### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HSPB1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "HSPB1" "heat shock 27kDa protein 1" "7" "q11.23" "unknown" "LRG_248" "UD_132119022283" "" "http://www.LOVD.nl/HSPB1" "" "1" "5246" "3315" "602195" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\n
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/HSPB1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2016-01-11 00:22:56" "00006" "2026-04-13 18:23:33" ## 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}}" "00009695" "HSPB1" "heat shock 27kDa protein 1" "001" "NM_001540.3" "" "NP_001531.1" "" "" "" "-155" "742" "618" "75931875" "75933614" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "02591" "CMT2F" "Charcot-Marie-Tooth disease, type 2F (CMT-2F)" "AD" "606595" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02775" "HMN2B" "neuropathy, motor, distal, hereditary, type 2B (HMN-2B)" "AD" "608634" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05104" "-" "neuropathy, peripheral" "" "" "" "" "" "00006" "2015-12-05 03:05:09" "" "" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05112" "HMN2" "neuropathy, motor, distal, hereditary, type II (HMN-2)" "" "" "" "" "" "00006" "2016-01-11 01:38:35" "00006" "2021-12-11 13:56:28" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HSPB1" "02591" "HSPB1" "02775" ## 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}}" "00035949" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035950" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035951" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035952" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00056452" "" "" "" "1" "" "00006" "{PMID:Houlden 2008:18832141}" "2-geenration family, affected boy and possibly affected, deceased mother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056453" "" "" "" "1" "" "00006" "{PMID:James 2008:18344398}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056454" "" "" "" "1" "" "00006" "{PMID:Houlden 2008:18832141}" "2-generation family, 1 affected, unaffected heterozygous carrier parent/sister" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00056455" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "?" "no" "Belgium" "" "0" "" "" "" "" "00056456" "" "" "" "2" "" "00006" "{PMID:Benedetti 2010:21149811}" "2-generation family, affected mother daugther" "F" "no" "Italy" "" "0" "" "" "" "" "00056457" "" "" "" "18" "" "00006" "{PMID:Evgrafov 2004:15122254}" "6-generation family, 18 affecteds (8F, 10M)" "F;M" "no" "Russian Federation" "" "0" "" "" "" "" "00056458" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "" "no" "Belgium" "" "0" "" "" "" "" "00056459" "" "" "" "2" "" "00006" "{PMID:Houlden 2008:18832141}" "4-generation family, affected father/son" "M" "" "India" "" "0" "" "" "" "" "00056460" "" "" "" "3" "" "00006" "{PMID:Ikeda 2009:18952241}" "3-generation family, 3 affected males" "M" "no" "Japan" "" "0" "" "" "" "" "00056461" "" "" "" "4" "" "00006" "{PMID:Evgrafov 2004:15122254}" "4-generation family, 4 afffecteds (F, 3M)" "F;M" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00056462" "" "" "" "2" "" "00006" "{PMID:Mandich 2010:19435728}" "2-generation family, affected father/son" "M" "no" "Italy" "" "0" "" "" "" "" "00056463" "" "" "" "1" "" "00006" "{PMID:Luigetti 2010:20870250}" "" "F" "no" "Italy" ">19y" "0" "" "" "" "" "00056464" "" "" "" "1" "" "00006" "{PMID:Kijima 2005:16155736}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "" "0" "" "" "" "" "00056465" "" "" "" "3" "" "00006" "{PMID:Evgrafov 2004:15122254}" "2-generation family, affected father and brother/sister" "F;M" "no" "Austria" "" "0" "" "" "" "" "00056496" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "" "no" "" "" "0" "" "" "Russian Federation" "" "00056497" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "" "no" "" "" "0" "" "" "Russian Federation" "" "00056498" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "" "no" "" "" "0" "" "" "Russian Federation" "" "00056499" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "" "no" "" "" "0" "" "" "Russian Federation" "" "00056500" "" "" "" "1" "" "00006" "{PMID:Evgrafov 2004:15122254}" "" "" "no" "" "" "0" "" "" "United Kingdom (Great Britain)" "" "00057162" "" "" "" "1" "" "00006" "{PMID:Benedetti 2010:21149811}" "" "M" "no" "Italy" ">47y" "0" "" "" "" "" "00057163" "" "" "" "1" "" "00006" "{PMID:Benedetti 2010:21149811}" "" "F" "no" "Italy" ">52y" "0" "" "" "" "" "00057165" "" "" "" "1" "" "00006" "{PMID:Kijima 2005:16155736}" "" "" "" "Japan" "" "0" "" "" "" "" "00057166" "" "" "" "1" "" "00006" "{PMID:Kijima 2005:16155736}" "" "" "" "Japan" "" "0" "" "" "" "" "00057167" "" "" "" "1" "" "00006" "{PMID:Kijima 2005:16155736}" "" "" "" "Japan" "" "0" "" "" "" "" "00057168" "" "" "" "49" "" "00006" "{PMID:Houlden 2008:18832141}" "9-generation family, 49 affecteds" "M;F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00057169" "" "" "" "2" "" "00006" "{PMID:Houlden 2008:18832141}" "2-geenration family, 2 affected brothers and possibly affected, deceased father" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00057170" "" "" "" "1" "" "00006" "{PMID:Houlden 2008:18832141}" "2-generation family, 1 affected, untested parents" "M" "no" "India" "" "0" "" "" "" "" "00057171" "" "" "" "1" "" "00006" "{PMID:Houlden 2008:18832141}" "2-generation family, 1 affected, untested parents" "M" "no" "India" "" "0" "" "" "" "" "00074532" "" "" "" "1" "" "01692" "" "" "" "" "" "" "0" "" "" "" "" "00074533" "" "" "" "1" "" "01692" "" "" "" "" "" "" "0" "" "" "" "" "00208779" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00218996" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat6" "00218997" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat7" "00263932" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00296674" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00299999" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300000" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-HSPB1-a" "00300001" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300061" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300062" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300117" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-HSPB1-b" "00314334" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00324634" "" "" "" "3" "" "00006" "{PMID:Lin 2011:232206013}" "3-generation family, 3 affected (F, 2M)" "M" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam2" "00359003" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "176829" "00359273" "" "" "" "2" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F1" "00359274" "" "" "00359273" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F1" "00359275" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F2" "00359276" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Cote D\'Ivoire (Ivory Coast)" "" "0" "" "" "" "F3" "00359277" "" "" "" "2" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F4" "00359278" "" "" "00359277" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F4" "00359279" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F5" "00359280" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F6" "00359281" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F7" "00359282" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Algeria" "" "0" "" "" "" "F8" "00359283" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F9" "00359284" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F10" "00359285" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F11" "00359286" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F12" "00359287" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F13" "00359288" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F14" "00359289" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "England" "" "0" "" "" "" "F15" "00359290" "" "" "" "2" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F16" "00359291" "" "" "00359290" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F16" "00359292" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F17" "00359293" "" "" "" "2" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "Italy" "" "0" "" "" "" "F18" "00359294" "" "" "00359293" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Italy" "" "0" "" "" "" "F18" "00359295" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F19" "00359296" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F20" "00359297" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F21" "00359298" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Algeria" "" "0" "" "" "" "F22" "00359299" "" "" "" "2" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F23" "00359300" "" "" "00359299" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F23" "00359301" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Algeria" "" "0" "" "" "" "F24" "00359302" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F25" "00359303" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Armenia" "" "0" "" "" "" "F26" "00359304" "" "" "" "6" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "family, 6 affected" "" "" "France" "" "0" "" "" "" "F27" "00359305" "" "" "00359304" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F27" "00359306" "" "" "00359304" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F27" "00359307" "" "" "00359304" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F27" "00359308" "" "" "00359304" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F27" "00359309" "" "" "00359304" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "France" "" "0" "" "" "" "F27" "00359310" "" "" "" "1" "" "00006" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Portugal" "" "0" "" "" "" "F28" "00374755" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1196" "00374756" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5303" "00398497" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 1 affected, unaffected parents" "F" "" "Italy" ">76y" "0" "" "" "" "402" "00435111" "" "" "" "1" "" "01741" "" "" "?" "" "Germany" "" "" "" "" "" "" "00466208" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "340342" "00473052" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam11837Pat165" "00473182" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam106689Pat351" "00473227" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam110976Pat422" "00473493" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam302097Pat848" "00473519" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam8907356Pat891" "00473824" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9706282Pat1298" "00476118" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "M" "" "(Australia);(New Zealand)" "" "0" "" "" "" "MF145" "00476141" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "F" "" "(Australia);(New Zealand)" "" "0" "" "" "" "ET1192" "00476532" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "M" "" "(Australia);(New Zealand)" "" "0" "" "" "" "WT146" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 97 "{{individualid}}" "{{diseaseid}}" "00035949" "00198" "00035950" "00198" "00056452" "00199" "00056453" "05111" "00056454" "00199" "00056455" "05111" "00056456" "00199" "00056457" "02591" "00056458" "02591" "00056459" "00199" "00056460" "05112" "00056461" "05111" "00056462" "05104" "00056463" "00199" "00056464" "05111" "00056465" "05111" "00056496" "00199" "00056497" "00199" "00056498" "00199" "00056499" "00199" "00056500" "05111" "00057162" "00199" "00057163" "00199" "00057165" "05111" "00057166" "05111" "00057167" "05111" "00057168" "00199" "00057169" "00199" "00057170" "00199" "00057171" "00199" "00074532" "04255" "00074533" "04255" "00218996" "05113" "00218997" "05113" "00263932" "00199" "00296674" "00198" "00299999" "05111" "00300000" "00199" "00300001" "00199" "00300061" "00199" "00300062" "05111" "00300117" "05111" "00314334" "05126" "00324634" "05113" "00359003" "02591" "00359273" "05111" "00359274" "05111" "00359275" "05111" "00359276" "05111" "00359277" "05111" "00359278" "05111" "00359279" "05111" "00359280" "05111" "00359281" "05111" "00359282" "05111" "00359283" "05111" "00359284" "05111" "00359285" "05111" "00359286" "05111" "00359287" "05111" "00359288" "05111" "00359289" "05111" "00359290" "05111" "00359291" "05111" "00359292" "05111" "00359293" "05111" "00359294" "05111" "00359295" "05111" "00359296" "05111" "00359297" "05111" "00359298" "05111" "00359299" "05111" "00359300" "05111" "00359301" "05111" "00359302" "05111" "00359303" "05111" "00359304" "05111" "00359305" "05111" "00359306" "05111" "00359307" "05111" "00359308" "05111" "00359309" "05111" "00359310" "05111" "00374755" "00198" "00374756" "00198" "00398497" "05113" "00435111" "05157" "00466208" "02591" "00473052" "05384" "00473182" "05384" "00473227" "05384" "00473493" "00244" "00473519" "05123" "00473824" "05384" "00476118" "00244" "00476141" "00325" "00476532" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 00244, 00325, 02591, 02775, 04255, 05104, 05111, 05112, 05113, 05123, 05126, 05157, 05384 ## Count = 93 "{{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}}" "0000043140" "00199" "00056452" "00006" "Unknown" "" "see paper; ..." "54y" "" "" "" "" "" "" "" "" "" "" "0000043141" "05111" "00056453" "00006" "Unknown" "" "Neuropathy, distal hereditary motor" "" "" "" "" "" "" "" "" "" "" "" "0000043142" "00199" "00056454" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000043143" "05111" "00056455" "00006" "Familial, autosomal dominant" "" "Neuropathy, distal hereditary motor" "" "" "" "" "" "" "" "" "" "" "" "0000043144" "00199" "00056456" "00006" "Familial, autosomal dominant" "" "Charcot-Marie-Tooth disease 2; see paper ..." "" "" "" "" "" "" "" "" "" "" "" "0000043145" "02591" "00056457" "00006" "Familial, autosomal dominant" "" "progressive symmetrical weakness, atrophy distal limb muscles initially involving legs particularly peroneal muscles, depressed or absent tendon reflexes, mild/moderate distal\r\nsensory abnormalities; age onset 15–25y" "" "" "" "" "" "" "" "" "" "" "" "0000043146" "02591" "00056458" "00006" "Familial, autosomal dominant" "" "Charcot-Marie-Tooth disease, axonal, type 2F" "" "" "" "" "" "" "" "" "" "" "" "0000043147" "00199" "00056459" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000043149" "05111" "00056461" "00006" "Familial, autosomal dominant" "" "neuropathy, distal hereditary motor" "" "" "" "" "" "" "" "" "" "" "" "0000043150" "05104" "00056462" "00006" "Familial, autosomal dominant" "" "peripheral neuropathy, early-onset" "" "" "" "" "" "" "" "" "" "" "" "0000043151" "00199" "00056463" "00006" "Unknown" "" "see paper; wasting and weakness distal muscles, primarily/mostly lower limbs and later upper limbs, ..." "07y" "" "difficulty walking" "" "" "" "" "" "" "" "" "0000043152" "05111" "00056464" "00006" "Familial, autosomal dominant" "" "Neuropathy, distal hereditary motor" "" "" "" "" "" "" "" "" "" "" "" "0000043153" "05111" "00056465" "00006" "Familial, autosomal dominant" "" "neuropathy, distal hereditary motor" "" "" "" "" "" "" "" "" "" "" "" "0000043184" "00199" "00056496" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043185" "00199" "00056497" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043186" "00199" "00056498" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043187" "00199" "00056499" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043188" "05111" "00056500" "00006" "Familial, autosomal dominant" "" "distal hereditary motor neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000043850" "00199" "00057162" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000043851" "00199" "00057163" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000043852" "05112" "00056460" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000043854" "00199" "00057168" "00006" "Familial, autosomal recessive" "" "see paper; ..." "21y" "" "" "" "" "" "" "" "" "" "" "0000043855" "00199" "00057169" "00006" "Familial, autosomal recessive" "" "see paper; ..." "39y" "" "" "" "" "" "" "" "" "" "" "0000043856" "00199" "00057170" "00006" "Unknown" "" "see paper; ..." "39y" "" "" "" "" "" "" "" "" "" "" "0000043857" "00199" "00057171" "00006" "Unknown" "" "see paper; ..." "37y" "" "" "" "" "" "" "" "" "" "" "0000054323" "04255" "00074532" "01692" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054324" "04255" "00074533" "01692" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156313" "00198" "00035949" "01164" "Unknown" "" "since youth increasing atrophy of lower legs, Pes equinovarus, atrophy of hand muscles" "" "" "" "" "" "" "" "" "" "atrophy" "" "0000156314" "00198" "00035950" "01164" "Unknown" "" "hereditäre Neuropathie" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000157393" "00198" "00208779" "01164" "Unknown" "" "HP:0001288 (Gait disturbance); HP:0100022 (Abnormality of movement); HP:0007178 (Motor polyneuropathy); HP:0000759 (Abnormal peripheral nervous system morphology)" "" "" "" "" "" "" "" "" "" "" "" "0000167553" "05113" "00218996" "00006" "Familial, autosomal dominant" "" "CMT2F" "" "" "" "" "" "" "" "" "CMT-2F" "Charcot-Marie-Tooth diseae" "" "0000167554" "05113" "00218997" "00006" "Familial, autosomal dominant" "" "CMT2F" "" "" "" "" "" "" "" "" "CMT-2F" "Charcot-Marie-Tooth diseae" "" "0000224075" "00198" "00296674" "01164" "Unknown" "" "Abnormality of nervous system morphology (HP:0012639); Abnormal nerve conduction velocity (HP:0040129); Abnormality of the nervous system (HP:0000707); Sensorimotor neuropathy (HP:0007141)" "" "" "" "" "" "" "" "" "" "" "" "0000227320" "05111" "00299999" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227321" "00199" "00300000" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227322" "00199" "00300001" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227382" "00199" "00300061" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227383" "05111" "00300062" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227438" "05111" "00300117" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000243139" "05113" "00324634" "00006" "Familial, autosomal dominant" "34y" "see paper; ..." "20y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000254300" "02591" "00359003" "01164" "Unknown" "44y" "Myalgias, weakness and CK elevation (up to max 3000 U/L), marked calf hypertrophy, negative family history, EMG: pSA and myopathic, muscular biopsy: necrosis and small inflammatory infiltrates (therapy with cortisone, AZA, MTX unsuccessful), / (+) Myopathy,(+) Myalgia,(+) EMG abnormality,(+) EMG: myopathic abnormalities,(+) Necrotizing myopathy,(+) Abnormal skeletal muscle morphology,(+) Pain" "" "" "" "" "" "" "" "" "" "" "" "0000254569" "05111" "00359273" "00006" "Familial, autosomal dominant" "20y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254570" "05111" "00359274" "00006" "Familial, autosomal dominant" "22y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254571" "05111" "00359275" "00006" "Familial, autosomal dominant" "40y" "see paper; ..., distal weakness LL+UL; proximal weakness LL; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254572" "05111" "00359276" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; cerebellar ataxia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254573" "05111" "00359277" "00006" "Familial, autosomal dominant" "40y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254574" "05111" "00359278" "00006" "Familial, autosomal dominant" "45y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254575" "05111" "00359279" "00006" "Familial, autosomal dominant" "30y" "see paper; ..., distal weakness LL; proximal weakness LL; spasticity lower legs; sensory involvement LL; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254576" "05111" "00359280" "00006" "Familial, autosomal dominant" "14y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254577" "05111" "00359281" "00006" "Familial, autosomal dominant" "15y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; Spasticity" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254578" "05111" "00359282" "00006" "Familial, autosomal dominant" "40y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254579" "05111" "00359283" "00006" "Familial, autosomal dominant" "20y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 550 (U/L)" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254580" "05111" "00359284" "00006" "Familial, autosomal dominant" "35y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254581" "05111" "00359285" "00006" "Isolated (sporadic)" "40y" "see paper; ..., distal weakness LL+UL; proximal weakness LL; spasticity lower legs; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254582" "05111" "00359286" "00006" "Familial, autosomal dominant" "5y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254583" "05111" "00359287" "00006" "Familial, autosomal dominant" "40y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; Spasticity" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254584" "05111" "00359288" "00006" "Familial, autosomal dominant" "45y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254585" "05111" "00359289" "00006" "Familial, autosomal dominant" "20y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254586" "05111" "00359290" "00006" "Familial, autosomal dominant" "45y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254587" "05111" "00359291" "00006" "Familial, autosomal dominant" "50y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254588" "05111" "00359292" "00006" "Familial, autosomal dominant" "20y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254589" "05111" "00359293" "00006" "Familial, autosomal dominant" "26y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254590" "05111" "00359294" "00006" "Familial, autosomal dominant" "22y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254591" "05111" "00359295" "00006" "Isolated (sporadic)" "60y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254592" "05111" "00359296" "00006" "Familial, autosomal dominant" "45y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254593" "05111" "00359297" "00006" "Familial, autosomal dominant" "50y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; CK level 300 (U/L); feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254594" "05111" "00359298" "00006" "Isolated (sporadic)" "20y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254595" "05111" "00359299" "00006" "Familial, autosomal dominant" "30y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254596" "05111" "00359300" "00006" "Familial, autosomal dominant" "45y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254597" "05111" "00359301" "00006" "Isolated (sporadic)" "20y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 300 (U/L)" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254598" "05111" "00359302" "00006" "Familial, autosomal dominant" "38y" "see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; Spasticity; CK level 220 (U/L); spasticity lower legs" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254599" "05111" "00359303" "00006" "Familial, autosomal dominant" "24y" "see paper; ..., distal weakness LL+UL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254600" "05111" "00359304" "00006" "Familial, autosomal dominant" "35y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254601" "05111" "00359305" "00006" "Familial, autosomal dominant" "32y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254602" "05111" "00359306" "00006" "Familial, autosomal dominant" "36y" "see paper; ..., distal weakness LL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254603" "05111" "00359307" "00006" "Familial, autosomal dominant" "30y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254604" "05111" "00359308" "00006" "Familial, autosomal dominant" "50y" "see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254605" "05111" "00359309" "00006" "Familial, autosomal dominant" "30y" "see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000254606" "05111" "00359310" "00006" "Isolated (sporadic)" "9y" "see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement" "" "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "" "0000269965" "00198" "00374755" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269966" "00198" "00374756" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000291680" "05113" "00398497" "04188" "Familial, autosomal dominant" "76y" "Joint laxity (HP:0001388), Gait disturbance (HP:0001288), Foot dorsiflexor weakness (HP:0009027), Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)" "56y" "" "Joint laxity (HP:0001388), Gait disturbance (HP:0001288), Foot dorsiflexor weakness (HP:0009027), Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)" "" "" "" "" "" "CMT2F" "CMT" "" "0000325345" "05157" "00435111" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351591" "02591" "00466208" "01164" "Unknown" "46y" "Fatigable weakness" "" "" "" "" "" "" "" "" "" "" "" "0000357847" "05384" "00473052" "00006" "Familial, autosomal dominant" "54y" "onset 52y, Lower limbs weakness, rapidly progressive; Fasciculations, all limbs, lower>upper; Stiffening of muscles; Shortness of breath; Atrophy of hand muscles; EMG: chronic anterior horn cell disease with upper motor involvement suggestive of distal SMA or HSP, HMN & familial ALS; Wheelchair bound." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000357977" "05384" "00473182" "00006" "Familial, autosomal dominant" "63y" "Sporadic case, age 63y , onset 57y , distal lower muscle weakness, pes cavus, foot drop, decreased deep tendon reflexes(DTR) ,distal hereditary motor neuropathy (distal SMA) reported in EMG/NCV." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358022" "05384" "00473227" "00006" "Familial, autosomal dominant" "58y" "Distal muscle weakness, upper/lower, due to neuropathy; Foot dorsiflexor weakness; Maternal diabetes with onset 28y; Spondylosis in thoracic, and lumbo-sacral spine MRI; EMG-NCV: possibility of chronic anterior horn cell disease; No parental consanguinity." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358288" "00244" "00473493" "00006" "Familial, autosomal dominant" "45y" "Sporadic case, age 45y , started 3y with exercise intolerance and fatigue , proximal lower muscle weakness, standing difficulty, exertional dyspnea and foot drop." "" "" "" "" "" "" "" "" "" "myopathy" "" "0000358314" "05123" "00473519" "00006" "Familial, autosomal dominant" "59y" "onset 40y , lower muscle cramps, foot drop, lower muscle weakness with neuropathy, climbing difficulty, chronic anterior horn cell disease reported in EMG/NCV." "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358619" "05384" "00473824" "00006" "Familial, autosomal dominant" "53y" "Vertical inheritance, multiple affected individuals, onset 4y earlier, upper and lower muscle weakness, cold induced muscle cramps, neuropathy, foot drop , distal sensory impairment, hyporeflexia, motor sensory axonal polyneuropathy reported in NCV, negative MLPA result for PMP22 dup/del." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000360792" "00244" "00476118" "00006" "Familial, autosomal dominant" "" "details not specified; no correlation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "distal myopathy" "" "0000360815" "00325" "00476141" "00006" "Familial, autosomal dominant" "78y" "details not specified; no correlation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "" "0000361206" "00198" "00476532" "00006" "Familial, autosomal dominant" "51y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "peripheral nerve disorder" "" ## 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}}" "0000036019" "00035949" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036020" "00035950" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036021" "00035951" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036022" "00035952" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000056413" "00056452" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056414" "00056453" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056415" "00056454" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056416" "00056455" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056417" "00056456" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056418" "00056457" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056419" "00056458" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056420" "00056459" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056421" "00056460" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056422" "00056461" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056423" "00056462" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056424" "00056463" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056425" "00056464" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056426" "00056465" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000056457" "00056496" "1" "00006" "00006" "2016-01-11 08:05:51" "" "" "SEQ" "DNA" "" "" "0000056458" "00056497" "1" "00006" "00006" "2016-01-11 08:05:51" "" "" "SEQ" "DNA" "" "" "0000056459" "00056498" "1" "00006" "00006" "2016-01-11 08:05:51" "" "" "SEQ" "DNA" "" "" "0000056460" "00056499" "1" "00006" "00006" "2016-01-11 08:05:51" "" "" "SEQ" "DNA" "" "" "0000056461" "00056500" "1" "00006" "00006" "2016-01-11 08:05:51" "" "" "SEQ" "DNA" "" "" "0000057123" "00057162" "1" "00006" "00006" "2016-01-12 11:26:50" "" "" "SEQ" "DNA" "" "" "0000057124" "00057163" "1" "00006" "00006" "2016-01-12 11:31:08" "" "" "SEQ" "DNA" "" "" "0000057126" "00057165" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000057127" "00057166" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000057128" "00057167" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000057129" "00057168" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000057130" "00057169" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000057131" "00057170" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000057132" "00057171" "1" "00006" "00006" "2012-11-05 16:10:33" "" "" "SEQ" "DNA" "" "" "0000074695" "00074532" "1" "01692" "01692" "2016-07-06 23:12:45" "" "" "SEQ" "DNA" "" "" "0000074696" "00074533" "1" "01692" "01692" "2016-07-06 23:22:23" "" "" "SEQ" "DNA" "" "" "0000209828" "00208779" "1" "01164" "01164" "2018-12-17 10:13:18" "" "" "SEQ-NG" "DNA" "" "" "0000220068" "00218996" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220069" "00218997" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000265042" "00263932" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000297784" "00296674" "1" "01164" "01164" "2020-04-10 08:51:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301115" "00299999" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301116" "00300000" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301117" "00300001" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301177" "00300061" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301178" "00300062" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301233" "00300117" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000315507" "00314334" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325833" "00324634" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000360241" "00359003" "1" "01164" "01164" "2021-03-18 15:31:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000360513" "00359273" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360514" "00359274" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360515" "00359275" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360516" "00359276" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360517" "00359277" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360518" "00359278" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360519" "00359279" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360520" "00359280" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360521" "00359281" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360522" "00359282" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360523" "00359283" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360524" "00359284" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360525" "00359285" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360526" "00359286" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360527" "00359287" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360528" "00359288" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360529" "00359289" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360530" "00359290" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360531" "00359291" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360532" "00359292" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360533" "00359293" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360534" "00359294" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360535" "00359295" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360536" "00359296" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360537" "00359297" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360538" "00359298" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360539" "00359299" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360540" "00359300" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360541" "00359301" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360542" "00359302" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360543" "00359303" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360544" "00359304" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360545" "00359305" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360546" "00359306" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360547" "00359307" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360548" "00359308" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360549" "00359309" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000360550" "00359310" "1" "00006" "00006" "2021-03-19 08:49:14" "" "" "SEQ" "DNA" "" "" "0000375949" "00374755" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375950" "00374756" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000399743" "00398497" "1" "04188" "04188" "2022-01-05 14:31:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000436583" "00435111" "1" "01741" "01741" "2023-05-14 14:58:35" "" "" "SEQ-NG" "DNA" "" "" "0000467865" "00466208" "1" "01164" "01164" "2025-08-08 13:21:52" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000474721" "00473052" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474851" "00473182" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474896" "00473227" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475162" "00473493" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475188" "00473519" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475493" "00473824" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000477762" "00476118" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" "0000477785" "00476141" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "464-gene panel" "0000478176" "00476532" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{geneid}}" "0000036019" "HSPB1" "0000036020" "HSPB1" "0000036021" "HSPB1" "0000036022" "HSPB1" "0000056413" "HSPB1" "0000056414" "HSPB1" "0000056415" "HSPB1" "0000056416" "HSPB1" "0000056417" "HSPB1" "0000056418" "HSPB1" "0000056419" "HSPB1" "0000056420" "HSPB1" "0000056421" "HSPB1" "0000056422" "HSPB1" "0000056423" "HSPB1" "0000056424" "HSPB1" "0000056425" "HSPB1" "0000056426" "HSPB1" "0000056457" "HSPB1" "0000056458" "HSPB1" "0000056459" "HSPB1" "0000056460" "HSPB1" "0000056461" "HSPB1" "0000057123" "HSPB1" "0000057124" "HSPB1" "0000057126" "HSPB1" "0000057127" "HSPB1" "0000057128" "HSPB1" "0000057129" "HSPB1" "0000057130" "HSPB1" "0000057131" "HSPB1" "0000057132" "HSPB1" "0000074695" "HSPB1" "0000074696" "HSPB1" "0000220068" "HSPB1" "0000220069" "HSPB1" "0000265042" "HSPB1" "0000301115" "HSPB1" "0000301116" "HSPB1" "0000301117" "HSPB1" "0000301177" "HSPB1" "0000301178" "HSPB1" "0000301233" "HSPB1" "0000315507" "HSPB1" "0000325833" "HSPB1" "0000360241" "HSPB1" "0000360513" "HSPB1" "0000360514" "HSPB1" "0000360515" "HSPB1" "0000360516" "HSPB1" "0000360517" "HSPB1" "0000360518" "HSPB1" "0000360519" "HSPB1" "0000360520" "HSPB1" "0000360521" "HSPB1" "0000360522" "HSPB1" "0000360523" "HSPB1" "0000360524" "HSPB1" "0000360525" "HSPB1" "0000360526" "HSPB1" "0000360527" "HSPB1" "0000360528" "HSPB1" "0000360529" "HSPB1" "0000360530" "HSPB1" "0000360531" "HSPB1" "0000360532" "HSPB1" "0000360533" "HSPB1" "0000360534" "HSPB1" "0000360535" "HSPB1" "0000360536" "HSPB1" "0000360537" "HSPB1" "0000360538" "HSPB1" "0000360539" "HSPB1" "0000360540" "HSPB1" "0000360541" "HSPB1" "0000360542" "HSPB1" "0000360543" "HSPB1" "0000360544" "HSPB1" "0000360545" "HSPB1" "0000360546" "HSPB1" "0000360547" "HSPB1" "0000360548" "HSPB1" "0000360549" "HSPB1" "0000360550" "HSPB1" "0000375949" "HSPB1" "0000375950" "HSPB1" "0000399743" "HSPB1" "0000436583" "HSPB1" "0000467865" "HSPB1" ## 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 = 136 "{{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}}" "0000063144" "1" "50" "7" "75933215" "75933229" "del" "0" "01164" "HSPB1_000003" "g.75933215_75933229del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.76303898_76303912del" "" "VUS" "" "0000063145" "1" "50" "7" "75933112" "75933112" "subst" "0.000160035" "01164" "HSPB1_000002" "g.75933112C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.76303795C>G" "" "VUS" "" "0000063146" "1" "10" "7" "75933059" "75933059" "subst" "0" "01164" "HSPB1_000001" "g.75933059C>T" "" "" "" "" "" "Germline" "" "rs11769502" "0" "" "" "g.76303742C>T" "" "benign" "" "0000063147" "1" "10" "7" "75932038" "75932038" "subst" "0.00365486" "01164" "HSPB1_000004" "g.75932038G>A" "" "" "" "" "" "Germline" "" "rs77586767" "0" "" "" "g.76302721G>A" "" "benign" "" "0000086660" "20" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Houlden 2008:18832141}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic" "" "0000086661" "0" "90" "7" "75932279" "75932279" "subst" "6.99027E-6" "00006" "HSPB1_000005" "g.75932279G>C" "" "{PMID:James 2008:18344398}" "" "349G>C" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.76302962G>C" "" "pathogenic" "" "0000086662" "3" "70" "7" "75932324" "75932324" "subst" "0" "00006" "HSPB1_000006" "g.75932324C>A" "" "{PMID:Houlden 2008:18832141}, {OMIM602195:0008}" "" "C295A" "" "Germline" "" "rs121909113" "0" "" "" "g.76303007C>A" "" "likely pathogenic" "" "0000086663" "1" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0002}" "" "" "" "Germline" "" "rs29001571" "0" "" "" "g.76303816C>T" "" "pathogenic" "" "0000086664" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000008" "g.75933158C>G" "" "{PMID:Benedetti 2010:21149811}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76303841C>G" "" "pathogenic" "" "0000086665" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0001}" "" "" "" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000086666" "1" "90" "7" "75933160" "75933160" "subst" "4.09413E-6" "00006" "HSPB1_000010" "g.75933160C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0005}" "" "" "" "Germline" "yes" "rs28939681" "0" "" "" "g.76303843C>T" "" "pathogenic" "" "0000086667" "1" "90" "7" "75933172" "75933172" "subst" "0" "00006" "HSPB1_000011" "g.75933172C>G" "" "{PMID:Houlden 2008:18832141}, {OMIM602195:0007}" "" "" "" "Germline" "yes" "rs121909112" "0" "" "" "g.76303855C>G" "" "pathogenic" "" "0000086668" "1" "90" "7" "75933175" "75933175" "subst" "0" "00006" "HSPB1_000012" "g.75933175A>C" "" "{PMID:Ikeda 2009:18952241}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76303858A>C" "" "pathogenic" "" "0000086669" "1" "90" "7" "75933324" "75933324" "subst" "0" "00006" "HSPB1_000013" "g.75933324C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0003}" "" "" "" "Germline" "yes" "rs28937568" "0" "" "" "g.76304007C>T" "" "pathogenic" "" "0000086670" "1" "90" "7" "75933348" "75933349" "del" "1.22619E-5" "00006" "HSPB1_000014" "g.75933348_75933349del" "" "{PMID:Mandich 2010:19435728}" "" "476_477delCT" "" "Germline" "yes" "" "0" "" "" "g.76304031_76304032del" "" "pathogenic" "" "0000086671" "0" "90" "7" "75933411" "75933411" "subst" "0" "00006" "HSPB1_000015" "g.75933411C>T" "" "{PMID:Luigetti 2010:20870250}" "" "" "" "Germline" "" "" "0" "" "" "g.76304094C>T" "" "pathogenic" "" "0000086672" "1" "90" "7" "75933416" "75933416" "subst" "0" "00006" "HSPB1_000016" "g.75933416C>T" "1/74 cases" "{PMID:Kijima 2005:16155736}, {OMIM602195:0006}" "" "" "" "De novo" "-" "rs104894020" "0" "" "" "g.76304099C>T" "" "pathogenic" "" "0000086673" "1" "90" "7" "75933417" "75933417" "subst" "0" "00006" "HSPB1_000017" "g.75933417C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0004}" "" "" "" "Germline" "yes" "rs28937569" "0" "" "" "g.76304100C>T" "" "pathogenic" "" "0000086738" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0001}" "" "" "variant on shared haplotype (Russia)" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000086739" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0001}" "" "" "variant on shared haplotype (Russia)" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000086740" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0001}" "" "" "variant on shared haplotype (Russia)" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000086741" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0001}" "" "" "variant on shared haplotype (Russia)" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000086742" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Evgrafov 2004:15122254}, {OMIM602195:0001}" "" "" "different haplotype" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000087410" "0" "50" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Benedetti 2010:21149811}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "VUS" "" "0000087411" "0" "30" "7" "75933106" "75933106" "subst" "8.21301E-6" "00006" "HSPB1_000019" "g.75933106C>T" "" "{PMID:Benedetti 2010:21149811}" "" "" "" "Germline" "" "" "0" "" "" "g.76303789C>T" "" "likely benign" "" "0000087413" "1" "10" "7" "75931974" "75931974" "subst" "0" "00006" "HSPB1_000021" "g.75931974C>T" "?" "{PMID:Kijima 2005:16155736}" "" "1-56C>T" "" "Germline" "no" "" "0" "" "" "g.76302657C>T" "" "benign" "" "0000087414" "1" "10" "7" "75933112" "75933112" "subst" "3.69313E-5" "00006" "HSPB1_000022" "g.75933112C>T" "?" "{PMID:Kijima 2005:16155736}" "" "" "" "Germline" "no" "" "0" "" "" "g.76303795C>T" "" "benign" "" "0000087415" "1" "30" "7" "75932137" "75932137" "subst" "2.19995E-5" "00006" "HSPB1_000020" "g.75932137C>G" "?" "{PMID:Kijima 2005:16155736}" "" "" "" "Germline" "no" "" "0" "" "" "g.76302820C>G" "" "likely benign" "" "0000087416" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Houlden 2008:18832141, {OMIM602195:0001}" "" "C525G" "" "Germline" "yes" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000087417" "0" "90" "7" "75932279" "75932279" "subst" "6.99027E-6" "00006" "HSPB1_000005" "g.75932279G>C" "" "{PMID:Houlden 2008:18832141}" "" "G250C" "" "Germline" "yes" "" "0" "" "" "g.76302962G>C" "" "pathogenic" "" "0000087418" "1" "90" "7" "75933172" "75933172" "subst" "0" "00006" "HSPB1_000011" "g.75933172C>G" "" "{PMID:Houlden 2008:18832141}, {OMIM602195:0007}" "" "C404T" "" "Germline" "yes" "rs121909112" "0" "" "" "g.76303855C>G" "" "pathogenic" "" "0000087419" "1" "90" "7" "75933172" "75933172" "subst" "0" "00006" "HSPB1_000011" "g.75933172C>G" "" "{PMID:Houlden 2008:18832141}, {OMIM602195:0007}" "" "C404T" "" "Germline" "yes" "rs121909112" "0" "" "" "g.76303855C>G" "" "pathogenic" "" "0000119749" "0" "50" "7" "75933442" "75933442" "subst" "7.46714E-5" "01692" "HSPB1_000023" "g.75933442G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.76304125G>C" "" "VUS" "" "0000119750" "0" "50" "7" "75933482" "75933482" "dup" "0" "01692" "HSPB1_000024" "g.75933482dup" "" "" "" "610dupG" "" "Germline" "" "" "0" "" "" "g.76304165dup" "" "VUS" "" "0000277788" "0" "30" "7" "75932011" "75932011" "subst" "0.00142861" "02330" "HSPB1_000025" "g.75932011C>T" "" "" "" "HSPB1(NM_001540.5):c.-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76302694C>T" "" "likely benign" "" "0000277789" "0" "30" "7" "75932207" "75932207" "subst" "0.0015759" "02330" "HSPB1_000026" "g.75932207C>T" "" "" "" "HSPB1(NM_001540.3):c.178C>T (p.P60S), HSPB1(NM_001540.5):c.178C>T (p.P60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76302890C>T" "" "likely benign" "" "0000277790" "0" "90" "7" "75933158" "75933158" "subst" "0" "02330" "HSPB1_000028" "g.75933158C>A" "" "" "" "HSPB1(NM_001540.5):c.404C>A (p.S135Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76303841C>A" "" "pathogenic" "" "0000277791" "0" "90" "7" "75933158" "75933158" "subst" "0" "02330" "HSPB1_000009" "g.75933158C>T" "" "" "" "HSPB1(NM_001540.5):c.404C>T (p.S135F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic" "" "0000277792" "0" "90" "7" "75933160" "75933160" "subst" "4.09413E-6" "02330" "HSPB1_000010" "g.75933160C>T" "" "" "" "HSPB1(NM_001540.5):c.406C>T (p.R136W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76303843C>T" "" "pathogenic" "" "0000277793" "0" "90" "7" "75933324" "75933324" "subst" "0" "02330" "HSPB1_000013" "g.75933324C>T" "" "" "" "HSPB1(NM_001540.5):c.452C>T (p.T151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76304007C>T" "" "pathogenic" "" "0000277794" "0" "70" "7" "75933416" "75933416" "subst" "0" "02330" "HSPB1_000016" "g.75933416C>T" "" "" "" "HSPB1(NM_001540.5):c.544C>T (p.P182S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76304099C>T" "" "likely pathogenic" "" "0000277795" "0" "70" "7" "75933417" "75933417" "subst" "0" "02330" "HSPB1_000017" "g.75933417C>T" "" "" "" "HSPB1(NM_001540.5):c.545C>T (p.P182L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76304100C>T" "" "likely pathogenic" "" "0000277796" "0" "10" "7" "75932038" "75932038" "subst" "0.00365486" "02330" "HSPB1_000004" "g.75932038G>A" "" "" "" "HSPB1(NM_001540.3):c.9G>A (p.E3=), HSPB1(NM_001540.5):c.9G>A (p.E3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76302721G>A" "" "benign" "" "0000285138" "0" "30" "7" "75932403" "75932403" "subst" "0" "02326" "HSPB1_000027" "g.75932403C>G" "" "" "" "HSPB1(NM_001540.3):c.364+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76303086C>G" "" "likely benign" "" "0000343984" "0" "50" "7" "75933470" "75933470" "subst" "1.67184E-5" "02327" "HSPB1_000029" "g.75933470G>A" "" "" "" "HSPB1(NM_001540.5):c.598G>A (p.D200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76304153G>A" "" "VUS" "" "0000440048" "0" "70" "7" "75932279" "75932279" "subst" "0" "01164" "HSPB1_000030" "g.75932279G>A" "" "" "" "" "ACMG grading: PP5,PM2,PS3,PP3,PP1; reported in PMID: 18344398, 18832141, 21892769, 25429913, 18344398, 23948568" "Germline" "" "" "0" "" "" "g.76302962G>A" "" "likely pathogenic" "ACMG" "0000454961" "1" "90" "7" "75932279" "75932279" "subst" "0" "00006" "HSPB1_000030" "g.75932279G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.76302962G>A" "" "pathogenic" "" "0000454962" "1" "70" "7" "75932331" "75932331" "subst" "0" "00006" "HSPB1_000031" "g.75932331T>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pp2, pp3" "Germline" "yes" "" "0" "" "" "g.76303014T>C" "" "likely pathogenic" "ACMG" "0000532667" "0" "30" "7" "75932053" "75932053" "subst" "0.0004196" "02330" "HSPB1_000032" "g.75932053C>T" "" "" "" "HSPB1(NM_001540.5):c.24C>T (p.F8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76302736C>T" "" "likely benign" "" "0000532668" "0" "90" "7" "75933133" "75933133" "subst" "0" "02330" "HSPB1_000007" "g.75933133C>T" "" "" "" "HSPB1(NM_001540.5):c.379C>T (p.R127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303816C>T" "" "pathogenic" "" "0000532669" "0" "50" "7" "75933174" "75933175" "del" "0" "02330" "HSPB1_000033" "g.75933174_75933175del" "" "" "" "HSPB1(NM_001540.5):c.420_421delGA (p.K141Ifs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303857_76303858del" "" "VUS" "" "0000532670" "0" "90" "7" "75933175" "75933175" "subst" "0" "02330" "HSPB1_000012" "g.75933175A>C" "" "" "" "HSPB1(NM_001540.5):c.421A>C (p.K141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303858A>C" "" "pathogenic" "" "0000532671" "0" "50" "7" "75933176" "75933177" "ins" "0" "02330" "HSPB1_000034" "g.75933176_75933177insTT" "" "" "" "HSPB1(NM_001540.5):c.422_423insTT (p.K141Nfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303859_76303860insTT" "" "VUS" "" "0000532672" "0" "30" "7" "75933310" "75933310" "subst" "1.22478E-5" "02330" "HSPB1_000035" "g.75933310C>G" "" "" "" "HSPB1(NM_001540.5):c.438C>G (p.P146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303993C>G" "" "likely benign" "" "0000532673" "0" "10" "7" "75933501" "75933501" "subst" "0.0148446" "02330" "HSPB1_000036" "g.75933501C>T" "" "" "" "HSPB1(NM_001540.5):c.*11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76304184C>T" "" "benign" "" "0000595625" "0" "50" "7" "75933172" "75933172" "subst" "0" "01364" "HSPB1_000011" "g.75933172C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.76303855C>G" "" "VUS" "" "0000611200" "0" "30" "7" "75932038" "75932038" "subst" "0.00365486" "01943" "HSPB1_000004" "g.75932038G>A" "" "" "" "HSPB1(NM_001540.3):c.9G>A (p.E3=), HSPB1(NM_001540.5):c.9G>A (p.E3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76302721G>A" "" "likely benign" "" "0000611201" "0" "50" "7" "75933112" "75933112" "subst" "0.000160035" "01943" "HSPB1_000002" "g.75933112C>G" "" "" "" "HSPB1(NM_001540.3):c.365-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303795C>G" "" "VUS" "" "0000611202" "0" "50" "7" "75933142" "75933142" "subst" "4.10055E-6" "02327" "HSPB1_000037" "g.75933142G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303825G>A" "" "VUS" "" "0000621924" "0" "30" "7" "75933284" "75933284" "subst" "0" "02330" "HSPB1_000038" "g.75933284C>T" "" "" "" "HSPB1(NM_001540.5):c.429-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76303967C>T" "" "likely benign" "" "0000660447" "0" "70" "7" "75933324" "75933324" "subst" "0" "01164" "HSPB1_000013" "g.75933324C>T" "" "" "" "" "" "Germline" "" "rs28937568" "0" "" "" "g.76304007C>T" "" "likely pathogenic" "" "0000664010" "0" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs29001571" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000664011" "0" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000664012" "0" "90" "7" "75933324" "75933324" "subst" "0" "00006" "HSPB1_000013" "g.75933324C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs28937568" "0" "" "" "g.76304007C>T" "" "pathogenic (dominant)" "" "0000664072" "0" "70" "7" "75932074" "75932074" "subst" "0" "00006" "HSPB1_000039" "g.75932074C>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.76302757C>A" "" "likely pathogenic (dominant)" "" "0000664073" "0" "70" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "likely pathogenic (dominant)" "" "0000664128" "0" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs28939680" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000697596" "0" "70" "7" "75932279" "75932279" "subst" "6.99027E-6" "00006" "HSPB1_000005" "g.75932279G>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.76302962G>C" "" "likely pathogenic" "" "0000708993" "1" "90" "7" "75933362" "75933362" "subst" "0" "00006" "HSPB1_000040" "g.75933362A>G" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "" "0" "" "" "g.76304045A>G" "" "pathogenic (dominant)" "" "0000760132" "0" "70" "7" "75933310" "75933310" "dup" "0" "01164" "HSPB1_000041" "g.75933310dup" "" "" "" "" "ACMG PVS1_STR, PS4_SUP, PM2_SUP; PMID: 28144995, 29381233, 22734906" "Germline" "?" "" "0" "" "" "g.76303993dup" "{CV:000916358}" "likely pathogenic (dominant)" "ACMG" "0000760539" "1" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760540" "1" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760541" "0" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000760542" "0" "70" "7" "75932187" "75932187" "subst" "0" "00006" "HSPB1_000043" "g.75932187G>A" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302870G>A" "" "likely pathogenic (dominant)" "" "0000760543" "1" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760544" "1" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760545" "0" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000760546" "0" "90" "7" "75933324" "75933324" "subst" "0" "00006" "HSPB1_000013" "g.75933324C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304007C>T" "" "pathogenic (dominant)" "" "0000760547" "0" "70" "7" "75933137" "75933137" "subst" "4.9209E-5" "00006" "HSPB1_000046" "g.75933137A>G" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303820A>G" "" "likely pathogenic (dominant)" "" "0000760548" "0" "70" "7" "75932048" "75932048" "subst" "0" "00006" "HSPB1_000042" "g.75932048C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302731C>T" "" "likely pathogenic (dominant)" "" "0000760549" "0" "90" "7" "75932194" "75932200" "dup" "0" "00006" "HSPB1_000044" "g.75932194_75932200dup" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302877_76302883dup" "" "pathogenic (dominant)" "" "0000760550" "0" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760551" "0" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "De novo" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760552" "0" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760553" "0" "70" "7" "75932209" "75932209" "dup" "0" "00006" "HSPB1_000045" "g.75932209dup" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302892dup" "" "likely pathogenic (dominant)" "" "0000760554" "0" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760555" "0" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760556" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760557" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760558" "0" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000760559" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000760560" "1" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000760561" "0" "70" "7" "75933432" "75933432" "subst" "4.13138E-6" "00006" "HSPB1_000048" "g.75933432C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "De novo" "" "" "0" "" "" "g.76304115C>T" "" "likely pathogenic (dominant)" "" "0000760562" "0" "90" "7" "75932145" "75932145" "subst" "0" "00006" "HSPB1_000018" "g.75932145C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76302828C>T" "" "pathogenic (dominant)" "" "0000760563" "0" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000760564" "0" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "De novo" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000760565" "1" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000760566" "1" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000760567" "0" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "De novo" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000760568" "0" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" "0000760569" "0" "90" "7" "75933158" "75933158" "subst" "0" "00006" "HSPB1_000009" "g.75933158C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76303841C>T" "" "pathogenic (dominant)" "" "0000760570" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760571" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760572" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760573" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760574" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760575" "1" "90" "7" "75933395" "75933395" "subst" "4.10384E-6" "00006" "HSPB1_000047" "g.75933395C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "Germline" "" "" "0" "" "" "g.76304078C>T" "" "pathogenic (dominant)" "" "0000760576" "0" "90" "7" "75933411" "75933411" "subst" "0" "00006" "HSPB1_000015" "g.75933411C>T" "" "{PMID:Echaniz-Laguna 2017:28144995}" "" "" "" "De novo" "" "" "0" "" "" "g.76304094C>T" "" "pathogenic (dominant)" "" "0000787300" "0" "50" "7" "75933137" "75933137" "subst" "4.9209E-5" "00006" "HSPB1_000046" "g.75933137A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs558882005" "0" "" "" "g.76303820A>G" "" "VUS" "" "0000787301" "0" "50" "7" "75933312" "75933312" "subst" "0" "00006" "HSPB1_000049" "g.75933312G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.76303995G>A" "" "VUS" "" "0000803246" "0" "30" "7" "75932207" "75932207" "subst" "0.0015759" "02326" "HSPB1_000026" "g.75932207C>T" "" "" "" "HSPB1(NM_001540.3):c.178C>T (p.P60S), HSPB1(NM_001540.5):c.178C>T (p.P60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803247" "0" "50" "7" "75933169" "75933169" "subst" "0" "02330" "HSPB1_000050" "g.75933169A>G" "" "" "" "HSPB1(NM_001540.5):c.415A>G (p.T139A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000832415" "0" "90" "7" "75933442" "75933442" "subst" "7.46714E-5" "04188" "HSPB1_000023" "g.75933442G>C" "" "{PMID:Ferese 2021:34354735}" "" "" "ACMG: PM1-PM2-PP2-PP3" "Unknown" "" "" "" "" "" "g.76304125G>C" "SCV001424520" "likely pathogenic (dominant)" "ACMG" "0000851671" "0" "30" "7" "75932038" "75932038" "subst" "0.00365486" "02326" "HSPB1_000004" "g.75932038G>A" "" "" "" "HSPB1(NM_001540.3):c.9G>A (p.E3=), HSPB1(NM_001540.5):c.9G>A (p.E3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860906" "0" "50" "7" "75933470" "75933470" "subst" "1.67184E-5" "02330" "HSPB1_000029" "g.75933470G>A" "" "" "" "HSPB1(NM_001540.5):c.598G>A (p.D200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887976" "0" "30" "7" "75933403" "75933403" "subst" "4.92769E-5" "02330" "HSPB1_000051" "g.75933403C>T" "" "" "" "HSPB1(NM_001540.5):c.531C>T (p.N177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924755" "0" "30" "7" "75933482" "75933482" "subst" "0.000153404" "02326" "HSPB1_000052" "g.75933482G>A" "" "" "" "HSPB1(NM_001540.3):c.610G>A (p.A204T), HSPB1(NM_001540.5):c.610G>A (p.A204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927616" "0" "50" "7" "75933149" "75933149" "subst" "0" "01741" "HSPB1_000053" "g.75933149G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.76303832G>T" "" "VUS" "ACMG" "0000929376" "0" "90" "7" "75933133" "75933133" "subst" "0" "02327" "HSPB1_000007" "g.75933133C>T" "" "" "" "HSPB1(NM_001540.5):c.379C>T (p.R127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996663" "0" "30" "7" "75933482" "75933482" "subst" "0.000153404" "02330" "HSPB1_000052" "g.75933482G>A" "" "" "" "HSPB1(NM_001540.3):c.610G>A (p.A204T), HSPB1(NM_001540.5):c.610G>A (p.A204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014380" "0" "90" "7" "75932145" "75932145" "subst" "0" "02330" "HSPB1_000018" "g.75932145C>T" "" "" "" "HSPB1(NM_001540.5):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014381" "0" "10" "7" "75933445" "75933445" "subst" "0.000394364" "02330" "HSPB1_000054" "g.75933445T>C" "" "" "" "HSPB1(NM_001540.3):c.573T>C (p.L191=), HSPB1(NM_001540.5):c.573T>C (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025430" "0" "30" "7" "75933445" "75933445" "subst" "0.000394364" "02326" "HSPB1_000054" "g.75933445T>C" "" "" "" "HSPB1(NM_001540.3):c.573T>C (p.L191=), HSPB1(NM_001540.5):c.573T>C (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045058" "0" "90" "7" "75932145" "75932145" "subst" "0" "03779" "HSPB1_000018" "g.75932145C>T" "" "" "" "" "" "Unknown" "" "rs557327165" "0" "" "" "" "" "pathogenic" "" "0001045070" "0" "90" "7" "75932145" "75932145" "subst" "0" "03779" "HSPB1_000018" "g.75932145C>T" "" "" "" "" "" "Unknown" "" "rs557327165" "0" "" "" "" "" "pathogenic" "" "0001047259" "0" "70" "7" "75933344" "75933344" "del" "0" "01164" "HSPB1_000055" "g.75933344del" "" "" "" "" "ACMG: PVS1-strong,PS4-supporting,PM2-supporting,PP5-supporting" "Germline" "?" "" "0" "" "" "g.76304027del" "VCV002035012.3" "likely pathogenic (dominant)" "ACMG" "0001064733" "0" "50" "7" "75933310" "75933310" "dup" "0" "02325" "HSPB1_000041" "g.75933310dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069119" "0" "70" "7" "75933161" "75933161" "subst" "4.0951E-6" "00006" "HSPB1_000057" "g.75933161G>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS4_mod, PM1, PM2, PM5, PP3, PP2" "Germline" "" "" "0" "" "" "g.76303844G>T" "SCV006074987" "likely pathogenic" "ACMG" "0001069249" "0" "90" "7" "75933161" "75933161" "subst" "0" "00006" "HSPB1_000058" "g.75933161G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PM5_str, PP2, PP3, PP5" "Germline" "" "" "0" "" "" "g.76303844G>A" "SCV006074986" "pathogenic" "ACMG" "0001069294" "0" "70" "7" "75932279" "75932279" "subst" "0" "00006" "HSPB1_000030" "g.75932279G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3, PP5, PS1, PM5" "Germline" "" "" "0" "" "" "g.76302962G>A" "SCV006075152" "likely pathogenic" "ACMG" "0001069558" "0" "70" "7" "75932138" "75932138" "dup" "0" "00006" "HSPB1_000056" "g.75932138dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.76302821dup" "SCV006074985" "likely pathogenic" "ACMG" "0001069584" "0" "90" "7" "75933324" "75933324" "subst" "0" "00006" "HSPB1_000013" "g.75933324C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PS4, PP3, PP2, PP1, PP5" "Germline" "" "" "0" "" "" "g.76304007C>T" "SCV006074988" "pathogenic" "ACMG" "0001069887" "0" "90" "7" "75932279" "75932279" "subst" "0" "00006" "HSPB1_000030" "g.75932279G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3, PM5, PP5, PS1, PM1" "Germline" "" "" "0" "" "" "g.76302962G>A" "SCV006075163" "pathogenic" "ACMG" "0001073149" "0" "90" "7" "75933161" "75933161" "subst" "0" "00006" "HSPB1_000058" "g.75933161G>A" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.76303844G>A" "" "pathogenic (dominant)" "" "0001073172" "0" "90" "7" "75932279" "75932279" "subst" "6.99027E-6" "00006" "HSPB1_000005" "g.75932279G>C" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.76302962G>C" "" "pathogenic (dominant)" "" "0001073563" "0" "90" "7" "75933133" "75933133" "subst" "0" "00006" "HSPB1_000007" "g.75933133C>T" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.76303816C>T" "" "pathogenic (dominant)" "" ## 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 HSPB1 ## Count = 136 "{{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}}" "0000063144" "00009695" "50" "428" "33" "428" "47" "c.428+33_428+47del" "r.(spl?)" "p.(?)" "2i" "0000063145" "00009695" "50" "365" "-7" "365" "-7" "c.365-7C>G" "r.(=)" "p.(=)" "1i" "0000063146" "00009695" "10" "365" "-60" "365" "-60" "c.365-60C>T" "r.(?)" "p.(=)" "1i" "0000063147" "00009695" "10" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Glu3=)" "1" "0000086660" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "1" "0000086661" "00009695" "90" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Gly84Arg)" "1" "0000086662" "00009695" "70" "295" "0" "295" "0" "c.295C>A" "r.(?)" "p.(Leu99Met)" "1" "0000086663" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "2" "0000086664" "00009695" "90" "404" "0" "404" "0" "c.404C>G" "r.(?)" "p.(Ser135Cys)" "2" "0000086665" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000086666" "00009695" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Trp)" "2" "0000086667" "00009695" "90" "418" "0" "418" "0" "c.418C>G" "r.(?)" "p.(Arg140Gly)" "2" "0000086668" "00009695" "90" "421" "0" "421" "0" "c.421A>C" "r.(?)" "p.(Lys141Gln)" "2" "0000086669" "00009695" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "3" "0000086670" "00009695" "90" "476" "0" "477" "0" "c.476_477del" "r.(?)" "p.(Pro159Argfs*42)" "3" "0000086671" "00009695" "90" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Thr180Ile)" "3" "0000086672" "00009695" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Pro182Ser)" "3" "0000086673" "00009695" "90" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "3" "0000086738" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000086739" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000086740" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000086741" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000086742" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000087410" "00009695" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "2" "0000087411" "00009695" "30" "365" "-13" "365" "-13" "c.365-13C>T" "r.(?)" "p.(=)" "1i" "0000087413" "00009695" "10" "-56" "0" "-56" "0" "c.-56C>T" "r.(?)" "p.(=)" "1" "0000087414" "00009695" "10" "365" "-7" "365" "-7" "c.365-7C>T" "r.(?)" "p.(=)" "1i" "0000087415" "00009695" "30" "108" "0" "108" "0" "c.108C>G" "r.(?)" "p.(Pro36=)" "1" "0000087416" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "2" "0000087417" "00009695" "90" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Gly84Arg)" "1" "0000087418" "00009695" "90" "418" "0" "418" "0" "c.418C>G" "r.(?)" "p.(Arg140Gly)" "2" "0000087419" "00009695" "90" "418" "0" "418" "0" "c.418C>G" "r.(?)" "p.(Arg140Gly)" "2" "0000119749" "00009695" "50" "570" "0" "570" "0" "c.570G>C" "r.(?)" "p.(Gln190His)" "3" "0000119750" "00009695" "50" "610" "0" "610" "0" "c.610dup" "r.(?)" "p.(Ala204Glyfs*6)" "3" "0000277788" "00009695" "30" "-19" "0" "-19" "0" "c.-19C>T" "r.(?)" "p.(=)" "" "0000277789" "00009695" "30" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Pro60Ser)" "" "0000277790" "00009695" "90" "404" "0" "404" "0" "c.404C>A" "r.(?)" "p.(Ser135Tyr)" "" "0000277791" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000277792" "00009695" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Trp)" "" "0000277793" "00009695" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "" "0000277794" "00009695" "70" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Pro182Ser)" "" "0000277795" "00009695" "70" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Pro182Leu)" "" "0000277796" "00009695" "10" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Glu3=)" "" "0000285138" "00009695" "30" "364" "10" "364" "10" "c.364+10C>G" "r.(=)" "p.(=)" "" "0000343984" "00009695" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Asp200Asn)" "" "0000440048" "00009695" "70" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.Gly84Arg" "" "0000454961" "00009695" "90" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Arg)" "" "0000454962" "00009695" "70" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Val101Ala)" "" "0000532667" "00009695" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Phe8=)" "" "0000532668" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000532669" "00009695" "50" "420" "0" "421" "0" "c.420_421del" "r.(?)" "p.(Lys141IlefsTer19)" "" "0000532670" "00009695" "90" "421" "0" "421" "0" "c.421A>C" "r.(?)" "p.(Lys141Gln)" "" "0000532671" "00009695" "50" "422" "0" "423" "0" "c.422_423insTT" "r.(?)" "p.(Lys141AsnfsTer24)" "" "0000532672" "00009695" "30" "438" "0" "438" "0" "c.438C>G" "r.(?)" "p.(Pro146=)" "" "0000532673" "00009695" "10" "629" "0" "629" "0" "c.*11C>T" "r.(=)" "p.(=)" "" "0000595625" "00009695" "50" "418" "0" "418" "0" "c.418C>G" "r.(?)" "p.(Arg140Gly)" "" "0000611200" "00009695" "30" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Glu3=)" "" "0000611201" "00009695" "50" "365" "-7" "365" "-7" "c.365-7C>G" "r.(=)" "p.(=)" "" "0000611202" "00009695" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Glu130Lys)" "" "0000621924" "00009695" "30" "429" "-17" "429" "-17" "c.429-17C>T" "r.(=)" "p.(=)" "" "0000660447" "00009695" "70" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "" "0000664010" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000664011" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000664012" "00009695" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "" "0000664072" "00009695" "70" "45" "0" "45" "0" "c.45C>A" "r.(?)" "p.(Ser15Arg)" "" "0000664073" "00009695" "70" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000664128" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000697596" "00009695" "70" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Gly84Arg)" "" "0000708993" "00009695" "90" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Thr164Ala)" "" "0000760132" "00009695" "70" "438" "0" "438" "0" "c.438dup" "r.(?)" "p.(Gly147Argfs*14)" "" "0000760539" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760540" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760541" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000760542" "00009695" "70" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "" "0000760543" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760544" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760545" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000760546" "00009695" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "" "0000760547" "00009695" "70" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Gln128Arg)" "" "0000760548" "00009695" "70" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Pro7Ser)" "" "0000760549" "00009695" "90" "165" "0" "171" "0" "c.165_171dup" "r.(?)" "p.(Leu58AlafsTer105)" "" "0000760550" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760551" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760552" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760553" "00009695" "70" "180" "0" "180" "0" "c.180dup" "r.(?)" "p.(Ala61ArgfsTer100)" "" "0000760554" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760555" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760556" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760557" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760558" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000760559" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000760560" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000760561" "00009695" "70" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Leu)" "" "0000760562" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000760563" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000760564" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000760565" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000760566" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000760567" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000760568" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000760569" "00009695" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Phe)" "" "0000760570" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760571" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760572" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760573" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760574" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760575" "00009695" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000760576" "00009695" "90" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Thr180Ile)" "" "0000787300" "00009695" "50" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Gln128Arg)" "2" "0000787301" "00009695" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Gly147Asp)" "3" "0000803246" "00009695" "30" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Pro60Ser)" "" "0000803247" "00009695" "50" "415" "0" "415" "0" "c.415A>G" "r.(?)" "p.(Thr139Ala)" "" "0000832415" "00009695" "90" "570" "0" "570" "0" "c.570G>C" "r.(?)" "p.(Gln190His)" "" "0000851671" "00009695" "30" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Glu3=)" "" "0000860906" "00009695" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Asp200Asn)" "" "0000887976" "00009695" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Asn177=)" "" "0000924755" "00009695" "30" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "0000927616" "00009695" "50" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Gly132Val)" "2" "0000929376" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000996663" "00009695" "30" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "0001014380" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0001014381" "00009695" "10" "573" "0" "573" "0" "c.573T>C" "r.(?)" "p.(=)" "" "0001025430" "00009695" "30" "573" "0" "573" "0" "c.573T>C" "r.(?)" "p.(=)" "" "0001045058" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0001045070" "00009695" "90" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0001047259" "00009695" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Ser158Profs*6)" "3" "0001064733" "00009695" "50" "438" "0" "438" "0" "c.438dup" "r.(?)" "p.(Gly147Argfs*14)" "" "0001069119" "00009695" "70" "407" "0" "407" "0" "c.407G>T" "r.(?)" "p.(Arg136Leu)" "" "0001069249" "00009695" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "0001069294" "00009695" "70" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Arg)" "" "0001069558" "00009695" "70" "109" "0" "109" "0" "c.109dup" "r.(?)" "p.(Arg37ProfsTer124)" "" "0001069584" "00009695" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Thr151Ile)" "" "0001069887" "00009695" "90" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Arg)" "" "0001073149" "00009695" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "2" "0001073172" "00009695" "90" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Gly84Arg)" "1" "0001073563" "00009695" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 100 "{{screeningid}}" "{{variantid}}" "0000036019" "0000063144" "0000036020" "0000063145" "0000036021" "0000063146" "0000036022" "0000063147" "0000056413" "0000086660" "0000056414" "0000086661" "0000056415" "0000086662" "0000056416" "0000086663" "0000056417" "0000086664" "0000056418" "0000086665" "0000056419" "0000086666" "0000056420" "0000086667" "0000056421" "0000086668" "0000056422" "0000086669" "0000056423" "0000086670" "0000056424" "0000086671" "0000056425" "0000086672" "0000056426" "0000086673" "0000056457" "0000086738" "0000056458" "0000086739" "0000056459" "0000086740" "0000056460" "0000086741" "0000056461" "0000086742" "0000057123" "0000087410" "0000057124" "0000087411" "0000057126" "0000087413" "0000057127" "0000087414" "0000057128" "0000087415" "0000057129" "0000087416" "0000057130" "0000087417" "0000057131" "0000087418" "0000057132" "0000087419" "0000074695" "0000119749" "0000074696" "0000119750" "0000209828" "0000440048" "0000220068" "0000454961" "0000220069" "0000454962" "0000265042" "0000595625" "0000297784" "0000660447" "0000301115" "0000664010" "0000301116" "0000664011" "0000301117" "0000664012" "0000301177" "0000664072" "0000301178" "0000664073" "0000301233" "0000664128" "0000315507" "0000697596" "0000325833" "0000708993" "0000360241" "0000760132" "0000360513" "0000760539" "0000360514" "0000760540" "0000360515" "0000760541" "0000360516" "0000760542" "0000360517" "0000760543" "0000360518" "0000760544" "0000360519" "0000760545" "0000360520" "0000760546" "0000360521" "0000760547" "0000360522" "0000760548" "0000360523" "0000760549" "0000360524" "0000760550" "0000360525" "0000760551" "0000360526" "0000760552" "0000360527" "0000760553" "0000360528" "0000760554" "0000360529" "0000760555" "0000360530" "0000760556" "0000360531" "0000760557" "0000360532" "0000760558" "0000360533" "0000760559" "0000360534" "0000760560" "0000360535" "0000760561" "0000360536" "0000760562" "0000360537" "0000760563" "0000360538" "0000760564" "0000360539" "0000760565" "0000360540" "0000760566" "0000360541" "0000760567" "0000360542" "0000760568" "0000360543" "0000760569" "0000360544" "0000760570" "0000360545" "0000760571" "0000360546" "0000760572" "0000360547" "0000760573" "0000360548" "0000760574" "0000360549" "0000760575" "0000360550" "0000760576" "0000375949" "0000787300" "0000375950" "0000787301" "0000399743" "0000832415" "0000436583" "0000927616" "0000467865" "0001047259" "0000474721" "0001069119" "0000474851" "0001069249" "0000474896" "0001069294" "0000475162" "0001069558" "0000475188" "0001069584" "0000475493" "0001069887" "0000477762" "0001073149" "0000477785" "0001073172" "0000478176" "0001073563"