04-22 15:50:16"	"00006"	"2025-11-13 13:04:16"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00026010"	"MICU1"	"transcript variant 2 (expired, new version available)"	"001"	"NM_001195518.2"	""	"NP_001182447.1"	""	""	"MANE select"	"-183"	"2300"	"1431"	"74385949"	"74127084"	"00006"	"2025-09-08 12:17:14"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{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"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00141"	"LGMD2"	"dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)"	""	""	""	""	""	"00006"	"2013-06-10 21:06:19"	"00006"	"2021-12-11 13:56:28"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00212"	"SCZD"	"schizophrenia (SCZD)"	"AD"	"181500"	""	""	""	"00006"	"2013-09-24 21:08:12"	"00006"	"2021-12-10 21:51:32"
"00244"	"MYOP"	"myopathy (MYOP)"	""	""	""	""	""	"00006"	"2013-10-12 23:00:55"	"00006"	"2019-06-19 11:52:31"
"00360"	"MDC"	"dystrophy, muscular, congenital (MDC)"	""	""	""	""	""	"00006"	"2014-03-21 23:02:36"	"00006"	"2018-07-03 16:30:02"
"01273"	"hCK"	"hyperCKemia (hCK, elevated serum creatine phosphokinase)"	"AD"	"123320"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04046"	"MPXPS"	"myopathy, with extrapyramidal signs (MPXPS)"	"AR"	"615673"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"MICU1"	"00139"
"MICU1"	"04046"


## Individuals ## Do not remove or alter this header ##
## Count = 58
"{{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}}"
"00001239"	""	""	""	"1"	""	"00006"	""	""	""	""	"Netherlands"	""	"1"	""	""	""	""
"00054685"	""	""	""	"1"	""	"01399"	"{PMID:O\'Grady 2016:27159402}"	"2-generation family, unaffected heterozygous carrier parents"	"M"	""	"Australia"	">08y"	"0"	""	""	""	"Pat103"
"00064044"	""	""	""	"2"	""	"00538"	"{PMID:Logan 2014:24336167}"	"9-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents, sister-1"	"F"	"yes"	"Netherlands"	">23y"	"0"	""	""	""	""
"00064045"	""	""	""	"1"	""	"00538"	"{PMID:Logan 2014:24336167}"	"9-generation family, sister-2"	"F"	"yes"	"Netherlands"	">7y"	"0"	""	""	""	""
"00064046"	""	""	""	"2"	""	"00538"	"{PMID:Logan 2014:24336167}"	"3-generation family, brother-1"	"M"	"no"	"Netherlands"	">8y"	"0"	""	""	""	""
"00064047"	""	""	""	"1"	""	"00538"	"{PMID:Logan 2014:24336167}"	"3-generation family, brother-2"	"M"	"no"	"Netherlands"	">3y1m"	"0"	""	""	""	""
"00064048"	""	""	""	"5"	""	"00006"	"{PMID:Logan 2014:24336167}"	"5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 2a"	"M"	"yes"	"United Kingdom (Great Britain)"	">5y"	"0"	""	""	"Pakistani"	""
"00064049"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"5-generation family, patient 2b"	"F"	"yes"	"United Kingdom (Great Britain)"	">22m"	"0"	""	""	"Pakistani"	""
"00064050"	""	""	""	"5"	""	"00006"	"{PMID:Logan 2014:24336167}"	"5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 3a"	"M"	"yes"	"United Kingdom (Great Britain)"	">5y10m"	"0"	""	""	"Pakistani"	""
"00064051"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"5-generation family, patient 3b"	"F"	"yes"	"United Kingdom (Great Britain)"	">3y2m"	"0"	""	""	"Pakistani"	""
"00064052"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"5-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"United Kingdom (Great Britain)"	">10y8m"	"0"	""	""	"Pakistani"	""
"00064053"	""	""	""	"2"	""	"00006"	"{PMID:Logan 2014:24336167}"	"4-generation family, 2 affecteds, unaffected heterozygous carrier parents, atient 5"	"M"	"yes"	"United Kingdom (Great Britain)"	">13y7m"	"0"	""	""	"Pakistani"	""
"00064054"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"4-generation family, patient 6"	"F"	"yes"	"United Kingdom (Great Britain)"	">10y8m"	"0"	""	""	"Pakistani"	""
"00064055"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"unaffected heterozygous carrier parents"	"F"	"no"	"United Kingdom (Great Britain)"	">6y"	"0"	""	""	"Pakistani"	""
"00064056"	""	""	""	"2"	""	"00006"	"{PMID:Logan 2014:24336167}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents,patient 8a"	"F"	"no"	"United Kingdom (Great Britain)"	">27y"	"0"	""	""	"Pakistani"	""
"00064057"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"2-generation family, patient 8b"	"F"	"no"	"United Kingdom (Great Britain)"	">17y"	"0"	""	""	"Pakistani"	""
"00064058"	""	""	""	"1"	""	"00006"	"{PMID:Logan 2014:24336167}"	"unaffected heterozygous carrier parents"	"M"	"no"	"United Kingdom (Great Britain)"	">13y7m"	"0"	""	""	"Pakistani"	""
"00307956"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:28940097}"	"familial"	"M"	""	""	""	"0"	""	""	""	"15DG0299"
"00411256"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"198231"
"00445138"	""	""	""	"1"	""	"04620"	""	""	"M"	"no"	"India"	""	""	""	""	""	""
"00466475"	""	""	""	"1"	""	"00006"	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam1PatIV1"
"00466476"	""	""	""	"1"	""	"00006"	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	"5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"Fam2PatV2"
"00466477"	""	""	""	"1"	""	"00006"	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam3PatIV1"
"00466478"	""	""	""	"2"	""	"00006"	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	"3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam4PatII5"
"00466479"	""	""	""	"2"	""	"00006"	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	"5-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Iran"	""	"0"	""	""	"Arab"	"Fam5PatV3/4"
"00466480"	""	""	""	"1"	""	"00006"	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam6PatIII1"
"00466481"	""	""	""	"2"	""	"00006"	"{PMID:Mojbafan 2020:32293312}, {DOI:Mojbafan 2020:10.1186/s12881-020-01016-y}"	"5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"FamPatV1"
"00466482"	""	""	"00466481"	"1"	""	"00006"	"{PMID:Mojbafan 2020:32293312}, {DOI:Mojbafan 2020:10.1186/s12881-020-01016-y}"	"younger sister"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"FamPatV2"
"00466483"	""	""	""	"1"	""	"00006"	"{PMID:Wilton 2020:32395406}, {DOI:Wilton 2020:10.1002/jmd2.12114}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"patient"
"00466484"	""	""	""	"3"	""	"00006"	"{PMID:Bitarafan 2021:33969448}, {DOI: Bitarafan 2021: 10.1186/s40348-021-00116-w}"	"6-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"family"
"00466485"	""	""	""	"1"	""	"00006"	"{PMID:Sharova 2022:36425804}, {DOI:Sharova 2022:10.3389/fneur.2022.1008937}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"Russia"	""	"0"	""	""	""	"patient"
"00466486"	""	""	""	"1"	""	"00006"	"{PMID:Finsterer 2024:38380193}, {DOI:Finsterer 2024:10.7759/cureus.52672}"	"2-generation family, 1 affected, unaffected heterozygous carrier parentsmyop"	"F"	"yes"	"Austria"	""	"0"	""	""	""	"patient"
"00466487"	""	""	""	"1"	""	"00006"	"{PMID:Kohlschmidt 2021:33428302}, {DOI:Kohlschmidt 2021:10.1111/nan.12694}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat1"
"00466488"	""	""	""	"1"	""	"00006"	"{PMID:Kohlschmidt 2021:33428302}, {DOI:Kohlschmidt 2021:10.1111/nan.12694}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	"no"	"Germany"	""	"0"	""	""	""	"Pat2"
"00466489"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam1"
"00466490"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected parents"	"F"	"no"	"Qatar"	""	"0"	""	""	"Arab;Middle-east"	"Fam2"
"00466491"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam3"
"00466492"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam4"
"00466493"	""	""	""	"3"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 3 affected brothers, unaffected heterozygous carrier parents"	"M"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam5"
"00466494"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected parents"	"F"	"no"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam6"
"00466495"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam7"
"00466496"	""	""	""	"3"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents"	"M"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam8"
"00466497"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam9"
"00466498"	""	""	""	"1"	""	"00006"	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	""	""	"0"	""	""	"Arab;Middle-east"	"Fam10"
"00466499"	""	""	""	"4"	""	"00006"	"{PMID:Lewis-Smith 2016:27123478}, {DOI:Lewis-Smith 2016:10.1212/NXG.0000000000000059}"	"4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Fam"
"00466501"	""	""	""	"2"	""	"00006"	"{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}"	"family, 2 affected brothers"	"M"	""	"United States"	""	"0"	""	""	""	"family"
"00466507"	""	""	""	"1"	""	"00006"	"{PMID:Alfares 2017:28454995}, {DOI:Alfares 2017:10.1016/j.ymgme.2017.04.002}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"Pat84"
"00466508"	""	""	""	"1"	""	"00006"	"{PMID:Fevga 2022:36115200}, {DOI:Fevga 2022:10.1016/j.parkreldis.2022.08.031}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"India"	""	"0"	""	""	""	"family"
"00466509"	""	""	""	"2"	""	"00006"	"{PMID:Ten Dam 2021:33386810}, {DOI:Ten Dam 2021:10.3233/JND-200585}"	"2-generation family, 2 affected, unaffected heterozygous carrier parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat12/13"
"00466510"	""	""	""	"1"	""	"00006"	"{PMID:Klee 2021:33144682}, {DOI:Klee 2021:10.1038/s41436-020-01005-9}"	"1/1101 undiagnosed cases"	""	""	"United States"	""	"0"	""	""	""	"patient"
"00466511"	""	""	""	"1"	""	"00006"	"{PMID:Cherot 2017:28708303}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"Pat22"
"00466512"	""	""	""	"1"	""	"00006"	"{PMID:Mukherjee 2023:37034047}, {PMID:Mukherjee 2023:38022436}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"India"	""	"0"	""	""	""	"patient"
"00466513"	""	""	""	"1"	""	"00006"	"{PMID:Alkelai 2023:36645932}"	""	""	""	"Israel"	""	"0"	""	""	"jew"	"patient"
"00466868"	""	""	""	"2"	""	"00006"	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Fam1PatII1"
"00466869"	""	""	""	"1"	""	"00006"	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	"brother"	"M"	""	"China"	""	"0"	""	""	""	"Fam1PatII2"
"00466870"	""	""	""	"2"	""	"00006"	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"Fam2PatII1"
"00466872"	""	""	"00466870"	"1"	""	"00006"	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	"sister"	"F"	""	"China"	""	"0"	""	""	""	"Fam2PatII2"
"00469110"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 58
"{{individualid}}"	"{{diseaseid}}"
"00001239"	"00141"
"00054685"	"00360"
"00064044"	"04046"
"00064045"	"04046"
"00064046"	"04046"
"00064047"	"04046"
"00064048"	"04046"
"00064049"	"04046"
"00064050"	"04046"
"00064051"	"04046"
"00064052"	"04046"
"00064053"	"04046"
"00064054"	"04046"
"00064055"	"04046"
"00064056"	"04046"
"00064057"	"04046"
"00064058"	"04046"
"00307956"	"00139"
"00411256"	"04046"
"00445138"	"04046"
"00466475"	"05618"
"00466476"	"05618"
"00466477"	"05618"
"00466478"	"05618"
"00466479"	"05618"
"00466480"	"05618"
"00466481"	"01273"
"00466482"	"01273"
"00466483"	"00198"
"00466484"	"00244"
"00466485"	"00244"
"00466486"	"00244"
"00466487"	"00244"
"00466488"	"00244"
"00466489"	"05618"
"00466490"	"05618"
"00466491"	"05618"
"00466492"	"05618"
"00466493"	"05618"
"00466494"	"05618"
"00466495"	"05618"
"00466496"	"05618"
"00466497"	"05618"
"00466498"	"05618"
"00466499"	"00198"
"00466501"	"00198"
"00466507"	"00244"
"00466508"	"00108"
"00466509"	"05126"
"00466510"	"00198"
"00466511"	"05611"
"00466512"	"00244"
"00466513"	"00212"
"00466868"	"00244"
"00466869"	"00244"
"00466870"	"00244"
"00466872"	"00244"
"00469110"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00141, 00198, 00212, 00244, 00360, 01273, 04046, 05126, 05611, 05618
## Count = 58
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Development/Motor_skills}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000000654"	"00141"	"00001239"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000041364"	"00360"	"00054685"	"01399"	"Familial, autosomal recessive"	"8y"	"gross motor delay, walked age 2.5y, proximal weakness, choreiform movements, moderate intellectual disability, MRI - T2 hyperintensities; CPK elevated (600-3100); histology non-specific"	"1y"	""	""	""	""	""	""	""	""	""	""	""
"0000050559"	"04046"	"00064044"	"00538"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; ptosis; EMG?; nerve conduction velocity?; MRI brain?; CPK 1000-8900 IU/L; severe learning difficulties"	"8y"	"climbs stair with support"	""	""	""	""	""	""	""	""	""	""
"0000050560"	"04046"	"00064045"	"00538"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant; no chorea; dystonia; no paroxysmal ataxia; no short stature; skin vitiligo; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 5000 IU/L; severe learning difficulties"	"6y"	"climbs stair with support"	""	"motor delay; speech delay"	""	""	""	""	""	""	""	""
"0000050561"	"04046"	"00064046"	"00538"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant with support; no chorea; no dystonia; paroxysmal ataxia; short stature; skin atopic dermatitis; no microcephaly; astigmatism, hypermetropia; EMG?; nerve conduction velocity?; MRI brain linear calcification frontal lobe; CPK 800-9000 IU/L; mild learning difficulties"	"28m"	"runs"	""	"proximal weakness"	""	""	""	""	""	""	""	""
"0000050562"	"04046"	"00064047"	"00538"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; paroxysmal ataxia; no short stature; normal skin; no microcephaly; hypermetropia; EMG?; nerve conduction velocity?; MRI brain normal; CPK 2000-4000 IU/L; mild learning difficulties"	"11m"	"climbs stair with support"	""	"motor delay; proximal weakness"	""	""	""	""	""	""	""	""
"0000050563"	"04046"	"00064048"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently running; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2500 IU/L; mild learning difficulties"	"22m"	"climbs stair with support"	""	"motor delay"	""	""	""	""	""	""	""	""
"0000050564"	"04046"	"00064049"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2800 IU/L; no learning difficulties"	"18m"	"ambulant"	""	"motor delay"	""	""	""	""	""	""	""	""
"0000050565"	"04046"	"00064050"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently running; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain?; CPK 1300 IU/L; mild learning difficulties"	"18m"	"runs"	""	"motor delay; speech delay; proximal weakness"	""	""	""	""	""	""	""	""
"0000050566"	"04046"	"00064051"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK -; severe learning difficulties"	"2y"	"climbs stair with support"	""	"motor delay; proximal weakness"	""	""	""	""	""	""	""	""
"0000050567"	"04046"	"00064052"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin atopic dermatitis; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 300-4000 IU/L; severe learning difficulties"	"18m"	"runs"	""	"motor delay"	""	""	""	""	""	""	""	""
"0000050568"	"04046"	"00064053"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently climbing stairs with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin icthyosis; no microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 6000-12500 IU/L; severe learning difficulties"	"3y"	"runs"	""	"motor delay; speech delay"	""	""	""	""	""	""	""	""
"0000050569"	"04046"	"00064054"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; dystonia; no paroxysmal ataxia; no short stature; skin icthyosis, atopic dermatitis; microcephaly; optic atrophy; EMG myopathic; normal nerve conduction velocity; MRI brain normal; CPK 4800 IU/L; severe learning difficulties"	"3y"	"runs"	""	"motor delay"	""	""	""	""	""	""	""	""
"0000050570"	"04046"	"00064055"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently climbing stairs with support; chorea; dystonia; no paroxysmal ataxia; short stature; skin icthyosis; microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2900-4200 IU/L; severe learning difficulties"	"2y"	"runs"	""	"motor delay; speech delay; proximal weakness"	""	""	""	""	""	""	""	""
"0000050571"	"04046"	"00064056"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant; chorea; no dystonia; paroxysmal ataxia; short stature; normal skin; no microcephaly; nystagmus; EMG myopathic; nerve conduction velocity reduced; MRI brain normal; CPK 8000 IU/L; severe learning difficulties"	"3y"	"climbs stair with support"	""	"motor delay; speech delay"	""	""	""	""	""	""	""	""
"0000050572"	"04046"	"00064057"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant with support; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG myopathic; nerve conduction velocity increased; MRI brain small cerebellum; CPK 1600 IU/L; mild learning difficulties"	"2y"	"runs"	""	"motor delay; speech delay"	""	""	""	""	""	""	""	""
"0000050573"	"04046"	"00064058"	"00006"	"Familial, autosomal recessive"	""	"muscle weakness, proximal, early onset; currently ambulant; chorea; dystonia; no paroxysmal ataxia; short stature; normal skin; no microcephaly; ptosis; EMG normal; normal nerve conduction velocity; MRI brain signal change in globus pallidus; CPK 5000-8000 IU/L; severe learning difficulties"	"5y"	"runs"	""	"motor delay; speech delay; proximal weakness"	""	""	""	""	""	""	""	""
"0000233379"	"00139"	"00307956"	"00006"	"Familial, autosomal recessive"	"17y"	"see paper; ..., Intellectual disability, Seizures; Attention deficit hyperactivity disorder"	""	""	""	""	""	""	""	""	""	""	"intellectual diability"	""
"0000303332"	"04046"	"00411256"	"01164"	"Unknown"	"13y"	"Muscular dystrophy, Migraine, Attention deficit hyperactivity disorder, Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Reduced muscle fiber alpha dystroglycan, Left anterior fascicular block"	""	""	""	""	""	""	""	""	""	""	""	""
"0000334391"	"04046"	"00445138"	"04620"	"Familial, autosomal recessive"	"23y"	"Proximal muscle weakness (HP:0003701)\r\nMyalgia (HP:0003326)\r\nScapular winging (HP:0003691)\r\nAbnormal lumbar spine morphology (HP:0100712)\r\nWaddling gait HP:0002515"	"13y"	""	"23y"	""	""	""	""	""	""	"Myopathy with extrapyramidal signs"	""	""
"0000351838"	"05618"	"00466475"	"00006"	"Familial, autosomal recessive"	"6y"	"see paper; ..., neck flaccidity, persistent proximal weakness, developmental dela; 22m-walk, speach two word; left esotropia, elevated CK level (3486 U/L), difficulty climbing stairs, migraines with aura, ADHD, social skills deficits"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neuromuscular disorder"	""
"0000351839"	"05618"	"00466476"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..., feeding difficulties, delayed developmen; walk on toes, right leg weakening progressively, CK level elevated (2,070,070 U/L); lower limbs weakness one side, tremors, clinodactyly, episodes of stiffness, autism-ADHD symptoms"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neuromuscular disorder"	""
"0000351840"	"05618"	"00466477"	"00006"	"Familial, autosomal recessive"	"13y"	"see paper; ..., delayed motor-speech development; 11m-seizure; markedly elevated CK (above 5000 U/L), EMG primary myopathy, minimal biopsy changes, MRI normal, bilateral moderate visual impairment"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neuromuscular disorder"	""
"0000351841"	"05618"	"00466478"	"00006"	"Familial, autosomal recessive"	"59y"	"see paper; ..., late-onset myopathy; 29y-progressive proximal weakness, ataxia, wasting, migraines, diabetes, transient ischemic attacks, dysphagia, dementia; elevated CK, elevated LDH, cerebral atrophy, sensory axonal polyneuropathy, wheelchair-bound"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neuromuscular disorder"	""
"0000351842"	"05618"	"00466479"	"00006"	"Familial, autosomal recessive"	"17y"	"see paper; ..., 2y-regressed; developed valproate-controlled drop seizure; intellectually disability, minimal speech"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neuromuscular disorder"	""
"0000351843"	"05618"	"00466480"	"00006"	"Familial, autosomal recessive"	"15y"	"see paper; ..., 2y-walk, delayed milestone; short stature, hypertrophic muscles, proximal weakness, elevated CK; EMG/biopsy confirm slowly progressive mitochondrial myopathy, hypertrophic type-1 fibers, degeneration"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neuromuscular disorder"	""
"0000351844"	"01273"	"00466481"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; 5y- incidental raised CK (5175 U/L); 5y-calf hypertrophy, ambulant, no positive Gowers sign; poor weight gain; ECG heart right side enlargement, mild pericardial infusion; 10y-extrapyramidal signs; delayed speech"	"05y"	""	""	""	""	""	""	""	""	"MPXPS"	"incidental elevated CK"	""
"0000351845"	"01273"	"00466482"	"00006"	"Familial, autosomal recessive"	"02y"	"see paper; ..., elevated level CK (3442 U/L), AST (136 U/L), ALT (73 U/L), LDH (799 U/L); EMG/NCV normal; speech delay"	""	""	""	""	""	""	""	""	""	"MPXPS"	"raised CK"	""
"0000351846"	"00198"	"00466483"	"00006"	"Familial, autosomal recessive"	"12y"	"see paper; ..., 9m-sit; 3y-delay fine motor control; MRI brain multiple congenital malformations, anterior perisylvian polymicrogyria, dysmorphic basal ganglia, cerebellar dysplasia, white matter abnormalities; 12y-prominently hyperreflexic, clonus left side; no microcephaly; no short stature; no poor growth; muscle weakness; hyperopia, amblyopia; extrapyramidal signs; no neuropathy; abnormal gait; seizures; intellectual disability, learning difficulties; developmental delay; speech delay; facial dysmorphisms; no hepatomegaly; elevated CK level; encephalopathy"	""	""	""	""	""	""	""	""	""	"MPXPS"	"developmental delay"	""
"0000351847"	"00244"	"00466484"	"00006"	"Familial, autosomal recessive"	"44y"	"see paper; ..., learning disability, muscle weakness, easy fatigability, reduced tendon reflexes, ataxia, gait disturbance, elevated hepatic transaminases, elevated serum creatine kinase, elevated lactate dehydrogenase"	""	""	""	""	""	""	""	""	""	"MPXPS"	"learning disability, muscle weakness"	""
"0000351848"	"00244"	"00466485"	"00006"	"Familial, autosomal recessive"	"03y06m"	"see paper; ..., elevated plasma CK level, 3 acute episodes muscular weakness; lumbar hyperlordosis, winged scapula; reduced tendon reflexes; no  ataxia, no extrapyramida; MRI brain normal"	""	""	""	""	""	""	""	""	""	"MPXPS"	"elevated plasma CK level"	""
"0000351849"	"00244"	"00466486"	"00006"	"Familial, autosomal recessive"	"23y"	"see paper; ..., developmental delay, intellectual disability, ataxia, dysmorphia (dolichocephaly, arachnodactyly, clinodactyly, hypertelorism, wide nasal bridge), myopathy (ptosis, double vision, strabismus, distal limb weakness, diffuse wasting, hypotonia), hyperextensible joints, hyperkyphosis"	""	""	""	""	""	""	""	""	""	"MPXPS"	"myopathy"	""
"0000351850"	"00244"	"00466487"	"00006"	"Familial, autosomal recessive"	"05y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351851"	"00244"	"00466488"	"00006"	"Familial, autosomal recessive"	"05y"	"see paper; ..., 1y10m-acute ataxia, spontaneously regressed within 2d; elevated CK value (10,000 U/l); 2y8m-bilateral enlarged calf muscles, normal tendon reflexes, grossly normal muscle strength, no Gower\'s sign, normal ability to climb stairs"	""	""	""	""	""	""	""	""	""	""	"ataxia"	""
"0000351852"	"05618"	"00466489"	"00006"	"Familial, autosomal recessive"	"15y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height 5th %ile; weight 5th %ile; OFC 50th %ile; hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; muscular cramps; proximal myopathy"	"9y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351853"	"05618"	"00466490"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height 5th %ile; weight 25th %ile; OFC 50th %ile; hypotonia; hepatomegaly hepatosplenomegaly; abnormal gait; no frequent falls; ventricular septal defect; no learning disability; 10y-extrapyrimidal signs; dysmorphism; MRI abnormal, white matter changes; hemolytic anemia, low IgG, B, T, NK cells; massive hepatosplenomegaly"	"2y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351854"	"05618"	"00466491"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height <5th %ile; OFC 75th %ile; no hypotonia; hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; easy fatiguability, muscle pain with walking long distances; increased liver periportal echogenicity on ultrasound abdomen"	"10y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351855"	"05618"	"00466492"	"00006"	"Familial, autosomal recessive"	"13y"	"see paper; ..., developmental delay; speech delay; normal growth; height 50th %ile; weight 50th %ile; no hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; hyperactivity"	"11y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351856"	"05618"	"00466493"	"00006"	"Familial, autosomal recessive"	"24y-26y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; no hypotonia; normal gait; frequent falls; no ventricular septal defect; learning disability; 25y-extrapyrimidal signs; calf muscle hypertrophy; seizures; muscular cramps; tremors; postural dystonia; three similarly affected brothers"	"21y-23y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351857"	"05618"	"00466494"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height <5th %ile; weight <5th %ile; no hypotonia; no hepatomegaly; ventricular septal defect; no extrapyrimidal signs; dysmorphism (short neck, doughy skin, lax joints, down turned lower lip, tented upper lip, mild syndactly); ultrasound coarse liver"	"2y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351858"	"05618"	"00466495"	"00006"	"Familial, autosomal recessive"	"4y"	"see paper; ..., developmental delay; elevated liver transaminases; elevated CK level; normal growth; height 25th %ile; weight 505th %ile; hypotonia; abnormal gait; frequent falls; no ventricular septal defect; no extrapyrimidal signs"	"4y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351859"	"05618"	"00466496"	"00006"	"Familial, autosomal recessive"	"06y-14y"	"see paper; ..., developmental delay; elevated liver transaminases; elevated CK level; normal growth; height 25–50th %ile; weight 25–50th %ile; 25–50th %ile; hypotonia; abnormal gait; no ventricular septal defect; learning disability; no extrapyrimidal signs; positive Gower sign; two similarly affected brothers/one similarly affected sister (2y-deceased)"	"06y-14y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351860"	"05618"	"00466497"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; normal growth; height 50th %ile; weight 50th %ile; OFC 50th %ile; no hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; seizures; hyperactivity"	"10y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351861"	"05618"	"00466498"	"00006"	"Familial, autosomal recessive"	"3y"	"see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; normal growth; height 10th %ile; weight 10th %ile; OFC 25th %ile; hypotonia; no hepatomegaly; no ventricular septal defect; learning disability; 4y-extrapyrimidal signs; myopathic face; choreoathetoid movement hands/legs; orofacial dyskinesia"	"3y"	""	""	""	""	""	""	""	""	"MPXPS"	"muscle weakness"	""
"0000351862"	"00198"	"00466499"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., childhood fatigue, lethargy"	""	""	""	""	""	""	""	""	""	"MPXPS"	"fatigue, lethargy"	""
"0000351864"	"00198"	"00466501"	"00006"	"Familial, autosomal recessive"	"02y-04y"	"see paper; ..., global developmental delay, hypotonia; motor delay, extrapyramidal abnormal movements; elevated creatine kinase"	""	""	""	""	""	""	""	""	""	"MPXPS"	"global developmental delay, hypotonia"	""
"0000351870"	"00244"	"00466507"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., myopathy with extrapyramidal signs, skeletal abnormalities, elevated creatine kinase"	""	""	""	""	""	""	""	""	""	"MPXPS"	"myopathy"	""
"0000351871"	"00108"	"00466508"	"00006"	"Familial, autosomal recessive"	"42y"	"see paper; ..., prominent segmental dystonia, proximal weakness, facial dysmorphisms; sensory neuropathy; achexia; cleft palate; hypothyroidism; left radioulnar synostosis; seizures;  intellectual disability (IQ55); hypothyroidism"	""	""	""	""	""	""	""	""	""	"MPXPS"	"segmental dystonia"	""
"0000351872"	"05126"	"00466509"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., 5y-elevated serum CK (5390 IU/L); muscle biopsy severe dystrophic pattern; decreased exercise tolerance in early childhood, proximal muscle weakness, able to walk unaided; learning disabilities; ataxia"	""	""	""	""	""	""	""	""	""	"MPXPS"	"limb-girdle muscular dystrophy"	""
"0000351873"	"00198"	"00466510"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"MPXPS"	""	""
"0000351874"	"05611"	"00466511"	"00006"	"Familial, autosomal recessive"	""	"yopathy with extrapyramidal signs"	""	""	""	""	""	""	""	""	""	"MPXPS"	"neurodevelopmental disorder"	""
"0000351875"	"00244"	"00466512"	"00006"	"Familial, autosomal recessive"	"17y"	"see paper; ..., proximal myopathy, calf muscle hypertrophy, skeletal deformities, choreiform movements upper extremities; extrapyramidal signs"	""	""	""	""	""	""	""	""	""	"MPXPS"	"myopathy"	""
"0000351876"	"00212"	"00466513"	"00006"	"Unknown"	""	"see paper; ..., neurological condition; childhood-onset schizophrenia"	""	""	""	""	""	""	""	""	""	"MPXPS"	"schizophrenia"	""
"0000352232"	"00244"	"00466868"	"00006"	"Familial, autosomal recessive"	"08y"	"see paper; ..., difficulty walking, walking tiptoes, difficulty squatting/standing, poor balance, inability to hop on one foot; 6y-attention deficit hyperactivity disorder, learning difficulties"	""	""	""	""	""	""	""	""	""	"MPXPS"	"myopathy"	""
"0000352233"	"00244"	"00466869"	"00006"	"Familial, autosomal recessive"	"04y"	"see paper; ..., normal motor development, normal intellectual development, no clinical manifestations, normal neurological examination, normal liver function, normal muscle enzyme profiles"	""	""	""	""	""	""	""	""	""	""	"asymptomatic"	""
"0000352234"	"00244"	"00466870"	"00006"	"Familial, autosomal recessive"	"03y04m"	"see paper; ..., 2y-flat feet; 3y-occasional retrosternal pain, hyperactivity, poor concentration, normal motor function"	""	""	""	""	""	""	""	""	""	"MPXPS"	"myopathy"	""
"0000352236"	"00244"	"00466872"	"00006"	"Familial, autosomal recessive"	"01y06m"	"see paper; ..., normal intellectual development, normal motor development, no clinical manifestations, normal neurological examination, normal liver function, normal muscle enzyme profiles"	""	""	""	""	""	""	""	""	""	""	"asymptomatic"	""
"0000354263"	"00198"	"00469110"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""


## Screenings ## Do not remove or alter this header ##
## Count = 58
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001006"	"00001239"	"1"	"00006"	"00006"	"2013-06-10 21:10:48"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000054634"	"00054685"	"1"	"01399"	"01399"	"2015-11-08 12:06:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000064176"	"00064044"	"1"	"00538"	"00538"	"2013-03-01 15:49:21"	"00006"	"2013-06-06 13:59:15"	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064177"	"00064045"	"1"	"00538"	"00538"	"2013-05-21 21:46:20"	"00006"	"2013-06-06 13:59:56"	"SEQ"	"DNA"	""	""
"0000064178"	"00064046"	"1"	"00538"	"00538"	"2013-05-21 21:46:21"	"00006"	"2013-06-05 10:55:44"	"RT-PCR;SEQ;SEQ-NG-I"	"DNA;RNA"	""	""
"0000064179"	"00064047"	"1"	"00538"	"00538"	"2013-05-21 21:46:21"	""	""	"SEQ"	"DNA"	""	""
"0000064180"	"00064048"	"1"	"00006"	"00006"	"2013-12-22 16:17:13"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064181"	"00064049"	"1"	"00006"	"00006"	"2013-12-22 16:17:13"	""	""	"SEQ"	"DNA"	""	""
"0000064182"	"00064050"	"1"	"00006"	"00006"	"2013-12-22 16:17:13"	""	""	"SEQ"	"DNA"	""	""
"0000064183"	"00064051"	"1"	"00006"	"00006"	"2013-12-22 16:17:13"	""	""	"SEQ"	"DNA"	""	""
"0000064184"	"00064052"	"1"	"00006"	"00006"	"2013-12-22 16:17:12"	""	""	"SEQ"	"DNA"	""	""
"0000064185"	"00064053"	"1"	"00006"	"00006"	"2013-12-22 16:17:12"	""	""	"SEQ"	"DNA"	""	""
"0000064186"	"00064054"	"1"	"00006"	"00006"	"2013-12-22 16:17:12"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000064187"	"00064055"	"1"	"00006"	"00006"	"2013-12-22 16:17:12"	""	""	"SEQ"	"DNA"	""	""
"0000064188"	"00064056"	"1"	"00006"	"00006"	"2013-12-22 16:17:12"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064189"	"00064057"	"1"	"00006"	"00006"	"2013-12-22 16:17:12"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064190"	"00064058"	"1"	"00006"	"00006"	"2013-12-22 16:17:13"	""	""	"SEQ"	"DNA"	""	""
"0000309100"	"00307956"	"1"	"00006"	"00006"	"2020-08-23 13:31:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical WES"
"0000412521"	"00411256"	"1"	"01164"	"01164"	"2022-06-08 16:47:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000446709"	"00445138"	"1"	"04620"	"04620"	"2024-01-04 11:44:06"	""	""	"SEQ-NG"	"DNA"	""	""
"0000468138"	"00466475"	"1"	"00006"	"00006"	"2025-09-08 13:09:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468139"	"00466476"	"1"	"00006"	"00006"	"2025-09-08 13:09:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468140"	"00466477"	"1"	"00006"	"00006"	"2025-09-08 13:09:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468141"	"00466478"	"1"	"00006"	"00006"	"2025-09-08 13:09:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468142"	"00466479"	"1"	"00006"	"00006"	"2025-09-08 13:09:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468143"	"00466480"	"1"	"00006"	"00006"	"2025-09-08 13:09:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000468144"	"00466481"	"1"	"00006"	"00006"	"2025-09-08 13:51:28"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468145"	"00466482"	"1"	"00006"	"00006"	"2025-09-08 13:56:46"	""	""	"SEQ"	"DNA"	""	""
"0000468146"	"00466483"	"1"	"00006"	"00006"	"2025-09-08 14:09:16"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468147"	"00466484"	"1"	"00006"	"00006"	"2025-09-08 14:24:02"	""	""	"SEQ"	"DNA"	""	""
"0000468148"	"00466485"	"1"	"00006"	"00006"	"2025-09-08 14:35:20"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000468149"	"00466486"	"1"	"00006"	"00006"	"2025-09-08 14:51:17"	""	""	"SEQ"	"DNA"	""	""
"0000468150"	"00466487"	"1"	"00006"	"00006"	"2025-09-08 15:00:06"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000468151"	"00466488"	"1"	"00006"	"00006"	"2025-09-08 15:05:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000468152"	"00466489"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468153"	"00466490"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468154"	"00466491"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468155"	"00466492"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468156"	"00466493"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468157"	"00466494"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468158"	"00466495"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	"00006"	"2025-09-08 19:39:43"	"arrayCGH;SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468159"	"00466496"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468160"	"00466497"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468161"	"00466498"	"1"	"00006"	"00006"	"2025-09-08 19:30:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"cWES"
"0000468162"	"00466499"	"1"	"00006"	"00006"	"2025-09-08 19:47:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000468165"	"00466501"	"1"	"00006"	"00006"	"2025-09-08 21:01:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000468170"	"00466507"	"1"	"00006"	"00006"	"2025-09-09 10:37:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468171"	"00466508"	"1"	"00006"	"00006"	"2025-09-09 10:50:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000468172"	"00466509"	"1"	"00006"	"00006"	"2025-09-09 11:05:38"	""	""	"SEQ"	"DNA"	""	""
"0000468173"	"00466510"	"1"	"00006"	"00006"	"2025-09-09 11:21:12"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468174"	"00466511"	"1"	"00006"	"00006"	"2025-09-09 11:29:50"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468175"	"00466512"	"1"	"00006"	"00006"	"2025-09-09 11:39:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468176"	"00466513"	"1"	"00006"	"00006"	"2025-09-09 11:53:09"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468533"	"00466868"	"1"	"00006"	"00006"	"2025-09-26 12:14:38"	""	""	"SEQ"	"DNA"	""	""
"0000468534"	"00466869"	"1"	"00006"	"00006"	"2025-09-26 12:14:38"	""	""	"SEQ"	"DNA"	""	""
"0000468535"	"00466870"	"1"	"00006"	"00006"	"2025-09-26 12:14:38"	""	""	"SEQ"	"DNA"	""	""
"0000468537"	"00466872"	"1"	"00006"	"00006"	"2025-09-26 12:14:38"	""	""	"SEQ"	"DNA"	""	""
"0000470778"	"00469110"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 29
"{{screeningid}}"	"{{geneid}}"
"0000001006"	"MICU1"
"0000054634"	"MICU1"
"0000064176"	"MICU1"
"0000064177"	"MICU1"
"0000064178"	"MICU1"
"0000064179"	"MICU1"
"0000064180"	"MICU1"
"0000064181"	"MICU1"
"0000064182"	"MICU1"
"0000064183"	"MICU1"
"0000064184"	"MICU1"
"0000064185"	"MICU1"
"0000064186"	"MICU1"
"0000064187"	"MICU1"
"0000064188"	"MICU1"
"0000064189"	"MICU1"
"0000064190"	"MICU1"
"0000309100"	"MICU1"
"0000412521"	"MICU1"
"0000446709"	"MICU1"
"0000468145"	"MICU1"
"0000468147"	"MICU1"
"0000468148"	"MICU1"
"0000468149"	"MICU1"
"0000468172"	"MICU1"
"0000468533"	"MICU1"
"0000468534"	"MICU1"
"0000468535"	"MICU1"
"0000468537"	"MICU1"


## 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 = 88
"{{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}}"
"0000017962"	"3"	"70"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00006"	"MICU1_000001"	"g.74236931C>T"	""	""	""	"NM_006077.3:c.741+1G>A"	"gene implicated in limb-girdle muscular dystrophy (LGMD)"	"Germline"	""	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"likely pathogenic"	""
"0000084584"	"1"	"90"	"10"	"74311044"	"74311044"	"subst"	"8.55105E-5"	"01399"	"MICU1_000013"	"g.74311044C>G"	""	"{PMID:O\'Grady 2016:27159402}"	""	""	""	"Germline"	"yes"	"rs375664373"	"0"	""	""	"g.72551286C>G"	""	"pathogenic"	""
"0000084623"	"2"	"90"	"10"	"74326551"	"74326551"	"subst"	"4.21916E-6"	"01399"	"MICU1_000014"	"g.74326551T>C"	""	"{PMID:O\'Grady 2016:27159402}"	""	""	""	"Germline"	"yes"	"rs747832014"	"0"	""	""	"g.72566793T>C"	""	"pathogenic"	""
"0000095145"	"1"	"50"	"10"	"74326499"	"74326499"	"subst"	"0"	"00006"	"MICU1_000002"	"g.74326499C>T"	"1/12207 controls"	"{EVS:MICU1}"	""	""	"found once in 8309 European Americans, not in 3898 African Americans"	"Unknown"	"-"	""	"0"	""	""	"g.72566741C>T"	""	"VUS"	""
"0000095146"	"1"	"50"	"10"	"74326475"	"74326475"	"subst"	"4.93299E-5"	"00006"	"MICU1_000003"	"g.74326475G>C"	"2/12236 controls"	"{EVS:MICU1}"	""	""	"not in 3898 African Americans"	"Unknown"	"-"	""	"0"	""	""	"g.72566717G>C"	""	"VUS"	""
"0000095147"	"1"	"50"	"10"	"74326469"	"74326469"	"subst"	"5.34048E-5"	"00006"	"MICU1_000004"	"g.74326469T>C"	"1/12225 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	""	"0"	""	""	"g.72566711T>C"	""	"VUS"	""
"0000095148"	"1"	"50"	"10"	"74326438"	"74326438"	"subst"	"0"	"00006"	"MICU1_000005"	"g.74326438G>C"	"1/12225 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	""	"0"	""	""	"g.72566680G>C"	""	"VUS"	""
"0000095149"	"1"	"50"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00006"	"MICU1_000001"	"g.74236931C>T"	"1/10233 controls"	"{EVS:MICU1}"	""	"NM_006077.3:c.741+1G>A"	"found once in 7119 European Americans, not in 3114 African Americans"	"Unknown"	"-"	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"VUS"	""
"0000095150"	"1"	"70"	"10"	"74326390"	"74326390"	"subst"	"4.14178E-6"	"00006"	"MICU1_000007"	"g.74326390C>T"	"1/12179 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	"rs375502236"	"0"	""	""	"g.72566632C>T"	""	"likely pathogenic"	""
"0000095151"	"1"	"50"	"10"	"74326392"	"74326392"	"subst"	"0"	"00006"	"MICU1_000006"	"g.74326392T>C"	"1/12175 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	""	"0"	""	""	"g.72566634T>C"	""	"VUS"	""
"0000095152"	"1"	"50"	"10"	"74322772"	"74322772"	"subst"	"1.69122E-5"	"00006"	"MICU1_000008"	"g.74322772C>G"	"1/11925 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	""	"0"	""	""	"g.72563014C>G"	""	"VUS"	""
"0000095153"	"1"	"70"	"10"	"74311045"	"74311045"	"subst"	"3.66605E-5"	"00006"	"MICU1_000009"	"g.74311045G>A"	"1/11961 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	"rs369069489"	"0"	""	""	"g.72551287G>A"	""	"likely pathogenic"	""
"0000095154"	"1"	"70"	"10"	"74310936"	"74310936"	"subst"	"1.29878E-5"	"00006"	"MICU1_000011"	"g.74310936C>T"	"2/11780 controls"	"{EVS:MICU1}"	""	""	""	"Unknown"	"-"	"rs375775506"	"0"	""	""	"g.72551178C>T"	""	"likely pathogenic"	""
"0000095155"	"1"	"70"	"10"	"74267928"	"74267929"	"del"	"0"	"00006"	"MICU1_000010"	"g.74267928_74267929del"	"32/11324 controls"	"{EVS:MICU1}"	""	"NM_006077.3:c.644_645del"	"found 19x in European Americans, 13x in African Americans"	"Unknown"	"-"	""	"0"	""	""	"g.72508170_72508171del"	""	"likely pathogenic"	""
"0000095156"	"3"	"70"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00538"	"MICU1_000001"	"g.74236931C>T"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0002}"	""	"NM_006077.3:c.741+1G>A"	"exome sequencing; initially reported as LOVD VIP with contact request to jointly proof definite disease association"	"Germline"	"yes"	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"likely pathogenic"	""
"0000095157"	"3"	"70"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00538"	"MICU1_000001"	"g.74236931C>T"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0002}"	""	"NM_006077.3:c.741+1G>A"	"initially reported as LOVD VIP with contact request to jointly proof definite disease association"	"Germline"	"yes"	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"likely pathogenic"	""
"0000095158"	"3"	"90"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00538"	"MICU1_000001"	"g.74236931C>T"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0002}"	""	"NM_006077.3:c.741+1G>A"	"whole exome sequencing; fibroblast RNA; initially reported as LOVD VIP with contact request to jointly proof definite disease association"	"Germline"	"yes"	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"pathogenic"	""
"0000095159"	"3"	"70"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00538"	"MICU1_000001"	"g.74236931C>T"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0002}"	""	"NM_006077.3:c.741+1G>A"	"initially reported as LOVD VIP with contact request to jointly proof definite disease association"	"Germline"	"yes"	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"likely pathogenic"	""
"0000095160"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"homozygosity mapping, exome sequencing"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095161"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"homozygosity mapping"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095162"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"homozygosity mapping"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095163"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"homozygosity mapping"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095164"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"homozygosity mapping"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095165"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	""	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095166"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	""	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095167"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	""	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095168"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"exome sequencing"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095169"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	"exome sequencing"	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000095170"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Logan 2014:24336167}, {OMIM605084:0001}"	""	"NM_006077.3:c.1078-1G>C"	""	"Germline"	"yes"	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	""
"0000683563"	"3"	"90"	"10"	"74268018"	"74268018"	"subst"	"0"	"00006"	"MICU1_000022"	"g.74268018G>A"	""	"{PMID:Anazi 2017:28940097}"	""	""	"ACMG PVS1,PM2,PP1"	"Germline"	""	"rs777327250"	"0"	""	""	"g.72508260G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000852568"	"0"	"90"	"10"	"74234860"	"74234860"	"subst"	"0"	"02327"	"MICU1_000024"	"g.74234860C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72475102C>A"	""	"pathogenic"	""
"0000852569"	"0"	"50"	"10"	"74326433"	"74326433"	"subst"	"0"	"01943"	"MICU1_000025"	"g.74326433C>T"	""	""	""	"MICU1(NM_001363513.1):c.119G>A (p.G40E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72566675C>T"	""	"VUS"	""
"0000869868"	"3"	"90"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"01164"	"MICU1_000026"	"g.74236931C>T"	""	"PMID:24336167"	""	""	"ACMG PVS1, PS4_MOD, PM2_SUP, PM3_SUP"	"Germline"	"?"	"rs369915689"	"0"	""	""	"g.72477173C>T"	"VCV000101046.9"	"pathogenic (recessive)"	"ACMG"
"0000913322"	"0"	"50"	"10"	"74311075"	"74311075"	"subst"	"2.05427E-5"	"01804"	"MICU1_000027"	"g.74311075G>C"	""	""	""	"MICU1(NM_001195518.1):c.355C>G (p.(Arg119Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	"rs538329212"	"0"	""	""	"g.72551317G>C"	""	"VUS"	""
"0000955067"	"0"	"70"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"04620"	"MICU1_000012"	"g.74167796C>G"	""	""	""	""	""	"Germline"	""	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic"	"ACMG"
"0000955068"	"0"	"70"	"10"	"74293528"	"74293528"	"subst"	"0"	"04620"	"MICU1_000028"	"g.74293528A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.72533770A>T"	""	"pathogenic"	"ACMG"
"0000979131"	"0"	"50"	"10"	"74128065"	"74128065"	"subst"	"2.43718E-5"	"01804"	"MICU1_000030"	"g.74128065C>T"	""	""	""	"MICU1(NM_001195518.2):c.1319G>A (p.(Arg440Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72368307C>T"	""	"VUS"	""
"0000979132"	"0"	"50"	"10"	"74183082"	"74183082"	"subst"	"6.91141E-5"	"01804"	"MICU1_000031"	"g.74183082A>C"	""	""	""	"MICU1(NM_001195518.2):c.981T>G (p.(Phe327Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72423324A>C"	""	"VUS"	""
"0001037997"	"0"	"30"	"10"	"74135532"	"74135532"	"subst"	"0"	"01804"	"MICU1_000032"	"g.74135532C>T"	""	""	""	"MICU1(NM_001195518.2):c.1270+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72375774C>T"	""	"likely benign"	""
"0001037998"	"0"	"70"	"10"	"74235056"	"74235056"	"subst"	"0"	"01804"	"MICU1_000033"	"g.74235056C>T"	""	""	""	"MICU1(NM_001195518.2):c.736-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72475298C>T"	""	"likely pathogenic"	""
"0001047781"	"3"	"90"	"10"	"74311075"	"74311075"	"subst"	"8.21706E-6"	"00006"	"MICU1_000045"	"g.74311075G>A"	""	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	""	""	""	"Germline"	"yes"	"rs538329212"	"0"	""	""	"g.72551317G>A"	""	"pathogenic (recessive)"	""
"0001047782"	"3"	"90"	"10"	"74310936"	"74310936"	"subst"	"1.29878E-5"	"00006"	"MICU1_000011"	"g.74310936C>T"	""	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	""	""	""	"Germline"	"yes"	"rs375775506"	"0"	""	""	"g.72551178C>T"	""	"pathogenic (recessive)"	""
"0001047783"	"3"	"70"	"10"	"74293533"	"74293533"	"subst"	"4.30141E-6"	"00006"	"MICU1_000035"	"g.74293533G>A"	""	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	""	""	""	"Germline"	"yes"	"rs779752327"	"0"	""	""	"g.72533775G>A"	""	"likely pathogenic (recessive)"	""
"0001047784"	"3"	"70"	"10"	"74135585"	"74135585"	"subst"	"0"	"00006"	"MICU1_000034"	"g.74135585G>C"	""	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.72375827G>C"	""	"likely pathogenic (recessive)"	""
"0001047785"	"3"	"90"	"10"	"74268018"	"74268018"	"subst"	"0"	"00006"	"MICU1_000022"	"g.74268018G>A"	""	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	""	""	""	"Germline"	"yes"	"rs777327250"	"0"	""	""	"g.72508260G>A"	""	"pathogenic (recessive)"	""
"0001047786"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Beheshti 2025:40898676}, {DOI:Beheshti 2025:10.1111/cge.70062}"	""	""	""	"Germline"	"yes"	"rs755651388"	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047787"	"3"	"90"	"10"	"74128096"	"74128096"	"del"	"0"	"00006"	"MICU1_000036"	"g.74128096del"	""	"{PMID:Mojbafan 2020:32293312}, {DOI:Mojbafan 2020:10.1186/s12881-020-01016-y}"	""	"NM_006077.3:1295delA"	"ACMG PVS1, PM2, PM4, PP3, PP4"	"Germline"	"yes"	""	"0"	""	""	"g.72368338del"	""	"pathogenic (recessive)"	"ACMG"
"0001047789"	"3"	"90"	"10"	"74128096"	"74128096"	"del"	"0"	"00006"	"MICU1_000036"	"g.74128096del"	""	"{PMID:Mojbafan 2020:32293312}, {DOI:Mojbafan 2020:10.1186/s12881-020-01016-y}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.72368338del"	""	"pathogenic (recessive)"	""
"0001047799"	"21"	"90"	"10"	"74326390"	"74326390"	"subst"	"4.14178E-6"	"00006"	"MICU1_000007"	"g.74326390C>T"	""	"{PMID:Wilton 2020:32395406}, {DOI:Wilton 2020:10.1002/jmd2.12114}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72566632C>T"	""	"pathogenic (recessive)"	""
"0001047801"	"11"	"70"	"10"	"74311044"	"74311044"	"subst"	"8.55105E-5"	"00006"	"MICU1_000013"	"g.74311044C>G"	""	"{PMID:Wilton 2020:32395406}, {DOI:Wilton 2020:10.1002/jmd2.12114}"	""	""	""	"Germline"	""	"rs375664373"	"0"	""	""	"g.72551286C>G"	""	"likely pathogenic (recessive)"	""
"0001047808"	"3"	"90"	"10"	"74311045"	"74311045"	"subst"	"3.66605E-5"	"00006"	"MICU1_000009"	"g.74311045G>A"	""	"{PMID:Bitarafan 2021:33969448}, {DOI: Bitarafan 2021: 10.1186/s40348-021-00116-w}"	""	""	"ACMG PVS1, PM3, PS4, PM2, PP3"	"Germline"	"yes"	"rs369069489"	"0"	""	""	"g.72551287G>A"	""	"pathogenic (recessive)"	"ACMG"
"0001047821"	"3"	"90"	"10"	"74326370"	"74326571"	"del"	"0"	"00006"	"MICU1_000037"	"g.(74322822_74326370)_(74326571_74385767)del"	""	"{PMID:Sharova 2022:36425804}, {DOI:Sharova 2022:10.3389/fneur.2022.1008937}"	""	"g. (?_74326370)_(74326571_?), del ex2"	"ACMG PVS1, PM2"	"Germline"	""	""	"0"	""	""	"g.(72563064_72566612)_(72566813_72626009)del"	""	"pathogenic (recessive)"	"ACMG"
"0001047831"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Finsterer 2024:38380193}, {DOI:Finsterer 2024:10.7759/cureus.52672}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047840"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Kohlschmidt 2021:33428302}, {DOI:Kohlschmidt 2021:10.1111/nan.12694}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047847"	"21"	"70"	"10"	"74326500"	"74326500"	"subst"	"0"	"00006"	"MICU1_000039"	"g.74326500G>A"	""	"{PMID:Kohlschmidt 2021:33428302}, {DOI:Kohlschmidt 2021:10.1111/nan.12694}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72566742G>A"	""	"likely pathogenic (recessive)"	""
"0001047851"	"11"	"90"	"10"	"74326390"	"74326553"	"del"	"0"	"00006"	"MICU1_000040"	"g.(74322822_74326390)_(74326553_74385767)del"	""	"{PMID:Kohlschmidt 2021:33428302}, {DOI:Kohlschmidt 2021:10.1111/nan.12694}"	""	"del ex2"	""	"Germline"	""	""	"0"	""	""	"g.(72563064_72566632)_(72566795_72626009)del"	""	"pathogenic (recessive)"	""
"0001047867"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047868"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047869"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047870"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047871"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	"yes"	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047872"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047873"	"11"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047874"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	"yes"	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047875"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047876"	"3"	"90"	"10"	"74268012"	"74268012"	"subst"	"0"	"00006"	"MICU1_000038"	"g.74268012G>A"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	"Q185*"	""	"Germline"	""	""	"0"	""	""	"g.72508254G>A"	""	"pathogenic (recessive)"	""
"0001047877"	"21"	"70"	"10"	"74167558"	"74183198"	"dup"	"0"	"00006"	"MICU1_000041"	"g.(74135631_74167558)_(74183198_74234857)dup"	""	"{PMID:Musa 2019:29721912}, {DOI:Musa 2019:10.1007/8904_2018_107}"	""	""	""	"Germline"	""	""	"0"	""	"(74167558_74183198)x3 mat, dup ex9-10"	"g.(72375873_72407800)_(72423440_72475099)dup"	""	"likely pathogenic (recessive)"	""
"0001047878"	"3"	"90"	"10"	"74385085"	"74387860"	"del"	"0"	"00006"	"MICU1_000042"	"g.74385085_74387860del"	""	"{PMID:Lewis-Smith 2016:27123478}, {DOI:Lewis-Smith 2016:10.1212/NXG.0000000000000059}"	""	"del ex1"	"2755bp deletion"	"Germline"	"yes"	""	"0"	""	""	"g.72625327_72628102del"	""	"pathogenic (recessive)"	""
"0001047882"	"11"	"90"	"10"	"74326390"	"74326390"	"subst"	"4.14178E-6"	"00006"	"MICU1_000007"	"g.74326390C>T"	""	"{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.72566632C>T"	""	"pathogenic (recessive)"	""
"0001047883"	"21"	"90"	"10"	"74311044"	"74311044"	"subst"	"8.55105E-5"	"00006"	"MICU1_000013"	"g.74311044C>G"	""	"{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.72551286C>G"	""	"pathogenic (recessive)"	""
"0001047888"	"3"	"90"	"10"	"74268018"	"74268018"	"subst"	"0"	"00006"	"MICU1_000022"	"g.74268018G>A"	""	"{PMID:Alfares 2017:28454995}, {DOI:Alfares 2017:10.1016/j.ymgme.2017.04.002}"	""	""	""	"Germline"	""	"rs777327250"	"0"	""	""	"g.72508260G>A"	""	"pathogenic (recessive)"	""
"0001047889"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Fevga 2022:36115200}, {DOI:Fevga 2022:10.1016/j.parkreldis.2022.08.031}"	""	"NM_006077:c.1078-1G>C"	""	"Germline"	""	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic (recessive)"	""
"0001047892"	"3"	"90"	"10"	"74236931"	"74236931"	"subst"	"5.68287E-5"	"00006"	"MICU1_000001"	"g.74236931C>T"	""	"{PMID:Ten Dam 2021:33386810}, {DOI:Ten Dam 2021:10.3233/JND-200585}"	""	"NM_006077.3:c.741 + 1G>A"	""	"Germline"	"yes"	"rs369915689"	"0"	""	""	"g.72477173C>T"	""	"pathogenic (recessive)"	""
"0001047893"	"21"	"90"	"10"	"74326390"	"74326390"	"subst"	"4.14178E-6"	"00006"	"MICU1_000007"	"g.74326390C>T"	""	"{PMID:Klee 2021:33144682}, {DOI:Klee 2021:10.1038/s41436-020-01005-9}"	""	""	""	"Germline"	""	"rs375502236"	"0"	""	""	"g.72566632C>T"	""	"pathogenic (recessive)"	""
"0001047894"	"11"	"90"	"10"	"74311044"	"74311044"	"subst"	"8.55105E-5"	"00006"	"MICU1_000013"	"g.74311044C>G"	""	"{PMID:Klee 2021:33144682}, {DOI:Klee 2021:10.1038/s41436-020-01005-9}"	""	""	""	"Germline"	""	"rs375664373"	"0"	""	""	"g.72551286C>G"	""	"pathogenic (recessive)"	""
"0001047895"	"21"	"90"	"10"	"74183021"	"74183021"	"subst"	"0"	"00006"	"MICU1_000043"	"g.74183021G>A"	""	"{PMID:Cherot 2017:28708303}"	""	"NM_006077.3:c.1048C>T"	""	"Germline"	""	"rs1135401814"	"0"	""	""	"g.72423263G>A"	""	"pathogenic (recessive)"	""
"0001047896"	"11"	"90"	"10"	"74326513"	"74326513"	"del"	"0"	"00006"	"MICU1_000044"	"g.74326513del"	""	"{PMID:Cherot 2017:28708303}"	""	""	""	"Germline"	""	"rs749124658"	"0"	""	""	"g.72566755del"	""	"pathogenic (recessive)"	""
"0001047897"	"3"	"90"	"10"	"74167796"	"74167796"	"subst"	"5.31054E-5"	"00006"	"MICU1_000012"	"g.74167796C>G"	""	"{PMID:Mukherjee 2023:37034047}, {PMID:Mukherjee 2023:38022436}"	""	""	""	"Germline"	""	"rs754639936"	"0"	""	""	"g.72408038C>G"	""	"pathogenic (recessive)"	""
"0001047898"	"3"	"90"	"10"	"74268018"	"74268018"	"subst"	"0"	"00006"	"MICU1_000022"	"g.74268018G>A"	""	"{PMID:Alkelai 2023:36645932}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72508260G>A"	""	"pathogenic (recessive)"	""
"0001048405"	"11"	"90"	"10"	"74326396"	"74326396"	"subst"	"0"	"00006"	"MICU1_000046"	"g.74326396C>T"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1,  PM2_Supporting, MP3"	"Germline"	"yes"	""	"0"	""	""	"g.72566638C>T"	""	"pathogenic (recessive)"	"ACMG"
"0001048406"	"21"	"70"	"10"	"74322748"	"74322748"	"subst"	"0"	"00006"	"MICU1_000047"	"g.74322748C>A"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1,  PM2_Supporting"	"Germline"	"yes"	""	"0"	""	""	"g.72562990C>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001048407"	"11"	"90"	"10"	"74326396"	"74326396"	"subst"	"0"	"00006"	"MICU1_000046"	"g.74326396C>T"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1,  PM2_Supporting, MP3"	"Germline"	"yes"	""	"0"	""	""	"g.72566638C>T"	""	"pathogenic (recessive)"	"ACMG"
"0001048408"	"21"	"70"	"10"	"74322748"	"74322748"	"subst"	"0"	"00006"	"MICU1_000047"	"g.74322748C>A"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1,  PM2_Supporting"	"Germline"	"yes"	""	"0"	""	""	"g.72562990C>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001048409"	"11"	"90"	"10"	"74128012"	"74128012"	"subst"	"4.06283E-6"	"00006"	"MICU1_000048"	"g.74128012G>A"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1_Moderate, PM2_Supporting, MP3"	"Germline"	"yes"	""	"0"	""	""	"g.72368254G>A"	""	"VUS"	"ACMG"
"0001048410"	"21"	"70"	"10"	"74234857"	"74311100"	"del"	"0"	"00006"	"MICU1_000049"	"g.(74183130_74234857)_(74311100_74322652)del"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1,  PM2_Supporting"	"Germline"	"yes"	""	"0"	""	""	"g.(72423372_72475099)_(72551342_72562894)del"	""	"likely pathogenic (recessive)"	"ACMG"
"0001048412"	"11"	"90"	"10"	"74128012"	"74128012"	"subst"	"4.06283E-6"	"00006"	"MICU1_000048"	"g.74128012G>A"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1_Moderate, PM2_Supporting, MP3"	"Germline"	"yes"	""	"0"	""	""	"g.72368254G>A"	""	"VUS"	"ACMG"
"0001048413"	"21"	"70"	"10"	"74234857"	"74311100"	"del"	"0"	"00006"	"MICU1_000049"	"g.(74183130_74234857)_(74311100_74322652)del"	""	"{DOI:Li 2025:10.3389/fneur.2025.1624830}"	""	""	"ACMG PVS1,  PM2_Supporting"	"Germline"	"yes"	""	"0"	""	""	"g.(72423372_72475099)_(72551342_72562894)del"	""	"likely pathogenic (recessive)"	"ACMG"
"0001058900"	"0"	"90"	"10"	"74268018"	"74268018"	"subst"	"0"	"00006"	"MICU1_000022"	"g.74268018G>A"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_006077.3:c.553C>T"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.72508260G>A"	""	"pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MICU1
## Count = 88
"{{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}}"
"0000017962"	"00026010"	"70"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl"	"p.?"	"8i"
"0000084584"	"00026010"	"90"	"386"	"0"	"386"	"0"	"c.386G>C"	"r.(?)"	"p.(Arg129Pro)"	"4"
"0000084623"	"00026010"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"2"
"0000095145"	"00026010"	"50"	"53"	"0"	"53"	"0"	"c.53G>A"	"r.(?)"	"p.(Gln18Arg)"	"2"
"0000095146"	"00026010"	"50"	"77"	"0"	"77"	"0"	"c.77C>G"	"r.(?)"	"p.(Pro26Arg)"	"2"
"0000095147"	"00026010"	"50"	"83"	"0"	"83"	"0"	"c.83A>G"	"r.(?)"	"p.(Gln83Arg)"	"2"
"0000095148"	"00026010"	"50"	"114"	"0"	"114"	"0"	"c.114C>G"	"r.(?)"	"p.(Phe38Leu)"	"2"
"0000095149"	"00026010"	"50"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl?"	"p.?"	"8i"
"0000095150"	"00026010"	"70"	"161"	"1"	"161"	"1"	"c.161+1G>A"	"r.spl"	"p.?"	"2i"
"0000095151"	"00026010"	"50"	"160"	"0"	"160"	"0"	"c.160A>G"	"r.(?)"	"p.(Arg54Gly)"	"2"
"0000095152"	"00026010"	"50"	"211"	"0"	"211"	"0"	"c.211G>C"	"r.(?)"	"p.(Gly71Arg)"	"3"
"0000095153"	"00026010"	"70"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129*)"	"4"
"0000095154"	"00026010"	"70"	"493"	"1"	"493"	"1"	"c.493+1G>A"	"r.spl"	"p.?"	"4i"
"0000095155"	"00026010"	"70"	"638"	"0"	"639"	"0"	"c.638_639del"	"r.spl"	"p.(Thr213AsnfsTer11)"	"7"
"0000095156"	"00026010"	"70"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl"	"p.?"	"8i"
"0000095157"	"00026010"	"70"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl"	"p.?"	"8i"
"0000095158"	"00026010"	"90"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.735_736ins[A;735+2_735+155]"	"p.Val246ThrfsTer9"	"8i"
"0000095159"	"00026010"	"70"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl"	"p.?"	"8i"
"0000095160"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095161"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095162"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095163"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095164"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095165"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095166"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.1071_1072ins[1072-34_1072-2;C]"	"p.Gly358ValfsTer28"	"10i"
"0000095167"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095168"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095169"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000095170"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000683563"	"00026010"	"90"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Gln183Ter)"	""
"0000852568"	"00026010"	"90"	"931"	"0"	"931"	"0"	"c.931G>T"	"r.(?)"	"p.(Glu311*)"	""
"0000852569"	"00026010"	"50"	"119"	"0"	"119"	"0"	"c.119G>A"	"r.(?)"	"p.(Gly40Glu)"	""
"0000869868"	"00026010"	"90"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl"	"p.?"	"8i"
"0000913322"	"00026010"	"50"	"355"	"0"	"355"	"0"	"c.355C>G"	"r.(?)"	"p.(Arg119Gly)"	""
"0000955067"	"00026010"	"70"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	"10i"
"0000955068"	"00026010"	"70"	"513"	"0"	"513"	"0"	"c.513T>A"	"r.(?)"	"p.(Tyr171Ter)"	"5"
"0000979131"	"00026010"	"50"	"1319"	"0"	"1319"	"0"	"c.1319G>A"	"r.(?)"	"p.(Arg440Gln)"	""
"0000979132"	"00026010"	"50"	"981"	"0"	"981"	"0"	"c.981T>G"	"r.(?)"	"p.(Phe327Leu)"	""
"0001037997"	"00026010"	"30"	"1270"	"9"	"1270"	"9"	"c.1270+9G>A"	"r.(=)"	"p.(=)"	""
"0001037998"	"00026010"	"70"	"736"	"-1"	"736"	"-1"	"c.736-1G>A"	"r.spl?"	"p.?"	"8i"
"0001047781"	"00026010"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Arg119Ter)"	""
"0001047782"	"00026010"	"90"	"493"	"1"	"493"	"1"	"c.493+1G>A"	"r.(331_493del)"	"p.(Val111ThrfsTer7)"	"4i"
"0001047783"	"00026010"	"70"	"508"	"0"	"508"	"0"	"c.508C>T"	"r.(?)"	"p.(Gln170Ter)"	""
"0001047784"	"00026010"	"70"	"1226"	"0"	"1226"	"0"	"c.1226C>G"	"r.(?)"	"p.(Ser409Ter)"	""
"0001047785"	"00026010"	"90"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Gln183Ter)"	""
"0001047786"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047787"	"00026010"	"90"	"1289"	"0"	"1289"	"0"	"c.1289del"	"r.(1289del)"	"p.(Asn430IlefsTer8)"	""
"0001047789"	"00026010"	"90"	"1289"	"0"	"1289"	"0"	"c.1289del"	"r.(1289del)"	"p.(Asn430IlefsTer8)"	""
"0001047799"	"00026010"	"90"	"161"	"1"	"161"	"1"	"c.161+1G>A"	"r.spl"	"p.?"	""
"0001047801"	"00026010"	"70"	"386"	"0"	"386"	"0"	"c.386G>C"	"r.(?)"	"p.(Arg129Pro)"	""
"0001047808"	"00026010"	"90"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129Ter)"	""
"0001047821"	"00026010"	"90"	"-1"	"-19"	"161"	"21"	"c.(-2+1_-1-19)_(161+21_162-1)del"	"r.-1_161del"	"p.0?"	"1i_2i"
"0001047831"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047840"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047847"	"00026010"	"70"	"52"	"0"	"52"	"0"	"c.52C>T"	"r.(?)"	"p.(Arg18Ter)"	""
"0001047851"	"00026010"	"90"	"-1"	"-1"	"161"	"1"	"c.(-2+1_-1-1)_(161+1_162-1)del"	"r.(-1_161del)"	"p.0?"	"1i_2i"
"0001047867"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047868"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047869"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047870"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047871"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047872"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047873"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047874"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047875"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047876"	"00026010"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0001047877"	"00026010"	"70"	"0"	"0"	"0"	"0"	"c.(933+1_934-69_1180+129_1181-1)dup"	"r.?"	"p.?"	"8i_10i"
"0001047878"	"00026010"	"90"	"-2094"	"0"	"-2"	"683"	"c.-2094_-2+683del"	"r.0?"	"p.0"	"_1_1i"
"0001047882"	"00026010"	"90"	"161"	"1"	"161"	"1"	"c.161+1G>A"	"r.spl"	"p.?"	""
"0001047883"	"00026010"	"90"	"386"	"0"	"386"	"0"	"c.386G>C"	"r.(?)"	"p.(Arg129Pro)"	""
"0001047888"	"00026010"	"90"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Gln183Ter)"	""
"0001047889"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	""
"0001047892"	"00026010"	"90"	"735"	"1"	"735"	"1"	"c.735+1G>A"	"r.spl"	"p.?"	"8i"
"0001047893"	"00026010"	"90"	"161"	"1"	"161"	"1"	"c.161+1G>A"	"r.spl"	"p.0?"	""
"0001047894"	"00026010"	"90"	"386"	"0"	"386"	"0"	"c.386G>C"	"r.(?)"	"p.(Arg129Pro)"	""
"0001047895"	"00026010"	"90"	"1042"	"0"	"1042"	"0"	"c.1042C>T"	"r.(?)"	"p.(Gln348Ter)"	""
"0001047896"	"00026010"	"90"	"40"	"0"	"40"	"0"	"c.40del"	"r.(?)"	"p.(Ala14LeufsTer20)"	"2"
"0001047897"	"00026010"	"90"	"1072"	"-1"	"1072"	"-1"	"c.1072-1G>C"	"r.spl"	"p.?"	""
"0001047898"	"00026010"	"90"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Gln183Ter)"	""
"0001048405"	"00026010"	"90"	"156"	"0"	"156"	"0"	"c.156G>A"	"r.(?)"	"p.(Trp52Ter)"	""
"0001048406"	"00026010"	"70"	"235"	"0"	"235"	"0"	"c.235G>T"	"r.(?)"	"p.(Glu79Ter)"	""
"0001048407"	"00026010"	"90"	"156"	"0"	"156"	"0"	"c.156G>A"	"r.(?)"	"p.(Trp52Ter)"	""
"0001048408"	"00026010"	"70"	"235"	"0"	"235"	"0"	"c.235G>T"	"r.(?)"	"p.(Glu79Ter)"	""
"0001048409"	"00026010"	"90"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Gln458Ter)"	""
"0001048410"	"00026010"	"70"	"331"	"-1"	"933"	"1"	"c.(330+1_331-1)_(933+1_934-1)del"	"r.?"	"p.?"	"3i_8i"
"0001048412"	"00026010"	"90"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Gln458Ter)"	""
"0001048413"	"00026010"	"70"	"331"	"-1"	"933"	"1"	"c.(330+1_331-1)_(933+1_934-1)del"	"r.?"	"p.?"	"3i_8i"
"0001058900"	"00026010"	"90"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	":p.(Gln183Ter)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 70
"{{screeningid}}"	"{{variantid}}"
"0000001006"	"0000017962"
"0000054634"	"0000084584"
"0000054634"	"0000084623"
"0000064176"	"0000095156"
"0000064177"	"0000095157"
"0000064178"	"0000095158"
"0000064179"	"0000095159"
"0000064180"	"0000095160"
"0000064181"	"0000095161"
"0000064182"	"0000095162"
"0000064183"	"0000095163"
"0000064184"	"0000095164"
"0000064185"	"0000095165"
"0000064186"	"0000095166"
"0000064187"	"0000095167"
"0000064188"	"0000095168"
"0000064189"	"0000095169"
"0000064190"	"0000095170"
"0000309100"	"0000683563"
"0000412521"	"0000869868"
"0000446709"	"0000955067"
"0000446709"	"0000955068"
"0000468138"	"0001047781"
"0000468139"	"0001047782"
"0000468140"	"0001047783"
"0000468141"	"0001047784"
"0000468142"	"0001047785"
"0000468143"	"0001047786"
"0000468144"	"0001047787"
"0000468145"	"0001047789"
"0000468146"	"0001047799"
"0000468146"	"0001047801"
"0000468147"	"0001047808"
"0000468148"	"0001047821"
"0000468149"	"0001047831"
"0000468150"	"0001047840"
"0000468151"	"0001047847"
"0000468151"	"0001047851"
"0000468152"	"0001047867"
"0000468153"	"0001047868"
"0000468154"	"0001047869"
"0000468155"	"0001047870"
"0000468156"	"0001047871"
"0000468157"	"0001047872"
"0000468158"	"0001047873"
"0000468158"	"0001047877"
"0000468159"	"0001047874"
"0000468160"	"0001047875"
"0000468161"	"0001047876"
"0000468162"	"0001047878"
"0000468165"	"0001047882"
"0000468165"	"0001047883"
"0000468170"	"0001047888"
"0000468171"	"0001047889"
"0000468172"	"0001047892"
"0000468173"	"0001047893"
"0000468173"	"0001047894"
"0000468174"	"0001047895"
"0000468174"	"0001047896"
"0000468175"	"0001047897"
"0000468176"	"0001047898"
"0000468533"	"0001048405"
"0000468533"	"0001048406"
"0000468534"	"0001048407"
"0000468534"	"0001048408"
"0000468535"	"0001048409"
"0000468535"	"0001048410"
"0000468537"	"0001048412"
"0000468537"	"0001048413"
"0000470778"	"0001058900"