### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = REEP1) # 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}}" "REEP1" "receptor accessory protein 1" "2" "p11.2" "unknown" "NG_013037.1" "UD_132118778130" "" "http://www.LOVD.nl/REEP1" "" "1" "25786" "65055" "609139" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.\r\nWe gratefully acknowledge the role of Christian Beetz in curating this database (2016-2018)." "" "g" "http://databases.lovd.nl/shared/refseq/REEP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-20 18:30:11" "00000" "2025-07-08 13:22:38" ## 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}}" "00017606" "REEP1" "transcript variant 2" "004" "NM_022912.2" "" "NP_075063.1" "" "" "" "-144" "3713" "606" "86564777" "86441116" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "02921" "SPG31" "paraplegia, spastic, autosomal dominant, type 31 (SPG-31)" "AD" "610250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03723" "HMN5B" "neuropathy, motor, distal, hereditary, type Vb (HMN-5B)" "AD" "614751" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "REEP1" "02921" "REEP1" "03723" ## Individuals ## Do not remove or alter this header ## ## Count = 272 "{{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}}" "00039355" "" "" "" "1" "" "01330" "{PMID:Lynch 2015:26374131}, {DOI:Lynch 2015:10.1038/ejhg.2015.200}" "single patient" "M" "" "Greece" ">22y" "0" "" "" "" "" "00063255" "" "" "" "1" "" "00006" "{PMID:Züchner 2006:16826527}" "2-generation family, 1 affected, parents not tested" "M" "" "United States" "" "0" "" "" "European" "" "00063256" "" "" "" "2" "" "00006" "{PMID:Züchner 2006:16826527}" "2-generation family, 2 affecteds" "" "" "United States" "" "0" "" "" "European" "" "00090126" "" "" "" "1" "" "01500" "ms in preparation" "" "M" "" "" "" "0" "" "" "" "" "00094022" "" "" "" "2" "" "01500" "{PMID:Züchner 2006:16826527 }" "2-generation family, 2 affecteds" "F" "" "" "" "0" "" "" "" "" "00094023" "" "" "00094022" "1" "" "01500" "{PMID:Züchner 2006:16826527 }" "2-generation family, 2 affecteds" "M" "" "" "" "0" "" "" "" "" "00094027" "" "" "" "8" "" "01500" "{PMID:Züchner 2006:16826527}, {PMID:Züchner 2006:16565863}" "3-generation family, 7 affecteds" "M" "" "United States" "" "0" "" "" "" "" "00094028" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "F" "" "" "" "0" "" "" "" "" "00094029" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094030" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094031" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094032" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094033" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094034" "" "" "00094027" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094035" "" "" "" "8" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094036" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094037" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094038" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094039" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094040" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094041" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094042" "" "" "00094035" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "2-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094043" "" "" "" "16" "" "01500" "{PMID:Züchner 2006:16826527}" "4-generation family, 15 affected (10F, 5M) and 1 (F) with unclear clinical status" "F" "" "United States" "" "0" "" "" "" "" "00094044" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094045" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094046" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094047" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094048" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094049" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094050" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094051" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "M" "" "" "" "0" "" "" "" "" "00094052" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "M" "" "" "" "0" "" "" "" "" "00094053" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "M" "" "" "" "0" "" "" "" "" "00094054" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094055" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "M" "" "" "" "0" "" "" "" "" "00094056" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "M" "" "" "" "0" "" "" "" "" "00094057" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094058" "" "" "00094043" "1" "" "01500" "{PMID:Züchner 2006:16826527}" "3-generation family, 16 affecteds" "F" "" "" "" "0" "" "" "" "" "00094059" "" "" "" "4" "" "01500" "{PMID:Beetz 2008: 18321925}" "4-generation family, 3 affecteds, 1 unaffected carrier" "M" "" "Belgium" "" "0" "" "" "" "" "00094060" "" "" "00094059" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "4-generation family, 3 affecteds, 1 unaffected carrier" "M" "" "Belgium" "" "0" "" "" "" "" "00094061" "" "" "00094059" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "4-generation family, 3 affecteds, 1 unaffected carrier" "F" "" "Belgium" "" "0" "" "" "" "" "00094062" "" "" "00094059" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "4-generation family, 3 affecteds, 1 unaffected carrier" "M" "" "Belgium" "" "0" "" "" "" "" "00094063" "" "" "" "6" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "M" "" "Spain" "" "0" "" "" "" "" "00094064" "" "" "00094063" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "F" "" "Spain" "" "0" "" "" "" "" "00094065" "" "" "00094063" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "M" "" "Spain" "" "0" "" "" "" "" "00094066" "" "" "00094063" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "M" "" "Spain" "" "0" "" "" "" "" "00094067" "" "" "00094063" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "M" "" "Spain" "" "0" "" "" "" "" "00094068" "" "" "00094063" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "M" "" "Spain" "" "0" "" "" "" "" "00094069" "" "" "00094063" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 6 affecteds, 1 unaffected carrier" "F" "" "Spain" "" "0" "" "" "" "" "00094070" "" "" "" "3" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 3 affecteds" "M" "" "Germany" "" "0" "" "" "" "" "00094071" "" "" "00094070" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 3 affecteds" "M" "" "Germany" "" "0" "" "" "" "" "00094072" "" "" "00094070" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 3 affecteds" "M" "" "Germany" "" "0" "" "" "" "" "00094075" "" "" "" "4" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094076" "" "" "00094075" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094077" "" "" "00094075" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094078" "" "" "00094075" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094079" "" "" "" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 1 affected, father wasn\'t tested" "F" "" "Germany" "" "0" "" "" "" "" "00094080" "" "" "" "5" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 5 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094081" "" "" "00094080" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 5 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094082" "" "" "00094080" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 5 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094083" "" "" "00094080" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 5 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094084" "" "" "00094080" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 5 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094085" "" "" "" "8" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094086" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094087" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094088" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094089" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094090" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094091" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094092" "" "" "00094085" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 8 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094093" "" "" "" "39" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094094" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094095" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094096" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094097" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094098" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094099" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094100" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094101" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094102" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094103" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094104" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094105" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094106" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094107" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094108" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094109" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094110" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094111" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094112" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094113" "" "" "00094093" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "21 affecteds out of 39 individuals genotyped" "?" "" "Netherlands" "" "0" "" "" "" "" "00094114" "" "" "" "2" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 2 affecteds" "M" "" "Belgium" "" "0" "" "" "" "" "00094115" "" "" "00094114" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "3-generation family, 2 affecteds" "M" "" "Belgium" "" "0" "" "" "" "" "00094117" "" "" "" "3" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 2 affecteds, 1 unaffected carriers" "F" "" "Germany" "" "0" "" "" "" "" "00094118" "" "" "00094117" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 2 affecteds, 1 unaffected carriers" "F" "" "Germany" "" "0" "" "" "" "" "00094119" "" "" "00094117" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 2 affecteds, 1 unaffected carriers" "F" "" "Germany" "" "0" "" "" "" "" "00094120" "" "" "" "3" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 2 affecteds" "M" "" "Ireland" "" "0" "" "" "" "" "00094121" "" "" "00094120" "1" "" "01500" "{PMID:Beetz 2008: 18321925}" "2-generation family, 2 affecteds" "F" "" "Ireland" "" "0" "" "" "" "" "00094122" "" "" "" "3" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 2 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094123" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094124" "" "" "" "3" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094125" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094126" "" "" "" "4" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094127" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds, only 1 tested" "F" "" "France" "" "0" "" "" "" "" "00094128" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094129" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094130" "" "" "" "5" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 5 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094131" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 5 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094132" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 5 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094133" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 5 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094134" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 5 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094135" "" "" "" "4" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094136" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094137" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094138" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 4 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094139" "" "" "" "3" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 3 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094140" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 3 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094141" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 3 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094142" "" "" "" "6" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094143" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094144" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094145" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094146" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094147" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094148" "" "" "" "2" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094149" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094150" "" "" "" "4" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds, only 1 tested" "F" "" "France" "" "0" "" "" "" "" "00094151" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds, only 1 tested" "F" "" "France" "" "0" "" "" "" "" "00094152" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094153" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094154" "" "" "" "6" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094155" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094156" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094157" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds, only 1 tested" "M" "" "France" "" "0" "" "" "" "" "00094158" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds, only 1 tested" "F" "" "France" "" "0" "" "" "" "" "00094159" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 6 affecteds, only 1 tested" "F" "" "France" "" "0" "" "" "" "" "00094160" "" "" "" "3" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 3 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094161" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 3 affecteds" "F" "" "France" "" "0" "" "" "" "" "00094162" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "3-generation family, 3 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094163" "" "" "" "4" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094164" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094165" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094166" "" "" "" "1" "" "01500" "{PMID:Goizet 2011:21618648}" "2-generation family, 4 affecteds" "M" "" "France" "" "0" "" "" "" "" "00094167" "" "" "" "2" "" "01500" "{PMID:Fisher 2013:24221643}" "father and son, MEPs tested" "M" "" "" "" "0" "" "" "" "" "00094168" "" "" "" "1" "" "01500" "{PMID:Fisher 2013:24221643}" "father and son, MEPs tested" "M" "" "" "" "0" "" "" "" "" "00094169" "" "" "" "8" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "F" "" "Netherlands" "" "0" "" "" "" "" "00094170" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094171" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094172" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094173" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094174" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "F" "" "Netherlands" "" "0" "" "" "" "" "00094175" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "F" "" "Netherlands" "" "0" "" "" "" "" "00094176" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "F" "" "Netherlands" "" "0" "" "" "" "" "00094177" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094178" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "4-generation family, 8 affecteds, 4 tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094179" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "1 affected de novo" "M" "" "Netherlands" "" "0" "" "" "" "" "00094180" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant in exon 7" "?" "" "" "" "0" "" "" "" "" "00094181" "" "" "" "2" "" "01500" "{PMID:Schlang 2008:18644145}" "father and daughter" "M" "" "" "" "0" "" "" "" "" "00094182" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "father and daughter" "F" "" "" "" "0" "" "" "" "" "00094183" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant 2 in exon 2" "?" "" "" "" "0" "" "" "" "" "00094184" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant in exon 3" "?" "" "" "" "0" "" "" "" "" "00094185" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant in exon 4" "?" "" "" "" "0" "" "" "" "" "00094186" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant 1 in exon 5" "?" "" "" "" "0" "" "" "" "" "00094187" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant 2 in exon 5" "?" "" "" "" "0" "" "" "" "" "00094188" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "variant 3 in exon 5" "?" "" "" "" "0" "" "" "" "" "00094189" "" "" "" "3" "" "01500" "{PMID:Schlang 2008:18644145}" "mother with 2 children" "F" "" "" "" "0" "" "" "" "" "00094190" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "mother with 2 children" "?" "" "" "" "0" "" "" "" "" "00094191" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "mother with 2 children" "?" "" "" "" "0" "" "" "" "" "00094192" "" "" "" "2" "" "01500" "{PMID:Schlang 2008:18644145}" "father and son" "M" "" "" "" "0" "" "" "" "" "00094193" "" "" "" "1" "" "01500" "{PMID:Schlang 2008:18644145}" "father and son" "M" "" "" "" "0" "" "" "" "" "00094194" "" "" "" "3" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "2-generation family, 3 affecteds" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094195" "" "" "" "1" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "2-generation family, 3 affecteds" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094196" "" "" "" "1" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "2-generation family, 3 affecteds" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094197" "" "" "" "3" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "3-generation family, 3 affecteds, 1 tested" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094198" "" "" "" "1" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "3-generation family, 3 affecteds, 1 tested" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094199" "" "" "" "1" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "3-generation family, 3 affecteds, 1 tested" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094200" "" "" "" "3" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "3-generation family, 3 affecteds" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094201" "" "" "" "1" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "3-generation family, 3 affecteds" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094202" "" "" "" "1" "" "01500" "{PMID:Hewamadduma 2009:19034539}" "3-generation family, 3 affecteds" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094203" "" "" "" "4" "" "01500" "{PMID:Beetz 2012:22703882}" "4-generation family, 4 affecteds" "?" "" "" "" "0" "" "" "" "" "00094204" "" "" "" "1" "" "01500" "{PMID:Beetz 2012:22703882}" "4-generation family, 4 affecteds" "?" "" "" "" "0" "" "" "" "" "00094205" "" "" "" "1" "" "01500" "{PMID:Beetz 2012:22703882}" "4-generation family, 4 affecteds" "?" "" "" "" "0" "" "" "" "" "00094206" "" "" "" "1" "" "01500" "{PMID:Beetz 2012:22703882}" "4-generation family, 4 affecteds" "?" "" "" "" "0" "" "" "" "" "00094207" "" "" "" "5" "" "01500" "{PMID:Schottmann 2015:27066569}" "2-generation family, homozygous patient" "M" "" "Lebanon" "" "0" "" "" "" "" "00094208" "" "" "" "1" "" "01500" "{PMID:Schottmann 2015:27066569}" "2-generation family, homozygous patient" "F" "" "Lebanon" "" "0" "" "" "" "" "00094209" "" "" "" "1" "" "01500" "{PMID:Schottmann 2015:27066569}" "2-generation family, homozygous patient" "M" "" "Lebanon" "" "0" "" "" "" "" "00094210" "" "" "" "1" "" "01500" "{PMID:Schottmann 2015:27066569}" "2-generation family, homozygous patient" "M" "" "Lebanon" "" "0" "" "" "" "" "00094211" "" "" "" "1" "" "01500" "{PMID:Schottmann 2015:27066569}" "2-generation family, homozygous patient" "M" "" "Lebanon" "" "0" "" "" "" "" "00094212" "" "" "" "3" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094213" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094214" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094215" "" "" "" "5" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "7 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094216" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "7 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094217" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "7 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094218" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "7 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094219" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "7 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094220" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "1 tested individual" "?" "" "Poland" "" "0" "" "" "" "" "00094221" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "1 tested individual" "?" "" "Poland" "" "0" "" "" "" "" "00094222" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "1 tested individual" "?" "" "Poland" "" "0" "" "" "" "" "00094223" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "1 tested individual" "?" "" "Poland" "" "0" "" "" "" "" "00094224" "" "" "" "3" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094225" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094226" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094227" "" "" "" "3" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094228" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094229" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 tested individuals" "?" "" "Poland" "" "0" "" "" "" "" "00094230" "" "" "" "1" "" "01500" "{PMID:Battini 2011:20550563}" "1 affected de novo" "?" "" "Italy" "" "0" "" "" "" "" "00094231" "" "" "" "10" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "M" "" "China" "" "0" "" "" "" "" "00094232" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "F" "" "China" "" "0" "" "" "" "" "00094233" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "F" "" "China" "" "0" "" "" "" "" "00094234" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "F" "" "China" "" "0" "" "" "" "" "00094235" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "F" "" "China" "" "0" "" "" "" "" "00094236" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "M" "" "China" "" "0" "" "" "" "" "00094237" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "F" "" "China" "" "0" "" "" "" "" "00094238" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "M" "" "China" "" "0" "" "" "" "" "00094239" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "M" "" "China" "" "0" "" "" "" "" "00094240" "" "" "" "1" "" "01500" "{PMID:Liu 2009:19072839}" "5-generation family, 10 affecteds" "M" "" "China" "" "0" "" "" "" "" "00094241" "" "" "" "1" "" "01500" "{PMID:Rocca 2011:22062632}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "" "00094242" "" "" "" "3" "" "01500" "{PMID:Erro 2014:24628902}" "3-generation family, 3 affecteds" "M" "" "" "" "0" "" "" "" "" "00094243" "" "" "" "1" "" "01500" "{PMID:Erro 2014:24628902}" "3-generation family, 3 affecteds" "F" "" "" "" "0" "" "" "" "" "00094244" "" "" "" "1" "" "01500" "{PMID:Erro 2014:24628902}" "3-generation family, 3 affecteds" "M" "" "" "" "0" "" "" "" "" "00094245" "" "" "" "4" "" "01500" "{PMID:de Bot 2010:21060088}" "3-generation family, 4 affecteds" "M" "" "" "" "0" "" "" "" "" "00094246" "" "" "" "1" "" "01500" "{PMID:de Bot 2010:21060088}" "3-generation family, 4 affecteds" "F" "" "" "" "0" "" "" "" "" "00094247" "" "" "" "1" "" "01500" "{PMID:de Bot 2010:21060088}" "3-generation family, 4 affecteds" "F" "" "" "" "0" "" "" "" "" "00094248" "" "" "" "1" "" "01500" "{PMID:de Bot 2010:21060088}" "3-generation family, 4 affecteds" "M" "" "" "" "0" "" "" "" "" "00094249" "" "" "" "1" "" "01500" "{PMID:Loureiro 2013:23400676}" "1 familiy out of 89" "?" "" "Portugal" "" "0" "" "" "" "" "00094250" "" "" "" "1" "" "01500" "{PMID:Ishiura 2014:24451228}" "variant in exon 2" "?" "" "Japan" "" "0" "" "" "" "" "00094251" "" "" "" "1" "" "01500" "{PMID:Ishiura 2014:24451228}" "variant intron 3 - intron 5" "?" "" "Japan" "" "0" "" "" "" "" "00094252" "" "" "" "2" "" "01500" "{PMID:Polymeris 2016:27260292}" "2-generation family, 2 affecteds" "M" "" "Greece" "" "0" "" "" "" "" "00094253" "" "" "" "1" "" "01500" "{PMID:Polymeris 2016:27260292}" "2-generation family, 2 affecteds" "M" "" "Greece" "" "0" "" "" "" "" "00094254" "" "" "" "1" "" "01500" "{PMID:Beetz 2013:24051375}" "del exon 2 in patient and mice" "M" "" "Spain" "" "0" "" "" "" "" "00132190" "" "" "" "1" "" "01500" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00143205" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00143810" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00148571" "" "" "" "1" "" "01741" "" "" "F" "" "" "" "0" "" "" "" "" "00183240" "" "" "" "5" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183279" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183280" "" "" "" "5" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183284" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183286" "" "" "" "5" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183287" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183289" "" "" "" "5" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183290" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183291" "" "" "" "5" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183292" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183294" "" "" "" "5" "" "01500" "" "" "?" "no" "Czech Republic" "" "0" "" "" "" "" "00183295" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183296" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183297" "" "" "" "5" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183298" "" "" "" "5" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183299" "" "" "" "6" "" "01500" "" "" "?" "no" "Czech Republic" "" "0" "" "" "" "" "00183300" "" "" "" "6" "" "01500" "" "" "?" "no" "Czech Republic" "" "0" "" "" "" "" "00183301" "" "" "" "6" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183302" "" "" "" "6" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183303" "" "" "" "6" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183304" "" "" "" "6" "" "01500" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00183305" "" "" "" "2" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183306" "" "" "" "2" "" "01500" "" "" "M" "no" "Czech Republic" "" "0" "" "" "" "" "00183307" "" "" "" "2" "" "01500" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00183308" "" "" "" "2" "" "01500" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00219076" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat86" "00276026" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00292847" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292848" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300089" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300141" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00305960" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00320068" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "171952" "00397838" "" "" "" "1" "" "04212" "{PMID:Kanwal 2021:34193129}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" ">02y" "0" "" "" "" "PaC6:IV-2" "00408688" "" "" "" "2" "" "00006" "{PMID:Thomas 2022:34085946}" "affected siblings" "" "no" "France" "" "0" "" "" "" "Pat33" "00450483" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, affected son/father" "M" "" "" "" "0" "" "" "" "F016.1/2" "00450518" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "family, affected mother/son" "" "" "" "" "0" "" "" "" "F087.1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 272 "{{individualid}}" "{{diseaseid}}" "00039355" "02921" "00063255" "00325" "00063256" "00325" "00090126" "02921" "00094022" "02921" "00094023" "02921" "00094027" "02921" "00094028" "02921" "00094029" "02921" "00094030" "02921" "00094031" "02921" "00094032" "02921" "00094033" "02921" "00094034" "02921" "00094035" "02921" "00094036" "02921" "00094037" "02921" "00094038" "02921" "00094039" "02921" "00094040" "02921" "00094041" "02921" "00094042" "02921" "00094043" "02921" "00094044" "02921" "00094045" "02921" "00094046" "02921" "00094047" "02921" "00094048" "02921" "00094049" "02921" "00094050" "02921" "00094051" "02921" "00094052" "02921" "00094053" "02921" "00094054" "02921" "00094055" "02921" "00094056" "02921" "00094057" "02921" "00094058" "02921" "00094059" "02921" "00094060" "02921" "00094061" "02921" "00094062" "02921" "00094063" "02921" "00094064" "02921" "00094065" "02921" "00094066" "02921" "00094067" "02921" "00094068" "02921" "00094069" "02921" "00094070" "02921" "00094071" "02921" "00094072" "02921" "00094075" "02921" "00094076" "02921" "00094077" "02921" "00094078" "02921" "00094079" "02921" "00094080" "02921" "00094081" "02921" "00094082" "02921" "00094083" "02921" "00094084" "02921" "00094085" "02921" "00094086" "02921" "00094087" "02921" "00094088" "02921" "00094089" "02921" "00094090" "02921" "00094091" "02921" "00094092" "02921" "00094093" "02921" "00094094" "02921" "00094095" "02921" "00094096" "02921" "00094097" "02921" "00094098" "02921" "00094099" "02921" "00094100" "02921" "00094101" "02921" "00094102" "02921" "00094103" "02921" "00094104" "02921" "00094105" "02921" "00094106" "02921" "00094107" "02921" "00094108" "02921" "00094109" "02921" "00094110" "02921" "00094111" "02921" "00094112" "02921" "00094113" "02921" "00094114" "02921" "00094115" "02921" "00094117" "02921" "00094118" "02921" "00094119" "02921" "00094120" "02921" "00094121" "02921" "00094122" "02921" "00094123" "02921" "00094124" "02921" "00094125" "02921" "00094126" "02921" "00094127" "02921" "00094128" "02921" "00094129" "02921" "00094130" "02921" "00094131" "02921" "00094132" "02921" "00094133" "02921" "00094134" "02921" "00094135" "02921" "00094136" "02921" "00094137" "02921" "00094138" "02921" "00094139" "02921" "00094140" "02921" "00094141" "02921" "00094142" "02921" "00094143" "02921" "00094144" "02921" "00094145" "02921" "00094146" "02921" "00094147" "02921" "00094148" "02921" "00094149" "02921" "00094150" "02921" "00094151" "02921" "00094152" "02921" "00094153" "02921" "00094154" "02921" "00094155" "02921" "00094156" "02921" "00094157" "02921" "00094158" "02921" "00094159" "02921" "00094160" "02921" "00094161" "02921" "00094162" "02921" "00094163" "02921" "00094164" "02921" "00094165" "02921" "00094166" "02921" "00094167" "02921" "00094168" "02921" "00094169" "02921" "00094170" "02921" "00094171" "02921" "00094172" "02921" "00094173" "02921" "00094174" "02921" "00094175" "02921" "00094176" "02921" "00094177" "02921" "00094178" "02921" "00094179" "02921" "00094180" "02921" "00094181" "02921" "00094182" "02921" "00094183" "02921" "00094184" "02921" "00094185" "02921" "00094186" "02921" "00094187" "02921" "00094188" "02921" "00094189" "02921" "00094190" "02921" "00094191" "02921" "00094192" "02921" "00094193" "02921" "00094194" "02921" "00094195" "02921" "00094196" "02921" "00094197" "02921" "00094198" "02921" "00094199" "02921" "00094200" "02921" "00094201" "02921" "00094202" "02921" "00094203" "02921" "00094204" "02921" "00094205" "02921" "00094206" "02921" "00094207" "02921" "00094208" "02921" "00094209" "02921" "00094210" "02921" "00094211" "02921" "00094212" "02921" "00094213" "02921" "00094214" "02921" "00094215" "02921" "00094216" "02921" "00094217" "02921" "00094218" "02921" "00094219" "02921" "00094220" "02921" "00094221" "02921" "00094222" "02921" "00094223" "02921" "00094224" "02921" "00094225" "02921" "00094226" "02921" "00094227" "02921" "00094228" "02921" "00094229" "02921" "00094230" "02921" "00094231" "02921" "00094232" "02921" "00094233" "02921" "00094234" "02921" "00094235" "02921" "00094236" "02921" "00094237" "02921" "00094238" "02921" "00094239" "02921" "00094240" "02921" "00094241" "02921" "00094242" "02921" "00094243" "02921" "00094244" "02921" "00094245" "02921" "00094246" "02921" "00094247" "02921" "00094248" "02921" "00094249" "02921" "00094250" "02921" "00094251" "02921" "00094252" "02921" "00094253" "02921" "00094254" "02921" "00132190" "00199" "00143205" "00198" "00143810" "00198" "00148571" "02921" "00183240" "02921" "00183279" "02921" "00183280" "02921" "00183284" "02921" "00183286" "02921" "00183287" "02921" "00183289" "02921" "00183290" "02921" "00183291" "02921" "00183292" "02921" "00183294" "02921" "00183295" "02921" "00183296" "02921" "00183297" "02921" "00183298" "02921" "00183299" "02921" "00183300" "02921" "00183301" "02921" "00183302" "02921" "00183303" "02921" "00183304" "02921" "00183305" "02921" "00183306" "02921" "00183307" "02921" "00183308" "02921" "00219076" "05111" "00276026" "00198" "00292847" "00198" "00292848" "00198" "00300089" "05111" "00300141" "05111" "00305960" "00198" "00320068" "02921" "00397838" "05113" "00408688" "00325" "00450483" "00325" "00450518" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 00325, 02921, 03723, 05111, 05113 ## Count = 268 "{{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}}" "0000029693" "02921" "00039355" "01330" "Familial, autosomal dominant" "" "pure HSP, pes cavus (HP:0001761), no urinary symptoms, no LL sensory disturbance, no europathy, no cognitive\r\nimpairment, no thinning corpus callosum, no white matter lesions, no cerebellar signs" "22y" "" "" "" "" "" "" "" "" "" "" "0000049859" "00325" "00063255" "00006" "Familial, autosomal dominant" "" "lower limb weakness (HP:0007340), spastic gait (HP:0002064), no scoliosis (-HP:0002650), positive Babinski sign (HP:0003487), normal cranial/spinal MRI" "06y" "" "" "" "" "" "" "" "" "" "" "0000049860" "00325" "00063256" "00006" "Familial, autosomal dominant" "" "lower limb weakness (HP:0007340), spastic gait (HP:0002064), ankle clonus (HP:0011448), no scoliosis (-HP:0002650), mild distal sensory neuropathy (HP:0000763), positive Babinski sign (HP:0003487), normal spinal MRI" "40y" "" "" "" "" "" "" "" "" "" "" "0000069500" "02921" "00090126" "01500" "Familial, autosomal dominant" "" "" "15y?" "" "" "" "" "" "" "" "" "" "" "0000072414" "02921" "00094022" "01500" "Familial, autosomal dominant" "?" "lower limb weakness (HP:0007340), spastic gait (HP:0002064), mild distal atrophy (HP:0003693), mild scoliosis (HP:0002650), positive Babinski sign (HP:0003487), normal cranial MRI" "18y" "" "" "" "" "" "" "" "" "" "" "0000072415" "02921" "00094023" "01500" "Familial, autosomal dominant" "?" "mild scoliosis" "18y" "" "" "" "" "" "" "" "" "" "" "0000072419" "02921" "00094027" "01500" "Familial, autosomal dominant" "?" "lower limb weakness (HP:0007340), spastic gait (HP:0002064), ankle clonus (HP:0011448), mild scoliosis (HP:0002650), positive Babinski sign (HP:0003487), normal spinal MRI; age at onset 5-18y" "?" "" "" "" "" "" "" "" "" "" "" "0000072420" "02921" "00094028" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072421" "02921" "00094029" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072422" "02921" "00094030" "01500" "Familial, autosomal dominant" "?" "age onset 5-18y; mild scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000072423" "02921" "00094031" "01500" "Familial, autosomal dominant" "?" "mild scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000072424" "02921" "00094032" "01500" "Familial, autosomal dominant" "?" "mild scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000072425" "02921" "00094033" "01500" "Familial, autosomal dominant" "?" "mild scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000072426" "02921" "00094034" "01500" "Familial, autosomal dominant" "?" "mild scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000072427" "02921" "00094035" "01500" "Familial, autosomal dominant" "?" "lower limb weakness (HP:0007340), spastic gait (HP:0002064), no scoliosis (-HP:0002650), positive Babinski sign (HP:0003487), normal spinal MRI, learning difficulties (2 affecteds); age at onset 3-62y" "" "" "" "" "" "" "" "" "" "" "" "0000072428" "02921" "00094036" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072429" "02921" "00094037" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072430" "02921" "00094038" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072431" "02921" "00094039" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072432" "02921" "00094040" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072433" "02921" "00094041" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072434" "02921" "00094042" "01500" "Familial, autosomal dominant" "?" "age onset 3-62y; maybe learning difficulties" "" "" "" "" "" "" "" "" "" "" "" "0000072435" "02921" "00094043" "01500" "Familial, autosomal dominant" "?" "lower limb weakness (HP:0007340), spastic gait (HP:0002064), ankle clonus (HP:0011448), no scoliosis (-HP:0002650), positive Babinski sign (HP:0003487), normal spinal MRI; age at onset 3-60y" "?" "" "" "" "" "" "" "" "" "" "" "0000072436" "02921" "00094044" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072437" "02921" "00094045" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072438" "02921" "00094046" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072439" "02921" "00094047" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072440" "02921" "00094048" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072441" "02921" "00094049" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072442" "02921" "00094050" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072443" "02921" "00094051" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072444" "02921" "00094052" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072445" "02921" "00094053" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072446" "02921" "00094054" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072447" "02921" "00094055" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072448" "02921" "00094056" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072449" "02921" "00094057" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072450" "02921" "00094058" "01500" "Familial, autosomal dominant" "?" "age onset 3-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072451" "02921" "00094059" "01500" "Familial, autosomal dominant" "76y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072452" "02921" "00094060" "01500" "Familial, autosomal dominant" "?" "unknown" "<76y" "" "" "" "" "" "" "" "" "" "" "0000072453" "02921" "00094061" "01500" "Familial, autosomal dominant" "<51y" "right cerebellar venous angioma" "32y" "" "" "" "" "" "" "" "" "" "" "0000072454" "02921" "00094062" "01500" "Familial, autosomal dominant" "<23y" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072455" "02921" "00094063" "01500" "Familial, autosomal dominant" "<60y" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072456" "02921" "00094064" "01500" "Familial, autosomal dominant" "<60y" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072457" "02921" "00094065" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072458" "02921" "00094066" "01500" "Familial, autosomal dominant" "<60y" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072459" "02921" "00094067" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072460" "02921" "00094068" "01500" "Familial, autosomal dominant" "5y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072461" "02921" "00094069" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072462" "02921" "00094070" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072463" "02921" "00094071" "01500" "Familial, autosomal dominant" "24y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072464" "02921" "00094072" "01500" "Familial, autosomal dominant" "24y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072467" "02921" "00094075" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072468" "02921" "00094076" "01500" "Familial, autosomal dominant" ">50y" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072469" "02921" "00094077" "01500" "Familial, autosomal dominant" "?" "unknown" "<45y" "" "" "" "" "" "" "" "" "" "" "0000072470" "02921" "00094078" "01500" "Familial, autosomal dominant" "?" "unknown" "<45y" "" "" "" "" "" "" "" "" "" "" "0000072471" "02921" "00094079" "01500" "Isolated (sporadic)" "54y" "white matter lesion above trigonum, central motor conduction time increased latency" "42y" "" "" "" "" "" "" "" "" "" "" "0000072472" "02921" "00094080" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072473" "02921" "00094081" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072474" "02921" "00094082" "01500" "Familial, autosomal dominant" "?" "none" "38y" "" "" "" "" "" "" "" "" "" "" "0000072475" "02921" "00094083" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072476" "02921" "00094084" "01500" "Familial, autosomal dominant" "?" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000072477" "02921" "00094085" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072478" "02921" "00094086" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072479" "02921" "00094087" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072480" "02921" "00094088" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072481" "02921" "00094089" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072482" "02921" "00094090" "01500" "Familial, autosomal dominant" "<46y" "none" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072483" "02921" "00094091" "01500" "Familial, autosomal dominant" "<46y" "none" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072484" "02921" "00094092" "01500" "Familial, autosomal dominant" "<34y" "none" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072485" "02921" "00094093" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072486" "02921" "00094094" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072487" "02921" "00094095" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072488" "02921" "00094096" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072489" "02921" "00094097" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072490" "02921" "00094098" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072491" "02921" "00094099" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072492" "02921" "00094100" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072493" "02921" "00094101" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072494" "02921" "00094102" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072495" "02921" "00094103" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072496" "02921" "00094104" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072497" "02921" "00094105" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072498" "02921" "00094106" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072499" "02921" "00094107" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072500" "02921" "00094108" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072501" "02921" "00094109" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072502" "02921" "00094110" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072503" "02921" "00094111" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072504" "02921" "00094112" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072505" "02921" "00094113" "01500" "Familial, autosomal dominant" "" "age analysis 2-76y, age onset 1-75y; some muscle weakness of hands" "" "" "" "" "" "" "" "" "" "" "" "0000072506" "02921" "00094114" "01500" "Familial, autosomal dominant" "35y" "distal amyotrophy of upper limbs, scoliosis, small unspecific white matter lesions in frontal lobe, distal sensory and motor neuropathy" "5y" "" "" "" "" "" "" "" "" "" "" "0000072507" "02921" "00094115" "01500" "Familial, autosomal dominant" "7y" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072509" "02921" "00094117" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072510" "02921" "00094118" "01500" "Familial, autosomal dominant" "59y" "none" "50y" "" "" "" "" "" "" "" "" "" "" "0000072511" "02921" "00094119" "01500" "Familial, autosomal dominant" "56y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072512" "02921" "00094120" "01500" "Familial, autosomal dominant" "95y" "early upper limb involvement" "90y" "" "" "" "" "" "" "" "" "" "" "0000072513" "02921" "00094121" "01500" "Familial, autosomal dominant" "47y" "early upper limb involvement" "42y" "" "" "" "" "" "" "" "" "" "" "0000072514" "02921" "00094122" "01500" "Familial, autosomal dominant" "53y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072515" "02921" "00094123" "01500" "Familial, autosomal dominant" "29y" "scoliosis" "4y" "" "" "" "" "" "" "" "" "" "" "0000072516" "02921" "00094124" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072517" "02921" "00094125" "01500" "Familial, autosomal dominant" "19y" "decreased vibration sense, distal hypoesthesia, pain, dysphagia" "3y" "" "" "" "" "" "" "" "" "" "" "0000072518" "02921" "00094126" "01500" "Familial, autosomal dominant" "49y" "none" "16y" "" "" "" "" "" "" "" "" "" "" "0000072519" "02921" "00094127" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072520" "02921" "00094128" "01500" "Familial, autosomal dominant" "?" "unknown" "<49y" "" "" "" "" "" "" "" "" "" "" "0000072521" "02921" "00094129" "01500" "Familial, autosomal dominant" "?" "unknown" "<49y" "" "" "" "" "" "" "" "" "" "" "0000072522" "02921" "00094130" "01500" "Familial, autosomal dominant" "68y" "urinary symptoms, hand tremor, strabismus" "30y" "" "" "" "" "" "" "" "" "" "" "0000072523" "02921" "00094131" "01500" "Familial, autosomal dominant" "45y" "decreased vibration sense, hand tremor" "30y" "" "" "" "" "" "" "" "" "" "" "0000072524" "02921" "00094132" "01500" "Familial, autosomal dominant" "?" "unknown" "<45y" "" "" "" "" "" "" "" "" "" "" "0000072525" "02921" "00094133" "01500" "Familial, autosomal dominant" "?" "unknown" "<45y" "" "" "" "" "" "" "" "" "" "" "0000072526" "02921" "00094134" "01500" "Familial, autosomal dominant" "30y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072527" "02921" "00094135" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072528" "02921" "00094136" "01500" "Familial, autosomal dominant" "45y" "none" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072529" "02921" "00094137" "01500" "Familial, autosomal dominant" "47y" "decreased vibration sense, urinary symptoms" "5y" "" "" "" "" "" "" "" "" "" "" "0000072530" "02921" "00094138" "01500" "Familial, autosomal dominant" "20y" "decreased vibration sense, mild cerebellar syndrome" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072531" "02921" "00094139" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072532" "02921" "00094140" "01500" "Familial, autosomal dominant" "48y" "pes cavus" "25y" "" "" "" "" "" "" "" "" "" "" "0000072533" "02921" "00094141" "01500" "Familial, autosomal dominant" "?" "unknown" "<48y" "" "" "" "" "" "" "" "" "" "" "0000072534" "02921" "00094142" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072535" "02921" "00094143" "01500" "Familial, autosomal dominant" "45y" "decreased vibration sense, urinary symptoms, pes cavus, distal sensory and motor neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072536" "02921" "00094144" "01500" "Familial, autosomal dominant" "49y" "decreased vibration sense, urinary symptoms" "18y" "" "" "" "" "" "" "" "" "" "" "0000072537" "02921" "00094145" "01500" "Familial, autosomal dominant" "34y" "decreased vibration sense, urinary symptoms, pes cavus, distal sensory and motor neuropathy" "15y" "" "" "" "" "" "" "" "" "" "" "0000072538" "02921" "00094146" "01500" "Familial, autosomal dominant" "?" "unknown" "<34y" "" "" "" "" "" "" "" "" "" "" "0000072539" "02921" "00094147" "01500" "Familial, autosomal dominant" "?" "unknown" "<20y" "" "" "" "" "" "" "" "" "" "" "0000072540" "02921" "00094148" "01500" "Familial, autosomal dominant" "56y" "decreased vibration sense, urinary symptoms" "5y" "" "" "" "" "" "" "" "" "" "" "0000072541" "02921" "00094149" "01500" "Familial, autosomal dominant" "32y" "urinary symptoms" "3y" "" "" "" "" "" "" "" "" "" "" "0000072542" "02921" "00094150" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072543" "02921" "00094151" "01500" "Familial, autosomal dominant" "54y" "decreased vibration sense, urinary symptoms" "35y" "" "" "" "" "" "" "" "" "" "" "0000072544" "02921" "00094152" "01500" "Familial, autosomal dominant" "?" "unknown" "<54y" "" "" "" "" "" "" "" "" "" "" "0000072545" "02921" "00094153" "01500" "Familial, autosomal dominant" "?" "unknown" "<54y" "" "" "" "" "" "" "" "" "" "" "0000072546" "02921" "00094154" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072547" "02921" "00094155" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072548" "02921" "00094156" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072549" "02921" "00094157" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072550" "02921" "00094158" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072551" "02921" "00094159" "01500" "Familial, autosomal dominant" "74y" "decreased vibration sense, pes cavus, right ptosis" "2y" "" "" "" "" "" "" "" "" "" "" "0000072552" "02921" "00094160" "01500" "Familial, autosomal dominant" "80y" "decreased vibration sense, distal hypoesthesia, urinary symptoms, mild cerebellar syndrome, small deep infarcts (MRI), distal sensory and motor neuropathy" "35y" "" "" "" "" "" "" "" "" "" "" "0000072553" "02921" "00094161" "01500" "Familial, autosomal dominant" "56y" "distal sensory neuropathy" "50y" "" "" "" "" "" "" "" "" "" "" "0000072554" "02921" "00094162" "01500" "Familial, autosomal dominant" "28y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072555" "02921" "00094163" "01500" "Familial, autosomal dominant" "81y" "decreased vibration sense, distal hypoesthesia, pes cavus, urinary symptoms, dementia, dysphagia" "78y" "" "" "" "" "" "" "" "" "" "" "0000072556" "02921" "00094164" "01500" "Familial, autosomal dominant" "43y" "pes cavus, scoliosis" "?" "" "" "" "" "" "" "" "" "" "" "0000072557" "02921" "00094165" "01500" "Familial, autosomal dominant" "40y" "decreased vibration sense, scoliosis" "6y" "" "" "" "" "" "" "" "" "" "" "0000072558" "02921" "00094166" "01500" "Familial, autosomal dominant" "39y" "decreased vibration sense, scoliosis, distal motor neuropathy" "1y" "" "" "" "" "" "" "" "" "" "" "0000072559" "02921" "00094167" "01500" "Familial, autosomal dominant" "68y" "upper limb involvement" "4y" "" "" "" "" "" "" "" "" "" "" "0000072560" "02921" "00094168" "01500" "Familial, autosomal dominant" "42y" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000072561" "02921" "00094169" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072562" "02921" "00094170" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072563" "02921" "00094171" "01500" "Familial, autosomal dominant" "71y" "pes cavus" "40y" "" "" "" "" "" "" "" "" "" "" "0000072564" "02921" "00094172" "01500" "Familial, autosomal dominant" "?" "unknown" "<71y" "" "" "" "" "" "" "" "" "" "" "0000072565" "02921" "00094173" "01500" "Familial, autosomal dominant" "?" "unknown" "<71y" "" "" "" "" "" "" "" "" "" "" "0000072566" "02921" "00094174" "01500" "Familial, autosomal dominant" "?" "unknown" "<71y" "" "" "" "" "" "" "" "" "" "" "0000072567" "02921" "00094175" "01500" "Familial, autosomal dominant" "62y" "bladder dysfunction" "32y" "" "" "" "" "" "" "" "" "" "" "0000072568" "02921" "00094176" "01500" "Familial, autosomal dominant" "42y" "impaired vibration sense, restless legs syndrome" "40y" "" "" "" "" "" "" "" "" "" "" "0000072569" "02921" "00094177" "01500" "Familial, autosomal dominant" "?" "unknown" "<42y" "" "" "" "" "" "" "" "" "" "" "0000072570" "02921" "00094178" "01500" "Familial, autosomal dominant" "6y" "pes cavus" "4y" "" "" "" "" "" "" "" "" "" "" "0000072571" "02921" "00094179" "01500" "Isolated (sporadic)" "54y" "none" "36y" "" "" "" "" "" "" "" "" "" "" "0000072572" "02921" "00094180" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072573" "02921" "00094181" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072574" "02921" "00094182" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072575" "02921" "00094183" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072576" "02921" "00094184" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072577" "02921" "00094185" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072578" "02921" "00094186" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072579" "02921" "00094187" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072580" "02921" "00094188" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072581" "02921" "00094189" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072582" "02921" "00094190" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072583" "02921" "00094191" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072584" "02921" "00094192" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072585" "02921" "00094193" "01500" "Familial, autosomal dominant" "?" "age onset 5-50y; unknown" "" "" "" "" "" "" "" "" "" "" "" "0000072586" "02921" "00094194" "01500" "Familial, autosomal dominant" ">30y" "age onset 15-30y; pes cavus" "" "" "" "" "" "" "" "" "" "" "" "0000072587" "02921" "00094195" "01500" "Familial, autosomal dominant" ">30y" "age onset 15-30y; pes cavus" "" "" "" "" "" "" "" "" "" "" "" "0000072588" "02921" "00094196" "01500" "Familial, autosomal dominant" ">30y" "age onset 15-30y; pes cavus, reduced vibration sense, upper limb involvement, distal motor neuropathy, muscle wasting" "" "" "" "" "" "" "" "" "" "" "" "0000072589" "02921" "00094197" "01500" "Familial, autosomal dominant" "?" "reduced vibration sense, upper limb involvement, mild distal sensory neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072590" "02921" "00094198" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072591" "02921" "00094199" "01500" "Familial, autosomal dominant" "?" "reduced vibration sense, upper limb involvement, mild distal sensory neuropathy" "25y" "" "" "" "" "" "" "" "" "" "" "0000072592" "02921" "00094200" "01500" "Familial, autosomal dominant" "?" "walking difficulties" "?" "" "" "" "" "" "" "" "" "" "" "0000072593" "02921" "00094201" "01500" "Familial, autosomal dominant" "27y" "upper limb involvement, bulbar dysfunction with spastic dysarthria and dysphagia" "9y" "" "" "" "" "" "" "" "" "" "" "0000072594" "02921" "00094202" "01500" "Familial, autosomal dominant" "7y" "clumsy walking" "<7y" "" "" "" "" "" "" "" "" "" "" "0000072595" "02921" "00094203" "01500" "Familial, autosomal dominant" "69y" "mild distal motor neuropathy, muscle wasting" "<69y" "" "" "" "" "" "" "" "" "" "" "0000072596" "02921" "00094204" "01500" "Familial, autosomal dominant" "45y" "muscle wasting" "16y" "" "" "" "" "" "" "" "" "" "" "0000072597" "02921" "00094205" "01500" "Familial, autosomal dominant" "42y" "pes cavus, mild distal motor neuropathy, muscle wasting" "13y" "" "" "" "" "" "" "" "" "" "" "0000072598" "02921" "00094206" "01500" "Familial, autosomal dominant" "24y" "mild distal sensory neuropathy, muscle wasting" ">10y" "" "" "" "" "" "" "" "" "" "" "0000072599" "02921" "00094207" "01500" "Familial, autosomal recessive" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072600" "02921" "00094208" "01500" "Familial, autosomal recessive" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072601" "02921" "00094209" "01500" "Familial, autosomal recessive" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072602" "02921" "00094210" "01500" "Familial, autosomal recessive" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072603" "02921" "00094211" "01500" "Familial, autosomal recessive" "5y" "upper limb involvement, respiratory distress, paradoxical breathing" "0y" "" "" "" "" "" "" "" "" "" "" "0000072604" "02921" "00094212" "01500" "Familial, autosomal dominant" "?" "unknown" "17y" "" "" "" "" "" "" "" "" "" "" "0000072605" "02921" "00094213" "01500" "Familial, autosomal dominant" "?" "unknown" "17y" "" "" "" "" "" "" "" "" "" "" "0000072606" "02921" "00094214" "01500" "Familial, autosomal dominant" "?" "unknown" "17y" "" "" "" "" "" "" "" "" "" "" "0000072607" "02921" "00094215" "01500" "Familial, autosomal dominant" "?" "unknown" "13y" "" "" "" "" "" "" "" "" "" "" "0000072608" "02921" "00094216" "01500" "Familial, autosomal dominant" "?" "unknown" "13y" "" "" "" "" "" "" "" "" "" "" "0000072609" "02921" "00094217" "01500" "Familial, autosomal dominant" "?" "unknown" "13y" "" "" "" "" "" "" "" "" "" "" "0000072610" "02921" "00094218" "01500" "Familial, autosomal dominant" "?" "unknown" "13y" "" "" "" "" "" "" "" "" "" "" "0000072611" "02921" "00094219" "01500" "Familial, autosomal dominant" "?" "unknown" "13y" "" "" "" "" "" "" "" "" "" "" "0000072612" "02921" "00094220" "01500" "Familial, autosomal dominant" "?" "unknown" "33y" "" "" "" "" "" "" "" "" "" "" "0000072613" "02921" "00094221" "01500" "Familial, autosomal dominant" "?" "unknown" "45y" "" "" "" "" "" "" "" "" "" "" "0000072614" "02921" "00094222" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072615" "02921" "00094223" "01500" "Familial, autosomal dominant" "?" "unknown" "5y" "" "" "" "" "" "" "" "" "" "" "0000072616" "02921" "00094224" "01500" "Familial, autosomal dominant" "?" "unknown" "30y" "" "" "" "" "" "" "" "" "" "" "0000072617" "02921" "00094225" "01500" "Familial, autosomal dominant" "?" "unknown" "30y" "" "" "" "" "" "" "" "" "" "" "0000072618" "02921" "00094226" "01500" "Familial, autosomal dominant" "?" "unknown" "30y" "" "" "" "" "" "" "" "" "" "" "0000072619" "02921" "00094227" "01500" "Familial, autosomal dominant" "?" "unknown" "30y" "" "" "" "" "" "" "" "" "" "" "0000072620" "02921" "00094228" "01500" "Familial, autosomal dominant" "?" "unknown" "30y" "" "" "" "" "" "" "" "" "" "" "0000072621" "02921" "00094229" "01500" "Familial, autosomal dominant" "?" "unknown" "30y" "" "" "" "" "" "" "" "" "" "" "0000072622" "02921" "00094230" "01500" "Isolated (sporadic)" "?" "unknown" "<16y" "" "" "" "" "" "" "" "" "" "" "0000072623" "02921" "00094231" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072624" "02921" "00094232" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072625" "02921" "00094233" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072626" "02921" "00094234" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072627" "02921" "00094235" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072628" "02921" "00094236" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072629" "02921" "00094237" "01500" "Familial, autosomal dominant" "73y" "none" "20y" "" "" "" "" "" "" "" "" "" "" "0000072630" "02921" "00094238" "01500" "Familial, autosomal dominant" "49y" "pes cavus" "7y" "" "" "" "" "" "" "" "" "" "" "0000072631" "02921" "00094239" "01500" "Familial, autosomal dominant" "40y" "bladder dysfunction, upper limb involvement, pes cavus, thoracic cord atrophy" "7y" "" "" "" "" "" "" "" "" "" "" "0000072632" "02921" "00094240" "01500" "Familial, autosomal dominant" "13y" "pes cavus, thoracic cord atrophy" "4y" "" "" "" "" "" "" "" "" "" "" "0000072633" "02921" "00094241" "01500" "Isolated (sporadic)" "9y" "hypotelorism, strabismus, broad nasal bridge, blubous tip nose, everted upper lip, broad short neck, speech delay, ataxia, hyperlaxity, motor and fine-motor disabilities" "3y" "" "" "" "" "" "" "" "" "" "" "0000072634" "02921" "00094242" "01500" "Familial, autosomal dominant" "?" "burning feet" "?" "" "" "" "" "" "" "" "" "" "" "0000072635" "02921" "00094243" "01500" "Familial, autosomal dominant" "63y" "orthostatic tremor, mild distal sensory neuropathy" "59y" "" "" "" "" "" "" "" "" "" "" "0000072636" "02921" "00094244" "01500" "Familial, autosomal dominant" "35y" "mild distal sensory neuropathy" "<35y" "" "" "" "" "" "" "" "" "" "" "0000072637" "02921" "00094245" "01500" "Familial, autosomal dominant" "?" "unknown" ">35y" "" "" "" "" "" "" "" "" "" "" "0000072638" "02921" "00094246" "01500" "Familial, autosomal dominant" "?" "none" ">35y" "" "" "" "" "" "" "" "" "" "" "0000072639" "02921" "00094247" "01500" "Familial, autosomal dominant" "?" "none" ">35y" "" "" "" "" "" "" "" "" "" "" "0000072640" "02921" "00094248" "01500" "Familial, autosomal dominant" "4y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072641" "02921" "00094249" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072642" "02921" "00094250" "01500" "Familial, autosomal dominant" "?" "none" "8y" "" "" "" "" "" "" "" "" "" "" "0000072643" "02921" "00094251" "01500" "Familial, autosomal dominant" "?" "none" "12y" "" "" "" "" "" "" "" "" "" "" "0000072644" "02921" "00094252" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072645" "02921" "00094253" "01500" "Familial, autosomal dominant" "7y" "upper limb involvement" "4y" "" "" "" "" "" "" "" "" "" "" "0000072646" "02921" "00094254" "01500" "Familial, autosomal dominant" "?" "none" "<20y" "" "" "" "" "" "" "" "" "" "" "0000104384" "00199" "00132190" "01500" "Familial, autosomal dominant" "" "" "10y" "" "" "" "" "" "" "" "" "" "" "0000115957" "00198" "00143205" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000116587" "00198" "00143810" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000143971" "02921" "00183240" "01500" "Familial, autosomal dominant" "30y" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000144020" "02921" "00183279" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144021" "02921" "00183280" "01500" "Familial, autosomal dominant" "" "" "04y" "" "" "" "" "" "" "" "" "" "" "0000144025" "02921" "00183284" "01500" "Familial, autosomal dominant" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "0000144027" "02921" "00183286" "01500" "Familial, autosomal dominant" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "0000144029" "02921" "00183290" "01500" "Familial, autosomal dominant" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "0000144030" "02921" "00183291" "01500" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000144031" "02921" "00183292" "01500" "Familial, autosomal dominant" "" "" "10y" "" "" "" "" "" "" "" "" "" "" "0000144032" "02921" "00183294" "01500" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000144033" "02921" "00183295" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144034" "02921" "00183296" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144035" "02921" "00183297" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144036" "02921" "00183298" "01500" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000144037" "02921" "00183299" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144038" "02921" "00183299" "01500" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000144039" "02921" "00183300" "01500" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000144040" "02921" "00183301" "01500" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000144041" "02921" "00183302" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144042" "02921" "00183303" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144043" "02921" "00183304" "01500" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144045" "02921" "00183305" "01500" "Familial, autosomal dominant" "" "" "04y06m" "" "" "" "" "" "" "" "" "" "" "0000144046" "02921" "00183306" "01500" "Familial, autosomal dominant" "" "" "03y" "" "" "" "" "" "" "" "" "" "" "0000144047" "02921" "00183307" "01500" "Familial, autosomal dominant" "55y" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "" "0000144048" "02921" "00183308" "01500" "Familial, autosomal dominant" "" "" "15y" "" "" "" "" "" "" "" "" "" "" "0000167633" "05111" "00219076" "00006" "Unknown" "" "HMN5B" "" "" "" "" "" "" "" "" "HMN-5B" "hereditary distal motor neuropathy" "" "0000210582" "00198" "00276026" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000227410" "05111" "00300089" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227462" "05111" "00300141" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000231808" "00198" "00305960" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000242112" "02921" "00320068" "01164" "Unknown" "" "65 year old female patient, spastic spinal paralysis, patient and two brothers have spastic spinal paralysis, not yet genetically confirmed; HPO:Spasticity, Hypertonia, Paralysis,Abnormal central motor function" "" "" "" "" "" "" "" "" "" "" "" "0000290965" "05113" "00397838" "04212" "Familial, autosomal recessive" "" "Delayed motor development (HP:0001270); <6m-feet disformities, contractures of the distal phalanges (HP:0009697); <1y-neuromuscular defects (HP:0002068); frequent falls (HP:0002359); mild respiratory distress (HP:0002098); decreased deep tendon reflexes (HP:0001315)" "<01y" "02y" "Delayed motor development (HP:0001270)" "" "" "" "" "" "HMN5B" "Charcot-Marie-Tooth disease" "" "0000300806" "00325" "00408688" "00006" "Unknown" "" "" "33y" "" "" "" "" "" "" "" "SPG31" "spastic paraplegia" "" "0000339546" "00325" "00450483" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SPG31" "spastic paraplegia" "" "0000339573" "00325" "00450518" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SPG31" "hereditary spastic paraplegia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 272 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039593" "00039355" "1" "01330" "01330" "2015-06-13 11:47:40" "" "" "SEQ" "DNA" "" "" "0000063244" "00063255" "1" "00006" "00006" "2016-04-07 09:00:55" "" "" "SEQ" "DNA" "" "" "0000063245" "00063256" "1" "00006" "00006" "2016-04-07 09:10:33" "" "" "SEQ" "DNA" "" "" "0000090271" "00090126" "1" "01500" "01500" "2016-12-08 10:26:31" "" "" "SEQ" "DNA" "" "" "0000094423" "00094022" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094424" "00094023" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094428" "00094027" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094429" "00094028" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094430" "00094029" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094431" "00094030" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094432" "00094031" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094433" "00094032" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094434" "00094033" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094435" "00094034" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094436" "00094035" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094437" "00094036" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094438" "00094037" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094439" "00094038" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094440" "00094039" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094441" "00094040" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094442" "00094041" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094443" "00094042" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094444" "00094043" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094445" "00094044" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094446" "00094045" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094447" "00094046" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094448" "00094047" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094449" "00094048" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094450" "00094049" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094451" "00094050" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094452" "00094051" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094453" "00094052" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094454" "00094053" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094455" "00094054" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094456" "00094055" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094457" "00094056" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094458" "00094057" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094459" "00094058" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094460" "00094059" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094461" "00094060" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094462" "00094061" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094463" "00094062" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094464" "00094063" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094465" "00094064" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094466" "00094065" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094467" "00094066" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094468" "00094067" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094469" "00094068" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094470" "00094069" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094471" "00094070" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094472" "00094071" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094473" "00094072" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094476" "00094075" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094477" "00094076" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094478" "00094077" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094479" "00094078" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094480" "00094079" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094481" "00094080" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094482" "00094081" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094483" "00094082" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094484" "00094083" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094485" "00094084" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094486" "00094085" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094487" "00094086" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094488" "00094087" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094489" "00094088" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094490" "00094089" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094491" "00094090" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094492" "00094091" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094493" "00094092" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094494" "00094093" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094495" "00094094" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094496" "00094095" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094497" "00094096" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094498" "00094097" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094499" "00094098" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094500" "00094099" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094501" "00094100" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094502" "00094101" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094503" "00094102" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094504" "00094103" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094505" "00094104" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094506" "00094105" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094507" "00094106" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094508" "00094107" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094509" "00094108" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094510" "00094109" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094511" "00094110" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094512" "00094111" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094513" "00094112" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094514" "00094113" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094515" "00094114" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094516" "00094115" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094518" "00094117" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094519" "00094118" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094520" "00094119" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094521" "00094120" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094522" "00094121" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094523" "00094122" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094524" "00094123" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094525" "00094124" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094526" "00094125" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094527" "00094126" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094528" "00094127" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094529" "00094128" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094530" "00094129" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094531" "00094130" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094532" "00094131" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094533" "00094132" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094534" "00094133" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094535" "00094134" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094536" "00094135" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094537" "00094136" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094538" "00094137" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094539" "00094138" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094540" "00094139" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094541" "00094140" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094542" "00094141" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094543" "00094142" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094544" "00094143" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094545" "00094144" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094546" "00094145" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094547" "00094146" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094548" "00094147" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094549" "00094148" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094550" "00094149" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094551" "00094150" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094552" "00094151" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094553" "00094152" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094554" "00094153" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094555" "00094154" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094556" "00094155" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094557" "00094156" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094558" "00094157" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094559" "00094158" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094560" "00094159" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094561" "00094160" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094562" "00094161" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094563" "00094162" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094564" "00094163" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094565" "00094164" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094566" "00094165" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094567" "00094166" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094568" "00094167" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094569" "00094168" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094570" "00094169" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094571" "00094170" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094572" "00094171" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094573" "00094172" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094574" "00094173" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094575" "00094174" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094576" "00094175" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094577" "00094176" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094578" "00094177" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094579" "00094178" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094580" "00094179" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094581" "00094180" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094582" "00094181" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094583" "00094182" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094584" "00094183" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094585" "00094184" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094586" "00094185" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094587" "00094186" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094588" "00094187" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094589" "00094188" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094590" "00094189" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094591" "00094190" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094592" "00094191" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094593" "00094192" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094594" "00094193" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094595" "00094194" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094596" "00094195" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094597" "00094196" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094598" "00094197" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094599" "00094198" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094600" "00094199" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094601" "00094200" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094602" "00094201" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094603" "00094202" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094604" "00094203" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094605" "00094204" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094606" "00094205" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094607" "00094206" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094608" "00094207" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094609" "00094208" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094610" "00094209" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094611" "00094210" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094612" "00094211" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094613" "00094212" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094614" "00094213" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094615" "00094214" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094616" "00094215" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094617" "00094216" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094618" "00094217" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094619" "00094218" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094620" "00094219" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094621" "00094220" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094622" "00094221" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094623" "00094222" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094624" "00094223" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094625" "00094224" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094626" "00094225" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094627" "00094226" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094628" "00094227" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094629" "00094228" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094630" "00094229" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094631" "00094230" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094632" "00094231" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094633" "00094232" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094634" "00094233" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094635" "00094234" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094636" "00094235" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094637" "00094236" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094638" "00094237" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094639" "00094238" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094640" "00094239" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094641" "00094240" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC;SEQ" "DNA" "leukocytes" "" "0000094642" "00094241" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "arraySNP" "DNA" "leukocytes" "" "0000094643" "00094242" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094644" "00094243" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094645" "00094244" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094646" "00094245" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094647" "00094246" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094648" "00094247" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094649" "00094248" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094650" "00094249" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094651" "00094250" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094652" "00094251" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094653" "00094252" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094654" "00094253" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA;SEQ" "DNA" "leukocytes" "" "0000094655" "00094254" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000133027" "00132190" "1" "01500" "01500" "2017-10-24 10:00:49" "" "" "SEQ-NG-I" "DNA" "leukocytes" "184 gene neuromuscular disorder panel" "0000144062" "00143205" "0" "01807" "01807" "2017-11-30 19:09:18" "" "" "SEQ" "DNA" "" "" "0000144669" "00143810" "0" "01807" "01807" "2017-12-07 14:19:15" "" "" "SEQ" "DNA" "" "" "0000149427" "00148571" "1" "01741" "01741" "2018-01-08 14:30:57" "" "" "SEQ" "DNA" "" "" "0000184197" "00183240" "1" "01500" "01500" "2018-10-17 14:50:47" "" "" "SEQ" "DNA" "" "" "0000184238" "00183279" "1" "01500" "01500" "2018-10-22 14:43:23" "" "" "SEQ" "DNA" "" "" "0000184240" "00183280" "1" "01500" "01500" "2018-10-22 14:49:32" "" "" "SEQ" "DNA" "" "" "0000184245" "00183284" "1" "01500" "01500" "2018-10-22 15:49:53" "" "" "SEQ" "DNA" "" "" "0000184247" "00183286" "1" "01500" "01500" "2018-10-22 15:52:29" "" "" "SEQ" "DNA" "" "" "0000184248" "00183287" "1" "01500" "01500" "2018-10-22 15:55:25" "" "" "SEQ" "DNA" "" "" "0000184249" "00183289" "1" "01500" "01500" "2018-10-22 15:58:39" "" "" "SEQ" "DNA" "" "" "0000184251" "00183290" "1" "01500" "01500" "2018-10-22 16:01:05" "" "" "SEQ" "DNA" "" "" "0000184252" "00183291" "1" "01500" "01500" "2018-10-22 16:03:15" "" "" "SEQ" "DNA" "" "" "0000184253" "00183292" "1" "01500" "01500" "2018-10-22 16:05:19" "" "" "SEQ" "DNA" "" "" "0000184254" "00183294" "1" "01500" "01500" "2018-10-22 16:08:19" "" "" "SEQ" "DNA" "" "" "0000184255" "00183295" "1" "01500" "01500" "2018-10-22 16:10:07" "" "" "SEQ" "DNA" "" "" "0000184256" "00183296" "1" "01500" "01500" "2018-10-22 16:11:53" "" "" "SEQ" "DNA" "" "" "0000184257" "00183297" "1" "01500" "01500" "2018-10-22 16:13:12" "" "" "SEQ" "DNA" "" "" "0000184258" "00183298" "1" "01500" "01500" "2018-10-22 16:14:43" "" "" "SEQ" "DNA" "" "" "0000184259" "00183299" "1" "01500" "01500" "2018-10-22 16:16:11" "" "" "SEQ" "DNA" "" "" "0000184260" "00183300" "1" "01500" "01500" "2018-10-22 16:18:15" "" "" "SEQ" "DNA" "" "" "0000184261" "00183301" "1" "01500" "01500" "2018-10-22 16:19:56" "" "" "SEQ" "DNA" "" "" "0000184262" "00183302" "1" "01500" "01500" "2018-10-22 16:21:40" "" "" "SEQ" "DNA" "" "" "0000184263" "00183303" "1" "01500" "01500" "2018-10-22 16:22:55" "" "" "SEQ" "DNA" "" "" "0000184264" "00183304" "1" "01500" "01500" "2018-10-22 16:24:08" "" "" "SEQ" "DNA" "" "" "0000184266" "00183305" "1" "01500" "01500" "2018-10-22 16:29:42" "" "" "SEQ" "DNA" "" "" "0000184267" "00183306" "1" "01500" "01500" "2018-10-22 16:31:46" "" "" "SEQ" "DNA" "" "" "0000184268" "00183307" "1" "01500" "01500" "2018-10-22 16:33:24" "" "" "SEQ" "DNA" "" "" "0000184269" "00183308" "1" "01500" "01500" "2018-10-22 16:35:09" "" "" "SEQ" "DNA" "" "" "0000220148" "00219076" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000277173" "00276026" "1" "01807" "01807" "2020-01-24 11:02:15" "" "" "SEQ" "DNA" "" "" "0000294015" "00292847" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294016" "00292848" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301205" "00300089" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301257" "00300141" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000307090" "00305960" "1" "01807" "01807" "2020-07-06 11:48:01" "" "" "SEQ" "DNA" "" "" "0000321252" "00320068" "1" "01164" "01164" "2020-11-20 11:50:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000399080" "00397838" "1" "04212" "04212" "2021-12-29 10:32:41" "" "" "SEQ" "DNA" "" "" "0000409950" "00408688" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "" "0000452081" "00450483" "1" "00006" "00006" "2024-05-28 19:08:50" "" "" "SEQ-PB" "DNA" "" "" "0000452116" "00450518" "1" "00006" "00006" "2024-05-29 10:50:03" "" "" "SEQ-PB" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 264 "{{screeningid}}" "{{geneid}}" "0000039593" "REEP1" "0000063244" "REEP1" "0000063245" "REEP1" "0000090271" "REEP1" "0000094423" "REEP1" "0000094424" "REEP1" "0000094428" "REEP1" "0000094429" "REEP1" "0000094430" "REEP1" "0000094431" "REEP1" "0000094432" "REEP1" "0000094433" "REEP1" "0000094434" "REEP1" "0000094435" "REEP1" "0000094436" "REEP1" "0000094437" "REEP1" "0000094438" "REEP1" "0000094439" "REEP1" "0000094440" "REEP1" "0000094441" "REEP1" "0000094442" "REEP1" "0000094443" "REEP1" "0000094444" "REEP1" "0000094445" "REEP1" "0000094446" "REEP1" "0000094447" "REEP1" "0000094448" "REEP1" "0000094449" "REEP1" "0000094450" "REEP1" "0000094451" "REEP1" "0000094452" "REEP1" "0000094453" "REEP1" "0000094454" "REEP1" "0000094455" "REEP1" "0000094456" "REEP1" "0000094457" "REEP1" "0000094458" "REEP1" "0000094459" "REEP1" "0000094460" "REEP1" "0000094461" "REEP1" "0000094462" "REEP1" "0000094463" "REEP1" "0000094464" "REEP1" "0000094465" "REEP1" "0000094466" "REEP1" "0000094467" "REEP1" "0000094468" "REEP1" "0000094469" "REEP1" "0000094470" "REEP1" "0000094471" "REEP1" "0000094472" "REEP1" "0000094473" "REEP1" "0000094476" "REEP1" "0000094477" "REEP1" "0000094478" "REEP1" "0000094479" "REEP1" "0000094480" "REEP1" "0000094481" "REEP1" "0000094482" "REEP1" "0000094483" "REEP1" "0000094484" "REEP1" "0000094485" "REEP1" "0000094486" "REEP1" "0000094487" "REEP1" "0000094488" "REEP1" "0000094489" "REEP1" "0000094490" "REEP1" "0000094491" "REEP1" "0000094492" "REEP1" "0000094493" "REEP1" "0000094494" "REEP1" "0000094495" "REEP1" "0000094496" "REEP1" "0000094497" "REEP1" "0000094498" "REEP1" "0000094499" "REEP1" "0000094500" "REEP1" "0000094501" "REEP1" "0000094502" "REEP1" "0000094503" "REEP1" "0000094504" "REEP1" "0000094505" "REEP1" "0000094506" "REEP1" "0000094507" "REEP1" "0000094508" "REEP1" "0000094509" "REEP1" "0000094510" "REEP1" "0000094511" "REEP1" "0000094512" "REEP1" "0000094513" "REEP1" "0000094514" "REEP1" "0000094515" "REEP1" "0000094516" "REEP1" "0000094518" "REEP1" "0000094519" "REEP1" "0000094520" "REEP1" "0000094521" "REEP1" "0000094522" "REEP1" "0000094523" "REEP1" "0000094524" "REEP1" "0000094525" "REEP1" "0000094526" "REEP1" "0000094527" "REEP1" "0000094528" "REEP1" "0000094529" "REEP1" "0000094530" "REEP1" "0000094531" "REEP1" "0000094532" "REEP1" "0000094533" "REEP1" "0000094534" "REEP1" "0000094535" "REEP1" "0000094536" "REEP1" "0000094537" "REEP1" "0000094538" "REEP1" "0000094539" "REEP1" "0000094540" "REEP1" "0000094541" "REEP1" "0000094542" "REEP1" "0000094543" "REEP1" "0000094544" "REEP1" "0000094545" "REEP1" "0000094546" "REEP1" "0000094547" "REEP1" "0000094548" "REEP1" "0000094549" "REEP1" "0000094550" "REEP1" "0000094551" "REEP1" "0000094552" "REEP1" "0000094553" "REEP1" "0000094554" "REEP1" "0000094555" "REEP1" "0000094556" "REEP1" "0000094557" "REEP1" "0000094558" "REEP1" "0000094559" "REEP1" "0000094560" "REEP1" "0000094561" "REEP1" "0000094562" "REEP1" "0000094563" "REEP1" "0000094564" "REEP1" "0000094565" "REEP1" "0000094566" "REEP1" "0000094567" "REEP1" "0000094568" "REEP1" "0000094569" "REEP1" "0000094570" "REEP1" "0000094571" "REEP1" "0000094572" "REEP1" "0000094573" "REEP1" "0000094574" "REEP1" "0000094575" "REEP1" "0000094576" "REEP1" "0000094577" "REEP1" "0000094578" "REEP1" "0000094579" "REEP1" "0000094580" "REEP1" "0000094581" "REEP1" "0000094582" "REEP1" "0000094583" "REEP1" "0000094584" "REEP1" "0000094585" "REEP1" "0000094586" "REEP1" "0000094587" "REEP1" "0000094588" "REEP1" "0000094589" "REEP1" "0000094590" "REEP1" "0000094591" "REEP1" "0000094592" "REEP1" "0000094593" "REEP1" "0000094594" "REEP1" "0000094595" "REEP1" "0000094596" "REEP1" "0000094597" "REEP1" "0000094598" "REEP1" "0000094599" "REEP1" "0000094600" "REEP1" "0000094601" "REEP1" "0000094602" "REEP1" "0000094603" "REEP1" "0000094604" "REEP1" "0000094605" "REEP1" "0000094606" "REEP1" "0000094607" "REEP1" "0000094608" "REEP1" "0000094609" "REEP1" "0000094610" "REEP1" "0000094611" "REEP1" "0000094612" "REEP1" "0000094613" "REEP1" "0000094614" "REEP1" "0000094615" "REEP1" "0000094616" "REEP1" "0000094617" "REEP1" "0000094618" "REEP1" "0000094619" "REEP1" "0000094620" "REEP1" "0000094621" "REEP1" "0000094622" "REEP1" "0000094623" "REEP1" "0000094624" "REEP1" "0000094625" "REEP1" "0000094626" "REEP1" "0000094627" "REEP1" "0000094628" "REEP1" "0000094629" "REEP1" "0000094630" "REEP1" "0000094631" "REEP1" "0000094632" "REEP1" "0000094633" "REEP1" "0000094634" "REEP1" "0000094635" "REEP1" "0000094636" "REEP1" "0000094637" "REEP1" "0000094638" "REEP1" "0000094639" "REEP1" "0000094640" "REEP1" "0000094641" "REEP1" "0000094642" "REEP1" "0000094643" "REEP1" "0000094644" "REEP1" "0000094645" "REEP1" "0000094646" "REEP1" "0000094647" "REEP1" "0000094648" "REEP1" "0000094649" "REEP1" "0000094650" "REEP1" "0000094651" "REEP1" "0000094652" "REEP1" "0000094653" "REEP1" "0000094654" "REEP1" "0000094655" "REEP1" "0000149427" "REEP1" "0000184197" "REEP1" "0000184238" "REEP1" "0000184240" "REEP1" "0000184245" "REEP1" "0000184247" "REEP1" "0000184248" "REEP1" "0000184249" "REEP1" "0000184251" "REEP1" "0000184252" "REEP1" "0000184253" "REEP1" "0000184254" "REEP1" "0000184255" "REEP1" "0000184256" "REEP1" "0000184257" "REEP1" "0000184258" "REEP1" "0000184259" "REEP1" "0000184260" "REEP1" "0000184261" "REEP1" "0000184262" "REEP1" "0000184263" "REEP1" "0000184264" "REEP1" "0000184266" "REEP1" "0000184267" "REEP1" "0000184268" "REEP1" "0000184269" "REEP1" "0000220148" "REEP1" "0000301205" "REEP1" "0000301257" "DYNC1H1" "0000301257" "PMP22" "0000301257" "REEP1" "0000321252" "REEP1" "0000399080" "REEP1" ## 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 = 331 "{{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}}" "0000067194" "1" "50" "2" "86491104" "86491104" "subst" "0" "01330" "REEP1_000001" "g.86491104C>T" "" "{PMID:Lynch 2015:26374131}, {DOI:Lynch 2015:10.1038/ejhg.2015.200}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86263981C>T" "" "VUS" "" "0000094268" "1" "90" "2" "86444180" "86444180" "subst" "0.000766921" "00006" "REEP1_000006" "g.86444180C>A" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0003}" "" "c.606+43G>T (3\'UTR)" "not in 730 control chromosomes; reported to affect microRNA140 (MIRN140) binding site giving decreased protein expression" "Germline" "yes" "rs377637314" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000094269" "1" "90" "2" "86444173" "86444173" "subst" "0.00052493" "00006" "REEP1_000007" "g.86444173C>T" "" "{PMID:Züchner 2006:16826527}" "" "606+50G>A (3\'UTR)" "not in 730 control chromosomes; reported to affect microRNA140 (MIRN140) binding site giving decreased protein expression; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86217050C>T" "" "pathogenic" "" "0000094270" "0" "90" "2" "86509339" "86509339" "subst" "0" "00006" "REEP1_000005" "g.86509339G>T" "" "{PMID:Beetz 2012:22703882}, {OMIM609139:0004}" "" "" "HeLa cell cDNA co-overexpression with atlastin-1 showed lost interaction with atlastin-1" "In vitro (cloned)" "-" "" "0" "" "" "g.86282216G>T" "" "NA" "" "0000148360" "11" "99" "2" "86459913" "86459914" "dup" "0" "01500" "REEP1_000008" "g.86459913_86459914dup" "" "" "" "429_430dupCT" "" "Germline" "yes" "" "0" "" "" "g.86232790_86232791dup" "" "pathogenic" "" "0000152965" "0" "90" "2" "86459817" "86459817" "del" "0" "01500" "REEP1_000004" "g.86459817del" "" "{PMID:Züchner 2006:16826527 }" "" "526delG" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86232694del" "" "pathogenic" "" "0000152966" "21" "90" "2" "86459817" "86459817" "del" "0" "01500" "REEP1_000004" "g.86459817del" "" "{PMID:Züchner 2006:16826527 }" "" "526delG" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232694del" "" "pathogenic" "" "0000152970" "1" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "not in 730 control chromosomes; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "rs387906264" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152971" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152972" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152973" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152974" "21" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152975" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152976" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152977" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0002}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000152978" "1" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "not in 730 control chromosomes; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "rs121918262" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152979" "0" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152980" "0" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152981" "21" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152982" "21" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152983" "11" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152984" "11" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152985" "11" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0004}" "" "" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000152986" "1" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "not in 730 control chromosomes; genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "rs387906263" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152987" "0" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152988" "0" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152989" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152990" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152991" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152992" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152993" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152994" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152995" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152996" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152997" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152998" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000152999" "21" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000153000" "11" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000153001" "11" "90" "2" "86459836" "86459836" "del" "0" "01500" "REEP1_000002" "g.86459836del" "" "{PMID:Züchner 2006:16826527}, {OMIM609139:0001}" "" "507delC" "genes screened CTNNA2, SUCLG1, TGOLN2, MATA2A, VAMP8, VAMP5, IMMT, VPS24, REEP1" "Germline" "yes" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000153002" "0" "90" "2" "86564632" "86564634" "del" "0" "01500" "REEP1_000009" "g.86564632_86564634del" "" "{PMID:Beetz 2008: 18321925}" "" "-1_2delCAT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86337509_86337511del" "" "pathogenic" "" "0000153003" "0" "90" "2" "86564632" "86564634" "del" "0" "01500" "REEP1_000009" "g.86564632_86564634del" "" "{PMID:Beetz 2008: 18321925}" "" "-1_2delCAT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86337509_86337511del" "" "pathogenic" "" "0000153004" "11" "90" "2" "86564632" "86564634" "del" "0" "01500" "REEP1_000009" "g.86564632_86564634del" "" "{PMID:Beetz 2008: 18321925}" "" "-1_2delCAT" "" "Germline" "yes" "" "0" "" "" "g.86337509_86337511del" "" "pathogenic" "" "0000153005" "21" "90" "2" "86564632" "86564634" "del" "0" "01500" "REEP1_000009" "g.86564632_86564634del" "" "{PMID:Beetz 2008: 18321925}" "" "-1_2delCAT" "" "Germline" "yes" "" "0" "" "" "g.86337509_86337511del" "" "pathogenic" "" "0000153006" "0" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153007" "0" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153008" "0" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153009" "11" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153010" "21" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153011" "21" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153012" "11" "90" "2" "86509295" "86509296" "del" "0" "01500" "REEP1_000009" "g.86509295_86509296del" "" "{PMID:Beetz 2008: 18321925}" "" "104_105delAT" "" "Germline" "yes" "" "0" "" "" "g.86282172_86282173del" "" "pathogenic" "" "0000153013" "0" "90" "2" "86481937" "86481938" "ins" "0" "01500" "REEP1_000010" "g.86481937_86481938insAG" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254814_86254815insAG" "" "pathogenic" "" "0000153014" "11" "90" "2" "86481937" "86481938" "ins" "0" "01500" "REEP1_000010" "g.86481937_86481938insAG" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86254814_86254815insAG" "" "pathogenic" "" "0000153015" "11" "90" "2" "86481937" "86481938" "ins" "0" "01500" "REEP1_000010" "g.86481937_86481938insAG" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86254814_86254815insAG" "" "pathogenic" "" "0000153018" "0" "90" "2" "86481840" "86481840" "del" "0" "01500" "REEP1_000012" "g.86481840del" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254717del" "" "pathogenic" "" "0000153019" "11" "90" "2" "86481840" "86481840" "del" "0" "01500" "REEP1_000012" "g.86481840del" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86254717del" "" "pathogenic" "" "0000153020" "11" "90" "2" "86481840" "86481840" "del" "0" "01500" "REEP1_000012" "g.86481840del" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86254717del" "" "pathogenic" "" "0000153021" "11" "90" "2" "86481840" "86481840" "del" "0" "01500" "REEP1_000012" "g.86481840del" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86254717del" "" "pathogenic" "" "0000153022" "0" "90" "2" "86481817" "86481817" "subst" "0" "01500" "REEP1_000013" "g.86481817C>T" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "De novo" "yes" "" "0" "" "" "g.86254694C>T" "" "pathogenic" "" "0000153023" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153024" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153025" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153026" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153027" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153028" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153029" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153030" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153031" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153032" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153033" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153034" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153035" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153036" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153037" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153038" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153039" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153040" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153041" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153042" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153043" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153044" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153045" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153046" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153047" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153048" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153049" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153050" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153051" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153052" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153053" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153054" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153055" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153056" "0" "90" "2" "86459803" "86459806" "del" "0" "01500" "REEP1_000015" "g.86459803_86459806del" "" "{PMID:Beetz 2008: 18321925}" "" "537_540delCGGC" "" "Germline" "yes" "" "0" "" "" "g.86232680_86232683del" "" "pathogenic" "" "0000153057" "0" "90" "2" "86459748" "86459748" "subst" "0" "01500" "REEP1_000016" "g.86459748C>G" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86232625C>G" "" "pathogenic" "" "0000153058" "11" "90" "2" "86459748" "86459748" "subst" "0" "01500" "REEP1_000016" "g.86459748C>G" "" "{PMID:Beetz 2008: 18321925}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86232625C>G" "" "pathogenic" "" "0000153060" "0" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Beetz 2008: 18321925}, {OMIM609139:0003}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153061" "21" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Beetz 2008: 18321925}, {OMIM609139:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153062" "21" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Beetz 2008: 18321925}, {OMIM609139:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153063" "0" "90" "2" "86444222" "86509366" "dup" "0" "01500" "REEP1_000018" "g.(?_86444222)_(86509366_86564601)dup" "" "{PMID:Beetz 2008: 18321925}" "" "33-?_606+?dup" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153064" "11" "90" "2" "86444222" "86509366" "dup" "0" "01500" "REEP1_000018" "g.(?_86444222)_(86509366_86564601)dup" "" "{PMID:Beetz 2008: 18321925}" "" "33-?_606+?dup" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153065" "0" "90" "2" "86509351" "86509351" "del" "0" "01500" "REEP1_000019" "g.86509351del" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282228del" "" "pathogenic" "" "0000153066" "21" "90" "2" "86509351" "86509351" "del" "0" "01500" "REEP1_000019" "g.86509351del" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282228del" "" "pathogenic" "" "0000153067" "0" "90" "2" "86509342" "86509342" "subst" "0" "01500" "REEP1_000020" "g.86509342G>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282219G>A" "" "pathogenic" "" "0000153068" "11" "90" "2" "86509342" "86509342" "subst" "0" "01500" "REEP1_000020" "g.86509342G>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282219G>A" "" "pathogenic" "" "0000153069" "0" "90" "2" "86509330" "86509330" "subst" "0" "01500" "REEP1_000021" "g.86509330G>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282207G>A" "" "pathogenic" "" "0000153070" "0" "90" "2" "86509330" "86509330" "subst" "0" "01500" "REEP1_000021" "g.86509330G>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282207G>A" "" "pathogenic" "" "0000153071" "11" "90" "2" "86509330" "86509330" "subst" "0" "01500" "REEP1_000021" "g.86509330G>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282207G>A" "" "pathogenic" "" "0000153072" "21" "90" "2" "86509330" "86509330" "subst" "0" "01500" "REEP1_000021" "g.86509330G>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282207G>A" "" "pathogenic" "" "0000153073" "0" "90" "2" "86509292" "86509366" "del" "0" "01500" "REEP1_000022" "g.(86491165_86509292)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 2" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153074" "21" "90" "2" "86509292" "86509366" "del" "0" "01500" "REEP1_000022" "g.(86491165_86509292)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 2" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153075" "21" "90" "2" "86509292" "86509366" "del" "0" "01500" "REEP1_000022" "g.(86491165_86509292)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 2" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153076" "21" "90" "2" "86509292" "86509366" "del" "0" "01500" "REEP1_000022" "g.(86491165_86509292)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 2" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153077" "21" "90" "2" "86509292" "86509366" "del" "0" "01500" "REEP1_000022" "g.(86491165_86509292)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 2" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153078" "0" "90" "2" "86491168" "86491168" "subst" "0" "01500" "REEP1_000023" "g.86491168T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86264045T>C" "" "pathogenic" "" "0000153079" "21" "90" "2" "86491168" "86491168" "subst" "0" "01500" "REEP1_000023" "g.86491168T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264045T>C" "" "pathogenic" "" "0000153080" "21" "90" "2" "86491168" "86491168" "subst" "0" "01500" "REEP1_000023" "g.86491168T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264045T>C" "" "pathogenic" "" "0000153081" "21" "90" "2" "86491168" "86491168" "subst" "0" "01500" "REEP1_000023" "g.86491168T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264045T>C" "" "pathogenic" "" "0000153082" "0" "90" "2" "86491165" "86491165" "del" "0" "01500" "REEP1_000024" "g.86491165del" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86264042del" "" "pathogenic" "" "0000153083" "11" "90" "2" "86491165" "86491165" "del" "0" "01500" "REEP1_000024" "g.86491165del" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264042del" "" "pathogenic" "" "0000153084" "11" "90" "2" "86491165" "86491165" "del" "0" "01500" "REEP1_000024" "g.86491165del" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264042del" "" "pathogenic" "" "0000153085" "0" "90" "2" "86491146" "86491146" "subst" "0" "01500" "REEP1_000025" "g.86491146A>G" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86264023A>G" "" "pathogenic" "" "0000153086" "21" "90" "2" "86491146" "86491146" "subst" "0" "01500" "REEP1_000025" "g.86491146A>G" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264023A>G" "" "pathogenic" "" "0000153087" "21" "90" "2" "86491146" "86491146" "subst" "0" "01500" "REEP1_000025" "g.86491146A>G" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264023A>G" "" "pathogenic" "" "0000153088" "21" "90" "2" "86491146" "86491146" "subst" "0" "01500" "REEP1_000025" "g.86491146A>G" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264023A>G" "" "pathogenic" "" "0000153089" "21" "90" "2" "86491146" "86491146" "subst" "0" "01500" "REEP1_000025" "g.86491146A>G" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264023A>G" "" "pathogenic" "" "0000153090" "21" "90" "2" "86491146" "86491146" "subst" "0" "01500" "REEP1_000025" "g.86491146A>G" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86264023A>G" "" "pathogenic" "" "0000153091" "0" "90" "2" "86491104" "86491104" "subst" "0" "01500" "REEP1_000001" "g.86491104C>T" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86263981C>T" "" "pathogenic" "" "0000153092" "11" "90" "2" "86491104" "86491104" "subst" "0" "01500" "REEP1_000001" "g.86491104C>T" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86263981C>T" "" "pathogenic" "" "0000153093" "0" "90" "2" "86491087" "86509366" "del" "0" "01500" "REEP1_000026" "g.(86481938_86491087)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 3" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153094" "21" "90" "2" "86491087" "86509366" "del" "0" "01500" "REEP1_000026" "g.(86481938_86491087)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 3" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153095" "21" "90" "2" "86491087" "86509366" "del" "0" "01500" "REEP1_000026" "g.(86481938_86491087)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 3" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153096" "21" "90" "2" "86491087" "86509366" "del" "0" "01500" "REEP1_000026" "g.(86481938_86491087)_(86509366_86564601)del" "" "{PMID:Goizet 2011:21618648}" "" "del exon 3" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153097" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153098" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153099" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153100" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153101" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153102" "11" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153103" "0" "90" "2" "86481922" "86481922" "subst" "0" "01500" "REEP1_000027" "g.86481922A>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254799A>C" "" "pathogenic" "" "0000153104" "11" "90" "2" "86481922" "86481922" "subst" "0" "01500" "REEP1_000027" "g.86481922A>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254799A>C" "" "pathogenic" "" "0000153105" "21" "90" "2" "86481922" "86481922" "subst" "0" "01500" "REEP1_000027" "g.86481922A>C" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254799A>C" "" "pathogenic" "" "0000153106" "0" "90" "2" "86479131" "86479131" "subst" "0" "01500" "REEP1_000028" "g.86479131C>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86252008C>A" "" "pathogenic" "" "0000153107" "11" "90" "2" "86479131" "86479131" "subst" "0" "01500" "REEP1_000028" "g.86479131C>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86252008C>A" "" "pathogenic" "" "0000153108" "11" "90" "2" "86479131" "86479131" "subst" "0" "01500" "REEP1_000028" "g.86479131C>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86252008C>A" "" "pathogenic" "" "0000153109" "11" "90" "2" "86479131" "86479131" "subst" "0" "01500" "REEP1_000028" "g.86479131C>A" "" "{PMID:Goizet 2011:21618648}" "" "" "genes screened SPAST, ATL1, KIF5A, SLC33A1, BSCL2, NIPA1, REEP1" "Germline" "yes" "" "0" "" "" "g.86252008C>A" "" "pathogenic" "" "0000153110" "0" "90" "2" "86479160" "86479160" "subst" "0" "01500" "REEP1_000029" "g.86479160G>A" "" "{PMID:Fisher 2013:24221643}" "" "" "" "Germline/De novo (untested)" "yes" "rs121918263" "0" "" "" "g.86252037G>A" "" "pathogenic" "" "0000153111" "11" "90" "2" "86479160" "86479160" "subst" "0" "01500" "REEP1_000029" "g.86479160G>A" "" "{PMID:Fisher 2013:24221643}" "" "" "" "Germline" "yes" "rs121918263" "0" "" "" "g.86252037G>A" "" "pathogenic" "" "0000153112" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153113" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153114" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153115" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153116" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153117" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153118" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153119" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153120" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153121" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153122" "0" "90" "2" "86564633" "86564633" "subst" "0" "01500" "REEP1_000030" "g.86564633T>C" "" "{PMID:de Bot 2013:23108492}" "" "" "genes screened ATL1, REEP1" "De novo" "yes" "" "0" "" "" "g.86337510T>C" "" "pathogenic" "" "0000153123" "0" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153124" "0" "90" "2" "86509338" "86509338" "del" "0" "01500" "REEP1_000031" "g.86509338del" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282215del" "" "pathogenic" "" "0000153125" "11" "90" "2" "86509338" "86509338" "del" "0" "01500" "REEP1_000031" "g.86509338del" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282215del" "" "pathogenic" "" "0000153126" "0" "90" "2" "86509287" "86509287" "subst" "0" "01500" "REEP1_000032" "g.86509287A>G" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282164A>G" "" "pathogenic" "" "0000153127" "0" "90" "2" "86491106" "86491106" "subst" "0" "01500" "REEP1_000033" "g.86491106G>T" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86263983G>T" "" "pathogenic" "" "0000153128" "0" "90" "2" "86481936" "86481937" "ins" "0" "01500" "REEP1_000034" "g.86481936_86481937insAG" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254813_86254814insAG" "" "pathogenic" "" "0000153129" "0" "90" "2" "86479177" "86479177" "subst" "0" "01500" "REEP1_000035" "g.86479177A>G" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86252054A>G" "" "pathogenic" "" "0000153130" "0" "90" "2" "86479153" "86479160" "del" "0" "01500" "REEP1_000036" "g.86479153_86479160del" "" "{PMID:Schlang 2008:18644145}" "" "340_347delAGTTACGA" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86252030_86252037del" "" "pathogenic" "" "0000153131" "0" "90" "2" "86479152" "86479152" "subst" "0" "01500" "REEP1_000037" "g.86479152G>T" "" "{PMID:Schlang 2008:18644145}" "" "345C>A" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86252029G>T" "" "pathogenic" "" "0000153132" "0" "90" "2" "86459926" "86459926" "dup" "0" "01500" "REEP1_000038" "g.86459926dup" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86232803dup" "" "pathogenic" "" "0000153133" "21" "90" "2" "86459926" "86459926" "dup" "0" "01500" "REEP1_000038" "g.86459926dup" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86232803dup" "" "pathogenic" "" "0000153134" "21" "90" "2" "86459926" "86459926" "dup" "0" "01500" "REEP1_000038" "g.86459926dup" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86232803dup" "" "pathogenic" "" "0000153135" "0" "90" "2" "86459865" "86459865" "del" "0" "01500" "REEP1_000039" "g.86459865del" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86232742del" "" "pathogenic" "" "0000153136" "11" "90" "2" "86459865" "86459865" "del" "0" "01500" "REEP1_000039" "g.86459865del" "" "{PMID:Schlang 2008:18644145}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86232742del" "" "pathogenic" "" "0000153137" "0" "90" "2" "86479160" "86479160" "subst" "0" "01500" "REEP1_000029" "g.86479160G>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0005}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "rs121918263" "0" "" "" "g.86252037G>A" "" "pathogenic" "" "0000153138" "0" "90" "2" "86479160" "86479160" "subst" "0" "01500" "REEP1_000029" "g.86479160G>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0005}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "rs121918263" "0" "" "" "g.86252037G>A" "" "pathogenic" "" "0000153139" "11" "90" "2" "86479160" "86479160" "subst" "0" "01500" "REEP1_000029" "g.86479160G>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0005}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "rs121918263" "0" "" "" "g.86252037G>A" "" "pathogenic" "" "0000153140" "0" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0003}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153141" "21" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0003}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153142" "21" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0003}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153143" "0" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0003}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153144" "21" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0003}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153145" "21" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Hewamadduma 2009:19034539}, {OMIM609139:0003}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153146" "0" "90" "2" "86479195" "86479195" "subst" "0" "01500" "REEP1_000040" "g.86479195T>C" "" "{PMID:Beetz 2012:22703882}, {OMIM609139:0006}" "" "" "genes screened BSCL2, GARS, HSPB1, HSPB8, SETX, DCTN1, VAPB, REEP1" "Germline/De novo (untested)" "yes" "rs387907242" "0" "" "" "g.86252072T>C" "" "pathogenic" "" "0000153147" "0" "90" "2" "86479195" "86479195" "subst" "0" "01500" "REEP1_000040" "g.86479195T>C" "" "{PMID:Beetz 2012:22703882}, {OMIM609139:0006}" "" "" "genes screened BSCL2, GARS, HSPB1, HSPB8, SETX, DCTN1, VAPB, REEP1" "Germline" "yes" "rs387907242" "0" "" "" "g.86252072T>C" "" "pathogenic" "" "0000153148" "0" "90" "2" "86479195" "86479195" "subst" "0" "01500" "REEP1_000040" "g.86479195T>C" "" "{PMID:Beetz 2012:22703882}, {OMIM609139:0006}" "" "" "genes screened BSCL2, GARS, HSPB1, HSPB8, SETX, DCTN1, VAPB, REEP1" "Germline" "yes" "rs387907242" "0" "" "" "g.86252072T>C" "" "pathogenic" "" "0000153149" "0" "90" "2" "86479195" "86479195" "subst" "0" "01500" "REEP1_000040" "g.86479195T>C" "" "{PMID:Beetz 2012:22703882}, {OMIM609139:0006}" "" "" "genes screened BSCL2, GARS, HSPB1, HSPB8, SETX, DCTN1, VAPB, REEP1" "Germline" "yes" "rs387907242" "0" "" "" "g.86252072T>C" "" "pathogenic" "" "0000153150" "3" "90" "2" "86481810" "86481816" "delins" "0" "01500" "REEP1_000041" "g.86481810_86481816delinsGT" "" "{PMID:Schottmann 2015:27066569}" "" "303+1-7GTAATAT>AC" "genes screened PMP22, MPZ, GDAP1, EGR2, SH3TC2, IGHMBP2, TRPV4, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86254687_86254693delinsGT" "" "pathogenic" "" "0000153151" "3" "90" "2" "86481810" "86481816" "delins" "0" "01500" "REEP1_000041" "g.86481810_86481816delinsGT" "" "{PMID:Schottmann 2015:27066569}" "" "303+1-7GTAATAT>AC" "genes screened PMP22, MPZ, GDAP1, EGR2, SH3TC2, IGHMBP2, TRPV4, REEP1" "Germline" "yes" "" "0" "" "" "g.86254687_86254693delinsGT" "" "pathogenic" "" "0000153152" "3" "90" "2" "86481810" "86481816" "delins" "0" "01500" "REEP1_000041" "g.86481810_86481816delinsGT" "" "{PMID:Schottmann 2015:27066569}" "" "303+1-7GTAATAT>AC" "genes screened PMP22, MPZ, GDAP1, EGR2, SH3TC2, IGHMBP2, TRPV4, REEP1" "Germline" "yes" "" "0" "" "" "g.86254687_86254693delinsGT" "" "pathogenic" "" "0000153153" "3" "90" "2" "86481810" "86481816" "delins" "0" "01500" "REEP1_000041" "g.86481810_86481816delinsGT" "" "{PMID:Schottmann 2015:27066569}" "" "303+1-7GTAATAT>AC" "genes screened PMP22, MPZ, GDAP1, EGR2, SH3TC2, IGHMBP2, TRPV4, REEP1" "Germline" "yes" "" "0" "" "" "g.86254687_86254693delinsGT" "" "pathogenic" "" "0000153154" "3" "90" "2" "86481810" "86481816" "delins" "0" "01500" "REEP1_000041" "g.86481810_86481816delinsGT" "" "{PMID:Schottmann 2015:27066569}" "" "303+1-7GTAATAT>AC" "genes screened PMP22, MPZ, GDAP1, EGR2, SH3TC2, IGHMBP2, TRPV4, REEP1" "Germline" "yes" "" "0" "" "" "g.86254687_86254693delinsGT" "" "pathogenic" "" "0000153155" "0" "90" "2" "86509342" "86509342" "subst" "0" "01500" "REEP1_000042" "g.86509342G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282219G>C" "" "pathogenic" "" "0000153156" "0" "90" "2" "86509342" "86509342" "subst" "0" "01500" "REEP1_000042" "g.86509342G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282219G>C" "" "pathogenic" "" "0000153157" "0" "90" "2" "86509342" "86509342" "subst" "0" "01500" "REEP1_000042" "g.86509342G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86282219G>C" "" "pathogenic" "" "0000153158" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153159" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153160" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153161" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153162" "0" "90" "2" "86481939" "86481939" "subst" "0" "01500" "REEP1_000003" "g.86481939T>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000153163" "0" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153164" "0" "90" "2" "86444180" "86444180" "subst" "0.000766921" "01500" "REEP1_000006" "g.86444180C>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217057C>A" "" "pathogenic" "" "0000153165" "0" "90" "2" "86444173" "86444173" "subst" "0.00052493" "01500" "REEP1_000007" "g.86444173C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86217050C>T" "" "pathogenic" "" "0000153166" "0" "90" "2" "86481911" "86481911" "subst" "0" "01500" "REEP1_000043" "g.86481911A>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254788A>C" "" "pathogenic" "" "0000153167" "0" "90" "2" "86481918" "86481918" "subst" "0" "01500" "REEP1_000044" "g.86481918G>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254795G>A" "" "pathogenic" "" "0000153168" "0" "90" "2" "86481918" "86481918" "subst" "0" "01500" "REEP1_000044" "g.86481918G>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254795G>A" "" "pathogenic" "" "0000153169" "0" "90" "2" "86481918" "86481918" "subst" "0" "01500" "REEP1_000044" "g.86481918G>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254795G>A" "" "pathogenic" "" "0000153170" "0" "90" "2" "86481917" "86481917" "subst" "0" "01500" "REEP1_000045" "g.86481917A>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254794A>T" "" "pathogenic" "" "0000153171" "0" "90" "2" "86481917" "86481917" "subst" "0" "01500" "REEP1_000045" "g.86481917A>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254794A>T" "" "pathogenic" "" "0000153172" "0" "90" "2" "86481917" "86481917" "subst" "0" "01500" "REEP1_000045" "g.86481917A>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86254794A>T" "" "pathogenic" "" "0000153173" "0" "90" "2" "86479079" "86509366" "del" "0" "01500" "REEP1_000046" "g.(86459926_86479079)_(86509366_86564601)del" "" "{PMID:Battini 2011:20550563}" "" "del exon 2-5" "genes screened SPAST, ATL1, REEP1, SPG7" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153174" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153175" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153176" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153177" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153178" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153179" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153180" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153181" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153182" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153183" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000047" "g.86479079C>T" "" "{PMID:Liu 2009:19072839}" "" "" "genes screened SPAST, ATL1, NIPA1, KIAA0196, SPG9, KIF5A, SPG12, HSPD1, BSCL2, SPG19, REEP1, ZFYVE27" "Germline" "yes" "" "0" "" "" "g.86251956C>T" "" "pathogenic" "" "0000153184" "0" "90" "2" "86444222" "86564634" "del" "0" "01500" "REEP1_000048" "g.86444222_86564634del" "" "{PMID:Rocca 2011:22062632}" "" "del 2p11.2-p12" "genes screened REEP1, LRRTM1, CTNNA2\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153185" "0" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Erro 2014:24628902}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000153186" "11" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Erro 2014:24628902}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000153187" "21" "90" "2" "86509339" "86509339" "subst" "0" "01500" "REEP1_000005" "g.86509339G>T" "" "{PMID:Erro 2014:24628902}" "" "" "" "Germline" "yes" "" "0" "" "" "g.86282216G>T" "" "pathogenic" "" "0000153188" "0" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2010:21060088}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153189" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2010:21060088}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153190" "11" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2010:21060088}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153191" "21" "90" "2" "86479079" "86479079" "subst" "0" "01500" "REEP1_000014" "g.86479079C>A" "" "{PMID:de Bot 2010:21060088}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "" "0" "" "" "g.86251956C>A" "" "pathogenic" "" "0000153192" "0" "90" "2" "86479160" "86479160" "subst" "0" "01500" "REEP1_000029" "g.86479160G>A" "" "{PMID:Loureiro 2013:23400676}" "" "" "genes screened SPAST, ATL1, REEP1" "Germline" "yes" "rs121918263" "0" "" "" "g.86252037G>A" "" "pathogenic" "" "0000153193" "0" "90" "2" "86509311" "86509311" "dup" "0" "01500" "REEP1_000049" "g.86509311dup" "" "{PMID:Ishiura 2014:24451228}" "" "89_90insA" "genes screened SPAST, ATL1, SPG7, L1CAM, PLP1, NIPA1, KIF5A, SPG20, KIAA0196, HSPD1, BSCL2, SPG20, SPG21, REEP1" "Germline" "yes" "" "0" "" "" "g.86282188dup" "" "pathogenic" "" "0000153194" "0" "90" "2" "86459926" "86479079" "del" "0" "01500" "REEP1_000050" "g.(86459926_86479079del)_(86481938_86491087)del" "" "{PMID:Ishiura 2014:24451228}" "" "del Ch2" "genes screened SPAST, ATL1, SPG7, L1CAM, PLP1, NIPA1, KIF5A, SPG20, KIAA0196, HSPD1, BSCL2, SPG20, SPG21, REEP1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153195" "0" "90" "2" "86491104" "86491104" "subst" "0" "01500" "REEP1_000001" "g.86491104C>T" "" "{PMID:Polymeris 2016:27260292}" "" "" "genes screened ATL1, CYP7B1, SPG7, SPAST, REEP1" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.86263981C>T" "" "pathogenic" "" "0000153196" "11" "90" "2" "86491104" "86491104" "subst" "0" "01500" "REEP1_000001" "g.86491104C>T" "" "{PMID:Polymeris 2016:27260292}" "" "" "genes screened ATL1, CYP7B1, SPG7, SPAST, REEP1" "Germline" "yes" "" "0" "" "" "g.86263981C>T" "" "pathogenic" "" "0000153197" "0" "90" "2" "86509292" "86509366" "del" "0" "01500" "REEP1_000022" "g.(86491165_86509292)_(86509366_86564601)del" "" "{PMID:Beetz 2013:24051375}" "" "del exon 2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222315" "1" "99" "2" "86444224" "86444224" "subst" "0" "01500" "REEP1_000051" "g.86444224T>C" "" "Bock et al. Hum Mut, in revision as of Oct 2017" "" "" "" "Germline" "yes" "" "0" "" "" "g.86217101T>C" "" "pathogenic" "" "0000234501" "0" "90" "2" "86491088" "86491088" "subst" "0" "01807" "REEP1_000052" "g.86491088C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.86263965C>T" "" "pathogenic" "" "0000235495" "0" "90" "2" "86459844" "86459844" "del" "0" "01807" "REEP1_000053" "g.86459844del" "" "" "" "501delC" "" "Unknown" "" "" "0" "" "" "g.86232721del" "" "pathogenic" "" "0000242776" "0" "50" "2" "86444346" "86444346" "subst" "0" "01741" "REEP1_000054" "g.86444346G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86217223G>C" "" "VUS" "" "0000245950" "0" "10" "2" "86444252" "86444252" "subst" "0.0206758" "02330" "REEP1_000055" "g.86444252A>C" "" "" "" "REEP1(NM_022912.3):c.596-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86217129A>C" "" "benign" "" "0000246053" "0" "50" "2" "86565198" "86565198" "subst" "1.42818E-5" "02330" "REEP1_000062" "g.86565198A>G" "" "" "" "REEP1(NM_001164730.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86338075A>G" "" "VUS" "" "0000255166" "0" "30" "2" "86509293" "86509293" "subst" "0" "01943" "REEP1_000059" "g.86509293A>G" "" "" "" "REEP1(NM_022912.2):c.105T>C (p.Y35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86282170A>G" "" "likely benign" "" "0000294783" "0" "50" "2" "86479109" "86479109" "subst" "8.13365E-6" "02330" "REEP1_000057" "g.86479109C>T" "" "" "" "REEP1(NM_022912.3):c.388G>A (p.A130T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86251986C>T" "" "VUS" "" "0000294784" "0" "50" "2" "86444173" "86444173" "subst" "0.00052493" "02330" "REEP1_000007" "g.86444173C>T" "" "" "" "REEP1(NM_001164732.2):c.421G>A (p.E141K), REEP1(NM_001371279.1):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86217050C>T" "" "VUS" "" "0000294785" "0" "50" "2" "86459825" "86459825" "subst" "8.31449E-5" "02330" "REEP1_000056" "g.86459825G>A" "" "" "" "REEP1(NM_022912.2):c.518C>T (p.P173L, p.(Pro173Leu)), REEP1(NM_022912.3):c.518C>T (p.P173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86232702G>A" "" "VUS" "" "0000294786" "0" "10" "2" "86565130" "86565130" "subst" "0.00256414" "02330" "REEP1_000060" "g.86565130C>A" "" "" "" "REEP1(NM_001164730.1):c.53+17G>T, REEP1(NM_001164730.2):c.53+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86338007C>A" "" "benign" "" "0000299304" "0" "90" "2" "86479195" "86479195" "subst" "0" "02329" "REEP1_000058" "g.86479195T>G" "" "" "" "REEP1(NM_022912.3):c.304-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86252072T>G" "" "pathogenic" "" "0000301416" "0" "30" "2" "86565139" "86565139" "subst" "0" "02326" "REEP1_000061" "g.86565139G>A" "" "" "" "REEP1(NM_001164730.1):c.53+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86338016G>A" "" "likely benign" "" "0000338833" "0" "10" "2" "86478869" "86478869" "subst" "0" "02327" "REEP1_000064" "g.86478869A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86251746A>C" "" "benign" "" "0000338834" "0" "10" "2" "86478980" "86478980" "subst" "0" "02327" "REEP1_000065" "g.86478980T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86251857T>C" "" "benign" "" "0000338835" "0" "10" "2" "86479035" "86479035" "subst" "0.505057" "02327" "REEP1_000066" "g.86479035A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86251912A>G" "" "benign" "" "0000338836" "0" "10" "2" "86479287" "86479287" "subst" "0" "02327" "REEP1_000067" "g.86479287G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86252164G>T" "" "benign" "" "0000340502" "0" "10" "2" "86481835" "86481835" "subst" "0.475538" "02327" "REEP1_000069" "g.86481835C>T" "" "" "" "REEP1(NM_022912.3):c.285G>A (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86254712C>T" "" "benign" "" "0000346321" "0" "50" "2" "86481873" "86481873" "subst" "0" "02327" "REEP1_000071" "g.86481873C>G" "" "" "" "REEP1(NM_001371279.1):c.247G>C (p.G83R), REEP1(NM_022912.3):c.247G>C (p.G83R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86254750C>G" "" "VUS" "" "0000347358" "0" "90" "2" "86481819" "86481819" "subst" "0" "02327" "REEP1_000068" "g.86481819T>A" "" "" "" "REEP1(NM_001371279.1):c.301A>T (p.K101*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86254696T>A" "" "pathogenic" "" "0000347535" "0" "50" "2" "86509300" "86509300" "subst" "0" "02327" "REEP1_000072" "g.86509300T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86282177T>A" "" "VUS" "" "0000347715" "0" "90" "2" "86564633" "86564633" "subst" "0" "02327" "REEP1_000030" "g.86564633T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86337510T>C" "" "pathogenic" "" "0000351396" "0" "90" "2" "86481939" "86481939" "subst" "0" "02327" "REEP1_000003" "g.86481939T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86254816T>C" "" "pathogenic" "" "0000408196" "0" "99" "2" "86459912" "86459912" "subst" "0" "01500" "REEP1_000075" "g.86459912A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232789A>T" "" "pathogenic" "" "0000408197" "0" "99" "2" "86481926" "86481926" "subst" "0" "01500" "REEP1_000076" "g.86481926T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86254803T>C" "" "pathogenic" "" "0000408198" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408249" "0" "90" "2" "86459912" "86459912" "subst" "0" "01500" "REEP1_000075" "g.86459912A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232789A>T" "" "pathogenic" "" "0000408250" "0" "90" "2" "86459912" "86459912" "subst" "0" "01500" "REEP1_000075" "g.86459912A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232789A>T" "" "pathogenic" "" "0000408255" "0" "90" "2" "86459912" "86459912" "subst" "0" "01500" "REEP1_000075" "g.86459912A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232789A>T" "" "pathogenic" "" "0000408256" "0" "90" "2" "86459912" "86459912" "subst" "0" "01500" "REEP1_000075" "g.86459912A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232789A>T" "" "pathogenic" "" "0000408258" "0" "90" "2" "86509367" "86509367" "subst" "0" "01500" "REEP1_000078" "g.86509367T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86282244T>C" "" "pathogenic" "" "0000408259" "0" "90" "2" "86509367" "86509367" "subst" "0" "01500" "REEP1_000078" "g.86509367T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86282244T>C" "" "pathogenic" "" "0000408260" "0" "90" "2" "86509367" "86509367" "subst" "0" "01500" "REEP1_000078" "g.86509367T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86282244T>C" "" "pathogenic" "" "0000408262" "0" "90" "2" "86509367" "86509367" "subst" "0" "01500" "REEP1_000078" "g.86509367T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86282244T>C" "" "pathogenic" "" "0000408264" "0" "90" "2" "86509367" "86509367" "subst" "0" "01500" "REEP1_000078" "g.86509367T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86282244T>C" "" "pathogenic" "" "0000408265" "0" "90" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408266" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408267" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408268" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408269" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408270" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408271" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408272" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408273" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408274" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408275" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408276" "0" "99" "2" "86479178" "86479181" "del" "0" "01500" "REEP1_000077" "g.86479178_86479181del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86252055_86252058del" "" "pathogenic" "" "0000408278" "0" "99" "2" "86481926" "86481926" "subst" "0" "01500" "REEP1_000076" "g.86481926T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86254803T>C" "" "pathogenic" "" "0000408280" "0" "99" "2" "86481926" "86481926" "subst" "0" "01500" "REEP1_000076" "g.86481926T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86254803T>C" "" "pathogenic" "" "0000408281" "0" "99" "2" "86459913" "86459914" "dup" "0" "01500" "REEP1_000008" "g.86459913_86459914dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232790_86232791dup" "" "pathogenic" "" "0000408282" "0" "99" "2" "86459913" "86459914" "dup" "0" "01500" "REEP1_000008" "g.86459913_86459914dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232790_86232791dup" "" "pathogenic" "" "0000455057" "1" "90" "2" "86444224" "86444224" "subst" "0" "00006" "REEP1_000051" "g.86444224T>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.86217101T>C" "" "pathogenic" "" "0000455058" "2" "90" "2" "86444209" "86444209" "subst" "0.000123079" "00006" "REEP1_000017" "g.86444209G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.86217086G>A" "" "pathogenic" "" "0000517048" "0" "10" "2" "86444068" "86444068" "subst" "0" "02327" "MRPL35_000001" "g.86444068A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86216945A>G" "" "benign" "" "0000517049" "0" "30" "2" "86444238" "86444238" "subst" "4.1025E-6" "02330" "MRPL35_000002" "g.86444238T>C" "" "" "" "REEP1(NM_022912.3):c.596-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86217115T>C" "" "likely benign" "" "0000517051" "0" "50" "2" "86459814" "86459814" "subst" "0.000261159" "01943" "REEP1_000079" "g.86459814G>A" "" "" "" "REEP1(NM_022912.2):c.529C>T (p.R177W), REEP1(NM_022912.3):c.529C>T (p.R177W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86232691G>A" "" "VUS" "" "0000517052" "0" "90" "2" "86459836" "86459836" "del" "0" "02327" "REEP1_000080" "g.86459836del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86232713del" "" "pathogenic" "" "0000517053" "0" "10" "2" "86481835" "86481835" "subst" "0.475538" "02330" "REEP1_000069" "g.86481835C>T" "" "" "" "REEP1(NM_022912.3):c.285G>A (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86254712C>T" "" "benign" "" "0000517054" "0" "10" "2" "86481835" "86481835" "subst" "0.475538" "02325" "REEP1_000069" "g.86481835C>T" "" "" "" "REEP1(NM_022912.3):c.285G>A (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86254712C>T" "" "benign" "" "0000517055" "0" "30" "2" "86509338" "86509338" "subst" "0.000130002" "02330" "REEP1_000081" "g.86509338C>T" "" "" "" "REEP1(NM_022912.3):c.60G>A (p.A20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86282215C>T" "" "likely benign" "" "0000517056" "0" "90" "2" "86509339" "86509339" "subst" "0" "01943" "REEP1_000005" "g.86509339G>T" "" "" "" "REEP1(NM_022912.2):c.59C>A (p.A20E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86282216G>T" "" "pathogenic" "" "0000608141" "0" "10" "2" "86444180" "86444180" "subst" "0.000766921" "02330" "REEP1_000006" "g.86444180C>A" "" "" "" "REEP1(NM_001164732.2):c.414G>T (p.S138=), REEP1(NM_001371279.1):c.837G>T (p.S279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86217057C>A" "" "benign" "" "0000608143" "0" "50" "2" "86481860" "86481860" "subst" "0" "02327" "REEP1_000083" "g.86481860A>G" "" "" "" "REEP1(NM_022912.3):c.260T>C (p.L87P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86254737A>G" "" "VUS" "" "0000608144" "0" "90" "2" "86491146" "86491146" "subst" "0" "02325" "REEP1_000025" "g.86491146A>G" "" "" "" "REEP1(NM_022912.3):c.124T>C (p.W42R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86264023A>G" "" "pathogenic" "" "0000621127" "0" "10" "2" "86459857" "86459857" "subst" "0.00109769" "02330" "REEP1_000082" "g.86459857G>A" "" "" "" "REEP1(NM_001164732.2):c.251C>T (p.T84M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86232734G>A" "" "benign" "" "0000631917" "0" "70" "2" "86564601" "86564601" "subst" "0" "01807" "REEP1_000084" "g.86564601C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.86337478C>A" "" "likely pathogenic" "" "0000650704" "1" "30" "2" "86443208" "86443208" "subst" "0" "03575" "REEP1_000085" "g.86443208C>T" "36/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous, no homozygous; {DB:CLININrs17510310}" "Germline" "" "rs17510310" "0" "" "" "g.86216085C>T" "" "likely benign" "" "0000650705" "1" "50" "2" "86459814" "86459814" "subst" "0.000261159" "03575" "REEP1_000079" "g.86459814G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs144874997}" "Germline" "" "rs144874997" "0" "" "" "g.86232691G>A" "" "VUS" "" "0000654731" "0" "30" "2" "86459814" "86459814" "subst" "0.000261159" "02325" "REEP1_000079" "g.86459814G>A" "" "" "" "REEP1(NM_022912.2):c.529C>T (p.R177W), REEP1(NM_022912.3):c.529C>T (p.R177W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86232691G>A" "" "likely benign" "" "0000664100" "0" "70" "2" "86481929" "86481929" "subst" "0" "00006" "REEP1_000086" "g.86481929A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "NM_001164730.1:c.212T>C" "" "Germline" "" "" "0" "" "" "g.86254806A>G" "" "likely pathogenic (dominant)" "" "0000664187" "0" "90" "2" "86444173" "86444173" "subst" "0.00052493" "00006" "REEP1_000007" "g.86444173C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs189652973" "0" "" "" "g.86217050C>T" "" "pathogenic (dominant)" "" "0000673655" "0" "70" "2" "86564632" "86564632" "subst" "0" "01807" "REEP1_000087" "g.86564632A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000676731" "0" "50" "2" "86509337" "86509337" "subst" "0" "02327" "REEP1_000088" "g.86509337A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704064" "0" "50" "2" "86491106" "86491106" "subst" "0" "01164" "REEP1_000033" "g.86491106G>T" "" "PMID: 24478229; PMID: 18644145" "" "" "ACMG: PM2, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000719083" "0" "30" "2" "86444174" "86444174" "subst" "0.00012303" "02330" "MRPL35_000003" "g.86444174G>A" "" "" "" "REEP1(NM_001164732.2):c.420C>T (p.T140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719084" "0" "30" "2" "86459761" "86459761" "subst" "0.000758344" "01804" "REEP1_000089" "g.86459761G>A" "" "" "" "REEP1(NM_001164730.1):c.603C>T (p.(=)), REEP1(NM_001164732.2):c.347C>T (p.A116V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719085" "0" "30" "2" "86459814" "86459814" "subst" "0.000261159" "02326" "REEP1_000079" "g.86459814G>A" "" "" "" "REEP1(NM_022912.2):c.529C>T (p.R177W), REEP1(NM_022912.3):c.529C>T (p.R177W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719086" "0" "90" "2" "86479079" "86479079" "subst" "0" "02329" "REEP1_000014" "g.86479079C>A" "" "" "" "REEP1(NM_022912.3):c.417+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719087" "0" "90" "2" "86479106" "86479127" "del" "0" "02327" "REEP1_000090" "g.86479106_86479127del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800839" "0" "90" "2" "86479194" "86479194" "subst" "0" "02330" "REEP1_000091" "g.86479194C>A" "" "" "" "REEP1(NM_001371279.1):c.304-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000831397" "3" "90" "2" "86481873" "86481873" "del" "0" "04212" "REEP1_000093" "g.86481873del" "" "{PMID:Kanwal 2021:34193129}" "" "247delG" "" "Germline" "yes" "" "0" "" "" "g.86254750del" "" "likely pathogenic (recessive)" "" "0000847166" "0" "90" "2" "86459836" "86459836" "del" "0" "00006" "REEP1_000002" "g.86459836del" "" "{PMID:Thomas 2022:34085946}" "" "c.431delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.86232713del" "" "pathogenic" "" "0000850058" "0" "90" "2" "86481819" "86481819" "subst" "0" "02329" "REEP1_000068" "g.86481819T>A" "" "" "" "REEP1(NM_001371279.1):c.301A>T (p.K101*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850059" "0" "50" "2" "86481873" "86481873" "subst" "0" "02325" "REEP1_000071" "g.86481873C>G" "" "" "" "REEP1(NM_001371279.1):c.247G>C (p.G83R), REEP1(NM_022912.3):c.247G>C (p.G83R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850060" "0" "30" "2" "86565171" "86565171" "subst" "0" "02330" "REEP1_000094" "g.86565171G>T" "" "" "" "REEP1(NM_001164730.2):c.29C>A (p.T10N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858717" "0" "30" "2" "86459825" "86459825" "subst" "8.31449E-5" "01943" "REEP1_000056" "g.86459825G>A" "" "" "" "REEP1(NM_022912.2):c.518C>T (p.P173L, p.(Pro173Leu)), REEP1(NM_022912.3):c.518C>T (p.P173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885425" "0" "30" "2" "86444250" "86444253" "del" "0" "02326" "REEP1_000063" "g.86444250_86444253del" "" "" "" "REEP1(NM_001371279.1):c.784-18_784-15delTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885426" "0" "50" "2" "86481860" "86481860" "subst" "0" "02325" "REEP1_000083" "g.86481860A>G" "" "" "" "REEP1(NM_022912.3):c.260T>C (p.L87P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885427" "0" "50" "2" "86481873" "86481873" "subst" "0" "02329" "REEP1_000071" "g.86481873C>G" "" "" "" "REEP1(NM_001371279.1):c.247G>C (p.G83R), REEP1(NM_022912.3):c.247G>C (p.G83R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885428" "0" "10" "2" "86565130" "86565130" "subst" "0.00256414" "02326" "REEP1_000060" "g.86565130C>A" "" "" "" "REEP1(NM_001164730.1):c.53+17G>T, REEP1(NM_001164730.2):c.53+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911785" "0" "90" "2" "86479195" "86479195" "subst" "0" "02327" "REEP1_000058" "g.86479195T>G" "" "" "" "REEP1(NM_022912.3):c.304-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947978" "0" "10" "2" "86459761" "86459761" "subst" "0.000758344" "02330" "REEP1_000089" "g.86459761G>A" "" "" "" "REEP1(NM_001164730.1):c.603C>T (p.(=)), REEP1(NM_001164732.2):c.347C>T (p.A116V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962308" "0" "30" "2" "86509310" "86509310" "subst" "4.06286E-6" "02327" "REEP1_000096" "g.86509310T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975445" "0" "30" "2" "86444180" "86444180" "subst" "0.000766921" "02326" "REEP1_000006" "g.86444180C>A" "" "" "" "REEP1(NM_001164732.2):c.414G>T (p.S138=), REEP1(NM_001371279.1):c.837G>T (p.S279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986034" "11" "90" "2" "86459341" "86460522" "del" "0" "00006" "REEP1_000097" "g.86459341_86460522del" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "del ex6" "16kb deletion" "Germline" "" "" "0" "" "g.86232299_86233401del" "g.86232218_86233399del" "" "likely pathogenic (dominant)" "" "0000986096" "21" "90" "2" "86554927" "86554927" "subst" "0" "00006" "REEP1_000098" "g.86554927T>C" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "" "variant prdicted to activate a cryptic splice donor site" "Germline" "yes" "" "0" "" "" "g.86327804T>C" "" "pathogenic (dominant)" "" "0000993065" "0" "30" "2" "86444173" "86444173" "subst" "0.00052493" "02326" "REEP1_000007" "g.86444173C>T" "" "" "" "REEP1(NM_001164732.2):c.421G>A (p.E141K), REEP1(NM_001371279.1):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993066" "0" "30" "2" "86459825" "86459825" "subst" "8.31449E-5" "01804" "REEP1_000056" "g.86459825G>A" "" "" "" "REEP1(NM_022912.2):c.518C>T (p.P173L, p.(Pro173Leu)), REEP1(NM_022912.3):c.518C>T (p.P173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024686" "0" "90" "2" "86491096" "86491096" "del" "0" "02325" "REEP1_000099" "g.86491096del" "" "" "" "REEP1(NM_022912.3):c.175delC (p.L59Ffs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes REEP1 ## Count = 331 "{{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}}" "0000067194" "00017606" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "3" "0000094268" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000094269" "00017606" "90" "656" "0" "656" "0" "c.*50G>A" "r.(?)" "p.(=)" "7" "0000094270" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.Ala20Glu" "2" "0000148360" "00017606" "99" "429" "0" "430" "0" "c.429_430dup" "r.(?)" "p.(Leu144Serfs*80)" "6" "0000152965" "00017606" "90" "528" "0" "528" "0" "c.528del" "r.(?)" "p.(Arg177Glyfs*46)" "6" "0000152966" "00017606" "90" "528" "0" "528" "0" "c.528del" "r.(?)" "p.(Arg177Glyfs*46)" "6" "0000152970" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152971" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152972" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152973" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152974" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152975" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152976" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152977" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000152978" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152979" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152980" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152981" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152982" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152983" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152984" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152985" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000152986" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152987" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152988" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152989" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152990" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152991" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152992" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152993" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152994" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152995" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152996" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152997" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152998" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000152999" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000153000" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000153001" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "6" "0000153002" "00017606" "90" "-1" "0" "2" "0" "c.-1_2del" "r.(?)" "p.0?" "1" "0000153003" "00017606" "90" "-1" "0" "2" "0" "c.-1_2del" "r.(?)" "p.0?" "1" "0000153004" "00017606" "90" "-1" "0" "2" "0" "c.-1_2del" "r.(?)" "p.0?" "1" "0000153005" "00017606" "90" "-1" "0" "2" "0" "c.-1_2del" "r.(?)" "p.0?" "1" "0000153006" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153007" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153008" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153009" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153010" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153011" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153012" "00017606" "90" "104" "0" "105" "0" "c.104_105del" "r.(?)" "p.(Tyr35Cysfs*32)" "2" "0000153013" "00017606" "90" "183" "-1" "183" "0" "c.183-1_183insCT" "r.spl" "p.?" "3i_4" "0000153014" "00017606" "90" "183" "-1" "183" "0" "c.183-1_183insCT" "r.spl" "p.?" "3i_4" "0000153015" "00017606" "90" "183" "-1" "183" "0" "c.183-1_183insCT" "r.spl" "p.?" "3i_4" "0000153018" "00017606" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Thr95Argfs*32)" "4" "0000153019" "00017606" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Thr95Argfs*32)" "4" "0000153020" "00017606" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Thr95Argfs*32)" "4" "0000153021" "00017606" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Thr95Argfs*32)" "4" "0000153022" "00017606" "90" "303" "0" "303" "0" "c.303G>A" "r.spl?" "p.(Lys101=)" "4" "0000153023" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153024" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153025" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153026" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153027" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153028" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153029" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153030" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153031" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153032" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153033" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153034" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153035" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153036" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153037" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153038" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153039" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153040" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153041" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153042" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153043" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153044" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153045" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153046" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153047" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153048" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153049" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153050" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153051" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153052" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153053" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153054" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153055" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153056" "00017606" "90" "537" "0" "540" "0" "c.537_540del" "r.(?)" "p.(Ser179Argfs*43)" "6" "0000153057" "00017606" "90" "595" "0" "595" "0" "c.595G>C" "r.spl?" "p.(Gly199Arg)" "6" "0000153058" "00017606" "90" "595" "0" "595" "0" "c.595G>C" "r.spl?" "p.(Gly199Arg)" "6" "0000153060" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153061" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153062" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153063" "00017606" "90" "33" "-1" "607" "0" "c.(32+1_33-1)_(*1_?)dup" "r.?" "p.?" "1i_7_" "0000153064" "00017606" "90" "33" "-1" "607" "0" "c.(32+1_33-1)_(*1_?)dup" "r.?" "p.?" "1i_7_" "0000153065" "00017606" "90" "49" "0" "49" "0" "c.49del" "r.(?)" "p.(Leu17Phefs*11)" "2" "0000153066" "00017606" "90" "49" "0" "49" "0" "c.49del" "r.(?)" "p.(Leu17Phefs*11)" "2" "0000153067" "00017606" "90" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Pro19Leu)" "2" "0000153068" "00017606" "90" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Pro19Leu)" "2" "0000153069" "00017606" "90" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ser23Phe)" "2" "0000153070" "00017606" "90" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ser23Phe)" "2" "0000153071" "00017606" "90" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ser23Phe)" "2" "0000153072" "00017606" "90" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ser23Phe)" "2" "0000153073" "00017606" "90" "33" "-1" "105" "1" "c.(32+1_33-1)_(105+1_106-1)del" "r.?" "p.?" "1i_2i" "0000153074" "00017606" "90" "33" "-1" "105" "1" "c.(32+1_33-1)_(105+1_106-1)del" "r.?" "p.?" "1i_2i" "0000153075" "00017606" "90" "33" "-1" "105" "1" "c.(32+1_33-1)_(105+1_106-1)del" "r.?" "p.?" "1i_2i" "0000153076" "00017606" "90" "33" "-1" "105" "1" "c.(32+1_33-1)_(105+1_106-1)del" "r.?" "p.?" "1i_2i" "0000153077" "00017606" "90" "33" "-1" "105" "1" "c.(32+1_33-1)_(105+1_106-1)del" "r.?" "p.?" "1i_2i" "0000153078" "00017606" "90" "106" "-4" "106" "-4" "c.106-4A>G" "r.spl" "p.?" "2i" "0000153079" "00017606" "90" "106" "-4" "106" "-4" "c.106-4A>G" "r.spl" "p.?" "2i" "0000153080" "00017606" "90" "106" "-4" "106" "-4" "c.106-4A>G" "r.spl" "p.?" "2i" "0000153081" "00017606" "90" "106" "-4" "106" "-4" "c.106-4A>G" "r.spl" "p.?" "2i" "0000153082" "00017606" "90" "106" "0" "106" "0" "c.106del" "r.(?)" "p.(Val36SerfsTer4)" "3" "0000153083" "00017606" "90" "106" "0" "106" "0" "c.106del" "r.(?)" "p.(Val36SerfsTer4)" "3" "0000153084" "00017606" "90" "106" "0" "106" "0" "c.106del" "r.(?)" "p.(Val36SerfsTer4)" "3" "0000153085" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "3" "0000153086" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "3" "0000153087" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "3" "0000153088" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "3" "0000153089" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "3" "0000153090" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "3" "0000153091" "00017606" "90" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "3" "0000153092" "00017606" "90" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "3" "0000153093" "00017606" "90" "106" "-1" "182" "1" "c.(105+1_106-1)_(182+1_183-1)del" "r.?" "p.?" "2i_3i" "0000153094" "00017606" "90" "106" "-1" "182" "1" "c.(105+1_106-1)_(182+1_183-1)del" "r.?" "p.?" "2i_3i" "0000153095" "00017606" "90" "106" "-1" "182" "1" "c.(105+1_106-1)_(182+1_183-1)del" "r.?" "p.?" "2i_3i" "0000153096" "00017606" "90" "106" "-1" "182" "1" "c.(105+1_106-1)_(182+1_183-1)del" "r.?" "p.?" "2i_3i" "0000153097" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153098" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153099" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153100" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153101" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153102" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153103" "00017606" "90" "198" "0" "198" "0" "c.198T>G" "r.(?)" "p.(Tyr66*)" "4" "0000153104" "00017606" "90" "198" "0" "198" "0" "c.198T>G" "r.(?)" "p.(Tyr66*)" "4" "0000153105" "00017606" "90" "198" "0" "198" "0" "c.198T>G" "r.(?)" "p.(Tyr66*)" "4" "0000153106" "00017606" "90" "366" "0" "366" "0" "c.366G>T" "r.(?)" "p.(=)" "5" "0000153107" "00017606" "90" "366" "0" "366" "0" "c.366G>T" "r.(?)" "p.(=)" "5" "0000153108" "00017606" "90" "366" "0" "366" "0" "c.366G>T" "r.(?)" "p.(=)" "5" "0000153109" "00017606" "90" "366" "0" "366" "0" "c.366G>T" "r.(?)" "p.(=)" "5" "0000153110" "00017606" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000153111" "00017606" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000153112" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153113" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153114" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153115" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153116" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153117" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153118" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153119" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153120" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153121" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "4i" "0000153122" "00017606" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000153123" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153124" "00017606" "90" "60" "0" "60" "0" "c.60del" "r.(?)" "p.(Tyr21Ilefs*7)" "2" "0000153125" "00017606" "90" "60" "0" "60" "0" "c.60del" "r.(?)" "p.(Tyr21Ilefs*7)" "2" "0000153126" "00017606" "90" "105" "6" "105" "6" "c.105+6T>C" "r.spl?" "p.(=)" "2i" "0000153127" "00017606" "90" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Thr55Lys)" "3" "0000153128" "00017606" "90" "183" "0" "184" "0" "c.183_184insCT" "r.(?)" "p.(Phe62Leufs*8)" "4" "0000153129" "00017606" "90" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Leu107Pro)" "5" "0000153130" "00017606" "90" "340" "0" "347" "0" "c.340_347del" "r.(?)" "p.(Ser114Cysfs*70)" "5" "0000153131" "00017606" "90" "345" "0" "345" "0" "c.345C>A" "r.(?)" "p.(Tyr115*)" "5" "0000153132" "00017606" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Gln141Thrfs*46)" "6" "0000153133" "00017606" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Gln141Thrfs*46)" "6" "0000153134" "00017606" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Gln141Thrfs*46)" "6" "0000153135" "00017606" "90" "478" "0" "478" "0" "c.478del" "r.(?)" "p.(Arg160Glyfs*63)" "6" "0000153136" "00017606" "90" "478" "0" "478" "0" "c.478del" "r.(?)" "p.(Arg160Glyfs*63)" "6" "0000153137" "00017606" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000153138" "00017606" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000153139" "00017606" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000153140" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153141" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153142" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153143" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153144" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153145" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153146" "00017606" "90" "304" "-2" "304" "-2" "c.304-2A>G" "r.spl" "p.?" "4i" "0000153147" "00017606" "90" "304" "-2" "304" "-2" "c.304-2A>G" "r.spl" "p.?" "4i" "0000153148" "00017606" "90" "304" "-2" "304" "-2" "c.304-2A>G" "r.spl" "p.?" "4i" "0000153149" "00017606" "90" "304" "-2" "304" "-2" "c.304-2A>G" "r.spl" "p.?" "4i" "0000153150" "00017606" "90" "303" "1" "303" "7" "c.303+1_303+7delinsAC" "r.spl" "p.?" "4i" "0000153151" "00017606" "90" "303" "1" "303" "7" "c.303+1_303+7delinsAC" "r.spl" "p.?" "4i" "0000153152" "00017606" "90" "303" "1" "303" "7" "c.303+1_303+7delinsAC" "r.spl" "p.?" "4i" "0000153153" "00017606" "90" "303" "1" "303" "7" "c.303+1_303+7delinsAC" "r.spl" "p.?" "4i" "0000153154" "00017606" "90" "303" "1" "303" "7" "c.303+1_303+7delinsAC" "r.spl" "p.?" "4i" "0000153155" "00017606" "90" "56" "0" "56" "0" "c.56C>G" "r.(?)" "p.(Pro19Arg)" "2" "0000153156" "00017606" "90" "56" "0" "56" "0" "c.56C>G" "r.(?)" "p.(Pro19Arg)" "2" "0000153157" "00017606" "90" "56" "0" "56" "0" "c.56C>G" "r.(?)" "p.(Pro19Arg)" "2" "0000153158" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153159" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153160" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153161" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153162" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl" "p.?" "3i" "0000153163" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153164" "00017606" "90" "649" "0" "649" "0" "c.*43G>T" "r.(?)" "p.(=)" "7" "0000153165" "00017606" "90" "656" "0" "656" "0" "c.*50G>A" "r.(?)" "p.(=)" "7" "0000153166" "00017606" "90" "209" "0" "209" "0" "c.209T>G" "r.(?)" "p.(Ile70Arg)" "4" "0000153167" "00017606" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(=)" "4" "0000153168" "00017606" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(=)" "4" "0000153169" "00017606" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(=)" "4" "0000153170" "00017606" "90" "203" "0" "203" "0" "c.203T>A" "r.(?)" "p.(Leu68Gln)" "4" "0000153171" "00017606" "90" "203" "0" "203" "0" "c.203T>A" "r.(?)" "p.(Leu68Gln)" "4" "0000153172" "00017606" "90" "203" "0" "203" "0" "c.203T>A" "r.(?)" "p.(Leu68Gln)" "4" "0000153173" "00017606" "90" "33" "-1" "417" "1" "c.(32+1_33-1)_(417+1_418-1)del" "r.?" "p.?" "1i_5i" "0000153174" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153175" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153176" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153177" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153178" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153179" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153180" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153181" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153182" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153183" "00017606" "90" "417" "1" "417" "1" "c.417+1G>A" "r.spl" "p.?" "5i" "0000153184" "00017606" "90" "-1" "0" "607" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0?" "_1_7_" "0000153185" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000153186" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000153187" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "2" "0000153188" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153189" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153190" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153191" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl" "p.?" "5i" "0000153192" "00017606" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "5" "0000153193" "00017606" "90" "89" "0" "89" "0" "c.89dup" "r.(?)" "p.(Asp31Glyfs*3)" "2" "0000153194" "00017606" "90" "183" "-1" "417" "1" "c.(182+1_183-1)_(417+1_418-1)del" "r.?" "p.?" "3i_5i" "0000153195" "00017606" "90" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "3" "0000153196" "00017606" "90" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Asp56Asn)" "3" "0000153197" "00017606" "90" "33" "-1" "105" "1" "c.(32+1_33-1)_(105+1_106-1)del" "r.?" "p.?" "1i_2i" "0000222315" "00017606" "99" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(*202Trpext*54)" "7" "0000234501" "00017606" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Trp61*)" "" "0000235495" "00017606" "90" "501" "0" "501" "0" "c.501del" "r.(?)" "p.(Ser168Argfs*55)" "6" "0000242776" "00017606" "50" "596" "-113" "596" "-113" "c.596-113C>G" "r.(?)" "p.(=)" "6i" "0000245950" "00017606" "10" "596" "-19" "596" "-19" "c.596-19T>G" "r.(=)" "p.(=)" "" "0000246053" "00017606" "50" "-565" "0" "-565" "0" "c.-565T>C" "r.(?)" "p.(=)" "" "0000255166" "00017606" "30" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(Tyr35=)" "" "0000294783" "00017606" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Ala130Thr)" "" "0000294784" "00017606" "50" "656" "0" "656" "0" "c.*50G>A" "r.(=)" "p.(=)" "" "0000294785" "00017606" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000294786" "00017606" "10" "-497" "0" "-497" "0" "c.-497G>T" "r.(?)" "p.(=)" "" "0000299304" "00017606" "90" "304" "-2" "304" "-2" "c.304-2A>C" "r.spl?" "p.?" "" "0000301416" "00017606" "30" "-506" "0" "-506" "0" "c.-506C>T" "r.(?)" "p.(=)" "" "0000338833" "00017606" "10" "417" "211" "417" "211" "c.417+211T>G" "r.(=)" "p.(=)" "" "0000338834" "00017606" "10" "417" "100" "417" "100" "c.417+100A>G" "r.(=)" "p.(=)" "" "0000338835" "00017606" "10" "417" "45" "417" "45" "c.417+45T>C" "r.(=)" "p.(=)" "" "0000338836" "00017606" "10" "304" "-94" "304" "-94" "c.304-94C>A" "r.(=)" "p.(=)" "" "0000340502" "00017606" "10" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Thr95=)" "" "0000346321" "00017606" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Gly83Arg)" "" "0000347358" "00017606" "90" "301" "0" "301" "0" "c.301A>T" "r.(?)" "p.(Lys101Ter)" "" "0000347535" "00017606" "50" "98" "0" "98" "0" "c.98A>T" "r.(?)" "p.(Lys33Met)" "" "0000347715" "00017606" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000351396" "00017606" "90" "183" "-2" "183" "-2" "c.183-2A>G" "r.spl?" "p.?" "" "0000408196" "00017606" "99" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Leu144*)" "6" "0000408197" "00017606" "99" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Tyr65Cys)" "4" "0000408198" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408249" "00017606" "90" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Leu144*)" "6" "0000408250" "00017606" "90" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Leu144*)" "6" "0000408255" "00017606" "90" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Leu144*)" "6" "0000408256" "00017606" "90" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Leu144*)" "6" "0000408258" "00017606" "90" "33" "-2" "33" "-2" "c.33-2A>G" "r.spl?" "p.(Val11Valfs)" "" "0000408259" "00017606" "90" "33" "-2" "33" "-2" "c.33-2A>G" "r.spl?" "p.(Val11Valfs)" "" "0000408260" "00017606" "90" "33" "-2" "33" "-2" "c.33-2A>G" "r.spl?" "p.(Val11Valfs)" "" "0000408262" "00017606" "90" "33" "-2" "33" "-2" "c.33-2A>G" "r.spl?" "p.(Val11Valfs)" "" "0000408264" "00017606" "90" "33" "-2" "33" "-2" "c.33-2A>G" "r.spl?" "p.(Val11Valfs)" "" "0000408265" "00017606" "90" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408266" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408267" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408268" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408269" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408270" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408271" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408272" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408273" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408274" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408275" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408276" "00017606" "99" "318" "0" "321" "0" "c.318_321del" "r.(?)" "p.(Cys106Trpfs*20)" "5" "0000408278" "00017606" "99" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Tyr65Cys)" "4" "0000408280" "00017606" "99" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Tyr65Cys)" "4" "0000408281" "00017606" "99" "429" "0" "430" "0" "c.429_430dup" "r.(?)" "p.(Leu144Serfs*80)" "6" "0000408282" "00017606" "99" "429" "0" "430" "0" "c.429_430dup" "r.(?)" "p.(Leu144Serfs*80)" "6" "0000455057" "00017606" "90" "605" "0" "605" "0" "c.605A>G" "r.(?)" "p.(*202Trpext*54)" "" "0000455058" "00017606" "90" "620" "0" "620" "0" "c.*14C>T" "r.(?)" "p.(=)" "" "0000517048" "00017606" "10" "761" "0" "761" "0" "c.*155T>C" "r.(=)" "p.(=)" "" "0000517049" "00017606" "30" "596" "-5" "596" "-5" "c.596-5A>G" "r.spl?" "p.?" "" "0000517051" "00017606" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000517052" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171HisfsTer52)" "" "0000517053" "00017606" "10" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Thr95=)" "" "0000517054" "00017606" "10" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Thr95=)" "" "0000517055" "00017606" "30" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Ala20=)" "" "0000517056" "00017606" "90" "59" "0" "59" "0" "c.59C>A" "r.(?)" "p.(Ala20Glu)" "" "0000608141" "00017606" "10" "649" "0" "649" "0" "c.*43G>T" "r.(=)" "p.(=)" "" "0000608143" "00017606" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "" "0000608144" "00017606" "90" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Trp42Arg)" "" "0000621127" "00017606" "10" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Asp162=)" "" "0000631917" "00017606" "70" "32" "1" "32" "1" "c.32+1G>T" "r.spl?" "p.?" "" "0000650704" "00017606" "30" "1621" "0" "1621" "0" "c.*1015G>A" "r.(=)" "p.(=)" "" "0000650705" "00017606" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000654731" "00017606" "30" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000664100" "00017606" "70" "191" "0" "191" "0" "c.191T>C" "r.(?)" "p.(Phe64Ser)" "" "0000664187" "00017606" "90" "656" "0" "656" "0" "c.*50G>A" "r.(?)" "p.(=)" "" "0000673655" "00017606" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000676731" "00017606" "50" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Tyr21His)" "" "0000704064" "00017606" "50" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Thr55Lys)" "3" "0000719083" "00017606" "30" "655" "0" "655" "0" "c.*49C>T" "r.(=)" "p.(=)" "" "0000719084" "00017606" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Ser194=)" "" "0000719085" "00017606" "30" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000719086" "00017606" "90" "417" "1" "417" "1" "c.417+1G>T" "r.spl?" "p.?" "" "0000719087" "00017606" "90" "371" "0" "392" "0" "c.371_392del" "r.(?)" "p.(Arg124Glnfs*4)" "" "0000800839" "00017606" "90" "304" "-1" "304" "-1" "c.304-1G>T" "r.spl?" "p.?" "" "0000831397" "00017606" "90" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Gly83Alafs*44)" "" "0000847166" "00017606" "90" "512" "0" "512" "0" "c.512del" "r.(?)" "p.(Pro171Hisfs*52)" "" "0000850058" "00017606" "90" "301" "0" "301" "0" "c.301A>T" "r.(?)" "p.(Lys101Ter)" "" "0000850059" "00017606" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Gly83Arg)" "" "0000850060" "00017606" "30" "-538" "0" "-538" "0" "c.-538C>A" "r.(?)" "p.(=)" "" "0000858717" "00017606" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000885425" "00017606" "30" "596" "-18" "596" "-15" "c.596-18_596-15del" "r.(=)" "p.(=)" "" "0000885426" "00017606" "50" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "" "0000885427" "00017606" "50" "247" "0" "247" "0" "c.247G>C" "r.(?)" "p.(Gly83Arg)" "" "0000885428" "00017606" "10" "-497" "0" "-497" "0" "c.-497G>T" "r.(?)" "p.(=)" "" "0000911785" "00017606" "90" "304" "-2" "304" "-2" "c.304-2A>C" "r.spl?" "p.?" "" "0000947978" "00017606" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Ser194=)" "" "0000962308" "00017606" "30" "88" "0" "88" "0" "c.88A>C" "r.(?)" "p.(Lys30Gln)" "" "0000975445" "00017606" "30" "649" "0" "649" "0" "c.*43G>T" "r.(=)" "p.(=)" "" "0000986034" "00017606" "90" "418" "-597" "595" "407" "c.418-597_595+407del" "r.?" "p.?" "5i_6i" "0000986096" "00017606" "90" "32" "9675" "32" "9675" "c.32+9675A>G" "r.(32_33insN[?])" "p.?" "1i" "0000993065" "00017606" "30" "656" "0" "656" "0" "c.*50G>A" "r.(=)" "p.(=)" "" "0000993066" "00017606" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0001024686" "00017606" "90" "175" "0" "175" "0" "c.175del" "r.(?)" "p.(Leu59Phefs*10)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 274 "{{screeningid}}" "{{variantid}}" "0000039593" "0000067194" "0000063244" "0000094268" "0000063245" "0000094269" "0000090271" "0000148360" "0000094423" "0000152965" "0000094424" "0000152966" "0000094428" "0000152970" "0000094429" "0000152971" "0000094430" "0000152972" "0000094431" "0000152973" "0000094432" "0000152974" "0000094433" "0000152975" "0000094434" "0000152976" "0000094435" "0000152977" "0000094436" "0000152978" "0000094437" "0000152979" "0000094438" "0000152980" "0000094439" "0000152981" "0000094440" "0000152982" "0000094441" "0000152983" "0000094442" "0000152984" "0000094443" "0000152985" "0000094444" "0000152986" "0000094445" "0000152987" "0000094446" "0000152988" "0000094447" "0000152989" "0000094448" "0000152990" "0000094449" "0000152991" "0000094450" "0000152992" "0000094451" "0000152993" "0000094452" "0000152994" "0000094453" "0000152995" "0000094454" "0000152996" "0000094455" "0000152997" "0000094456" "0000152998" "0000094457" "0000152999" "0000094458" "0000153000" "0000094459" "0000153001" "0000094460" "0000153002" "0000094461" "0000153003" "0000094462" "0000153004" "0000094463" "0000153005" "0000094464" "0000153006" "0000094465" "0000153007" "0000094466" "0000153008" "0000094467" "0000153009" "0000094468" "0000153010" "0000094469" "0000153011" "0000094470" "0000153012" "0000094471" "0000153013" "0000094472" "0000153014" "0000094473" "0000153015" "0000094476" "0000153018" "0000094477" "0000153019" "0000094478" "0000153020" "0000094479" "0000153021" "0000094480" "0000153022" "0000094481" "0000153023" "0000094482" "0000153024" "0000094483" "0000153025" "0000094484" "0000153026" "0000094485" "0000153027" "0000094486" "0000153028" "0000094487" "0000153029" "0000094488" "0000153030" "0000094489" "0000153031" "0000094490" "0000153032" "0000094491" "0000153033" "0000094492" "0000153034" "0000094493" "0000153035" "0000094494" "0000153036" "0000094495" "0000153037" "0000094496" "0000153038" "0000094497" "0000153039" "0000094498" "0000153040" "0000094499" "0000153041" "0000094500" "0000153042" "0000094501" "0000153043" "0000094502" "0000153044" "0000094503" "0000153045" "0000094504" "0000153046" "0000094505" "0000153047" "0000094506" "0000153048" "0000094507" "0000153049" "0000094508" "0000153050" "0000094509" "0000153051" "0000094510" "0000153052" "0000094511" "0000153053" "0000094512" "0000153054" "0000094513" "0000153055" "0000094514" "0000153056" "0000094515" "0000153057" "0000094516" "0000153058" "0000094518" "0000153060" "0000094519" "0000153061" "0000094520" "0000153062" "0000094521" "0000153063" "0000094522" "0000153064" "0000094523" "0000153065" "0000094524" "0000153066" "0000094525" "0000153067" "0000094526" "0000153068" "0000094527" "0000153069" "0000094528" "0000153070" "0000094529" "0000153071" "0000094530" "0000153072" "0000094531" "0000153073" "0000094532" "0000153074" "0000094533" "0000153075" "0000094534" "0000153076" "0000094535" "0000153077" "0000094536" "0000153078" "0000094537" "0000153079" "0000094538" "0000153080" "0000094539" "0000153081" "0000094540" "0000153082" "0000094541" "0000153083" "0000094542" "0000153084" "0000094543" "0000153085" "0000094544" "0000153086" "0000094545" "0000153087" "0000094546" "0000153088" "0000094547" "0000153089" "0000094548" "0000153090" "0000094549" "0000153091" "0000094550" "0000153092" "0000094551" "0000153093" "0000094552" "0000153094" "0000094553" "0000153095" "0000094554" "0000153096" "0000094555" "0000153097" "0000094556" "0000153098" "0000094557" "0000153099" "0000094558" "0000153100" "0000094559" "0000153101" "0000094560" "0000153102" "0000094561" "0000153103" "0000094562" "0000153104" "0000094563" "0000153105" "0000094564" "0000153106" "0000094565" "0000153107" "0000094566" "0000153108" "0000094567" "0000153109" "0000094568" "0000153110" "0000094569" "0000153111" "0000094570" "0000153112" "0000094571" "0000153113" "0000094572" "0000153114" "0000094573" "0000153115" "0000094574" "0000153116" "0000094575" "0000153117" "0000094576" "0000153118" "0000094577" "0000153119" "0000094578" "0000153120" "0000094579" "0000153121" "0000094580" "0000153122" "0000094581" "0000153123" "0000094582" "0000153124" "0000094583" "0000153125" "0000094584" "0000153126" "0000094585" "0000153127" "0000094586" "0000153128" "0000094587" "0000153129" "0000094588" "0000153130" "0000094589" "0000153131" "0000094590" "0000153132" "0000094591" "0000153133" "0000094592" "0000153134" "0000094593" "0000153135" "0000094594" "0000153136" "0000094595" "0000153137" "0000094596" "0000153138" "0000094597" "0000153139" "0000094598" "0000153140" "0000094599" "0000153141" "0000094600" "0000153142" "0000094601" "0000153143" "0000094602" "0000153144" "0000094603" "0000153145" "0000094604" "0000153146" "0000094605" "0000153147" "0000094606" "0000153148" "0000094607" "0000153149" "0000094608" "0000153150" "0000094609" "0000153151" "0000094610" "0000153152" "0000094611" "0000153153" "0000094612" "0000153154" "0000094613" "0000153155" "0000094614" "0000153156" "0000094615" "0000153157" "0000094616" "0000153158" "0000094617" "0000153159" "0000094618" "0000153160" "0000094619" "0000153161" "0000094620" "0000153162" "0000094621" "0000153163" "0000094622" "0000153164" "0000094623" "0000153165" "0000094624" "0000153166" "0000094625" "0000153167" "0000094626" "0000153168" "0000094627" "0000153169" "0000094628" "0000153170" "0000094629" "0000153171" "0000094630" "0000153172" "0000094631" "0000153173" "0000094632" "0000153174" "0000094633" "0000153175" "0000094634" "0000153176" "0000094635" "0000153177" "0000094636" "0000153178" "0000094637" "0000153179" "0000094638" "0000153180" "0000094639" "0000153181" "0000094640" "0000153182" "0000094641" "0000153183" "0000094642" "0000153184" "0000094643" "0000153185" "0000094644" "0000153186" "0000094645" "0000153187" "0000094646" "0000153188" "0000094647" "0000153189" "0000094648" "0000153190" "0000094649" "0000153191" "0000094650" "0000153192" "0000094651" "0000153193" "0000094652" "0000153194" "0000094653" "0000153195" "0000094654" "0000153196" "0000094655" "0000153197" "0000133027" "0000222315" "0000144062" "0000234501" "0000144669" "0000235495" "0000149427" "0000242776" "0000184197" "0000408196" "0000184238" "0000408249" "0000184240" "0000408250" "0000184245" "0000408255" "0000184247" "0000408256" "0000184248" "0000408258" "0000184249" "0000408259" "0000184251" "0000408260" "0000184252" "0000408262" "0000184253" "0000408264" "0000184254" "0000408265" "0000184255" "0000408266" "0000184256" "0000408267" "0000184257" "0000408268" "0000184258" "0000408269" "0000184259" "0000408270" "0000184260" "0000408271" "0000184261" "0000408272" "0000184262" "0000408273" "0000184262" "0000408274" "0000184263" "0000408275" "0000184264" "0000408276" "0000184266" "0000408278" "0000184267" "0000408280" "0000184268" "0000408281" "0000184269" "0000408282" "0000220148" "0000455057" "0000220148" "0000455058" "0000277173" "0000631917" "0000294015" "0000650704" "0000294016" "0000650705" "0000301205" "0000664100" "0000301257" "0000664187" "0000307090" "0000673655" "0000321252" "0000704064" "0000399080" "0000831397" "0000409950" "0000847166" "0000452081" "0000986034" "0000452116" "0000986096"