![](\"docs/MitoDyn_logo.jpg\"){kind=logo}
A database from the MITOchondrial DYNamics variation portal and the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\"){kind=logo}
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.\r\nGDAP1, which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 variants are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the variants have been found in only a few unrelated patients." "" "g" "http://databases.lovd.nl/shared/refseq/GDAP1_codingDNA.html" "1" "" " A database from the MITOchondrial DYNamics variation portal.This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-08-01 16:27:02" "00000" "2024-10-29 21:08:56" ## 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}}" "00008426" "GDAP1" "ganglioside-induced differentiation-associated protein 1, transcript variant 1" "001" "NM_018972.2" "" "NP_061845.2" "" "" "" "-79" "3820" "1077" "75262618" "75279345" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "01705" "CMT4A" "Charcot-Marie-Tooth disease, type 4A (CMT-4A)" "AR" "214400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02697" "-" "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" "AR" "607706" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02709" "CMT2K" "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K" "AD;AR" "607831" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-26 08:42:49" "02752" "CMTRIA" "Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA)" "AR" "608340" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GDAP1" "01705" "GDAP1" "02697" "GDAP1" "02709" "GDAP1" "02752" ## Individuals ## Do not remove or alter this header ## ## Count = 100 "{{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}}" "00035924" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00103670" "" "" "" "1" "" "00006" "{PMID:Crimella 2010:20685671}" "" "" "" "" "" "0" "" "" "" "?" "00103671" "" "" "" "1" "" "00006" "{PMID:Di Maria 2004:15377708}" "" "" "" "" "" "0" "" "" "" "?" "00103672" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:12566285}" "" "" "" "" "" "0" "" "" "" "?" "00103673" "" "" "" "1" "" "00006" "{PMID:Ammar 2003:14561495}" "" "" "" "" "" "0" "" "" "" "?" "00103674" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2003:12601710}" "" "" "" "" "" "0" "" "" "" "?" "00103675" "" "" "" "1" "" "00006" "{PMID:Moroni 2009:19500985}" "" "" "" "" "" "0" "" "" "" "?" "00103676" "" "" "" "1" "" "00006" "{PMID:Zimon 2011:21753178}" "" "" "" "" "" "0" "" "" "" "?" "00103677" "" "" "" "1" "" "00006" "{PMID:Moroni 2009:19500985}" "" "" "" "" "" "0" "" "" "" "?" "00103678" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2005:15944907}" "" "" "" "" "" "0" "" "" "" "?" "00103679" "" "" "" "1" "" "00006" "{PMID:Georgiou 2006:17001820}" "" "" "" "" "" "0" "" "" "" "?" "00103680" "" "" "" "1" "" "00006" "{PMID:Parman 2004:15469949}" "" "" "" "" "" "0" "" "" "" "?" "00103681" "" "" "" "1" "" "00006" "{PMID:Sevilla 2008:18812441}" "" "" "" "" "" "0" "" "" "" "?" "00103682" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2007:18421898}" "" "" "" "" "" "0" "" "" "" "?" "00103683" "" "" "" "1" "" "00006" "{PMID:Zimon 2011:21753178}" "" "" "" "" "" "0" "" "" "" "?" "00103684" "" "" "" "1" "" "00006" "{PMID:Claramunt 2005:15805163}" "" "" "" "" "" "0" "" "" "" "?" "00103685" "" "" "" "1" "" "00006" "{PMID:Baxter 2002:11743579}" "family, several affecteds, unaffected heterozygous carrier parents/relatives" "" "yes" "Tunisia" "" "0" "" "" "" "11743579-FamDUK1403" "00103686" "" "" "" "9" "" "00006" "{PMID:Cuesta 2002:11743580}" "5-generation family, 9 affecteds (3F, 6M), unaffected heterozygous carrier parents" "F;M" "yes" "Spain" "" "0" "" "" "" "11743580-FamLF38" "00103687" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15192818}" "" "" "" "" "" "0" "" "" "" "?" "00103688" "" "" "" "1" "" "00006" "{PMID:Stojkovic 2004:15019704}" "" "" "" "" "" "0" "" "" "" "?" "00103689" "" "" "" "1" "" "00006" "{PMID:Barankova 2007:17433678}" "" "" "" "" "" "0" "" "" "" "?" "00103690" "" "" "" "1" "" "00006" "{PMID:Baxter 2002:11743579}" "family, several affecteds, unaffected heterozygous carrier parents/relatives" "" "yes" "Tunisia" "" "0" "" "" "" "11743579-FamDUK1402" "00103691" "" "" "" "1" "" "00006" "{PMID:Chung 2008:18231710}" "" "" "" "" "" "0" "" "" "" "?" "00103692" "" "" "" "1" "" "00006" "{PMID:Auer-Grumbach 2008:18504680}" "" "" "" "" "" "0" "" "" "" "?" "00103693" "" "" "" "1" "" "00006" "{PMID:Moroni 2009:19500985}" "" "" "" "" "" "0" "" "" "" "?" "00103694" "" "" "" "1" "" "00006" "{PMID:Chung 2011:21692914}" "" "" "" "" "" "0" "" "" "" "?" "00103695" "" "" "" "1" "" "00006" "{PMID:De Sandre-Giovannoli 2003:12843336}" "" "" "" "" "" "0" "" "" "" "?" "00103696" "" "" "" "1" "" "00006" "{PMID:Crimella 2010:20685671}" "" "" "" "" "" "0" "" "" "" "?" "00103697" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2010:20232219}" "" "" "" "" "" "0" "" "" "" "?" "00103698" "" "" "" "1" "" "00006" "{PMID:Xin 2008:18492089}" "" "" "" "" "" "0" "" "" "" "?" "00103699" "" "" "" "1" "" "00006" "{PMID:Ammar 2003:14561495}" "" "" "" "" "" "0" "" "" "" "?" "00103700" "" "" "" "1" "" "00006" "{PMID:Cassereau 2009:19089472}" "" "" "" "" "" "0" "" "" "" "?" "00103701" "" "" "" "1" "" "00006" "{PMID:Abe 2011:21326314}" "" "" "" "" "" "0" "" "" "" "?" "00103702" "" "" "" "1" "" "00006" "{PMID:Zhang 2004:15192818}" "" "" "" "" "" "0" "" "" "" "?" "00103703" "" "" "" "1" "" "00006" "{PMID:Bouhouche 2007:18062449}" "" "" "" "" "" "0" "" "" "" "?" "00103704" "" "" "" "1" "" "00006" "{PMID:Shagina 2010:21322820}" "" "" "" "" "" "0" "" "" "" "?" "00103705" "" "" "" "2" "" "00006" "{PMID:Nelis 2002:12499475}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs" "F;M" "" "Turkey" "" "0" "" "" "" "12499475-FamCMT109" "00103706" "" "" "" "1" "" "00006" "{PMID:Ammar 2003:14561495}" "" "" "" "" "" "0" "" "" "" "?" "00103707" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2010:20232219}" "" "" "" "" "" "0" "" "" "" "?" "00103708" "" "" "" "1" "" "00006" "{PMID:Zimon 2011:21753178}" "" "" "" "" "" "0" "" "" "" "?" "00103709" "" "" "" "1" "" "00006" "{PMID:Rougeot 2008:18991200}" "" "" "" "" "" "0" "" "" "" "?" "00103710" "" "" "" "2" "" "00006" "{PMID:Nelis 2002:12499475}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "12499475-FamCMT139" "00103711" "" "" "" "1" "" "00006" "{PMID:Abe 2011:21326314}" "" "" "" "" "" "0" "" "" "" "?" "00103712" "" "" "" "1" "" "00006" "{PMID:Cuesta 2002:11743580}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Spain" "" "0" "" "" "" "11743580-FamLF20" "00103713" "" "" "" "1" "" "00006" "{PMID:Moroni 2009:19500985}" "" "" "" "" "" "0" "" "" "" "?" "00103714" "" "" "" "1" "" "00006" "{PMID:Crimella 2010:20685671}" "" "" "" "" "" "0" "" "" "" "?" "00103715" "" "" "" "1" "" "00006" "{PMID:Azzedine 2003:12868504}" "" "" "" "" "" "0" "" "" "" "?" "00103716" "" "" "" "1" "" "00006" "{PMID:Baxter 2002:11743579}" "family, several affecteds, unaffected heterozygous carrier parents/relatives" "" "yes" "Tunisia" "" "0" "" "" "" "11743579-FamDUK1404" "00103717" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2011:21365284}" "" "" "" "" "" "0" "" "" "" "?" "00103718" "" "" "" "1" "" "00006" "{PMID:Moroni 2009:19500985}" "" "" "" "" "" "0" "" "" "" "?" "00103719" "" "" "" "1" "" "00006" "{PMID:Chung 2011:21692914}" "" "" "" "" "" "0" "" "" "" "?" "00103720" "" "" "" "1" "" "00006" "{PMID:Ammar 2003:14561495}" "" "" "" "" "" "0" "" "" "" "?" "00103721" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2006:16343542}" "" "" "" "" "" "0" "" "" "" "?" "00103722" "" "" "" "1" "" "00006" "{PMID:Cuesta 2002:11743580}" "family, several affecteds, unaffected heterozygous carrier parents/relatives" "" "no" "Spain" "" "0" "" "" "" "11743580-FamLF249" "00103723" "" "" "" "1" "" "00006" "{PMID:Baxter 2002:11743579}" "family, several affecteds, unaffected heterozygous carrier parents/relatives" "" "yes" "Tunisia" "" "0" "" "" "" "11743579-FamDUK1405" "00103724" "" "" "" "2" "" "00006" "{PMID:Nelis 2002:12499475}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "12499475-FamPN860" "00103725" "" "" "" "3" "" "00006" "{PMID:Nelis 2002:12499475}" "2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "F;M" "" "Turkey" "" "0" "" "" "" "12499475-FamCMT111" "00219055" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat65" "00219056" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat66" "00228269" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00263913" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263914" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263915" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263916" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263917" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00294666" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294667" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299992" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-a" "00299993" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-a" "00299994" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-a" "00300053" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-a" "00300054" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300055" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300105" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-b" "00300113" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-b" "00300116" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-b" "00300122" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-GDAP1-b" "00300127" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat16" "00324635" "" "" "" "1" "" "00006" "{PMID:Lin 2011:232206013}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam3" "00374322" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-710" "00374323" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3459" "00374324" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5873" "00374325" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5083" "00374720" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4324" "00398625" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 2 affected" "M" "" "Italy" ">69y" "" "" "" "" "1196" "00398980" "" "" "" "1" "" "04188" "{PMID:Xue H 2021:34470922}" "2-generation family, 1 affected, unaffected father, unaffected carrier mother" "M" "" "China" ">16y" "0" "" "" "Chinese" "" "00398982" "" "" "" "3" "" "04188" "{PMID:Mai PT 2019:31179332}" "2-generation family, 3 affected siblings, 2 unaffected carrier parents" "F" "" "Viet Nam" ">16y" "0" "" "" "Vietnamese" "II-1" "00399124" "" "" "00398982" "1" "" "04188" "{PMID:Mai PT 2019:31179332}" "2-generation family, 3 affected siblings, 2 unaffected carrier parents" "F" "" "Viet Nam" ">12y" "0" "" "" "Vietnamese" "II-2" "00399125" "" "" "00398982" "1" "" "04188" "{PMID:Mai PT 2019:31179332}" "2-generation family, 3 affected siblings, 2 unaffected carrier parents" "M" "" "Viet Nam" ">03y04m" "0" "" "" "Vietnamese" "II-3" "00400218" "" "" "" "3" "" "04188" "{PMID:Khani 2020:32897397}" "3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested" "F" "" "Iran" ">24y" "0" "" "" "" "CMT2-102-II7" "00400219" "" "" "00400218" "1" "" "04188" "{PMID:Khani 2020:32897397}" "3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested" "F" "" "Iran" ">11y" "0" "" "" "" "CMT2-102-III4" "00400220" "" "" "00400218" "1" "" "04188" "{PMID:Khani 2020:32897397}" "3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested" "F" "" "Iran" ">05y" "0" "" "" "" "CMT2-102-III6" "00400221" "" "" "" "2" "" "04188" "{PMID:Jiang H 2021:33653295}" "2-generation family, 2 affected, 1 unaffected, 2 unaffected carrier parents" "F" "no" "China" ">29y" "0" "" "" "Chinese" "II-2" "00400222" "" "" "" "1" "" "04188" "{PMID:Chen 2020:33136338}" "3-generation family, 3 affected, 5 unaffected carriers, 2 untested" "M" "no" "China" ">30y" "0" "" "" "" "Family 1 III-1" "00400223" "" "" "" "1" "" "04188" "{PMID:Chen 2020:33136338}" "2-generation family, 1 affected, 2 unaffected carriers" "M" "" "China" ">05y" "0" "" "" "" "Family 2 II-1" "00400224" "" "" "" "1" "" "04188" "{PMID:Chen 2020:33136338}" "3-generation family, 1 affected, 1 unaffected carrier, 1 unaffected, 2 untested" "F" "" "China" ">73y" "0" "" "" "" "Family 3 II-2" "00400225" "" "" "" "1" "cc_by_4.0;1" "04188" "{PMID:Fierro 2020:33187793}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Mexico" ">10y" "0" "" "" "" "FamPatII7" "00403765" "" "" "" "2" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00403768" "" "" "" "2" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00403769" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 99 "{{individualid}}" "{{diseaseid}}" "00103670" "02709" "00103671" "05113" "00103672" "05113" "00103673" "05113" "00103674" "01705" "00103675" "01705" "00103676" "05113" "00103677" "01705" "00103678" "05113" "00103679" "05113" "00103680" "00198" "00103681" "01705" "00103682" "05113" "00103683" "05113" "00103684" "01705" "00103685" "01705" "00103686" "02697" "00103687" "05113" "00103688" "05113" "00103689" "05113" "00103690" "01705" "00103691" "01705" "00103692" "05113" "00103693" "01705" "00103694" "05113" "00103695" "00198" "00103696" "02709" "00103697" "00199" "00103698" "05113" "00103699" "05113" "00103700" "02709" "00103701" "05113" "00103702" "05113" "00103703" "01705" "00103704" "01705" "00103705" "01705" "00103706" "05113" "00103707" "00199" "00103708" "05113" "00103709" "00198" "00103710" "01705" "00103711" "05113" "00103712" "02697" "00103713" "01705" "00103714" "02709" "00103715" "05113" "00103716" "01705" "00103717" "05113" "00103718" "01705" "00103719" "05113" "00103720" "05113" "00103721" "01705" "00103722" "02697" "00103723" "01705" "00103724" "01705" "00103725" "01705" "00219055" "05113" "00219056" "05113" "00228269" "00198" "00263913" "00199" "00263914" "00199" "00263915" "00199" "00263916" "00199" "00263917" "00199" "00294666" "00198" "00294667" "00198" "00299992" "00199" "00299993" "05113" "00299994" "00199" "00300053" "00199" "00300054" "05113" "00300055" "05113" "00300105" "00199" "00300113" "00199" "00300116" "00199" "00300122" "00199" "00300127" "00199" "00324635" "05113" "00374322" "00198" "00374323" "00198" "00374324" "00198" "00374325" "00198" "00374720" "00198" "00398625" "02709" "00398980" "01705" "00398982" "01705" "00399124" "01705" "00399125" "01705" "00400218" "00199" "00400219" "00199" "00400220" "00199" "00400221" "01705" "00400222" "05113" "00400223" "02709" "00400224" "02709" "00400225" "00199" "00403765" "00199" "00403768" "00199" "00403769" "00199" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 01705, 02697, 02709, 02752, 05113 ## Count = 86 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081601" "02709" "00103670" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2K, axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081602" "05113" "00103671" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081603" "05113" "00103672" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081604" "05113" "00103673" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081605" "01705" "00103674" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081606" "01705" "00103675" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A, early onset axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081607" "05113" "00103676" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000081608" "01705" "00103677" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A, early onset axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081609" "05113" "00103678" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081610" "05113" "00103679" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081611" "00198" "00103680" "00006" "Unknown" "" "Demyelinating peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000081612" "01705" "00103681" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081613" "05113" "00103682" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081614" "05113" "00103683" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000081615" "01705" "00103684" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081616" "01705" "00103685" "00006" "Familial, autosomal recessive" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081618" "05113" "00103687" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081619" "05113" "00103688" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081620" "05113" "00103689" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081621" "01705" "00103690" "00006" "Familial, autosomal recessive" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081622" "01705" "00103691" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081623" "05113" "00103692" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081624" "01705" "00103693" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A, early onset axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081625" "05113" "00103694" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081626" "00198" "00103695" "00006" "Unknown" "" "Demyelinating peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000081627" "02709" "00103696" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2K, axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081628" "00199" "00103697" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2" "" "" "" "" "" "" "" "" "" "" "" "0000081629" "05113" "00103698" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081630" "05113" "00103699" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081631" "02709" "00103700" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2K" "" "" "" "" "" "" "" "" "" "" "" "0000081632" "05113" "00103701" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081633" "05113" "00103702" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081634" "01705" "00103703" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081635" "01705" "00103704" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081636" "01705" "00103705" "00006" "Familial, autosomal recessive" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081637" "05113" "00103706" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081638" "00199" "00103707" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2" "" "" "" "" "" "" "" "" "" "" "" "0000081639" "05113" "00103708" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000081640" "00198" "00103709" "00006" "Unknown" "" "Neuropathy, early onset" "" "" "" "" "" "" "" "" "" "" "" "0000081641" "01705" "00103710" "00006" "Familial, autosomal recessive" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081642" "05113" "00103711" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081644" "01705" "00103713" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A, early onset axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081645" "02709" "00103714" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2K, axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081646" "05113" "00103715" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081647" "01705" "00103716" "00006" "Familial, autosomal recessive" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081648" "05113" "00103717" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 2C" "" "" "" "" "" "" "" "" "" "" "" "0000081649" "01705" "00103718" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A, early onset axonal" "" "" "" "" "" "" "" "" "" "" "" "0000081650" "05113" "00103719" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081651" "05113" "00103720" "00006" "Unknown" "" "Charcot-Marie-Tooth disease, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000081652" "01705" "00103721" "00006" "Unknown" "" "Charcot-Marie-Tooth disease 4A" "" "" "" "" "" "" "" "" "" "" "" "0000081653" "02697" "00103686" "00006" "Familial, autosomal recessive" "" "see paper; ..., autosomal recessive distal axonal neuropathy with hoarseness and vocal cord paresis" "" "" "" "" "" "" "" "" "" "" "" "0000081654" "02697" "00103712" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081655" "02697" "00103722" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081656" "01705" "00103723" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081657" "01705" "00103724" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000081658" "01705" "00103725" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000167612" "05113" "00219055" "00006" "Unknown" "" "CMT4A, AR-CMT, CMT2K, CMT RIA" "" "" "" "" "" "" "" "" "CMT-2K" "Charcot-Marie-Tooth diseae" "" "0000167613" "05113" "00219056" "00006" "Unknown" "" "CMT4A, AR-CMT, CMT2K, CMT RIA; no family history" "" "" "" "" "" "" "" "" "CMT-2K" "Charcot-Marie-Tooth diseae" "" "0000172199" "00198" "00228269" "01807" "Unknown" "" "Motor axonal neuropathy (HP:0007002); Sensory axonal neuropathy (HP:0003390)" "" "" "" "" "" "" "" "" "" "" "" "0000227313" "00199" "00299992" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227314" "05113" "00299993" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227315" "00199" "00299994" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227374" "00199" "00300053" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227375" "05113" "00300054" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227376" "05113" "00300055" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227426" "00199" "00300105" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227434" "00199" "00300113" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227437" "00199" "00300116" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227443" "00199" "00300122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227448" "00199" "00300127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000243140" "05113" "00324635" "00006" "Familial, autosomal recessive" "5y" "see paper; ..." "<1y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000269532" "00198" "00374322" "00006" "Familial, autosomal recessive" "" "Features suggestive of neuropathies" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269533" "00198" "00374323" "00006" "Familial, autosomal recessive" "" "Delayed motor milestones, distal lower limb weakness, upper limb weakness, thenar and hypothenar wasting, distal limb wasting with arreflexia" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth diseasen" "" "0000269534" "00198" "00374324" "00006" "Familial, autosomal recessive" "" "Distal weakness and features suggestive of hereditary motor sensory neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269535" "00198" "00374325" "00006" "Familial, autosomal dominant" "" "Features suggestive of ASD" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000269930" "00198" "00374720" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000291711" "02709" "00398625" "04188" "Familial, autosomal dominant" "69y" "see paper; ..., peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)" "57y" "" "Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)" "" "" "" "" "" "CMT2K" "CMT" "" "0000292069" "01705" "00398980" "04188" "Familial, autosomal recessive" "16y" "Gait disturbance (HP:0001288),Lower limb amyotrophy (HP:0007210), Split hand (HP:0001171), Difficulty running (HP:0009046), Difficult climbing stairs (HP:0003551), Lower limb muscle weakness (HP:0007340), High-arched feet \r\nPes cavus (HP:0001761), Ankle weakness (HP:0031374), Limited ankle dorsiflexion (HP:0033526), No spinal deformities (-HP:0008443), Reduced tendon reflexes (HP:0001315), No impaired tactile sensation (-HP:0010830), No impaired pain sensation (-HP:0007328), Decreased nerve conduction velocity (HP:0000762)" "06y" "" "Difficulty running (HP:0009046), Difficult climbing stairs (HP:0003551)" "" "" "" "" "" "CMT4A" "CMT" "" "0000292212" "01705" "00398982" "04188" "Familial, autosomal recessive" "16y" "Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), \r\nAreflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046)" "02y03m" "" "Difficulty running (HP:0009046)" "" "" "" "" "" "CMT4A" "CMT" "" "0000292213" "01705" "00399124" "04188" "Familial, autosomal recessive" "12y" "Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046)" "02y03m" "" "Difficulty running (HP:0009046)" "" "" "" "" "" "CMT4A" "CMT" "" "0000292214" "01705" "00399125" "04188" "Familial, autosomal recessive" "03y04m" "Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046)" "02y03m" "" "Difficulty running (HP:0009046)" "" "" "" "" "" "CMT4A" "CMT" "" "0000293261" "01705" "00400221" "04188" "Familial, autosomal recessive" "29y" "Skeletal muscle atrophy (HP:0003202), Abnormal bone ossification (HP:0011849), No abnormal bone structure (-HP:0003330), Ankle flexion contracture (HP:0006466), Pes cavus (HP:0001761), Muscle weakness (HP:0001324), Bilateral talipes equinovarus (HP:0001776), Abnormality of the wrist (HP:0003019), Joint contracture of the hand (HP:0009473), Contracture involving the joints of the feet (HP:0008366), No poor speech (-HP:0002465), No hearing abnormality (-HP:0000364), No abnormality of vision (-HP:0000504), No intellectual disability (-HP:0001249), Poor gross motor coordination (HP:0007015), Somatic sensory dysfunction (HP:0003474), Peripheral neuropathy (HP:0009830), Reduced bone mineral density (HP:0004349), No skeletal dysplasia (HP:0002652), Gait disturbance (HP:0001288)" "05y" "" "Gait disturbance (HP:0001288)" "" "" "" "" "" "CMT4A" "CMT" "" "0000293334" "00199" "00400225" "04188" "Familial, autosomal recessive" "10y" "Toe walking (HP:0040083), Pes cavus (HP:0001761), Foot dorsiflexor weakness (HP:0009027), Distal muscle weakness (HP:0002460), Distal amyotrophy (HP:0003693), Gait disturbance (HP:0001288), Inability to walk (HP:0002540), No areflexia (-HP:0001284), Impaired vibratory sensation (HP:0002495), Impaired tactile sensation (HP:0010830), Sensorimotor neuropathy (HP:0007141), Delayed ability to walk (HP:0031936)" "01y06m" "" "Delayed ability to walk (HP:0031936)" "" "" "" "" "" "CMT2" "CMT" "" "0000296463" "00199" "00403765" "00435" "Familial, autosomal recessive" "16y" "The proband is a-16-years old female who is a product of normal pregnancy and delivery of two healthy parents (consanguineous marriage). She developed the illness at the age of 6 which started as tiptoe walking, progressive upper and lower limbs weakness and wasting followed by bilateral foot drop. She was ambulant and walk without support. She has a brother 30 years old with similar condition and nearly started at the same patient’s onset. Neurological examination revealed wasting of small muscles of the hands, forearms and legs, marked on the left side; weakness of hand grips, fingers, ankles dorsiflexion and planter flexion (grade: 2/3); diminished deep tendon jerks in both upper and lower limbs; lost planter response; stocking and glove hypesthesia, lost deep sensation in lower limbs, bilateral foot drop. Nerve conduction velocity study showed mainly axonal peripheral neuropathy." "06y" "" "6y" "GDAP1" "" "" "" "" "CMT-2" "CMT-2" "" "0000296465" "00199" "00403768" "00435" "Familial, autosomal recessive" "30y" "The proband is a-30-years old male who is a product of normal pregnancy and delivery of two healthy parents (with consanguineous marriage). He developed the illness at the age of 6-7 in the form of progressive lower limbs weakness and wasting followed with 2 years by upper limb weakness and wasting and bilateral foot drop. He walked with moderate support and high stoppages. He has a sister 16 years old with similar condition and nearly started at the same patient’s onset. Neurological examination revealed wasting of small muscles of the hands, forearms and legs; weakness of hand grips, fingers (grade: 2), ankles dorsiflexion and planter flexion (grade: 0); lost deep tendon jerks in both upper and lower limbs; lost planter response; stocking and glove hypesthesia, lost deep sensation in lower limbs, bilateral equinous foot deformities. Nerve conduction velocity study showed severe axonal peripheral neuropathy. \r\ng.44104A>C" "06y" "" "" "" "" "" "" "" "CMT-2" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000296466" "00199" "00403769" "00435" "Familial, autosomal recessive" "12y" "12-year boy with progressive weakness and wasting of both upper and lower limbs, sensor loss of hands and feet and bilateral pes cavus." "06y" "" "" "" "" "" "" "" "CMT-2" "Autosomal recessive Hereditary sensorimotor neuropathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 100 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035994" "00035924" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000104127" "00103670" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104128" "00103681" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104129" "00103692" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104130" "00103703" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104131" "00103714" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104132" "00103718" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104133" "00103719" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104134" "00103720" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104135" "00103721" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104136" "00103671" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104137" "00103672" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104138" "00103673" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104139" "00103674" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104140" "00103675" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104141" "00103676" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104142" "00103677" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104143" "00103678" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104144" "00103679" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104145" "00103680" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104146" "00103682" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104147" "00103683" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104148" "00103684" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104149" "00103685" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104150" "00103686" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104151" "00103687" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104152" "00103688" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104153" "00103689" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104154" "00103690" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104155" "00103691" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104156" "00103693" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104157" "00103694" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104158" "00103695" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104159" "00103696" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104160" "00103697" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104161" "00103698" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104162" "00103699" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104163" "00103700" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104164" "00103701" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104165" "00103702" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104166" "00103704" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104167" "00103705" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104168" "00103706" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104169" "00103707" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104170" "00103708" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104171" "00103709" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104172" "00103710" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104173" "00103711" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104174" "00103712" "1" "00006" "00006" "2012-11-05 15:55:16" "00006" "2017-04-16 12:29:34" "SEQ" "DNA" "" "" "0000104175" "00103713" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104176" "00103715" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104177" "00103716" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104178" "00103717" "0" "00006" "00006" "2012-11-05 15:55:16" "" "" "SEQ" "DNA" "" "" "0000104179" "00103722" "1" "00006" "00006" "2017-04-16 12:34:46" "" "" "SEQ" "DNA" "" "" "0000104180" "00103723" "1" "00006" "00006" "2017-04-16 12:40:01" "" "" "SEQ" "DNA" "" "" "0000104181" "00103724" "1" "00006" "00006" "2017-04-16 13:05:40" "" "" "SEQ" "DNA" "" "" "0000104182" "00103725" "1" "00006" "00006" "2017-04-16 13:09:41" "" "" "SEQ" "DNA" "" "" "0000220127" "00219055" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220128" "00219056" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000229359" "00228269" "1" "01807" "01807" "2019-03-22 14:55:50" "" "" "SEQ" "DNA" "" "" "0000265023" "00263913" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265024" "00263914" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265025" "00263915" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265026" "00263916" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265027" "00263917" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000295834" "00294666" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295835" "00294667" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301108" "00299992" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301109" "00299993" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301110" "00299994" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301169" "00300053" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301170" "00300054" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301171" "00300055" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301221" "00300105" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301229" "00300113" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301232" "00300116" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301238" "00300122" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301243" "00300127" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000325834" "00324635" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000375516" "00374322" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375517" "00374323" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375518" "00374324" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375519" "00374325" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375914" "00374720" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000399870" "00398625" "1" "04188" "04188" "2022-01-07 13:41:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000400225" "00398980" "1" "04188" "04188" "2022-01-15 13:44:48" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000400227" "00398982" "1" "04188" "04188" "2022-01-15 15:16:02" "" "" "SEQ" "DNA" "" "" "0000400369" "00399124" "1" "04188" "04188" "2022-01-15 23:50:44" "" "" "SEQ" "DNA" "" "" "0000400370" "00399125" "1" "04188" "04188" "2022-01-15 23:54:58" "" "" "SEQ" "DNA" "" "" "0000401462" "00400218" "1" "04188" "04188" "2022-01-26 12:34:56" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000401463" "00400219" "1" "04188" "04188" "2022-01-26 12:48:29" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000401464" "00400220" "1" "04188" "04188" "2022-01-26 12:53:03" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000401465" "00400221" "1" "04188" "04188" "2022-01-26 13:05:39" "" "" "SEQ" "DNA" "" "" "0000401466" "00400222" "1" "04188" "04188" "2022-01-26 13:15:48" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000401467" "00400223" "1" "04188" "04188" "2022-01-26 13:26:13" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000401468" "00400224" "1" "04188" "04188" "2022-01-26 13:41:17" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000401538" "00400225" "1" "04188" "04188" "2022-01-26 14:11:59" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000405003" "00403765" "1" "00435" "00435" "2022-02-22 00:25:11" "" "" "SEQ" "DNA" "blood" "" "0000405005" "00403768" "1" "00435" "00435" "2022-02-22 01:07:56" "" "" "SEQ" "DNA" "blood" "" "0000405006" "00403769" "1" "00435" "00435" "2022-02-22 02:11:01" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 99 "{{screeningid}}" "{{geneid}}" "0000035994" "GDAP1" "0000104127" "GDAP1" "0000104128" "GDAP1" "0000104129" "GDAP1" "0000104130" "GDAP1" "0000104131" "GDAP1" "0000104132" "GDAP1" "0000104133" "GDAP1" "0000104134" "GDAP1" "0000104135" "GDAP1" "0000104136" "GDAP1" "0000104137" "GDAP1" "0000104138" "GDAP1" "0000104139" "GDAP1" "0000104140" "GDAP1" "0000104141" "GDAP1" "0000104142" "GDAP1" "0000104143" "GDAP1" "0000104144" "GDAP1" "0000104145" "GDAP1" "0000104146" "GDAP1" "0000104147" "GDAP1" "0000104148" "GDAP1" "0000104149" "GDAP1" "0000104150" "GDAP1" "0000104151" "GDAP1" "0000104152" "GDAP1" "0000104153" "GDAP1" "0000104154" "GDAP1" "0000104155" "GDAP1" "0000104156" "GDAP1" "0000104157" "GDAP1" "0000104158" "GDAP1" "0000104159" "GDAP1" "0000104160" "GDAP1" "0000104161" "GDAP1" "0000104162" "GDAP1" "0000104163" "GDAP1" "0000104164" "GDAP1" "0000104165" "GDAP1" "0000104166" "GDAP1" "0000104167" "GDAP1" "0000104168" "GDAP1" "0000104169" "GDAP1" "0000104170" "GDAP1" "0000104171" "GDAP1" "0000104172" "GDAP1" "0000104173" "GDAP1" "0000104174" "GDAP1" "0000104175" "GDAP1" "0000104176" "GDAP1" "0000104177" "GDAP1" "0000104178" "GDAP1" "0000104179" "GDAP1" "0000104180" "GDAP1" "0000104181" "GDAP1" "0000104182" "GDAP1" "0000220127" "GDAP1" "0000220128" "GDAP1" "0000265023" "GDAP1" "0000265024" "GDAP1" "0000265025" "GDAP1" "0000265026" "GDAP1" "0000265027" "GDAP1" "0000301108" "GDAP1" "0000301109" "GDAP1" "0000301110" "GDAP1" "0000301169" "GDAP1" "0000301170" "GDAP1" "0000301171" "GDAP1" "0000301221" "GDAP1" "0000301229" "GDAP1" "0000301232" "GDAP1" "0000301238" "GDAP1" "0000301243" "GDAP1" "0000301243" "SH3TC2" "0000325834" "GDAP1" "0000375516" "GDAP1" "0000375517" "GDAP1" "0000375518" "GDAP1" "0000375519" "GDAP1" "0000375914" "DYNC1H1" "0000399870" "GDAP1" "0000400225" "GDAP1" "0000400227" "GDAP1" "0000400369" "GDAP1" "0000400370" "GDAP1" "0000401462" "GDAP1" "0000401463" "GDAP1" "0000401464" "GDAP1" "0000401465" "GDAP1" "0000401466" "GDAP1" "0000401467" "GDAP1" "0000401468" "GDAP1" "0000401538" "GDAP1" "0000401538" "MFN2" "0000405003" "GDAP1" "0000405005" "GDAP1" "0000405006" "GDAP1" ## 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 = 159 "{{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}}" "0000063119" "1" "10" "8" "75276582" "75276582" "subst" "0" "01164" "GDAP1_000056" "g.75276582C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74364347C>T" "" "benign" "" "0000168772" "0" "90" "8" "75262797" "75262797" "subst" "0" "00006" "GDAP1_000004" "g.75262797C>G" "" "{PMID:Crimella 2010:20685671}" "" "" "" "Germline" "" "" "0" "" "" "g.74350562C>G" "" "pathogenic" "" "0000168773" "0" "90" "8" "75263563" "75263564" "delins" "0" "00006" "GDAP1_000005" "g.75263563_75263564delinsTTA" "" "{PMID:Sevilla 2008:18812441}" "" "172_173delCTinsTTA" "" "Germline" "" "" "0" "" "" "g.74351328_74351329delinsTTA" "" "pathogenic" "" "0000168774" "0" "90" "8" "75263565" "75263567" "delins" "0" "00006" "GDAP1_000006" "g.75263565_75263567delinsTGTG" "" "{PMID:Auer-Grumbach 2008:18504680}" "" "174_176delGCCinsTGTG" "" "Germline" "" "" "0" "" "" "g.74351330_74351332delinsTGTG" "" "pathogenic" "" "0000168775" "0" "90" "8" "75263624" "75263624" "subst" "0" "00006" "GDAP1_000007" "g.75263624C>T" "" "{PMID:Bouhouche 2007:18062449}" "" "" "" "Germline" "" "" "0" "" "" "g.74351389C>T" "" "pathogenic" "" "0000168776" "0" "90" "8" "75262723" "75262724" "del" "0" "00006" "GDAP1_000008" "g.75262723_75262724del" "" "{PMID:Crimella 2010:20685671}" "" "27_28delAG" "" "Germline" "" "" "0" "" "" "g.74350488_74350489del" "" "pathogenic" "" "0000168777" "0" "90" "8" "75263686" "75263686" "subst" "0" "00006" "GDAP1_000009" "g.75263686C>T" "" "{PMID:Moroni 2009:19500985}" "" "" "" "Germline" "" "" "0" "" "" "g.74351451C>T" "" "pathogenic" "" "0000168778" "0" "90" "8" "75272393" "75272393" "subst" "0" "00006" "GDAP1_000010" "g.75272393C>A" "" "{PMID:Chung 2011:21692914}" "" "" "" "Germline" "" "" "0" "" "" "g.74360158C>A" "" "pathogenic" "" "0000168779" "0" "90" "8" "75272402" "75272405" "del" "0" "00006" "GDAP1_000011" "g.75272402_75272405del" "" "{PMID:Ammar 2003:14561495}" "" "341_344delAAAG" "" "Germline" "" "" "0" "" "" "g.74360167_74360170del" "" "pathogenic" "" "0000168780" "0" "90" "8" "75272408" "75272408" "subst" "0" "00006" "GDAP1_000012" "g.75272408T>C" "" "{PMID:Kabzinska 2006:16343542}" "" "" "" "Germline" "" "" "0" "" "" "g.74360173T>C" "" "pathogenic" "" "0000168781" "0" "90" "8" "75272408" "75272408" "subst" "8.12249E-6" "00006" "GDAP1_000013" "g.75272408T>G" "" "{PMID:Di Maria 2004:15377708}" "" "" "" "Germline" "" "" "0" "" "" "g.74360173T>G" "" "pathogenic" "" "0000168782" "0" "90" "8" "75272410" "75272410" "dup" "0" "00006" "GDAP1_000014" "g.75272410dup" "" "{PMID:Senderek 2003:12566285}" "" "" "" "Germline" "" "" "0" "" "" "g.74360175dup" "" "pathogenic" "" "0000168783" "0" "90" "8" "75272419" "75272419" "subst" "0" "00006" "GDAP1_000015" "g.75272419C>T" "" "{PMID:Ammar 2003:14561495}" "" "" "" "Germline" "" "" "0" "" "" "g.74360184C>T" "" "pathogenic" "" "0000168784" "0" "90" "8" "75272420" "75272420" "subst" "4.06124E-6" "00006" "GDAP1_000016" "g.75272420G>A" "" "{PMID:Boerkoel 2003:12601710}" "" "" "" "Germline" "" "" "0" "" "" "g.74360185G>A" "" "pathogenic" "" "0000168785" "0" "90" "8" "75272425" "75272425" "subst" "0" "00006" "GDAP1_000017" "g.75272425C>A" "" "{PMID:Moroni 2009:19500985}" "" "" "" "Germline" "" "" "0" "" "" "g.74360190C>A" "" "pathogenic" "" "0000168786" "0" "90" "8" "75272429" "75272429" "subst" "0" "00006" "GDAP1_000018" "g.75272429A>G" "" "{PMID:Zimon 2011:21753178}" "" "" "" "Germline" "" "" "0" "" "" "g.74360194A>G" "" "pathogenic" "" "0000168787" "0" "90" "8" "75272434" "75272434" "subst" "1.62442E-5" "00006" "GDAP1_000019" "g.75272434C>T" "" "{PMID:Moroni 2009:19500985}" "" "" "" "Germline" "" "" "0" "" "" "g.74360199C>T" "" "pathogenic" "" "0000168788" "0" "90" "8" "75272450" "75272450" "subst" "0" "00006" "GDAP1_000020" "g.75272450C>G" "" "{PMID:Kabzinska 2005:15944907}" "" "" "" "Germline" "" "" "0" "" "" "g.74360215C>G" "" "pathogenic" "" "0000168789" "0" "90" "8" "75272500" "75272500" "del" "0" "00006" "GDAP1_000021" "g.75272500del" "" "{PMID:Georgiou 2006:17001820}" "" "" "" "Germline" "" "" "0" "" "" "g.74360265del" "" "pathogenic" "" "0000168790" "0" "90" "8" "75272506" "75272506" "subst" "4.06091E-6" "00006" "GDAP1_000022" "g.75272506G>T" "" "{PMID:Parman 2004:15469949}" "" "" "" "Germline" "" "" "0" "" "" "g.74360271G>T" "" "pathogenic" "" "0000168791" "0" "90" "8" "75272519" "75272519" "subst" "1.62437E-5" "00006" "GDAP1_000023" "g.75272519C>T" "" "{PMID:Kabzinska 2007:18421898}" "" "" "" "Germline" "" "" "0" "" "" "g.74360284C>T" "" "pathogenic" "" "0000168792" "0" "90" "8" "75272528" "75272528" "subst" "0" "00006" "GDAP1_000024" "g.75272528C>G" "" "{PMID:Zimon 2011:21753178}" "" "" "" "Germline" "" "" "0" "" "" "g.74360293C>G" "" "pathogenic" "" "0000168793" "0" "90" "8" "75272530" "75272530" "subst" "0" "00006" "GDAP1_000025" "g.75272530A>C" "" "{PMID:Claramunt 2005:15805163}" "" "" "" "Germline" "" "" "0" "" "" "g.74360295A>C" "" "pathogenic" "" "0000168794" "3" "90" "8" "75272543" "75272543" "subst" "0" "00006" "GDAP1_000026" "g.75272543G>A" "" "{PMID:Baxter 2002:11743579}, {OMIM606598:0003}" "" "" "" "Germline" "yes" "rs104894076" "0" "" "" "g.74360308G>A" "" "pathogenic" "" "0000168795" "3" "90" "8" "75274121" "75274121" "subst" "6.91242E-5" "00006" "GDAP1_000027" "g.75274121C>T" "" "{PMID:Cuesta 2002:11743580}, {OMIM606598:0004}" "" "" "" "Germline" "yes" "rs104894077" "0" "" "" "g.74361886C>T" "" "pathogenic" "" "0000168796" "0" "90" "8" "75274167" "75274167" "subst" "0" "00006" "GDAP1_000028" "g.75274167A>G" "" "{PMID:Zhang 2004:15192818}" "" "" "" "Germline" "" "" "0" "" "" "g.74361932A>G" "" "pathogenic" "" "0000168797" "0" "90" "8" "75274192" "75274192" "del" "0" "00006" "GDAP1_000029" "g.75274192del" "" "{PMID:Stojkovic 2004:15019704}" "" "" "" "Germline" "" "" "0" "" "" "g.74361957del" "" "pathogenic" "" "0000168798" "0" "90" "8" "75274205" "75274205" "subst" "0" "00006" "GDAP1_000030" "g.75274205C>T" "" "{PMID:Barankova 2007:17433678}" "" "" "" "Germline" "" "" "0" "" "" "g.74361970C>T" "" "pathogenic" "" "0000168799" "3" "90" "8" "75275175" "75275175" "subst" "4.06425E-6" "00006" "GDAP1_000031" "g.75275175C>G" "" "{PMID:Baxter 2002:11743579}, {OMIM606598:0002}" "" "" "" "Germline" "yes" "rs104894075" "0" "" "" "g.74362940C>G" "" "pathogenic" "" "0000168800" "0" "90" "8" "75275246" "75275246" "subst" "0" "00006" "GDAP1_000032" "g.75275246C>G" "" "{PMID:Chung 2008:18231710}" "" "" "" "Germline" "" "" "0" "" "" "g.74363011C>G" "" "pathogenic" "" "0000168801" "0" "90" "8" "75275250" "75275250" "subst" "0" "00006" "GDAP1_000033" "g.75275250T>A" "" "{PMID:Moroni 2009:19500985}" "" "" "" "Germline" "" "" "0" "" "" "g.74363015T>A" "" "pathogenic" "" "0000168802" "0" "90" "8" "75275250" "75275250" "subst" "0" "00006" "GDAP1_000034" "g.75275250T>G" "" "{PMID:Chung 2011:21692914}" "" "" "" "Germline" "" "" "0" "" "" "g.74363015T>G" "" "pathogenic" "" "0000168803" "0" "90" "8" "75275262" "75275262" "subst" "4.06676E-6" "00006" "GDAP1_000035" "g.75275262T>A" "" "{PMID:De Sandre-Giovannoli 2003:12843336}" "" "" "" "Germline" "" "" "0" "" "" "g.74363027T>A" "" "pathogenic" "" "0000168804" "0" "90" "8" "75275272" "75275272" "subst" "0" "00006" "GDAP1_000036" "g.75275272A>T" "" "{PMID:Crimella 2010:20685671}" "" "" "" "Germline" "" "" "0" "" "" "g.74363037A>T" "" "pathogenic" "" "0000168805" "0" "90" "8" "75275273" "75275273" "subst" "0" "00006" "GDAP1_000037" "g.75275273A>G" "" "{PMID:Kabzinska 2010:20232219}" "" "" "" "Germline" "" "" "0" "" "" "g.74363038A>G" "" "pathogenic" "" "0000168806" "0" "90" "8" "75275286" "75275286" "subst" "1.62921E-5" "00006" "GDAP1_000038" "g.75275286C>T" "" "{PMID:Xin 2008:18492089}" "" "" "" "Germline" "" "" "0" "" "" "g.74363051C>T" "" "pathogenic" "" "0000168807" "0" "90" "8" "75276240" "75276240" "subst" "2.84296E-5" "00006" "GDAP1_000039" "g.75276240C>T" "" "{PMID:Ammar 2003:14561495}" "" "" "" "Germline" "" "" "0" "" "" "g.74364005C>T" "" "pathogenic" "" "0000168808" "0" "90" "8" "75276244" "75276244" "subst" "0" "00006" "GDAP1_000040" "g.75276244G>A" "" "{PMID:Cassereau 2009:19089472}" "" "" "" "Germline" "" "" "0" "" "" "g.74364009G>A" "" "pathogenic" "" "0000168809" "0" "90" "8" "75276265" "75276265" "subst" "0" "00006" "GDAP1_000041" "g.75276265C>T" "" "{PMID:Abe 2011:21326314}" "" "" "" "Germline" "" "" "0" "" "" "g.74364030C>T" "" "pathogenic" "" "0000168810" "0" "90" "8" "75276292" "75276292" "subst" "1.21829E-5" "00006" "GDAP1_000042" "g.75276292A>G" "" "{PMID:Zhang 2004:15192818}" "" "" "" "Germline" "" "" "0" "" "" "g.74364057A>G" "" "pathogenic" "" "0000168811" "0" "90" "8" "75276294" "75276294" "subst" "1.2183E-5" "00006" "GDAP1_000043" "g.75276294C>T" "" "{PMID:Shagina 2010:21322820}" "" "" "" "Germline" "" "" "0" "" "" "g.74364059C>T" "" "pathogenic" "" "0000168812" "3" "90" "8" "75276311" "75276311" "del" "0" "00006" "GDAP1_000044" "g.75276311del" "" "{PMID:Nelis 2002:12499475}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74364076del" "" "pathogenic" "" "0000168813" "0" "90" "8" "75276336" "75276336" "subst" "4.46686E-5" "00006" "GDAP1_000045" "g.75276336G>A" "" "{PMID:Ammar 2003:14561495}" "" "" "" "Germline" "" "" "0" "" "" "g.74364101G>A" "" "pathogenic" "" "0000168814" "0" "90" "8" "75276342" "75276342" "subst" "0" "00006" "GDAP1_000046" "g.75276342C>G" "" "{PMID:Kabzinska 2010:20232219}" "" "" "" "Germline" "" "" "0" "" "" "g.74364107C>G" "" "pathogenic" "" "0000168815" "0" "90" "8" "75276346" "75276346" "subst" "0" "00006" "GDAP1_000047" "g.75276346C>T" "" "{PMID:Zimon 2011:21753178}" "" "" "" "Germline" "" "" "0" "" "" "g.74364111C>T" "" "pathogenic" "" "0000168816" "0" "90" "8" "75276361" "75276361" "subst" "0" "00006" "GDAP1_000048" "g.75276361A>G" "" "{PMID:Rougeot 2008:18991200}" "" "" "" "Germline" "" "" "0" "" "" "g.74364126A>G" "" "pathogenic" "" "0000168817" "3" "90" "8" "75276369" "75276369" "subst" "8.12137E-6" "00006" "GDAP1_000049" "g.75276369C>T" "" "{PMID:Nelis 2002:12499475}, {OMIM606598:0006}" "" "" "" "Germline" "yes" "rs28937906" "0" "" "" "g.74364134C>T" "" "pathogenic" "" "0000168818" "0" "90" "8" "75276370" "75276370" "subst" "8.12143E-6" "00006" "GDAP1_000050" "g.75276370G>A" "" "{PMID:Abe 2011:21326314}" "" "" "" "Germline" "" "" "0" "" "" "g.74364135G>A" "" "pathogenic" "" "0000168819" "1" "90" "8" "75276387" "75276387" "dup" "0" "00006" "GDAP1_000051" "g.75276387dup" "" "{PMID:Cuesta 2002:11743580}, {OMIM606598:0005}" "" "863insA" "" "Germline" "" "" "0" "" "" "g.74364152dup" "" "pathogenic" "" "0000168820" "0" "90" "8" "75276416" "75276416" "subst" "0" "00006" "GDAP1_000052" "g.75276416C>G" "" "{PMID:Moroni 2009:19500985}" "" "" "" "Germline" "" "" "0" "" "" "g.74364181C>G" "" "pathogenic" "" "0000168821" "0" "90" "8" "75276454" "75276454" "subst" "4.06154E-6" "00006" "GDAP1_000053" "g.75276454G>A" "" "{PMID:Azzedine 2003:12868504}" "" "" "" "Germline" "" "" "0" "" "" "g.74364219G>A" "" "pathogenic" "" "0000168822" "3" "90" "8" "75262788" "75262788" "subst" "0" "00006" "GDAP1_000054" "g.75262788G>A" "" "{PMID:Baxter 2002:11743579}, {OMIM606598:0001}" "" "" "shared haplotype with family DUK1405" "Germline" "yes" "rs121908112" "0" "" "" "g.74350553G>A" "" "pathogenic" "" "0000168823" "0" "90" "8" "75276505" "75276505" "subst" "0" "00006" "GDAP1_000055" "g.75276505G>A" "" "{PMID:Kabzinska 2011:21365284}" "" "" "" "Germline" "" "" "0" "" "" "g.74364270G>A" "" "pathogenic" "" "0000168824" "2" "90" "8" "75274121" "75274121" "subst" "6.91242E-5" "00006" "GDAP1_000027" "g.75274121C>T" "" "{PMID:Cuesta 2002:11743580}, {OMIM606598:0004}" "" "" "" "Germline" "" "rs104894077" "0" "" "" "g.74361886C>T" "" "pathogenic" "" "0000168825" "1" "90" "8" "75275175" "75275175" "subst" "4.06425E-6" "00006" "GDAP1_000031" "g.75275175C>G" "" "{PMID:Cuesta 2002:11743580}, {OMIM606598:0002}" "" "" "" "Germline" "" "rs104894075" "0" "" "" "g.74362940C>G" "" "pathogenic" "" "0000168826" "2" "90" "8" "75274121" "75274121" "subst" "6.91242E-5" "00006" "GDAP1_000027" "g.75274121C>T" "" "{PMID:Cuesta 2002:11743580}, {OMIM606598:0004}" "" "" "" "Germline" "" "rs104894077" "0" "" "" "g.74361886C>T" "" "pathogenic" "" "0000168827" "3" "90" "8" "75262788" "75262788" "subst" "0" "00006" "GDAP1_000054" "g.75262788G>A" "" "{PMID:Baxter 2002:11743579}, {OMIM606598:0001}" "" "" "shared haplotype with family DUK1404" "Germline" "yes" "rs121908112" "0" "" "" "g.74350553G>A" "" "pathogenic" "" "0000168828" "3" "90" "8" "75275175" "75275175" "subst" "4.06425E-6" "00006" "GDAP1_000031" "g.75275175C>G" "" "{PMID:Nelis 2002:12499475}, {OMIM606598:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74362940C>G" "" "pathogenic" "" "0000168829" "3" "90" "8" "75276311" "75276311" "del" "0" "00006" "GDAP1_000044" "g.75276311del" "" "{PMID:Nelis 2002:12499475}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74364076del" "" "pathogenic" "" "0000246758" "0" "90" "8" "75272530" "75272530" "subst" "0" "02330" "GDAP1_000025" "g.75272530A>C" "" "" "" "GDAP1(NM_018972.2):c.469A>C (p.T157P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360295A>C" "" "pathogenic" "" "0000246759" "0" "90" "8" "75274117" "75274117" "subst" "0" "02330" "GDAP1_000065" "g.75274117A>G" "" "" "" "GDAP1(NM_018972.2):c.485-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361882A>G" "" "pathogenic" "" "0000277032" "0" "10" "8" "75262798" "75262798" "subst" "0.997429" "02330" "GDAP1_000057" "g.75262798G>C" "" "" "" "GDAP1(NM_018972.2):c.102G>C (p.S34=), GDAP1(NM_018972.4):c.102G>C (p.S34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74350563=" "" "benign" "" "0000277033" "0" "90" "8" "75263624" "75263624" "subst" "0" "02330" "GDAP1_000007" "g.75263624C>T" "" "" "" "GDAP1(NM_018972.2):c.233C>T (p.P78L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74351389C>T" "" "pathogenic" "" "0000277034" "0" "30" "8" "75263637" "75263637" "subst" "4.06062E-6" "02330" "GDAP1_000058" "g.75263637C>T" "" "" "" "GDAP1(NM_018972.2):c.246C>T (p.H82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74351402C>T" "" "likely benign" "" "0000277035" "0" "90" "8" "75272371" "75272371" "subst" "4.06395E-6" "02330" "GDAP1_000059" "g.75272371G>A" "" "" "" "GDAP1(NM_018972.2):c.311-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360136G>A" "" "pathogenic" "" "0000277036" "0" "90" "8" "75272408" "75272408" "subst" "0" "02330" "GDAP1_000012" "g.75272408T>C" "" "" "" "GDAP1(NM_018972.2):c.347T>C (p.M116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360173T>C" "" "pathogenic" "" "0000277037" "0" "90" "8" "75272408" "75272408" "subst" "8.12249E-6" "02330" "GDAP1_000013" "g.75272408T>G" "" "" "" "GDAP1(NM_018972.2):c.347T>G (p.M116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360173T>G" "" "pathogenic" "" "0000277038" "0" "90" "8" "75272410" "75272410" "dup" "0" "02330" "GDAP1_000060" "g.75272410dup" "" "" "" "GDAP1(NM_018972.2):c.349dupT (p.Y117Lfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360175dup" "" "pathogenic" "" "0000277039" "0" "90" "8" "75272419" "75272419" "subst" "0" "02330" "GDAP1_000015" "g.75272419C>T" "" "" "" "GDAP1(NM_018972.2):c.358C>T (p.R120W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360184C>T" "" "pathogenic" "" "0000277040" "0" "90" "8" "75272420" "75272420" "subst" "4.06124E-6" "02330" "GDAP1_000016" "g.75272420G>A" "" "" "" "GDAP1(NM_018972.2):c.359G>A (p.R120Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360185G>A" "" "pathogenic" "" "0000277041" "0" "90" "8" "75272450" "75272450" "subst" "0" "02330" "GDAP1_000020" "g.75272450C>G" "" "" "" "GDAP1(NM_018972.2):c.389C>G (p.S130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360215C>G" "" "pathogenic" "" "0000277042" "0" "90" "8" "75272506" "75272506" "subst" "4.06091E-6" "02330" "GDAP1_000022" "g.75272506G>T" "" "" "" "GDAP1(NM_018972.2):c.445G>T (p.D149Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360271G>T" "" "pathogenic" "" "0000277043" "0" "90" "8" "75272519" "75272519" "subst" "1.62437E-5" "02330" "GDAP1_000023" "g.75272519C>T" "" "" "" "GDAP1(NM_018972.2):c.458C>T (p.P153L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360284C>T" "" "pathogenic" "" "0000277044" "0" "90" "8" "75272543" "75272543" "subst" "0" "02330" "GDAP1_000026" "g.75272543G>A" "" "" "" "GDAP1(NM_018972.2):c.482G>A (p.R161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360308G>A" "" "pathogenic" "" "0000277045" "0" "10" "8" "75274099" "75274099" "subst" "0.0108404" "02330" "GDAP1_000064" "g.75274099C>G" "" "" "" "GDAP1(NM_018972.2):c.485-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361864C>G" "" "benign" "" "0000277046" "0" "90" "8" "75274121" "75274121" "subst" "6.91242E-5" "02330" "GDAP1_000027" "g.75274121C>T" "" "" "" "GDAP1(NM_018972.2):c.487C>T (p.Q163*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361886C>T" "" "pathogenic" "" "0000277047" "0" "10" "8" "75274141" "75274141" "subst" "0.279289" "02330" "GDAP1_000066" "g.75274141T>G" "" "" "" "GDAP1(NM_018972.2):c.507T>G (p.S169=), GDAP1(NM_018972.4):c.507T>G (p.S169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361906T>G" "" "benign" "" "0000277048" "0" "90" "8" "75274205" "75274205" "subst" "0" "02330" "GDAP1_000030" "g.75274205C>T" "" "" "" "GDAP1(NM_018972.2):c.571C>T (p.R191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361970C>T" "" "pathogenic" "" "0000277049" "0" "90" "8" "75274214" "75274214" "subst" "4.12137E-6" "02330" "GDAP1_000067" "g.75274214G>A" "" "" "" "GDAP1(NM_018972.2):c.579+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361979G>A" "" "pathogenic" "" "0000277050" "0" "90" "8" "75275175" "75275175" "subst" "4.06425E-6" "02330" "GDAP1_000031" "g.75275175C>G" "" "" "" "GDAP1(NM_018972.2):c.581C>G (p.S194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74362940C>G" "" "pathogenic" "" "0000277051" "0" "90" "8" "75275262" "75275262" "subst" "4.06676E-6" "02330" "GDAP1_000035" "g.75275262T>A" "" "" "" "GDAP1(NM_018972.2):c.668T>A (p.L223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74363027T>A" "" "pathogenic" "" "0000277052" "0" "90" "8" "75276240" "75276240" "subst" "2.84296E-5" "02330" "GDAP1_000039" "g.75276240C>T" "" "" "" "GDAP1(NM_018972.2):c.715C>T (p.L239F), GDAP1(NM_018972.4):c.715C>T (p.(Leu239Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74364005C>T" "" "pathogenic" "" "0000277053" "0" "90" "8" "75276336" "75276336" "subst" "4.46686E-5" "02330" "GDAP1_000045" "g.75276336G>A" "" "" "" "GDAP1(NM_018972.2):c.811G>A (p.G271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74364101G>A" "" "pathogenic" "" "0000277054" "0" "90" "8" "75276369" "75276369" "subst" "8.12137E-6" "02330" "GDAP1_000049" "g.75276369C>T" "" "" "" "GDAP1(NM_018972.2):c.844C>T (p.R282C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74364134C>T" "" "pathogenic" "" "0000277055" "0" "90" "8" "75276389" "75276389" "dup" "0" "02330" "GDAP1_000068" "g.75276389dup" "" "" "" "GDAP1(NM_018972.2):c.864dupA (p.F289Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74364154dup" "" "pathogenic" "" "0000277056" "0" "90" "8" "75276454" "75276454" "subst" "4.06154E-6" "02330" "GDAP1_000053" "g.75276454G>A" "" "" "" "GDAP1(NM_018972.2):c.929G>A (p.R310Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74364219G>A" "" "pathogenic" "" "0000277057" "0" "90" "8" "75262788" "75262788" "subst" "0" "02330" "GDAP1_000054" "g.75262788G>A" "" "" "" "GDAP1(NM_018972.2):c.92G>A (p.W31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74350553G>A" "" "pathogenic" "" "0000281016" "0" "10" "8" "75262798" "75262798" "subst" "0.997429" "02325" "GDAP1_000057" "g.75262798G>C" "" "" "" "GDAP1(NM_018972.2):c.102G>C (p.S34=), GDAP1(NM_018972.4):c.102G>C (p.S34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74350563=" "" "benign" "" "0000281017" "0" "10" "8" "75274141" "75274141" "subst" "0.279289" "02325" "GDAP1_000066" "g.75274141T>G" "" "" "" "GDAP1(NM_018972.2):c.507T>G (p.S169=), GDAP1(NM_018972.4):c.507T>G (p.S169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74361906T>G" "" "benign" "" "0000342007" "0" "50" "8" "75272538" "75272538" "subst" "4.06134E-6" "02327" "GDAP1_000062" "g.75272538G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74360303G>T" "" "VUS" "" "0000348365" "0" "50" "8" "75276442" "75276442" "subst" "0" "02327" "GDAP1_000063" "g.75276442C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74364207C>T" "" "VUS" "" "0000348968" "0" "50" "8" "75262805" "75262805" "subst" "8.12493E-6" "02327" "GDAP1_000061" "g.75262805T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74350570T>A" "" "VUS" "" "0000455023" "3" "90" "8" "75275289" "75275289" "subst" "0" "00006" "GDAP1_000069" "g.75275289G>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.74363054G>C" "" "likely pathogenic" "ACMG" "0000455024" "3" "90" "8" "75276369" "75276369" "subst" "8.12137E-6" "00006" "GDAP1_000049" "g.75276369C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.74364134C>T" "" "pathogenic" "" "0000470538" "3" "90" "8" "75263545" "75263545" "subst" "0" "01807" "GDAP1_000070" "g.75263545G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.74351310G>T" "" "pathogenic" "" "0000535325" "0" "50" "8" "75263599" "75263599" "subst" "0" "02327" "GDAP1_000071" "g.75263599C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74351364C>T" "" "VUS" "" "0000535326" "0" "30" "8" "75263707" "75263707" "del" "0.000978792" "02330" "GDAP1_000072" "g.75263707del" "" "" "" "GDAP1(NM_018972.2):c.310+6delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74351472del" "" "likely benign" "" "0000535327" "0" "50" "8" "75272432" "75272432" "subst" "0" "02327" "GDAP1_000073" "g.75272432A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74360197A>G" "" "VUS" "" "0000535328" "0" "90" "8" "75274121" "75274121" "subst" "6.91242E-5" "02327" "GDAP1_000027" "g.75274121C>T" "" "" "" "GDAP1(NM_018972.2):c.487C>T (p.Q163*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74361886C>T" "" "pathogenic" "" "0000535329" "0" "70" "8" "75276370" "75276370" "subst" "8.12143E-6" "02330" "GDAP1_000050" "g.75276370G>A" "" "" "" "GDAP1(NM_018972.2):c.845G>A (p.R282H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74364135G>A" "" "likely pathogenic" "" "0000535330" "0" "50" "8" "75276490" "75276490" "subst" "0.000304635" "02330" "GDAP1_000075" "g.75276490C>T" "" "" "" "GDAP1(NM_018972.2):c.965C>T (p.T322M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74364255C>T" "" "VUS" "" "0000595606" "0" "50" "8" "75275175" "75275175" "subst" "4.06425E-6" "01364" "GDAP1_000031" "g.75275175C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74362940C>G" "" "VUS" "" "0000595607" "0" "70" "8" "75276369" "75276369" "subst" "8.12137E-6" "01364" "GDAP1_000049" "g.75276369C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74364134C>T" "" "likely pathogenic" "" "0000595608" "0" "50" "8" "75274121" "75274121" "subst" "6.91242E-5" "01364" "GDAP1_000027" "g.75274121C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74361886C>T" "" "VUS" "" "0000595609" "0" "50" "8" "75272419" "75272419" "subst" "0" "01364" "GDAP1_000015" "g.75272419C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74360184C>T" "" "VUS" "" "0000595610" "0" "50" "8" "75272530" "75272530" "subst" "0" "01364" "GDAP1_000025" "g.75272530A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74360295A>C" "" "VUS" "" "0000652523" "1" "90" "8" "75272434" "75272434" "subst" "1.62442E-5" "03575" "GDAP1_000019" "g.75272434C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs745663149}" "Germline" "" "rs745663149" "0" "" "" "g.74360199C>T" "" "pathogenic" "" "0000652524" "1" "90" "8" "75274214" "75274214" "subst" "4.12137E-6" "03575" "GDAP1_000067" "g.75274214G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININGDAP1-chr8-75274214}" "Germline" "" "" "0" "" "" "g.74361979G>A" "" "pathogenic" "" "0000656153" "0" "50" "8" "75275247" "75275247" "subst" "0" "02327" "GDAP1_000076" "g.75275247A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74363012A>G" "" "VUS" "" "0000664003" "0" "90" "8" "75272419" "75272419" "subst" "0" "00006" "GDAP1_000015" "g.75272419C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs104894078" "0" "" "" "g.74360184C>T" "" "pathogenic" "" "0000664004" "0" "90" "8" "75272429" "75272429" "subst" "0" "00006" "GDAP1_000018" "g.75272429A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "clinical severity variable" "Germline" "" "rs397515442" "0" "" "" "g.74360194A>G" "" "pathogenic (dominant)" "" "0000664005" "0" "90" "8" "75276369" "75276369" "subst" "8.12137E-6" "00006" "GDAP1_000049" "g.75276369C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs28937906" "0" "" "" "g.74364134C>T" "" "pathogenic (recessive)" "" "0000664064" "3" "70" "8" "75263701" "75263701" "subst" "0" "00006" "GDAP1_000077" "g.75263701G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "proband appears homozygous, asymptomatic heterozygous parent" "Germline" "" "" "0" "" "" "g.74351466G>A" "" "likely pathogenic" "" "0000664065" "0" "70" "8" "75272460" "75272460" "subst" "0.000105582" "00006" "GDAP1_000078" "g.75272460G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs139808557" "0" "" "" "g.74360225G>A" "" "likely pathogenic" "" "0000664066" "0" "70" "8" "75276239" "75276239" "subst" "0" "00006" "GDAP1_000080" "g.75276239G>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.74364004G>C" "" "likely pathogenic" "" "0000664116" "3" "70" "8" "75263701" "75263701" "subst" "0" "00006" "GDAP1_000077" "g.75263701G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "proband appears homozygous, asymptomatic heterozygous parent" "Germline" "" "" "0" "" "" "g.74351466G>A" "" "likely pathogenic" "" "0000664124" "0" "90" "8" "75272419" "75272419" "subst" "0" "00006" "GDAP1_000015" "g.75272419C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs104894078" "0" "" "" "g.74360184C>T" "" "pathogenic" "" "0000664127" "0" "90" "8" "75272429" "75272429" "subst" "0" "00006" "GDAP1_000018" "g.75272429A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "clinical severity variable" "Germline" "" "rs397515442" "0" "" "" "g.74360194A>G" "" "pathogenic (dominant)" "" "0000664133" "0" "90" "8" "75276369" "75276369" "subst" "8.12137E-6" "00006" "GDAP1_000049" "g.75276369C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs28937906" "0" "" "" "g.74364134C>T" "" "pathogenic (recessive)" "" "0000664138" "0" "70" "8" "75274135" "75274135" "dup" "0" "00006" "GDAP1_000079" "g.75274135dup" "" "{PMID:Antoniadi 2015:26392352}" "" "c.501dupA" "" "Germline" "" "" "0" "" "" "g.74361900dup" "" "likely pathogenic" "" "0000708994" "11" "90" "8" "75276292" "75276292" "subst" "1.21829E-5" "00006" "GDAP1_000042" "g.75276292A>G" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "" "0" "" "" "g.74364057A>G" "" "pathogenic (recessive)" "" "0000709006" "21" "90" "8" "75276370" "75276370" "subst" "8.12143E-6" "00006" "GDAP1_000050" "g.75276370G>A" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "" "0" "" "" "g.74364135G>A" "" "pathogenic (recessive)" "" "0000722091" "0" "90" "8" "75272419" "75272419" "subst" "0" "02327" "GDAP1_000015" "g.75272419C>T" "" "" "" "GDAP1(NM_018972.2):c.358C>T (p.R120W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000786867" "3" "70" "8" "75263519" "75263519" "dup" "0" "00006" "GDAP1_000081" "g.75263519dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.128dupT" "" "Germline" "" "" "0" "" "" "g.74351284dup" "" "likely pathogenic" "" "0000786868" "1" "90" "8" "75272419" "75272419" "subst" "0" "00006" "GDAP1_000015" "g.75272419C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.74360184C>T" "" "pathogenic" "" "0000786869" "3" "90" "8" "75276294" "75276294" "subst" "1.2183E-5" "00006" "GDAP1_000043" "g.75276294C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.74364059C>T" "" "pathogenic" "" "0000786870" "0" "70" "8" "75276327" "75276328" "del" "0" "00006" "GDAP1_000083" "g.75276327_75276328del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.802_803delTG" "" "Germline" "" "rs765346218" "0" "" "" "g.74364092_74364093del" "" "likely pathogenic" "" "0000787479" "2" "50" "8" "75276391" "75276391" "subst" "0" "00000" "GDAP1_000084" "g.75276391T>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.74364156T>C" "" "VUS" "" "0000787589" "0" "50" "8" "75275279" "75275279" "subst" "0" "00000" "GDAP1_000082" "g.75275279G>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.74363044G>A" "" "VUS" "" "0000832518" "0" "90" "8" "75263531" "75263531" "del" "0" "04188" "GDAP1_000085" "g.75263531del" "" "{PMID:Ferese 2021:34354735}" "" "140delA" "ACMG: PVS1-PM1-PM2, sister not available" "Germline/De novo (untested)" "" "" "" "" "" "g.74351296del" "SCV001424519" "pathogenic (dominant)" "ACMG" "0000833032" "0" "70" "8" "75263637" "75263637" "subst" "0" "04188" "GDAP1_000086" "g.75263637C>G" "" "{PMID:Xue H 2021:34470922}" "" "" "" "Unknown" "" "" "" "" "" "g.74351402C>G" "" "likely pathogenic (recessive)" "" "0000833033" "0" "70" "8" "75275208" "75275208" "subst" "0" "04188" "GDAP1_000087" "g.75275208T>G" "" "{PMID:Xue H 2021:34470922}" "" "" "Unaffected carrier mother" "Germline" "" "" "" "" "" "g.74362973T>G" "" "likely pathogenic (maternal)" "" "0000833212" "3" "90" "8" "75275261" "75275265" "dup" "0" "04188" "GDAP1_000088" "g.75275261_75275265dup" "" "{PMID:Mai PT 2019:31179332}" "" "c.667_671dupTTGCA" "" "Germline" "" "" "" "" "" "g.74363026_74363030dup" "" "pathogenic (recessive)" "" "0000833213" "3" "90" "8" "75275261" "75275265" "dup" "0" "04188" "GDAP1_000088" "g.75275261_75275265dup" "" "{PMID:Mai PT 2019:31179332}" "" "c.667_671dupTTGCA" "" "Germline" "" "" "" "" "" "g.74363026_74363030dup" "" "pathogenic (recessive)" "" "0000833214" "3" "90" "8" "75275261" "75275265" "dup" "0" "04188" "GDAP1_000088" "g.75275261_75275265dup" "" "{PMID:Mai PT 2019:31179332}" "" "c.667_671dupTTGCA" "" "Germline" "" "" "" "" "" "g.74363026_74363030dup" "" "pathogenic (recessive)" "" "0000834718" "3" "70" "8" "75272349" "75272349" "subst" "0" "04188" "GDAP1_000091" "g.75272349A>G" "" "{PMID:Khani M 2020:32897397}" "" "" "" "Germline" "" "" "0" "" "" "g.74360114A>G" "" "likely pathogenic (recessive)" "" "0000834719" "3" "70" "8" "75272349" "75272349" "subst" "0" "04188" "GDAP1_000091" "g.75272349A>G" "" "{PMID:Khani M 2020:32897397}" "" "" "" "Germline" "" "" "0" "" "" "g.74360114A>G" "" "likely pathogenic (recessive)" "" "0000834720" "3" "70" "8" "75272349" "75272349" "subst" "0" "04188" "GDAP1_000091" "g.75272349A>G" "" "{PMID:Khani M 2020:32897397}" "" "" "" "Germline" "" "" "0" "" "" "g.74360114A>G" "" "likely pathogenic (recessive)" "" "0000834721" "3" "70" "8" "75263609" "75263609" "subst" "4.06055E-6" "04188" "GDAP1_000090" "g.75263609C>G" "" "{PMID:Jiang H 2021:33653295}" "" "" "" "Germline" "" "" "0" "" "" "g.74351374C>G" "" "pathogenic (recessive)" "" "0000834722" "3" "90" "8" "75275289" "75275289" "subst" "0" "04188" "GDAP1_000093" "g.75275289G>A" "" "{PMID:Chen C. 2020:33136338}" "" "" "ACMG: PVS1-PM2-PP1" "Germline" "" "" "0" "" "" "g.74363054G>A" "" "pathogenic (recessive)" "ACMG" "0000834723" "0" "70" "8" "75262773" "75262773" "subst" "4.06227E-6" "04188" "GDAP1_000089" "g.75262773T>G" "" "{PMID:Chen C. 2020:33136338}" "" "c.T77G" "ACMG: PM1-PM2-PM3-PP1" "Germline" "" "" "0" "" "" "g.74350538T>G" "" "likely pathogenic" "ACMG" "0000834724" "0" "90" "8" "75274140" "75274146" "del" "0" "04188" "GDAP1_000092" "g.75274140_75274146del" "" "{PMID:Chen C. 2020:33136338}" "" "c.505_511del" "ACMG: PVS1-PM1-PM2-PP1-PP3" "Germline" "" "" "0" "" "" "g.74361905_74361911del" "" "pathogenic" "ACMG" "0000834725" "0" "50" "8" "75272419" "75272419" "subst" "0" "04188" "GDAP1_000015" "g.75272419C>T" "" "{PMID:Chen C. 2020:33136338}" "" "c.C358T" "Daughter carried the same variant, but had no symptoms" "Unknown" "" "" "0" "" "" "g.74360184C>T" "" "VUS" "ACMG" "0000834861" "11" "90" "8" "75274121" "75274121" "subst" "6.91242E-5" "04188" "GDAP1_000027" "g.75274121C>T" "" "{PMID:Fierro 2020:33187793}" "" "" "father/brother unaffected carriers" "Germline" "" "" "0" "" "" "g.74361886C>T" "" "pathogenic (recessive)" "ACMG" "0000840991" "3" "90" "8" "75272468" "75272468" "subst" "0" "00435" "GDAP1_000095" "g.75272468A>C" "" "" "" "g.44104A>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840992" "0" "90" "8" "75276237" "75276237" "subst" "0" "00435" "GDAP1_000094" "g.75276237T>G" "" "" "" "" "" "Unknown" "-" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000840993" "3" "90" "8" "75272468" "75272468" "subst" "0" "00435" "GDAP1_000095" "g.75272468A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000851996" "0" "10" "8" "75262841" "75262841" "subst" "0.99556" "02326" "GDAP1_000096" "g.75262841G>A" "" "" "" "GDAP1(NM_018972.2):c.117+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851997" "0" "10" "8" "75272287" "75272287" "subst" "0" "02326" "GDAP1_000097" "g.75272287T>C" "" "" "" "GDAP1(NM_018972.2):c.311-85T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851998" "0" "10" "8" "75275312" "75275312" "subst" "0.997419" "02326" "GDAP1_000098" "g.75275312C>T" "" "" "" "GDAP1(NM_018972.2):c.694+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851999" "0" "10" "8" "75279544" "75279544" "subst" "0" "02326" "GDAP1_000099" "g.75279544T>G" "" "" "" "GDAP1(NM_001362931.2):c.694+4256T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861287" "0" "90" "8" "75274214" "75274214" "subst" "4.12137E-6" "02329" "GDAP1_000067" "g.75274214G>A" "" "" "" "GDAP1(NM_018972.2):c.579+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888455" "0" "70" "8" "75263679" "75263679" "subst" "0" "02330" "GDAP1_000100" "g.75263679T>G" "" "" "" "GDAP1(NM_018972.2):c.288T>G (p.Y96*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888456" "0" "30" "8" "75275287" "75275287" "subst" "8.55098E-5" "02330" "GDAP1_000101" "g.75275287A>T" "" "" "" "GDAP1(NM_018972.2):c.693A>T (p.P231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888457" "0" "50" "8" "75276531" "75276531" "subst" "8.52917E-5" "02325" "GDAP1_000102" "g.75276531G>T" "" "" "" "GDAP1(NM_018972.4):c.1006G>T (p.A336S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978281" "0" "70" "8" "75276240" "75276240" "subst" "2.84296E-5" "01804" "GDAP1_000039" "g.75276240C>T" "" "" "" "GDAP1(NM_018972.2):c.715C>T (p.L239F), GDAP1(NM_018972.4):c.715C>T (p.(Leu239Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978282" "0" "90" "8" "75276294" "75276294" "subst" "1.2183E-5" "01804" "GDAP1_000043" "g.75276294C>T" "" "" "" "GDAP1(NM_018972.4):c.769C>T (p.(Arg257Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997314" "0" "50" "8" "75272446" "75272446" "subst" "8.12216E-6" "02330" "GDAP1_000103" "g.75272446G>A" "" "" "" "GDAP1(NM_018972.2):c.385G>A (p.D129N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997315" "0" "50" "8" "75272503" "75272503" "subst" "2.84264E-5" "01804" "GDAP1_000104" "g.75272503G>A" "" "" "" "GDAP1(NM_018972.2):c.442G>A (p.(Val148Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 GDAP1 ## Count = 159 "{{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}}" "0000063119" "00008426" "10" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Pro353Ser)" "6" "0000168772" "00008426" "90" "101" "0" "101" "0" "c.101C>G" "r.(?)" "p.(Ser34Cys)" "1" "0000168773" "00008426" "90" "172" "0" "173" "0" "c.172_173delinsTTA" "r.(?)" "p.(Pro59Alafs*4)" "2" "0000168774" "00008426" "90" "174" "0" "176" "0" "c.174_176delinsTGTG" "r.(?)" "p.(Pro59Valfs*4)" "2" "0000168775" "00008426" "90" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Pro78Leu)" "2" "0000168776" "00008426" "90" "27" "0" "28" "0" "c.27_28del" "r.(?)" "p.(Gly10Glufs*15)" "1" "0000168777" "00008426" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Gln99*)" "2" "0000168778" "00008426" "90" "332" "0" "332" "0" "c.332C>A" "r.(?)" "p.(Pro111His)" "3" "0000168779" "00008426" "90" "341" "0" "344" "0" "c.341_344del" "r.(?)" "p.(Glu114Alafs*32)" "3" "0000168780" "00008426" "90" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Met116Thr)" "3" "0000168781" "00008426" "90" "347" "0" "347" "0" "c.347T>G" "r.(?)" "p.(Met116Arg)" "3" "0000168782" "00008426" "90" "349" "0" "349" "0" "c.349dup" "r.(?)" "p.(Tyr117Leufs*13)" "3" "0000168783" "00008426" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "3" "0000168784" "00008426" "90" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120Gln)" "3" "0000168785" "00008426" "90" "364" "0" "364" "0" "c.364C>A" "r.(?)" "p.(Gln122Lys)" "3" "0000168786" "00008426" "90" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(His123Arg)" "3" "0000168787" "00008426" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125*)" "3" "0000168788" "00008426" "90" "389" "0" "389" "0" "c.389C>G" "r.(?)" "p.(Ser130Cys)" "3" "0000168789" "00008426" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Thr147Leufs*5)" "3" "0000168790" "00008426" "90" "445" "0" "445" "0" "c.445G>T" "r.(?)" "p.(Asp149Tyr)" "3" "0000168791" "00008426" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Pro153Leu)" "3" "0000168792" "00008426" "90" "467" "0" "467" "0" "c.467C>G" "r.(?)" "p.(Ala156Gly)" "3" "0000168793" "00008426" "90" "469" "0" "469" "0" "c.469A>C" "r.(?)" "p.(Thr157Pro)" "3" "0000168794" "00008426" "90" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "3" "0000168795" "00008426" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "4" "0000168796" "00008426" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asn178Ser)" "4" "0000168797" "00008426" "90" "558" "0" "558" "0" "c.558del" "r.(?)" "p.(Ile186Metfs*20)" "4" "0000168798" "00008426" "90" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191*)" "4" "0000168799" "00008426" "90" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Ser194*)" "5" "0000168800" "00008426" "90" "652" "0" "652" "0" "c.652C>G" "r.(?)" "p.(Gln218Glu)" "5" "0000168801" "00008426" "90" "656" "0" "656" "0" "c.656T>A" "r.(?)" "p.(Val219Asp)" "5" "0000168802" "00008426" "90" "656" "0" "656" "0" "c.656T>G" "r.(?)" "p.(Val219Gly)" "5" "0000168803" "00008426" "90" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Leu223*)" "5" "0000168804" "00008426" "90" "678" "0" "678" "0" "c.678A>T" "r.(?)" "p.(Arg226Ser)" "5" "0000168805" "00008426" "90" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Asn227Asp)" "5" "0000168806" "00008426" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Pro231Leu)" "5" "0000168807" "00008426" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Leu239Phe)" "6" "0000168808" "00008426" "90" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Cys240Tyr)" "6" "0000168809" "00008426" "90" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Ala247Val)" "6" "0000168810" "00008426" "90" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(His256Arg)" "6" "0000168811" "00008426" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "6" "0000168812" "00008426" "90" "786" "0" "786" "0" "c.786del" "r.(?)" "p.(Phe263Leufs*22)" "6" "0000168813" "00008426" "90" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "6" "0000168814" "00008426" "90" "817" "0" "817" "0" "c.817C>G" "r.(?)" "p.(Arg273Gly)" "6" "0000168815" "00008426" "90" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "6" "0000168816" "00008426" "90" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(Tyr279Cys)" "6" "0000168817" "00008426" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "6" "0000168818" "00008426" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "6" "0000168819" "00008426" "90" "862" "0" "862" "0" "c.862dup" "r.(?)" "p.(Thr288Asnfs*3)" "6" "0000168820" "00008426" "90" "891" "0" "891" "0" "c.891C>G" "r.(?)" "p.(Asn297Lys)" "6" "0000168821" "00008426" "90" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Gln)" "6" "0000168822" "00008426" "90" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31*)" "1" "0000168823" "00008426" "90" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Gly327Asp)" "6" "0000168824" "00008426" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "4" "0000168825" "00008426" "90" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Ser194*)" "5" "0000168826" "00008426" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "4" "0000168827" "00008426" "90" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31*)" "1" "0000168828" "00008426" "90" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Ser194*)" "5" "0000168829" "00008426" "90" "786" "0" "786" "0" "c.786del" "r.(?)" "p.(Phe263Leufs*22)" "6" "0000246758" "00008426" "90" "469" "0" "469" "0" "c.469A>C" "r.(?)" "p.(Thr157Pro)" "" "0000246759" "00008426" "90" "485" "-2" "485" "-2" "c.485-2A>G" "r.spl?" "p.?" "" "0000277032" "00008426" "10" "102" "0" "102" "0" "c.102=" "r.(=)" "p.(Ser34=)" "" "0000277033" "00008426" "90" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Pro78Leu)" "" "0000277034" "00008426" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(His82=)" "" "0000277035" "00008426" "90" "311" "-1" "311" "-1" "c.311-1G>A" "r.spl?" "p.?" "" "0000277036" "00008426" "90" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.(Met116Thr)" "" "0000277037" "00008426" "90" "347" "0" "347" "0" "c.347T>G" "r.(?)" "p.(Met116Arg)" "" "0000277038" "00008426" "90" "349" "0" "349" "0" "c.349dup" "r.(?)" "p.(Tyr117LeufsTer13)" "" "0000277039" "00008426" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000277040" "00008426" "90" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120Gln)" "" "0000277041" "00008426" "90" "389" "0" "389" "0" "c.389C>G" "r.(?)" "p.(Ser130Cys)" "" "0000277042" "00008426" "90" "445" "0" "445" "0" "c.445G>T" "r.(?)" "p.(Asp149Tyr)" "" "0000277043" "00008426" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Pro153Leu)" "" "0000277044" "00008426" "90" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "" "0000277045" "00008426" "10" "485" "-20" "485" "-20" "c.485-20C>G" "r.(=)" "p.(=)" "" "0000277046" "00008426" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163Ter)" "" "0000277047" "00008426" "10" "507" "0" "507" "0" "c.507T>G" "r.(?)" "p.(Ser169=)" "" "0000277048" "00008426" "90" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Ter)" "" "0000277049" "00008426" "90" "579" "1" "579" "1" "c.579+1G>A" "r.spl?" "p.?" "" "0000277050" "00008426" "90" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Ser194Ter)" "" "0000277051" "00008426" "90" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Leu223Ter)" "" "0000277052" "00008426" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Leu239Phe)" "" "0000277053" "00008426" "90" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Gly271Arg)" "" "0000277054" "00008426" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000277055" "00008426" "90" "864" "0" "864" "0" "c.864dup" "r.(?)" "p.(Phe289IlefsTer2)" "" "0000277056" "00008426" "90" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Gln)" "" "0000277057" "00008426" "90" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31Ter)" "" "0000281016" "00008426" "10" "102" "0" "102" "0" "c.102=" "r.(=)" "p.(Ser34=)" "" "0000281017" "00008426" "10" "507" "0" "507" "0" "c.507T>G" "r.(?)" "p.(Ser169=)" "" "0000342007" "00008426" "50" "477" "0" "477" "0" "c.477G>T" "r.(?)" "p.(Arg159Ser)" "" "0000348365" "00008426" "50" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Pro306Leu)" "" "0000348968" "00008426" "50" "109" "0" "109" "0" "c.109T>A" "r.(?)" "p.(Ser37Thr)" "" "0000455023" "00008426" "90" "694" "1" "694" "1" "c.694+1G>C" "r.spl" "p.?" "" "0000455024" "00008426" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000470538" "00008426" "90" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Glu52*)" "" "0000535325" "00008426" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0000535326" "00008426" "30" "310" "6" "310" "6" "c.310+6del" "r.(=)" "p.(=)" "" "0000535327" "00008426" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Tyr124Cys)" "" "0000535328" "00008426" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163Ter)" "" "0000535329" "00008426" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "" "0000535330" "00008426" "50" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Thr322Met)" "" "0000595606" "00008426" "50" "581" "0" "581" "0" "c.581C>G" "r.(?)" "p.(Ser194*)" "" "0000595607" "00008426" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000595608" "00008426" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "" "0000595609" "00008426" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000595610" "00008426" "50" "469" "0" "469" "0" "c.469A>C" "r.(?)" "p.(Thr157Pro)" "" "0000652523" "00008426" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125*)" "" "0000652524" "00008426" "90" "579" "1" "579" "1" "c.579+1G>A" "r.spl?" "p.?" "" "0000656153" "00008426" "50" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Gln218Arg)" "" "0000664003" "00008426" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000664004" "00008426" "90" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(His123Arg)" "" "0000664005" "00008426" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000664064" "00008426" "70" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Glu104Lys)" "" "0000664065" "00008426" "70" "399" "0" "399" "0" "c.399G>A" "r.(?)" "p.(Met133Ile)" "" "0000664066" "00008426" "70" "714" "0" "714" "0" "c.714G>C" "r.(?)" "p.(Trp238Cys)" "" "0000664116" "00008426" "70" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Glu104Lys)" "" "0000664124" "00008426" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000664127" "00008426" "90" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(His123Arg)" "" "0000664133" "00008426" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000664138" "00008426" "70" "501" "0" "501" "0" "c.501dup" "r.(?)" "p.(Glu168Argfs*3)" "" "0000708994" "00008426" "90" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(His256Arg)" "" "0000709006" "00008426" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "" "0000722091" "00008426" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000786867" "00008426" "70" "128" "0" "128" "0" "c.128dup" "r.(?)" "p.(Ile44AsnfsTer3)" "2" "0000786868" "00008426" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "3" "0000786869" "00008426" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "6" "0000786870" "00008426" "70" "802" "0" "803" "0" "c.802_803del" "r.(?)" "p.(Trp268GlyfsTer22)" "6" "0000787479" "00008426" "50" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Phe289Ser)" "6" "0000787589" "00008426" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "5" "0000832518" "00008426" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Lys47Argfs*3)" "" "0000833032" "00008426" "70" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(His82Gln)" "2" "0000833033" "00008426" "70" "614" "0" "614" "0" "c.614T>G" "r.(?)" "p.(Leu205Trp)" "5" "0000833212" "00008426" "90" "667" "0" "671" "0" "c.667_671dup" "r.(?)" "p.(Gln224Hisfs*37)" "" "0000833213" "00008426" "90" "667" "0" "671" "0" "c.667_671dup" "r.(?)" "p.(Gln224Hisfs*37)" "" "0000833214" "00008426" "90" "667" "0" "671" "0" "c.667_671dup" "r.(?)" "p.(Gln224Hisfs*37)" "" "0000834718" "00008426" "70" "311" "-23" "311" "-23" "c.311-23A>G" "r.(=)" "p.(=)" "" "0000834719" "00008426" "70" "311" "-23" "311" "-23" "c.311-23A>G" "r.(=)" "p.(=)" "" "0000834720" "00008426" "70" "311" "-23" "311" "-23" "c.311-23A>G" "r.(=)" "p.(=)" "" "0000834721" "00008426" "70" "218" "0" "218" "0" "c.218C>G" "r.(?)" "p.(Ser73*)" "" "0000834722" "00008426" "90" "694" "1" "694" "1" "c.694+1G>A" "r.spl?" "p.?" "" "0000834723" "00008426" "70" "77" "0" "77" "0" "c.77T>G" "r.(?)" "p.(Leu26Arg)" "" "0000834724" "00008426" "90" "506" "0" "512" "0" "c.506_512del" "r.(?)" "p.(Ser169*)" "" "0000834725" "00008426" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000834861" "00008426" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "" "0000840991" "00008426" "90" "407" "0" "407" "0" "c.407A>C" "r.(?)" "p.(Tyr136Ser)" "3" "0000840992" "00008426" "90" "712" "0" "712" "0" "c.712T>G" "r.(?)" "p.(Trp238Gly)" "3" "0000840993" "00008426" "90" "407" "0" "407" "0" "c.407A>C" "r.(?)" "p.(Tyr136Ser)" "3" "0000851996" "00008426" "10" "117" "28" "117" "28" "c.117+28G>A" "r.(=)" "p.(=)" "" "0000851997" "00008426" "10" "311" "-85" "311" "-85" "c.311-85T>C" "r.(=)" "p.(=)" "" "0000851998" "00008426" "10" "694" "24" "694" "24" "c.694+24C>T" "r.(=)" "p.(=)" "" "0000851999" "00008426" "10" "4019" "0" "4019" "0" "c.*2942T>G" "r.(=)" "p.(=)" "" "0000861287" "00008426" "90" "579" "1" "579" "1" "c.579+1G>A" "r.spl?" "p.?" "" "0000888455" "00008426" "70" "288" "0" "288" "0" "c.288T>G" "r.(?)" "p.(Tyr96*)" "" "0000888456" "00008426" "30" "693" "0" "693" "0" "c.693A>T" "r.(?)" "p.(Pro231=)" "" "0000888457" "00008426" "50" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Ala336Ser)" "" "0000978281" "00008426" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Leu239Phe)" "" "0000978282" "00008426" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000997314" "00008426" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Asp129Asn)" "" "0000997315" "00008426" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Val148Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 106 "{{screeningid}}" "{{variantid}}" "0000035994" "0000063119" "0000104127" "0000168772" "0000104128" "0000168773" "0000104129" "0000168774" "0000104130" "0000168775" "0000104131" "0000168776" "0000104132" "0000168777" "0000104133" "0000168778" "0000104134" "0000168779" "0000104135" "0000168780" "0000104136" "0000168781" "0000104137" "0000168782" "0000104138" "0000168783" "0000104139" "0000168784" "0000104140" "0000168785" "0000104141" "0000168786" "0000104142" "0000168787" "0000104143" "0000168788" "0000104144" "0000168789" "0000104145" "0000168790" "0000104146" "0000168791" "0000104147" "0000168792" "0000104148" "0000168793" "0000104149" "0000168794" "0000104150" "0000168795" "0000104151" "0000168796" "0000104152" "0000168797" "0000104153" "0000168798" "0000104154" "0000168799" "0000104155" "0000168800" "0000104156" "0000168801" "0000104157" "0000168802" "0000104158" "0000168803" "0000104159" "0000168804" "0000104160" "0000168805" "0000104161" "0000168806" "0000104162" "0000168807" "0000104163" "0000168808" "0000104164" "0000168809" "0000104165" "0000168810" "0000104166" "0000168811" "0000104167" "0000168812" "0000104168" "0000168813" "0000104169" "0000168814" "0000104170" "0000168815" "0000104171" "0000168816" "0000104172" "0000168817" "0000104173" "0000168818" "0000104174" "0000168819" "0000104174" "0000168824" "0000104175" "0000168820" "0000104176" "0000168821" "0000104177" "0000168822" "0000104178" "0000168823" "0000104179" "0000168825" "0000104179" "0000168826" "0000104180" "0000168827" "0000104181" "0000168828" "0000104182" "0000168829" "0000220127" "0000455023" "0000220128" "0000455024" "0000229359" "0000470538" "0000265023" "0000595606" "0000265024" "0000595607" "0000265025" "0000595608" "0000265026" "0000595609" "0000265027" "0000595610" "0000295834" "0000652523" "0000295835" "0000652524" "0000301108" "0000664003" "0000301109" "0000664004" "0000301110" "0000664005" "0000301169" "0000664064" "0000301170" "0000664065" "0000301171" "0000664066" "0000301221" "0000664116" "0000301229" "0000664124" "0000301232" "0000664127" "0000301238" "0000664133" "0000301243" "0000664138" "0000325834" "0000708994" "0000325834" "0000709006" "0000375516" "0000786867" "0000375517" "0000786868" "0000375517" "0000787479" "0000375518" "0000786869" "0000375519" "0000786870" "0000375914" "0000787589" "0000399870" "0000832518" "0000400225" "0000833032" "0000400225" "0000833033" "0000400227" "0000833212" "0000400369" "0000833213" "0000400370" "0000833214" "0000401462" "0000834718" "0000401463" "0000834719" "0000401464" "0000834720" "0000401465" "0000834721" "0000401466" "0000834722" "0000401467" "0000834723" "0000401467" "0000834724" "0000401468" "0000834725" "0000401538" "0000834861" "0000405003" "0000840991" "0000405005" "0000840992" "0000405006" "0000840993"